ClinVar Miner

List of variants studied for abnormal mineralization disorder

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1915
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.*1271A>C rs25990 0.99568
NM_054027.6(ANKH):c.*2107A>G rs25991 0.99530
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_000388.4(CASR):c.*574C>G rs6438718 0.96802
NM_000376.3(VDR):c.*1979C>G rs2544043 0.95138
NM_054027.6(ANKH):c.*3706G>A rs25992 0.94776
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_001177316.2(SLC34A3):c.1538A>T (p.Glu513Val) rs28542318 0.88574
NM_054027.6(ANKH):c.*3928C>T rs27911 0.87166
NM_054027.6(ANKH):c.*5641A>G rs26307 0.71463
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_004407.4(DMP1):c.*607A>G rs2627725 0.61047
NM_006208.3(ENPP1):c.*1972G>C rs1931006 0.57374
NM_000376.3(VDR):c.*2143A>T rs2853562 0.57087
NM_000376.3(VDR):c.1025-49G>T rs7975232 0.55284
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_000376.3(VDR):c.*308C>A rs739837 0.53268
NM_000444.6(PHEX):c.-90A>G rs178710 0.51407
NM_006208.3(ENPP1):c.*3724C>T rs2327154 0.46998
NM_006208.3(ENPP1):c.*1043A>G rs7754561 0.44199
NM_006208.3(ENPP1):c.*1157C>T rs7754859 0.44164
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_000376.3(VDR):c.1056T>C (p.Ile352=) rs731236 0.33962
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys) rs10019009 0.29735
NM_006208.3(ENPP1):c.*1091A>C rs7754586 0.28727
NM_004407.4(DMP1):c.1230G>A (p.Glu410=) rs2615497 0.28028
NM_004407.4(DMP1):c.*35G>A rs2627724 0.27831
NM_000388.4(CASR):c.*1015A>G rs9740 0.27327
NM_020638.3(FGF23):c.*1429A>T rs11063112 0.22976
NM_054027.6(ANKH):c.1011+15T>G rs187483 0.20625
NM_000388.4(CASR):c.*1093C>T rs1802757 0.17297
NM_006208.3(ENPP1):c.*1539A>G rs9493121 0.16942
NM_006208.3(ENPP1):c.*3837T>C rs55725924 0.16400
NM_006208.3(ENPP1):c.*3511T>C rs9483350 0.16375
NM_004407.4(DMP1):c.1218C>T (p.Ser406=) rs2615498 0.15334
NM_054027.6(ANKH):c.294C>T (p.Ala98=) rs17251667 0.13744
NM_000444.6(PHEX):c.-33C>T rs5951494 0.13118
NM_006208.3(ENPP1):c.*1350G>A rs9493120 0.12565
NM_006208.3(ENPP1):c.*563G>A rs1044586 0.12391
NM_006208.3(ENPP1):c.*1101G>T rs11154647 0.12369
NM_006208.3(ENPP1):c.*1137T>C rs11154648 0.12356
NM_006208.3(ENPP1):c.*777C>T rs34836463 0.12355
NM_006208.3(ENPP1):c.*457T>A rs1044582 0.12353
NM_006208.3(ENPP1):c.*699T>A rs34142005 0.12323
NM_006208.3(ENPP1):c.*112G>A rs1044548 0.12306
NM_000376.3(VDR):c.*461G>T rs3847987 0.12128
NM_020638.3(FGF23):c.716C>T (p.Thr239Met) rs7955866 0.11385
NM_006208.3(ENPP1):c.*163C>T rs1044558 0.10959
NM_006208.3(ENPP1):c.*389G>A rs553 0.10942
NM_006208.3(ENPP1):c.*1240T>C rs758925757 0.10712
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_006208.3(ENPP1):c.*3271C>G rs1510 0.09857
NM_000444.6(PHEX):c.1966-11T>C rs12014792 0.09259
NM_054027.6(ANKH):c.*31A>G rs3045 0.09134
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_006208.3(ENPP1):c.*4636C>T rs11963615 0.08655
NM_000376.3(VDR):c.*2791G>A rs2853563 0.08064
NM_054027.6(ANKH):c.313+9G>A rs73048890 0.07896
NM_000376.3(VDR):c.146+8C>T rs10783218 0.07673
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) rs1804025 0.07647
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474 0.06312
NM_054027.6(ANKH):c.*510C>T rs17364066 0.06225
NM_006208.3(ENPP1):c.313+9G>T rs7773477 0.05630
NM_054027.6(ANKH):c.-4G>A rs78431233 0.05430
NM_006208.3(ENPP1):c.*3838G>A rs59958908 0.05378
NM_054027.6(ANKH):c.*3899T>C rs559763037 0.04947
NM_004407.4(DMP1):c.*905A>G rs73843105 0.04782
NM_006208.3(ENPP1):c.*1670T>C rs9493122 0.04663
NM_006208.3(ENPP1):c.*735A>G rs12212882 0.04659
NM_006208.3(ENPP1):c.*1348T>C rs9483349 0.04649
NM_004407.4(DMP1):c.*280C>T rs76370957 0.04084
NM_006208.3(ENPP1):c.*2282G>A rs73778612 0.04080
NM_006208.3(ENPP1):c.*3017C>T rs1931009 0.03561
NM_006208.3(ENPP1):c.1566-14T>C rs75272847 0.03524
NM_006208.3(ENPP1):c.*2036A>G rs73778611 0.03506
NM_000376.3(VDR):c.*437C>G rs11574119 0.03464
NM_006208.3(ENPP1):c.*3706G>A rs12205225 0.03390
NM_001177316.2(SLC34A3):c.1795T>C (p.Leu599=) rs74842953 0.03237
NM_000376.3(VDR):c.57C>T (p.Asn19=) rs2228572 0.03209
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_054027.6(ANKH):c.*4672G>A rs61502042 0.02679
NM_004407.4(DMP1):c.*457T>C rs6842411 0.02615
NM_004407.4(DMP1):c.*329A>C rs6816379 0.02610
NM_006208.3(ENPP1):c.*3784T>C rs116417632 0.02593
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_054027.6(ANKH):c.*561C>T rs116140147 0.02462
NM_006208.3(ENPP1):c.*3625G>A rs150482147 0.02409
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_000785.4(CYP27B1):c.942G>A (p.Leu314=) rs8176345 0.02124
NM_054027.6(ANKH):c.*4182T>G rs13358074 0.02029
NM_000376.3(VDR):c.*408T>C rs112308011 0.01929
NM_054027.6(ANKH):c.*4244T>A rs137905502 0.01911
NM_006208.3(ENPP1):c.*477A>T rs113086095 0.01777
NM_024529.5(CDC73):c.*1267A>G rs78218016 0.01764
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_054027.6(ANKH):c.1265+6T>C rs114529889 0.01616
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) rs113723070 0.01601
NM_000376.3(VDR):c.*1226T>C rs11574129 0.01576
NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=) rs117913124 0.01543
NM_054027.6(ANKH):c.*2119C>T rs150130025 0.01502
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_018646.6(TRPV6):c.1092C>T (p.Tyr364=) rs4987663 0.01482
NM_054027.6(ANKH):c.*3628T>C rs141052195 0.01460
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_054027.6(ANKH):c.*3420T>C rs79059123 0.01452
NM_004407.4(DMP1):c.*603C>T rs78837592 0.01450
NM_006208.3(ENPP1):c.*3163C>T rs55670720 0.01449
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_000376.3(VDR):c.*1503G>A rs115591719 0.01430
NM_006208.3(ENPP1):c.*2900G>T rs78495668 0.01409
NM_054027.6(ANKH):c.*580C>T rs192753009 0.01397
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837 0.01366
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) rs34661425 0.01341
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) rs9483347 0.01323
NM_054027.6(ANKH):c.*283C>T rs36072175 0.01320
NM_054027.6(ANKH):c.*4251T>C rs77573132 0.01317
NM_004752.4(GCM2):c.1060A>G (p.Met354Val) rs61734278 0.01292
NM_054027.6(ANKH):c.*925T>C rs115929672 0.01275
NM_000444.6(PHEX):c.-108A>G rs149541983 0.01269
NM_006208.3(ENPP1):c.*2301A>G rs115728089 0.01267
NM_024529.5(CDC73):c.*580A>T rs191600804 0.01264
NM_020638.3(FGF23):c.*1079A>G rs13312798 0.01230
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala) rs35643193 0.01167
NM_054027.6(ANKH):c.*4624A>C rs78550928 0.01160
NM_024529.5(CDC73):c.*2950A>G rs144681513 0.01153
NM_024529.5(CDC73):c.*3507G>T rs151216299 0.01140
NM_000376.3(VDR):c.*1865G>A rs11540149 0.01124
NM_054027.6(ANKH):c.*3543G>T rs114164305 0.01111
NM_054027.6(ANKH):c.*5759G>C rs116362523 0.01091
NM_006208.3(ENPP1):c.*2076C>T rs117531639 0.01090
NM_054027.6(ANKH):c.*6226G>A rs116590750 0.01087
NM_000376.3(VDR):c.*1420T>C rs56382517 0.01021
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075 0.00986
NM_000444.6(PHEX):c.288A>G (p.Glu96=) rs112836831 0.00980
NM_054027.6(ANKH):c.*4513G>A rs148211290 0.00949
NM_054027.6(ANKH):c.405C>T (p.Leu135=) rs149656955 0.00943
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706 0.00903
NM_020638.3(FGF23):c.*23T>G rs13312794 0.00893
NM_006208.3(ENPP1):c.*400C>A rs55828988 0.00861
NM_006208.3(ENPP1):c.*1224A>G rs115623040 0.00854
NM_006208.3(ENPP1):c.*4248G>A rs150587148 0.00820
NM_054027.6(ANKH):c.*4219T>C rs147322366 0.00820
NM_024514.5(CYP2R1):c.651T>C (p.Asn217=) rs111576400 0.00790
NM_000376.3(VDR):c.48T>C (p.Phe16=) rs11832059 0.00770
NM_000376.3(VDR):c.*222G>C rs11574117 0.00758
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
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_054027.6(ANKH):c.432+13G>A rs112742497 0.00728
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_000376.3(VDR):c.*748T>G rs11574124 0.00684
NM_000376.3(VDR):c.*1992C>T rs142851923 0.00673
NM_054027.6(ANKH):c.*5895C>A rs141264056 0.00653
NM_000444.6(PHEX):c.*218A>C rs141594056 0.00645
NM_000376.3(VDR):c.444C>T (p.Ser148=) rs2229828 0.00638
NM_054027.6(ANKH):c.*3900T>C rs76635089 0.00632
NM_054027.6(ANKH):c.*724A>C rs141576604 0.00627
NM_054027.6(ANKH):c.*6386G>C rs145195435 0.00582
NM_000376.3(VDR):c.-84+5034C>T rs113046660 0.00573
NM_006208.3(ENPP1):c.*1122A>G rs148507889 0.00539
NM_006208.3(ENPP1):c.*3176T>A rs114333444 0.00525
NM_000376.3(VDR):c.*184T>G rs11574116 0.00517
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_006208.3(ENPP1):c.*1038T>A rs79214335 0.00496
NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=) rs34796681 0.00467
NM_004407.4(DMP1):c.475C>A (p.Gln159Lys) rs79402270 0.00466
NM_000376.3(VDR):c.*2023G>A rs11574135 0.00453
NM_024514.5(CYP2R1):c.368-12A>T rs189127299 0.00447
NM_024529.5(CDC73):c.*2304T>G rs144363422 0.00424
NM_054027.6(ANKH):c.*6163A>G rs182300014 0.00411
NM_000376.3(VDR):c.*1477C>T rs11574132 0.00409
NM_020638.3(FGF23):c.*1971T>C rs140798293 0.00403
NM_000444.6(PHEX):c.1383G>A (p.Thr461=) rs77710864 0.00397
NM_054027.6(ANKH):c.*1008C>G rs143400303 0.00394
NM_020638.3(FGF23):c.*1471C>A rs114125104 0.00388
NM_004407.4(DMP1):c.*380C>T rs150349595 0.00387
NM_020638.3(FGF23):c.*1219C>T rs115582772 0.00387
NM_020638.3(FGF23):c.*1316C>A rs138576496 0.00387
NM_020638.3(FGF23):c.*1464T>C rs144700678 0.00387
NM_006208.3(ENPP1):c.*96C>T rs147396850 0.00384
NM_054027.6(ANKH):c.*5662C>T rs190396675 0.00384
NM_054027.6(ANKH):c.*1814G>A rs183138464 0.00367
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108 0.00329
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) rs144901347 0.00327
NM_054027.6(ANKH):c.*2543G>C rs143619241 0.00325
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=) rs113568956 0.00320
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser) rs13312793 0.00310
NM_054027.6(ANKH):c.1332C>T (p.Val444=) rs139351002 0.00309
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_054027.6(ANKH):c.1453G>A (p.Val485Met) rs143550972 0.00304
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_020638.3(FGF23):c.*1772G>A rs13312800 0.00298
NM_020638.3(FGF23):c.423G>T (p.Ala141=) rs13312792 0.00290
NM_054027.6(ANKH):c.*5518C>T rs143143398 0.00280
NM_054027.6(ANKH):c.*831T>C rs182130104 0.00267
NM_000444.6(PHEX):c.*58C>T rs183223600 0.00262
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) rs140521704 0.00260
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp) rs114070356 0.00258
NM_000376.3(VDR):c.*2127C>T rs973050505 0.00253
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_004407.4(DMP1):c.879T>C (p.Ser293=) rs150896376 0.00248
NM_001177316.2(SLC34A3):c.1093+19G>A rs201165474 0.00220
NM_000376.3(VDR):c.933G>A (p.Glu311=) rs150775215 0.00217
NM_024529.5(CDC73):c.*2085G>C rs150030810 0.00217
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_006208.3(ENPP1):c.*3879A>G rs144511581 0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_006208.3(ENPP1):c.*4064T>C rs141760620 0.00214
NM_024529.5(CDC73):c.*3419T>A rs566373225 0.00205
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_054027.6(ANKH):c.*52G>A rs369937597 0.00200
NM_004407.4(DMP1):c.159C>T (p.Gly53=) rs144471060 0.00197
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00196
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_000376.3(VDR):c.909C>T (p.Ala303=) rs12721365 0.00195
NM_024529.5(CDC73):c.*518A>G rs190433473 0.00195
NM_004407.4(DMP1):c.639G>A (p.Glu213=) rs116732769 0.00193
NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp) rs41265203 0.00192
NM_000376.3(VDR):c.*843C>T rs576342182 0.00188
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) rs112513380 0.00173
NM_000376.3(VDR):c.908-14A>G rs11574107 0.00170
NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu) rs8176344 0.00170
NM_020638.3(FGF23):c.*1886C>A rs183802802 0.00169
NM_054027.6(ANKH):c.-252C>T rs530246274 0.00168
NM_006208.3(ENPP1):c.*3920G>A rs111741864 0.00167
NM_054027.6(ANKH):c.*1988C>G rs552146695 0.00167
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_020638.3(FGF23):c.*553C>A rs80210924 0.00163
NM_020638.3(FGF23):c.211+19T>C rs141828684 0.00162
NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=) rs141775305 0.00161
NM_006208.3(ENPP1):c.*3528C>T rs557822175 0.00161
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile) rs11574115 0.00159
NM_054027.6(ANKH):c.*3962T>C rs528418242 0.00159
NM_054027.6(ANKH):c.*3616C>T rs550672520 0.00158
NM_000376.3(VDR):c.*601C>T rs11574121 0.00155
NM_000376.3(VDR):c.*2446G>A rs146017596 0.00150
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_000376.3(VDR):c.*1666A>C rs11574134 0.00145
NM_054027.6(ANKH):c.*2699G>C rs569690245 0.00145
NM_024529.5(CDC73):c.*1365T>C rs180929933 0.00143
NM_004752.4(GCM2):c.306G>A (p.Arg102=) rs149143032 0.00142
NM_020638.3(FGF23):c.*29C>G rs71534281 0.00140
NM_006208.3(ENPP1):c.*3594C>T rs140569538 0.00139
NM_000785.4(CYP27B1):c.*77G>A rs8176350 0.00137
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_004407.4(DMP1):c.*918T>G rs146337309 0.00118
NM_006208.3(ENPP1):c.*1307T>G rs189263683 0.00117
NM_024529.5(CDC73):c.*1472T>G rs576716003 0.00117
NM_006208.3(ENPP1):c.*4015G>A rs531152298 0.00116
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_024529.5(CDC73):c.*2446C>T rs572307472 0.00114
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_006208.3(ENPP1):c.313+13G>T rs748468831 0.00111
NM_000376.3(VDR):c.1048G>A (p.Ala350Thr) rs148856375 0.00109
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_000376.3(VDR):c.1073G>A (p.Arg358His) rs114678556 0.00106
NM_006208.3(ENPP1):c.*1499C>T rs541116091 0.00106
NM_000388.4(CASR):c.-154T>A rs186365367 0.00101
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00098
NM_006208.3(ENPP1):c.*804A>G rs114078048 0.00098
NM_000376.3(VDR):c.*2832C>T rs73109835 0.00097
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=) rs8176349 0.00096
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_024514.5(CYP2R1):c.375C>T (p.Leu125=) rs145794885 0.00091
NM_020638.3(FGF23):c.*1575T>C rs562433374 0.00088
NM_000785.4(CYP27B1):c.*143G>A rs569065283 0.00087
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_054027.6(ANKH):c.*2714T>C rs141202503 0.00086
NM_000376.3(VDR):c.*1319C>T rs11574131 0.00083
NM_054027.6(ANKH):c.*5459C>T rs79739542 0.00083
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_024514.5(CYP2R1):c.467C>G (p.Ser156Cys) rs140947977 0.00081
NM_054027.6(ANKH):c.*11G>A rs111369645 0.00081
NM_004407.4(DMP1):c.724T>C (p.Ser242Pro) rs147552663 0.00080
NM_006208.3(ENPP1):c.522C>T (p.Gly174=) rs144882196 0.00080
NM_000444.6(PHEX):c.-126C>G rs185830047 0.00078
NM_024529.5(CDC73):c.*1132G>T rs1017988008 0.00078
NM_054027.6(ANKH):c.369G>A (p.Ser123=) rs145463643 0.00078
NM_000785.4(CYP27B1):c.-22C>G rs146281435 0.00077
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) rs1805138 0.00076
NM_024529.5(CDC73):c.*3266A>G rs532839308 0.00075
NM_054027.6(ANKH):c.681G>A (p.Glu227=) rs144687394 0.00074
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_006208.3(ENPP1):c.*3718C>T rs867805924 0.00071
NM_024529.5(CDC73):c.*3524A>G rs548190260 0.00071
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
NM_004407.4(DMP1):c.312C>T (p.Asp104=) rs148543792 0.00070
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_004407.4(DMP1):c.943G>C (p.Gly315Arg) rs149603030 0.00069
NM_054027.6(ANKH):c.*1711C>A rs75139257 0.00066
NM_054027.6(ANKH):c.*3627G>A rs149815187 0.00066
NM_001177316.2(SLC34A3):c.1727G>T (p.Ser576Ile) rs200090657 0.00064
NM_001177316.2(SLC34A3):c.919C>A (p.Leu307Met) rs202109348 0.00064
NM_020638.3(FGF23):c.*235C>T rs566868058 0.00064
NM_006208.3(ENPP1):c.*1239T>C rs1251519009 0.00063
NM_000388.4(CASR):c.*923T>C rs201230484 0.00061
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) rs151335249 0.00061
NM_004407.4(DMP1):c.*373T>A rs183996325 0.00061
NM_006208.3(ENPP1):c.*2564A>G rs534823686 0.00061
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_006208.3(ENPP1):c.313+10T>G rs202225018 0.00059
NM_054027.6(ANKH):c.*2392G>T rs185488764 0.00059
NM_054027.6(ANKH):c.*349A>G rs146084864 0.00059
NM_001127898.4(CLCN5):c.2361-18A>G rs372830719 0.00057
NM_004407.4(DMP1):c.1023C>T (p.Ser341=) rs140807822 0.00056
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_054027.6(ANKH):c.*6012T>C rs576051028 0.00056
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_054027.6(ANKH):c.*1646A>G rs564365629 0.00052
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343 0.00051
NM_054027.6(ANKH):c.*706C>T rs150916853 0.00051
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_000376.3(VDR):c.*2973G>A rs760268626 0.00048
NM_000444.6(PHEX):c.249C>T (p.Phe83=) rs145224279 0.00048
NM_020638.3(FGF23):c.342G>A (p.Arg114=) rs138972495 0.00048
NM_000376.3(VDR):c.*2227G>A rs138753910 0.00046
NM_054027.6(ANKH):c.*2200T>C rs191334359 0.00046
NM_000376.3(VDR):c.-84+5000T>C rs752094022 0.00045
NM_054027.6(ANKH):c.*2243C>T rs531980160 0.00045
NM_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
NM_004407.4(DMP1):c.1356C>T (p.Asp452=) rs149026481 0.00043
NM_004407.4(DMP1):c.1433A>C (p.Asp478Ala) rs148156611 0.00043
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_024529.5(CDC73):c.*453A>C rs547363180 0.00042
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_054027.6(ANKH):c.*1626G>A rs760609731 0.00041
NM_054027.6(ANKH):c.*4351C>T rs141209810 0.00041
NM_000388.4(CASR):c.*1201C>T rs886057837 0.00039
NM_001177316.2(SLC34A3):c.1191G>A (p.Ala397=) rs199701166 0.00039
NM_000376.3(VDR):c.52C>T (p.Arg18Trp) rs147496897 0.00038
NM_000785.4(CYP27B1):c.*635G>A rs533718329 0.00038
NM_006208.3(ENPP1):c.*1525T>G rs751093256 0.00038
NM_006208.3(ENPP1):c.*467A>C rs866470811 0.00038
NM_054027.6(ANKH):c.*4103G>A rs181397772 0.00038
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser) rs140275311 0.00036
NM_006208.3(ENPP1):c.*1125G>T rs565731581 0.00036
NM_006208.3(ENPP1):c.*2342G>T rs570500845 0.00036
NM_024529.5(CDC73):c.*1761T>C rs528066706 0.00036
NM_024529.5(CDC73):c.873C>T (p.Asn291=) rs149400412 0.00036
NM_054027.6(ANKH):c.*3554C>T rs185233583 0.00036
NM_054027.6(ANKH):c.*4958T>C rs187771198 0.00036
NM_000376.3(VDR):c.1016T>C (p.Val339Ala) rs187843998 0.00035
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_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_000444.6(PHEX):c.996C>T (p.Asp332=) rs139749399 0.00034
NM_004407.4(DMP1):c.91G>A (p.Glu31Lys) rs202210004 0.00034
NM_006208.3(ENPP1):c.*3602C>T rs540525767 0.00034
NM_000444.6(PHEX):c.*227C>G rs765787001 0.00033
NM_000785.4(CYP27B1):c.1216-18T>G rs188819808 0.00033
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) rs201629800 0.00033
NM_054027.6(ANKH):c.915+14C>T rs140045509 0.00032
NM_000785.4(CYP27B1):c.*446G>A rs763711308 0.00031
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_004407.4(DMP1):c.*159T>A rs865870083 0.00030
NM_054027.6(ANKH):c.1141+5A>G rs187972211 0.00030
NM_024514.5(CYP2R1):c.225+10C>T rs375228883 0.00029
NM_024529.5(CDC73):c.*1787A>G rs747621423 0.00029
NM_054027.6(ANKH):c.*405G>A rs557668196 0.00029
NM_054027.6(ANKH):c.*819T>G rs186783503 0.00029
NM_054027.6(ANKH):c.*840G>C rs568699300 0.00029
NM_054027.6(ANKH):c.1021G>A (p.Val341Met) rs199664007 0.00029
NM_006208.3(ENPP1):c.*1960C>T rs538657283 0.00028
NM_006208.3(ENPP1):c.*657A>G rs1020041286 0.00028
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_020638.3(FGF23):c.*2062A>C rs558079364 0.00028
NM_001177316.2(SLC34A3):c.1765G>A (p.Glu589Lys) rs376700316 0.00027
NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro) rs145899150 0.00027
NM_000444.6(PHEX):c.1437A>G (p.Pro479=) rs141436752 0.00026
NM_004407.4(DMP1):c.1502T>C (p.Ile501Thr) rs146762807 0.00026
NM_001177316.2(SLC34A3):c.781A>G (p.Ser261Gly) rs201964796 0.00024
NM_024529.5(CDC73):c.*1644C>T rs764317616 0.00024
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00024
NM_000785.4(CYP27B1):c.386+10C>T rs376212738 0.00023
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) rs150648140 0.00023
NM_006208.3(ENPP1):c.*2698G>A rs146550172 0.00023
NM_020638.3(FGF23):c.*784C>T rs553998728 0.00022
NM_024529.5(CDC73):c.*3791T>C rs886045739 0.00022
NM_000376.3(VDR):c.-84+5072C>T rs144982071 0.00021
NM_000376.3(VDR):c.362G>A (p.Arg121Gln) rs200765991 0.00021
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165 0.00021
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs) rs771816857 0.00021
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821 0.00021
NM_054027.6(ANKH):c.*3172A>G rs933543701 0.00021
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_000444.6(PHEX):c.1483-7T>C rs369175587 0.00020
NM_000785.4(CYP27B1):c.*345T>C rs141820034 0.00020
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) rs140514551 0.00020
NM_000376.3(VDR):c.*877C>G rs556844112 0.00019
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267 0.00019
NM_000785.4(CYP27B1):c.*426T>C rs751250622 0.00019
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) rs368126466 0.00019
NM_001177316.2(SLC34A3):c.1093+8C>T rs201986644 0.00019
NM_004407.4(DMP1):c.*527G>A rs554759690 0.00019
NM_004407.4(DMP1):c.55-3T>G rs181490843 0.00019
NM_020638.3(FGF23):c.*1398T>A rs531815578 0.00019
NM_020638.3(FGF23):c.551A>G (p.Asp184Gly) rs144925325 0.00019
NM_054027.6(ANKH):c.*6235G>A rs546234916 0.00019
NM_000376.3(VDR):c.*967C>A rs775657996 0.00018
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=) rs148026048 0.00018
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_000388.4(CASR):c.*1169C>T rs200652347 0.00017
NM_000388.4(CASR):c.*1193C>T rs886057835 0.00017
NM_000388.4(CASR):c.*1197C>G rs886057836 0.00017
NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp) rs140319849 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001177316.2(SLC34A3):c.688A>C (p.Thr230Pro) rs200507464 0.00017
NM_004407.4(DMP1):c.996C>G (p.Asn332Lys) rs200882371 0.00017
NM_006208.3(ENPP1):c.*1105T>C rs534792138 0.00017
NM_006208.3(ENPP1):c.*2737C>T rs545095322 0.00017
NM_006208.3(ENPP1):c.*910C>G rs180843359 0.00017
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_020638.3(FGF23):c.*998C>G rs71583766 0.00017
NM_000376.3(VDR):c.*487C>T rs187706787 0.00016
NM_000388.4(CASR):c.27C>T (p.Val9=) rs141880581 0.00016
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_000785.4(CYP27B1):c.387-8C>A rs375741542 0.00016
NM_001177316.2(SLC34A3):c.876C>T (p.Phe292=) rs202060862 0.00016
NM_004407.4(DMP1):c.313G>A (p.Asp105Asn) rs142880465 0.00016
NM_006208.3(ENPP1):c.*637A>C rs552323303 0.00016
NM_024529.5(CDC73):c.-143G>C rs778446879 0.00016
NM_054027.6(ANKH):c.314-13C>T rs201856062 0.00016
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074 0.00015
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) rs147798092 0.00015
NM_054027.6(ANKH):c.*5768T>C rs145549693 0.00015
NM_000376.3(VDR):c.1206C>A (p.Arg402=) rs2229829 0.00014
NM_000376.3(VDR):c.889G>A (p.Val297Ile) rs144756403 0.00014
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) rs746847960 0.00014
NM_000444.6(PHEX):c.2068C>A (p.His690Asn) rs200733697 0.00014
NM_000444.6(PHEX):c.690C>T (p.Ala230=) rs149487757 0.00014
NM_000785.4(CYP27B1):c.348C>T (p.His116=) rs372771210 0.00014
NM_001177316.2(SLC34A3):c.304+20C>T rs199652389 0.00014
NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) rs370153862 0.00014
NM_020638.3(FGF23):c.*1492T>C rs986708682 0.00014
NM_024514.5(CYP2R1):c.1330+17G>A rs782405402 0.00014
NM_024514.5(CYP2R1):c.851T>C (p.Met284Thr) rs200183599 0.00014
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln) rs544848340 0.00014
NM_000376.3(VDR):c.*1482G>C rs546483718 0.00013
NM_000376.3(VDR):c.*882C>A rs546175308 0.00013
NM_000376.3(VDR):c.429C>T (p.Tyr143=) rs140864473 0.00013
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_004407.4(DMP1):c.*61C>T rs886059688 0.00013
NM_004407.4(DMP1):c.135+1G>T rs141480996 0.00013
NM_024514.5(CYP2R1):c.873A>G (p.Pro291=) rs184549196 0.00013
NM_024529.5(CDC73):c.*2427T>C rs372585994 0.00013
NM_024529.5(CDC73):c.*683G>A rs905879297 0.00013
NM_054027.6(ANKH):c.*3386G>A rs368727070 0.00013
NM_054027.6(ANKH):c.*4250T>C rs776929735 0.00013
NM_054027.6(ANKH):c.*5900T>C rs943784205 0.00013
NM_054027.6(ANKH):c.*6034A>C rs886060067 0.00013
NM_054027.6(ANKH):c.*6205G>A rs886060065 0.00013
NM_000444.6(PHEX):c.*339A>G rs773553690 0.00012
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521 0.00012
NM_001177316.2(SLC34A3):c.204C>T (p.Arg68=) rs140559114 0.00012
NM_006208.3(ENPP1):c.*1221A>G rs537272519 0.00012
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_020638.3(FGF23):c.*1803C>T rs13312801 0.00012
NM_024529.5(CDC73):c.*1985T>A rs886045726 0.00012
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00012
NM_054027.6(ANKH):c.*3548G>A rs539426552 0.00012
NM_054027.6(ANKH):c.*433G>A rs189866379 0.00012
NM_054027.6(ANKH):c.*4428T>C rs563509166 0.00012
NM_000376.3(VDR):c.*2545G>T rs765177595 0.00011
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_000785.4(CYP27B1):c.*329T>C rs895857646 0.00011
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) rs568165874 0.00011
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His) rs148124447 0.00011
NM_001177316.2(SLC34A3):c.1069G>A (p.Val357Ile) rs557760566 0.00011
NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg) rs756241784 0.00011
NM_001177316.2(SLC34A3):c.995T>C (p.Leu332Pro) rs765668692 0.00011
NM_054027.6(ANKH):c.*2017G>A rs759890855 0.00011
NM_054027.6(ANKH):c.*3752G>A rs896227717 0.00011
NM_054027.6(ANKH):c.*5912T>A rs886060068 0.00011
NM_000376.3(VDR):c.*2047G>A rs767636971 0.00010
NM_000376.3(VDR):c.*2328C>G rs770829205 0.00010
NM_000376.3(VDR):c.1098C>T (p.Tyr366=) rs34189316 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser) rs760556268 0.00010
NM_006208.3(ENPP1):c.*2966C>G rs1224210803 0.00010
NM_024529.5(CDC73):c.*2420A>C rs536960020 0.00010
NM_024529.5(CDC73):c.*2677G>A rs192018514 0.00010
NM_024529.5(CDC73):c.-30C>T rs770313192 0.00010
NM_054027.6(ANKH):c.*2236G>A rs201439698 0.00010
NM_000376.3(VDR):c.*2456C>T rs11574137 0.00009
NM_000376.3(VDR):c.*2491A>C rs137869743 0.00009
NM_000376.3(VDR):c.156G>T (p.Met52Ile) rs200041268 0.00009
NM_000376.3(VDR):c.64C>T (p.Arg22Trp) rs199929033 0.00009
NM_000388.4(CASR):c.-137C>T rs201074178 0.00009
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_000388.4(CASR):c.1788C>T (p.Thr596=) rs142778221 0.00009
NM_000388.4(CASR):c.2844G>A (p.Leu948=) rs140586950 0.00009
NM_000444.6(PHEX):c.444T>C (p.Ile148=) rs145881500 0.00009
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_001177316.2(SLC34A3):c.1606C>T (p.Arg536Trp) rs142206230 0.00009
NM_001177316.2(SLC34A3):c.705G>A (p.Ala235=) rs143867268 0.00009
NM_004407.4(DMP1):c.517C>T (p.Arg173Trp) rs200549155 0.00009
NM_006208.3(ENPP1):c.*4346T>A rs374532158 0.00009
NM_006208.3(ENPP1):c.*485C>A rs563326994 0.00009
NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser) rs754866098 0.00009
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) rs368742582 0.00009
NM_024529.4(CDC73):c.-190G>C rs886045709 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_054027.6(ANKH):c.*1754G>A rs971385670 0.00009
NM_054027.6(ANKH):c.*5930C>T rs747178382 0.00009
NM_054027.6(ANKH):c.1338C>T (p.Ile446=) rs756749018 0.00009
NM_054027.6(ANKH):c.1365+13C>T rs377704922 0.00009
NM_000376.3(VDR):c.*773T>G rs550578263 0.00008
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_000444.6(PHEX):c.*361T>C rs182654518 0.00008
NM_004407.4(DMP1):c.674G>A (p.Ser225Asn) rs373051924 0.00008
NM_006208.3(ENPP1):c.*1858C>G rs559926548 0.00008
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) rs750660271 0.00008
NM_024529.5(CDC73):c.876A>G (p.Arg292=) rs909578765 0.00008
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_000388.4(CASR):c.825T>C (p.Asp275=) rs199836910 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) rs201962580 0.00007
NM_001177316.2(SLC34A3):c.1415C>T (p.Pro472Leu) rs750347570 0.00007
NM_001177316.2(SLC34A3):c.1639C>T (p.Arg547Cys) rs753910973 0.00007
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_004407.4(DMP1):c.*77T>C rs963086141 0.00007
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 0.00007
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) rs201519006 0.00007
NM_006208.3(ENPP1):c.1540T>C (p.Leu514=) rs536023117 0.00007
NM_006208.3(ENPP1):c.313+11G>T rs781539069 0.00007
NM_020638.3(FGF23):c.559C>G (p.Arg187Gly) rs190841442 0.00007
NM_024514.5(CYP2R1):c.352A>G (p.Met118Val) rs375085420 0.00007
NM_024529.5(CDC73):c.*2625A>G rs531872328 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.648T>A (p.Ala216=) rs143149579 0.00007
NM_054027.6(ANKH):c.*793A>G rs377136068 0.00007
NM_000376.3(VDR):c.1095G>A (p.Thr365=) rs578013785 0.00006
NM_000376.3(VDR):c.89G>A (p.Arg30Gln) rs373875011 0.00006
NM_000388.4(CASR):c.-111C>A rs201098532 0.00006
NM_000388.4(CASR):c.1554A>G (p.Gly518=) rs138099808 0.00006
NM_000388.4(CASR):c.2209G>A (p.Val737Ile) rs200318708 0.00006
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850 0.00006
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys) rs555068245 0.00006
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=) rs537715358 0.00006
NM_001177316.2(SLC34A3):c.1211-36G>A rs748121039 0.00006
NM_001177316.2(SLC34A3):c.1609C>T (p.Arg537Cys) rs781443814 0.00006
NM_001177316.2(SLC34A3):c.1753G>A (p.Ala585Thr) rs939469698 0.00006
NM_001177316.2(SLC34A3):c.704C>T (p.Ala235Val) rs756672024 0.00006
NM_004407.4(DMP1):c.*695T>A rs886059690 0.00006
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 0.00006
NM_006208.3(ENPP1):c.*4586G>A rs886061083 0.00006
NM_006208.3(ENPP1):c.2445-5T>C rs369942606 0.00006
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) rs147798392 0.00006
NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys) rs750624044 0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) rs529924080 0.00006
NM_020638.3(FGF23):c.88C>T (p.Pro30Ser) rs758725402 0.00006
NM_024514.5(CYP2R1):c.995T>C (p.Ile332Thr) rs368317393 0.00006
NM_024529.5(CDC73):c.*1083A>T rs367704451 0.00006
NM_024529.5(CDC73):c.*1599A>G rs543573271 0.00006
NM_024529.5(CDC73):c.*2801A>G rs999015399 0.00006
NM_024529.5(CDC73):c.*2962T>C rs147904515 0.00006
NM_024529.5(CDC73):c.*948C>T rs761544591 0.00006
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_024529.5(CDC73):c.333C>T (p.Ser111=) rs374834265 0.00006
NM_054027.6(ANKH):c.*1081C>T rs886060083 0.00006
NM_054027.6(ANKH):c.*1270A>C rs187733448 0.00006
NM_054027.6(ANKH):c.*2262G>T rs537181523 0.00006
NM_054027.6(ANKH):c.*3562G>T rs917646845 0.00006
NM_054027.6(ANKH):c.*5899A>G rs976896150 0.00006
NM_000376.3(VDR):c.*2413G>C rs886049414 0.00005
NM_000376.3(VDR):c.1131C>T (p.His377=) rs201868713 0.00005
NM_000376.3(VDR):c.1152C>A (p.Ile384=) rs753086299 0.00005
NM_000376.3(VDR):c.162G>A (p.Arg54=) rs774173372 0.00005
NM_000376.3(VDR):c.199C>T (p.Arg67Cys) rs369248365 0.00005
NM_000388.4(CASR):c.*251G>C rs904222689 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000444.6(PHEX):c.*360A>C rs1012718966 0.00005
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met) rs781924436 0.00005
NM_001177316.2(SLC34A3):c.1060G>A (p.Val354Met) rs534880363 0.00005
NM_001177316.2(SLC34A3):c.1072G>A (p.Val358Met) rs770332251 0.00005
NM_001177316.2(SLC34A3):c.1135G>A (p.Val379Ile) rs368525218 0.00005
NM_001177316.2(SLC34A3):c.1179C>T (p.Ser393=) rs200677629 0.00005
NM_006208.3(ENPP1):c.*4471C>T rs755679925 0.00005
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) rs201757026 0.00005
NM_006208.3(ENPP1):c.2415A>T (p.Gly805=) rs150970657 0.00005
NM_020638.3(FGF23):c.*181T>C rs886049409 0.00005
NM_020638.3(FGF23):c.331G>A (p.Glu111Lys) rs765478662 0.00005
NM_024529.5(CDC73):c.*1251A>G rs550417983 0.00005
NM_054027.6(ANKH):c.*2393A>T rs963039838 0.00005
NM_054027.6(ANKH):c.*4635A>C rs1036873430 0.00005
NM_054027.6(ANKH):c.*6129G>A rs757736999 0.00005
NM_054027.6(ANKH):c.*914A>C rs556791755 0.00005
NM_054027.6(ANKH):c.*999T>C rs957305303 0.00005
NM_054027.6(ANKH):c.1012-11T>G rs576472902 0.00005
NM_000376.3(VDR):c.*2296T>C rs868657217 0.00004
NM_000376.3(VDR):c.*2464C>G rs959744860 0.00004
NM_000376.3(VDR):c.14C>T (p.Ala5Val) rs368441608 0.00004
NM_000376.3(VDR):c.217C>T (p.Arg73Ter) rs980041568 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000376.3(VDR):c.259A>G (p.Ile87Val) rs387907555 0.00004
NM_000388.4(CASR):c.1913G>A (p.Arg638His) rs201852643 0.00004
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115 0.00004
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) rs199734455 0.00004
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) rs775066593 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) rs118204009 0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_000785.4(CYP27B1):c.262del (p.Val88fs) rs387906260 0.00004
NM_000785.4(CYP27B1):c.41G>A (p.Arg14His) rs372223837 0.00004
NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys) rs535463729 0.00004
NM_000785.4(CYP27B1):c.801C>T (p.His267=) rs150334927 0.00004
NM_001017535.1(VDR):c.-250G>A rs886049440 0.00004
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala) rs147378499 0.00004
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) rs782412118 0.00004
NM_001177316.2(SLC34A3):c.1444G>A (p.Ala482Thr) rs757308975 0.00004
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00004
NM_001177316.2(SLC34A3):c.328A>G (p.Lys110Glu) rs570711066 0.00004
NM_001177316.2(SLC34A3):c.605C>T (p.Thr202Ile) rs868077426 0.00004
NM_001177316.2(SLC34A3):c.757-16C>T rs372713559 0.00004
NM_001177316.2(SLC34A3):c.832A>G (p.Thr278Ala) rs760162354 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_004407.4(DMP1):c.*131T>C rs992683383 0.00004
NM_004407.4(DMP1):c.*799T>C rs563220149 0.00004
NM_004407.4(DMP1):c.11G>C (p.Ser4Thr) rs373562639 0.00004
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_004752.4(GCM2):c.318C>T (p.Cys106=) rs749600723 0.00004
NM_006208.3(ENPP1):c.*1559G>T rs551333973 0.00004
NM_006208.3(ENPP1):c.*1716G>A rs969372935 0.00004
NM_006208.3(ENPP1):c.*3126C>T rs886061078 0.00004
NM_006208.3(ENPP1):c.*4571G>C rs574559068 0.00004
NM_006208.3(ENPP1):c.*4641A>G rs545401301 0.00004
NM_006208.3(ENPP1):c.21G>T (p.Ala7=) rs886061063 0.00004
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) rs367759638 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser) rs2273411 0.00004
NM_020638.3(FGF23):c.*1049C>T rs13312797 0.00004
NM_020638.3(FGF23):c.636C>A (p.Ser212Arg) rs749770315 0.00004
NM_024514.5(CYP2R1):c.421G>A (p.Val141Ile) rs782437679 0.00004
NM_024529.5(CDC73):c.*1074A>T rs886045718 0.00004
NM_024529.5(CDC73):c.*1092A>G rs886045720 0.00004
NM_024529.5(CDC73):c.*2455C>T rs886045729 0.00004
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_054027.6(ANKH):c.*309G>C rs530153364 0.00004
NM_054027.6(ANKH):c.*4982T>C rs901092803 0.00004
NM_054027.6(ANKH):c.*833T>C rs995943291 0.00004
NM_054027.6(ANKH):c.1272C>T (p.His424=) rs201295416 0.00004
NM_054027.6(ANKH):c.288C>T (p.Ile96=) rs373730199 0.00004
NM_054027.6(ANKH):c.313+12G>A rs769050375 0.00004
NM_000376.3(VDR):c.*1191G>A rs746110425 0.00003
NM_000376.3(VDR):c.*2309C>T rs186045639 0.00003
NM_000376.3(VDR):c.146+5G>A rs756376013 0.00003
NM_000376.3(VDR):c.219A>G (p.Arg73=) rs369091846 0.00003
NM_000376.3(VDR):c.361C>T (p.Arg121Trp) rs752590757 0.00003
NM_000376.3(VDR):c.519A>T (p.Arg173Ser) rs199620286 0.00003
NM_000376.3(VDR):c.65G>A (p.Arg22Gln) rs201676749 0.00003
NM_000376.3(VDR):c.781G>A (p.Val261Ile) rs746214307 0.00003
NM_000376.3(VDR):c.897C>T (p.Asp299=) rs746128447 0.00003
NM_000388.4(CASR):c.*103A>C rs199899073 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269 0.00003
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu) rs1007139212 0.00003
NM_000444.6(PHEX):c.1587-16G>T rs374593246 0.00003
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met) rs371825581 0.00003
NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp) rs749537609 0.00003
NM_000785.4(CYP27B1):c.164A>T (p.Lys55Met) rs762682469 0.00003
NM_001127898.4(CLCN5):c.1466C>T (p.Pro489Leu) rs782602018 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.1432G>A (p.Gly478Arg) rs758689905 0.00003
NM_001177316.2(SLC34A3):c.18C>T (p.Pro6=) rs772903522 0.00003
NM_001177316.2(SLC34A3):c.449-1G>C rs1345816189 0.00003
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala) rs139302994 0.00003
NM_001177316.2(SLC34A3):c.561-8G>A rs756580408 0.00003
NM_001177316.2(SLC34A3):c.671del (p.Leu224fs) rs755196320 0.00003
NM_001177316.2(SLC34A3):c.846+15C>T rs755035076 0.00003
NM_004407.4(DMP1):c.370A>C (p.Lys124Gln) rs886059686 0.00003
NM_004407.4(DMP1):c.905G>T (p.Arg302Ile) rs376055601 0.00003
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) rs104893960 0.00003
NM_006208.3(ENPP1):c.*3450T>C rs886061081 0.00003
NM_006208.3(ENPP1):c.*3919C>T rs866475719 0.00003
NM_006208.3(ENPP1):c.1998G>A (p.Gln666=) rs140470927 0.00003
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) rs1281361203 0.00003
NM_018646.6(TRPV6):c.978_979del (p.Gly327_Asp328insTer) rs1342435095 0.00003
NM_020638.3(FGF23):c.*1292C>T rs897877189 0.00003
NM_020638.3(FGF23):c.*1352T>C rs886049398 0.00003
NM_020638.3(FGF23):c.*182G>A rs563817819 0.00003
NM_020638.3(FGF23):c.*856C>G rs886049399 0.00003
NM_020638.3(FGF23):c.-23C>T rs769953313 0.00003
NM_020638.3(FGF23):c.64C>T (p.Leu22Phe) rs376694108 0.00003
NM_024529.5(CDC73):c.*2963A>G rs886045731 0.00003
NM_024529.5(CDC73):c.*2982T>C rs886045732 0.00003
NM_024529.5(CDC73):c.*463A>G rs879039427 0.00003
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.1417+9C>T rs769784756 0.00003
NM_024529.5(CDC73):c.1418-10C>G rs768713729 0.00003
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) rs145694828 0.00003
NM_054027.6(ANKH):c.*2694T>C rs886060075 0.00003
NM_054027.6(ANKH):c.*2770C>T rs563898623 0.00003
NM_054027.6(ANKH):c.*5887G>C rs1054439108 0.00003
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val) rs199961741 0.00003
NM_000376.3(VDR):c.*71G>A rs527310161 0.00002
NM_000376.3(VDR):c.1045G>A (p.Ala349Thr) rs774910763 0.00002
NM_000376.3(VDR):c.1134G>T (p.Leu378=) rs199583004 0.00002
NM_000376.3(VDR):c.149G>A (p.Arg50Gln) rs121909794 0.00002
NM_000388.4(CASR):c.1377+17T>C rs200650843 0.00002
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) rs942603230 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) rs766445416 0.00002
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser) rs763865303 0.00002
NM_000388.4(CASR):c.2669G>A (p.Arg890His) rs567996888 0.00002
NM_000388.4(CASR):c.2687G>A (p.Arg896His) rs773552397 0.00002
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831 0.00002
NM_000388.4(CASR):c.675A>G (p.Lys225=) rs202226622 0.00002
NM_000388.4(CASR):c.909C>G (p.Ser303=) rs375005541 0.00002
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357 0.00002
NM_000444.6(PHEX):c.*305G>A rs189715720 0.00002
NM_000444.6(PHEX):c.*48G>A rs765479131 0.00002
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) rs370746437 0.00002
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112 0.00002
NM_000785.4(CYP27B1):c.*764T>A rs997607806 0.00002
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val) rs1210108844 0.00002
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val) rs782088515 0.00002
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) rs946613180 0.00002
NM_001177316.2(SLC34A3):c.1324A>G (p.Ser442Gly) rs773903138 0.00002
NM_001177316.2(SLC34A3):c.1335+2T>A rs752222200 0.00002
NM_001177316.2(SLC34A3):c.140T>A (p.Leu47His) rs757815865 0.00002
NM_001177316.2(SLC34A3):c.1505C>T (p.Ala502Val) rs571107918 0.00002
NM_001177316.2(SLC34A3):c.383T>A (p.Val128Asp) rs759826596 0.00002
NM_001177316.2(SLC34A3):c.988G>A (p.Gly330Ser) rs369211663 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_006208.3(ENPP1):c.1274-5C>T rs751500820 0.00002
NM_006208.3(ENPP1):c.157A>G (p.Met53Val) rs1328207700 0.00002
NM_006208.3(ENPP1):c.2230+13C>T rs537428242 0.00002
NM_006208.3(ENPP1):c.313+15G>T rs770352358 0.00002
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) rs759393722 0.00002
NM_020638.3(FGF23):c.*944G>A rs561820380 0.00002
NM_020638.3(FGF23):c.249G>A (p.Val83=) rs753676774 0.00002
NM_020638.3(FGF23):c.46G>A (p.Val16Ile) rs760118094 0.00002
NM_024514.5(CYP2R1):c.1166T>A (p.Val389Glu) rs782535484 0.00002
NM_024514.5(CYP2R1):c.1364G>A (p.Arg455Gln) rs781875625 0.00002
NM_024514.5(CYP2R1):c.433C>T (p.Arg145Ter) rs576642411 0.00002
NM_024514.5(CYP2R1):c.852G>A (p.Met284Ile) rs782503732 0.00002
NM_024529.5(CDC73):c.*1789G>A rs1323646186 0.00002
NM_024529.5(CDC73):c.*3342G>A rs1174982740 0.00002
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn) rs971586985 0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=) rs752298916 0.00002
NM_024529.5(CDC73):c.450A>G (p.Lys150=) rs779144943 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_054027.6(ANKH):c.*1490T>C rs776755741 0.00002
NM_054027.6(ANKH):c.*1772C>T rs775380495 0.00002
NM_054027.6(ANKH):c.*3567G>C rs144789671 0.00002
NM_054027.6(ANKH):c.*4137G>C rs886060072 0.00002
NM_054027.6(ANKH):c.*5579G>A rs1200080153 0.00002
NM_054027.6(ANKH):c.*6006A>T rs1373491504 0.00002
NM_054027.6(ANKH):c.*781T>A rs886060086 0.00002
NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp) rs761349696 0.00002
NM_054027.6(ANKH):c.1365+9G>A rs771866688 0.00002
NM_054027.6(ANKH):c.600C>T (p.Gly200=) rs140150501 0.00002
NM_000376.3(VDR):c.*1437G>C rs752109177 0.00001
NM_000376.3(VDR):c.*1805A>T rs886049426 0.00001
NM_000376.3(VDR):c.*1982C>T rs886049425 0.00001
NM_000376.3(VDR):c.*2168G>C rs886049418 0.00001
NM_000376.3(VDR):c.*2263G>A rs886049417 0.00001
NM_000376.3(VDR):c.*2900A>C rs527373238 0.00001
NM_000376.3(VDR):c.*298C>T rs886049434 0.00001
NM_000376.3(VDR):c.*405G>T rs886049432 0.00001
NM_000376.3(VDR):c.*415C>T rs1238324914 0.00001
NM_000376.3(VDR):c.*51G>A rs539180933 0.00001
NM_000376.3(VDR):c.*534T>C rs886049431 0.00001
NM_000376.3(VDR):c.-12G>C rs886049438 0.00001
NM_000376.3(VDR):c.-45A>G rs752414831 0.00001
NM_000376.3(VDR):c.110A>G (p.Asn37Ser) rs370473254 0.00001
NM_000376.3(VDR):c.1183G>C (p.Glu395Gln) rs1472591641 0.00001
NM_000376.3(VDR):c.221G>A (p.Arg74His) rs1000899385 0.00001
NM_000376.3(VDR):c.257A>G (p.Asp86Gly) rs534768058 0.00001
NM_000376.3(VDR):c.274G>A (p.Glu92Lys) rs1211812683 0.00001
NM_000376.3(VDR):c.311G>A (p.Arg104Gln) rs749763626 0.00001
NM_000376.3(VDR):c.460C>T (p.Arg154Trp) rs746619116 0.00001
NM_000376.3(VDR):c.755+13T>C rs768024598 0.00001
NM_000376.3(VDR):c.803T>C (p.Ile268Thr) rs1164008328 0.00001
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000376.3(VDR):c.941T>G (p.Ile314Ser) rs121909799 0.00001
NM_000376.3(VDR):c.972C>T (p.Asn324=) rs754559635 0.00001
NM_000388.4(CASR):c.*1298A>G rs1470056406 0.00001
NM_000388.4(CASR):c.*625G>A rs886057833 0.00001
NM_000388.4(CASR):c.-10C>T rs753659949 0.00001
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002 0.00001
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541 0.00001
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851 0.00001
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) rs148573275 0.00001
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu) rs377282860 0.00001
NM_000388.4(CASR):c.118A>G (p.Ile40Val) rs1458833527 0.00001
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) rs202101164 0.00001
NM_000388.4(CASR):c.1283C>T (p.Ala428Val) rs895543540 0.00001
NM_000388.4(CASR):c.1297G>C (p.Asp433His) rs199511990 0.00001
NM_000388.4(CASR):c.1452C>T (p.Asp484=) rs776775141 0.00001
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) rs140347078 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) rs768660050 0.00001
NM_000388.4(CASR):c.1887T>C (p.Phe629=) rs750220557 0.00001
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) rs1185593894 0.00001
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724 0.00001
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) rs199957040 0.00001
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) rs768204447 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000388.4(CASR):c.2046G>A (p.Pro682=) rs760450976 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000388.4(CASR):c.2139C>T (p.Ser713=) rs200384325 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610 0.00001
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256 0.00001
NM_000388.4(CASR):c.232A>G (p.Ile78Val) rs769294626 0.00001
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) rs746541034 0.00001
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser) rs200777304 0.00001
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) rs1392921552 0.00001
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) rs200883282 0.00001
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439 0.00001
NM_000388.4(CASR):c.2738C>T (p.Ser913Phe) rs751273631 0.00001
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) rs201517907 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.2994G>A (p.Leu998=) rs200260696 0.00001
NM_000388.4(CASR):c.3018G>A (p.Thr1006=) rs748637478 0.00001
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712 0.00001
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp) rs769439564 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) rs749748004 0.00001
NM_000388.4(CASR):c.614G>A (p.Arg205His) rs763162046 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.738C>T (p.Tyr246=) rs895337411 0.00001
NM_000388.4(CASR):c.813C>A (p.Ser271=) rs759939185 0.00001
NM_000388.4(CASR):c.857G>A (p.Arg286His) rs922511747 0.00001
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) rs755997016 0.00001
NM_000388.4(CASR):c.98T>G (p.Ile33Ser) rs758232331 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000444.6(PHEX):c.1008C>T (p.Ser336=) rs775973349 0.00001
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile) rs766990714 0.00001
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His) rs1036644594 0.00001
NM_000444.6(PHEX):c.1966-10C>G rs771050789 0.00001
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala) rs201394441 0.00001
NM_000444.6(PHEX):c.285C>G (p.Pro95=) rs1057515842 0.00001
NM_000785.4(CYP27B1):c.*295G>A rs886049724 0.00001
NM_000785.4(CYP27B1):c.*472C>A rs886049721 0.00001
NM_000785.4(CYP27B1):c.*76G>A rs147119803 0.00001
NM_000785.4(CYP27B1):c.117C>T (p.Asp39=) rs764141450 0.00001
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) rs767480544 0.00001
NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His) rs762550487 0.00001
NM_000785.4(CYP27B1):c.318G>A (p.Glu106=) rs1300048405 0.00001
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=) rs546648396 0.00001
NM_000785.4(CYP27B1):c.589+1G>A rs761780097 0.00001
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) rs1318459336 0.00001
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val) rs200953235 0.00001
NM_001177316.2(SLC34A3):c.1057C>T (p.Arg353Cys) rs750292913 0.00001
NM_001177316.2(SLC34A3):c.1063G>A (p.Ala355Thr) rs138702939 0.00001
NM_001177316.2(SLC34A3):c.1183T>C (p.Phe395Leu) rs560440785 0.00001
NM_001177316.2(SLC34A3):c.1211-3C>A rs1443699350 0.00001
NM_001177316.2(SLC34A3):c.1234C>T (p.Arg412Trp) rs373242362 0.00001
NM_001177316.2(SLC34A3):c.1238C>T (p.Ala413Val) rs121918235 0.00001
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter) rs949841477 0.00001
NM_001177316.2(SLC34A3):c.1252C>G (p.Leu418Val) rs778500281 0.00001
NM_001177316.2(SLC34A3):c.1517T>A (p.Leu506His) rs1017557592 0.00001
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter) rs762610288 0.00001
NM_001177316.2(SLC34A3):c.1629T>C (p.Pro543=) rs545784124 0.00001
NM_001177316.2(SLC34A3):c.1783G>A (p.Ala595Thr) rs748004842 0.00001
NM_001177316.2(SLC34A3):c.312G>A (p.Val104=) rs1040164729 0.00001
NM_001177316.2(SLC34A3):c.448+5G>A rs768893184 0.00001
NM_001177316.2(SLC34A3):c.547G>A (p.Asp183Asn) rs750369891 0.00001
NM_001177316.2(SLC34A3):c.561-9C>T rs1469811548 0.00001
NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly) rs766506036 0.00001
NM_001177316.2(SLC34A3):c.846+1G>A rs754054340 0.00001
NM_001177316.2(SLC34A3):c.868G>A (p.Gly290Ser) rs758514484 0.00001
NM_001177316.2(SLC34A3):c.940G>A (p.Ala314Thr) rs1332288437 0.00001
NM_004407.4(DMP1):c.*27C>T rs765769920 0.00001
NM_004407.4(DMP1):c.*438G>T rs925863986 0.00001
NM_004407.4(DMP1):c.*898G>T rs535279544 0.00001
NM_004407.4(DMP1):c.1333G>A (p.Glu445Lys) rs761098924 0.00001
NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys) rs369921592 0.00001
NM_004407.4(DMP1):c.1448A>C (p.Asn483Thr) rs574215585 0.00001
NM_004407.4(DMP1):c.1490A>T (p.His497Leu) rs376245118 0.00001
NM_004407.4(DMP1):c.542G>A (p.Gly181Asp) rs529731862 0.00001
NM_004407.4(DMP1):c.658C>A (p.Pro220Thr) rs367695473 0.00001
NM_004407.4(DMP1):c.709A>G (p.Met237Val) rs201413886 0.00001
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 0.00001
NM_006208.3(ENPP1):c.*120C>T rs1435986196 0.00001
NM_006208.3(ENPP1):c.*1795A>T rs886061074 0.00001
NM_006208.3(ENPP1):c.*1940T>G rs1752128155 0.00001
NM_006208.3(ENPP1):c.*2130C>T rs886061076 0.00001
NM_006208.3(ENPP1):c.*3885C>T rs1223923900 0.00001
NM_006208.3(ENPP1):c.*4047C>T rs1013601584 0.00001
NM_006208.3(ENPP1):c.*4332C>T rs1446084490 0.00001
NM_006208.3(ENPP1):c.*4369C>T rs1300407002 0.00001
NM_006208.3(ENPP1):c.*536T>C rs184796209 0.00001
NM_006208.3(ENPP1):c.*671T>C rs1022965766 0.00001
NM_006208.3(ENPP1):c.*888C>T rs886061069 0.00001
NM_006208.3(ENPP1):c.1296G>C (p.Lys432Asn) rs886061066 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) rs1452598874 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser) rs1475050245 0.00001
NM_006208.3(ENPP1):c.2311+8A>G rs760047831 0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) rs1782357136 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser) rs1481378734 0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 0.00001
NM_006208.3(ENPP1):c.795+12A>G rs1781980876 0.00001
NM_006208.3(ENPP1):c.802T>C (p.Tyr268His) rs17847050 0.00001
NM_018646.6(TRPV6):c.1447C>T (p.Arg483Trp) rs755916513 0.00001
NM_020638.3(FGF23):c.*1134A>T rs1865034354 0.00001
NM_020638.3(FGF23):c.*1925A>G rs886049397 0.00001
NM_020638.3(FGF23):c.*614G>A rs886049401 0.00001
NM_020638.3(FGF23):c.*93G>A rs886049410 0.00001
NM_020638.3(FGF23):c.138A>G (p.Thr46=) rs368115734 0.00001
NM_020638.3(FGF23):c.457C>G (p.Pro153Ala) rs774018822 0.00001
NM_020638.3(FGF23):c.515C>T (p.Pro172Leu) rs573322878 0.00001
NM_020638.3(FGF23):c.51C>T (p.Cys17=) rs752187740 0.00001
NM_020638.3(FGF23):c.527G>A (p.Arg176Gln) rs104894347 0.00001
NM_020638.3(FGF23):c.57G>A (p.Met19Ile) rs766148024 0.00001
NM_024514.5(CYP2R1):c.1001-5G>C rs782338771 0.00001
NM_024514.5(CYP2R1):c.595C>T (p.Arg199Ter) rs782285382 0.00001
NM_024514.5(CYP2R1):c.950A>G (p.Asn317Ser) rs147626987 0.00001
NM_024529.4(CDC73):c.-186C>G rs886045710 0.00001
NM_024529.5(CDC73):c.*1292C>T rs895043816 0.00001
NM_024529.5(CDC73):c.*1535A>G rs1011765527 0.00001
NM_024529.5(CDC73):c.*1660A>G rs1310867519 0.00001
NM_024529.5(CDC73):c.*2651T>G rs886045730 0.00001
NM_024529.5(CDC73):c.*298A>T rs1678035186 0.00001
NM_024529.5(CDC73):c.*3063G>A rs182545034 0.00001
NM_024529.5(CDC73):c.*3714T>C rs886045737 0.00001
NM_024529.5(CDC73):c.*3783C>T rs1337028451 0.00001
NM_024529.5(CDC73):c.*3785A>G rs886045738 0.00001
NM_024529.5(CDC73):c.*3875A>G rs1678100975 0.00001
NM_024529.5(CDC73):c.*972A>G rs886045717 0.00001
NM_024529.5(CDC73):c.-121G>A rs886045711 0.00001
NM_024529.5(CDC73):c.-135C>T rs1675456932 0.00001
NM_024529.5(CDC73):c.-167A>G rs1156904196 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024529.5(CDC73):c.1066+5G>A rs1018448425 0.00001
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) rs776519655 0.00001
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu) rs774536123 0.00001
NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu) rs587778167 0.00001
NM_024529.5(CDC73):c.1248C>T (p.Gly416=) rs780906083 0.00001
NM_024529.5(CDC73):c.1255A>G (p.Ile419Val) rs1198867364 0.00001
NM_024529.5(CDC73):c.138A>T (p.Gly46=) rs1572142522 0.00001
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg) rs1678015324 0.00001
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln) rs1465509067 0.00001
NM_024529.5(CDC73):c.1551A>G (p.Thr517=) rs752668844 0.00001
NM_024529.5(CDC73):c.1559+20A>G rs1281829953 0.00001
NM_024529.5(CDC73):c.1575T>G (p.His525Gln) rs1378278674 0.00001
NM_024529.5(CDC73):c.280C>T (p.Leu94=) rs747811573 0.00001
NM_024529.5(CDC73):c.315G>A (p.Ser105=) rs771258964 0.00001
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala) rs763095800 0.00001
NM_024529.5(CDC73):c.370+17A>G rs760583012 0.00001
NM_024529.5(CDC73):c.519G>A (p.Leu173=) rs749039338 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_024529.5(CDC73):c.730-14C>G rs183077646 0.00001
NM_024529.5(CDC73):c.754A>G (p.Ile252Val) rs374290883 0.00001
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys) rs878855091 0.00001
NM_024529.5(CDC73):c.803G>A (p.Arg268Gln) rs750706815 0.00001
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser) rs758391256 0.00001
NM_024529.5(CDC73):c.842G>A (p.Arg281His) rs762716583 0.00001
NM_024529.5(CDC73):c.973-23487G>A rs765816443 0.00001
NM_054027.6(ANKH):c.*1058C>T rs886060084 0.00001
NM_054027.6(ANKH):c.*1137A>C rs1451711728 0.00001
NM_054027.6(ANKH):c.*1451T>C rs1224951926 0.00001
NM_054027.6(ANKH):c.*1470G>A rs1161044546 0.00001
NM_054027.6(ANKH):c.*147T>A rs377727408 0.00001
NM_054027.6(ANKH):c.*1894T>C rs1017314538 0.00001
NM_054027.6(ANKH):c.*2428G>C rs886060077 0.00001
NM_054027.6(ANKH):c.*2511C>T rs575930682 0.00001
NM_054027.6(ANKH):c.*2644G>C rs886060076 0.00001
NM_054027.6(ANKH):c.*2959T>C rs919414377 0.00001
NM_054027.6(ANKH):c.*30C>T rs772604835 0.00001
NM_054027.6(ANKH):c.*3559G>C rs886060074 0.00001
NM_054027.6(ANKH):c.*3698T>A rs563873078 0.00001
NM_054027.6(ANKH):c.*5062A>G rs937136472 0.00001
NM_054027.6(ANKH):c.*5725G>T rs187007081 0.00001
NM_054027.6(ANKH):c.*5906T>C rs1423821590 0.00001
NM_054027.6(ANKH):c.*6041T>C rs886060066 0.00001
NM_054027.6(ANKH):c.*700G>A rs765103863 0.00001
NM_054027.6(ANKH):c.*96T>C rs1561015789 0.00001
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) rs886060088 0.00001
NM_054027.6(ANKH):c.1278G>A (p.Ala426=) rs568804732 0.00001
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val) rs761698657 0.00001
NM_054027.6(ANKH):c.156C>T (p.Tyr52=) rs745669233 0.00001
NM_054027.6(ANKH):c.282G>A (p.Gly94=) rs760249447 0.00001
NM_054027.6(ANKH):c.39G>C (p.Leu13=) rs748751320 0.00001
NM_054027.6(ANKH):c.937G>A (p.Val313Met) rs1490930729 0.00001
CDC73, 41-BP DUP/INS
GRCh37/hg19 12p13.32(chr12:4477393-4488878)
GRCh38/hg38 Xp22.11(chrX:22072604-22125554)x3
GRCh38/hg38 Xp22.12-22.11(chrX:21743750-22114586)x3
NC_000012.12:g.57768302G>T
NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del
NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del
NC_000023.10:g.(22208620_22231047)_(22266070_?)del
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del
NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
NC_000023.10:g.(22237221_22239729)_(22266070_?)del
NC_000023.10:g.(22239861_22244559)_(22266070_?)del
NC_000023.10:g.(22245729_22263449)_(22266070_?)del
NC_000023.10:g.(?_22051124)_(22051242_22056586)del
NC_000023.10:g.22256748_22370988del114241
NC_000023.11:g.22130083_22232038dup
NC_000023.11:g.22213388_22345581del
NC_000023.11:g.22243338_22690207del
NM_000376.3(VDR):c.*111C>A rs886049435
NM_000376.3(VDR):c.*1505G>A rs1036167478
NM_000376.3(VDR):c.*1906C>A rs9729
NM_000376.3(VDR):c.*1906C>G rs9729
NM_000376.3(VDR):c.*2034A>T rs886049424
NM_000376.3(VDR):c.*2102C>A rs371312471
NM_000376.3(VDR):c.*2226C>T rs11574136
NM_000376.3(VDR):c.*2359C>A rs886049416
NM_000376.3(VDR):c.*2529G>A rs771839812
NM_000376.3(VDR):c.*2878A>G rs886049412
NM_000376.3(VDR):c.*387C>G rs886049433
NM_000376.3(VDR):c.*404C>T rs547101168
NM_000376.3(VDR):c.*623A>G rs1945224092
NM_000376.3(VDR):c.*70C>T rs886049436
NM_000376.3(VDR):c.*827C>T rs886049430
NM_000376.3(VDR):c.*97G>A rs548542386
NM_000376.3(VDR):c.-2-1G>A
NM_000376.3(VDR):c.-84+5022C>A rs11168293
NM_000376.3(VDR):c.-84+5083G>T rs527937423
NM_000376.3(VDR):c.-84+5133G>C rs11168292
NM_000376.3(VDR):c.-84+5133G>T rs11168292
NM_000376.3(VDR):c.1027C>T (p.Arg343Cys) rs1057521095
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.1103G>T (p.Arg368Leu) rs376903517
NM_000376.3(VDR):c.1104_1105inv (p.Cys369Gly)
NM_000376.3(VDR):c.1121C>G (p.Pro374Arg) rs200556498
NM_000376.3(VDR):c.1171C>A (p.Arg391Ser) rs121909800
NM_000376.3(VDR):c.1171C>T (p.Arg391Cys) rs121909800
NM_000376.3(VDR):c.1172G>A (p.Arg391His)
NM_000376.3(VDR):c.1190A>C (p.His397Pro) rs886037890
NM_000376.3(VDR):c.1204C>T (p.Arg402Cys)
NM_000376.3(VDR):c.1229G>T (p.Cys410Phe) rs1945243453
NM_000376.3(VDR):c.137G>A (p.Gly46Asp) rs121909797
NM_000376.3(VDR):c.146+1G>T
NM_000376.3(VDR):c.148C>T (p.Arg50Ter) rs201106427
NM_000376.3(VDR):c.220C>A (p.Arg74Ser)
NM_000376.3(VDR):c.227G>T (p.Cys76Phe) rs1565618291
NM_000376.3(VDR):c.239G>A (p.Arg80Gln) rs121909793
NM_000376.3(VDR):c.278-5C>T rs551270527
NM_000376.3(VDR):c.2T>G (p.Met1Arg) rs2228570
NM_000376.3(VDR):c.366del (p.Lys123fs) rs1592107753
NM_000376.3(VDR):c.446A>G (p.Asp149Gly)
NM_000376.3(VDR):c.454C>T (p.Gln152Ter) rs121909795
NM_000376.3(VDR):c.565C>A (p.His189Asn) rs778063507
NM_000376.3(VDR):c.670C>T (p.Leu224Phe)
NM_000376.3(VDR):c.702C>A (p.Val234=)
NM_000376.3(VDR):c.820C>T (p.Arg274Cys) rs757881350
NM_000376.3(VDR):c.821G>A (p.Arg274His) rs121909796
NM_000376.3(VDR):c.821G>T (p.Arg274Leu) rs121909796
NM_000376.3(VDR):c.856T>C (p.Trp286Arg)
NM_000376.3(VDR):c.86A>G (p.Asp29Gly) rs1280836121
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) rs121909792
NM_000376.3(VDR):c.915C>G (p.His305Gln) rs121909798
NM_000376.3(VDR):c.945G>T (p.Lys315Asn) rs886049437
NM_000376.3(VDR):c.967C>G (p.Leu323Val)
NM_000376.3(VDR):c.985G>A (p.Glu329Lys) rs121909802
NM_000376.3(VDR):c.985G>C (p.Glu329Gln)
NM_000376.3(VDR):c.98G>A (p.Gly33Asp) rs121909790
NM_000388.4(CASR):c.*1011T>A rs922763349
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.-378del rs537119483
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1116C>T (p.Thr372=) rs539867627
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys) rs201338034
NM_000388.4(CASR):c.115C>G (p.Pro39Ala) rs121909262
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1164G>A (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1192G>T (p.Asp398Tyr) rs201177696
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys) rs1171102282
NM_000388.4(CASR):c.121C>A (p.His41Asn)
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser) rs1553766916
NM_000388.4(CASR):c.130G>A (p.Val44Ile) rs2074530467
NM_000388.4(CASR):c.1354A>G (p.Ile452Val) rs756206452
NM_000388.4(CASR):c.1390C>G (p.Leu464Val) rs778165189
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.139A>G (p.Lys47Glu) rs2107624989
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) rs2107643445
NM_000388.4(CASR):c.1465T>C (p.Tyr489His)
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) rs1156349993
NM_000388.4(CASR):c.1609-2A>G rs761084315
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg) rs104893719
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu) rs1576875835
NM_000388.4(CASR):c.1672dup (p.Glu558fs) rs2107648305
NM_000388.4(CASR):c.1693T>C (p.Cys565Arg) rs1559967708
NM_000388.4(CASR):c.1711G>T (p.Gly571Trp)
NM_000388.4(CASR):c.1742C>T (p.Ala581Val)
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1745G>T (p.Cys582Phe) rs104893690
NM_000388.4(CASR):c.1786A>C (p.Thr596Pro)
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.183C>T (p.Ile61=) rs2074531684
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) rs199513106
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) rs2107649522
NM_000388.4(CASR):c.185G>T (p.Arg62Met) rs121909265
NM_000388.4(CASR):c.186-1G>T rs797044441
NM_000388.4(CASR):c.1906A>T (p.Lys636Ter)
NM_000388.4(CASR):c.190A>G (p.Asn64Asp) rs2107627423
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu) rs104893700
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) rs1576877437
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) rs2107627458
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2113_2115del (p.Val705del)
NM_000388.4(CASR):c.2156G>A (p.Trp719Ter) rs2107650046
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) rs759337909
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) rs869320729
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) rs193922433
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) rs1453953571
NM_000388.4(CASR):c.2293T>C (p.Cys765Arg) rs1363412937
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn) rs754332943
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser) rs754332943
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile) rs754332943
NM_000388.4(CASR):c.2360G>A (p.Cys787Tyr)
NM_000388.4(CASR):c.2384G>T (p.Arg795Leu) rs549975115
NM_000388.4(CASR):c.2439C>T (p.Ile813=) rs1228810304
NM_000388.4(CASR):c.2446A>G (p.Ile816Val) rs2107650518
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2482A>C (p.Thr828Pro) rs794729230
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr) rs2074939751
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2525T>C (p.Leu842Pro)
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.254C>T (p.Pro85Leu)
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn) rs766445416
NM_000388.4(CASR):c.2637C>G (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.2639C>T (p.Ala880Val)
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) rs104893704
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) rs749125441
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) rs104893709
NM_000388.4(CASR):c.2878C>T (p.Pro960Ser) rs1352202616
NM_000388.4(CASR):c.2912_2913delinsTT (p.Gly971Val)
NM_000388.4(CASR):c.2938del (p.Asp980fs)
NM_000388.4(CASR):c.294T>G (p.Phe98Leu) rs878853976
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) rs1244383237
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.38T>C (p.Leu13Pro) rs104893717
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.416T>C (p.Ile139Thr) rs1060502860
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.4(CASR):c.43T>G (p.Trp15Gly)
NM_000388.4(CASR):c.493-12G>T rs199514129
NM_000388.4(CASR):c.493-2A>C rs1576857818
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_000388.4(CASR):c.501T>A (p.Tyr167Ter) rs387907394
NM_000388.4(CASR):c.503C>T (p.Ala168Val) rs1576857840
NM_000388.4(CASR):c.508T>C (p.Ser170Pro) rs1060502862
NM_000388.4(CASR):c.511A>G (p.Ser171Gly)
NM_000388.4(CASR):c.516A>T (p.Arg172Ser) rs1114167368
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) rs1060502849
NM_000388.4(CASR):c.539T>G (p.Phe180Cys) rs121909268
NM_000388.4(CASR):c.54T>G (p.Ser18=) rs558522564
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.610T>A (p.Phe204Ile) rs1060499700
NM_000388.4(CASR):c.611dup (p.Arg205fs)
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000388.4(CASR):c.662C>A (p.Pro221Gln) rs397514728
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.664G>A (p.Gly222Arg) rs2107632066
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) rs1060502843
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000388.4(CASR):c.876C>T (p.Ile292=) rs772232871
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259
NM_000388.4:c.2628_2629insAlu
NM_000444.4(PHEX):c.[755T>C;759G>A]
NM_000444.5(PHEX):c.(1965_2071)dup (p.Ala(1965_2071)Glyfs)
NM_000444.6(PHEX):c.*250A>C rs1057515844
NM_000444.6(PHEX):c.*388A>G rs759086924
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000444.6(PHEX):c.-126C>A rs185830047
NM_000444.6(PHEX):c.1005dup (p.Ser336fs)
NM_000444.6(PHEX):c.1010del (p.Glu337fs)
NM_000444.6(PHEX):c.101del (p.Gly34fs) rs1602241023
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp) rs1556026027
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) rs376461141
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter) rs773436322
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) rs2147047501
NM_000444.6(PHEX):c.1079+5G>A rs1556026071
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val) rs936722686
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg) rs1602303865
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter) rs1556029499
NM_000444.6(PHEX):c.1104G>A (p.Trp368Ter) rs1930963615
NM_000444.6(PHEX):c.1133T>G (p.Leu378Arg)
NM_000444.6(PHEX):c.1134del (p.Ser379fs) rs1556029516
NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp) rs1556029519
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter) rs1602304005
NM_000444.6(PHEX):c.1173+1G>A rs1064793227
NM_000444.6(PHEX):c.1174-10_1174-1del
NM_000444.6(PHEX):c.1174-1G>A rs2147065556
NM_000444.6(PHEX):c.1174-3C>G rs1446526598
NM_000444.6(PHEX):c.118+1G>A rs1131691731
NM_000444.6(PHEX):c.118+1G>T rs1131691731
NM_000444.6(PHEX):c.119-1G>A rs2146979490
NM_000444.6(PHEX):c.119-1G>C rs2146979490
NM_000444.6(PHEX):c.119-3C>G rs1556012055
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) rs1602307078
NM_000444.6(PHEX):c.1215del (p.Lys405fs) rs1602307094
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg) rs1556030465
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr) rs1602307107
NM_000444.6(PHEX):c.1217G>T (p.Cys406Phe)
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.1266del (p.Phe422fs) rs2147065739
NM_000444.6(PHEX):c.1269del (p.Asp424fs) rs1556030487
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter) rs1556030502
NM_000444.6(PHEX):c.1302+2T>A rs2147065825
NM_000444.6(PHEX):c.1303-1G>C rs1556036014
NM_000444.6(PHEX):c.1303-2A>G
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter) rs1341755128
NM_000444.6(PHEX):c.1313del (p.Leu438fs) rs1932102521
NM_000444.6(PHEX):c.1318G>T (p.Glu440Ter)
NM_000444.6(PHEX):c.1324del (p.Val442fs) rs1602324484
NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs) rs2147086366
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter) rs2147086395
NM_000444.6(PHEX):c.135_136del (p.Leu47fs) rs1602244774
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter) rs886041359
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu) rs2147086514
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter) rs1602324630
NM_000444.6(PHEX):c.1404+1G>C rs2147086611
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn) rs754449807
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1425del (p.Val476fs) rs1602354302
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter) rs202074612
NM_000444.6(PHEX):c.142dup (p.Gln48fs) rs2146979520
NM_000444.6(PHEX):c.1474del (p.Leu492fs)
NM_000444.6(PHEX):c.1479dup (p.Ala494fs) rs2147118833
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1482+1del
NM_000444.6(PHEX):c.1482+5G>C rs1269067103
NM_000444.6(PHEX):c.1482dup (p.Ile495fs) rs2147118855
NM_000444.6(PHEX):c.1483-2A>G rs1556070724
NM_000444.6(PHEX):c.1483A>G (p.Ile495Val)
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln) rs1602363343
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del) rs2147128134
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) rs1556070890
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro) rs915608304
NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter) rs886041361
NM_000444.6(PHEX):c.1560del (p.Trp520fs) rs1556071086
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs) rs1556071123
NM_000444.6(PHEX):c.1572dup (p.Val525fs) rs1556071138
NM_000444.6(PHEX):c.1586+14A>T rs771287470
NM_000444.6(PHEX):c.1586+1G>A rs1064796928
NM_000444.6(PHEX):c.1586+2T>G rs1057518377
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1586+5G>A rs1602363550
NM_000444.6(PHEX):c.1586_1586+1del rs886041362
NM_000444.6(PHEX):c.1587-1G>A rs886041839
NM_000444.6(PHEX):c.1587-2145_1645+3342del
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) rs193922455
NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys) rs1556091855
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.1645+3G>C
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.1646-2A>C rs2147164011
NM_000444.6(PHEX):c.1646-2A>G rs2147164011
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro) rs1602395717
NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs) rs1556128043
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) rs137853270
NM_000444.6(PHEX):c.1677_1680del (p.Phe560fs)
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1700+2T>C rs1556128253
NM_000444.6(PHEX):c.1700+5G>A rs2147164144
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys) rs1064795106
NM_000444.6(PHEX):c.1717G>A (p.Ala573Thr)
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp) rs1556135308
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val) rs1556135308
NM_000444.6(PHEX):c.1718del (p.Ala573fs) rs2147171155
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1739A>G (p.His580Arg) rs1057521800
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) rs1602402229
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr) rs1602402258
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg) rs1556135467
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu) rs1556135477
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser) rs772130004
NM_000444.6(PHEX):c.1768+173A>G rs1602402549
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000444.6(PHEX):c.1769-1G>A rs1602405079
NM_000444.6(PHEX):c.1769-1G>C rs1602405079
NM_000444.6(PHEX):c.1769-1G>T rs1602405079
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser) rs1602244810
NM_000444.6(PHEX):c.176G>T (p.Cys59Phe)
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter) rs1556138407
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter) rs1935269189
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter) rs886041364
NM_000444.6(PHEX):c.1790dup (p.Asn598fs)
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
NM_000444.6(PHEX):c.1808G>C (p.Trp603Ser)
NM_000444.6(PHEX):c.1809dup (p.Ser604fs) rs1602405176
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) rs770630990
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) rs1602405239
NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer) rs1556138590
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter) rs2147174526
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) rs886041367
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs) rs2147174569
NM_000444.6(PHEX):c.185dup (p.Ala63fs) rs1602244836
NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter)
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro) rs1602405293
NM_000444.6(PHEX):c.187+1G>C rs1556012100
NM_000444.6(PHEX):c.187+1G>T rs1556012100
NM_000444.6(PHEX):c.187+1del rs1556012094
NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter)
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter) rs1400504292
NM_000444.6(PHEX):c.188-1G>C rs1927567325
NM_000444.6(PHEX):c.188-2A>C
NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs) rs1556138742
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.1899+2113_1957del
NM_000444.6(PHEX):c.1899+2T>G rs1602405375
NM_000444.6(PHEX):c.1910dup (p.Arg638fs) rs1556148392
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
NM_000444.6(PHEX):c.1936G>C (p.Asp646His) rs1556148532
NM_000444.6(PHEX):c.1936_1939dup (p.Asn647delinsArgTer) rs886041368
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) rs193922456
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup) rs1602411514
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro) rs748792378
NM_000444.6(PHEX):c.1965+1G>A rs1240767654
NM_000444.6(PHEX):c.1966-1G>T rs1064795147
NM_000444.6(PHEX):c.1966-9_1966-7del rs1556151004
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter) rs1556151071
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) rs886041369
NM_000444.6(PHEX):c.1985_1988dup (p.Asp663delinsGluTer)
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) rs1556151137
NM_000444.6(PHEX):c.1996_1999del (p.Gln666fs)
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter) rs193922457
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del) rs1602412679
NM_000444.6(PHEX):c.2008G>A (p.Glu670Lys) rs2147184646
NM_000444.6(PHEX):c.2009A>T (p.Glu670Val) rs2147184651
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter) rs2146987638
NM_000444.6(PHEX):c.2028_2032del (p.Thr677fs)
NM_000444.6(PHEX):c.202del (p.Ser68fs)
NM_000444.6(PHEX):c.2040C>A (p.Asn680Lys) rs1556151526
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter) rs1556151545
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter) rs886041372
NM_000444.6(PHEX):c.2070+601C>T
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_000444.6(PHEX):c.2071-1G>C rs886041374
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr) rs1556200989
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser) rs1556200989
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp) rs1064796845
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs) rs2147213985
NM_000444.6(PHEX):c.2093del (p.Pro698fs) rs1556201034
NM_000444.6(PHEX):c.20_21del (p.Ser7fs) rs1602240926
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2125del (p.Ala709fs) rs1602439597
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile) rs2147214114
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) rs1602439611
NM_000444.6(PHEX):c.2139del (p.Gln714fs) rs2147214136
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) rs1569442206
NM_000444.6(PHEX):c.2147+2T>G rs1602439662
NM_000444.6(PHEX):c.2147+3A>T rs1556201217
NM_000444.6(PHEX):c.2148-10C>A
NM_000444.6(PHEX):c.2148-2A>G rs1556205815
NM_000444.6(PHEX):c.2150T>G (p.Val717Gly)
NM_000444.6(PHEX):c.2156G>C (p.Gly719Ala)
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser) rs1057517981
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe) rs1057517981
NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs) rs1556206093
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg) rs1602442819
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs) rs1556206335
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg) rs1556206403
NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu)
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp) rs1602442871
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe) rs1556014263
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)
NM_000444.6(PHEX):c.253T>C (p.Cys85Arg) rs1556014287
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) rs137853269
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser) rs137853269
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe) rs137853269
NM_000444.6(PHEX):c.275del (p.Asn92fs)
NM_000444.6(PHEX):c.292dup (p.Met98fs)
NM_000444.6(PHEX):c.305G>T (p.Gly102Val) rs2146987874
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.349+1G>A rs193922459
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.350-1G>A rs2147019098
NM_000444.6(PHEX):c.367_370del (p.Ile123fs) rs1602273769
NM_000444.6(PHEX):c.37_38del (p.Lys13fs) rs2146974254
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) rs151306376
NM_000444.6(PHEX):c.3G>A (p.Met1Ile) rs1926865530
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn) rs1556020460
NM_000444.6(PHEX):c.419C>A (p.Ser140Ter)
NM_000444.6(PHEX):c.420A>G (p.Ser140=) rs1158378032
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro) rs2147019252
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe) rs1602273900
NM_000444.6(PHEX):c.424del (p.Cys142fs) rs1556020474
NM_000444.6(PHEX):c.433G>T (p.Glu145Ter) rs2147019297
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.436+4A>T rs1057520344
NM_000444.6(PHEX):c.436+5G>A rs1602273945
NM_000444.6(PHEX):c.436+5G>T rs1602273945
NM_000444.6(PHEX):c.436+6T>C rs1556020485
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.460A>T (p.Lys154Ter) rs1929202828
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro) rs1556020752
NM_000444.6(PHEX):c.468del (p.Leu157fs) rs2147020412
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770
NM_000444.6(PHEX):c.535del (p.Val179fs) rs2147020604
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) rs1602274883
NM_000444.6(PHEX):c.546_549del (p.Arg183fs) rs1556020798
NM_000444.6(PHEX):c.559del (p.Leu187fs) rs1602274893
NM_000444.6(PHEX):c.582del (p.Arg195fs) rs1602274929
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) rs770573978
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.593del (p.Tyr198fs) rs1602274950
NM_000444.6(PHEX):c.613del (p.Arg205fs) rs1929214770
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
NM_000444.6(PHEX):c.645_652del (p.Asn216fs) rs1929218157
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter) rs1929219058
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553
NM_000444.6(PHEX):c.663G>A (p.Lys221=) rs1929220357
NM_000444.6(PHEX):c.664-1G>T rs886041529
NM_000444.6(PHEX):c.673del (p.Ala225fs) rs2147035468
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile) rs1556023495
NM_000444.6(PHEX):c.682_683del (p.Ser228fs) rs1064793956
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843
NM_000444.6(PHEX):c.704del (p.Tyr235fs) rs1556023503
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter) rs2147035526
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro) rs1556023505
NM_000444.6(PHEX):c.724del (p.Ala242fs) rs1929832980
NM_000444.6(PHEX):c.732+3_732+6del rs2147035589
NM_000444.6(PHEX):c.732+5G>A rs1556023528
NM_000444.6(PHEX):c.732+5G>C rs1556023528
NM_000444.6(PHEX):c.733-1G>C rs886041223
NM_000444.6(PHEX):c.78dup (p.Val27fs) rs1556010757
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs) rs1602240890
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro) rs2147040261
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) rs137853268
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter) rs1556024541
NM_000444.6(PHEX):c.842T>G (p.Ile281Arg)
NM_000444.6(PHEX):c.846del (p.Glu283fs)
NM_000444.6(PHEX):c.849+1268G>T rs919011936
NM_000444.6(PHEX):c.849_849+2del rs1602288211
NM_000444.6(PHEX):c.850-2A>G rs1064793226
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter) rs1602290398
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460
NM_000444.6(PHEX):c.887T>C (p.Met296Thr)
NM_000444.6(PHEX):c.931C>T (p.Gln311Ter) rs1321395083
NM_000444.6(PHEX):c.933+1G>T rs1556025314
NM_000444.6(PHEX):c.933+2T>A rs2147043777
NM_000444.6(PHEX):c.934-1G>T rs1602292528
NM_000444.6(PHEX):c.934-2A>G rs1930291143
NM_000444.6(PHEX):c.934-3_934-1delinsTCA rs1556025936
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del) rs1556025968
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
NM_000444.6(PHEX):c.966del (p.Ile322fs)
NM_000444.6(PHEX):c.972_976dup (p.Leu326fs)
NM_000444.6(PHEX):c.985del (p.His329fs) rs1556025994
NM_000785.3(CYP27B1):c.[1319_1325dupCCCACCC];[1358G>A]
NM_000785.4(CYP27B1):c.*215G>C rs557294448
NM_000785.4(CYP27B1):c.*301T>C rs886049723
NM_000785.4(CYP27B1):c.*722C>G rs886049720
NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro) rs28934606
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe) rs118204011
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser) rs28934607
NM_000785.4(CYP27B1):c.1160A>C (p.Asn387Thr) rs2140396410
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly) rs118204010
NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=) rs1200364118
NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr) rs2140396224
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) rs568165874
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.1349_1376del (p.Phe450fs) rs2140396112
NM_000785.4(CYP27B1):c.1376G>C (p.Arg459Pro)
NM_000785.4(CYP27B1):c.1376G>T (p.Arg459Leu)
NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val) rs886049725
NM_000785.4(CYP27B1):c.1388T>C (p.Leu463Pro) rs2140396100
NM_000785.4(CYP27B1):c.1427T>C (p.Phe476Ser)
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) rs763437121
NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs) rs2140397731
NM_000785.4(CYP27B1):c.221C>T (p.Pro74Leu)
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs) rs2140397692
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) rs1057520815
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) rs28934604
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu)
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) rs28934605
NM_000785.4(CYP27B1):c.374G>T (p.Gly125Val)
NM_000785.4(CYP27B1):c.386+14G>A rs373607899
NM_000785.4(CYP27B1):c.386+14G>T rs373607899
NM_000785.4(CYP27B1):c.386+1G>A rs770204470
NM_000785.4(CYP27B1):c.386C>T (p.Ala129Val) rs2140397587
NM_000785.4(CYP27B1):c.403C>T (p.Gln135Ter) rs2140397262
NM_000785.4(CYP27B1):c.437T>A (p.Leu146His) rs886049728
NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) rs777612495
NM_000785.4(CYP27B1):c.480_481dup (p.Val161fs)
NM_000785.4(CYP27B1):c.48_60del (p.Glu20fs)
NM_000785.4(CYP27B1):c.490G>A (p.Asp164Asn)
NM_000785.4(CYP27B1):c.497_500del (p.Val166fs) rs2140397164
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly) rs118204012
NM_000785.4(CYP27B1):c.57_69del (p.Glu20fs)
NM_000785.4(CYP27B1):c.623G>T (p.Gly208Val) rs2140397019
NM_000785.4(CYP27B1):c.631del (p.Glu211fs) rs387906258
NM_000785.4(CYP27B1):c.693del (p.Thr232fs) rs387906259
NM_000785.4(CYP27B1):c.704C>A (p.Thr235Asn)
NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) rs1565811124
NM_000785.4(CYP27B1):c.779T>G (p.Met260Arg)
NM_000785.4(CYP27B1):c.781T>G (p.Phe261Val)
NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys) rs886049727
NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu) rs886049726
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg) rs118204007
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) rs762118198
NM_001017535.1(VDR):c.-263A>C rs963429243
NM_001127898.4(CLCN5):c.1014+1G>A rs2147594243
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter) rs797044808
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001177316.2(SLC34A3):c.1008_1009dup (p.Gly337fs) rs2131415051
NM_001177316.2(SLC34A3):c.1046_1047del (p.Val349fs) rs750178720
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu) rs121918234
NM_001177316.2(SLC34A3):c.1093+41_1094-15del rs1554784508
NM_001177316.2(SLC34A3):c.1142C>A (p.Ala381Glu) rs374826755
NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met) rs138798032
NM_001177316.2(SLC34A3):c.1198G>A (p.Val400Met) rs748862410
NM_001177316.2(SLC34A3):c.1208T>G (p.Met403Arg) rs532292902
NM_001177316.2(SLC34A3):c.1210+17G>A rs202071967
NM_001177316.2(SLC34A3):c.1210G>A (p.Gly404Arg) rs759768852
NM_001177316.2(SLC34A3):c.1217G>T (p.Gly406Val) rs139408872
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001177316.2(SLC34A3):c.1247del (p.Leu416fs)
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs) rs757714479
NM_001177316.2(SLC34A3):c.1256G>A (p.Gly419Asp)
NM_001177316.2(SLC34A3):c.1267G>A (p.Gly423Ser)
NM_001177316.2(SLC34A3):c.1273A>G (p.Thr425Ala)
NM_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile) rs1060499697
NM_001177316.2(SLC34A3):c.1326C>T (p.Ser442=) rs144275345
NM_001177316.2(SLC34A3):c.1334A>G (p.Gln445Arg) rs1588849958
NM_001177316.2(SLC34A3):c.1336-11_1336-1del rs2131423939
NM_001177316.2(SLC34A3):c.1351TTC[2] (p.Phe453del) rs761662543
NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter) rs777986863
NM_001177316.2(SLC34A3):c.1402C>A (p.Arg468=) rs121918238
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp) rs121918238
NM_001177316.2(SLC34A3):c.1462G>C (p.Ala488Pro) rs149389629
NM_001177316.2(SLC34A3):c.1556dup (p.Pro520fs) rs1554785333
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.1576CTC[1] (p.Leu527del) rs776275610
NM_001177316.2(SLC34A3):c.1622G>A (p.Trp541Ter)
NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs) rs1554785389
NM_001177316.2(SLC34A3):c.176-1G>A
NM_001177316.2(SLC34A3):c.176-9T>G
NM_001177316.2(SLC34A3):c.1796T>A (p.Leu599Ter)
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del) rs532224704
NM_001177316.2(SLC34A3):c.195_215dup (p.Arg65_Gly71dup) rs532224704
NM_001177316.2(SLC34A3):c.214_216del (p.Ser72del)
NM_001177316.2(SLC34A3):c.228del (p.Cys77fs) rs794729659
NM_001177316.2(SLC34A3):c.449-14C>A rs545767491
NM_001177316.2(SLC34A3):c.449-9C>G rs377306924
NM_001177316.2(SLC34A3):c.490A>G (p.Asn164Asp)
NM_001177316.2(SLC34A3):c.496G>C (p.Gly166Arg) rs200536604
NM_001177316.2(SLC34A3):c.511A>C (p.Ser171Arg)
NM_001177316.2(SLC34A3):c.528G>A (p.Met176Ile)
NM_001177316.2(SLC34A3):c.544C>T (p.Arg182Trp) rs199747826
NM_001177316.2(SLC34A3):c.560+27_561-38del rs746082077
NM_001177316.2(SLC34A3):c.575C>G (p.Ser192Trp) rs199690076
NM_001177316.2(SLC34A3):c.632G>A (p.Ser211Asn)
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn) rs145877051
NM_001177316.2(SLC34A3):c.751G>C (p.Val251Leu) rs776182012
NM_001177316.2(SLC34A3):c.847-26T>C
NM_001177316.2(SLC34A3):c.870C>A (p.Gly290=) rs747540875
NM_001177316.2(SLC34A3):c.891GAA[1] (p.Lys298del) rs775037904
NM_001177316.2(SLC34A3):c.897C>G (p.Asn299Lys) rs1588846765
NM_001177316.2(SLC34A3):c.908del (p.Pro303fs) rs794729658
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) rs34664302
NM_001177316.2(SLC34A3):c.956C>T (p.Thr319Met) rs769622295
NM_001177316.2(SLC34A3):c.980T>C (p.Leu327Pro) rs1836433909
NM_001370259.2(MEN1):c.1350+1G>A rs863223311
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_004407.4(DMP1):c.*602C>A rs886059689
NM_004407.4(DMP1):c.*808G>A rs1729019747
NM_004407.4(DMP1):c.*850G>A rs570065274
NM_004407.4(DMP1):c.*875T>C rs1729022649
NM_004407.4(DMP1):c.1456A>G (p.Ile486Val) rs886059687
NM_004407.4(DMP1):c.1485_1491del (p.Tyr496fs) rs587776698
NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser) rs377414504
NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) rs1264750963
NM_004407.4(DMP1):c.1A>G (p.Met1Val) rs104893834
NM_004407.4(DMP1):c.289A>G (p.Lys97Glu) rs886059685
NM_004407.4(DMP1):c.332A>G (p.Asp111Gly)
NM_004407.4(DMP1):c.362del (p.Pro121fs) rs587776696
NM_004407.4(DMP1):c.424G>T (p.Asp142Tyr)
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004752.3(GCM2):c.[1136T>A;751C>G]
NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)
NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr) rs2113243235
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup) rs551375300
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu) rs141188465
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
NM_004752.4(GCM2):c.1A>G (p.Met1Val) rs2113257238
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser) rs1561672362
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)
NM_006208.3(ENPP1):c.*103A>G rs934807026
NM_006208.3(ENPP1):c.*121G>C rs11964389
NM_006208.3(ENPP1):c.*1236G>T rs11154649
NM_006208.3(ENPP1):c.*1290T>A rs886061073
NM_006208.3(ENPP1):c.*1299C>T rs11965061
NM_006208.3(ENPP1):c.*150G>A rs571779819
NM_006208.3(ENPP1):c.*1618A>G rs1782479055
NM_006208.3(ENPP1):c.*1864T>C rs1782482761
NM_006208.3(ENPP1):c.*2073C>G rs541153028
NM_006208.3(ENPP1):c.*2129T>C rs886061075
NM_006208.3(ENPP1):c.*2543T>G rs1782491483
NM_006208.3(ENPP1):c.*3600G>T rs573224206
NM_006208.3(ENPP1):c.*38G>A rs191654371
NM_006208.3(ENPP1):c.*392G>A rs1782461266
NM_006208.3(ENPP1):c.*4014C>A rs774267525
NM_006208.3(ENPP1):c.*4287G>A rs1782525012
NM_006208.3(ENPP1):c.*4507A>G rs1017283996
NM_006208.3(ENPP1):c.*4620G>T rs1782530336
NM_006208.3(ENPP1):c.*516T>C rs1782462977
NM_006208.3(ENPP1):c.*577G>A rs891388334
NM_006208.3(ENPP1):c.*772A>G rs34608785
NM_006208.3(ENPP1):c.*772A>T rs34608785
NM_006208.3(ENPP1):c.*848T>C rs1782467588
NM_006208.3(ENPP1):c.*902G>A rs572823916
NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn) rs941474086
NM_006208.3(ENPP1):c.1273+1G>A rs755969803
NM_006208.3(ENPP1):c.1437+3_1437+6del rs747843796
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006208.3(ENPP1):c.165G>A (p.Val55=) rs768034745
NM_006208.3(ENPP1):c.1724-1G>T
NM_006208.3(ENPP1):c.1724-5T>G rs369585711
NM_006208.3(ENPP1):c.1742C>T (p.Pro581Leu)
NM_006208.3(ENPP1):c.1946-14T>C rs886061067
NM_006208.3(ENPP1):c.195_197delinsAA (p.Ala66fs)
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs) rs2114643507
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr) rs748292010
NM_006208.3(ENPP1):c.2192del (p.Asn731fs) rs2114726975
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter) rs2114727013
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) rs587776797
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_006208.3(ENPP1):c.2444+10T>C rs947631280
NM_006208.3(ENPP1):c.2444+702_*868del
NM_006208.3(ENPP1):c.26dup (p.Gly10fs) rs1470739291
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) rs121908249
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT rs879243445
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486
NM_006208.3(ENPP1):c.332G>A (p.Arg111His) rs749866787
NM_006208.3(ENPP1):c.430+1del rs1554278331
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter) rs1805101
NM_006208.3(ENPP1):c.574del (p.Glu192fs) rs1234826768
NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser) rs752171315
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006208.3(ENPP1):c.915+1G>A rs2114702198
NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg) rs1327315227
NM_018646.6(TRPV6):c.1744G>A (p.Asp582Asn) rs745903672
NM_018646.6(TRPV6):c.1969G>A (p.Gly657Arg)
NM_018646.6(TRPV6):c.254G>A (p.Trp85Ter)
NM_018646.6(TRPV6):c.524C>T (p.Ala175Val) rs1795093724
NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs) rs766719790
NM_018646.6(TRPV6):c.607+5G>A rs1200458339
NM_018646.6(TRPV6):c.614A>G (p.His205Arg)
NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr) rs1586190048
NM_018646.6(TRPV6):c.713C>G (p.Thr238Arg) rs1795077287
NM_018646.6(TRPV6):c.715_724del (p.Val239fs)
NM_018646.6(TRPV6):c.970G>A (p.Asp324Asn)
NM_020638.3(FGF23):c.*1548T>G rs762018989
NM_020638.3(FGF23):c.*278G>C rs886049408
NM_020638.3(FGF23):c.*28C>G rs886049411
NM_020638.3(FGF23):c.*460A>T rs775907152
NM_020638.3(FGF23):c.*664A>T rs886049400
NM_020638.3(FGF23):c.-111C>T rs1865158291
NM_020638.3(FGF23):c.-53C>G rs187035769
NM_020638.3(FGF23):c.-55C>A rs760895385
NM_020638.3(FGF23):c.124C>G (p.Leu42Val)
NM_020638.3(FGF23):c.162G>C (p.Gln54His) rs193922701
NM_020638.3(FGF23):c.211+12T>G rs1865152731
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr) rs1865075955
NM_020638.3(FGF23):c.315+15del rs771309899
NM_020638.3(FGF23):c.414G>C (p.Leu138=) rs1865054870
NM_020638.3(FGF23):c.515_529del (p.Pro172_Arg176del)
NM_020638.3(FGF23):c.535C>T (p.Arg179Trp) rs28937882
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702
NM_020638.3(FGF23):c.555G>A (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.60C>T (p.Ser20=) rs763114180
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp) rs1033823201
NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr) rs1848277685
NM_024514.5(CYP2R1):c.124_137delinsCG (p.Gly42_Leu46delinsArg) rs1848879955
NM_024514.5(CYP2R1):c.1348G>C (p.Gly450Arg) rs1565176051
NM_024514.5(CYP2R1):c.309C>T (p.Ser103=) rs111824082
NM_024514.5(CYP2R1):c.367+1G>A rs202011621
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_024529.5(CDC73):c.*1056A>C rs548106852
NM_024529.5(CDC73):c.*1075A>G rs886045719
NM_024529.5(CDC73):c.*1144del rs538761780
NM_024529.5(CDC73):c.*1144dup rs538761780
NM_024529.5(CDC73):c.*1296C>G rs1269411417
NM_024529.5(CDC73):c.*1303A>G rs886045723
NM_024529.5(CDC73):c.*1442C>T rs1678053550
NM_024529.5(CDC73):c.*1821G>T rs1678060916
NM_024529.5(CDC73):c.*1858C>G rs886045724
NM_024529.5(CDC73):c.*1956T>C rs886045725
NM_024529.5(CDC73):c.*2043A>T rs886045727
NM_024529.5(CDC73):c.*2131A>T rs886045728
NM_024529.5(CDC73):c.*244T>A rs1678034707
NM_024529.5(CDC73):c.*2639C>G rs1361287206
NM_024529.5(CDC73):c.*3086C>T rs886045733
NM_024529.5(CDC73):c.*3257A>G rs886045734
NM_024529.5(CDC73):c.*3409_*3410del rs886045735
NM_024529.5(CDC73):c.*3542A>G rs886045736
NM_024529.5(CDC73):c.*3641G>A rs565579791
NM_024529.5(CDC73):c.*3695C>G rs1678098304
NM_024529.5(CDC73):c.*3786T>A rs74130943
NM_024529.5(CDC73):c.*3786T>C rs74130943
NM_024529.5(CDC73):c.*3808TTG[1] rs143131672
NM_024529.5(CDC73):c.*3887G>T rs1678101144
NM_024529.5(CDC73):c.*937G>A rs886045715
NM_024529.5(CDC73):c.*94A>G rs547969893
NM_024529.5(CDC73):c.*956T>C rs886045716
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser) rs779180488
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile) rs2102038553
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala) rs1572215351
NM_024529.5(CDC73):c.127dup (p.Trp43fs)
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.131+1del
NM_024529.5(CDC73):c.132-17T>G rs2103113863
NM_024529.5(CDC73):c.132-2A>G rs1057519419
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser) rs1199579887
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.156A>G (p.Arg52=) rs886045712
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
NM_024529.5(CDC73):c.237+28T>C rs4466634
NM_024529.5(CDC73):c.238-1G>A rs587776559
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu) rs1675773790
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn) rs1572150421
NM_024529.5(CDC73):c.348A>G (p.Ile116Met)
NM_024529.5(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.5(CDC73):c.388G>A (p.Glu130Lys)
NM_024529.5(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr) rs369542555
NM_024529.5(CDC73):c.424-12G>A
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
NM_024529.5(CDC73):c.520_523del (p.Ser174fs)
NM_024529.5(CDC73):c.584del (p.Ser195fs)
NM_024529.5(CDC73):c.626_629del (p.Lys209fs) rs2103126261
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)
NM_024529.5(CDC73):c.687_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.710T>C (p.Ile237Thr)
NM_024529.5(CDC73):c.728A>T (p.Lys243Met) rs1675915771
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)
NM_024529.5(CDC73):c.762A>C (p.Gln254His)
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala) rs765029460
NM_024529.5(CDC73):c.818C>T (p.Ala273Val) rs2103130620
NM_024529.5(CDC73):c.829-5dup rs755393679
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714
NM_024529.5(CDC73):c.847A>G (p.Lys283Glu) rs1572160304
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024529.5(CDC73):c.908-6del rs563805986
NM_054027.6(ANKH):c.*1192G>C rs138050705
NM_054027.6(ANKH):c.*1354A>G rs886060080
NM_054027.6(ANKH):c.*1370C>G rs191464917
NM_054027.6(ANKH):c.*1372C>A rs1054095058
NM_054027.6(ANKH):c.*1423G>A rs572785716
NM_054027.6(ANKH):c.*1668A>C rs886060079
NM_054027.6(ANKH):c.*1753C>T rs1329037667
NM_054027.6(ANKH):c.*256G>A rs1265113554
NM_054027.6(ANKH):c.*2674C>A rs535920930
NM_054027.6(ANKH):c.*2674C>G rs535920930
NM_054027.6(ANKH):c.*3133C>A rs1007599533
NM_054027.6(ANKH):c.*3224T>C rs999138468
NM_054027.6(ANKH):c.*3359T>G rs1736999591
NM_054027.6(ANKH):c.*3509G>C rs1006427637
NM_054027.6(ANKH):c.*3664C>T rs886060073
NM_054027.6(ANKH):c.*4268C>A rs150706862
NM_054027.6(ANKH):c.*4610C>A rs1050130499
NM_054027.6(ANKH):c.*4704T>G rs886060071
NM_054027.6(ANKH):c.*4777C>A rs991205856
NM_054027.6(ANKH):c.*4811A>G rs1736946428
NM_054027.6(ANKH):c.*5593G>C rs886060070
NM_054027.6(ANKH):c.*5895C>G rs141264056
NM_054027.6(ANKH):c.*5898G>A rs886060069
NM_054027.6(ANKH):c.*5980C>A rs943017719
NM_054027.6(ANKH):c.*6368G>A rs1238103899
NM_054027.6(ANKH):c.*643T>C rs886060087
NM_054027.6(ANKH):c.*712G>C rs370243294
NM_054027.6(ANKH):c.*921A>G rs886060085
NM_054027.6(ANKH):c.-11C>T rs2126640512
NM_054027.6(ANKH):c.-87T>A rs886060204
NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del) rs121908405
NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg) rs28939080
NM_054027.6(ANKH):c.13C>A (p.Pro5Thr) rs121908410
NM_054027.6(ANKH):c.13C>T (p.Pro5Ser) rs121908410
NM_054027.6(ANKH):c.143T>C (p.Met48Thr) rs121908407
NM_054027.6(ANKH):c.14C>T (p.Pro5Leu) rs121908409
NM_054027.6(ANKH):c.585C>T (p.Leu195=) rs200216941
NM_054027.6(ANKH):c.830C>T (p.Ala277Val) rs1738522430
NM_054027.6(ANKH):c.897G>A (p.Val299=) rs748349350
NM_054027.6(ANKH):c.97-9C>T rs1739348689
PHEX, A-G, NT-429
Single allele

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