ClinVar Miner

List of variants reported as uncertain significance for bone remodeling disease

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3234
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HGVS dbSNP gnomAD frequency
NM_014028.4(OSTM1):c.*2362A>G rs201149316 0.22949
NM_000088.4(COL1A1):c.*1011T>C rs1061970 0.12435
NM_006208.3(ENPP1):c.*1240T>C rs758925757 0.10712
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_000376.3(VDR):c.*1865G>A rs11540149 0.01124
NM_000376.3(VDR):c.*1420T>C rs56382517 0.01021
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_000376.3(VDR):c.*222G>C rs11574117 0.00758
NM_000376.3(VDR):c.*748T>G rs11574124 0.00684
NM_000376.3(VDR):c.*1992C>T rs142851923 0.00673
NM_000376.3(VDR):c.-84+5034C>T rs113046660 0.00573
NM_000376.3(VDR):c.*184T>G rs11574116 0.00517
NM_002546.3(TNFRSF11B):c.-284C>T rs11575929 0.00457
NM_000376.3(VDR):c.*2023G>A rs11574135 0.00453
NM_000376.3(VDR):c.*1477C>T rs11574132 0.00409
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_006208.3(ENPP1):c.*96C>T rs147396850 0.00384
NM_002546.4(TNFRSF11B):c.*67C>T rs11573944 0.00356
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_003839.4(TNFRSF11A):c.*1368C>T rs12721434 0.00291
NM_003701.4(TNFSF11):c.-94C>T rs199818393 0.00278
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_002546.3(TNFRSF11B):c.-257G>T rs368831724 0.00255
NM_000376.3(VDR):c.*2127C>T rs973050505 0.00253
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_004407.4(DMP1):c.879T>C (p.Ser293=) rs150896376 0.00248
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) rs141436407 0.00230
NM_000088.4(COL1A1):c.-57G>A rs2734278 0.00229
NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) rs189501562 0.00228
NM_002546.4(TNFRSF11B):c.*682T>C rs189721016 0.00227
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) rs143956614 0.00222
NM_000088.4(COL1A1):c.*548C>A rs557681960 0.00220
NM_000376.3(VDR):c.933G>A (p.Glu311=) rs150775215 0.00217
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_001287.6(CLCN7):c.*241G>A rs559965660 0.00198
NM_004407.4(DMP1):c.159C>T (p.Gly53=) rs144471060 0.00197
NM_000376.3(VDR):c.909C>T (p.Ala303=) rs12721365 0.00195
NM_000376.3(VDR):c.*843C>T rs576342182 0.00188
NM_003701.4(TNFSF11):c.-144G>C rs201859220 0.00188
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) rs138399473 0.00183
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_000376.3(VDR):c.908-14A>G rs11574107 0.00170
NM_001287.6(CLCN7):c.1354-7C>T rs41286691 0.00170
NM_003900.5(SQSTM1):c.*1394C>T rs182968597 0.00169
NM_006208.3(ENPP1):c.*3920G>A rs111741864 0.00167
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
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_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) rs200250962 0.00151
NM_000088.4(COL1A1):c.*378C>G rs148131473 0.00150
NM_000376.3(VDR):c.*2446G>A rs146017596 0.00150
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_000376.3(VDR):c.*1666A>C rs11574134 0.00145
NM_001287.6(CLCN7):c.141+8C>G rs11861560 0.00136
NM_003701.4(TNFSF11):c.*788T>C rs200189539 0.00135
NM_003701.4(TNFSF11):c.-81C>A rs200647526 0.00129
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00129
NM_000127.3(EXT1):c.-678C>T rs886062644 0.00127
NM_004407.4(DMP1):c.*918T>G rs146337309 0.00118
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 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_000376.3(VDR):c.1073G>A (p.Arg358His) rs114678556 0.00106
NM_006208.3(ENPP1):c.*1499C>T rs541116091 0.00106
NM_000067.2(CA2):c.-138G>A rs557422827 0.00101
NM_000396.4(CTSK):c.399+9C>T rs188468815 0.00101
NM_003839.4(TNFRSF11A):c.*1060C>T rs572639953 0.00100
NM_000376.3(VDR):c.*2832C>T rs73109835 0.00097
NM_003900.5(SQSTM1):c.*710G>C rs149508576 0.00097
NM_001287.6(CLCN7):c.90C>T (p.Pro30=) rs550851648 0.00096
NM_025237.3(SOST):c.*902T>C rs531006039 0.00096
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_014028.4(OSTM1):c.*3060G>A rs563889052 0.00092
NM_003900.5(SQSTM1):c.*175T>G rs186996560 0.00091
NM_014028.4(OSTM1):c.*2371G>A rs865891537 0.00089
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_020638.3(FGF23):c.*1575T>C rs562433374 0.00088
NM_000785.4(CYP27B1):c.*143G>A rs569065283 0.00087
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_000127.3(EXT1):c.-655C>A rs886062642 0.00084
NM_000376.3(VDR):c.*1319C>T rs11574131 0.00083
NM_000396.4(CTSK):c.-1-9C>T rs200480574 0.00083
NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) rs117028614 0.00082
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=) rs144654126 0.00081
NM_003052.5(SLC34A1):c.*65G>A rs974632595 0.00081
NM_024514.5(CYP2R1):c.467C>G (p.Ser156Cys) rs140947977 0.00081
NM_006208.3(ENPP1):c.522C>T (p.Gly174=) rs144882196 0.00080
NM_003839.4(TNFRSF11A):c.*2564A>G rs555211772 0.00079
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000785.4(CYP27B1):c.-22C>G rs146281435 0.00077
NM_000067.3(CA2):c.*17G>A rs140653628 0.00074
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn) rs201402594 0.00073
NM_001287.6(CLCN7):c.*1026C>A rs761591980 0.00071
NM_001287.6(CLCN7):c.130G>A (p.Ala44Thr) rs528173586 0.00071
NM_006208.3(ENPP1):c.*3718C>T rs867805924 0.00071
NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu) rs886054082 0.00070
NM_004407.4(DMP1):c.312C>T (p.Asp104=) rs148543792 0.00070
NM_004407.4(DMP1):c.943G>C (p.Gly315Arg) rs149603030 0.00069
NM_006019.4(TCIRG1):c.1887+131G>A rs78820476 0.00069
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 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_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_006208.3(ENPP1):c.*1239T>C rs1251519009 0.00063
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) rs151335249 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_004407.4(DMP1):c.*373T>A rs183996325 0.00061
NM_006208.3(ENPP1):c.*2564A>G rs534823686 0.00061
NM_006208.3(ENPP1):c.313+10T>G rs202225018 0.00059
NM_014028.4(OSTM1):c.*2317A>C rs527256747 0.00059
NM_006019.4(TCIRG1):c.1487C>T (p.Thr496Met) rs141474168 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_004407.4(DMP1):c.1023C>T (p.Ser341=) rs140807822 0.00056
NM_054027.6(ANKH):c.*6012T>C rs576051028 0.00056
NM_003839.4(TNFRSF11A):c.*1231A>G rs562667048 0.00055
NM_003839.4(TNFRSF11A):c.*447C>T rs571832589 0.00055
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) rs148737409 0.00054
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_002546.4(TNFRSF11B):c.*609G>A rs529941362 0.00052
NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) rs201652399 0.00052
NM_054027.6(ANKH):c.*1646A>G rs564365629 0.00052
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala) rs201109695 0.00051
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_000127.3(EXT1):c.-731G>A rs886062645 0.00048
NM_000376.3(VDR):c.*2973G>A rs760268626 0.00048
NM_006019.4(TCIRG1):c.*67C>T rs570860062 0.00048
NM_002546.4(TNFRSF11B):c.700G>A (p.Ala234Thr) rs201393730 0.00047
NM_004252.5(NHERF1):c.657C>G (p.Ile219Met) rs147104235 0.00047
NM_014028.4(OSTM1):c.*168T>G rs571193624 0.00047
NM_000376.3(VDR):c.*2227G>A rs138753910 0.00046
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=) rs11548640 0.00046
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_000088.4(COL1A1):c.*981G>C rs574167621 0.00045
NM_000376.3(VDR):c.-84+5000T>C rs752094022 0.00045
NM_001287.6(CLCN7):c.1701C>T (p.Thr567=) rs143025396 0.00045
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) rs148865136 0.00045
NM_000088.4(COL1A1):c.3424-6C>A rs370865189 0.00044
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 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_002334.4(LRP4):c.3407G>A (p.Arg1136Gln) rs61736853 0.00042
NM_003052.5(SLC34A1):c.*331A>G rs773037239 0.00042
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp) rs199747378 0.00041
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn) rs139535571 0.00041
NM_003052.5(SLC34A1):c.-68G>A rs774774202 0.00041
NM_014028.4(OSTM1):c.933A>G (p.Lys311=) rs146289365 0.00041
NM_016175.4(MRNIP):c.993C>T (p.Asp331=) rs148611524 0.00041
NM_054027.6(ANKH):c.*1626G>A rs760609731 0.00041
NM_000088.4(COL1A1):c.-66G>A rs565562045 0.00039
NM_025237.3(SOST):c.153G>A (p.Glu51=) rs150640883 0.00039
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000376.3(VDR):c.52C>T (p.Arg18Trp) rs147496897 0.00038
NM_000785.4(CYP27B1):c.*635G>A rs533718329 0.00038
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp) rs141213903 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_000127.3(EXT1):c.-358T>C rs886062639 0.00037
NM_003839.4(TNFRSF11A):c.*633C>A rs184568614 0.00037
NM_000088.4(COL1A1):c.*1087C>T rs557843360 0.00036
NM_001287.6(CLCN7):c.*1180G>C rs370167870 0.00036
NM_002334.4(LRP4):c.1832G>A (p.Arg611His) rs140282454 0.00036
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_014798.3(PLEKHM1):c.1348C>A (p.Pro450Thr) rs144621291 0.00036
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) rs78534353 0.00036
NM_054027.6(ANKH):c.*3554C>T rs185233583 0.00036
NM_054027.6(ANKH):c.*4958T>C rs187771198 0.00036
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000376.3(VDR):c.1016T>C (p.Val339Ala) rs187843998 0.00035
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys) rs148619884 0.00035
NM_006019.4(TCIRG1):c.2162T>A (p.Ile721Asn) rs150260808 0.00035
NM_001287.6(CLCN7):c.*1248G>A rs371394735 0.00034
NM_001287.6(CLCN7):c.2154C>T (p.Phe718=) rs145775350 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_031471.6(FERMT3):c.56G>A (p.Arg19Gln) rs150500299 0.00034
NM_207122.2(EXT2):c.*1153A>T rs185285766 0.00034
NM_000088.4(COL1A1):c.*631G>A rs569577942 0.00033
NM_000444.6(PHEX):c.*227C>G rs765787001 0.00033
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) rs201629800 0.00033
NM_001287.6(CLCN7):c.*1297T>C rs556488187 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=) rs138204772 0.00032
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000127.3(EXT1):c.*151T>C rs751063786 0.00031
NM_000785.4(CYP27B1):c.*446G>A rs763711308 0.00031
NM_001287.6(CLCN7):c.2331+12C>T rs371977822 0.00031
NM_003900.5(SQSTM1):c.-18G>A rs370874635 0.00031
NM_014028.4(OSTM1):c.*2145A>T rs147517615 0.00031
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_004407.4(DMP1):c.*159T>A rs865870083 0.00030
NM_000067.3(CA2):c.462G>A (p.Pro154=) rs140623407 0.00029
NM_000127.3(EXT1):c.-113G>C rs533303304 0.00029
NM_003052.5(SLC34A1):c.*239C>A rs768911630 0.00029
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_006019.4(TCIRG1):c.1673+13G>A rs372404641 0.00029
NM_006019.4(TCIRG1):c.2046T>C (p.Pro682=) rs373493580 0.00029
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_014028.4(OSTM1):c.*1205C>G rs145514255 0.00029
NM_014028.4(OSTM1):c.*147G>T rs117394334 0.00029
NM_054027.6(ANKH):c.*405G>A rs557668196 0.00029
NM_000088.4(COL1A1):c.*836C>T rs527358320 0.00028
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_000067.3(CA2):c.*624T>C rs533282871 0.00027
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_006019.4(TCIRG1):c.123C>T (p.Asn41=) rs147102889 0.00027
NM_004407.4(DMP1):c.1502T>C (p.Ile501Thr) rs146762807 0.00026
NM_006019.4(TCIRG1):c.1165+12G>A rs199554924 0.00026
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129 0.00026
NM_001287.6(CLCN7):c.*1368G>A rs376131222 0.00025
NM_001287.6(CLCN7):c.212C>T (p.Pro71Leu) rs145267254 0.00025
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) rs201585639 0.00025
NM_006019.4(TCIRG1):c.1464-10G>A rs370060039 0.00025
NM_031471.6(FERMT3):c.938C>T (p.Pro313Leu) rs141200776 0.00025
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_000376.3(VDR):c.146+9dup rs748166237 0.00024
NM_001177316.2(SLC34A3):c.781A>G (p.Ser261Gly) rs201964796 0.00024
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) rs139006210 0.00024
NM_003701.4(TNFSF11):c.534T>C (p.Gly178=) rs146484645 0.00024
NM_003839.4(TNFRSF11A):c.*125T>C rs528975442 0.00024
NM_003839.4(TNFRSF11A):c.*126C>T rs548628692 0.00024
NM_014028.4(OSTM1):c.*3186T>C rs562003144 0.00024
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000785.4(CYP27B1):c.386+10C>T rs376212738 0.00023
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) rs150648140 0.00023
NM_001287.6(CLCN7):c.1098+11C>G rs202234120 0.00023
NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=) rs145242277 0.00023
NM_006019.4(TCIRG1):c.-53G>A rs554788440 0.00023
NM_001287.6(CLCN7):c.411G>A (p.Thr137=) rs139649449 0.00022
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=) rs4876870 0.00022
NM_003701.4(TNFSF11):c.*333_*343del rs886050255 0.00022
NM_006019.4(TCIRG1):c.1709C>T (p.Thr570Met) rs61730880 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_014028.4(OSTM1):c.*2799A>G rs747305519 0.00022
NM_020638.3(FGF23):c.*784C>T rs553998728 0.00022
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
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_002334.4(LRP4):c.1769G>A (p.Arg590His) rs149435615 0.00021
NM_002546.4(TNFRSF11B):c.840C>T (p.Ser280=) rs143414212 0.00021
NM_003839.4(TNFRSF11A):c.*705G>A rs886054096 0.00021
NM_006019.4(TCIRG1):c.1097G>A (p.Arg366His) rs369983011 0.00021
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_014028.4(OSTM1):c.*1085T>G rs543280303 0.00021
NM_054027.6(ANKH):c.*3172A>G rs933543701 0.00021
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) rs373582542 0.00021
NM_000785.4(CYP27B1):c.*345T>C rs141820034 0.00020
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) rs140514551 0.00020
NM_001287.6(CLCN7):c.*388C>T rs745852264 0.00020
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) rs145422541 0.00020
NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln) rs201661352 0.00020
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000376.3(VDR):c.*877C>G rs556844112 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_001287.6(CLCN7):c.558C>T (p.Phe186=) rs147280414 0.00019
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) rs201957426 0.00019
NM_002335.4(LRP5):c.4247C>T (p.Ala1416Val) rs376164225 0.00019
NM_003839.4(TNFRSF11A):c.*440C>T rs952341053 0.00019
NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser) rs762733251 0.00019
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=) rs199931327 0.00019
NM_004407.4(DMP1):c.*527G>A rs554759690 0.00019
NM_004407.4(DMP1):c.55-3T>G rs181490843 0.00019
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00019
NM_006019.4(TCIRG1):c.1743C>T (p.Phe581=) rs148391697 0.00019
NM_054027.6(ANKH):c.*6235G>A rs546234916 0.00019
NM_207122.2(EXT2):c.*945G>A rs886048282 0.00019
NM_000376.3(VDR):c.*967C>A rs775657996 0.00018
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) rs201253200 0.00018
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly) rs545080321 0.00018
NM_014028.4(OSTM1):c.*1166A>G rs557667717 0.00018
NM_025237.3(SOST):c.*203G>A rs753407763 0.00018
NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg) rs758346041 0.00018
NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr) rs200176196 0.00018
NM_000088.4(COL1A1):c.*120T>C rs773014749 0.00017
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile) rs184583316 0.00017
NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp) rs140319849 0.00017
NM_001177316.2(SLC34A3):c.688A>C (p.Thr230Pro) rs200507464 0.00017
NM_001287.6(CLCN7):c.*543C>T rs542386664 0.00017
NM_001287.6(CLCN7):c.*996C>T rs1018535341 0.00017
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys) rs61749460 0.00017
NM_003052.5(SLC34A1):c.*241C>T rs774564955 0.00017
NM_004407.4(DMP1):c.996C>G (p.Asn332Lys) rs200882371 0.00017
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_006208.3(ENPP1):c.*1105T>C rs534792138 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_000088.4(COL1A1):c.*202A>G rs564917505 0.00016
NM_000088.4(COL1A1):c.*795C>T rs886053147 0.00016
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1615-14C>T rs190098788 0.00016
NM_000376.3(VDR):c.*487C>T rs187706787 0.00016
NM_000396.4(CTSK):c.812G>A (p.Ser271Asn) rs183135762 0.00016
NM_001287.6(CLCN7):c.*130G>A rs561217125 0.00016
NM_002334.4(LRP4):c.695G>A (p.Arg232His) rs370407081 0.00016
NM_003052.5(SLC34A1):c.*301T>C rs769685421 0.00016
NM_004407.4(DMP1):c.313G>A (p.Asp105Asn) rs142880465 0.00016
NM_006019.4(TCIRG1):c.2414+7G>A rs200879286 0.00016
NM_006019.4(TCIRG1):c.82C>T (p.Arg28Trp) rs139397145 0.00016
NM_006208.3(ENPP1):c.*637A>C rs552323303 0.00016
NM_014028.4(OSTM1):c.*2035A>G rs548119179 0.00016
NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys) rs373315115 0.00016
NM_207122.2(EXT2):c.*838T>G rs991198189 0.00016
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) rs201446793 0.00015
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) rs147798092 0.00015
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys) rs370319355 0.00015
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met) rs372826788 0.00015
NM_031471.6(FERMT3):c.635G>A (p.Arg212His) rs200467635 0.00015
NM_000127.3(EXT1):c.1749G>C (p.Gln583His) rs575895733 0.00014
NM_000376.3(VDR):c.889G>A (p.Val297Ile) rs144756403 0.00014
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) rs746847960 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_001287.6(CLCN7):c.*1189G>A rs886051691 0.00014
NM_001287.6(CLCN7):c.*1667C>T rs780617974 0.00014
NM_001287.6(CLCN7):c.2110C>T (p.Arg704Trp) rs375281048 0.00014
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile) rs143885233 0.00014
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu) rs147609642 0.00014
NM_002334.4(LRP4):c.605G>A (p.Arg202His) rs149056824 0.00014
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) rs201320326 0.00014
NM_002335.4(LRP5):c.295G>A (p.Val99Met) rs768918663 0.00014
NM_002546.4(TNFRSF11B):c.104C>A (p.Thr35Asn) rs150777320 0.00014
NM_003900.5(SQSTM1):c.*1336C>T rs199862884 0.00014
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg) rs376802604 0.00014
NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) rs370153862 0.00014
NM_006019.4(TCIRG1):c.118-6C>T rs375317575 0.00014
NM_020638.3(FGF23):c.*1492T>C rs986708682 0.00014
NM_024514.5(CYP2R1):c.851T>C (p.Met284Thr) rs200183599 0.00014
NM_025237.3(SOST):c.*314C>G rs765892196 0.00014
NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser) rs150164798 0.00014
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val) rs199564714 0.00014
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
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_001287.6(CLCN7):c.*9C>T rs773825294 0.00013
NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met) rs140852936 0.00013
NM_003052.5(SLC34A1):c.*323G>A rs886060469 0.00013
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_003701.4(TNFSF11):c.*159G>A rs186999111 0.00013
NM_003900.5(SQSTM1):c.-17C>T rs761120269 0.00013
NM_004407.4(DMP1):c.*61C>T rs886059688 0.00013
NM_014028.4(OSTM1):c.*2277G>A rs778098156 0.00013
NM_014028.4(OSTM1):c.*432T>G rs369418567 0.00013
NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn) rs201257852 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_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00012
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_001287.6(CLCN7):c.*1421G>C rs886051689 0.00012
NM_001287.6(CLCN7):c.*228C>T rs143364973 0.00012
NM_001287.6(CLCN7):c.1272G>A (p.Thr424=) rs145286036 0.00012
NM_001287.6(CLCN7):c.2214C>T (p.Ser738=) rs531105528 0.00012
NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) rs201916993 0.00012
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=) rs561557630 0.00012
NM_003839.4(TNFRSF11A):c.*1908T>G rs993985244 0.00012
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) rs201239306 0.00012
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) rs370970067 0.00012
NM_006019.3(TCIRG1):c.-128G>C rs536563994 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_014028.4(OSTM1):c.*2195T>G rs924418376 0.00012
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00012
NM_054027.6(ANKH):c.*3548G>A rs539426552 0.00012
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000376.3(VDR):c.*2545G>T rs765177595 0.00011
NM_000396.4(CTSK):c.*342C>T rs201937004 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_001287.6(CLCN7):c.*1403A>C rs886051690 0.00011
NM_001287.6(CLCN7):c.2415G>A (p.Thr805=) rs202080270 0.00011
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln) rs143444937 0.00011
NM_002334.4(LRP4):c.472G>A (p.Gly158Arg) rs193247849 0.00011
NM_002334.4(LRP4):c.788G>A (p.Arg263His) rs149906323 0.00011
NM_002335.4(LRP5):c.164C>T (p.Ser55Phe) rs148462220 0.00011
NM_002335.4(LRP5):c.3586G>A (p.Ala1196Thr) rs199887400 0.00011
NM_003701.4(TNFSF11):c.*357C>T rs192340175 0.00011
NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val) rs757543096 0.00011
NM_003900.5(SQSTM1):c.*1353C>T rs1436678583 0.00011
NM_003900.5(SQSTM1):c.*82C>T rs11548622 0.00011
NM_006019.4(TCIRG1):c.1464-5C>T rs372813575 0.00011
NM_006019.4(TCIRG1):c.21C>T (p.Ser7=) rs373244328 0.00011
NM_006019.4(TCIRG1):c.387C>T (p.Ala129=) rs763756780 0.00011
NM_031471.6(FERMT3):c.269G>A (p.Arg90His) rs552829558 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_207122.2(EXT2):c.*440A>G rs529075674 0.00011
NM_000088.4(COL1A1):c.*1384_*1387del rs886053139 0.00010
NM_000088.4(COL1A1):c.*502C>T rs1004356084 0.00010
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_001287.6(CLCN7):c.*510G>C rs527600278 0.00010
NM_001287.6(CLCN7):c.2073+4C>T rs768190489 0.00010
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys) rs146660159 0.00010
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) rs146372809 0.00010
NM_002335.4(LRP5):c.1744A>G (p.Ile582Val) rs1056743758 0.00010
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser) rs752506754 0.00010
NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=) rs147119709 0.00010
NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val) rs144775787 0.00010
NM_006208.3(ENPP1):c.*2966C>G rs1224210803 0.00010
NM_031471.6(FERMT3):c.558G>A (p.Ser186=) rs747094642 0.00010
NM_031471.6(FERMT3):c.5C>T (p.Ala2Val) rs551546723 0.00010
NM_054027.6(ANKH):c.*2236G>A rs201439698 0.00010
NM_207122.2(EXT2):c.*731A>G rs886048281 0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_000067.3(CA2):c.541C>T (p.Arg181Cys) rs377003627 0.00009
NM_000067.3(CA2):c.677G>A (p.Arg226His) rs201928238 0.00009
NM_000088.4(COL1A1):c.*342C>A rs1253268385 0.00009
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000127.3(EXT1):c.-536G>A rs780662536 0.00009
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn) rs199862937 0.00009
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
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_000396.4(CTSK):c.22C>T (p.Leu8=) rs138360770 0.00009
NM_000396.4(CTSK):c.244-10_244-8del rs774922287 0.00009
NM_000444.6(PHEX):c.444T>C (p.Ile148=) rs145881500 0.00009
NM_001177316.2(SLC34A3):c.1606C>T (p.Arg536Trp) rs142206230 0.00009
NM_001287.6(CLCN7):c.521T>C (p.Phe174Ser) rs752298744 0.00009
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp) rs200623154 0.00009
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile) rs370091369 0.00009
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg) rs141565454 0.00009
NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln) rs146864522 0.00009
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) rs377204138 0.00009
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys) rs200465829 0.00009
NM_002335.4(LRP5):c.3028C>T (p.Pro1010Ser) rs201793593 0.00009
NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr) rs113007633 0.00009
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu) rs80291963 0.00009
NM_002546.4(TNFRSF11B):c.332G>A (p.Arg111His) rs200629343 0.00009
NM_002546.4(TNFRSF11B):c.853A>G (p.Ile285Val) rs373848556 0.00009
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val) rs141770901 0.00009
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn) rs201923000 0.00009
NM_004407.4(DMP1):c.517C>T (p.Arg173Trp) rs200549155 0.00009
NM_006019.4(TCIRG1):c.1042G>A (p.Val348Met) rs146023337 0.00009
NM_006019.4(TCIRG1):c.1898A>G (p.Gln633Arg) rs765175241 0.00009
NM_006019.4(TCIRG1):c.1978C>T (p.Arg660Cys) rs528045019 0.00009
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006019.4(TCIRG1):c.574G>A (p.Gly192Ser) rs371658110 0.00009
NM_006019.4(TCIRG1):c.904G>A (p.Val302Met) rs540235063 0.00009
NM_006019.4(TCIRG1):c.97G>A (p.Gly33Ser) rs775576535 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_014028.4(OSTM1):c.*751C>T rs925420631 0.00009
NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) rs1430138108 0.00009
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) rs144256756 0.00009
NM_054027.6(ANKH):c.*1754G>A rs971385670 0.00009
NM_054027.6(ANKH):c.*5930C>T rs747178382 0.00009
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys) rs376292686 0.00009
NM_000067.3(CA2):c.*173T>C rs1041356270 0.00008
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000376.3(VDR):c.*773T>G rs550578263 0.00008
NM_001287.6(CLCN7):c.*1607G>T rs941409246 0.00008
NM_001287.6(CLCN7):c.120T>A (p.Ala40=) rs886051703 0.00008
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile) rs142660660 0.00008
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser) rs371961330 0.00008
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met) rs774275092 0.00008
NM_002335.4(LRP5):c.1132A>G (p.Ile378Val) rs369747444 0.00008
NM_002335.4(LRP5):c.4016A>G (p.Asn1339Ser) rs142001526 0.00008
NM_002546.3(TNFRSF11B):c.-311G>T rs779000439 0.00008
NM_002546.4(TNFRSF11B):c.621C>T (p.Phe207=) rs376708982 0.00008
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp) rs146096892 0.00008
NM_003701.4(TNFSF11):c.*158C>T rs200754328 0.00008
NM_003839.4(TNFRSF11A):c.731-11G>A rs372772575 0.00008
NM_003900.5(SQSTM1):c.*387A>G rs188873621 0.00008
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu) rs371719657 0.00008
NM_004407.4(DMP1):c.674G>A (p.Ser225Asn) rs373051924 0.00008
NM_006019.4(TCIRG1):c.1305+7G>C rs368136779 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_006019.4(TCIRG1):c.851G>A (p.Arg284Gln) rs146244480 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_014028.4(OSTM1):c.*2517del rs886060961 0.00008
NM_014028.4(OSTM1):c.*953C>T rs886060968 0.00008
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr) rs146086025 0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.744-6T>A rs755926713 0.00008
NM_000067.3(CA2):c.709G>A (p.Glu237Lys) rs143666045 0.00007
NM_000088.4(COL1A1):c.*714C>T rs567392981 0.00007
NM_000127.3(EXT1):c.-667C>G rs886062643 0.00007
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile) rs920291906 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_001287.6(CLCN7):c.812G>A (p.Arg271Gln) rs541169535 0.00007
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp) rs140528156 0.00007
NM_002334.4(LRP4):c.3277+5G>T rs374900441 0.00007
NM_002334.4(LRP4):c.4075T>A (p.Ser1359Thr) rs775159238 0.00007
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln) rs138238230 0.00007
NM_002335.4(LRP5):c.1283G>A (p.Arg428Gln) rs770223547 0.00007
NM_002335.4(LRP5):c.1328C>T (p.Thr443Met) rs200416179 0.00007
NM_002335.4(LRP5):c.3655C>T (p.Arg1219Cys) rs139847357 0.00007
NM_002546.4(TNFRSF11B):c.277G>A (p.Val93Ile) rs369646136 0.00007
NM_003839.3(TNFRSF11A):c.-49G>A rs886054081 0.00007
NM_003839.4(TNFRSF11A):c.*322C>A rs372420868 0.00007
NM_003900.5(SQSTM1):c.*1141G>A rs143664576 0.00007
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His) rs149424705 0.00007
NM_004407.4(DMP1):c.*77T>C rs963086141 0.00007
NM_006019.4(TCIRG1):c.1010G>A (p.Arg337Gln) rs139263189 0.00007
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006019.4(TCIRG1):c.1382A>G (p.Tyr461Cys) rs771395837 0.00007
NM_006019.4(TCIRG1):c.941C>T (p.Thr314Met) rs367818260 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_031471.6(FERMT3):c.1516C>A (p.Arg506Ser) rs184091587 0.00007
NM_031471.6(FERMT3):c.644G>A (p.Arg215Gln) rs542357552 0.00007
NM_054027.6(ANKH):c.*793A>G rs377136068 0.00007
NM_207122.2(EXT2):c.-45G>T rs1276665372 0.00007
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_000088.4(COL1A1):c.*21G>C rs201085309 0.00006
NM_000088.4(COL1A1):c.1155+12C>T rs774034198 0.00006
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) rs763409550 0.00006
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His) rs201168934 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg) rs200278401 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln) rs745890180 0.00006
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe) rs772883826 0.00006
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser) rs750116273 0.00006
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_000396.3(CTSK):c.-72T>C rs187955801 0.00006
NM_000444.6(PHEX):c.118+7G>T rs534550003 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_001287.6(CLCN7):c.1098+15C>T rs760916017 0.00006
NM_001287.6(CLCN7):c.1884-10C>A rs753459440 0.00006
NM_001287.6(CLCN7):c.1884-6C>T rs570339629 0.00006
NM_001287.6(CLCN7):c.2402C>T (p.Ser801Leu) rs184833329 0.00006
NM_001287.6(CLCN7):c.286-10C>T rs376717256 0.00006
NM_001287.6(CLCN7):c.351+14C>T rs886051701 0.00006
NM_001287.6(CLCN7):c.595-3C>T rs372809649 0.00006
NM_002334.4(LRP4):c.1055G>A (p.Arg352Gln) rs773234882 0.00006
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys) rs148856658 0.00006
NM_002334.4(LRP4):c.5309G>A (p.Arg1770Gln) rs150211735 0.00006
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln) rs770309253 0.00006
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile) rs761403316 0.00006
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys) rs557300271 0.00006
NM_002335.4(LRP5):c.1636C>T (p.Pro546Ser) rs774097621 0.00006
NM_002335.4(LRP5):c.1642A>G (p.Ile548Val) rs201576246 0.00006
NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys) rs759674127 0.00006
NM_002335.4(LRP5):c.3220G>A (p.Val1074Ile) rs376914943 0.00006
NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys) rs377258285 0.00006
NM_002335.4(LRP5):c.4566G>A (p.Pro1522=) rs368178411 0.00006
NM_002335.4(LRP5):c.4610C>T (p.Ala1537Val) rs753256748 0.00006
NM_002335.4(LRP5):c.4754C>T (p.Ser1585Leu) rs377323023 0.00006
NM_002546.4(TNFRSF11B):c.729A>T (p.Gln243His) rs374594601 0.00006
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00006
NM_003052.5(SLC34A1):c.56G>A (p.Arg19His) rs765766600 0.00006
NM_003701.4(TNFSF11):c.*754A>C rs924942406 0.00006
NM_003839.4(TNFRSF11A):c.*214G>A rs886054085 0.00006
NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp) rs199863919 0.00006
NM_003839.4(TNFRSF11A):c.555T>C (p.His185=) rs149842577 0.00006
NM_003900.5(SQSTM1):c.*260C>T rs529602681 0.00006
NM_003900.5(SQSTM1):c.*288C>T rs886060506 0.00006
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) rs199854262 0.00006
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser) rs769325755 0.00006
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His) rs902195752 0.00006
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys) rs1478180381 0.00006
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile) rs376283809 0.00006
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) rs752889531 0.00006
NM_004407.4(DMP1):c.*695T>A rs886059690 0.00006
NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=) rs144158792 0.00006
NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser) rs369222109 0.00006
NM_006019.4(TCIRG1):c.1981C>T (p.Arg661Cys) rs770889100 0.00006
NM_006019.4(TCIRG1):c.2028C>T (p.Ala676=) rs370181947 0.00006
NM_006019.4(TCIRG1):c.2119-4G>A rs554600980 0.00006
NM_006208.3(ENPP1):c.*4586G>A rs886061083 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_016175.4(MRNIP):c.843C>T (p.Ala281=) rs199727564 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_025237.3(SOST):c.*1529T>C rs182899606 0.00006
NM_031471.6(FERMT3):c.298G>A (p.Val100Ile) rs145048660 0.00006
NM_031471.6(FERMT3):c.307C>T (p.Arg103Trp) rs572874105 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.*3562G>T rs917646845 0.00006
NM_054027.6(ANKH):c.*5899A>G rs976896150 0.00006
NM_207122.2(EXT2):c.*381T>C rs886048280 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln) rs141256266 0.00006
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg) rs367897723 0.00006
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn) rs200631641 0.00006
NM_000067.3(CA2):c.649G>A (p.Val217Ile) rs539558180 0.00005
NM_000088.4(COL1A1):c.*1151C>T rs536196631 0.00005
NM_000088.4(COL1A1):c.*1205C>G rs551536386 0.00005
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000127.3(EXT1):c.-57G>C rs886062636 0.00005
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.199C>T (p.Arg67Cys) rs369248365 0.00005
NM_000396.4(CTSK):c.*467A>G rs201446377 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_002334.4(LRP4):c.1285G>A (p.Asp429Asn) rs770279192 0.00005
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) rs762837686 0.00005
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu) rs146362081 0.00005
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter) rs147138337 0.00005
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) rs372637156 0.00005
NM_002335.4(LRP5):c.2393C>T (p.Thr798Met) rs371155552 0.00005
NM_002335.4(LRP5):c.2827+5G>A rs373365240 0.00005
NM_002335.4(LRP5):c.4517C>T (p.Thr1506Met) rs371173423 0.00005
NM_002335.4(LRP5):c.4616C>T (p.Pro1539Leu) rs148725079 0.00005
NM_002335.4(LRP5):c.680C>T (p.Ser227Leu) rs200384949 0.00005
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr) rs199847351 0.00005
NM_003701.4(TNFSF11):c.*667A>G rs12584726 0.00005
NM_003701.4(TNFSF11):c.520G>A (p.Asp174Asn) rs746313384 0.00005
NM_003701.4(TNFSF11):c.845A>C (p.Lys282Thr) rs201151635 0.00005
NM_003839.4(TNFRSF11A):c.*223G>A rs886054086 0.00005
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu) rs151191977 0.00005
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln) rs1258386028 0.00005
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) rs148294622 0.00005
NM_006019.4(TCIRG1):c.1437C>T (p.Ala479=) rs201800548 0.00005
NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met) rs779910642 0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_006019.4(TCIRG1):c.763G>A (p.Gly255Arg) rs376201635 0.00005
NM_006019.4(TCIRG1):c.903C>T (p.Ala301=) rs773632286 0.00005
NM_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_014028.4(OSTM1):c.*1634A>G rs886060964 0.00005
NM_014028.4(OSTM1):c.-67G>T rs532210400 0.00005
NM_020638.3(FGF23):c.*181T>C rs886049409 0.00005
NM_031471.6(FERMT3):c.1030-3T>C rs772852769 0.00005
NM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn) rs374091426 0.00005
NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr) rs765368032 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.*999T>C rs957305303 0.00005
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu) rs776907891 0.00005
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu) rs772530256 0.00005
NM_207122.2(EXT2):c.284G>A (p.Arg95His) rs143703574 0.00005
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp) rs757297287 0.00005
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) rs146316660 0.00005
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
NM_000088.4(COL1A1):c.*285C>A rs990020766 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.3630C>T (p.His1210=) rs745320719 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_000183.3(HADHB):c.110-2324G>C rs764471823 0.00004
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.259A>G (p.Ile87Val) rs387907555 0.00004
NM_000396.4(CTSK):c.814G>A (p.Asp272Asn) rs201772791 0.00004
NM_000396.4(CTSK):c.816T>A (p.Asp272Glu) rs190892496 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.328A>G (p.Lys110Glu) rs570711066 0.00004
NM_001177316.2(SLC34A3):c.605C>T (p.Thr202Ile) rs868077426 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_001287.6(CLCN7):c.*1573G>A rs890063151 0.00004
NM_001287.6(CLCN7):c.*216C>T rs528735755 0.00004
NM_001287.6(CLCN7):c.1038C>T (p.His346=) rs200937692 0.00004
NM_001287.6(CLCN7):c.1226G>A (p.Arg409Gln) rs780959736 0.00004
NM_001287.6(CLCN7):c.1307G>A (p.Arg436Gln) rs553904081 0.00004
NM_001287.6(CLCN7):c.1986C>T (p.Pro662=) rs374264233 0.00004
NM_001287.6(CLCN7):c.564C>T (p.Leu188=) rs781074115 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr) rs923808258 0.00004
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp) rs148456240 0.00004
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser) rs765602909 0.00004
NM_002334.4(LRP4):c.1309+6G>T rs532952316 0.00004
NM_002334.4(LRP4):c.1481G>A (p.Arg494His) rs777801967 0.00004
NM_002334.4(LRP4):c.2080C>T (p.Arg694Cys) rs1323412236 0.00004
NM_002334.4(LRP4):c.2610C>T (p.Gly870=) rs751431064 0.00004
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu) rs376848284 0.00004
NM_002334.4(LRP4):c.2837C>G (p.Pro946Arg) rs368880157 0.00004
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val) rs748636802 0.00004
NM_002334.4(LRP4):c.3367C>A (p.Leu1123Ile) rs763514608 0.00004
NM_002334.4(LRP4):c.3388G>A (p.Ala1130Thr) rs142904009 0.00004
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) rs369916883 0.00004
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu) rs767372563 0.00004
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val) rs1035754612 0.00004
NM_002334.4(LRP4):c.5374T>C (p.Tyr1792His) rs146542222 0.00004
NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met) rs375391856 0.00004
NM_002334.4(LRP4):c.761C>T (p.Ala254Val) rs767281769 0.00004
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met) rs199686378 0.00004
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_002335.4(LRP5):c.2015C>T (p.Thr672Met) rs575865236 0.00004
NM_002335.4(LRP5):c.2414G>A (p.Arg805Gln) rs565245995 0.00004
NM_002335.4(LRP5):c.249C>T (p.Ser83=) rs375802434 0.00004
NM_002335.4(LRP5):c.2515G>A (p.Val839Ile) rs974320602 0.00004
NM_002335.4(LRP5):c.2518G>A (p.Val840Met) rs757262154 0.00004
NM_002335.4(LRP5):c.284C>T (p.Thr95Met) rs777743208 0.00004
NM_002335.4(LRP5):c.3196C>T (p.Arg1066Cys) rs201285828 0.00004
NM_002335.4(LRP5):c.3310G>A (p.Glu1104Lys) rs767690779 0.00004
NM_002335.4(LRP5):c.3917C>T (p.Ala1306Val) rs772148405 0.00004
NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu) rs369637767 0.00004
NM_002335.4(LRP5):c.4226G>A (p.Arg1409His) rs765378705 0.00004
NM_002335.4(LRP5):c.4319C>T (p.Pro1440Leu) rs528693139 0.00004
NM_002335.4(LRP5):c.4445C>T (p.Ser1482Leu) rs778004788 0.00004
NM_002546.4(TNFRSF11B):c.*213C>T rs569762226 0.00004
NM_002546.4(TNFRSF11B):c.*349T>A rs888097904 0.00004
NM_002546.4(TNFRSF11B):c.-10G>A rs752426445 0.00004
NM_002546.4(TNFRSF11B):c.308G>A (p.Arg103His) rs375274060 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_003839.4(TNFRSF11A):c.*1185C>T rs529021055 0.00004
NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met) rs376096275 0.00004
NM_003900.5(SQSTM1):c.*243C>G rs886060504 0.00004
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln) rs200551825 0.00004
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu) rs745356508 0.00004
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile) rs539682696 0.00004
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val) rs141502868 0.00004
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His) rs761822261 0.00004
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=) rs140341924 0.00004
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala) rs142719499 0.00004
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met) rs150926394 0.00004
NM_004252.5(NHERF1):c.469A>C (p.Met157Leu) rs967768641 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_006019.4(TCIRG1):c.-4-3C>T rs200201422 0.00004
NM_006019.4(TCIRG1):c.1009C>T (p.Arg337Trp) rs766765320 0.00004
NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile) rs763319140 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006019.4(TCIRG1):c.2119-9G>A rs761413420 0.00004
NM_006019.4(TCIRG1):c.2121C>T (p.Leu707=) rs370572421 0.00004
NM_006019.4(TCIRG1):c.2244C>T (p.Ser748=) rs759227930 0.00004
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met) rs377377656 0.00004
NM_006019.4(TCIRG1):c.726C>T (p.His242=) rs1054033489 0.00004
NM_006019.4(TCIRG1):c.964G>A (p.Ala322Thr) rs202161177 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.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_014028.4(OSTM1):c.*3256A>G rs528019563 0.00004
NM_014028.4(OSTM1):c.*835G>T rs528945967 0.00004
NM_014028.4(OSTM1):c.67C>T (p.Leu23=) rs886060973 0.00004
NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu) rs752132846 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_020832.3(ZNF687):c.1695C>G (p.His565Gln) rs777840812 0.00004
NM_024514.5(CYP2R1):c.421G>A (p.Val141Ile) rs782437679 0.00004
NM_025237.3(SOST):c.114C>T (p.Pro38=) rs750870565 0.00004
NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser) rs373722020 0.00004
NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala) rs142686129 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.313+12G>A rs769050375 0.00004
NM_207122.1(EXT2):c.-307G>T rs569630494 0.00004
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys) rs781283626 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg) rs200032672 0.00004
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn) rs549810739 0.00004
NM_207122.2(EXT2):c.94A>G (p.Ile32Val) rs769478020 0.00004
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) rs145611597 0.00004
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn) rs148493676 0.00004
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000088.4(COL1A1):c.*682C>T rs77720683 0.00003
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) rs756297543 0.00003
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile) rs371233961 0.00003
NM_000127.3(EXT1):c.1143C>T (p.Gly381=) rs376640197 0.00003
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp) rs756701753 0.00003
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly) rs147847222 0.00003
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly) rs374887549 0.00003
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.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_000396.3(CTSK):c.-185C>T rs886045275 0.00003
NM_000396.3(CTSK):c.-91G>A rs587638612 0.00003
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met) rs371825581 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.1432G>A (p.Gly478Arg) rs758689905 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_001287.6(CLCN7):c.*1017C>A rs1430382276 0.00003
NM_001287.6(CLCN7):c.*1293G>A rs529027139 0.00003
NM_001287.6(CLCN7):c.*1491C>T rs886051688 0.00003
NM_001287.6(CLCN7):c.*614G>A rs886051694 0.00003
NM_001287.6(CLCN7):c.1138G>A (p.Ala380Thr) rs553977226 0.00003
NM_001287.6(CLCN7):c.697G>A (p.Gly233Ser) rs774749842 0.00003
NM_001287.6(CLCN7):c.729C>T (p.Ala243=) rs542484303 0.00003
NM_001287.6(CLCN7):c.777C>T (p.Ala259=) rs746128123 0.00003
NM_001287.6(CLCN7):c.95G>C (p.Gly32Ala) rs537057233 0.00003
NM_001321396.3(IKBKG):c.-16+3G>A rs782367664 0.00003
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) rs1332140763 0.00003
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp) rs368744612 0.00003
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val) rs761341366 0.00003
NM_002334.4(LRP4):c.1433G>A (p.Arg478His) rs1349507715 0.00003
NM_002334.4(LRP4):c.1825G>A (p.Gly609Arg) rs1389594811 0.00003
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val) rs373683358 0.00003
NM_002334.4(LRP4):c.274G>A (p.Gly92Arg) rs754071316 0.00003
NM_002334.4(LRP4):c.323G>A (p.Arg108Gln) rs772332690 0.00003
NM_002334.4(LRP4):c.3344A>G (p.His1115Arg) rs758144252 0.00003
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu) rs749792822 0.00003
NM_002334.4(LRP4):c.448G>A (p.Asp150Asn) rs200746048 0.00003
NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp) rs766025454 0.00003
NM_002334.4(LRP4):c.4517G>A (p.Arg1506Gln) rs142300637 0.00003
NM_002334.4(LRP4):c.676+4A>G rs759630167 0.00003
NM_002334.4(LRP4):c.825C>A (p.Phe275Leu) rs772586265 0.00003
NM_002334.4(LRP4):c.842G>A (p.Arg281His) rs146670859 0.00003
NM_002334.4(LRP4):c.968G>A (p.Arg323His) rs745607286 0.00003
NM_002335.4(LRP5):c.1096G>A (p.Val366Met) rs367543496 0.00003
NM_002335.4(LRP5):c.2173G>A (p.Val725Ile) rs769035778 0.00003
NM_002335.4(LRP5):c.3829G>T (p.Ala1277Ser) rs754686025 0.00003
NM_002335.4(LRP5):c.407A>C (p.Asn136Thr) rs759063931 0.00003
NM_002335.4(LRP5):c.408C>A (p.Asn136Lys) rs752352965 0.00003
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) rs748143518 0.00003
NM_002335.4(LRP5):c.523C>T (p.Arg175Trp) rs373823574 0.00003
NM_002335.4(LRP5):c.556C>T (p.Arg186Trp) rs200484935 0.00003
NM_002546.4(TNFRSF11B):c.400+5G>A rs372860364 0.00003
NM_003701.4(TNFSF11):c.*554A>G rs200749870 0.00003
NM_003701.4(TNFSF11):c.-64C>G rs886050251 0.00003
NM_003701.4(TNFSF11):c.435G>A (p.Ala145=) rs775866494 0.00003
NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=) rs376113816 0.00003
NM_003839.4(TNFRSF11A):c.784-5G>A rs572449155 0.00003
NM_003900.5(SQSTM1):c.*1480C>T rs886060510 0.00003
NM_003900.5(SQSTM1):c.*60C>T rs369609665 0.00003
NM_003900.5(SQSTM1):c.*624T>G rs11548619 0.00003
NM_003900.5(SQSTM1):c.-26C>T rs748135610 0.00003
NM_003900.5(SQSTM1):c.1166-5G>A rs765613974 0.00003
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu) rs759646319 0.00003
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu) rs761423892 0.00003
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His) rs758090054 0.00003
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg) rs781478225 0.00003
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn) rs774986849 0.00003
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys) rs138928957 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_006019.4(TCIRG1):c.1052G>A (p.Arg351His) rs758621844 0.00003
NM_006019.4(TCIRG1):c.1144C>T (p.Arg382Cys) rs566684294 0.00003
NM_006019.4(TCIRG1):c.1165+9C>T rs886048597 0.00003
NM_006019.4(TCIRG1):c.1438G>A (p.Ala480Thr) rs537359796 0.00003
NM_006019.4(TCIRG1):c.1843C>A (p.Leu615Ile) rs753897523 0.00003
NM_006019.4(TCIRG1):c.2181C>T (p.Cys727=) rs201017845 0.00003
NM_006019.4(TCIRG1):c.390C>T (p.Ala130=) rs750132812 0.00003
NM_006019.4(TCIRG1):c.990C>T (p.Pro330=) rs772355396 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_014028.4(OSTM1):c.*177A>G rs886060971 0.00003
NM_014028.4(OSTM1):c.*2769G>T rs998848985 0.00003
NM_014028.4(OSTM1):c.*2773G>A rs886060959 0.00003
NM_014028.4(OSTM1):c.*2990T>C rs376154345 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_025237.3(SOST):c.*219T>C rs1017350702 0.00003
NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) rs779562122 0.00003
NM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp) rs371103107 0.00003
NM_031471.6(FERMT3):c.1364G>A (p.Arg455His) rs763449183 0.00003
NM_031471.6(FERMT3):c.1445G>A (p.Gly482Asp) rs773457746 0.00003
NM_031471.6(FERMT3):c.1545+5C>T rs755201201 0.00003
NM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr) rs756707894 0.00003
NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn) rs375595381 0.00003
NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln) rs778967874 0.00003
NM_031471.6(FERMT3):c.616G>A (p.Asp206Asn) rs201973872 0.00003
NM_031471.6(FERMT3):c.629T>A (p.Leu210His) rs147374831 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_207122.2(EXT2):c.*339C>T rs759615273 0.00003
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu) rs773613001 0.00003
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala) rs1470381472 0.00003
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys) rs145507609 0.00003
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) rs771039412 0.00003
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys) rs762657738 0.00003
NM_207122.2(EXT2):c.626+3A>C rs200934340 0.00003
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp) rs183424469 0.00003
NM_000067.3(CA2):c.-53G>T rs886063148 0.00002
NM_000088.4(COL1A1):c.*251dup rs886053154 0.00002
NM_000088.4(COL1A1):c.*93A>G rs367971695 0.00002
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302 0.00002
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451 0.00002
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe) rs763107867 0.00002
NM_000127.3(EXT1):c.1705G>A (p.Val569Met) rs1428345482 0.00002
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro) rs758347621 0.00002
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp) rs765050783 0.00002
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln) rs748651137 0.00002
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_000396.4(CTSK):c.375A>G (p.Gly125=) rs766065317 0.00002
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln) rs781168584 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.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_001287.6(CLCN7):c.*1289G>A rs2038618955 0.00002
NM_001287.6(CLCN7):c.*135G>A rs1249374686 0.00002
NM_001287.6(CLCN7):c.*355C>T rs886051696 0.00002
NM_001287.6(CLCN7):c.*379C>T rs753373584 0.00002
NM_001287.6(CLCN7):c.*396G>A rs149057560 0.00002
NM_001287.6(CLCN7):c.*57C>T rs886051697 0.00002
NM_001287.6(CLCN7):c.1135A>G (p.Ile379Val) rs768971657 0.00002
NM_001287.6(CLCN7):c.285+7G>A rs372024516 0.00002
NM_001287.6(CLCN7):c.286-7C>A rs1191046309 0.00002
NM_001287.6(CLCN7):c.351+12G>A rs371035809 0.00002
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met) rs769661653 0.00002
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) rs143207358 0.00002
NM_002334.4(LRP4):c.1472G>A (p.Arg491Gln) rs774924956 0.00002
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) rs749530671 0.00002
NM_002334.4(LRP4):c.172G>A (p.Gly58Arg) rs139901577 0.00002
NM_002334.4(LRP4):c.2747G>A (p.Arg916His) rs752315031 0.00002
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser) rs765716290 0.00002
NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys) rs775608977 0.00002
NM_002334.4(LRP4):c.2863G>A (p.Gly955Arg) rs772232191 0.00002
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala) rs766174802 0.00002
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln) rs754092006 0.00002
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser) rs748719669 0.00002
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val) rs764853604 0.00002
NM_002334.4(LRP4):c.4082G>A (p.Arg1361His) rs779038341 0.00002
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala) rs200506943 0.00002
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp) rs546318025 0.00002
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser) rs774058346 0.00002
NM_002334.4(LRP4):c.5179G>A (p.Ala1727Thr) rs914781633 0.00002
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala) rs367608390 0.00002
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr) rs778676466 0.00002
NM_002334.4(LRP4):c.5654G>A (p.Arg1885Gln) rs779079160 0.00002
NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly) rs749482785 0.00002
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys) rs772004553 0.00002
NM_002335.4(LRP5):c.1076C>T (p.Thr359Met) rs746292760 0.00002
NM_002335.4(LRP5):c.148G>A (p.Gly50Arg) rs558895370 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002335.4(LRP5):c.2123C>T (p.Ser708Leu) rs532035027 0.00002
NM_002335.4(LRP5):c.2134G>A (p.Val712Met) rs765239493 0.00002
NM_002335.4(LRP5):c.2449C>T (p.Arg817Cys) rs775431782 0.00002
NM_002335.4(LRP5):c.2695C>T (p.Arg899Cys) rs760734426 0.00002
NM_002335.4(LRP5):c.2827C>T (p.Pro943Ser) rs776554205 0.00002
NM_002335.4(LRP5):c.3307C>T (p.Arg1103Cys) rs768840999 0.00002
NM_002335.4(LRP5):c.3427+12G>A rs756103866 0.00002
NM_002335.4(LRP5):c.3637+4C>T rs746451473 0.00002
NM_002335.4(LRP5):c.3656G>A (p.Arg1219His) rs143924910 0.00002
NM_002335.4(LRP5):c.3679A>G (p.Ile1227Val) rs949211640 0.00002
NM_002335.4(LRP5):c.4106T>C (p.Met1369Thr) rs746686714 0.00002
NM_002335.4(LRP5):c.4139G>T (p.Ser1380Ile) rs1300430679 0.00002
NM_002335.4(LRP5):c.4432G>A (p.Val1478Ile) rs758606794 0.00002
NM_002546.4(TNFRSF11B):c.400+15G>A rs757467378 0.00002
NM_003701.4(TNFSF11):c.148G>A (p.Val50Met) rs779371056 0.00002
NM_003701.4(TNFSF11):c.849A>G (p.Leu283=) rs199769531 0.00002
NM_003839.4(TNFRSF11A):c.*423G>A rs980089410 0.00002
NM_003839.4(TNFRSF11A):c.*759C>G rs1048132784 0.00002
NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=) rs772827300 0.00002
NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=) rs200952751 0.00002
NM_003900.5(SQSTM1):c.*39C>G rs376209849 0.00002
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu) rs772889843 0.00002
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val) rs772122047 0.00002
NM_003900.5(SQSTM1):c.1166-1G>A rs529512338 0.00002
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp) rs539942101 0.00002
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val) rs779786150 0.00002
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser) rs748555662 0.00002
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val) rs1302810798 0.00002
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=) rs1449269769 0.00002
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe) rs763040103 0.00002
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met) rs181263868 0.00002
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val) rs755702835 0.00002
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg) rs748170760 0.00002
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys) rs548787835 0.00002
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys) rs750256905 0.00002
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp) rs758625124 0.00002
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met) rs371832577 0.00002
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg) rs368010261 0.00002
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys) rs769873457 0.00002
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=) rs769297000 0.00002
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro) rs745853858 0.00002
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser) rs1194274800 0.00002
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly) rs148559402 0.00002
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu) rs376459756 0.00002
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr) rs1367793899 0.00002
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr) rs777431896 0.00002
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) rs747589104 0.00002
NM_004252.5(NHERF1):c.425A>G (p.Lys142Arg) rs1381259383 0.00002
NM_006019.4(TCIRG1):c.1066G>A (p.Asp356Asn) rs372701023 0.00002
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys) rs375809635 0.00002
NM_006019.4(TCIRG1):c.1165+11C>T rs745876497 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1294G>A (p.Ala432Thr) rs772440359 0.00002
NM_006019.4(TCIRG1):c.1488G>A (p.Thr496=) rs368168053 0.00002
NM_006019.4(TCIRG1):c.1674-8C>T rs754864356 0.00002
NM_006019.4(TCIRG1):c.1875C>G (p.Leu625=) rs758830999 0.00002
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val) rs377034463 0.00002
NM_006019.4(TCIRG1):c.840G>A (p.Gln280=) rs1436170727 0.00002
NM_006019.4(TCIRG1):c.869C>T (p.Pro290Leu) rs886048596 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_014028.4(OSTM1):c.*1844T>G rs1270573422 0.00002
NM_014028.4(OSTM1):c.279C>T (p.Asn93=) rs542761263 0.00002
NM_014028.4(OSTM1):c.558A>G (p.Thr186=) rs150309395 0.00002
NM_020638.3(FGF23):c.*944G>A rs561820380 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.852G>A (p.Met284Ile) rs782503732 0.00002
NM_025237.3(SOST):c.*1267C>G rs76802447 0.00002
NM_025237.3(SOST):c.143C>T (p.Pro48Leu) rs779039644 0.00002
NM_025237.3(SOST):c.177G>A (p.Ala59=) rs201706408 0.00002
NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) rs142543888 0.00002
NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln) rs751183978 0.00002
NM_031471.6(FERMT3):c.1916C>T (p.Thr639Met) rs765844365 0.00002
NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn) rs141640835 0.00002
NM_031471.6(FERMT3):c.386G>A (p.Arg129His) rs773077169 0.00002
NM_031471.6(FERMT3):c.481C>G (p.Leu161Val) rs900256457 0.00002
NM_031471.6(FERMT3):c.598C>T (p.Arg200Trp) rs374745942 0.00002
NM_031471.6(FERMT3):c.599G>A (p.Arg200Gln) rs775750630 0.00002
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) rs776202905 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.600C>T (p.Gly200=) rs140150501 0.00002
NM_207122.2(EXT2):c.-26G>T rs369437823 0.00002
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) rs758785296 0.00002
NM_207122.2(EXT2):c.1079+5G>A rs773025398 0.00002
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr) rs199711832 0.00002
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00002
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly) rs760086935 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) rs752606551 0.00002
NM_207122.2(EXT2):c.343G>A (p.Val115Met) rs1470293557 0.00002
NM_207122.2(EXT2):c.497G>A (p.Arg166His) rs772821141 0.00002
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys) rs117329700 0.00002
NM_207122.2(EXT2):c.890G>A (p.Arg297His) rs773482624 0.00002
NM_000067.2(CA2):c.-176C>T rs886063146 0.00001
NM_000067.2(CA2):c.-84_-82dup rs886063147 0.00001
NM_000067.3(CA2):c.*562T>C rs886063153 0.00001
NM_000067.3(CA2):c.-43G>C rs556311734 0.00001
NM_000067.3(CA2):c.192T>C (p.His64=) rs759693878 0.00001
NM_000067.3(CA2):c.311G>T (p.Gly104Val) rs760867064 0.00001
NM_000067.3(CA2):c.339A>G (p.Lys113=) rs370128128 0.00001
NM_000067.3(CA2):c.40G>A (p.Glu14Lys) rs758659684 0.00001
NM_000067.3(CA2):c.539C>T (p.Pro180Leu) rs886063150 0.00001
NM_000067.3(CA2):c.87C>T (p.Ser29=) rs777914836 0.00001
NM_000088.4(COL1A1):c.*194G>A rs886053158 0.00001
NM_000088.4(COL1A1):c.*837G>A rs564977858 0.00001
NM_000088.4(COL1A1):c.-115G>A rs886053164 0.00001
NM_000088.4(COL1A1):c.-23G>A rs200689194 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1669-10C>A rs886053162 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) rs746453576 0.00001
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met) rs763025405 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000127.3(EXT1):c.*182A>C rs949394800 0.00001
NM_000127.3(EXT1):c.-717G>C rs1381790284 0.00001
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys) rs757411850 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val) rs773539946 0.00001
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys) rs1375505148 0.00001
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys) rs750748090 0.00001
NM_000127.3(EXT1):c.1504G>A (p.Val502Met) rs778048374 0.00001
NM_000127.3(EXT1):c.1536+6C>T rs765347315 0.00001
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly) rs1368926188 0.00001
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp) rs777698557 0.00001
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu) rs1305323658 0.00001
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg) rs1309175788 0.00001
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val) rs1823254644 0.00001
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp) rs146967463 0.00001
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn) rs1252579899 0.00001
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val) rs773393953 0.00001
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys) rs1373349863 0.00001
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg) rs1188494289 0.00001
NM_000127.3(EXT1):c.252G>C (p.Gln84His) rs376231630 0.00001
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu) rs778849200 0.00001
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly) rs1384997375 0.00001
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg) rs146127753 0.00001
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu) rs752226935 0.00001
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg) rs773394301 0.00001
NM_000127.3(EXT1):c.419G>T (p.Gly140Val) rs769557488 0.00001
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys) rs776678803 0.00001
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser) rs753036738 0.00001
NM_000127.3(EXT1):c.725C>T (p.Pro242Leu) rs906230630 0.00001
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp) rs1394508840 0.00001
NM_000376.3(VDR):c.*1178A>C rs886049428 0.00001
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.-84+5056C>T rs886049439 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.972C>T (p.Asn324=) rs754559635 0.00001
NM_000396.3(CTSK):c.-83G>A rs1485596531 0.00001
NM_000396.4(CTSK):c.115A>T (p.Asn39Tyr) rs771768736 0.00001
NM_000396.4(CTSK):c.365G>A (p.Arg122Gln) rs1553197383 0.00001
NM_000396.4(CTSK):c.551A>G (p.Asn184Ser) rs774888582 0.00001
NM_000396.4(CTSK):c.685G>A (p.Glu229Lys) rs200515162 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 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.226C>G (p.Pro76Ala) rs201394441 0.00001
NM_000444.6(PHEX):c.285C>G (p.Pro95=) rs1057515842 0.00001
NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg) rs1057518768 0.00001
NM_000785.4(CYP27B1):c.*295G>A rs886049724 0.00001
NM_000785.4(CYP27B1):c.*426_*428dup rs886049722 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.318G>A (p.Glu106=) rs1300048405 0.00001
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) rs1318459336 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.1252C>G (p.Leu418Val) rs778500281 0.00001
NM_001177316.2(SLC34A3):c.1517T>A (p.Leu506His) rs1017557592 0.00001
NM_001177316.2(SLC34A3):c.1783G>A (p.Ala595Thr) rs748004842 0.00001
NM_001177316.2(SLC34A3):c.547G>A (p.Asp183Asn) rs750369891 0.00001
NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly) rs766506036 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_001287.6(CLCN7):c.*1085G>A rs1174585279 0.00001
NM_001287.6(CLCN7):c.*1330C>T rs2038617678 0.00001
NM_001287.6(CLCN7):c.*24C>T rs1361452118 0.00001
NM_001287.6(CLCN7):c.*671T>C rs1427445361 0.00001
NM_001287.6(CLCN7):c.1207C>T (p.Arg403Ter) rs200789982 0.00001
NM_001287.6(CLCN7):c.132T>A (p.Ala44=) rs886051702 0.00001
NM_001287.6(CLCN7):c.1332C>T (p.Gly444=) rs749075927 0.00001
NM_001287.6(CLCN7):c.1524G>A (p.Thr508=) rs150009847 0.00001
NM_001287.6(CLCN7):c.1705A>G (p.Ile569Val) rs753172781 0.00001
NM_001287.6(CLCN7):c.2014-5T>C rs1032878925 0.00001
NM_001287.6(CLCN7):c.2331+14G>A rs886051698 0.00001
NM_001287.6(CLCN7):c.253C>T (p.His85Tyr) rs374263832 0.00001
NM_001287.6(CLCN7):c.352-11G>A rs764398895 0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_001287.6(CLCN7):c.821A>G (p.Lys274Arg) rs775085622 0.00001
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly) rs767110056 0.00001
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys) rs1446754894 0.00001
NM_002334.4(LRP4):c.1154G>A (p.Arg385Gln) rs772931812 0.00001
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met) rs776484311 0.00001
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly) rs1032020389 0.00001
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln) rs201502598 0.00001
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys) rs760105990 0.00001
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg) rs748357296 0.00001
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp) rs371763360 0.00001
NM_002334.4(LRP4):c.1696G>A (p.Gly566Ser) rs1941453950 0.00001
NM_002334.4(LRP4):c.1780G>A (p.Asp594Asn) rs779387728 0.00001
NM_002334.4(LRP4):c.1829G>A (p.Arg610His) rs17848218 0.00001
NM_002334.4(LRP4):c.1831C>T (p.Arg611Cys) rs771793515 0.00001
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu) rs886048355 0.00001
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met) rs752512047 0.00001
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) rs199654257 0.00001
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met) rs777222715 0.00001
NM_002334.4(LRP4):c.2216-3C>T rs555994387 0.00001
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln) rs545112106 0.00001
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys) rs376444422 0.00001
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) rs190872977 0.00001
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr) rs754708237 0.00001
NM_002334.4(LRP4):c.2593G>A (p.Val865Met) rs765202931 0.00001
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp) rs776260999 0.00001
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys) rs147259655 0.00001
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp) rs368011278 0.00001
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp) rs757565682 0.00001
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser) rs201695857 0.00001
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu) rs556889686 0.00001
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp) rs775191643 0.00001
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn) rs770071302 0.00001
NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met) rs751933622 0.00001
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln) rs150306458 0.00001
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=) rs767837337 0.00001
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu) rs1189743163 0.00001
NM_002334.4(LRP4):c.3580C>T (p.Arg1194Trp) rs746573834 0.00001
NM_002334.4(LRP4):c.3586G>A (p.Gly1196Arg) rs745459741 0.00001
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr) rs752888601 0.00001
NM_002334.4(LRP4):c.3699+5G>C rs745544336 0.00001
NM_002334.4(LRP4):c.3731A>G (p.Asn1244Ser) rs376299085 0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg) rs371205300 0.00001
NM_002334.4(LRP4):c.3865G>A (p.Val1289Met) rs756641717 0.00001
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) rs771126504 0.00001
NM_002334.4(LRP4):c.4043G>A (p.Cys1348Tyr) rs1940969409 0.00001
NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln) rs770974209 0.00001
NM_002334.4(LRP4):c.4109A>G (p.Asp1370Gly) rs1565782159 0.00001
NM_002334.4(LRP4):c.4134T>A (p.His1378Gln) rs763442262 0.00001
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser) rs768733310 0.00001
NM_002334.4(LRP4):c.4222G>A (p.Val1408Ile) rs777975583 0.00001
NM_002334.4(LRP4):c.4250G>A (p.Ser1417Asn) rs758719937 0.00001
NM_002334.4(LRP4):c.4270G>A (p.Gly1424Arg) rs1026948492 0.00001
NM_002334.4(LRP4):c.429T>C (p.Cys143=) rs1486932718 0.00001
NM_002334.4(LRP4):c.4369C>G (p.Leu1457Val) rs571418643 0.00001
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe) rs61738061 0.00001
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His) rs777932389 0.00001
NM_002334.4(LRP4):c.4432G>C (p.Val1478Leu) rs764880010 0.00001
NM_002334.4(LRP4):c.446C>T (p.Ser149Phe) rs1239578585 0.00001
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln) rs764079526 0.00001
NM_002334.4(LRP4):c.4503G>C (p.Leu1501Phe) rs375220795 0.00001
NM_002334.4(LRP4):c.4525C>T (p.Leu1509Phe) rs1940914910 0.00001
NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala) rs758635404 0.00001
NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys) rs756059712 0.00001
NM_002334.4(LRP4):c.461G>A (p.Arg154His) rs748199837 0.00001
NM_002334.4(LRP4):c.4634A>G (p.Asn1545Ser) rs142352845 0.00001
NM_002334.4(LRP4):c.4741C>T (p.Arg1581Cys) rs771144609 0.00001
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln) rs746746234 0.00001
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln) rs756543033 0.00001
NM_002334.4(LRP4):c.4943G>C (p.Cys1648Ser) rs769497270 0.00001
NM_002334.4(LRP4):c.4981G>A (p.Ala1661Thr) rs768284053 0.00001
NM_002334.4(LRP4):c.5071G>A (p.Glu1691Lys) rs528376810 0.00001
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn) rs1241649761 0.00001
NM_002334.4(LRP4):c.5234T>C (p.Met1745Thr) rs776705313 0.00001
NM_002334.4(LRP4):c.5362A>C (p.Asn1788His) rs1208850907 0.00001
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp) rs1208569811 0.00001
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile) rs779299308 0.00001
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser) rs765567296 0.00001
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met) rs368840169 0.00001
NM_002334.4(LRP4):c.5618G>A (p.Cys1873Tyr) rs1312872252 0.00001
NM_002334.4(LRP4):c.563C>T (p.Ala188Val) rs772245536 0.00001
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile) rs777229906 0.00001
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala) rs773770584 0.00001
NM_002334.4(LRP4):c.746G>A (p.Arg249His) rs780066978 0.00001
NM_002334.4(LRP4):c.806T>C (p.Met269Thr) rs776417067 0.00001
NM_002334.4(LRP4):c.812C>T (p.Thr271Met) rs768904639 0.00001
NM_002334.4(LRP4):c.851G>A (p.Arg284His) rs369307795 0.00001
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys) rs1257559745 0.00001
NM_002334.4(LRP4):c.974T>C (p.Ile325Thr) rs753709386 0.00001
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_002335.4(LRP5):c.1304C>T (p.Thr435Met) rs777314081 0.00001
NM_002335.4(LRP5):c.130C>T (p.Arg44Trp) rs371690402 0.00001
NM_002335.4(LRP5):c.1310C>T (p.Thr437Met) rs370901051 0.00001
NM_002335.4(LRP5):c.1337A>G (p.Asn446Ser) rs771268909 0.00001
NM_002335.4(LRP5):c.1393G>A (p.Ala465Thr) rs755886863 0.00001
NM_002335.4(LRP5):c.1484G>A (p.Arg495His) rs200409162 0.00001
NM_002335.4(LRP5):c.1693C>T (p.Arg565Cys) rs745350421 0.00001
NM_002335.4(LRP5):c.1910T>C (p.Met637Thr) rs1045994595 0.00001
NM_002335.4(LRP5):c.1960G>A (p.Ala654Thr) rs747131775 0.00001
NM_002335.4(LRP5):c.2020G>A (p.Val674Ile) rs543279405 0.00001
NM_002335.4(LRP5):c.2051T>C (p.Val684Ala) rs1339222045 0.00001
NM_002335.4(LRP5):c.2137G>C (p.Val713Leu) rs751720886 0.00001
NM_002335.4(LRP5):c.220A>G (p.Lys74Glu) rs765603774 0.00001
NM_002335.4(LRP5):c.2431A>G (p.Ile811Val) rs758364834 0.00001
NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser) rs776947784 0.00001
NM_002335.4(LRP5):c.2609G>A (p.Arg870Gln) rs774814837 0.00001
NM_002335.4(LRP5):c.2639C>A (p.Thr880Asn) rs768364811 0.00001
NM_002335.4(LRP5):c.2764G>A (p.Gly922Ser) rs773895575 0.00001
NM_002335.4(LRP5):c.2767G>A (p.Gly923Ser) rs771724060 0.00001
NM_002335.4(LRP5):c.3148G>A (p.Val1050Ile) rs577519439 0.00001
NM_002335.4(LRP5):c.3227C>T (p.Ala1076Val) rs761682970 0.00001
NM_002335.4(LRP5):c.3233G>A (p.Arg1078Gln) rs371323193 0.00001
NM_002335.4(LRP5):c.3280G>A (p.Glu1094Lys) rs1433868957 0.00001
NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser) rs770787447 0.00001
NM_002335.4(LRP5):c.3407T>C (p.Ile1136Thr) rs776839535 0.00001
NM_002335.4(LRP5):c.358A>G (p.Lys120Glu) rs752483392 0.00001
NM_002335.4(LRP5):c.3614A>C (p.Glu1205Ala) rs1260043027 0.00001
NM_002335.4(LRP5):c.3733G>A (p.Val1245Met) rs1215728276 0.00001
NM_002335.4(LRP5):c.3836G>A (p.Arg1279His) rs145293239 0.00001
NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp) rs370347973 0.00001
NM_002335.4(LRP5):c.3920G>A (p.Arg1307Gln) rs760090713 0.00001
NM_002335.4(LRP5):c.3947G>A (p.Arg1316His) rs780957124 0.00001
NM_002335.4(LRP5):c.4036G>A (p.Gly1346Ser) rs747638441 0.00001
NM_002335.4(LRP5):c.4066G>A (p.Asp1356Asn) rs1257556169 0.00001
NM_002335.4(LRP5):c.4168G>A (p.Val1390Ile) rs745582449 0.00001
NM_002335.4(LRP5):c.4258G>A (p.Gly1420Arg) rs778832210 0.00001
NM_002335.4(LRP5):c.425G>A (p.Arg142Gln) rs368198391 0.00001
NM_002335.4(LRP5):c.4324G>A (p.Gly1442Ser) rs778882996 0.00001
NM_002335.4(LRP5):c.4420G>A (p.Asp1474Asn) rs959633003 0.00001
NM_002335.4(LRP5):c.4518G>A (p.Thr1506=) rs764288902 0.00001
NM_002335.4(LRP5):c.4561A>G (p.Ile1521Val) rs1371991892 0.00001
NM_002335.4(LRP5):c.4586+3A>G rs374747007 0.00001
NM_002335.4(LRP5):c.4609G>A (p.Ala1537Thr) rs144376510 0.00001
NM_002335.4(LRP5):c.4720C>G (p.Pro1574Ala) rs748088266 0.00001
NM_002335.4(LRP5):c.4757C>T (p.Ala1586Val) rs767157733 0.00001
NM_002335.4(LRP5):c.739G>A (p.Gly247Arg) rs773226526 0.00001
NM_002546.3(TNFRSF11B):c.-191C>G rs886062648 0.00001
NM_002546.3(TNFRSF11B):c.-99G>A rs886062647 0.00001
NM_002546.4(TNFRSF11B):c.*487T>C rs1421622252 0.00001
NM_002546.4(TNFRSF11B):c.*505A>G rs1812213517 0.00001
NM_002546.4(TNFRSF11B):c.*799G>A rs1397220907 0.00001
NM_002546.4(TNFRSF11B):c.720A>G (p.Ile240Met) rs767927201 0.00001
NM_002615.7(SERPINF1):c.336G>T (p.Leu112Phe) rs749212971 0.00001
NM_003052.5(SLC34A1):c.*212G>T rs749467217 0.00001
NM_003052.5(SLC34A1):c.*392A>G rs886060470 0.00001
NM_003052.5(SLC34A1):c.*505C>T rs1434332460 0.00001
NM_003052.5(SLC34A1):c.*60G>A rs886060467 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His) rs750711955 0.00001
NM_003052.5(SLC34A1):c.110-6C>T rs773115741 0.00001
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr) rs184668287 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) rs758639329 0.00001
NM_003052.5(SLC34A1):c.315A>C (p.Pro105=) rs758409228 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) rs753903046 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_003701.4(TNFSF11):c.*113G>A rs886050253 0.00001
NM_003701.4(TNFSF11):c.*152A>G rs886050254 0.00001
NM_003701.4(TNFSF11):c.-104C>T rs1873181204 0.00001
NM_003701.4(TNFSF11):c.-4C>T rs781185506 0.00001
NM_003701.4(TNFSF11):c.403G>A (p.Val135Ile) rs201389502 0.00001
NM_003701.4(TNFSF11):c.533-8C>T rs1869458758 0.00001
NM_003701.4(TNFSF11):c.704A>G (p.Tyr235Cys) rs1368801585 0.00001
NM_003701.4(TNFSF11):c.851G>A (p.Arg284Gln) rs61761332 0.00001
NM_003839.4(TNFRSF11A):c.*420G>C rs1324561922 0.00001
NM_003839.4(TNFRSF11A):c.*501G>A rs886054091 0.00001
NM_003839.4(TNFRSF11A):c.*693T>G rs886054095 0.00001
NM_003839.4(TNFRSF11A):c.*93G>T rs965196006 0.00001
NM_003839.4(TNFRSF11A):c.-22G>T rs1273385769 0.00001
NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile) rs764498229 0.00001
NM_003839.4(TNFRSF11A):c.1847C>T (p.Ala616Val) rs961173072 0.00001
NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=) rs369418441 0.00001
NM_003839.4(TNFRSF11A):c.730+6G>C rs554552883 0.00001
NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile) rs749136654 0.00001
NM_003900.5(SQSTM1):c.*1273C>T rs1443080077 0.00001
NM_003900.5(SQSTM1):c.*259G>A rs886060505 0.00001
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala) rs1250501488 0.00001
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala) rs1355424687 0.00001
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs) rs781417955 0.00001
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys) rs535932454 0.00001
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser) rs776303544 0.00001
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val) rs1447276382 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys) rs1471403162 0.00001
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr) rs752910741 0.00001
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val) rs1241285995 0.00001
NM_003900.5(SQSTM1):c.205+6C>T rs1286712928 0.00001
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys) rs368853286 0.00001
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro) rs1208284061 0.00001
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His) rs766411872 0.00001
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys) rs1295820640 0.00001
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn) rs1181188986 0.00001
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly) rs752438818 0.00001
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys) rs750784335 0.00001
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln) rs778554903 0.00001
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp) rs771903158 0.00001
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val) rs1209470881 0.00001
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn) rs753212399 0.00001
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile) rs1309887153 0.00001
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg) rs374417389 0.00001
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp) rs1442832120 0.00001
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly) rs377198490 0.00001
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg) rs200731802 0.00001
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln) rs778537429 0.00001
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=) rs878982215 0.00001
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys) rs867275286 0.00001
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu) rs1397353855 0.00001
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu) rs757778292 0.00001
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn) rs1325278483 0.00001
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu) rs1353365075 0.00001
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val) rs778679611 0.00001
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr) rs745788957 0.00001
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg) rs763179729 0.00001
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val) rs753685955 0.00001
NM_003900.5(SQSTM1):c.806C>T (p.Thr269Ile) rs185313167 0.00001
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr) rs757493001 0.00001
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val) rs541356917 0.00001
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg) rs1460912506 0.00001
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser) rs1225559170 0.00001
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser) rs1156716975 0.00001
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu) rs755411592 0.00001
NM_004252.5(NHERF1):c.913A>G (p.Lys305Glu) rs938666218 0.00001
NM_004252.5(NHERF1):c.940A>G (p.Thr314Ala) rs1567826349 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.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_006019.4(TCIRG1):c.*34G>A rs772507621 0.00001
NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His) rs755474518 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1305+10G>A rs1405179710 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1402G>A (p.Ala468Thr) rs774244420 0.00001
NM_006019.4(TCIRG1):c.1417C>T (p.Pro473Ser) rs750456593 0.00001
NM_006019.4(TCIRG1):c.1508A>G (p.Asn503Ser) rs369803798 0.00001
NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile) rs755559179 0.00001
NM_006019.4(TCIRG1):c.1540T>A (p.Phe514Ile) rs776489478 0.00001
NM_006019.4(TCIRG1):c.1587C>A (p.Phe529Leu) rs376351835 0.00001
NM_006019.4(TCIRG1):c.1663T>C (p.Phe555Leu) rs779779379 0.00001
NM_006019.4(TCIRG1):c.1693C>T (p.Arg565Trp) rs890729823 0.00001
NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp) rs563996115 0.00001
NM_006019.4(TCIRG1):c.1718A>G (p.Glu573Gly) rs576389893 0.00001
NM_006019.4(TCIRG1):c.1825C>T (p.His609Tyr) rs751612634 0.00001
NM_006019.4(TCIRG1):c.1845C>T (p.Leu615=) rs755196821 0.00001
NM_006019.4(TCIRG1):c.1887+10G>A rs1241903068 0.00001
NM_006019.4(TCIRG1):c.1894G>A (p.Val632Ile) rs760670339 0.00001
NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His) rs763065648 0.00001
NM_006019.4(TCIRG1):c.2049C>T (p.Asp683=) rs780969471 0.00001
NM_006019.4(TCIRG1):c.2071T>C (p.Ser691Pro) rs772173081 0.00001
NM_006019.4(TCIRG1):c.2115C>T (p.Ala705=) rs769840926 0.00001
NM_006019.4(TCIRG1):c.2119-13A>T rs886048600 0.00001
NM_006019.4(TCIRG1):c.2122G>A (p.Val708Ile) rs573002924 0.00001
NM_006019.4(TCIRG1):c.2232C>T (p.His744=) rs774906865 0.00001
NM_006019.4(TCIRG1):c.2358T>A (p.Ala786=) rs776554801 0.00001
NM_006019.4(TCIRG1):c.2443G>A (p.Gly815Ser) rs1308533755 0.00001
NM_006019.4(TCIRG1):c.2486A>G (p.Asp829Gly) rs147175413 0.00001
NM_006019.4(TCIRG1):c.249G>A (p.Lys83=) rs367708208 0.00001
NM_006019.4(TCIRG1):c.260C>T (p.Pro87Leu) rs982462013 0.00001
NM_006019.4(TCIRG1):c.394C>T (p.Leu132=) rs1410683808 0.00001
NM_006019.4(TCIRG1):c.417+10C>T rs1224261645 0.00001
NM_006019.4(TCIRG1):c.426C>T (p.Ala142=) rs1006980323 0.00001
NM_006019.4(TCIRG1):c.504-12C>T rs1263185890 0.00001
NM_006019.4(TCIRG1):c.550C>T (p.Arg184Cys) rs1375468915 0.00001
NM_006019.4(TCIRG1):c.571C>T (p.Arg191Cys) rs867224433 0.00001
NM_006019.4(TCIRG1):c.725A>G (p.His242Arg) rs759557477 0.00001
NM_006019.4(TCIRG1):c.745C>A (p.Gln249Lys) rs751988410 0.00001
NM_006019.4(TCIRG1):c.764G>A (p.Gly255Glu) rs1379501520 0.00001
NM_006019.4(TCIRG1):c.776A>T (p.Gln259Leu) rs1229696229 0.00001
NM_006019.4(TCIRG1):c.911T>C (p.Leu304Pro) rs1449131788 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr) rs773402451 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.1653T>C (p.Tyr551=) rs1452598874 0.00001
NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser) rs1475050245 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.802T>C (p.Tyr268His) rs17847050 0.00001
NM_013322.3(SNX10):c.284G>A (p.Arg95His) rs897553060 0.00001
NM_014028.4(OSTM1):c.*1023A>G rs886060967 0.00001
NM_014028.4(OSTM1):c.*1045T>C rs1175025828 0.00001
NM_014028.4(OSTM1):c.*1399T>A rs886060966 0.00001
NM_014028.4(OSTM1):c.*1455C>T rs528241865 0.00001
NM_014028.4(OSTM1):c.*1469G>A rs886060965 0.00001
NM_014028.4(OSTM1):c.*872T>C rs748365107 0.00001
NM_014028.4(OSTM1):c.325G>A (p.Val109Met) rs1456427265 0.00001
NM_016175.4(MRNIP):c.625A>G (p.Arg209Gly) rs778576827 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.457C>G (p.Pro153Ala) rs774018822 0.00001
NM_020638.3(FGF23):c.57G>A (p.Met19Ile) rs766148024 0.00001
NM_024514.5(CYP2R1):c.950A>G (p.Asn317Ser) rs147626987 0.00001
NM_025237.3(SOST):c.*1176A>G rs886052978 0.00001
NM_025237.3(SOST):c.*1498G>A rs866808140 0.00001
NM_025237.3(SOST):c.*666T>C rs538476059 0.00001
NM_025237.3(SOST):c.303C>T (p.Thr101=) rs758794256 0.00001
NM_025237.3(SOST):c.328G>A (p.Gly110Ser) rs886052981 0.00001
NM_025237.3(SOST):c.461C>T (p.Pro154Leu) rs760883576 0.00001
NM_031471.6(FERMT3):c.1013C>T (p.Ala338Val) rs1006026359 0.00001
NM_031471.6(FERMT3):c.1108C>T (p.Arg370Cys) rs867531303 0.00001
NM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys) rs1347504374 0.00001
NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys) rs377759054 0.00001
NM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys) rs772177008 0.00001
NM_031471.6(FERMT3):c.1301G>A (p.Arg434Gln) rs767054440 0.00001
NM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys) rs775462582 0.00001
NM_031471.6(FERMT3):c.1439G>C (p.Ser480Thr) rs772388994 0.00001
NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu) rs561391251 0.00001
NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile) rs769458086 0.00001
NM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn) rs763268722 0.00001
NM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys) rs775250461 0.00001
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met) rs767660746 0.00001
NM_031471.6(FERMT3):c.1746C>T (p.Gly582=) rs773426791 0.00001
NM_031471.6(FERMT3):c.1819A>G (p.Ile607Val) rs755669055 0.00001
NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser) rs1337201735 0.00001
NM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter) rs375257104 0.00001
NM_031471.6(FERMT3):c.1918C>T (p.Arg640Trp) rs886043481 0.00001
NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp) rs778780064 0.00001
NM_031471.6(FERMT3):c.262G>A (p.Asp88Asn) rs370418382 0.00001
NM_031471.6(FERMT3):c.34A>G (p.Ile12Val) rs1946335026 0.00001
NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg) rs1433083830 0.00001
NM_031471.6(FERMT3):c.409G>A (p.Glu137Lys) rs762181713 0.00001
NM_031471.6(FERMT3):c.427C>T (p.Arg143Trp) rs750690989 0.00001
NM_031471.6(FERMT3):c.475G>A (p.Glu159Lys) rs895025488 0.00001
NM_031471.6(FERMT3):c.516C>T (p.Gly172=) rs1484992100 0.00001
NM_031471.6(FERMT3):c.517G>A (p.Val173Met) rs756692622 0.00001
NM_031471.6(FERMT3):c.52C>G (p.Leu18Val) rs772115690 0.00001
NM_031471.6(FERMT3):c.535C>T (p.Arg179Trp) rs754848089 0.00001
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) rs777178622 0.00001
NM_031471.6(FERMT3):c.698C>T (p.Ser233Leu) rs140948450 0.00001
NM_031471.6(FERMT3):c.772G>A (p.Asp258Asn) rs139416960 0.00001
NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln) rs777040462 0.00001
NM_031471.6(FERMT3):c.901A>G (p.Ile301Val) rs906322276 0.00001
NM_031471.6(FERMT3):c.902T>C (p.Ile301Thr) rs1376001840 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.*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.*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.156C>T (p.Tyr52=) rs745669233 0.00001
NM_054027.6(ANKH):c.937G>A (p.Val313Met) rs1490930729 0.00001
NM_152424.4(AMER1):c.171G>T (p.Met57Ile) rs965178548 0.00001
NM_152424.4(AMER1):c.2029T>C (p.Ser677Pro) rs201053898 0.00001
NM_152424.4(AMER1):c.3130A>G (p.Met1044Val) rs369116388 0.00001
NM_207122.2(EXT2):c.*862T>G rs192098481 0.00001
NM_207122.2(EXT2):c.*93G>A rs886048278 0.00001
NM_207122.2(EXT2):c.-30-10T>A rs371744028 0.00001
NM_207122.2(EXT2):c.-31+453A>G rs1032612888 0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) rs371996957 0.00001
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val) rs1279920600 0.00001
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu) rs747153343 0.00001
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val) rs1473876438 0.00001
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys) rs1403873034 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu) rs1053473840 0.00001
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu) rs1955475218 0.00001
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val) rs779292816 0.00001
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser) rs1360036719 0.00001
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser) rs1590640131 0.00001
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met) rs145279140 0.00001
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp) rs750549318 0.00001
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys) rs763384036 0.00001
NM_207122.2(EXT2):c.1575T>G (p.Pro525=) rs372914384 0.00001
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr) rs766600182 0.00001
NM_207122.2(EXT2):c.1712A>G (p.His571Arg) rs150392363 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro) rs771936445 0.00001
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp) rs755625888 0.00001
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) rs143048174 0.00001
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile) rs147587178 0.00001
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn) rs1038984851 0.00001
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu) rs762533540 0.00001
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr) rs1326355711 0.00001
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) rs550761834 0.00001
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser) rs1208541215 0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) rs202208526 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn) rs886048275 0.00001
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) rs375468766 0.00001
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) rs762292898 0.00001
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn) rs1182974716 0.00001
NC_000005.10:g.(?_179836426)_(179836603_?)del
NC_000005.9:g.(?_178413111)_(179263593_?)dup
NC_000005.9:g.(?_178770758)_(179263603_?)dup
NC_000005.9:g.(?_179220638)_(179263593_?)dup
NC_000005.9:g.(?_179260012)_(179260802_?)del
NC_000005.9:g.(?_179260567)_(179263593_?)dup
NC_000005.9:g.(?_179263416)_(179263593_?)del
NC_000007.14:g.26263639_26335651delinsCA
NC_000008.10:g.(?_116426251)_(120844804_?)dup
NC_000008.10:g.(?_117647788)_(120797526_?)dup
NC_000008.10:g.(?_118811951)_(118849450_?)dup
NC_000008.10:g.(?_118819446)_(119123285_?)dup
NC_000008.10:g.(?_119122304)_(119123285_?)dup
NC_000008.11:g.(?_118110065)_(118111066_?)dup
NC_000011.9:g.(?_44193141)_(44193312_?)dup
NC_000011.9:g.(?_44219359)_(44228529_?)del
NC_000011.9:g.(?_46880534)_(46893204_?)dup
NC_000011.9:g.(?_46880534)_(46918565_?)dup
NC_000011.9:g.(?_58916346)_(64972349_?)dup
NC_000011.9:g.(?_63974837)_(63990964_?)dup
NM_000067.2(CA2):c.-130C>A rs570970117
NM_000067.3(CA2):c.*374A>G rs886063151
NM_000067.3(CA2):c.*465A>C rs886063152
NM_000067.3(CA2):c.*535T>C rs1811887892
NM_000067.3(CA2):c.143_146del (p.Ser48fs) rs1564077060
NM_000067.3(CA2):c.281A>G (p.His94Arg) rs2130558149
NM_000067.3(CA2):c.508-7G>A rs886063149
NM_000067.3(CA2):c.575C>T (p.Thr192Ile) rs369229469
NM_000067.3(CA2):c.74G>A (p.Gly25Glu) rs1811610973
NM_000088.4(COL1A1):c.*1007_*1008del rs886053144
NM_000088.4(COL1A1):c.*1026TG[1] rs878983048
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*1027G>T rs200882287
NM_000088.4(COL1A1):c.*1027del rs878912123
NM_000088.4(COL1A1):c.*1029_*1031del rs886053143
NM_000088.4(COL1A1):c.*1030_*1031del rs886053142
NM_000088.4(COL1A1):c.*1045del rs886053141
NM_000088.4(COL1A1):c.*1316C>G rs967567610
NM_000088.4(COL1A1):c.*1324A>G rs886053140
NM_000088.4(COL1A1):c.*215del rs886053157
NM_000088.4(COL1A1):c.*242_*244dup rs56302025
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*245_*246dup rs886053155
NM_000088.4(COL1A1):c.*245del rs886053156
NM_000088.4(COL1A1):c.*255dup rs886053153
NM_000088.4(COL1A1):c.*257_*258dup rs886053152
NM_000088.4(COL1A1):c.*258dup rs886053152
NM_000088.4(COL1A1):c.*259_*260insAT rs886053151
NM_000088.4(COL1A1):c.*356T>A rs1906365029
NM_000088.4(COL1A1):c.*437A>C rs886053150
NM_000088.4(COL1A1):c.*623G>A rs886053149
NM_000088.4(COL1A1):c.*733G>A rs886053148
NM_000088.4(COL1A1):c.*73C>A rs1906402899
NM_000088.4(COL1A1):c.*815A>G rs886053146
NM_000088.4(COL1A1):c.*998_*999del rs886053145
NM_000088.4(COL1A1):c.-78_-77delinsAA rs886053163
NM_000088.4(COL1A1):c.-98G>C rs574683904
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1461+5G>A
NM_000088.4(COL1A1):c.1516-5A>G
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=) rs762086114
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala) rs1423591325
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.3099+7T>G rs201682029
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu) rs1906769403
NM_000088.4(COL1A1):c.3207+3A>G rs1906755287
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
NM_000088.4(COL1A1):c.804+15A>C rs148110802
NM_000088.4(COL1A1):c.957+15C>T rs779096006
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys) rs779303344
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys) rs1792298693
NM_000127.3(EXT1):c.*146G>C rs886062634
NM_000127.3(EXT1):c.*82C>G rs886062635
NM_000127.3(EXT1):c.-129A>G rs886062637
NM_000127.3(EXT1):c.-139A>G rs886062638
NM_000127.3(EXT1):c.-16G>A rs1817895495
NM_000127.3(EXT1):c.-612G>A rs886062640
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg) rs1587004341
NM_000127.3(EXT1):c.1013G>A (p.Arg338His) rs1288618931
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu) rs1206600641
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
NM_000127.3(EXT1):c.1056+4A>G
NM_000127.3(EXT1):c.1057-8T>C
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr) rs1812173796
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del) rs1782100732
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val) rs747020325
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
NM_000127.3(EXT1):c.1164+3A>G
NM_000127.3(EXT1):c.1165-3C>G rs1812078461
NM_000127.3(EXT1):c.1165-6T>G rs1812078551
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr) rs1812077443
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys) rs755694640
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro) rs1812075737
NM_000127.3(EXT1):c.1284+2dup
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe) rs2129749685
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu) rs1811942159
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu) rs1430395411
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly) rs2129749125
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser) rs2129749069
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr) rs746738537
NM_000127.3(EXT1):c.1417+6T>C rs1811940247
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn) rs759514310
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
NM_000127.3(EXT1):c.1481C>T (p.Ser494Phe)
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
NM_000127.3(EXT1):c.1536+3G>A rs2129740657
NM_000127.3(EXT1):c.1536+5G>C
NM_000127.3(EXT1):c.1536G>C (p.Gln512His) rs1811889486
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
NM_000127.3(EXT1):c.1645C>T (p.Arg549Cys)
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr) rs751582814
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr) rs2130045112
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln) rs755747479
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr) rs1823251698
NM_000127.3(EXT1):c.1883+6del
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del) rs1823215172
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu) rs187891947
NM_000127.3(EXT1):c.18C>G (p.Arg6=) rs1199624139
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu) rs1823214606
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
NM_000127.3(EXT1):c.197T>C (p.Val66Ala) rs1242925512
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp) rs2130046079
NM_000127.3(EXT1):c.200C>A (p.Pro67His) rs371817652
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg) rs371817652
NM_000127.3(EXT1):c.2055+5G>A rs1823212383
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys) rs1586987089
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met) rs756718693
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000127.3(EXT1):c.2156A>C (p.His719Pro) rs751787859
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
NM_000127.3(EXT1):c.2194C>T (p.Gln732Ter)
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs) rs2129679465
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
NM_000127.3(EXT1):c.2205T>C (p.Ile735=) rs1823135353
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
NM_000127.3(EXT1):c.238A>G (p.Ile80Val) rs1817886276
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
NM_000127.3(EXT1):c.260A>T (p.Asp87Val) rs2130044605
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn) rs1402667727
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn) rs2130044422
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu) rs1817884143
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe) rs769143352
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe) rs2130044245
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg) rs1178109514
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu) rs761940324
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe) rs1817880635
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser) rs1188458258
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg) rs1817880148
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr) rs2130043370
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro) rs1227559201
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp) rs1448140995
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser) rs1817878624
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys) rs775696069
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser) rs1817877271
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr) rs1817877229
NM_000127.3(EXT1):c.568_570del (p.His190del) rs1817877188
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn) rs1817877044
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu) rs2130042837
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala) rs1817876310
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys) rs1817876148
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe) rs1817893321
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
NM_000127.3(EXT1):c.654A>C (p.Lys218Asn)
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly) rs1554601506
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
NM_000127.3(EXT1):c.692_694del (p.Asp231del) rs1817873196
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg) rs1817893036
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu) rs1436385815
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser) rs1817871592
NM_000127.3(EXT1):c.773C>A (p.Pro258His) rs2130041856
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile) rs2130041754
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr) rs2130041549
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr) rs1586279403
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu) rs372750330
NM_000127.3(EXT1):c.874G>T (p.Val292Phe) rs1586279359
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser) rs1817868656
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg) rs1413726979
NM_000127.3(EXT1):c.934_936del (p.Cys312del) rs1817867722
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser) rs748945641
NM_000127.3(EXT1):c.962+5G>C
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer) rs2129791337
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
NM_000165.5(GJA1):c.932del (p.Ala311fs) rs778110855
NM_000376.3(VDR):c.*111C>A rs886049435
NM_000376.3(VDR):c.*1179del rs530894692
NM_000376.3(VDR):c.*1235CCAGC[4] rs11574130
NM_000376.3(VDR):c.*1253T>A rs886049427
NM_000376.3(VDR):c.*1505G>A rs1036167478
NM_000376.3(VDR):c.*1906C>G rs9729
NM_000376.3(VDR):c.*2034A>T rs886049424
NM_000376.3(VDR):c.*2100_*2105del rs886049422
NM_000376.3(VDR):c.*2102C>A rs371312471
NM_000376.3(VDR):c.*2102del rs886049423
NM_000376.3(VDR):c.*2118_*2122del rs17878969
NM_000376.3(VDR):c.*2122dup rs17878969
NM_000376.3(VDR):c.*2124dup rs886049419
NM_000376.3(VDR):c.*2226C>T rs11574136
NM_000376.3(VDR):c.*2359C>A rs886049416
NM_000376.3(VDR):c.*2391C>G rs886049415
NM_000376.3(VDR):c.*2529G>A rs771839812
NM_000376.3(VDR):c.*2658dup rs886049413
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.*948GAG[1] rs886049429
NM_000376.3(VDR):c.*97G>A rs548542386
NM_000376.3(VDR):c.-84+5083G>T rs527937423
NM_000376.3(VDR):c.-84+5133G>T rs11168292
NM_000376.3(VDR):c.1103G>T (p.Arg368Leu) rs376903517
NM_000376.3(VDR):c.1121C>G (p.Pro374Arg) rs200556498
NM_000376.3(VDR):c.1204C>T (p.Arg402Cys)
NM_000376.3(VDR):c.1229G>T (p.Cys410Phe) rs1945243453
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.446A>G (p.Asp149Gly)
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.86A>G (p.Asp29Gly) rs1280836121
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>C (p.Glu329Gln)
NM_000396.4(CTSK):c.*461C>A rs200974564
NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del) rs750595350
NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del) rs1553197476
NM_000396.4(CTSK):c.243+4A>G rs2101953449
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro) rs762212949
NM_000396.4(CTSK):c.490C>A (p.Pro164Thr) rs886045274
NM_000396.4(CTSK):c.503T>C (p.Val168Ala) rs1309902734
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp) rs747914097
NM_000396.4(CTSK):c.606A>G (p.Pro202=) rs1654040742
NM_000396.4(CTSK):c.633G>A (p.Met211Ile)
NM_000396.4(CTSK):c.637_639del (p.Asn213del)
NM_000396.4(CTSK):c.749A>G (p.Asp250Gly) rs770343722
NM_000396.4(CTSK):c.881T>C (p.Ile294Thr)
NM_000396.4(CTSK):c.884A>C (p.Lys295Thr) rs2101947591
NM_000396.4(CTSK):c.890+6G>A rs886045273
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.-10G>T rs1057515841
NM_000444.6(PHEX):c.-126C>A rs185830047
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) rs376461141
NM_000444.6(PHEX):c.1079+5G>A rs1556026071
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val) rs936722686
NM_000444.6(PHEX):c.1133T>G (p.Leu378Arg)
NM_000444.6(PHEX):c.1174-3C>G rs1446526598
NM_000444.6(PHEX):c.1586+14A>T rs771287470
NM_000444.6(PHEX):c.1645+3G>C
NM_000444.6(PHEX):c.1717G>A (p.Ala573Thr)
NM_000444.6(PHEX):c.1768+173A>G rs1602402549
NM_000444.6(PHEX):c.176G>T (p.Cys59Phe)
NM_000444.6(PHEX):c.1808G>C (p.Trp603Ser)
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
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.2040C>A (p.Asn680Lys) rs1556151526
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171
NM_000444.6(PHEX):c.2148-10C>A
NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu)
NM_000444.6(PHEX):c.436+5G>A rs1602273945
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843
NM_000444.6(PHEX):c.887T>C (p.Met296Thr)
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
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.1230G>C (p.Leu410=) rs1200364118
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.221C>T (p.Pro74Leu)
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.704C>A (p.Thr235Asn)
NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) rs1565811124
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.974C>T (p.Thr325Met) rs762118198
NM_001017535.1(VDR):c.-263A>C rs963429243
NM_001128831.4(CA1):c.368_369del (p.His123fs) rs768769200
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.1210G>A (p.Gly404Arg) rs759768852
NM_001177316.2(SLC34A3):c.1267G>A (p.Gly423Ser)
NM_001177316.2(SLC34A3):c.1273A>G (p.Thr425Ala)
NM_001177316.2(SLC34A3):c.1334A>G (p.Gln445Arg) rs1588849958
NM_001177316.2(SLC34A3):c.1351TTC[2] (p.Phe453del) rs761662543
NM_001177316.2(SLC34A3):c.1462G>C (p.Ala488Pro) rs149389629
NM_001177316.2(SLC34A3):c.1576CTC[1] (p.Leu527del) rs776275610
NM_001177316.2(SLC34A3):c.176-9T>G
NM_001177316.2(SLC34A3):c.1796T>A (p.Leu599Ter)
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.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.528G>A (p.Met176Ile)
NM_001177316.2(SLC34A3):c.544C>T (p.Arg182Trp) rs199747826
NM_001177316.2(SLC34A3):c.632G>A (p.Ser211Asn)
NM_001177316.2(SLC34A3):c.751G>C (p.Val251Leu) rs776182012
NM_001177316.2(SLC34A3):c.847-26T>C
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.956C>T (p.Thr319Met) rs769622295
NM_001177316.2(SLC34A3):c.980T>C (p.Leu327Pro) rs1836433909
NM_001287.5(CLCN7):c.-81C>T rs886051704
NM_001287.6(CLCN7):c.*1143_*1144dup rs146690487
NM_001287.6(CLCN7):c.*1215C>A rs893418963
NM_001287.6(CLCN7):c.*132C>T rs764192196
NM_001287.6(CLCN7):c.*1497dup rs373942084
NM_001287.6(CLCN7):c.*1623G>T rs1451036503
NM_001287.6(CLCN7):c.*359A>G rs762306226
NM_001287.6(CLCN7):c.*414C>T rs886051695
NM_001287.6(CLCN7):c.*592G>C rs184831951
NM_001287.6(CLCN7):c.*632C>G rs751460368
NM_001287.6(CLCN7):c.*717C>A rs886051693
NM_001287.6(CLCN7):c.*797G>T rs886051692
NM_001287.6(CLCN7):c.108G>T (p.Leu36=) rs766712653
NM_001287.6(CLCN7):c.1099-8C>T rs1188556155
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) rs1555465003
NM_001287.6(CLCN7):c.1208G>A (p.Arg403Gln) rs765444328
NM_001287.6(CLCN7):c.1448-15C>T rs370055983
NM_001287.6(CLCN7):c.1531G>C (p.Ala511Pro) rs2142371312
NM_001287.6(CLCN7):c.1626G>A (p.Ala542=) rs147838517
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)
NM_001287.6(CLCN7):c.1751T>C (p.Met584Thr)
NM_001287.6(CLCN7):c.1797+15C>G rs367688658
NM_001287.6(CLCN7):c.1797+4C>T rs200682842
NM_001287.6(CLCN7):c.1810A>G (p.Met604Val)
NM_001287.6(CLCN7):c.2021G>T (p.Arg674Leu) rs758816489
NM_001287.6(CLCN7):c.2028G>C (p.Gln676His) rs886051700
NM_001287.6(CLCN7):c.2030G>T (p.Gly677Val) rs2142366157
NM_001287.6(CLCN7):c.2124G>A (p.Leu708=) rs2038669299
NM_001287.6(CLCN7):c.2150G>A (p.Arg717His) rs886051699
NM_001287.6(CLCN7):c.285+8T>C rs2038938204
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)
NM_001287.6(CLCN7):c.629A>G (p.Lys210Arg)
NM_001287.6(CLCN7):c.689A>G (p.Lys230Arg) rs2142382909
NM_001287.6(CLCN7):c.698_712dup (p.Ser237_Val238insGlyValIleLeuSer) rs2142382851
NM_001287.6(CLCN7):c.774C>T (p.Ala258=) rs376136801
NM_001287.6(CLCN7):c.838C>T (p.Arg280Cys) rs1395527274
NM_001287.6(CLCN7):c.913G>A (p.Val305Met) rs558354107
NM_001287.6(CLCN7):c.95G>T (p.Gly32Val) rs537057233
NM_001904.4(CTNNB1):c.876A>C (p.Lys292Asn)
NM_002334.4(LRP4):c.1009T>G (p.Cys337Gly)
NM_002334.4(LRP4):c.1060G>A (p.Gly354Ser)
NM_002334.4(LRP4):c.1076A>T (p.Asn359Ile)
NM_002334.4(LRP4):c.1097C>T (p.Ala366Val) rs1941521066
NM_002334.4(LRP4):c.1110G>T (p.Gln370His)
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr) rs1164240481
NM_002334.4(LRP4):c.1118G>C (p.Arg373Pro)
NM_002334.4(LRP4):c.1126G>A (p.Val376Met) rs1243051904
NM_002334.4(LRP4):c.1187T>A (p.Val396Glu) rs2134851507
NM_002334.4(LRP4):c.1222G>A (p.Gly408Ser)
NM_002334.4(LRP4):c.1237G>A (p.Glu413Lys)
NM_002334.4(LRP4):c.1279C>T (p.Arg427Trp)
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln) rs569764064
NM_002334.4(LRP4):c.1289G>A (p.Arg430Gln)
NM_002334.4(LRP4):c.1309+5G>C
NM_002334.4(LRP4):c.1310-3C>T rs1941491191
NM_002334.4(LRP4):c.1333G>A (p.Ala445Thr) rs1023257694
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr) rs1555174047
NM_002334.4(LRP4):c.1436G>A (p.Arg479His)
NM_002334.4(LRP4):c.1436G>T (p.Arg479Leu)
NM_002334.4(LRP4):c.143A>G (p.Gln48Arg)
NM_002334.4(LRP4):c.1487A>G (p.Asn496Ser) rs746759136
NM_002334.4(LRP4):c.1488C>A (p.Asn496Lys) rs779961860
NM_002334.4(LRP4):c.1490T>G (p.Leu497Arg)
NM_002334.4(LRP4):c.1492A>C (p.Asn498His) rs750371073
NM_002334.4(LRP4):c.1535G>T (p.Ser512Ile) rs769948678
NM_002334.4(LRP4):c.1540+3A>G rs2134849214
NM_002334.4(LRP4):c.1560G>C (p.Trp520Cys)
NM_002334.4(LRP4):c.1623_1624inv (p.Gly542Arg)
NM_002334.4(LRP4):c.1627G>A (p.Ala543Thr)
NM_002334.4(LRP4):c.162C>G (p.Asp54Glu)
NM_002334.4(LRP4):c.1634G>A (p.Arg545Gln)
NM_002334.4(LRP4):c.1657C>G (p.Leu553Val) rs751911145
NM_002334.4(LRP4):c.1670G>A (p.Arg557Gln)
NM_002334.4(LRP4):c.1698-9_1698-5del rs1941399170
NM_002334.4(LRP4):c.1714G>A (p.Asp572Asn)
NM_002334.4(LRP4):c.1730C>T (p.Pro577Leu) rs1941398250
NM_002334.4(LRP4):c.1733G>A (p.Arg578His)
NM_002334.4(LRP4):c.1760C>G (p.Ser587Cys)
NM_002334.4(LRP4):c.1765C>T (p.Arg589Cys)
NM_002334.4(LRP4):c.1834A>T (p.Met612Leu)
NM_002334.4(LRP4):c.184G>A (p.Asp62Asn)
NM_002334.4(LRP4):c.1855C>T (p.His619Tyr)
NM_002334.4(LRP4):c.1985G>A (p.Ser662Asn)
NM_002334.4(LRP4):c.1990A>G (p.Asn664Asp) rs1190494235
NM_002334.4(LRP4):c.2026A>C (p.Ile676Leu)
NM_002334.4(LRP4):c.2032C>T (p.Arg678Cys)
NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe) rs2134837991
NM_002334.4(LRP4):c.2081G>A (p.Arg694His) rs1406466481
NM_002334.4(LRP4):c.2090C>T (p.Ala697Val)
NM_002334.4(LRP4):c.2092+5A>G
NM_002334.4(LRP4):c.2113A>G (p.Asn705Asp)
NM_002334.4(LRP4):c.2113AAC[1] (p.Asn706del) rs1565792675
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg) rs1382055371
NM_002334.4(LRP4):c.2201A>C (p.His734Pro)
NM_002334.4(LRP4):c.2213A>C (p.Gln738Pro)
NM_002334.4(LRP4):c.2213A>G (p.Gln738Arg)
NM_002334.4(LRP4):c.2215+5G>A rs1941370233
NM_002334.4(LRP4):c.2226G>C (p.Lys742Asn)
NM_002334.4(LRP4):c.2258G>A (p.Arg753His)
NM_002334.4(LRP4):c.2261G>A (p.Arg754Gln)
NM_002334.4(LRP4):c.229C>A (p.His77Asn)
NM_002334.4(LRP4):c.230A>G (p.His77Arg)
NM_002334.4(LRP4):c.2321G>A (p.Ser774Asn)
NM_002334.4(LRP4):c.2348G>A (p.Arg783Gln)
NM_002334.4(LRP4):c.2381C>T (p.Thr794Ile) rs2134828263
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn) rs753109967
NM_002334.4(LRP4):c.2428G>A (p.Val810Ile) rs1246395979
NM_002334.4(LRP4):c.2531A>G (p.Asn844Ser) rs2134821602
NM_002334.4(LRP4):c.2534C>T (p.Thr845Ile)
NM_002334.4(LRP4):c.2543G>C (p.Ser848Thr)
NM_002334.4(LRP4):c.2551A>G (p.Thr851Ala) rs2134821502
NM_002334.4(LRP4):c.256C>T (p.Arg86Cys)
NM_002334.4(LRP4):c.2579G>A (p.Arg860His)
NM_002334.4(LRP4):c.2607G>C (p.Met869Ile) rs1370824030
NM_002334.4(LRP4):c.2611G>A (p.Gly871Arg)
NM_002334.4(LRP4):c.2617A>G (p.Met873Val)
NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro) rs1592529316
NM_002334.4(LRP4):c.2735A>T (p.Tyr912Phe) rs756941634
NM_002334.4(LRP4):c.274G>C (p.Gly92Arg)
NM_002334.4(LRP4):c.2758G>A (p.Ala920Thr) rs1486508644
NM_002334.4(LRP4):c.2770A>G (p.Met924Val) rs1247727700
NM_002334.4(LRP4):c.2774A>G (p.Lys925Arg)
NM_002334.4(LRP4):c.2786T>G (p.Phe929Cys)
NM_002334.4(LRP4):c.2815-11G>T
NM_002334.4(LRP4):c.2869C>T (p.Arg957Cys)
NM_002334.4(LRP4):c.2911G>A (p.Ala971Thr)
NM_002334.4(LRP4):c.2918G>A (p.Arg973Gln)
NM_002334.4(LRP4):c.2936G>A (p.Arg979Gln)
NM_002334.4(LRP4):c.2989C>T (p.Arg997Cys)
NM_002334.4(LRP4):c.2990G>A (p.Arg997His)
NM_002334.4(LRP4):c.2995C>T (p.Arg999Trp)
NM_002334.4(LRP4):c.2996G>A (p.Arg999Gln)
NM_002334.4(LRP4):c.3002C>G (p.Pro1001Arg)
NM_002334.4(LRP4):c.3020C>A (p.Ala1007Asp) rs2134807106
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val) rs886048352
NM_002334.4(LRP4):c.3049T>C (p.Cys1017Arg) rs2134807022
NM_002334.4(LRP4):c.3062C>G (p.Pro1021Arg)
NM_002334.4(LRP4):c.3067C>A (p.Pro1023Thr)
NM_002334.4(LRP4):c.3100A>G (p.Ile1034Val)
NM_002334.4(LRP4):c.310G>A (p.Asp104Asn) rs2134865411
NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile) rs2134802507
NM_002334.4(LRP4):c.3151C>T (p.Leu1051Phe)
NM_002334.4(LRP4):c.3199C>T (p.Pro1067Ser)
NM_002334.4(LRP4):c.320C>T (p.Pro107Leu) rs2134864767
NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu) rs1555172311
NM_002334.4(LRP4):c.3267C>A (p.Asp1089Glu)
NM_002334.4(LRP4):c.3268C>T (p.Pro1090Ser)
NM_002334.4(LRP4):c.3272A>G (p.Gln1091Arg)
NM_002334.4(LRP4):c.3275A>G (p.Glu1092Gly)
NM_002334.4(LRP4):c.3277+5G>A rs374900441
NM_002334.4(LRP4):c.3292T>A (p.Ser1098Thr)
NM_002334.4(LRP4):c.3343C>A (p.His1115Asn)
NM_002334.4(LRP4):c.3345T>A (p.His1115Gln)
NM_002334.4(LRP4):c.3349G>A (p.Asp1117Asn)
NM_002334.4(LRP4):c.3364+3G>A
NM_002334.4(LRP4):c.3389C>T (p.Ala1130Val)
NM_002334.4(LRP4):c.3406C>T (p.Arg1136Trp) rs777439267
NM_002334.4(LRP4):c.3451G>A (p.Gly1151Ser) rs1941024656
NM_002334.4(LRP4):c.3452G>A (p.Gly1151Asp)
NM_002334.4(LRP4):c.3454A>G (p.Asn1152Asp)
NM_002334.4(LRP4):c.3455A>T (p.Asn1152Ile)
NM_002334.4(LRP4):c.3504T>G (p.Ser1168Arg) rs2134799809
NM_002334.4(LRP4):c.3551C>T (p.Thr1184Ile) rs2134798449
NM_002334.4(LRP4):c.3554A>T (p.Asp1185Val)
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser) rs387906883
NM_002334.4(LRP4):c.3557G>T (p.Trp1186Leu)
NM_002334.4(LRP4):c.356A>T (p.Asn119Ile)
NM_002334.4(LRP4):c.3571A>C (p.Lys1191Gln)
NM_002334.4(LRP4):c.3613C>T (p.Leu1205Phe)
NM_002334.4(LRP4):c.3641A>G (p.Asn1214Ser) rs1941000568
NM_002334.4(LRP4):c.3642T>G (p.Asn1214Lys)
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_002334.4(LRP4):c.3829C>T (p.Arg1277Cys)
NM_002334.4(LRP4):c.3844A>C (p.Thr1282Pro)
NM_002334.4(LRP4):c.3890T>C (p.Met1297Thr)
NM_002334.4(LRP4):c.3907G>A (p.Asp1303Asn) rs2134796086
NM_002334.4(LRP4):c.3908A>C (p.Asp1303Ala) rs777142871
NM_002334.4(LRP4):c.3911G>A (p.Arg1304Gln)
NM_002334.4(LRP4):c.3925+3G>A rs1217353454
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser) rs756790038
NM_002334.4(LRP4):c.3979C>T (p.Arg1327Trp)
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro) rs1565782170
NM_002334.4(LRP4):c.4133A>G (p.His1378Arg)
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser) rs765240067
NM_002334.4(LRP4):c.4147G>A (p.Glu1383Lys)
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala) rs202151304
NM_002334.4(LRP4):c.4148A>G (p.Glu1383Gly) rs202151304
NM_002334.4(LRP4):c.4175A>G (p.Tyr1392Cys) rs2134793655
NM_002334.4(LRP4):c.4229+4T>C rs1836121973
NM_002334.4(LRP4):c.4234G>A (p.Ala1412Thr) rs2134789997
NM_002334.4(LRP4):c.4264G>C (p.Val1422Leu) rs2134789849
NM_002334.4(LRP4):c.430+4G>A
NM_002334.4(LRP4):c.4346G>A (p.Arg1449Gln)
NM_002334.4(LRP4):c.4397T>C (p.Ile1466Thr)
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser) rs886048349
NM_002334.4(LRP4):c.4424C>G (p.Ala1475Gly) rs1314468807
NM_002334.4(LRP4):c.4478T>A (p.Ile1493Asn) rs1451422777
NM_002334.4(LRP4):c.4513G>C (p.Glu1505Gln)
NM_002334.4(LRP4):c.4577C>T (p.Thr1526Ile)
NM_002334.4(LRP4):c.4612C>T (p.Arg1538Trp)
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln) rs886048348
NM_002334.4(LRP4):c.4661G>A (p.Ser1554Asn)
NM_002334.4(LRP4):c.4676C>T (p.Pro1559Leu)
NM_002334.4(LRP4):c.4702T>G (p.Trp1568Gly) rs2134778108
NM_002334.4(LRP4):c.4727C>G (p.Thr1576Ser) rs2134778058
NM_002334.4(LRP4):c.4759G>T (p.Gly1587Cys)
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys) rs1346806071
NM_002334.4(LRP4):c.4816G>A (p.Val1606Ile) rs2134777729
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg) rs1940786470
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr) rs1592515719
NM_002334.4(LRP4):c.489G>C (p.Glu163Asp) rs1941618309
NM_002334.4(LRP4):c.4909T>C (p.Cys1637Arg) rs2134776522
NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg) rs767372563
NM_002334.4(LRP4):c.4934G>A (p.Ser1645Asn)
NM_002334.4(LRP4):c.4937G>C (p.Arg1646Pro) rs3816614
NM_002334.4(LRP4):c.4937G>T (p.Arg1646Leu) rs3816614
NM_002334.4(LRP4):c.4949T>G (p.Leu1650Arg)
NM_002334.4(LRP4):c.4985C>G (p.Thr1662Ser) rs1384073340
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) rs1455143794
NM_002334.4(LRP4):c.4991T>C (p.Met1664Thr) rs747440221
NM_002334.4(LRP4):c.5003G>A (p.Ser1668Asn) rs2134774974
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His) rs751407728
NM_002334.4(LRP4):c.5109G>T (p.Arg1703Ser)
NM_002334.4(LRP4):c.5113G>A (p.Gly1705Ser)
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro) rs560103351
NM_002334.4(LRP4):c.5140G>A (p.Val1714Ile) rs1002830453
NM_002334.4(LRP4):c.514G>A (p.Asp172Asn) rs780819863
NM_002334.4(LRP4):c.5162G>A (p.Gly1721Glu) rs2134765636
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe) rs1447336134
NM_002334.4(LRP4):c.5198G>A (p.Ser1733Asn) rs2134765445
NM_002334.4(LRP4):c.52+6C>A
NM_002334.4(LRP4):c.5243+6T>C rs376294734
NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn) rs1592509652
NM_002334.4(LRP4):c.525T>A (p.Asp175Glu)
NM_002334.4(LRP4):c.5283C>A (p.Asn1761Lys)
NM_002334.4(LRP4):c.5357T>C (p.Met1786Thr)
NM_002334.4(LRP4):c.5386-12T>C
NM_002334.4(LRP4):c.5402A>G (p.Asn1801Ser)
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del) rs769465803
NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn) rs373162825
NM_002334.4(LRP4):c.5441G>C (p.Cys1814Ser) rs760515633
NM_002334.4(LRP4):c.548-18C>G rs779705585
NM_002334.4(LRP4):c.5498G>T (p.Arg1833Leu)
NM_002334.4(LRP4):c.54C>T (p.Gly18=) rs372935440
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg) rs142462686
NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)
NM_002334.4(LRP4):c.5506C>G (p.Leu1836Val) rs2134750890
NM_002334.4(LRP4):c.5506C>T (p.Leu1836Phe)
NM_002334.4(LRP4):c.5507T>C (p.Leu1836Pro)
NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro)
NM_002334.4(LRP4):c.5512C>T (p.Arg1838Trp)
NM_002334.4(LRP4):c.5513G>T (p.Arg1838Leu)
NM_002334.4(LRP4):c.5524T>C (p.Cys1842Arg)
NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu)
NM_002334.4(LRP4):c.5607G>C (p.Glu1869Asp)
NM_002334.4(LRP4):c.5608C>T (p.Gln1870Ter)
NM_002334.4(LRP4):c.560C>T (p.Pro187Leu)
NM_002334.4(LRP4):c.5633C>T (p.Thr1878Ile) rs1940461595
NM_002334.4(LRP4):c.5678_5682del (p.Trp1893fs)
NM_002334.4(LRP4):c.5698T>C (p.Ser1900Pro)
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr) rs2134862174
NM_002334.4(LRP4):c.616G>A (p.Asp206Asn)
NM_002334.4(LRP4):c.637G>A (p.Asp213Asn)
NM_002334.4(LRP4):c.664G>A (p.Glu222Lys)
NM_002334.4(LRP4):c.682C>T (p.His228Tyr) rs2134861515
NM_002334.4(LRP4):c.713G>A (p.Cys238Tyr) rs770285774
NM_002334.4(LRP4):c.797-3C>T rs1941546855
NM_002334.4(LRP4):c.814G>A (p.Ala272Thr)
NM_002334.4(LRP4):c.820C>G (p.Gln274Glu)
NM_002334.4(LRP4):c.827G>A (p.Arg276His) rs1592543038
NM_002334.4(LRP4):c.83G>A (p.Gly28Asp) rs1183268699
NM_002334.4(LRP4):c.841C>T (p.Arg281Cys)
NM_002334.4(LRP4):c.862C>G (p.Arg288Gly)
NM_002334.4(LRP4):c.863G>A (p.Arg288His)
NM_002334.4(LRP4):c.86G>A (p.Arg29Gln)
NM_002334.4(LRP4):c.887C>G (p.Ala296Gly) rs1941543958
NM_002334.4(LRP4):c.926G>A (p.Ser309Asn)
NM_002334.4(LRP4):c.933A>C (p.Gln311His)
NM_002334.4(LRP4):c.952C>G (p.Leu318Val) rs2134854486
NM_002334.4(LRP4):c.970T>A (p.Cys324Ser) rs2134854401
NM_002335.4(LRP5):c.1412+11C>T rs202149761
NM_002335.4(LRP5):c.143C>G (p.Ala48Gly) rs2098614549
NM_002335.4(LRP5):c.1592A>G (p.Asn531Ser) rs2098653807
NM_002335.4(LRP5):c.1594G>C (p.Val532Leu) rs1554969579
NM_002335.4(LRP5):c.1675T>C (p.Tyr559His) rs2153162994
NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del) rs780882911
NM_002335.4(LRP5):c.2047G>A (p.Asp683Asn) rs1470530779
NM_002335.4(LRP5):c.2317G>A (p.Gly773Ser) rs775353605
NM_002335.4(LRP5):c.2318+3_2318+6del rs1292196959
NM_002335.4(LRP5):c.2359G>A (p.Val787Met) rs778567335
NM_002335.4(LRP5):c.2437T>C (p.Tyr813His) rs936323278
NM_002335.4(LRP5):c.2513G>A (p.Arg838Gln) rs559129140
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser) rs764138752
NM_002335.4(LRP5):c.3016G>A (p.Asp1006Asn) rs147758521
NM_002335.4(LRP5):c.3107G>T (p.Arg1036Leu) rs61889560
NM_002335.4(LRP5):c.3162C>A (p.Ser1054Arg) rs762600156
NM_002335.4(LRP5):c.316G>C (p.Gly106Arg) rs1565335132
NM_002335.4(LRP5):c.3187C>T (p.Arg1063Cys) rs753926639
NM_002335.4(LRP5):c.3237-16C>A rs748779058
NM_002335.4(LRP5):c.3391G>A (p.Ala1131Thr) rs1272835374
NM_002335.4(LRP5):c.3404G>A (p.Arg1135His) rs560826688
NM_002335.4(LRP5):c.3422T>C (p.Leu1141Pro)
NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del) rs72555376
NM_002335.4(LRP5):c.3528G>A (p.Met1176Ile) rs148217741
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln) rs1019409513
NM_002335.4(LRP5):c.3782C>G (p.Pro1261Arg) rs764259701
NM_002335.4(LRP5):c.3782C>T (p.Pro1261Leu) rs764259701
NM_002335.4(LRP5):c.3955G>A (p.Gly1319Ser) rs968164869
NM_002335.4(LRP5):c.4025G>C (p.Arg1342Pro) rs150088620
NM_002335.4(LRP5):c.4045G>A (p.Val1349Ile) rs2098675334
NM_002335.4(LRP5):c.4135G>A (p.Asp1379Asn) rs1008752977
NM_002335.4(LRP5):c.4199T>C (p.Met1400Thr) rs2153181249
NM_002335.4(LRP5):c.4252G>A (p.Ala1418Thr) rs2153181307
NM_002335.4(LRP5):c.4277A>G (p.Tyr1426Cys) rs931583330
NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu) rs199871539
NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del) rs774251511
NM_002335.4(LRP5):c.4667G>A (p.Arg1556His) rs764447598
NM_002335.4(LRP5):c.533G>A (p.Arg178Gln) rs183377804
NM_002335.4(LRP5):c.533G>T (p.Arg178Leu) rs183377804
NM_002335.4(LRP5):c.575C>T (p.Ser192Leu) rs549579496
NM_002335.4(LRP5):c.961T>C (p.Cys321Arg)
NM_002546.3(TNFRSF11B):c.-204C>T rs570347828
NM_002546.3(TNFRSF11B):c.-215C>T rs886062649
NM_002546.4(TNFRSF11B):c.*166C>G rs1812218708
NM_002546.4(TNFRSF11B):c.*207C>G rs886062646
NM_002546.4(TNFRSF11B):c.*412A>G rs1379870216
NM_002546.4(TNFRSF11B):c.*463T>A rs574050965
NM_002546.4(TNFRSF11B):c.139G>A (p.Gly47Ser) rs1812353362
NM_002546.4(TNFRSF11B):c.699C>A (p.Asn233Lys) rs150457771
NM_002546.4(TNFRSF11B):c.841G>T (p.Val281Leu) rs140782326
NM_002546.4(TNFRSF11B):c.884T>C (p.Leu295Pro) rs1586952570
NM_002546.4(TNFRSF11B):c.97G>A (p.Glu33Lys) rs202090603
NM_003040.4(SLC4A2):c.2048G>T (p.Gly683Val)
NM_003052.5(SLC34A1):c.*196C>T rs1182223345
NM_003052.5(SLC34A1):c.*406C>T rs1763052743
NM_003052.5(SLC34A1):c.*52C>T rs1763040748
NM_003052.5(SLC34A1):c.*79G>C rs886060468
NM_003052.5(SLC34A1):c.-48G>C rs886060466
NM_003052.5(SLC34A1):c.1052G>A (p.Gly351Glu)
NM_003052.5(SLC34A1):c.1187C>G (p.Pro396Arg)
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881
NM_003052.5(SLC34A1):c.596A>C (p.Asn199Thr)
NM_003701.4(TNFSF11):c.*119C>T rs200387399
NM_003701.4(TNFSF11):c.*221G>C rs1315042884
NM_003701.4(TNFSF11):c.*242A>G rs1594485076
NM_003701.4(TNFSF11):c.*261G>A rs995293287
NM_003701.4(TNFSF11):c.*94T>G rs886050252
NM_003701.4(TNFSF11):c.-147C>T rs1873177411
NM_003701.4(TNFSF11):c.-74C>T rs569615616
NM_003701.4(TNFSF11):c.-7G>C rs998463381
NM_003701.4(TNFSF11):c.254A>T (p.His85Leu) rs199910582
NM_003701.4(TNFSF11):c.2T>C (p.Met1Thr)
NM_003701.4(TNFSF11):c.424G>A (p.Ala142Thr) rs199529587
NM_003701.4(TNFSF11):c.433+13C>G rs1869132236
NM_003701.4(TNFSF11):c.572G>A (p.Arg191Gln)
NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) rs770524066
NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) rs760748407
NM_003839.4(TNFRSF11A):c.*1057A>T rs886054099
NM_003839.4(TNFRSF11A):c.*1178T>C rs1338926671
NM_003839.4(TNFRSF11A):c.*1211C>G rs1233818667
NM_003839.4(TNFRSF11A):c.*1301G>A rs45607736
NM_003839.4(TNFRSF11A):c.*1416C>T rs564830684
NM_003839.4(TNFRSF11A):c.*2289G>A rs1439582614
NM_003839.4(TNFRSF11A):c.*320G>C rs368158690
NM_003839.4(TNFRSF11A):c.*320dup rs552069161
NM_003839.4(TNFRSF11A):c.*321del rs886054088
NM_003839.4(TNFRSF11A):c.*379del rs886054089
NM_003839.4(TNFRSF11A):c.*454T>G rs886054090
NM_003839.4(TNFRSF11A):c.*464T>A rs1911661759
NM_003839.4(TNFRSF11A):c.*502G>T rs1018177597
NM_003839.4(TNFRSF11A):c.*556A>G rs886054092
NM_003839.4(TNFRSF11A):c.*625A>C rs1258163731
NM_003839.4(TNFRSF11A):c.*626_*627insCC rs886054093
NM_003839.4(TNFRSF11A):c.*751C>T rs886054097
NM_003839.4(TNFRSF11A):c.*811T>C rs886054098
NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=) rs1910368771
NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro) rs1911609900
NM_003839.4(TNFRSF11A):c.240G>T (p.Trp80Cys)
NM_003839.4(TNFRSF11A):c.284-4G>A rs761709562
NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys) rs867372893
NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg) rs886054084
NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser) rs766330561
NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln) rs886054083
NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser) rs1249788220
NM_003900.5(SQSTM1):c.*1235T>C rs886060508
NM_003900.5(SQSTM1):c.*1299GA[1] rs745365806
NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=) rs765964997
NM_003900.5(SQSTM1):c.*392C>T rs1459174904
NM_003900.5(SQSTM1):c.*431T>G rs1758600041
NM_003900.5(SQSTM1):c.*722T>C rs1758623010
NM_003900.5(SQSTM1):c.*725_*728dup rs144467418
NM_003900.5(SQSTM1):c.-7G>C rs907862704
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn) rs1554091442
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln) rs1554091448
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr) rs774512680
NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln) rs765610848
NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs) rs1758356210
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu) rs2113512735
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val) rs2113512757
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys) rs1582022482
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe) rs2113512860
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu) rs1298281008
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg) rs2113513106
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
NM_003900.5(SQSTM1):c.1166-2A>G
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr) rs2113524011
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn) rs2113524028
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr) rs1471635040
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser) rs1377640860
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr) rs2113524491
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro) rs770118706
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His) rs2113524577
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)
NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)
NM_003900.5(SQSTM1):c.165C>A (p.Phe55Leu) rs886060501
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu) rs778461636
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del) rs2113480023
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser) rs1411304344
NM_003900.5(SQSTM1):c.181G>A (p.Gly61Ser) rs749801323
NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
NM_003900.5(SQSTM1):c.205+9G>A rs1757759303
NM_003900.5(SQSTM1):c.206-9A>G rs2113484953
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp) rs2113484986
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala) rs1757838607
NM_003900.5(SQSTM1):c.239A>G (p.Asp80Gly) rs780177259
NM_003900.5(SQSTM1):c.253A>G (p.Met85Val) rs886060502
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile) rs1274176534
NM_003900.5(SQSTM1):c.301+6G>C
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del) rs2113487449
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) rs886060503
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly) rs1757886934
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile) rs1562654519
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val) rs866832054
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met) rs1582007866
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr) rs753212399
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu) rs372480231
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=) rs775988188
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr) rs773552098
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=) rs35266480
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln) rs118160361
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys) rs1229776140
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala) rs1392938040
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn) rs1757907176
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg) rs1562655554
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg) rs373585056
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val) rs377371202
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=) rs771036207
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr) rs1256909021
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu) rs1757909856
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His) rs1303154345
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser) rs1370363543
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del) rs747274001
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly) rs201263163
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys) rs201263163
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met) rs199663339
NM_003900.5(SQSTM1):c.674-18T>G rs1317780724
NM_003900.5(SQSTM1):c.674-8A>G
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp) rs1467107148
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
NM_003900.5(SQSTM1):c.754+5G>A
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr) rs753016349
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile) rs182522590
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala) rs988411948
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly) rs988411948
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met) rs372827450
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser) rs745853858
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe) rs202119215
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly) rs2113510695
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del) rs752009611
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr) rs760785371
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) rs759823891
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr) rs764205744
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu) rs754060027
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg) rs1012113887
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys) rs764111892
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg) rs2113510972
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met) rs200695664
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=) rs2113511316
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys) rs1436000961
NM_003900.5(SQSTM1):c.970del rs758377403
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys) rs1358261412
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu) rs1185406298
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del) rs778047147
NM_004252.5(NHERF1):c.107G>A (p.Gly36Asp)
NM_004252.5(NHERF1):c.809G>A (p.Arg270His)
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.1534G>A (p.Gly512Ser) rs377414504
NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) rs1264750963
NM_004407.4(DMP1):c.289A>G (p.Lys97Glu) rs886059685
NM_004407.4(DMP1):c.332A>G (p.Asp111Gly)
NM_005032.7(PLS3):c.347G>A (p.Gly116Glu) rs2147533013
NM_005032.7(PLS3):c.359C>T (p.Ser120Phe)
NM_005343.4(HRAS):c.278T>C (p.Ile93Thr) rs2133989896
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=) rs1555000463
NM_006019.4(TCIRG1):c.1006C>G (p.Leu336Val) rs1855355458
NM_006019.4(TCIRG1):c.1006C>T (p.Leu336=) rs1855355458
NM_006019.4(TCIRG1):c.1073C>T (p.Pro358Leu) rs2134445007
NM_006019.4(TCIRG1):c.1083C>G (p.Leu361=) rs532106336
NM_006019.4(TCIRG1):c.1100T>A (p.Phe367Tyr) rs913332283
NM_006019.4(TCIRG1):c.1119C>T (p.Gly373=) rs759279602
NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup) rs1554996686
NM_006019.4(TCIRG1):c.1153G>A (p.Glu385Lys) rs2134445416
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
NM_006019.4(TCIRG1):c.1306-2dup rs1554997880
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg) rs1348842114
NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=) rs570336313
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu) rs199914625
NM_006019.4(TCIRG1):c.1511T>A (p.Val504Asp) rs1855591352
NM_006019.4(TCIRG1):c.1528G>A (p.Gly510Arg) rs868702370
NM_006019.4(TCIRG1):c.1555-12C>T rs886048598
NM_006019.4(TCIRG1):c.1602G>A (p.Lys534=) rs1855645512
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=) rs534950651
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met) rs371505143
NM_006019.4(TCIRG1):c.1674-9del rs1855654196
NM_006019.4(TCIRG1):c.1680T>C (p.Phe560=) rs1855655326
NM_006019.4(TCIRG1):c.170G>T (p.Arg57Leu) rs150648332
NM_006019.4(TCIRG1):c.172T>C (p.Cys58Arg) rs1855184602
NM_006019.4(TCIRG1):c.17G>A (p.Arg6Gln) rs768203698
NM_006019.4(TCIRG1):c.1806_1811del (p.Ala603_Pro604del) rs1425479122
NM_006019.4(TCIRG1):c.1835_1837del (p.Asn612del) rs1554999148
NM_006019.4(TCIRG1):c.1853A>G (p.His618Arg) rs886048599
NM_006019.4(TCIRG1):c.1887+130C>T rs928213157
NM_006019.4(TCIRG1):c.1887+3G>C
NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del) rs1554999539
NM_006019.4(TCIRG1):c.1973_1975dup (p.Arg658dup) rs757802200
NM_006019.4(TCIRG1):c.1976_1978dup (p.His659dup) rs1554999610
NM_006019.4(TCIRG1):c.1978C>G (p.Arg660Gly) rs528045019
NM_006019.4(TCIRG1):c.1979G>A (p.Arg660His) rs746874956
NM_006019.4(TCIRG1):c.1979GCC[1] (p.Arg661_Arg662del) rs781509075
NM_006019.4(TCIRG1):c.197C>T (p.Thr66Ile) rs886048593
NM_006019.4(TCIRG1):c.1993AGG[1] (p.Arg666del) rs886332099
NM_006019.4(TCIRG1):c.2106A>G (p.Glu702=) rs771368616
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro) rs1279951928
NM_006019.4(TCIRG1):c.2274_2279dup (p.760LG[3]) rs761752296
NM_006019.4(TCIRG1):c.2279TGGGCC[4] (p.760LG[4]) rs199973759
NM_006019.4(TCIRG1):c.2293G>A (p.Glu765Lys) rs1855752104
NM_006019.4(TCIRG1):c.2301C>T (p.Gly767=) rs768701072
NM_006019.4(TCIRG1):c.2392C>T (p.Leu798=) rs1855760265
NM_006019.4(TCIRG1):c.2408_2410dup (p.Leu803dup) rs2134466694
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-2_2418delinsGGGTT
NM_006019.4(TCIRG1):c.243G>T (p.Pro81=) rs756073508
NM_006019.4(TCIRG1):c.2443G>C (p.Gly815Arg)
NM_006019.4(TCIRG1):c.2448G>C (p.Thr816=) rs139049989
NM_006019.4(TCIRG1):c.2475C>A (p.Phe825Leu) rs886048602
NM_006019.4(TCIRG1):c.261G>A (p.Pro87=) rs887998539
NM_006019.4(TCIRG1):c.269C>A (p.Pro90Gln) rs908094911
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.308G>C (p.Arg103Pro) rs775326246
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006019.4(TCIRG1):c.555G>C (p.Leu185=) rs886048595
NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del) rs1554995554
NM_006019.4(TCIRG1):c.624C>G (p.Pro208=) rs779281265
NM_006019.4(TCIRG1):c.634G>A (p.Glu212Lys)
NM_006019.4(TCIRG1):c.649A>G (p.Met217Val) rs1554995659
NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile) rs1554995662
NM_006019.4(TCIRG1):c.656T>C (p.Phe219Ser) rs748465503
NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del) rs1554995833
NM_006019.4(TCIRG1):c.807+18_807+54del rs1192256631
NM_006019.4(TCIRG1):c.934A>G (p.Ser312Gly) rs1855349604
NM_006019.4(TCIRG1):c.942_943insGTG (p.Thr314_His315insVal) rs779622577
NM_006019.4(TCIRG1):c.961G>A (p.Glu321Lys)
NM_006019.4(TCIRG1):c.961G>C (p.Glu321Gln) rs372690969
NM_006019.4(TCIRG1):c.979C>A (p.Arg327=) rs749361897
NM_006208.3(ENPP1):c.*103A>G rs934807026
NM_006208.3(ENPP1):c.*1290T>A rs886061073
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.*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.1437+3_1437+6del rs747843796
NM_006208.3(ENPP1):c.165G>A (p.Val55=) rs768034745
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.2191A>T (p.Asn731Tyr) rs748292010
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_006208.3(ENPP1):c.2444+10T>C rs947631280
NM_006208.3(ENPP1):c.332G>A (p.Arg111His) rs749866787
NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser) rs752171315
NM_014028.4(OSTM1):c.*1007G>A rs1053299538
NM_014028.4(OSTM1):c.*1932dup rs74900179
NM_014028.4(OSTM1):c.*2276C>T rs546976371
NM_014028.4(OSTM1):c.*2351del rs886060962
NM_014028.4(OSTM1):c.*2364A>G rs60621815
NM_014028.4(OSTM1):c.*2370dup rs58798743
NM_014028.4(OSTM1):c.*2487T>A rs981097901
NM_014028.4(OSTM1):c.*2488del rs879213270
NM_014028.4(OSTM1):c.*2515_*2516del rs562640840
NM_014028.4(OSTM1):c.*2517_*2518del rs886060960
NM_014028.4(OSTM1):c.*262C>G rs1771931979
NM_014028.4(OSTM1):c.*2707C>T rs1771876396
NM_014028.4(OSTM1):c.*2858A>G rs534652017
NM_014028.4(OSTM1):c.*291A>G rs886060970
NM_014028.4(OSTM1):c.*3280T>C rs1771868120
NM_014028.4(OSTM1):c.*778T>G rs756978751
NM_014028.4(OSTM1):c.*873A>G rs886060969
NM_014028.4(OSTM1):c.-52G>T rs886060974
NM_014028.4(OSTM1):c.280A>G (p.Ser94Gly) rs369188843
NM_014028.4(OSTM1):c.784-10C>G rs753191662
NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) rs781715787
NM_014028.4(OSTM1):c.950-12T>C rs886060972
NM_014798.3(PLEKHM1):c.217_239del (p.Gly73fs)
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.-55C>A rs760895385
NM_020638.3(FGF23):c.124C>G (p.Leu42Val)
NM_020638.3(FGF23):c.211+12T>G rs1865152731
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr) rs1865075955
NM_020638.3(FGF23):c.414G>C (p.Leu138=) rs1865054870
NM_020638.3(FGF23):c.60C>T (p.Ser20=) rs763114180
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp) rs1033823201
NM_020832.3(ZNF687):c.2810C>A (p.Pro937His) rs148402804
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr) rs1848277685
NM_024514.5(CYP2R1):c.1348G>C (p.Gly450Arg) rs1565176051
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_024652.6(LRRK1):c.1397C>T (p.Pro466Leu)
NM_024652.6(LRRK1):c.185A>G (p.Tyr62Cys)
NM_024652.6(LRRK1):c.3086A>G (p.Gln1029Arg)
NM_024652.6(LRRK1):c.4849C>T (p.Pro1617Ser)
NM_025237.3(SOST):c.*1063C>T rs1352568425
NM_025237.3(SOST):c.*1363C>T rs918885949
NM_025237.3(SOST):c.*1402T>G rs1974097858
NM_025237.3(SOST):c.*140A>G rs886052979
NM_025237.3(SOST):c.*569G>T rs1974108139
NM_025237.3(SOST):c.*689T>C rs1470510281
NM_025237.3(SOST):c.*883A>T rs1974104389
NM_025237.3(SOST):c.448G>A (p.Gly150Ser) rs548849329
NM_025237.3(SOST):c.533A>G (p.Glu178Gly) rs886052980
NM_031471.6(FERMT3):c.1029+6G>T
NM_031471.6(FERMT3):c.1030G>T (p.Asp344Tyr) rs1946632820
NM_031471.6(FERMT3):c.1042A>G (p.Thr348Ala) rs2134881583
NM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu) rs1946337090
NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln)
NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu)
NM_031471.6(FERMT3):c.107T>C (p.Val36Ala)
NM_031471.6(FERMT3):c.1104C>G (p.Gly368=) rs2134882687
NM_031471.6(FERMT3):c.1139C>T (p.Thr380Ile) rs1946639980
NM_031471.6(FERMT3):c.113G>C (p.Gly38Ala) rs2134828211
NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg)
NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr)
NM_031471.6(FERMT3):c.1205-3C>T
NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn)
NM_031471.6(FERMT3):c.124A>G (p.Ile42Val)
NM_031471.6(FERMT3):c.1311+13_1311+29del
NM_031471.6(FERMT3):c.1311+6T>G
NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly)
NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser)
NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) rs1946338724
NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg)
NM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser)
NM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del)
NM_031471.6(FERMT3):c.1471G>C (p.Asp491His) rs1203250020
NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys)
NM_031471.6(FERMT3):c.1497C>G (p.Pro499=) rs1400489114
NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe) rs773617643
NM_031471.6(FERMT3):c.1516C>T (p.Arg506Cys) rs184091587
NM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys) rs1267328953
NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg)
NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp)
NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys)
NM_031471.6(FERMT3):c.1613G>A (p.Arg538His) rs1205153436
NM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe)
NM_031471.6(FERMT3):c.163C>A (p.Arg55Ser) rs769352433
NM_031471.6(FERMT3):c.164G>A (p.Arg55His)
NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs) rs1591041141
NM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg) rs754239815
NM_031471.6(FERMT3):c.1712A>T (p.Asn571Ile) rs1946752193
NM_031471.6(FERMT3):c.1715A>G (p.Asn572Ser) rs867920578
NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln)
NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn)
NM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn)
NM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu)
NM_031471.6(FERMT3):c.1790del (p.Asn597fs)
NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp)
NM_031471.6(FERMT3):c.1813G>A (p.Val605Met)
NM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly) rs2134906064
NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp)
NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys)
NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg)
NM_031471.6(FERMT3):c.1895G>T (p.Gly632Val) rs1565299599
NM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn) rs2134906387
NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr)
NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter)
NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly)
NM_031471.6(FERMT3):c.1931G>A (p.Arg644His) rs368565732
NM_031471.6(FERMT3):c.1931G>C (p.Arg644Pro) rs368565732
NM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe)
NM_031471.6(FERMT3):c.1979A>G (p.His660Arg)
NM_031471.6(FERMT3):c.213G>C (p.Gln71His)
NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg) rs200509898
NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys) rs1946416404
NM_031471.6(FERMT3):c.2T>G (p.Met1Arg)
NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser)
NM_031471.6(FERMT3):c.323G>A (p.Arg108His)
NM_031471.6(FERMT3):c.419C>T (p.Ser140Phe) rs1946424644
NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp) rs778799174
NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly)
NM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del) rs776324976
NM_031471.6(FERMT3):c.444G>C (p.Lys148Asn)
NM_031471.6(FERMT3):c.445G>A (p.Glu149Lys) rs1189533527
NM_031471.6(FERMT3):c.447GAA[3] (p.Lys153del) rs759155629
NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg)
NM_031471.6(FERMT3):c.479A>T (p.Glu160Val) rs2134843975
NM_031471.6(FERMT3):c.500T>C (p.Val167Ala) rs2134844071
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) rs1946427260
NM_031471.6(FERMT3):c.511G>A (p.Gly171Arg)
NM_031471.6(FERMT3):c.514+4A>G rs1591027554
NM_031471.6(FERMT3):c.521C>T (p.Ala174Val) rs2134845189
NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu) rs778967874
NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser)
NM_031471.6(FERMT3):c.560A>G (p.Asp187Gly) rs1946432873
NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu) rs150500299
NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro)
NM_031471.6(FERMT3):c.613C>A (p.Pro205Thr) rs2134845949
NM_031471.6(FERMT3):c.619C>G (p.Pro207Ala)
NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys) rs369072342
NM_031471.6(FERMT3):c.643C>T (p.Arg215Trp)
NM_031471.6(FERMT3):c.644G>T (p.Arg215Leu) rs542357552
NM_031471.6(FERMT3):c.683+5A>C rs1946435926
NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp)
NM_031471.6(FERMT3):c.706C>T (p.Leu236Phe) rs1946443415
NM_031471.6(FERMT3):c.719G>A (p.Gly240Asp) rs2134847767
NM_031471.6(FERMT3):c.724A>G (p.Lys242Glu) rs1408986056
NM_031471.6(FERMT3):c.728C>G (p.Ala243Gly) rs1402606308
NM_031471.6(FERMT3):c.730G>A (p.Gly244Arg)
NM_031471.6(FERMT3):c.737C>T (p.Ala246Val)
NM_031471.6(FERMT3):c.748C>T (p.Arg250Cys)
NM_031471.6(FERMT3):c.749G>A (p.Arg250His)
NM_031471.6(FERMT3):c.749G>T (p.Arg250Leu)
NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly) rs2134828037
NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg) rs1359134455
NM_031471.6(FERMT3):c.787-8C>A rs202116077
NM_031471.6(FERMT3):c.790G>C (p.Asp264His) rs1303226802
NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp) rs568602034
NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys) rs1294902127
NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr) rs1030764940
NM_031471.6(FERMT3):c.894+9C>T rs377003245
NM_031471.6(FERMT3):c.941C>T (p.Ala314Val) rs566565776
NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn)
NM_031471.6(FERMT3):c.967C>G (p.Leu323Val) rs1177180183
NM_031471.6(FERMT3):c.984C>A (p.Ser328Arg)
NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala) rs1591038431
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.*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.*921A>G rs886060085
NM_054027.6(ANKH):c.-87T>A rs886060204
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
NM_130837.3(OPA1):c.679-4G>T rs757018661
NM_152424.4(AMER1):c.1073G>A (p.Arg358Gln)
NM_152424.4(AMER1):c.1076G>C (p.Ser359Thr)
NM_152424.4(AMER1):c.1305C>G (p.Gly435=) rs761740157
NM_152424.4(AMER1):c.1460T>A (p.Leu487Gln)
NM_152424.4(AMER1):c.2048C>G (p.Ser683Ter) rs1930237390
NM_152424.4(AMER1):c.2363G>A (p.Cys788Tyr) rs1269339307
NM_152424.4(AMER1):c.2875C>A (p.Pro959Thr)
NM_152424.4(AMER1):c.3010T>C (p.Ser1004Pro)
NM_152424.4(AMER1):c.3266G>C (p.Arg1089Thr)
NM_152424.4(AMER1):c.3272G>A (p.Arg1091Gln)
NM_152424.4(AMER1):c.3286C>T (p.Gln1096Ter)
NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr) rs1930205301
NM_152424.4(AMER1):c.3369C>G (p.Ser1123Arg)
NM_152424.4(AMER1):c.50C>G (p.Ser17Cys)
NM_152424.4(AMER1):c.71C>T (p.Thr24Ile) rs1930297677
NM_207122.1(EXT2):c.-242G>T rs1953882206
NM_207122.2(EXT2):c.*368C>T rs886048279
NM_207122.2(EXT2):c.*672G>C rs1956079951
NM_207122.2(EXT2):c.*882G>T rs1956082516
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg) rs141035971
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met) rs1954415349
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe) rs747302075
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly) rs2135020999
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
NM_207122.2(EXT2):c.1117G>A (p.Val373Met) rs750547674
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg) rs1590575253
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu) rs1203844985
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr) rs2135127641
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) rs1279920600
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.1262A>G (p.Tyr421Cys)
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn) rs886048276
NM_207122.2(EXT2):c.1294C>T (p.Pro432Ser)
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys) rs775111831
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
NM_207122.2(EXT2):c.140C>A (p.Pro47His)
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1459GTC[1] (p.Val488del)
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg) rs2135185580
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
NM_207122.2(EXT2):c.1486C>G (p.Pro496Ala)
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys) rs1955587849
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
NM_207122.2(EXT2):c.1538G>A (p.Arg513Lys)
NM_207122.2(EXT2):c.1543G>T (p.Ala515Ser)
NM_207122.2(EXT2):c.1565G>A (p.Arg522His) rs1271452312
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
NM_207122.2(EXT2):c.1575T>A (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
NM_207122.2(EXT2):c.1591A>C (p.Thr531Pro)
NM_207122.2(EXT2):c.1600G>C (p.Val534Leu)
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp) rs1955590072
NM_207122.2(EXT2):c.1662+4A>C
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) rs768532662
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys) rs1564986609
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
NM_207122.2(EXT2):c.1802A>G (p.His601Arg) rs1590666587
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro) rs2135259942
NM_207122.2(EXT2):c.1806+3A>C
NM_207122.2(EXT2):c.1806+5G>C
NM_207122.2(EXT2):c.181C>T (p.Arg61Cys)
NM_207122.2(EXT2):c.1825A>G (p.Thr609Ala)
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg) rs2135263090
NM_207122.2(EXT2):c.1888G>C (p.Ala630Pro)
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp) rs1334534184
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
NM_207122.2(EXT2):c.1935+1G>T
NM_207122.2(EXT2):c.1935+3A>C
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
NM_207122.2(EXT2):c.1985G>T (p.Gly662Val)
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.2019-2A>G
NM_207122.2(EXT2):c.2019-2del
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) rs753223281
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu) rs1956070950
NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala) rs1389539812
NM_207122.2(EXT2):c.205G>A (p.Val69Ile) rs200809171
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu)
NM_207122.2(EXT2):c.2072T>A (p.Val691Glu)
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly) rs769426160
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
NM_207122.2(EXT2):c.2133C>G (p.Ser711Arg)
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr) rs999897934
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln) rs763536229
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796
NM_207122.2(EXT2):c.261G>A (p.Met87Ile) rs758194845
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)
NM_207122.2(EXT2):c.275A>G (p.Asp92Gly)
NM_207122.2(EXT2):c.278T>C (p.Val93Ala)
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu) rs907886635
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr) rs1321100355
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) rs886048274
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser)
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser) rs2134967559
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) rs1389288265
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala)
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)
NM_207122.2(EXT2):c.471C>A (p.Ile157=) rs747429885
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly) rs1954089321
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu)
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) rs1240693088
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del) rs761364688
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del) rs1954106603
NM_207122.2(EXT2):c.566T>C (p.Phe189Ser)
NM_207122.2(EXT2):c.571A>G (p.Met191Val) rs1324170921
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser) rs1954107822
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu) rs2134965342
NM_207122.2(EXT2):c.626+6A>T
NM_207122.2(EXT2):c.626+6_626+8del
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys)
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
NM_207122.2(EXT2):c.65A>G (p.His22Arg) rs1954077075
NM_207122.2(EXT2):c.665A>G (p.Tyr222Cys)
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
NM_207122.2(EXT2):c.679G>T (p.Asp227Tyr)
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
NM_207122.2(EXT2):c.69A>T (p.Arg23=) rs2134965405
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
NM_207122.2(EXT2):c.720G>A (p.Val240=)
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala)
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln) rs372237191
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg) rs372237191
NM_207122.2(EXT2):c.744-16T>G
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr)
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)
NM_207122.2(EXT2):c.761T>A (p.Leu254His)
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg) rs2135014787
NM_207122.2(EXT2):c.779G>T (p.Gly260Val) rs201895861
NM_207122.2(EXT2):c.785A>G (p.His262Arg) rs2135014871
NM_207122.2(EXT2):c.805C>T (p.Leu269=) rs773486418
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg)
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)
NM_207122.2(EXT2):c.886G>C (p.Val296Leu) rs1954377301
NM_207122.2(EXT2):c.887T>A (p.Val296Asp)
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly) rs1260423517
NM_207122.2(EXT2):c.922T>C (p.Tyr308His) rs2135015647
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu)
NM_207122.2(EXT2):c.931G>A (p.Val311Met) rs1449762239
NM_207122.2(EXT2):c.933G>A (p.Val311=)
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu) rs763718818
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr)
NM_207122.2(EXT2):c.955G>A (p.Val319Met)
NM_207122.2(EXT2):c.956T>C (p.Val319Ala)
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
NM_207122.2(EXT2):c.971C>T (p.Ala324Val)
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
NM_207122.2(EXT2):c.98T>A (p.Val33Asp)
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)

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