ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1231
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.-127C>G rs9533157 0.99807
NM_003701.4(TNFSF11):c.*264G>T rs346575 0.99437
NM_000067.2(CA2):c.-181A>T rs11261477 0.98543
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97643
NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=) rs8092336 0.95903
NM_000067.3(CA2):c.663+82A>C rs6605618 0.88940
NM_003839.4(TNFRSF11A):c.*2590A>C rs884205 0.81374
NM_003701.4(TNFSF11):c.387+14G>A rs2277439 0.80621
NM_001287.6(CLCN7):c.485-39A>C rs2072950 0.73095
NM_000067.3(CA2):c.562T>C (p.Leu188=) rs703 0.64073
NM_001287.6(CLCN7):c.285+52C>A rs2744994 0.60500
NM_001287.6(CLCN7):c.126T>C (p.Pro42=) rs3751884 0.59955
NM_001287.6(CLCN7):c.1884-35T>C rs12597739 0.53608
NM_001287.6(CLCN7):c.1170A>T (p.Ala390=) rs2235579 0.51407
NM_001287.6(CLCN7):c.981+133G>A rs7190701 0.48855
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) rs2296533 0.47237
NM_014028.4(OSTM1):c.*331A>G rs9320250 0.41485
NM_001287.6(CLCN7):c.2251-50G>A rs12599176 0.41216
NM_013322.3(SNX10):c.24+36T>A rs3801891 0.40832
NM_001287.6(CLCN7):c.1618-49G>A rs742408 0.36776
NM_003701.4(TNFSF11):c.*948G>T rs1054016 0.36610
NM_031471.6(FERMT3):c.787-10C>A rs11603538 0.33480
NM_014028.4(OSTM1):c.*1883T>C rs7662 0.33096
NM_014028.4(OSTM1):c.*2301A>G rs9386700 0.32980
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_014028.4(OSTM1):c.*1407A>G rs12567 0.24864
NM_014028.4(OSTM1):c.*1038A>G rs1064346 0.24805
NM_014028.4(OSTM1):c.*2362A>G rs201149316 0.22949
NM_001287.6(CLCN7):c.676-85G>A rs8061743 0.20005
NM_003839.4(TNFRSF11A):c.*1624G>C rs12455323 0.18364
NM_006019.4(TCIRG1):c.1020+152G>T rs72926459 0.18098
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) rs3802933 0.17484
NM_003839.4(TNFRSF11A):c.*2490A>G rs78459945 0.12123
NM_003839.4(TNFRSF11A):c.*2173A>T rs78326403 0.11998
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_031471.6(FERMT3):c.161-16C>G rs78038516 0.10980
NM_014028.4(OSTM1):c.*2283T>C rs112283202 0.09569
NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) rs3802932 0.09305
NM_014028.4(OSTM1):c.*2344C>G rs113263335 0.09290
NM_014028.4(OSTM1):c.*2329G>T rs112792700 0.08905
NM_003839.4(TNFRSF11A):c.*2537G>A rs72933641 0.07811
NM_003839.4(TNFRSF11A):c.*1810G>C rs72933640 0.07294
NM_014028.4(OSTM1):c.*2755A>G rs6921341 0.07269
NM_031471.6(FERMT3):c.729C>T (p.Ala243=) rs17851033 0.05878
NM_031471.6(FERMT3):c.895-4C>T rs59250939 0.05738
NM_014028.4(OSTM1):c.*2547G>A rs111332944 0.05196
NM_014028.4(OSTM1):c.*1161G>A rs17069228 0.04528
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_014028.4(OSTM1):c.*2887G>A rs41287526 0.03905
NM_014028.4(OSTM1):c.*2053C>T rs17069215 0.03750
NM_014028.4(OSTM1):c.*1352A>G rs9372179 0.03746
NM_014028.4(OSTM1):c.*1334T>C rs9374008 0.03745
NM_014028.4(OSTM1):c.*1574A>G rs41287528 0.03604
NM_014028.4(OSTM1):c.*1367G>A rs73504439 0.03564
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) rs80219951 0.03550
NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) rs9562415 0.03075
NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe) rs9480830 0.02937
NM_003701.4(TNFSF11):c.*48T>C rs7994018 0.02917
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_000067.3(CA2):c.*212A>G rs73263450 0.02796
NM_003701.4(TNFSF11):c.*383C>T rs9567000 0.02228
NM_014028.4(OSTM1):c.*3329A>G rs112424495 0.02226
NM_014028.4(OSTM1):c.*3319T>G rs112919802 0.02222
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) rs138818878 0.02149
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) rs141735624 0.01817
NM_003839.4(TNFRSF11A):c.*1913A>G rs12721435 0.01660
NM_014028.4(OSTM1):c.*212A>G rs17069239 0.01518
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_014028.4(OSTM1):c.*1427A>G rs116796449 0.01274
NM_014028.4(OSTM1):c.*1082G>A rs148730821 0.01114
NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His) rs35993683 0.01070
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) rs35589394 0.01059
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535 0.00938
NM_003701.4(TNFSF11):c.*704G>A rs34886516 0.00933
NM_031471.6(FERMT3):c.405C>T (p.His135=) rs78810429 0.00926
NM_003701.4(TNFSF11):c.*742G>A rs139327529 0.00897
NM_000067.3(CA2):c.*303C>T rs150089617 0.00878
NM_031471.6(FERMT3):c.1030-12G>C rs77762249 0.00871
NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) rs34151971 0.00843
NM_014028.4(OSTM1):c.*2138G>T rs115370044 0.00824
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_003839.4(TNFRSF11A):c.*1738C>T rs6567277 0.00718
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_014028.4(OSTM1):c.*355A>G rs61491262 0.00630
NM_003701.4(TNFSF11):c.*745T>C rs12721444 0.00615
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) rs149000560 0.00578
NM_006019.4(TCIRG1):c.*68G>A rs139720520 0.00538
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) rs150686744 0.00396
NM_031471.6(FERMT3):c.684-5C>G rs112945490 0.00390
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=) rs12721430 0.00322
NM_003701.4(TNFSF11):c.45G>A (p.Ser15=) rs200121871 0.00316
NM_003839.4(TNFRSF11A):c.*1368C>T rs12721434 0.00291
NM_003701.4(TNFSF11):c.-94C>T rs199818393 0.00278
NM_003839.4(TNFRSF11A):c.*2077G>T rs75853662 0.00278
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) rs200788562 0.00262
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660 0.00253
NM_031471.6(FERMT3):c.249C>T (p.Tyr83=) rs137865691 0.00245
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp) rs34945627 0.00239
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) rs189501562 0.00228
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) rs142815441 0.00225
NM_014028.4(OSTM1):c.615+8A>G rs144204437 0.00220
NM_003701.4(TNFSF11):c.-144G>C rs201859220 0.00188
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=) rs201501349 0.00188
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) rs142756983 0.00164
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_006019.4(TCIRG1):c.630+14G>A rs201531306 0.00161
NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) rs200250962 0.00151
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) rs113348354 0.00146
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_014028.4(OSTM1):c.*2366A>G rs564822548 0.00143
NM_031471.6(FERMT3):c.161-11G>A rs188768294 0.00143
NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro) rs138031026 0.00137
NM_003701.4(TNFSF11):c.*788T>C rs200189539 0.00135
NM_003839.4(TNFRSF11A):c.284-5C>T rs371545302 0.00130
NM_003701.4(TNFSF11):c.-81C>A rs200647526 0.00129
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00129
NM_006019.4(TCIRG1):c.412C>T (p.Pro138Ser) rs35354504 0.00118
NM_031471.6(FERMT3):c.921C>T (p.Ser307=) rs78713523 0.00116
NM_014028.4(OSTM1):c.495A>G (p.Thr165=) rs137974384 0.00110
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_000067.2(CA2):c.-138G>A rs557422827 0.00101
NM_003839.4(TNFRSF11A):c.*1060C>T rs572639953 0.00100
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=) rs377108710 0.00099
NM_006019.4(TCIRG1):c.1715C>T (p.Pro572Leu) rs115854062 0.00098
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg) rs75295961 0.00094
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_014028.4(OSTM1):c.*3060G>A rs563889052 0.00092
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_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00088
NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser) rs143873934 0.00086
NM_001287.6(CLCN7):c.141+19C>G rs547168471 0.00082
NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) rs117028614 0.00082
NM_003839.4(TNFRSF11A):c.*2564A>G rs555211772 0.00079
NM_031471.6(FERMT3):c.394+12G>A rs375841962 0.00076
NM_000067.3(CA2):c.*17G>A rs140653628 0.00074
NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn) rs201402594 0.00073
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00072
NM_006019.4(TCIRG1):c.611C>T (p.Pro204Leu) rs373711940 0.00071
NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu) rs886054082 0.00070
NM_006019.4(TCIRG1):c.1887+131G>A rs78820476 0.00069
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) rs202093691 0.00068
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_014028.4(OSTM1):c.*2317A>C rs527256747 0.00059
NM_006019.4(TCIRG1):c.1487C>T (p.Thr496Met) rs141474168 0.00058
NM_014028.4(OSTM1):c.*3192A>C rs185905869 0.00058
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_003839.4(TNFRSF11A):c.*1231A>G rs562667048 0.00055
NM_003839.4(TNFRSF11A):c.*447C>T rs571832589 0.00055
NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr) rs200176196 0.00054
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) rs201652399 0.00052
NM_006019.4(TCIRG1):c.274C>T (p.Arg92Trp) rs371907380 0.00052
NM_006019.4(TCIRG1):c.*67C>T rs570860062 0.00048
NM_014028.4(OSTM1):c.*168T>G rs571193624 0.00047
NM_003701.4(TNFSF11):c.-141C>T rs45468495 0.00046
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_013322.3(SNX10):c.212+4A>T rs183941048 0.00043
NM_014028.4(OSTM1):c.933A>G (p.Lys311=) rs146289365 0.00041
NM_031471.6(FERMT3):c.1546-6C>T rs200208378 0.00041
NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr) rs146932041 0.00041
NM_031471.6(FERMT3):c.515-5T>A rs371192713 0.00041
NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=) rs200900947 0.00040
NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu) rs118141250 0.00038
NM_003839.4(TNFRSF11A):c.*633C>A rs184568614 0.00037
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_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys) rs148619884 0.00035
NM_006019.4(TCIRG1):c.2162T>A (p.Ile721Asn) rs150260808 0.00035
NM_000067.3(CA2):c.139C>T (p.Leu47=) rs145096347 0.00034
NM_000067.3(CA2):c.549C>G (p.Leu183=) rs151021025 0.00034
NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln) rs150500299 0.00034
NM_031471.6(FERMT3):c.683+18G>A rs369707009 0.00033
NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=) rs138204772 0.00032
NM_014028.4(OSTM1):c.*2145A>T rs147517615 0.00031
NM_000067.3(CA2):c.462G>A (p.Pro154=) rs140623407 0.00029
NM_006019.4(TCIRG1):c.1097G>A (p.Arg366His) rs369983011 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_014028.4(OSTM1):c.49T>G (p.Trp17Gly) rs546399681 0.00028
NM_000067.3(CA2):c.*624T>C rs533282871 0.00027
NM_006019.4(TCIRG1):c.123C>T (p.Asn41=) rs147102889 0.00027
NM_006019.4(TCIRG1):c.1165+12G>A rs199554924 0.00026
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129 0.00026
NM_006019.4(TCIRG1):c.1464-10G>A rs370060039 0.00025
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_031471.6(FERMT3):c.938C>T (p.Pro313Leu) rs141200776 0.00025
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_003839.4(TNFRSF11A):c.402G>A (p.Ala134=) rs145242277 0.00023
NM_006019.4(TCIRG1):c.-53G>A rs554788440 0.00023
NM_031471.6(FERMT3):c.894+10G>A rs112542691 0.00023
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_031471.6(FERMT3):c.161-6C>T rs114338405 0.00022
NM_031471.6(FERMT3):c.320G>A (p.Arg107His) rs138704967 0.00022
NM_003839.4(TNFRSF11A):c.*705G>A rs886054096 0.00021
NM_014028.4(OSTM1):c.*1085T>G rs543280303 0.00021
NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln) rs201661352 0.00020
NM_031471.6(FERMT3):c.1080-5C>T rs143722885 0.00020
NM_003839.4(TNFRSF11A):c.*440C>T rs952341053 0.00019
NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser) rs762733251 0.00019
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006019.4(TCIRG1):c.1743C>T (p.Phe581=) rs148391697 0.00019
NM_031471.6(FERMT3):c.1430G>A (p.Arg477His) rs199749996 0.00019
NM_031471.6(FERMT3):c.303C>T (p.Ile101=) rs375277199 0.00019
NM_014028.4(OSTM1):c.*1166A>G rs557667717 0.00018
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_031471.6(FERMT3):c.161-12C>T rs372152105 0.00017
NM_006019.4(TCIRG1):c.2414+7G>A rs200879286 0.00016
NM_006019.4(TCIRG1):c.82C>T (p.Arg28Trp) rs139397145 0.00016
NM_014028.4(OSTM1):c.*2035A>G rs548119179 0.00016
NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys) rs373999037 0.00016
NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys) rs373315115 0.00016
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_006019.4(TCIRG1):c.942G>A (p.Thr314=) rs764846667 0.00015
NM_014028.4(OSTM1):c.198A>G (p.Gly66=) rs565610194 0.00015
NM_031471.6(FERMT3):c.635G>A (p.Arg212His) rs200467635 0.00015
NM_006019.4(TCIRG1):c.118-6C>T rs375317575 0.00014
NM_014028.4(OSTM1):c.300G>T (p.Gly100=) rs199570880 0.00014
NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser) rs150164798 0.00014
NM_031471.6(FERMT3):c.1251C>T (p.Cys417=) rs374519761 0.00014
NM_003701.4(TNFSF11):c.*159G>A rs186999111 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.1400A>G (p.Gln467Arg) rs758346041 0.00013
NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn) rs201257852 0.00013
NM_031471.6(FERMT3):c.885C>T (p.Ala295=) rs374379186 0.00013
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00013
NM_003839.4(TNFRSF11A):c.*1908T>G rs993985244 0.00012
NM_014028.4(OSTM1):c.*2195T>G rs924418376 0.00012
NM_000067.3(CA2):c.534C>T (p.Phe178=) rs17850824 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_003839.4(TNFRSF11A):c.1567+7G>A rs35332936 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_001287.6(CLCN7):c.2073+4C>T rs768190489 0.00010
NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=) rs147119709 0.00010
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val) rs144775787 0.00010
NM_031471.6(FERMT3):c.1221C>T (p.Pro407=) rs370181430 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_000067.3(CA2):c.541C>T (p.Arg181Cys) rs377003627 0.00009
NM_000067.3(CA2):c.677G>A (p.Arg226His) rs201928238 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_014028.4(OSTM1):c.*751C>T rs925420631 0.00009
NM_031471.6(FERMT3):c.1029+14C>T rs201218236 0.00009
NM_031471.6(FERMT3):c.1647C>T (p.Phe549=) rs370038112 0.00009
NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) rs1430138108 0.00009
NM_031471.6(FERMT3):c.786+10G>T rs371382691 0.00009
NM_031471.6(FERMT3):c.786+7C>T rs373211697 0.00009
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) rs144256756 0.00009
NM_000067.3(CA2):c.*173T>C rs1041356270 0.00008
NM_003701.4(TNFSF11):c.*158C>T rs200754328 0.00008
NM_003839.4(TNFRSF11A):c.731-11G>A rs372772575 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_014028.4(OSTM1):c.*953C>T rs886060968 0.00008
NM_000067.3(CA2):c.607C>A (p.Leu203Met) rs548376992 0.00007
NM_000067.3(CA2):c.618G>A (p.Val206=) rs369700367 0.00007
NM_000067.3(CA2):c.709G>A (p.Glu237Lys) rs143666045 0.00007
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) rs541169535 0.00007
NM_003839.4(TNFRSF11A):c.*322C>A rs372420868 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.1213G>A (p.Gly405Arg) rs137853150 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_031471.6(FERMT3):c.1014G>A (p.Ala338=) rs774290819 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_031471.6(FERMT3):c.787-7G>A rs778795486 0.00007
NM_000067.3(CA2):c.444+18T>G rs544980486 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_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.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006019.4(TCIRG1):c.1629C>T (p.Val543=) rs367732638 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_006019.4(TCIRG1):c.307C>T (p.Arg103Cys) rs771198568 0.00006
NM_006019.4(TCIRG1):c.851G>A (p.Arg284Gln) rs146244480 0.00006
NM_031471.6(FERMT3):c.1205-16C>T rs537958912 0.00006
NM_031471.6(FERMT3):c.1434G>A (p.Thr478=) rs368102589 0.00006
NM_031471.6(FERMT3):c.1464C>T (p.His488=) rs200660798 0.00006
NM_031471.6(FERMT3):c.1545+12C>T rs748289124 0.00006
NM_031471.6(FERMT3):c.1545+13G>A rs536991493 0.00006
NM_031471.6(FERMT3):c.1546-12A>G rs766045189 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_031471.6(FERMT3):c.315C>G (p.Pro105=) rs367568281 0.00006
NM_031471.6(FERMT3):c.642A>G (p.Pro214=) rs375528370 0.00006
NM_031471.6(FERMT3):c.93G>A (p.Ser31=) rs753418361 0.00006
NM_031471.6(FERMT3):c.963C>T (p.Asp321=) rs370133642 0.00006
NM_000067.3(CA2):c.649G>A (p.Val217Ile) rs539558180 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_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_014028.4(OSTM1):c.*1634A>G rs886060964 0.00005
NM_014028.4(OSTM1):c.-67G>T rs532210400 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.1884C>T (p.His628=) rs747261674 0.00005
NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr) rs765368032 0.00005
NM_031471.6(FERMT3):c.432T>G (p.Ala144=) rs752383968 0.00005
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_003839.4(TNFRSF11A):c.*1185C>T rs529021055 0.00004
NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met) rs376096275 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.1146C>A (p.Arg382=) rs753324402 0.00004
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 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.2236+1G>A rs1475338876 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_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_031471.6(FERMT3):c.120G>A (p.Ser40=) rs770220477 0.00004
NM_031471.6(FERMT3):c.126C>T (p.Ile42=) rs145854519 0.00004
NM_031471.6(FERMT3):c.129C>T (p.Gly43=) rs772711731 0.00004
NM_031471.6(FERMT3):c.1312-6G>A rs751923843 0.00004
NM_031471.6(FERMT3):c.1312-7C>T rs368719526 0.00004
NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser) rs373722020 0.00004
NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala) rs142686129 0.00004
NM_031471.6(FERMT3):c.1503C>T (p.Gly501=) rs368698573 0.00004
NM_031471.6(FERMT3):c.160+10C>T rs577691940 0.00004
NM_031471.6(FERMT3):c.1671-14T>C rs201170855 0.00004
NM_031471.6(FERMT3):c.1722G>C (p.Leu574=) rs769738360 0.00004
NM_031471.6(FERMT3):c.483C>T (p.Leu161=) rs781259522 0.00004
NM_031471.6(FERMT3):c.735C>T (p.Asp245=) rs376170241 0.00004
NM_031471.6(FERMT3):c.795C>T (p.Pro265=) rs578201604 0.00004
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073 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_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.1554+2T>A rs761918801 0.00003
NM_006019.4(TCIRG1):c.1843C>A (p.Leu615Ile) rs753897523 0.00003
NM_006019.4(TCIRG1):c.2118+10G>A rs775491643 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_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_014028.4(OSTM1):c.325G>A (p.Val109Met) rs1456427265 0.00003
NM_031471.6(FERMT3):c.1080-17C>T rs374311779 0.00003
NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) rs779562122 0.00003
NM_031471.6(FERMT3):c.1312-2A>C rs760261349 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.1821C>T (p.Ile607=) rs779453227 0.00003
NM_031471.6(FERMT3):c.1983G>A (p.Glu661=) rs774698514 0.00003
NM_031471.6(FERMT3):c.324C>T (p.Arg108=) rs755053623 0.00003
NM_031471.6(FERMT3):c.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_031471.6(FERMT3):c.684-8C>T rs775337789 0.00003
NM_000067.3(CA2):c.-53G>T rs886063148 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_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.1555-2A>C rs758977199 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_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_031471.6(FERMT3):c.1269C>A (p.Pro423=) rs760064066 0.00002
NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) rs142543888 0.00002
NM_031471.6(FERMT3):c.1546-5C>T rs368775495 0.00002
NM_031471.6(FERMT3):c.1584C>T (p.Ala528=) rs371831924 0.00002
NM_031471.6(FERMT3):c.1749C>T (p.Asp583=) rs112045200 0.00002
NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln) rs751183978 0.00002
NM_031471.6(FERMT3):c.1813-13G>A rs372936910 0.00002
NM_031471.6(FERMT3):c.1916C>T (p.Thr639Met) rs765844365 0.00002
NM_031471.6(FERMT3):c.264C>T (p.Asp88=) rs759003628 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.421C>T (p.Leu141=) rs768084793 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.683+17C>G rs765943402 0.00002
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) rs776202905 0.00002
NM_031471.6(FERMT3):c.75G>A (p.Glu25=) rs139520045 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.319C>T (p.His107Tyr) rs118203933 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.453C>T (p.Ser151=) rs189189209 0.00001
NM_000067.3(CA2):c.508-1G>C rs1444065478 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_001287.6(CLCN7):c.1561G>A (p.Gly521Arg) rs368190250 0.00001
NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp) rs2038701489 0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_001287.6(CLCN7):c.739-18G>A rs371893553 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.851G>A (p.Arg284Gln) rs61761332 0.00001
NM_003701.4(TNFSF11):c.92A>T (p.His31Leu) rs1471498841 0.00001
NM_003839.4(TNFRSF11A):c.*2086G>A rs528958493 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_006019.4(TCIRG1):c.*34G>A rs772507621 0.00001
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.1021-1G>T rs1590807544 0.00001
NM_006019.4(TCIRG1):c.1080A>G (p.Thr360=) rs767700786 0.00001
NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His) rs755474518 0.00001
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984 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.1674G>A (p.Val558=) rs745971874 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.196+5G>A rs1470999303 0.00001
NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His) rs763065648 0.00001
NM_006019.4(TCIRG1):c.2014-1G>A rs1197237618 0.00001
NM_006019.4(TCIRG1):c.2049C>T (p.Asp683=) rs780969471 0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter) rs1590817956 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.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.381C>T (p.Leu127=) rs1266423367 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.630G>A (p.Thr210=) rs1293760338 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.787C>T (p.Gln263Ter) rs1003722483 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_013322.3(SNX10):c.151C>T (p.Arg51Ter) rs1353879401 0.00001
NM_013322.3(SNX10):c.152G>A (p.Arg51Gln) rs398123011 0.00001
NM_013322.3(SNX10):c.284G>A (p.Arg95His) rs897553060 0.00001
NM_013322.3(SNX10):c.46C>T (p.Arg16Ter) rs587777490 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.960C>G (p.Leu320=) rs201793834 0.00001
NM_031471.6(FERMT3):c.1013C>T (p.Ala338Val) rs1006026359 0.00001
NM_031471.6(FERMT3):c.1029+18G>A rs768788260 0.00001
NM_031471.6(FERMT3):c.1029+19C>G rs986189621 0.00001
NM_031471.6(FERMT3):c.1030-9C>G rs368225468 0.00001
NM_031471.6(FERMT3):c.1047C>A (p.Ile349=) rs779076021 0.00001
NM_031471.6(FERMT3):c.1079+8G>T rs568273430 0.00001
NM_031471.6(FERMT3):c.1080-4G>A rs764978388 0.00001
NM_031471.6(FERMT3):c.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.1236C>T (p.Ser412=) rs187514956 0.00001
NM_031471.6(FERMT3):c.1239C>T (p.Gly413=) rs748029046 0.00001
NM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys) rs772177008 0.00001
NM_031471.6(FERMT3):c.1260C>T (p.Leu420=) rs779788201 0.00001
NM_031471.6(FERMT3):c.1275del (p.Glu426fs) rs775138431 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.1374C>T (p.Ala458=) rs762230079 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.144G>T (p.Lys48Asn) rs369062120 0.00001
NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile) rs769458086 0.00001
NM_031471.6(FERMT3):c.1527A>C (p.Arg509=) rs755898664 0.00001
NM_031471.6(FERMT3):c.160+11G>A rs1017427707 0.00001
NM_031471.6(FERMT3):c.1609C>T (p.Leu537=) rs772807042 0.00001
NM_031471.6(FERMT3):c.161-5C>T rs369340432 0.00001
NM_031471.6(FERMT3):c.1635C>G (p.Ser545=) rs765423929 0.00001
NM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn) rs763268722 0.00001
NM_031471.6(FERMT3):c.1707C>T (p.Ile569=) rs746482825 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys) rs775250461 0.00001
NM_031471.6(FERMT3):c.1731C>T (p.Ile577=) rs184609471 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.1842T>C (p.Asn614=) rs754873524 0.00001
NM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter) rs375257104 0.00001
NM_031471.6(FERMT3):c.1896G>A (p.Gly632=) rs1307248777 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.369T>C (p.Ala123=) rs1165361379 0.00001
NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg) rs1433083830 0.00001
NM_031471.6(FERMT3):c.395-10C>T rs1259281702 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.42G>A (p.Ser14=) rs1179556498 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.660A>G (p.Ser220=) rs1456049623 0.00001
NM_031471.6(FERMT3):c.683+20C>T rs1565290775 0.00001
NM_031471.6(FERMT3):c.698C>T (p.Ser233Leu) rs140948450 0.00001
NM_031471.6(FERMT3):c.6G>A (p.Ala2=) rs767213325 0.00001
NM_031471.6(FERMT3):c.708C>T (p.Leu236=) rs749769689 0.00001
NM_031471.6(FERMT3):c.772G>A (p.Asp258Asn) rs139416960 0.00001
NM_031471.6(FERMT3):c.786+8G>A rs376909061 0.00001
NM_031471.6(FERMT3):c.787-12C>T rs1251257822 0.00001
NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln) rs777040462 0.00001
NM_031471.6(FERMT3):c.889C>T (p.Leu297=) rs753533257 0.00001
NM_031471.6(FERMT3):c.894+16G>A rs747695131 0.00001
NM_031471.6(FERMT3):c.901A>G (p.Ile301Val) rs906322276 0.00001
NM_031471.6(FERMT3):c.902T>C (p.Ile301Thr) rs1376001840 0.00001
NM_031471.6(FERMT3):c.939G>A (p.Pro313=) rs1239621595 0.00001
NC_000007.14:g.26263639_26335651delinsCA
NC_000011.9:g.(?_58916346)_(64972349_?)dup
NC_000011.9:g.(?_63974837)_(63990964_?)dup
NC_000018.10:g.60033942_60033993del rs2144716942
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.120T>G (p.Tyr40Ter) rs118203934
NM_000067.3(CA2):c.143_146del (p.Ser48fs) rs1564077060
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter) rs1554709677
NM_000067.3(CA2):c.232+1G>A rs573750741
NM_000067.3(CA2):c.275A>C (p.Gln92Pro) rs1304160279
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.579C>G (p.Tyr193Ter) rs1203921376
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)
NM_000067.3(CA2):c.621del (p.Trp208fs)
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_000067.3(CA2):c.74G>A (p.Gly25Glu) rs1811610973
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys) rs2142378398
NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met) rs1410701535
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.1304C>T (p.Ser435Leu)
NM_001287.6(CLCN7):c.1448-2A>G
NM_001287.6(CLCN7):c.1448-43dup rs61073146
NM_001287.6(CLCN7):c.1617+119G>A rs922106856
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)
NM_001287.6(CLCN7):c.1638del (p.Lys546fs) rs2142368980
NM_001287.6(CLCN7):c.1663C>T (p.Gln555Ter) rs121434432
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln) rs757788894
NM_001287.6(CLCN7):c.1714del (p.Glu572fs)
NM_001287.6(CLCN7):c.1797+4C>T rs200682842
NM_001287.6(CLCN7):c.2250+1G>T rs1567263375
NM_001287.6(CLCN7):c.2285G>A (p.Arg762Gln) rs121434433
NM_001287.6(CLCN7):c.2297T>C (p.Leu766Pro) rs121434434
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) rs121434435
NM_001287.6(CLCN7):c.2332G>T (p.Val778Phe) rs1172932679
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs) rs2142364275
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) rs387907576
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)
NM_001287.6(CLCN7):c.676-86C>G rs8060503
NM_001287.6(CLCN7):c.781A>T (p.Ile261Phe) rs121434436
NM_001287.6(CLCN7):c.839G>A (p.Arg280His) rs1163577336
NM_001287.6(CLCN7):c.892dup (p.Ser298fs)
NM_001287.6(CLCN7):c.913G>A (p.Val305Met) rs558354107
NM_001351059.2(TCIRG1):c.-262_-237del rs2134438856
NM_003040.4(SLC4A2):c.1658T>C (p.Val553Ala)
NM_003040.4(SLC4A2):c.556G>A (p.Ala186Thr)
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.2T>G (p.Met1Arg) rs201199211
NM_003701.4(TNFSF11):c.424G>A (p.Ala142Thr) rs199529587
NM_003701.4(TNFSF11):c.433+13C>G rs1869132236
NM_003701.4(TNFSF11):c.532+4_532+8del rs2137905441
NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) rs121909072
NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) rs770524066
NM_003701.4(TNFSF11):c.667C>T (p.Arg223Ter) rs267603829
NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) rs863223288
NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) rs760748407
NM_003701.4(TNFSF11):c.929del (p.Ala310fs) rs2137916719
NM_003839.4(TNFRSF11A):c.*1178T>C rs1338926671
NM_003839.4(TNFRSF11A):c.*1211C>G rs1233818667
NM_003839.4(TNFRSF11A):c.*1269G>C rs115023470
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.*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.*633C>G rs184568614
NM_003839.4(TNFRSF11A):c.*634C>G rs7232657
NM_003839.4(TNFRSF11A):c.*751C>T rs886054097
NM_003839.4(TNFRSF11A):c.*811T>C rs886054098
NM_003839.4(TNFRSF11A):c.*938T>C rs565315471
NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn) rs2145289462
NM_003839.4(TNFRSF11A):c.1530dup (p.Ser511fs) rs2145357936
NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=) rs1910368771
NM_003839.4(TNFRSF11A):c.157G>C (p.Gly53Arg) rs121908659
NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro) rs1911609900
NM_003839.4(TNFRSF11A):c.239G>A (p.Trp80Ter)
NM_003839.4(TNFRSF11A):c.240G>T (p.Trp80Cys)
NM_003839.4(TNFRSF11A):c.284-4G>A rs761709562
NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)
NM_003839.4(TNFRSF11A):c.380G>A (p.Cys127Tyr) rs2145309285
NM_003839.4(TNFRSF11A):c.385C>T (p.Arg129Cys) rs121908657
NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys) rs867372893
NM_003839.4(TNFRSF11A):c.443A>T (p.Asp148Val)
NM_003839.4(TNFRSF11A):c.508A>G (p.Arg170Gly) rs121908655
NM_003839.4(TNFRSF11A):c.523T>C (p.Cys175Arg) rs121908656
NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg) rs886054084
NM_003839.4(TNFRSF11A):c.54C>A (p.Cys18Ter)
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.730G>T (p.Ala244Ser) rs121908658
NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser) rs1249788220
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.1019C>A (p.Ser340Ter)
NM_006019.4(TCIRG1):c.1020+1G>T
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) rs1159666762
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
NM_006019.4(TCIRG1):c.1073C>T (p.Pro358Leu) rs2134445007
NM_006019.4(TCIRG1):c.1080_1081del (p.Leu361fs)
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.1114C>T (p.Gln372Ter) rs776436008
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) rs1269558164
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.1128del (p.Asp376fs)
NM_006019.4(TCIRG1):c.1153G>A (p.Glu385Lys) rs2134445416
NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs)
NM_006019.4(TCIRG1):c.1165+1G>C rs780745598
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.117+5G>A rs2134430922
NM_006019.4(TCIRG1):c.1211del (p.Phe404fs)
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs) rs2134454279
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1306-1G>A rs1554997884
NM_006019.4(TCIRG1):c.1306-2A>T rs1855570841
NM_006019.4(TCIRG1):c.1306-2dup rs1554997880
NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg) rs2134455141
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs) rs747511049
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg) rs1348842114
NM_006019.4(TCIRG1):c.1378del (p.Ile460fs)
NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del) rs771271907
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs) rs1554997997
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter) rs137853149
NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=) rs570336313
NM_006019.4(TCIRG1):c.1419del (p.Ser474fs)
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu) rs199914625
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs) rs1554998061
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs) rs2134455711
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
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.1536C>A (p.Tyr512Ter)
NM_006019.4(TCIRG1):c.1554+1G>A
NM_006019.4(TCIRG1):c.1554+1G>T rs1439348400
NM_006019.4(TCIRG1):c.1555-12C>T rs886048598
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter) rs1057517365
NM_006019.4(TCIRG1):c.1567del (p.Ala523fs)
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.1664_1667dup (p.His557fs)
NM_006019.4(TCIRG1):c.1673+2T>C
NM_006019.4(TCIRG1):c.1674-1G>C
NM_006019.4(TCIRG1):c.1674-9del rs1855654196
NM_006019.4(TCIRG1):c.1680T>C (p.Phe560=) rs1855655326
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.16del (p.Arg6fs)
NM_006019.4(TCIRG1):c.170G>T (p.Arg57Leu) rs150648332
NM_006019.4(TCIRG1):c.1722del (p.Thr575fs)
NM_006019.4(TCIRG1):c.172T>C (p.Cys58Arg) rs1855184602
NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)
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.1812del (p.Ser605fs)
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.1884del (p.Gln629fs)
NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter) rs895239701
NM_006019.4(TCIRG1):c.1887+130C>T rs928213157
NM_006019.4(TCIRG1):c.1887+175A>G rs2075609
NM_006019.4(TCIRG1):c.1887+1G>A
NM_006019.4(TCIRG1):c.1887+1G>C rs1554999205
NM_006019.4(TCIRG1):c.1887+3G>C
NM_006019.4(TCIRG1):c.1888-1G>T rs2134462513
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs) rs1554999516
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del) rs1554999539
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.1967del (p.Leu656fs)
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.1978del (p.Arg660fs) rs2134462969
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.1996A>C (p.Arg666=) rs767714758
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) rs1554995009
NM_006019.4(TCIRG1):c.2088dup (p.Gly697fs)
NM_006019.4(TCIRG1):c.2106A>G (p.Glu702=) rs771368616
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro) rs1279951928
NM_006019.4(TCIRG1):c.2196del (p.Ser733fs)
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs) rs1565164499
NM_006019.4(TCIRG1):c.2236+1G>C rs1475338876
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
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.2321del (p.Val774fs)
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)
NM_006019.4(TCIRG1):c.2329_2387dup (p.Ala796_Phe797insLeuProProLeuProTer)
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs) rs1346704603
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.2414+1G>T
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-1G>C rs1590819770
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.2415-2_2418delinsGGGTT
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
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.2450dup (p.Tyr818fs) rs1590819834
NM_006019.4(TCIRG1):c.245del (p.Pro82fs)
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.304del (p.Glu102fs)
NM_006019.4(TCIRG1):c.308G>C (p.Arg103Pro) rs775326246
NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter) rs903939170
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_006019.4(TCIRG1):c.390del (p.Val131fs)
NM_006019.4(TCIRG1):c.418-1G>C
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)
NM_006019.4(TCIRG1):c.455_457delinsGG (p.Thr152fs)
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter) rs1554995330
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs) rs1554995350
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter) rs1385741705
NM_006019.4(TCIRG1):c.503+1G>A rs1554995381
NM_006019.4(TCIRG1):c.503+5G>A
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_006019.4(TCIRG1):c.507_513del (p.Phe169fs)
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter) rs2134437954
NM_006019.4(TCIRG1):c.553del (p.Leu185fs) rs1855280375
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs) rs1554995522
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.630+1G>T rs1554995582
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
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.674del (p.Gly225fs) rs1590804397
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter) rs1156299579
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs) rs1554995706
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)
NM_006019.4(TCIRG1):c.713+1G>C rs774308815
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter)
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)
NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del) rs1554995833
NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs)
NM_006019.4(TCIRG1):c.766del (p.Ala256fs)
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)
NM_006019.4(TCIRG1):c.797del (p.Glu266fs) rs1431956318
NM_006019.4(TCIRG1):c.807+18_807+54del rs1192256631
NM_006019.4(TCIRG1):c.807+1G>A
NM_006019.4(TCIRG1):c.807+1G>T rs1458295257
NM_006019.4(TCIRG1):c.807+2T>G rs2134440422
NM_006019.4(TCIRG1):c.807+8_807+31del rs1554995901
NM_006019.4(TCIRG1):c.808-2A>C
NM_006019.4(TCIRG1):c.824_825del (p.Glu275fs) rs1182235762
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs) rs1855343916
NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)
NM_006019.4(TCIRG1):c.907dup (p.Tyr303fs) rs1855347940
NM_006019.4(TCIRG1):c.922del (p.Gln308fs) rs1554996130
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.968G>A (p.Trp323Ter)
NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter) rs2134442342
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743
NM_006019.4(TCIRG1):c.979C>A (p.Arg327=) rs749361897
NM_013322.3(SNX10):c.302del (p.Phe101fs)
NM_014028.4(OSTM1):c.*1007G>A rs1053299538
NM_014028.4(OSTM1):c.*2276C>A rs546976371
NM_014028.4(OSTM1):c.*2276C>T rs546976371
NM_014028.4(OSTM1):c.*2364A>G rs60621815
NM_014028.4(OSTM1):c.*2487T>A rs981097901
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.36T>A (p.Cys12Ter) rs119460973
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) rs794727287
NM_014028.4(OSTM1):c.486del (p.Phe162fs) rs1582396088
NM_014028.4(OSTM1):c.783+5G>T rs1554250938
NM_014028.4(OSTM1):c.784-10C>G rs753191662
NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) rs781715787
NM_014028.4(OSTM1):c.949+5G>A rs1562370077
NM_014028.4(OSTM1):c.950-12T>C rs886060972
NM_014798.3(PLEKHM1):c.217_239del (p.Gly73fs)
NM_014798.3(PLEKHM1):c.296+1G>A rs786205055
NM_031471.6(FERMT3):c.100C>T (p.Leu34=)
NM_031471.6(FERMT3):c.1011G>A (p.Ser337=)
NM_031471.6(FERMT3):c.1029+11G>C
NM_031471.6(FERMT3):c.1029+20A>G
NM_031471.6(FERMT3):c.1029+2T>C rs1591038507
NM_031471.6(FERMT3):c.1029+6G>T
NM_031471.6(FERMT3):c.1030-12G>A
NM_031471.6(FERMT3):c.1030-16T>G
NM_031471.6(FERMT3):c.1030-20T>C rs2134881481
NM_031471.6(FERMT3):c.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.1050A>G (p.Pro350=) rs2134881613
NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln)
NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu)
NM_031471.6(FERMT3):c.1079+10G>T
NM_031471.6(FERMT3):c.107T>C (p.Val36Ala)
NM_031471.6(FERMT3):c.1080-12C>T
NM_031471.6(FERMT3):c.1080-15C>T rs2134882329
NM_031471.6(FERMT3):c.1080-16C>G
NM_031471.6(FERMT3):c.1080-18C>A
NM_031471.6(FERMT3):c.1095C>T (p.Thr365=) rs2134882623
NM_031471.6(FERMT3):c.1104C>G (p.Gly368=) rs2134882687
NM_031471.6(FERMT3):c.111T>C (p.Thr37=)
NM_031471.6(FERMT3):c.1128C>T (p.Phe376=)
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.1164C>T (p.Asp388=)
NM_031471.6(FERMT3):c.1170C>G (p.Ala390=)
NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg)
NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe) rs780759663
NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr)
NM_031471.6(FERMT3):c.1205-3C>T
NM_031471.6(FERMT3):c.1205-7C>T rs2134884288
NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn)
NM_031471.6(FERMT3):c.1230C>T (p.Asn410=)
NM_031471.6(FERMT3):c.124A>G (p.Ile42Val)
NM_031471.6(FERMT3):c.1311+10G>A
NM_031471.6(FERMT3):c.1311+11dup
NM_031471.6(FERMT3):c.1311+13_1311+29del
NM_031471.6(FERMT3):c.1311+6T>G
NM_031471.6(FERMT3):c.1311+9G>A rs111309375
NM_031471.6(FERMT3):c.1312-11del
NM_031471.6(FERMT3):c.1312-13C>T
NM_031471.6(FERMT3):c.1312-18C>T
NM_031471.6(FERMT3):c.1314G>A (p.Glu438=) rs2134885222
NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly)
NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser)
NM_031471.6(FERMT3):c.1362C>G (p.Gly454=) rs2134885437
NM_031471.6(FERMT3):c.1374C>G (p.Ala458=) rs762230079
NM_031471.6(FERMT3):c.1389C>T (p.Thr463=) rs753535248
NM_031471.6(FERMT3):c.138C>G (p.Leu46=) rs765072715
NM_031471.6(FERMT3):c.1392C>T (p.Ser464=)
NM_031471.6(FERMT3):c.1408C>T (p.Leu470=) rs751370857
NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) rs1946338724
NM_031471.6(FERMT3):c.1443G>C (p.Gly481=)
NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg)
NM_031471.6(FERMT3):c.144G>A (p.Lys48=) rs369062120
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.1512C>T (p.Ala504=)
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.1525C>T (p.Arg509Ter) rs121918295
NM_031471.6(FERMT3):c.1545+10G>A rs1591040541
NM_031471.6(FERMT3):c.1545+14T>C
NM_031471.6(FERMT3):c.1545+17G>C
NM_031471.6(FERMT3):c.1548C>A (p.Leu516=) rs777931977
NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg)
NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp)
NM_031471.6(FERMT3):c.1578T>C (p.Asn526=) rs1288349776
NM_031471.6(FERMT3):c.1593G>A (p.Ser531=)
NM_031471.6(FERMT3):c.1593G>T (p.Ser531=)
NM_031471.6(FERMT3):c.1596G>A (p.Leu532=)
NM_031471.6(FERMT3):c.160+17C>G rs1009780479
NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)
NM_031471.6(FERMT3):c.161-16C>T
NM_031471.6(FERMT3):c.161-20T>C
NM_031471.6(FERMT3):c.161-2A>C rs1286499329
NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys)
NM_031471.6(FERMT3):c.1613G>A (p.Arg538His) rs1205153436
NM_031471.6(FERMT3):c.1620C>T (p.Ile540=)
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.1650C>T (p.Gly550=) rs957232636
NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs) rs1591041141
NM_031471.6(FERMT3):c.1670+10C>T rs2134888721
NM_031471.6(FERMT3):c.1670+19C>A
NM_031471.6(FERMT3):c.1671-15C>G rs78324705
NM_031471.6(FERMT3):c.1671-18T>A
NM_031471.6(FERMT3):c.1671-19C>G
NM_031471.6(FERMT3):c.1671-2A>G rs2134903776
NM_031471.6(FERMT3):c.1671-4_1671del
NM_031471.6(FERMT3):c.1686G>A (p.Arg562=)
NM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg) rs754239815
NM_031471.6(FERMT3):c.1701G>A (p.Leu567=)
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.1725C>A (p.Ile575=)
NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn)
NM_031471.6(FERMT3):c.1740C>T (p.Ala580=)
NM_031471.6(FERMT3):c.1743G>T (p.Val581=) rs1565299087
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.1812+12C>T rs1282201698
NM_031471.6(FERMT3):c.1812+13C>A
NM_031471.6(FERMT3):c.1812+18G>A rs756907795
NM_031471.6(FERMT3):c.1812+8C>T
NM_031471.6(FERMT3):c.1813-15_1813-14del rs528684268
NM_031471.6(FERMT3):c.1813-17C>T rs1419820066
NM_031471.6(FERMT3):c.1813G>A (p.Val605Met)
NM_031471.6(FERMT3):c.1839C>T (p.Ile613=)
NM_031471.6(FERMT3):c.1857C>T (p.Cys619=)
NM_031471.6(FERMT3):c.1866C>T (p.Ala622=) rs772395750
NM_031471.6(FERMT3):c.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.18A>G (p.Thr6=)
NM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn) rs2134906387
NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr)
NM_031471.6(FERMT3):c.1908C>T (p.Phe636=)
NM_031471.6(FERMT3):c.1911G>A (p.Leu637=)
NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter)
NM_031471.6(FERMT3):c.1914G>A (p.Ser638=)
NM_031471.6(FERMT3):c.1914G>C (p.Ser638=) rs192928228
NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly)
NM_031471.6(FERMT3):c.1918C>A (p.Arg640=)
NM_031471.6(FERMT3):c.1926G>C (p.Arg642=)
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.1977C>T (p.Gly659=)
NM_031471.6(FERMT3):c.1979A>G (p.His660Arg)
NM_031471.6(FERMT3):c.213G>C (p.Gln71His)
NM_031471.6(FERMT3):c.219G>A (p.Leu73=) rs2134841789
NM_031471.6(FERMT3):c.228C>T (p.Thr76=)
NM_031471.6(FERMT3):c.24C>T (p.Ser8=) rs1258498079
NM_031471.6(FERMT3):c.258G>A (p.Leu86=)
NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg) rs200509898
NM_031471.6(FERMT3):c.273C>T (p.Leu91=)
NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys) rs1946416404
NM_031471.6(FERMT3):c.27G>T (p.Gly9=) rs147987989
NM_031471.6(FERMT3):c.294G>A (p.Arg98=)
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.351C>G (p.Ser117=)
NM_031471.6(FERMT3):c.357C>T (p.Pro119=)
NM_031471.6(FERMT3):c.36C>T (p.Ile12=)
NM_031471.6(FERMT3):c.394+11C>T
NM_031471.6(FERMT3):c.394+19T>G
NM_031471.6(FERMT3):c.419C>T (p.Ser140Phe) rs1946424644
NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp) rs778799174
NM_031471.6(FERMT3):c.420C>T (p.Ser140=)
NM_031471.6(FERMT3):c.429G>C (p.Arg143=) rs2134843708
NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly)
NM_031471.6(FERMT3):c.435T>C (p.Pro145=) rs2134843748
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.45A>G (p.Ser15=)
NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg)
NM_031471.6(FERMT3):c.479A>T (p.Glu160Val) rs2134843975
NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter) rs121918296
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+13G>T
NM_031471.6(FERMT3):c.514+15G>A
NM_031471.6(FERMT3):c.514+17G>A
NM_031471.6(FERMT3):c.514+20G>A
NM_031471.6(FERMT3):c.514+4A>G rs1591027554
NM_031471.6(FERMT3):c.515-10T>G
NM_031471.6(FERMT3):c.515-16C>G
NM_031471.6(FERMT3):c.515-7A>T
NM_031471.6(FERMT3):c.521C>T (p.Ala174Val) rs2134845189
NM_031471.6(FERMT3):c.531G>C (p.Leu177=) rs1397774460
NM_031471.6(FERMT3):c.534C>T (p.Phe178=)
NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu) rs778967874
NM_031471.6(FERMT3):c.540G>A (p.Gly180=)
NM_031471.6(FERMT3):c.540del (p.Met181fs) rs2134845306
NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser)
NM_031471.6(FERMT3):c.552C>T (p.His184=) rs2134845391
NM_031471.6(FERMT3):c.560A>G (p.Asp187Gly) rs1946432873
NM_031471.6(FERMT3):c.564C>T (p.Ser188=)
NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu) rs150500299
NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro)
NM_031471.6(FERMT3):c.609G>A (p.Pro203=)
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.657G>A (p.Leu219=) rs2134846219
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) rs1591028090
NM_031471.6(FERMT3):c.683+19C>G rs759456987
NM_031471.6(FERMT3):c.683+5A>C rs1946435926
NM_031471.6(FERMT3):c.684-10C>G rs201247420
NM_031471.6(FERMT3):c.684-10C>T rs201247420
NM_031471.6(FERMT3):c.684-1G>A
NM_031471.6(FERMT3):c.684-6G>T
NM_031471.6(FERMT3):c.684-9G>A rs765206442
NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) rs121918298
NM_031471.6(FERMT3):c.699G>T (p.Ser233=) rs750515226
NM_031471.6(FERMT3):c.700C>A (p.Arg234=) rs1260750258
NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp)
NM_031471.6(FERMT3):c.702G>A (p.Arg234=) rs780592693
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.756G>A (p.Lys252=) rs2134847985
NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg) rs1359134455
NM_031471.6(FERMT3):c.771C>T (p.Phe257=) rs368973559
NM_031471.6(FERMT3):c.786+16G>A
NM_031471.6(FERMT3):c.786+18G>A
NM_031471.6(FERMT3):c.786+1G>T
NM_031471.6(FERMT3):c.787-10C>T
NM_031471.6(FERMT3):c.787-8C>A rs202116077
NM_031471.6(FERMT3):c.787-8C>G rs202116077
NM_031471.6(FERMT3):c.787-8C>T rs202116077
NM_031471.6(FERMT3):c.787-8del rs748191376
NM_031471.6(FERMT3):c.787-8dup rs748191376
NM_031471.6(FERMT3):c.787-9C>T rs1399195192
NM_031471.6(FERMT3):c.790G>C (p.Asp264His) rs1303226802
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) rs1591037806
NM_031471.6(FERMT3):c.834C>T (p.Asp278=)
NM_031471.6(FERMT3):c.843G>A (p.Leu281=)
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs)
NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp) rs568602034
NM_031471.6(FERMT3):c.861C>T (p.Thr287=)
NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys) rs1294902127
NM_031471.6(FERMT3):c.87C>T (p.Ala29=)
NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr) rs1030764940
NM_031471.6(FERMT3):c.891G>A (p.Leu297=) rs2134879914
NM_031471.6(FERMT3):c.894+20G>A
NM_031471.6(FERMT3):c.894+9C>A
NM_031471.6(FERMT3):c.894+9C>T rs377003245
NM_031471.6(FERMT3):c.895-19T>C rs1946625797
NM_031471.6(FERMT3):c.895-5C>T
NM_031471.6(FERMT3):c.90G>A (p.Glu30=)
NM_031471.6(FERMT3):c.912G>T (p.Leu304=) rs1946626509
NM_031471.6(FERMT3):c.921del (p.Ser307fs) rs2134880586
NM_031471.6(FERMT3):c.930G>A (p.Val310=)
NM_031471.6(FERMT3):c.930G>T (p.Val310=) rs199508330
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.987C>T (p.Asn329=)
NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala) rs1591038431
NM_031471.6(FERMT3):c.9G>A (p.Gly3=)

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