ClinVar Miner

List of variants studied for Distal hereditary motor neuropathy type 2 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 673
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HGVS dbSNP gnomAD frequency
NM_205836.3(FBXO38):c.1619-4G>T rs11168047 0.42278
NM_205836.3(FBXO38):c.3170+11T>C rs10051223 0.42131
NM_205836.3(FBXO38):c.1774T>C (p.Ser592Pro) rs10043775 0.27167
NM_205836.3(FBXO38):c.962+18A>G rs10077690 0.20380
NM_205836.3(FBXO38):c.2680G>A (p.Ala894Thr) rs11949133 0.03254
NM_205836.3(FBXO38):c.2654-16T>C rs147707335 0.02178
NM_205836.3(FBXO38):c.198A>G (p.Leu66=) rs74863106 0.01749
NM_205836.3(FBXO38):c.593-13A>T rs61555444 0.00559
NM_205836.3(FBXO38):c.87T>C (p.Tyr29=) rs77480566 0.00254
NM_205836.3(FBXO38):c.2341C>T (p.Pro781Ser) rs116266000 0.00134
NM_205836.3(FBXO38):c.3019C>A (p.Gln1007Lys) rs112383068 0.00098
NM_205836.3(FBXO38):c.3547G>A (p.Val1183Ile) rs143682696 0.00091
NM_205836.3(FBXO38):c.2146A>G (p.Ser716Gly) rs150893158 0.00050
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) rs142117467 0.00044
NM_205836.3(FBXO38):c.2889G>C (p.Lys963Asn) rs371555180 0.00039
NM_205836.3(FBXO38):c.1093+20A>C rs140611091 0.00033
NM_205836.3(FBXO38):c.504T>C (p.Phe168=) rs377754520 0.00029
NM_205836.3(FBXO38):c.2985C>T (p.Pro995=) rs144172824 0.00025
NM_205836.3(FBXO38):c.3393T>C (p.Thr1131=) rs148901341 0.00025
NM_205836.3(FBXO38):c.456A>G (p.Val152=) rs146162318 0.00023
NM_205836.3(FBXO38):c.2200G>A (p.Gly734Ser) rs140445029 0.00021
NM_205836.3(FBXO38):c.702A>G (p.Leu234=) rs144011381 0.00020
NM_205836.3(FBXO38):c.1958A>G (p.Asn653Ser) rs140204686 0.00019
NM_205836.3(FBXO38):c.1861C>T (p.Arg621Cys) rs146121161 0.00017
NM_205836.3(FBXO38):c.3379G>A (p.Asp1127Asn) rs145662452 0.00017
NM_205836.3(FBXO38):c.427-18T>C rs1237631648 0.00017
NM_205836.3(FBXO38):c.2903C>G (p.Pro968Arg) rs141168806 0.00016
NM_205836.3(FBXO38):c.1862G>A (p.Arg621His) rs199901955 0.00014
NM_205836.3(FBXO38):c.2736C>T (p.Ile912=) rs142105545 0.00012
NM_205836.3(FBXO38):c.1491C>T (p.Asp497=) rs146067715 0.00011
NM_205836.3(FBXO38):c.1968G>T (p.Gln656His) rs370471937 0.00011
NM_205836.3(FBXO38):c.547C>T (p.Leu183=) rs140174313 0.00011
NM_205836.3(FBXO38):c.731-5T>C rs528175277 0.00011
NM_205836.3(FBXO38):c.1168A>G (p.Ile390Val) rs199972552 0.00010
NM_205836.3(FBXO38):c.1394G>A (p.Arg465His) rs200187682 0.00010
NM_205836.3(FBXO38):c.3261C>G (p.Ile1087Met) rs201719515 0.00010
NM_205836.3(FBXO38):c.1117G>A (p.Val373Met) rs201279960 0.00009
NM_205836.3(FBXO38):c.1738+8T>A rs369463389 0.00009
NM_205836.3(FBXO38):c.2231T>C (p.Val744Ala) rs372364064 0.00009
NM_205836.3(FBXO38):c.3120G>C (p.Arg1040=) rs770089729 0.00009
NM_205836.3(FBXO38):c.3226A>G (p.Lys1076Glu) rs764602730 0.00009
NM_205836.3(FBXO38):c.2157C>T (p.Asn719=) rs374180472 0.00008
NM_205836.3(FBXO38):c.2176G>A (p.Asp726Asn) rs548894296 0.00008
NM_205836.3(FBXO38):c.1398A>G (p.Glu466=) rs762335815 0.00007
NM_205836.3(FBXO38):c.1834G>A (p.Val612Ile) rs201999494 0.00007
NM_205836.3(FBXO38):c.3025-13A>T rs201806797 0.00007
NM_205836.3(FBXO38):c.561A>G (p.Ile187Met) rs750935580 0.00007
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) rs148337492 0.00006
NM_205836.3(FBXO38):c.1619-7G>A rs374684212 0.00006
NM_205836.3(FBXO38):c.1858C>T (p.Arg620Trp) rs539397614 0.00006
NM_205836.3(FBXO38):c.2126C>G (p.Ala709Gly) rs776182581 0.00006
NM_205836.3(FBXO38):c.2661C>G (p.Ala887=) rs142852014 0.00006
NM_205836.3(FBXO38):c.2675G>A (p.Arg892His) rs183483408 0.00006
NM_205836.3(FBXO38):c.2683A>G (p.Met895Val) rs758909222 0.00006
NM_205836.3(FBXO38):c.2754+16T>G rs972756295 0.00006
NM_205836.3(FBXO38):c.3078C>T (p.His1026=) rs370895783 0.00006
NM_205836.3(FBXO38):c.3315C>T (p.Phe1105=) rs552366782 0.00006
NM_205836.3(FBXO38):c.1110G>A (p.Ala370=) rs768439318 0.00005
NM_205836.3(FBXO38):c.1410T>A (p.Gly470=) rs762232515 0.00005
NM_205836.3(FBXO38):c.1756C>T (p.Arg586Cys) rs144744644 0.00005
NM_205836.3(FBXO38):c.2175C>T (p.Pro725=) rs139469864 0.00005
NM_205836.3(FBXO38):c.2212G>A (p.Glu738Lys) rs141211499 0.00005
NM_205836.3(FBXO38):c.3358G>A (p.Ala1120Thr) rs140529583 0.00005
NM_205836.3(FBXO38):c.3490G>A (p.Val1164Ile) rs902315086 0.00005
NM_205836.3(FBXO38):c.3536A>G (p.Asn1179Ser) rs373082610 0.00005
NM_205836.3(FBXO38):c.781G>A (p.Ala261Thr) rs760815624 0.00005
NM_205836.3(FBXO38):c.1169T>C (p.Ile390Thr) rs141355914 0.00004
NM_205836.3(FBXO38):c.1408-17T>C rs1446308435 0.00004
NM_205836.3(FBXO38):c.1484A>G (p.Asn495Ser) rs753598712 0.00004
NM_205836.3(FBXO38):c.1527C>T (p.His509=) rs182585967 0.00004
NM_205836.3(FBXO38):c.1560C>T (p.Asp520=) rs774448345 0.00004
NM_205836.3(FBXO38):c.1577G>A (p.Arg526Gln) rs376255193 0.00004
NM_205836.3(FBXO38):c.1685C>T (p.Thr562Ile) rs748051444 0.00004
NM_205836.3(FBXO38):c.2095G>A (p.Asp699Asn) rs569854063 0.00004
NM_205836.3(FBXO38):c.2171G>A (p.Ser724Asn) rs376265947 0.00004
NM_205836.3(FBXO38):c.2181T>C (p.Phe727=) rs370826896 0.00004
NM_205836.3(FBXO38):c.2199C>T (p.Ser733=) rs756876029 0.00004
NM_205836.3(FBXO38):c.2201G>C (p.Gly734Ala) rs745545823 0.00004
NM_205836.3(FBXO38):c.2226A>G (p.Thr742=) rs201175127 0.00004
NM_205836.3(FBXO38):c.2263G>A (p.Gly755Ser) rs201279543 0.00004
NM_205836.3(FBXO38):c.2332T>A (p.Cys778Ser) rs770230868 0.00004
NM_205836.3(FBXO38):c.2751G>A (p.Val917=) rs201169649 0.00004
NM_205836.3(FBXO38):c.27A>G (p.Lys9=) rs574130437 0.00004
NM_205836.3(FBXO38):c.3473G>A (p.Arg1158His) rs754331887 0.00004
NM_205836.3(FBXO38):c.1213C>T (p.Leu405=) rs746060798 0.00003
NM_205836.3(FBXO38):c.1359C>T (p.Pro453=) rs556404221 0.00003
NM_205836.3(FBXO38):c.1642G>A (p.Val548Ile) rs751449877 0.00003
NM_205836.3(FBXO38):c.1688C>A (p.Pro563Gln) rs779538575 0.00003
NM_205836.3(FBXO38):c.1759G>A (p.Val587Ile) rs553996394 0.00003
NM_205836.3(FBXO38):c.1796A>C (p.Glu599Ala) rs781374639 0.00003
NM_205836.3(FBXO38):c.1851C>T (p.Asn617=) rs764859757 0.00003
NM_205836.3(FBXO38):c.2008T>C (p.Cys670Arg) rs143902310 0.00003
NM_205836.3(FBXO38):c.2201G>A (p.Gly734Asp) rs745545823 0.00003
NM_205836.3(FBXO38):c.2202C>T (p.Gly734=) rs771687051 0.00003
NM_205836.3(FBXO38):c.2211C>T (p.Ser737=) rs145527741 0.00003
NM_205836.3(FBXO38):c.2654-19_2654-18insC rs1348325085 0.00003
NM_205836.3(FBXO38):c.2794A>G (p.Met932Val) rs372479730 0.00003
NM_205836.3(FBXO38):c.2857+3A>G rs369142719 0.00003
NM_205836.3(FBXO38):c.3275-14C>T rs368303623 0.00003
NM_205836.3(FBXO38):c.3439A>G (p.Met1147Val) rs550138374 0.00003
NM_205836.3(FBXO38):c.506G>A (p.Arg169His) rs771708027 0.00003
NM_205836.3(FBXO38):c.54A>G (p.Pro18=) rs750961469 0.00003
NM_205836.3(FBXO38):c.594G>A (p.Gly198=) rs370260497 0.00003
NM_205836.3(FBXO38):c.707C>A (p.Thr236Asn) rs370799682 0.00003
NM_205836.3(FBXO38):c.785G>A (p.Arg262Gln) rs1255912171 0.00003
NM_205836.3(FBXO38):c.888C>T (p.His296=) rs539737502 0.00003
NM_205836.3(FBXO38):c.1093+15A>C rs769980160 0.00002
NM_205836.3(FBXO38):c.1094-6T>C rs1340633712 0.00002
NM_205836.3(FBXO38):c.1528G>A (p.Asp510Asn) rs187292361 0.00002
NM_205836.3(FBXO38):c.1617C>T (p.Asp539=) rs149341400 0.00002
NM_205836.3(FBXO38):c.1618G>A (p.Ala540Thr) rs779438870 0.00002
NM_205836.3(FBXO38):c.1678A>C (p.Asn560His) rs1047521757 0.00002
NM_205836.3(FBXO38):c.1777A>G (p.Ile593Val) rs780773753 0.00002
NM_205836.3(FBXO38):c.1918+11G>A rs746955866 0.00002
NM_205836.3(FBXO38):c.1922G>A (p.Ser641Asn) rs754767072 0.00002
NM_205836.3(FBXO38):c.1985A>G (p.Gln662Arg) rs748950456 0.00002
NM_205836.3(FBXO38):c.2234A>T (p.Asp745Val) rs145266253 0.00002
NM_205836.3(FBXO38):c.228C>T (p.Leu76=) rs1373717162 0.00002
NM_205836.3(FBXO38):c.2303C>G (p.Ala768Gly) rs142129179 0.00002
NM_205836.3(FBXO38):c.2338A>G (p.Arg780Gly) rs749448948 0.00002
NM_205836.3(FBXO38):c.2378A>G (p.Asp793Gly) rs867448350 0.00002
NM_205836.3(FBXO38):c.2424G>A (p.Pro808=) rs1333921499 0.00002
NM_205836.3(FBXO38):c.2679C>T (p.His893=) rs747893527 0.00002
NM_205836.3(FBXO38):c.2689C>T (p.Arg897Trp) rs138967647 0.00002
NM_205836.3(FBXO38):c.2858-18A>G rs376871117 0.00002
NM_205836.3(FBXO38):c.2905A>G (p.Ile969Val) rs373620719 0.00002
NM_205836.3(FBXO38):c.2915G>A (p.Arg972Gln) rs770314457 0.00002
NM_205836.3(FBXO38):c.2941C>G (p.Leu981Val) rs367636419 0.00002
NM_205836.3(FBXO38):c.3047A>G (p.Gln1016Arg) rs1020465041 0.00002
NM_205836.3(FBXO38):c.3130C>T (p.Arg1044Cys) rs1269391994 0.00002
NM_205836.3(FBXO38):c.3354C>G (p.Ser1118Arg) rs147580008 0.00002
NM_205836.3(FBXO38):c.3362G>A (p.Arg1121Gln) rs149713669 0.00002
NM_205836.3(FBXO38):c.3504A>G (p.Val1168=) rs750597830 0.00002
NM_205836.3(FBXO38):c.4G>A (p.Gly2Arg) rs1272218730 0.00002
NM_205836.3(FBXO38):c.510T>C (p.Asn170=) rs760368532 0.00002
NM_205836.3(FBXO38):c.625A>G (p.Met209Val) rs778733611 0.00002
NM_205836.3(FBXO38):c.869G>A (p.Gly290Asp) rs762106449 0.00002
NM_205836.3(FBXO38):c.91A>C (p.Asn31His) rs112086763 0.00002
NM_205836.3(FBXO38):c.1012T>G (p.Ser338Ala) rs1051684244 0.00001
NM_205836.3(FBXO38):c.1022A>G (p.Lys341Arg) rs889149643 0.00001
NM_205836.3(FBXO38):c.1094-14del rs748509913 0.00001
NM_205836.3(FBXO38):c.1094-17T>A rs751806038 0.00001
NM_205836.3(FBXO38):c.1094-8C>G rs777689493 0.00001
NM_205836.3(FBXO38):c.1109C>T (p.Ala370Val) rs779899138 0.00001
NM_205836.3(FBXO38):c.1155T>C (p.Gly385=) rs1581256078 0.00001
NM_205836.3(FBXO38):c.1156A>G (p.Ile386Val) rs571472179 0.00001
NM_205836.3(FBXO38):c.1170A>G (p.Ile390Met) rs751242312 0.00001
NM_205836.3(FBXO38):c.1190A>G (p.Glu397Gly) rs1434711875 0.00001
NM_205836.3(FBXO38):c.1191A>G (p.Glu397=) rs764041718 0.00001
NM_205836.3(FBXO38):c.1208A>G (p.Lys403Arg) rs1290446201 0.00001
NM_205836.3(FBXO38):c.1265-7T>C rs888571837 0.00001
NM_205836.3(FBXO38):c.1283G>A (p.Arg428Gln) rs1164752305 0.00001
NM_205836.3(FBXO38):c.1305A>T (p.Val435=) rs142263196 0.00001
NM_205836.3(FBXO38):c.1307G>A (p.Arg436Gln) rs777638200 0.00001
NM_205836.3(FBXO38):c.1327G>C (p.Asp443His) rs1318477469 0.00001
NM_205836.3(FBXO38):c.135C>G (p.Leu45=) rs773397825 0.00001
NM_205836.3(FBXO38):c.1378C>T (p.Leu460=) rs199662567 0.00001
NM_205836.3(FBXO38):c.137C>T (p.Pro46Leu) rs1403533819 0.00001
NM_205836.3(FBXO38):c.1408-20G>A rs2531767468 0.00001
NM_205836.3(FBXO38):c.1467T>C (p.Val489=) rs759754735 0.00001
NM_205836.3(FBXO38):c.1531A>G (p.Asn511Asp) rs746674990 0.00001
NM_205836.3(FBXO38):c.1540C>T (p.His514Tyr) rs191831422 0.00001
NM_205836.3(FBXO38):c.1554C>T (p.Asp518=) rs771021698 0.00001
NM_205836.3(FBXO38):c.1563G>A (p.Glu521=) rs759678292 0.00001
NM_205836.3(FBXO38):c.1567A>C (p.Asn523His) rs1468271814 0.00001
NM_205836.3(FBXO38):c.1569T>C (p.Asn523=) rs1199686984 0.00001
NM_205836.3(FBXO38):c.157A>G (p.Met53Val) rs1361110357 0.00001
NM_205836.3(FBXO38):c.1591C>G (p.Pro531Ala) rs928826029 0.00001
NM_205836.3(FBXO38):c.1618+8A>G rs958930668 0.00001
NM_205836.3(FBXO38):c.1619-6T>C rs775819414 0.00001
NM_205836.3(FBXO38):c.1619-8C>T rs774304267 0.00001
NM_205836.3(FBXO38):c.1641C>T (p.Ile547=) rs762999001 0.00001
NM_205836.3(FBXO38):c.1669G>A (p.Glu557Lys) rs556139503 0.00001
NM_205836.3(FBXO38):c.1670A>G (p.Glu557Gly) rs1003116892 0.00001
NM_205836.3(FBXO38):c.1698C>A (p.Ser566Arg) rs375251121 0.00001
NM_205836.3(FBXO38):c.1705A>G (p.Ile569Val) rs772345898 0.00001
NM_205836.3(FBXO38):c.1709T>C (p.Ile570Thr) rs1367887797 0.00001
NM_205836.3(FBXO38):c.1711C>T (p.Pro571Ser) rs766059420 0.00001
NM_205836.3(FBXO38):c.1729G>C (p.Glu577Gln) rs759341101 0.00001
NM_205836.3(FBXO38):c.172C>T (p.Arg58Trp) rs775165552 0.00001
NM_205836.3(FBXO38):c.1738+7_1738+8del rs777931331 0.00001
NM_205836.3(FBXO38):c.173G>A (p.Arg58Gln) rs760456022 0.00001
NM_205836.3(FBXO38):c.1743C>A (p.Pro581=) rs1408503689 0.00001
NM_205836.3(FBXO38):c.1757G>A (p.Arg586His) rs369833842 0.00001
NM_205836.3(FBXO38):c.17A>G (p.Lys6Arg) rs776031529 0.00001
NM_205836.3(FBXO38):c.1813G>C (p.Asp605His) rs1234054639 0.00001
NM_205836.3(FBXO38):c.1815T>C (p.Asp605=) rs377548094 0.00001
NM_205836.3(FBXO38):c.1852G>A (p.Gly618Ser) rs750086990 0.00001
NM_205836.3(FBXO38):c.1859G>A (p.Arg620Gln) rs766830490 0.00001
NM_205836.3(FBXO38):c.1880A>G (p.Glu627Gly) rs1376821948 0.00001
NM_205836.3(FBXO38):c.1918+10T>C rs940922892 0.00001
NM_205836.3(FBXO38):c.1918+8A>G rs1345887964 0.00001
NM_205836.3(FBXO38):c.1919-19C>T rs746868253 0.00001
NM_205836.3(FBXO38):c.192G>A (p.Val64=) rs763779865 0.00001
NM_205836.3(FBXO38):c.1945C>T (p.Arg649Ter) rs865970485 0.00001
NM_205836.3(FBXO38):c.1977G>A (p.Gln659=) rs772739552 0.00001
NM_205836.3(FBXO38):c.1996G>A (p.Glu666Lys) rs770649145 0.00001
NM_205836.3(FBXO38):c.2053A>G (p.Met685Val) rs775906161 0.00001
NM_205836.3(FBXO38):c.2062G>A (p.Ala688Thr) rs913559304 0.00001
NM_205836.3(FBXO38):c.2069A>T (p.Asp690Val) rs753859838 0.00001
NM_205836.3(FBXO38):c.206G>A (p.Arg69Gln) rs761704413 0.00001
NM_205836.3(FBXO38):c.2089A>G (p.Asn697Asp) rs750617094 0.00001
NM_205836.3(FBXO38):c.2156A>G (p.Asn719Ser) rs1027079492 0.00001
NM_205836.3(FBXO38):c.2189C>T (p.Thr730Met) rs767223993 0.00001
NM_205836.3(FBXO38):c.2203G>A (p.Gly735Ser) rs779561720 0.00001
NM_205836.3(FBXO38):c.2223T>C (p.Pro741=) rs892701086 0.00001
NM_205836.3(FBXO38):c.2283G>A (p.Glu761=) rs779798577 0.00001
NM_205836.3(FBXO38):c.2295G>T (p.Glu765Asp) rs966952897 0.00001
NM_205836.3(FBXO38):c.2309G>A (p.Ser770Asn) rs1485057991 0.00001
NM_205836.3(FBXO38):c.2343C>T (p.Pro781=) rs764011030 0.00001
NM_205836.3(FBXO38):c.2367C>G (p.Ser789Arg) rs1388163904 0.00001
NM_205836.3(FBXO38):c.2386C>T (p.Arg796Cys) rs1184035899 0.00001
NM_205836.3(FBXO38):c.238C>T (p.Arg80Trp) rs1487923917 0.00001
NM_205836.3(FBXO38):c.2395A>G (p.Thr799Ala) rs1581281465 0.00001
NM_205836.3(FBXO38):c.239G>A (p.Arg80Gln) rs751167811 0.00001
NM_205836.3(FBXO38):c.2402G>A (p.Arg801Gln) rs751618541 0.00001
NM_205836.3(FBXO38):c.2404G>A (p.Ala802Thr) rs2531812085 0.00001
NM_205836.3(FBXO38):c.2423C>T (p.Pro808Leu) rs757209133 0.00001
NM_205836.3(FBXO38):c.2433G>A (p.Thr811=) rs368967979 0.00001
NM_205836.3(FBXO38):c.2434A>C (p.Arg812=) rs1357194769 0.00001
NM_205836.3(FBXO38):c.2439C>T (p.Ser813=) rs1229191782 0.00001
NM_205836.3(FBXO38):c.2447C>T (p.Ser816Phe) rs774255094 0.00001
NM_205836.3(FBXO38):c.261T>A (p.Ser87Arg) rs748706886 0.00001
NM_205836.3(FBXO38):c.2654-20T>C rs1167428702 0.00001
NM_205836.3(FBXO38):c.2674C>T (p.Arg892Cys) rs763710454 0.00001
NM_205836.3(FBXO38):c.2684T>C (p.Met895Thr) rs766584164 0.00001
NM_205836.3(FBXO38):c.2695C>T (p.Arg899Trp) rs755084155 0.00001
NM_205836.3(FBXO38):c.2700A>G (p.Thr900=) rs781312906 0.00001
NM_205836.3(FBXO38):c.2711C>A (p.Ser904Tyr) rs1014349605 0.00001
NM_205836.3(FBXO38):c.2715T>C (p.Thr905=) rs748376542 0.00001
NM_205836.3(FBXO38):c.2755-19C>T rs1754167640 0.00001
NM_205836.3(FBXO38):c.2755-8G>A rs1468803464 0.00001
NM_205836.3(FBXO38):c.2837C>G (p.Pro946Arg) rs144849921 0.00001
NM_205836.3(FBXO38):c.2857+7A>G rs1390400626 0.00001
NM_205836.3(FBXO38):c.286A>G (p.Thr96Ala) rs1185057010 0.00001
NM_205836.3(FBXO38):c.2898T>G (p.Asn966Lys) rs148580014 0.00001
NM_205836.3(FBXO38):c.291A>G (p.Leu97=) rs1339219934 0.00001
NM_205836.3(FBXO38):c.2973A>G (p.Leu991=) rs759970509 0.00001
NM_205836.3(FBXO38):c.2978T>C (p.Met993Thr) rs1754475974 0.00001
NM_205836.3(FBXO38):c.2995C>T (p.Arg999Cys) rs760782381 0.00001
NM_205836.3(FBXO38):c.3001A>G (p.Ile1001Val) rs754091880 0.00001
NM_205836.3(FBXO38):c.3021G>A (p.Gln1007=) rs1258785308 0.00001
NM_205836.3(FBXO38):c.3024+5C>T rs781235057 0.00001
NM_205836.3(FBXO38):c.3024+6G>A rs146510581 0.00001
NM_205836.3(FBXO38):c.3025-11G>A rs372858978 0.00001
NM_205836.3(FBXO38):c.3025-16A>G rs371855987 0.00001
NM_205836.3(FBXO38):c.310G>A (p.Val104Ile) rs889667327 0.00001
NM_205836.3(FBXO38):c.3119G>A (p.Arg1040Gln) rs373875135 0.00001
NM_205836.3(FBXO38):c.3163A>G (p.Ile1055Val) rs1399229383 0.00001
NM_205836.3(FBXO38):c.3185A>G (p.Tyr1062Cys) rs1408402817 0.00001
NM_205836.3(FBXO38):c.3236C>A (p.Pro1079His) rs757930681 0.00001
NM_205836.3(FBXO38):c.3274+14A>G rs748557217 0.00001
NM_205836.3(FBXO38):c.3274+16T>C rs886425647 0.00001
NM_205836.3(FBXO38):c.3275-13A>G rs932028811 0.00001
NM_205836.3(FBXO38):c.3275-14del rs766338496 0.00001
NM_205836.3(FBXO38):c.3275-4T>C rs749392258 0.00001
NM_205836.3(FBXO38):c.3277G>A (p.Val1093Ile) rs779324806 0.00001
NM_205836.3(FBXO38):c.3366C>T (p.Tyr1122=) rs774026480 0.00001
NM_205836.3(FBXO38):c.3378C>T (p.Asp1126=) rs759126729 0.00001
NM_205836.3(FBXO38):c.3384A>G (p.Glu1128=) rs371295656 0.00001
NM_205836.3(FBXO38):c.3387A>C (p.Glu1129Asp) rs1415387050 0.00001
NM_205836.3(FBXO38):c.338G>A (p.Arg113Gln) rs1201701262 0.00001
NM_205836.3(FBXO38):c.3390C>A (p.Ser1130Arg) rs1203605915 0.00001
NM_205836.3(FBXO38):c.3391A>C (p.Thr1131Pro) rs1561551063 0.00001
NM_205836.3(FBXO38):c.340T>C (p.Tyr114His) rs144375164 0.00001
NM_205836.3(FBXO38):c.3428C>T (p.Ala1143Val) rs1554083508 0.00001
NM_205836.3(FBXO38):c.3433A>T (p.Ile1145Phe) rs759030587 0.00001
NM_205836.3(FBXO38):c.3456G>A (p.Glu1152=) rs1314390167 0.00001
NM_205836.3(FBXO38):c.3471G>A (p.Met1157Ile) rs764469305 0.00001
NM_205836.3(FBXO38):c.3472C>T (p.Arg1158Cys) rs1273071907 0.00001
NM_205836.3(FBXO38):c.3482A>C (p.Lys1161Thr) rs997254848 0.00001
NM_205836.3(FBXO38):c.3506T>C (p.Val1169Ala) rs1754718621 0.00001
NM_205836.3(FBXO38):c.3562A>T (p.Ile1188Phe) rs777560980 0.00001
NM_205836.3(FBXO38):c.376T>C (p.Phe126Leu) rs756706023 0.00001
NM_205836.3(FBXO38):c.37A>T (p.Met13Leu) rs1758393696 0.00001
NM_205836.3(FBXO38):c.409G>A (p.Ala137Thr) rs749305250 0.00001
NM_205836.3(FBXO38):c.438T>C (p.Thr146=) rs771410003 0.00001
NM_205836.3(FBXO38):c.45T>C (p.Asn15=) rs1470905234 0.00001
NM_205836.3(FBXO38):c.465T>C (p.Ile155=) rs1752206103 0.00001
NM_205836.3(FBXO38):c.481C>T (p.His161Tyr) rs1244178138 0.00001
NM_205836.3(FBXO38):c.525T>C (p.Phe175=) rs1752209871 0.00001
NM_205836.3(FBXO38):c.529A>G (p.Ile177Val) rs560664064 0.00001
NM_205836.3(FBXO38):c.592+3G>A rs751819675 0.00001
NM_205836.3(FBXO38):c.593-19T>C rs1216134708 0.00001
NM_205836.3(FBXO38):c.641A>G (p.Tyr214Cys) rs776215149 0.00001
NM_205836.3(FBXO38):c.652G>A (p.Val218Ile) rs747805838 0.00001
NM_205836.3(FBXO38):c.694A>G (p.Ile232Val) rs1453234833 0.00001
NM_205836.3(FBXO38):c.696C>T (p.Ile232=) rs774425297 0.00001
NM_205836.3(FBXO38):c.698G>A (p.Ser233Asn) rs1752346814 0.00001
NM_205836.3(FBXO38):c.69A>G (p.Ala23=) rs141470888 0.00001
NM_205836.3(FBXO38):c.711C>T (p.Phe237=) rs199969692 0.00001
NM_205836.3(FBXO38):c.71A>G (p.Asp24Gly) rs777181109 0.00001
NM_205836.3(FBXO38):c.731-12T>C rs201616243 0.00001
NM_205836.3(FBXO38):c.792G>A (p.Leu264=) rs1422318649 0.00001
NM_205836.3(FBXO38):c.812G>A (p.Arg271Gln) rs896205714 0.00001
NM_205836.3(FBXO38):c.814G>A (p.Val272Ile) rs1216060808 0.00001
NM_205836.3(FBXO38):c.862A>C (p.Arg288=) rs1304991567 0.00001
NM_205836.3(FBXO38):c.869-8G>A rs777036251 0.00001
NM_205836.3(FBXO38):c.869-9C>T rs768616588 0.00001
NM_205836.3(FBXO38):c.86A>G (p.Tyr29Cys) rs775196268 0.00001
NM_205836.3(FBXO38):c.871G>A (p.Gly291Ser) rs1752601122 0.00001
NM_205836.3(FBXO38):c.892A>G (p.Ile298Val) rs149020291 0.00001
NM_205836.3(FBXO38):c.915T>G (p.Asn305Lys) rs767430187 0.00001
NM_205836.3(FBXO38):c.942C>T (p.Leu314=) rs755714527 0.00001
NM_205836.3(FBXO38):c.958C>T (p.Arg320Cys) rs779869264 0.00001
NM_205836.3(FBXO38):c.959G>A (p.Arg320His) rs756850214 0.00001
NM_205836.3(FBXO38):c.962+12C>G rs758680515 0.00001
NM_205836.3(FBXO38):c.962+3A>G rs779258103 0.00001
NM_205836.3(FBXO38):c.963-16C>G rs1752696604 0.00001
NM_205836.3(FBXO38):c.976C>T (p.Arg326Trp) rs763613189 0.00001
NM_205836.3(FBXO38):c.988T>A (p.Ser330Thr) rs764932115 0.00001
NC_000005.10:g.(?_148394767)_(148406404_?)dup
NC_000005.9:g.(?_147762498)_(147823399_?)del
NM_205836.3(FBXO38):c.1008C>G (p.Val336=) rs2113563750
NM_205836.3(FBXO38):c.1062T>C (p.His354=) rs2531742322
NM_205836.3(FBXO38):c.1073T>A (p.Val358Glu) rs2531742365
NM_205836.3(FBXO38):c.1093+2T>A rs1554079701
NM_205836.3(FBXO38):c.1093+9del
NM_205836.3(FBXO38):c.1094-11G>A rs1218622212
NM_205836.3(FBXO38):c.1094-11G>T
NM_205836.3(FBXO38):c.1094-8C>T rs777689493
NM_205836.3(FBXO38):c.1096A>C (p.Arg366=) rs2531754815
NM_205836.3(FBXO38):c.1104T>C (p.Ala368=) rs1485157527
NM_205836.3(FBXO38):c.1123T>C (p.Tyr375His) rs1752924212
NM_205836.3(FBXO38):c.1132G>T (p.Ala378Ser) rs2531754990
NM_205836.3(FBXO38):c.1159A>G (p.Ile387Val) rs1271122205
NM_205836.3(FBXO38):c.1174A>G (p.Met392Val) rs2531755238
NM_205836.3(FBXO38):c.117C>T (p.Cys39=) rs2113505913
NM_205836.3(FBXO38):c.1196T>C (p.Phe399Ser)
NM_205836.3(FBXO38):c.1202G>C (p.Cys401Ser) rs777938088
NM_205836.3(FBXO38):c.1203T>C (p.Cys401=) rs146977833
NM_205836.3(FBXO38):c.1219A>G (p.Ile407Val) rs2531755449
NM_205836.3(FBXO38):c.1226A>G (p.Asn409Ser)
NM_205836.3(FBXO38):c.1233T>C (p.Pro411=) rs1581256311
NM_205836.3(FBXO38):c.1253A>G (p.Asn418Ser) rs2531755561
NM_205836.3(FBXO38):c.1258A>G (p.Ile420Val) rs1752930598
NM_205836.3(FBXO38):c.1264+7C>A rs748117269
NM_205836.3(FBXO38):c.1265-18A>T rs2531761944
NM_205836.3(FBXO38):c.1265-20T>G rs2531761936
NM_205836.3(FBXO38):c.1265-3C>T
NM_205836.3(FBXO38):c.1265-7T>G rs888571837
NM_205836.3(FBXO38):c.1273A>G (p.Arg425Gly) rs2531762065
NM_205836.3(FBXO38):c.1275A>G (p.Arg425=) rs1753027554
NM_205836.3(FBXO38):c.128+11G>T
NM_205836.3(FBXO38):c.128+19G>A rs1382575969
NM_205836.3(FBXO38):c.128+6A>G rs376515064
NM_205836.3(FBXO38):c.128+9G>T rs1376941419
NM_205836.3(FBXO38):c.1284A>G (p.Arg428=) rs138223855
NM_205836.3(FBXO38):c.1284A>T (p.Arg428=)
NM_205836.3(FBXO38):c.129-17T>C rs2531696900
NM_205836.3(FBXO38):c.129-20A>G
NM_205836.3(FBXO38):c.1302A>T (p.Leu434=) rs2531762299
NM_205836.3(FBXO38):c.1308G>A (p.Arg436=) rs750331046
NM_205836.3(FBXO38):c.1310G>T (p.Cys437Phe) rs1554080351
NM_205836.3(FBXO38):c.1329C>A (p.Asp443Glu) rs770394960
NM_205836.3(FBXO38):c.1349A>T (p.Glu450Val)
NM_205836.3(FBXO38):c.1353A>C (p.Leu451Phe) rs2531762612
NM_205836.3(FBXO38):c.1357C>T (p.Pro453Ser) rs2531762650
NM_205836.3(FBXO38):c.1387A>C (p.Met463Leu) rs2113584815
NM_205836.3(FBXO38):c.1393C>T (p.Arg465Cys)
NM_205836.3(FBXO38):c.13A>C (p.Lys5Gln) rs2531681793
NM_205836.3(FBXO38):c.1407+10A>G
NM_205836.3(FBXO38):c.1407+12T>G
NM_205836.3(FBXO38):c.1407+14G>T rs2113584936
NM_205836.3(FBXO38):c.1407+16G>A
NM_205836.3(FBXO38):c.1407+5G>A
NM_205836.3(FBXO38):c.1407+8A>G rs2531762933
NM_205836.3(FBXO38):c.1408-12G>A
NM_205836.3(FBXO38):c.1416T>C (p.Ala472=) rs1753093609
NM_205836.3(FBXO38):c.1417C>T (p.Arg473Ter) rs1172459945
NM_205836.3(FBXO38):c.1418G>A (p.Arg473Gln) rs770228743
NM_205836.3(FBXO38):c.1445T>C (p.Ile482Thr)
NM_205836.3(FBXO38):c.1454C>G (p.Ser485Ter) rs766414509
NM_205836.3(FBXO38):c.1458A>G (p.Ser486=) rs751775711
NM_205836.3(FBXO38):c.1471A>C (p.Asn491His) rs1561531225
NM_205836.3(FBXO38):c.1487A>G (p.Asn496Ser) rs1315072548
NM_205836.3(FBXO38):c.1492G>A (p.Asp498Asn) rs748833930
NM_205836.3(FBXO38):c.1493A>G (p.Asp498Gly) rs1753099051
NM_205836.3(FBXO38):c.1511A>G (p.Asn504Ser)
NM_205836.3(FBXO38):c.1513A>G (p.Asn505Asp) rs1753101306
NM_205836.3(FBXO38):c.1515T>C (p.Asn505=)
NM_205836.3(FBXO38):c.1518C>T (p.Ala506=) rs2113589139
NM_205836.3(FBXO38):c.1533C>G (p.Asn511Lys) rs768289009
NM_205836.3(FBXO38):c.1533C>T (p.Asn511=)
NM_205836.3(FBXO38):c.1535A>G (p.Asn512Ser) rs2531768193
NM_205836.3(FBXO38):c.1537C>G (p.His513Asp) rs1753104074
NM_205836.3(FBXO38):c.1576C>T (p.Arg526Trp) rs2531768584
NM_205836.3(FBXO38):c.157A>T (p.Met53Leu) rs1361110357
NM_205836.3(FBXO38):c.1585C>T (p.Leu529=)
NM_205836.3(FBXO38):c.1591C>T (p.Pro531Ser)
NM_205836.3(FBXO38):c.1608T>C (p.Phe536=) rs2113589792
NM_205836.3(FBXO38):c.1618+16T>A
NM_205836.3(FBXO38):c.1619-13A>T rs1753580127
NM_205836.3(FBXO38):c.1619-15A>T rs771361003
NM_205836.3(FBXO38):c.1619-7G>C rs374684212
NM_205836.3(FBXO38):c.1638C>T (p.Asp546=) rs1214333274
NM_205836.3(FBXO38):c.1643T>G (p.Val548Gly) rs1753582545
NM_205836.3(FBXO38):c.1660G>A (p.Val554Met) rs752367593
NM_205836.3(FBXO38):c.1663G>A (p.Val555Met) rs1012140873
NM_205836.3(FBXO38):c.1668C>T (p.Ala556=) rs778114879
NM_205836.3(FBXO38):c.1682A>G (p.Asn561Ser) rs1554081337
NM_205836.3(FBXO38):c.1685C>A (p.Thr562Asn) rs748051444
NM_205836.3(FBXO38):c.1689A>T (p.Pro563=) rs1753586363
NM_205836.3(FBXO38):c.1690G>C (p.Ala564Pro) rs371915188
NM_205836.3(FBXO38):c.1720G>T (p.Val574Phe) rs2531796012
NM_205836.3(FBXO38):c.1739-17C>G rs1164401974
NM_205836.3(FBXO38):c.1739-18C>T
NM_205836.3(FBXO38):c.1739-4del rs761558731
NM_205836.3(FBXO38):c.1739-4dup rs761558731
NM_205836.3(FBXO38):c.173G>T (p.Arg58Leu) rs760456022
NM_205836.3(FBXO38):c.1747G>A (p.Gly583Ser)
NM_205836.3(FBXO38):c.1757G>C (p.Arg586Pro) rs369833842
NM_205836.3(FBXO38):c.1766A>G (p.Lys589Arg)
NM_205836.3(FBXO38):c.1774T>G (p.Ser592Ala) rs10043775
NM_205836.3(FBXO38):c.1788T>C (p.His596=) rs2531801887
NM_205836.3(FBXO38):c.1791T>G (p.Asp597Glu) rs1554081566
NM_205836.3(FBXO38):c.1800T>A (p.Ser600Arg)
NM_205836.3(FBXO38):c.1801G>T (p.Asp601Tyr) rs2113621540
NM_205836.3(FBXO38):c.1805del (p.Asp602fs) rs2531802027
NM_205836.3(FBXO38):c.1806T>A (p.Asp602Glu) rs1222414075
NM_205836.3(FBXO38):c.1816A>G (p.Ser606Gly)
NM_205836.3(FBXO38):c.1829A>C (p.Gln610Pro) rs771845635
NM_205836.3(FBXO38):c.183G>T (p.Lys61Asn) rs2531697245
NM_205836.3(FBXO38):c.1840A>G (p.Ile614Val) rs760580207
NM_205836.3(FBXO38):c.1842T>G (p.Ile614Met)
NM_205836.3(FBXO38):c.1866C>T (p.Tyr622=)
NM_205836.3(FBXO38):c.1868C>G (p.Ser623Cys)
NM_205836.3(FBXO38):c.1872A>T (p.Glu624Asp) rs2531802812
NM_205836.3(FBXO38):c.1874G>A (p.Arg625His) rs756205818
NM_205836.3(FBXO38):c.1884A>G (p.Lys628=) rs1432315334
NM_205836.3(FBXO38):c.1888G>A (p.Gly630Arg)
NM_205836.3(FBXO38):c.188C>T (p.Ala63Val) rs2113521830
NM_205836.3(FBXO38):c.1893G>A (p.Glu631=) rs1293117799
NM_205836.3(FBXO38):c.1914G>A (p.Leu638=) rs142402947
NM_205836.3(FBXO38):c.1914G>C (p.Leu638Phe) rs142402947
NM_205836.3(FBXO38):c.1918+19C>G rs2113622260
NM_205836.3(FBXO38):c.1918+3G>A rs758236031
NM_205836.3(FBXO38):c.1918+9T>C rs2531803179
NM_205836.3(FBXO38):c.1919-2A>C rs2113627058
NM_205836.3(FBXO38):c.193A>G (p.Thr65Ala) rs2531697308
NM_205836.3(FBXO38):c.1941A>T (p.Pro647=) rs1295146827
NM_205836.3(FBXO38):c.1946G>A (p.Arg649Gln) rs2531809281
NM_205836.3(FBXO38):c.1953G>C (p.Arg651Ser) rs2113627223
NM_205836.3(FBXO38):c.1970T>A (p.Met657Lys) rs1753763617
NM_205836.3(FBXO38):c.1989T>G (p.Phe663Leu) rs1410536767
NM_205836.3(FBXO38):c.1991C>T (p.Pro664Leu) rs1753765028
NM_205836.3(FBXO38):c.1995C>T (p.Leu665=) rs1461803250
NM_205836.3(FBXO38):c.199T>A (p.Tyr67Asn) rs1751991718
NM_205836.3(FBXO38):c.1A>G (p.Met1Val) rs1758391504
NM_205836.3(FBXO38):c.2019C>T (p.Gly673=)
NM_205836.3(FBXO38):c.2025G>A (p.Gln675=)
NM_205836.3(FBXO38):c.2049C>T (p.Ala683=)
NM_205836.3(FBXO38):c.2050G>T (p.Asp684Tyr) rs1375697931
NM_205836.3(FBXO38):c.2052T>C (p.Asp684=) rs2113627556
NM_205836.3(FBXO38):c.2057A>C (p.Lys686Thr) rs764109688
NM_205836.3(FBXO38):c.2062G>T (p.Ala688Ser) rs913559304
NM_205836.3(FBXO38):c.2072T>C (p.Ile691Thr) rs765514195
NM_205836.3(FBXO38):c.2085A>G (p.Lys695=) rs2113627744
NM_205836.3(FBXO38):c.2096A>T (p.Asp699Val) rs1262248200
NM_205836.3(FBXO38):c.209T>C (p.Val70Ala) rs2531697413
NM_205836.3(FBXO38):c.2114G>A (p.Ser705Asn) rs1013990216
NM_205836.3(FBXO38):c.2128A>G (p.Ser710Gly) rs2113627979
NM_205836.3(FBXO38):c.2131A>C (p.Thr711Pro) rs1406784524
NM_205836.3(FBXO38):c.2134G>C (p.Val712Leu) rs1753773505
NM_205836.3(FBXO38):c.2135T>C (p.Val712Ala) rs2531810296
NM_205836.3(FBXO38):c.2150C>T (p.Ser717Leu)
NM_205836.3(FBXO38):c.2152C>T (p.His718Tyr) rs2531810400
NM_205836.3(FBXO38):c.2164T>C (p.Ser722Pro) rs1168710534
NM_205836.3(FBXO38):c.216A>G (p.Arg72=) rs1751992559
NM_205836.3(FBXO38):c.2177A>C (p.Asp726Ala) rs2113628246
NM_205836.3(FBXO38):c.2182G>A (p.Val728Ile) rs763198382
NM_205836.3(FBXO38):c.218_247del (p.Val73_Trp82del) rs1751992784
NM_205836.3(FBXO38):c.2190G>A (p.Thr730=)
NM_205836.3(FBXO38):c.2196C>T (p.Asn732=) rs1436645762
NM_205836.3(FBXO38):c.2207C>T (p.Ser736Phe)
NM_205836.3(FBXO38):c.2223T>A (p.Pro741=)
NM_205836.3(FBXO38):c.2224A>T (p.Thr742Ser)
NM_205836.3(FBXO38):c.2226A>T (p.Thr742=) rs201175127
NM_205836.3(FBXO38):c.2236G>A (p.Val746Met)
NM_205836.3(FBXO38):c.2257T>G (p.Ser753Ala) rs1188977922
NM_205836.3(FBXO38):c.2265T>G (p.Gly755=) rs2531811127
NM_205836.3(FBXO38):c.2275G>A (p.Asp759Asn) rs1300558545
NM_205836.3(FBXO38):c.2295G>A (p.Glu765=) rs966952897
NM_205836.3(FBXO38):c.22G>A (p.Val8Met) rs2531681833
NM_205836.3(FBXO38):c.2326T>C (p.Cys776Arg) rs1400525129
NM_205836.3(FBXO38):c.2331C>T (p.Cys777=) rs1027047013
NM_205836.3(FBXO38):c.2332T>C (p.Cys778Arg)
NM_205836.3(FBXO38):c.2340G>T (p.Arg780Ser) rs143193609
NM_205836.3(FBXO38):c.2341C>A (p.Pro781Thr) rs116266000
NM_205836.3(FBXO38):c.234A>G (p.Ala78=) rs2113522018
NM_205836.3(FBXO38):c.2362A>C (p.Thr788Pro) rs962189016
NM_205836.3(FBXO38):c.236G>T (p.Gly79Val)
NM_205836.3(FBXO38):c.2377G>A (p.Asp793Asn) rs761853191
NM_205836.3(FBXO38):c.2387G>A (p.Arg796His)
NM_205836.3(FBXO38):c.2402G>T (p.Arg801Leu) rs751618541
NM_205836.3(FBXO38):c.2407T>C (p.Cys803Arg) rs1161148986
NM_205836.3(FBXO38):c.2421C>G (p.Gly807=) rs1581281621
NM_205836.3(FBXO38):c.2425G>T (p.Asp809Tyr) rs2531812184
NM_205836.3(FBXO38):c.2426A>C (p.Asp809Ala) rs2531812192
NM_205836.3(FBXO38):c.2432C>G (p.Thr811Arg)
NM_205836.3(FBXO38):c.2432C>T (p.Thr811Met) rs540705586
NM_205836.3(FBXO38):c.2440G>A (p.Ala814Thr) rs201680339
NM_205836.3(FBXO38):c.2440G>T (p.Ala814Ser) rs201680339
NM_205836.3(FBXO38):c.247G>A (p.Glu83Lys) rs2531697664
NM_205836.3(FBXO38):c.262+7G>A rs2113522185
NM_205836.3(FBXO38):c.263-13C>G rs765793688
NM_205836.3(FBXO38):c.263-19A>G
NM_205836.3(FBXO38):c.263-8C>T rs2113531734
NM_205836.3(FBXO38):c.2663A>G (p.Lys888Arg)
NM_205836.3(FBXO38):c.2671C>T (p.Pro891Ser) rs2531833974
NM_205836.3(FBXO38):c.2714C>G (p.Thr905Ser) rs2531834375
NM_205836.3(FBXO38):c.2746C>T (p.His916Tyr) rs2113648332
NM_205836.3(FBXO38):c.274G>T (p.Ala92Ser) rs916170099
NM_205836.3(FBXO38):c.2754+12dup rs778971526
NM_205836.3(FBXO38):c.2754+13C>A rs370574839
NM_205836.3(FBXO38):c.2755-11T>A rs2113648657
NM_205836.3(FBXO38):c.2755G>A (p.Val919Ile) rs1554082512
NM_205836.3(FBXO38):c.2800A>T (p.Asn934Tyr) rs1250163654
NM_205836.3(FBXO38):c.2801A>G (p.Asn934Ser) rs1463668452
NM_205836.3(FBXO38):c.2818C>G (p.Leu940Val) rs1347172293
NM_205836.3(FBXO38):c.2857+13G>T rs2113649139
NM_205836.3(FBXO38):c.2857+17A>G
NM_205836.3(FBXO38):c.2857+21_2857+23del rs143121025
NM_205836.3(FBXO38):c.2858-15G>A
NM_205836.3(FBXO38):c.2858-20C>T
NM_205836.3(FBXO38):c.2858-9A>C rs2531852506
NM_205836.3(FBXO38):c.2904A>G (p.Pro968=) rs2113663254
NM_205836.3(FBXO38):c.2908G>T (p.Val970Leu) rs1754471311
NM_205836.3(FBXO38):c.2924A>G (p.Tyr975Cys) rs977679059
NM_205836.3(FBXO38):c.2947A>G (p.Met983Val)
NM_205836.3(FBXO38):c.2955G>A (p.Gln985=) rs2113663411
NM_205836.3(FBXO38):c.2964C>T (p.Asp988=) rs1581309185
NM_205836.3(FBXO38):c.2981C>T (p.Pro994Leu) rs2531853195
NM_205836.3(FBXO38):c.2982A>G (p.Pro994=)
NM_205836.3(FBXO38):c.2985C>G (p.Pro995=) rs144172824
NM_205836.3(FBXO38):c.2992A>G (p.Asn998Asp)
NM_205836.3(FBXO38):c.2993A>G (p.Asn998Ser) rs1293617168
NM_205836.3(FBXO38):c.2997C>T (p.Arg999=) rs1581309331
NM_205836.3(FBXO38):c.3025-18_3025-17del rs761503739
NM_205836.3(FBXO38):c.3025-18_3025-17insA rs2531858800
NM_205836.3(FBXO38):c.3032C>T (p.Thr1011Ile) rs1754559223
NM_205836.3(FBXO38):c.3051G>A (p.Lys1017=) rs1422351313
NM_205836.3(FBXO38):c.3066C>T (p.Pro1022=) rs895981912
NM_205836.3(FBXO38):c.3069C>T (p.Tyr1023=)
NM_205836.3(FBXO38):c.30A>G (p.Thr10=)
NM_205836.3(FBXO38):c.3105C>A (p.Asn1035Lys) rs1754563512
NM_205836.3(FBXO38):c.3131G>A (p.Arg1044His) rs1754565238
NM_205836.3(FBXO38):c.3136C>T (p.Arg1046Cys) rs778665975
NM_205836.3(FBXO38):c.3137G>A (p.Arg1046His) rs145142109
NM_205836.3(FBXO38):c.3140G>A (p.Ser1047Asn) rs1208732580
NM_205836.3(FBXO38):c.3152C>T (p.Thr1051Ile) rs745486539
NM_205836.3(FBXO38):c.3164T>C (p.Ile1055Thr) rs2531859624
NM_205836.3(FBXO38):c.3170+11_3170+12delinsCC rs2531859706
NM_205836.3(FBXO38):c.3170+9C>T
NM_205836.3(FBXO38):c.3177C>T (p.Leu1059=) rs1372897931
NM_205836.3(FBXO38):c.3210A>C (p.Arg1070=) rs1314412618
NM_205836.3(FBXO38):c.3212G>C (p.Ser1071Thr) rs1044917671
NM_205836.3(FBXO38):c.3216AGA[1] (p.Glu1073del) rs2531862190
NM_205836.3(FBXO38):c.3218A>T (p.Glu1073Val) rs1581313648
NM_205836.3(FBXO38):c.3223T>G (p.Leu1075Val) rs2531862252
NM_205836.3(FBXO38):c.3246C>T (p.Pro1082=) rs959005458
NM_205836.3(FBXO38):c.3264T>C (p.Tyr1088=) rs2531862455
NM_205836.3(FBXO38):c.3265A>C (p.Thr1089Pro) rs1049321456
NM_205836.3(FBXO38):c.326G>A (p.Gly109Asp) rs2113531978
NM_205836.3(FBXO38):c.3274+10T>C rs2531862551
NM_205836.3(FBXO38):c.3274+19T>G rs971847757
NM_205836.3(FBXO38):c.3274+4A>C rs1483446342
NM_205836.3(FBXO38):c.3274+4A>T rs1483446342
NM_205836.3(FBXO38):c.3275-20A>G
NM_205836.3(FBXO38):c.3284A>T (p.Asp1095Val) rs2531864955
NM_205836.3(FBXO38):c.3312C>T (p.Asp1104=) rs2113671150
NM_205836.3(FBXO38):c.3335G>A (p.Arg1112Gln) rs372096691
NM_205836.3(FBXO38):c.333C>T (p.His111=) rs2531708336
NM_205836.3(FBXO38):c.3357C>T (p.Phe1119=) rs577469242
NM_205836.3(FBXO38):c.3367G>A (p.Asp1123Asn) rs1399643647
NM_205836.3(FBXO38):c.3369C>T (p.Asp1123=) rs2113671331
NM_205836.3(FBXO38):c.337C>T (p.Arg113Ter) rs1306910725
NM_205836.3(FBXO38):c.3383A>G (p.Glu1128Gly) rs2531865437
NM_205836.3(FBXO38):c.3388+12C>A rs2113671439
NM_205836.3(FBXO38):c.3388+20A>C
NM_205836.3(FBXO38):c.3388+7A>G rs2113671422
NM_205836.3(FBXO38):c.3392C>G (p.Thr1131Ser) rs2531868515
NM_205836.3(FBXO38):c.341A>C (p.Tyr114Ser)
NM_205836.3(FBXO38):c.341A>G (p.Tyr114Cys) rs1433144114
NM_205836.3(FBXO38):c.3423G>C (p.Leu1141=) rs1754712234
NM_205836.3(FBXO38):c.3446C>T (p.Thr1149Ile) rs2113673143
NM_205836.3(FBXO38):c.345T>G (p.Leu115=) rs2531708395
NM_205836.3(FBXO38):c.3462T>G (p.Ile1154Met)
NM_205836.3(FBXO38):c.3473G>T (p.Arg1158Leu) rs754331887
NM_205836.3(FBXO38):c.34A>G (p.Ile12Val) rs1160174748
NM_205836.3(FBXO38):c.3500G>A (p.Arg1167Gln)
NM_205836.3(FBXO38):c.3519C>T (p.Ile1173=)
NM_205836.3(FBXO38):c.3528T>C (p.Cys1176=) rs1168641854
NM_205836.3(FBXO38):c.3547G>C (p.Val1183Leu) rs143682696
NM_205836.3(FBXO38):c.3555T>C (p.Asp1185=) rs2531869290
NM_205836.3(FBXO38):c.3558C>T (p.Asp1186=) rs2531869300
NM_205836.3(FBXO38):c.358G>T (p.Val120Leu) rs2113532084
NM_205836.3(FBXO38):c.373G>A (p.Ala125Thr) rs2531708500
NM_205836.3(FBXO38):c.396A>G (p.Leu132=) rs1752190334
NM_205836.3(FBXO38):c.401C>G (p.Ala134Gly)
NM_205836.3(FBXO38):c.405G>T (p.Leu135Phe) rs1296039801
NM_205836.3(FBXO38):c.417A>T (p.Pro139=)
NM_205836.3(FBXO38):c.418A>C (p.Asn140His)
NM_205836.3(FBXO38):c.418A>G (p.Asn140Asp)
NM_205836.3(FBXO38):c.432G>A (p.Val144=) rs911073783
NM_205836.3(FBXO38):c.448G>A (p.Glu150Lys) rs2531709819
NM_205836.3(FBXO38):c.451T>C (p.Leu151=) rs2113533109
NM_205836.3(FBXO38):c.469A>G (p.Thr157Ala)
NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter) rs2531709904
NM_205836.3(FBXO38):c.474T>A (p.Tyr158Ter) rs2113533186
NM_205836.3(FBXO38):c.474T>C (p.Tyr158=) rs2113533186
NM_205836.3(FBXO38):c.482A>G (p.His161Arg)
NM_205836.3(FBXO38):c.484G>T (p.Val162Phe) rs2113533252
NM_205836.3(FBXO38):c.497G>A (p.Gly166Glu) rs1404180680
NM_205836.3(FBXO38):c.505C>T (p.Arg169Cys) rs2531710069
NM_205836.3(FBXO38):c.512G>A (p.Arg171His) rs2531710164
NM_205836.3(FBXO38):c.51T>C (p.Ile17=) rs751405536
NM_205836.3(FBXO38):c.51T>G (p.Ile17Met)
NM_205836.3(FBXO38):c.52C>A (p.Pro18Thr)
NM_205836.3(FBXO38):c.534T>C (p.Pro178=) rs2531710277
NM_205836.3(FBXO38):c.560T>C (p.Ile187Thr) rs1470214468
NM_205836.3(FBXO38):c.592+9A>G rs1235333798
NM_205836.3(FBXO38):c.593-19T>G rs1216134708
NM_205836.3(FBXO38):c.606T>G (p.Pro202=) rs1322642858
NM_205836.3(FBXO38):c.613C>G (p.Pro205Ala)
NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg) rs398122838
NM_205836.3(FBXO38):c.617G>C (p.Cys206Ser) rs757064226
NM_205836.3(FBXO38):c.61A>G (p.Met21Val) rs1581225783
NM_205836.3(FBXO38):c.62T>C (p.Met21Thr) rs2531682074
NM_205836.3(FBXO38):c.633G>C (p.Arg211Ser) rs779718633
NM_205836.3(FBXO38):c.634C>T (p.His212Tyr) rs746462800
NM_205836.3(FBXO38):c.662C>A (p.Thr221Asn)
NM_205836.3(FBXO38):c.688C>A (p.Leu230Ile) rs763481232
NM_205836.3(FBXO38):c.688C>T (p.Leu230Phe)
NM_205836.3(FBXO38):c.703A>G (p.Arg235Gly) rs2531718755
NM_205836.3(FBXO38):c.705A>T (p.Arg235Ser)
NM_205836.3(FBXO38):c.707C>T (p.Thr236Ile) rs370799682
NM_205836.3(FBXO38):c.712G>A (p.Val238Ile) rs144890577
NM_205836.3(FBXO38):c.712G>C (p.Val238Leu) rs144890577
NM_205836.3(FBXO38):c.730+14A>G rs751540446
NM_205836.3(FBXO38):c.730+17A>G rs1336885695
NM_205836.3(FBXO38):c.730+8T>G rs2531718946
NM_205836.3(FBXO38):c.731-20A>C rs1162765033
NM_205836.3(FBXO38):c.731-5del
NM_205836.3(FBXO38):c.731-5dup rs201558003
NM_205836.3(FBXO38):c.731-6_731-5dup rs201558003
NM_205836.3(FBXO38):c.736A>T (p.Thr246Ser) rs1752440888
NM_205836.3(FBXO38):c.753T>C (p.Tyr251=) rs772089254
NM_205836.3(FBXO38):c.767C>T (p.Thr256Ile) rs2531724894
NM_205836.3(FBXO38):c.771C>T (p.Gly257=) rs1581244170
NM_205836.3(FBXO38):c.775G>A (p.Ala259Thr)
NM_205836.3(FBXO38):c.783C>T (p.Ala261=) rs764322313
NM_205836.3(FBXO38):c.786A>G (p.Arg262=) rs1457099766
NM_205836.3(FBXO38):c.789C>T (p.Asn263=) rs2113547963
NM_205836.3(FBXO38):c.798C>T (p.His266=) rs2113547993
NM_205836.3(FBXO38):c.79A>G (p.Lys27Glu)
NM_205836.3(FBXO38):c.811C>A (p.Arg271=) rs766246325
NM_205836.3(FBXO38):c.856A>G (p.Ser286Gly) rs1470476109
NM_205836.3(FBXO38):c.868+12_868+15del rs2113548210
NM_205836.3(FBXO38):c.868+15T>C
NM_205836.3(FBXO38):c.869-12C>A
NM_205836.3(FBXO38):c.880A>T (p.Asn294Tyr) rs1752601349
NM_205836.3(FBXO38):c.898C>A (p.Leu300Met)
NM_205836.3(FBXO38):c.898C>G (p.Leu300Val) rs889477496
NM_205836.3(FBXO38):c.911A>G (p.Lys304Arg) rs2531735155
NM_205836.3(FBXO38):c.919C>T (p.Leu307Phe) rs2531735215
NM_205836.3(FBXO38):c.926T>G (p.Val309Gly) rs1752606337
NM_205836.3(FBXO38):c.92A>G (p.Asn31Ser)
NM_205836.3(FBXO38):c.933T>G (p.Leu311=) rs1393726735
NM_205836.3(FBXO38):c.938A>C (p.Tyr313Ser)
NM_205836.3(FBXO38):c.962+20T>C rs2113558593
NM_205836.3(FBXO38):c.977G>A (p.Arg326Gln)
NM_205836.3(FBXO38):c.981C>G (p.Ile327Met) rs753301882

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