ClinVar Miner

List of variants in gene KBTBD13 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 610
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001101362.3(KBTBD13):c.1200T>C (p.Gly400=) rs2919360 0.99001
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=) rs2919359 0.86820
NM_001101362.3(KBTBD13):c.*305C>T rs2946643 0.85557
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val) rs2919358 0.46622
NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=) rs2946642 0.45129
NM_001101362.3(KBTBD13):c.*122T>C rs12901617 0.41689
NM_001101362.3(KBTBD13):c.*897A>G rs12905499 0.40070
NM_001101362.3(KBTBD13):c.*520A>G rs12904843 0.36673
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=) rs116623596 0.01793
NM_001101362.3(KBTBD13):c.*1611G>A rs16948496 0.01149
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=) rs150830358 0.01081
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=) rs115182478 0.00729
NM_001101362.3(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369 0.00642
NM_001101362.3(KBTBD13):c.*222G>A rs114112578 0.00410
NM_001101362.3(KBTBD13):c.*1075C>T rs75894955 0.00380
NM_001101362.3(KBTBD13):c.*995T>C rs146228424 0.00305
NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272 0.00305
NM_001101362.3(KBTBD13):c.*1650T>C rs142046728 0.00304
NM_001101362.3(KBTBD13):c.*1499T>C rs117320020 0.00275
NM_001101362.3(KBTBD13):c.*1122C>T rs111801368 0.00252
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=) rs368781046 0.00246
NM_001101362.3(KBTBD13):c.*1556G>A rs148606250 0.00226
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001101362.3(KBTBD13):c.115G>C (p.Gly39Arg) rs201420126 0.00223
NM_001101362.3(KBTBD13):c.214C>T (p.Leu72=) rs550537101 0.00205
NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658 0.00175
NM_001101362.3(KBTBD13):c.1119C>T (p.Asn373=) rs201760548 0.00109
NM_001101362.3(KBTBD13):c.981C>G (p.Thr327=) rs184130258 0.00106
NM_001101362.3(KBTBD13):c.117C>T (p.Gly39=) rs367684457 0.00105
NM_001101362.3(KBTBD13):c.171T>C (p.Gly57=) rs369379657 0.00078
NM_001101362.3(KBTBD13):c.815T>A (p.Ile272Asn) rs558291810 0.00056
NM_001101362.3(KBTBD13):c.189G>A (p.Gln63=) rs777062916 0.00044
NM_001101362.3(KBTBD13):c.7C>T (p.Arg3Trp) rs766815771 0.00041
NM_001101362.3(KBTBD13):c.795C>T (p.Gly265=) rs577503698 0.00038
NM_001101362.3(KBTBD13):c.963G>A (p.Val321=) rs548699720 0.00036
NM_001101362.3(KBTBD13):c.*1582C>T rs111882334 0.00035
NM_001101362.3(KBTBD13):c.205C>T (p.Arg69Trp) rs530722554 0.00034
NM_001101362.3(KBTBD13):c.1264C>T (p.Arg422Trp) rs370691794 0.00032
NM_001101362.3(KBTBD13):c.471C>T (p.Tyr157=) rs550724858 0.00032
NM_001101362.3(KBTBD13):c.*684C>T rs549339931 0.00025
NM_001101362.3(KBTBD13):c.*403C>A rs748599461 0.00023
NM_001101362.3(KBTBD13):c.880C>G (p.Pro294Ala) rs560695692 0.00023
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His) rs568675071 0.00020
NM_001101362.3(KBTBD13):c.1372C>T (p.Leu458=) rs959915743 0.00019
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 0.00019
NM_001101362.3(KBTBD13):c.1305C>T (p.Ser435=) rs777830269 0.00018
NM_001101362.3(KBTBD13):c.*41C>T rs185053492 0.00016
NM_001101362.3(KBTBD13):c.247G>C (p.Glu83Gln) rs781438362 0.00016
NM_001101362.3(KBTBD13):c.411G>A (p.Ala137=) rs944865368 0.00016
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371 0.00016
NM_001101362.3(KBTBD13):c.958G>T (p.Val320Leu) rs367648853 0.00016
NM_001101362.3(KBTBD13):c.272C>A (p.Pro91Gln) rs773454367 0.00015
NM_001101362.3(KBTBD13):c.1232C>T (p.Thr411Met) rs372826347 0.00014
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171 0.00014
NM_001101362.3(KBTBD13):c.393C>A (p.Asp131Glu) rs544721592 0.00013
NM_001101362.3(KBTBD13):c.58G>C (p.Ala20Pro) rs749605981 0.00013
NM_001101362.3(KBTBD13):c.882G>A (p.Pro294=) rs767222138 0.00013
NM_001101362.3(KBTBD13):c.1086C>T (p.Asp362=) rs367745880 0.00012
NM_001101362.3(KBTBD13):c.382T>C (p.Phe128Leu) rs572875121 0.00012
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser) rs377071831 0.00011
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg) rs374196960 0.00011
NM_001101362.3(KBTBD13):c.881C>T (p.Pro294Leu) rs754870477 0.00011
NM_001101362.3(KBTBD13):c.359del (p.Asp120fs) rs903604256 0.00010
NM_001101362.3(KBTBD13):c.477C>G (p.Ala159=) rs1052175397 0.00010
NM_001101362.3(KBTBD13):c.1214C>T (p.Thr405Met) rs760429732 0.00009
NM_001101362.3(KBTBD13):c.436C>A (p.Arg146Ser) rs922207893 0.00008
NM_001101362.3(KBTBD13):c.670G>A (p.Val224Met) rs377035059 0.00008
NM_001101362.3(KBTBD13):c.*174G>A rs983773942 0.00007
NM_001101362.3(KBTBD13):c.*699G>A rs142860231 0.00007
NM_001101362.3(KBTBD13):c.1038G>T (p.Met346Ile) rs770377239 0.00007
NM_001101362.3(KBTBD13):c.831C>G (p.Arg277=) rs781249514 0.00007
NM_001101362.3(KBTBD13):c.833A>T (p.Tyr278Phe) rs748032183 0.00007
NM_001101362.3(KBTBD13):c.1107C>G (p.Ile369Met) rs757616268 0.00006
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala) rs755775428 0.00006
NM_001101362.3(KBTBD13):c.305C>A (p.Thr102Lys) rs1321779623 0.00006
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser) rs779819069 0.00006
NM_001101362.3(KBTBD13):c.876G>A (p.Pro292=) rs543905658 0.00006
NM_001101362.3(KBTBD13):c.891C>T (p.Gly297=) rs756802075 0.00006
NM_001101362.3(KBTBD13):c.1061A>G (p.Tyr354Cys) rs778125325 0.00005
NM_001101362.3(KBTBD13):c.1333C>T (p.Pro445Ser) rs778885479 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001101362.3(KBTBD13):c.812C>T (p.Pro271Leu) rs944158562 0.00005
NM_001101362.3(KBTBD13):c.85T>C (p.Cys29Arg) rs1332816332 0.00005
NM_001101362.3(KBTBD13):c.947A>C (p.Asp316Ala) rs1021462149 0.00005
NM_001101362.3(KBTBD13):c.*1276G>T rs886051344 0.00004
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met) rs758995387 0.00004
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=) rs376673920 0.00004
NM_001101362.3(KBTBD13):c.243C>T (p.Ala81=) rs536164662 0.00004
NM_001101362.3(KBTBD13):c.261C>T (p.Phe87=) rs770172865 0.00004
NM_001101362.3(KBTBD13):c.276G>C (p.Ala92=) rs566529505 0.00004
NM_001101362.3(KBTBD13):c.483C>A (p.Ser161Arg) rs1464339145 0.00004
NM_001101362.3(KBTBD13):c.499C>G (p.Pro167Ala) rs749520412 0.00004
NM_001101362.3(KBTBD13):c.609G>A (p.Gly203=) rs755363956 0.00004
NM_001101362.3(KBTBD13):c.977G>A (p.Arg326Gln) rs779729198 0.00004
NM_001101362.3(KBTBD13):c.1346G>T (p.Gly449Val) rs1216666979 0.00003
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu) rs777431652 0.00003
NM_001101362.3(KBTBD13):c.230A>G (p.Glu77Gly) rs1384295949 0.00003
NM_001101362.3(KBTBD13):c.240G>T (p.Gln80His) rs1040368554 0.00003
NM_001101362.3(KBTBD13):c.24G>A (p.Leu8=) rs753529968 0.00003
NM_001101362.3(KBTBD13):c.289C>T (p.Leu97=) rs970032872 0.00003
NM_001101362.3(KBTBD13):c.329G>A (p.Cys110Tyr) rs1479308750 0.00003
NM_001101362.3(KBTBD13):c.358G>A (p.Asp120Asn) rs1403660333 0.00003
NM_001101362.3(KBTBD13):c.558G>C (p.Ala186=) rs775940623 0.00003
NM_001101362.3(KBTBD13):c.75G>C (p.Leu25=) rs1189278227 0.00003
NM_001101362.3(KBTBD13):c.768C>T (p.Phe256=) rs758252719 0.00003
NM_001101362.3(KBTBD13):c.810G>C (p.Thr270=) rs912566376 0.00003
NM_001101362.3(KBTBD13):c.861C>T (p.Phe287=) rs777259450 0.00003
NM_001101362.3(KBTBD13):c.888C>T (p.Ala296=) rs529828976 0.00003
NM_001101362.3(KBTBD13):c.900C>T (p.Cys300=) rs778682102 0.00003
NM_001101362.3(KBTBD13):c.921C>T (p.Leu307=) rs773691737 0.00003
NM_001101362.3(KBTBD13):c.937C>T (p.Arg313Trp) rs1177976401 0.00003
NM_001101362.3(KBTBD13):c.*1421C>T rs374389911 0.00002
NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp) rs544519051 0.00002
NM_001101362.3(KBTBD13):c.1028_1032del (p.Gly343fs) rs774779148 0.00002
NM_001101362.3(KBTBD13):c.1185G>C (p.Thr395=) rs747137052 0.00002
NM_001101362.3(KBTBD13):c.11G>A (p.Gly4Asp) rs1228459718 0.00002
NM_001101362.3(KBTBD13):c.1218C>T (p.Val406=) rs774247348 0.00002
NM_001101362.3(KBTBD13):c.1226T>C (p.Met409Thr) rs767005954 0.00002
NM_001101362.3(KBTBD13):c.1337G>C (p.Gly446Ala) rs976528181 0.00002
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001101362.3(KBTBD13):c.375C>G (p.Ala125=) rs540939027 0.00002
NM_001101362.3(KBTBD13):c.375C>T (p.Ala125=) rs540939027 0.00002
NM_001101362.3(KBTBD13):c.412G>A (p.Ala138Thr) rs1338140080 0.00002
NM_001101362.3(KBTBD13):c.434C>G (p.Ala145Gly) rs1205418680 0.00002
NM_001101362.3(KBTBD13):c.451G>A (p.Ala151Thr) rs1167697962 0.00002
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu) rs760224608 0.00002
NM_001101362.3(KBTBD13):c.79G>A (p.Glu27Lys) rs760809346 0.00002
NM_001101362.3(KBTBD13):c.874C>T (p.Pro292Ser) rs765686080 0.00002
NM_001101362.3(KBTBD13):c.985G>C (p.Ala329Pro) rs1158844505 0.00002
NM_001101362.3(KBTBD13):c.*1112C>T rs886051342 0.00001
NM_001101362.3(KBTBD13):c.*380A>G rs932464244 0.00001
NM_001101362.3(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223 0.00001
NM_001101362.3(KBTBD13):c.1016C>T (p.Pro339Leu) rs772222290 0.00001
NM_001101362.3(KBTBD13):c.1048C>A (p.Arg350Ser) rs779744493 0.00001
NM_001101362.3(KBTBD13):c.1051G>T (p.Asp351Tyr) rs539760679 0.00001
NM_001101362.3(KBTBD13):c.1060T>C (p.Tyr354His) rs1215359382 0.00001
NM_001101362.3(KBTBD13):c.1105A>G (p.Ile369Val) rs780785524 0.00001
NM_001101362.3(KBTBD13):c.1112G>C (p.Cys371Ser) rs1019923438 0.00001
NM_001101362.3(KBTBD13):c.1126A>C (p.Thr376Pro) rs1048233904 0.00001
NM_001101362.3(KBTBD13):c.1129G>A (p.Gly377Ser) rs1322919655 0.00001
NM_001101362.3(KBTBD13):c.1133A>G (p.Gln378Arg) rs769042275 0.00001
NM_001101362.3(KBTBD13):c.1189G>A (p.Val397Met) rs1299910198 0.00001
NM_001101362.3(KBTBD13):c.121C>T (p.Arg41Trp) rs775442274 0.00001
NM_001101362.3(KBTBD13):c.1220A>G (p.Asn407Ser) rs1457792778 0.00001
NM_001101362.3(KBTBD13):c.122G>A (p.Arg41Gln) rs760757402 0.00001
NM_001101362.3(KBTBD13):c.1242C>T (p.Tyr414=) rs186889885 0.00001
NM_001101362.3(KBTBD13):c.1248C>G (p.Ile416Met) rs1291680168 0.00001
NM_001101362.3(KBTBD13):c.1265G>A (p.Arg422Gln) rs767053257 0.00001
NM_001101362.3(KBTBD13):c.1291C>T (p.Pro431Ser) rs755476256 0.00001
NM_001101362.3(KBTBD13):c.1294C>T (p.Arg432Trp) rs1376646798 0.00001
NM_001101362.3(KBTBD13):c.131G>C (p.Arg44Pro) rs765124692 0.00001
NM_001101362.3(KBTBD13):c.132C>T (p.Arg44=) rs1379997853 0.00001
NM_001101362.3(KBTBD13):c.1331C>T (p.Pro444Leu) rs1301827044 0.00001
NM_001101362.3(KBTBD13):c.1341T>C (p.Ala447=) rs1298809117 0.00001
NM_001101362.3(KBTBD13):c.1362A>C (p.Thr454=) rs548640037 0.00001
NM_001101362.3(KBTBD13):c.154G>A (p.Val52Ile) rs1268655819 0.00001
NM_001101362.3(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635 0.00001
NM_001101362.3(KBTBD13):c.167G>A (p.Gly56Glu) rs1242559901 0.00001
NM_001101362.3(KBTBD13):c.16C>G (p.Gln6Glu) rs752840796 0.00001
NM_001101362.3(KBTBD13):c.206G>A (p.Arg69Gln) rs762769253 0.00001
NM_001101362.3(KBTBD13):c.210G>A (p.Pro70=) rs751494294 0.00001
NM_001101362.3(KBTBD13):c.222G>A (p.Ala74=) rs752135049 0.00001
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=) rs886051334 0.00001
NM_001101362.3(KBTBD13):c.266A>G (p.Gln89Arg) rs1460367454 0.00001
NM_001101362.3(KBTBD13):c.285C>T (p.Arg95=) rs1175552889 0.00001
NM_001101362.3(KBTBD13):c.291G>A (p.Leu97=) rs914591905 0.00001
NM_001101362.3(KBTBD13):c.309G>A (p.Ser103=) rs760134475 0.00001
NM_001101362.3(KBTBD13):c.319G>A (p.Ala107Thr) rs944999468 0.00001
NM_001101362.3(KBTBD13):c.348C>T (p.Phe116=) rs1222501717 0.00001
NM_001101362.3(KBTBD13):c.367C>T (p.His123Tyr) rs1013537691 0.00001
NM_001101362.3(KBTBD13):c.376G>A (p.Ala126Thr) rs1424500883 0.00001
NM_001101362.3(KBTBD13):c.396C>G (p.Gly132=) rs1232211104 0.00001
NM_001101362.3(KBTBD13):c.44G>A (p.Gly15Asp) rs746640081 0.00001
NM_001101362.3(KBTBD13):c.485C>T (p.Thr162Met) rs1269389678 0.00001
NM_001101362.3(KBTBD13):c.491C>G (p.Thr164Arg) rs1404956647 0.00001
NM_001101362.3(KBTBD13):c.511G>A (p.Glu171Lys) rs1485601321 0.00001
NM_001101362.3(KBTBD13):c.523C>T (p.Arg175Cys) rs1257424632 0.00001
NM_001101362.3(KBTBD13):c.542A>C (p.Asp181Ala) rs1386416146 0.00001
NM_001101362.3(KBTBD13):c.557C>T (p.Ala186Val) rs1435148449 0.00001
NM_001101362.3(KBTBD13):c.576G>C (p.Ala192=) rs1490959556 0.00001
NM_001101362.3(KBTBD13):c.588G>A (p.Glu196=) rs2086991061 0.00001
NM_001101362.3(KBTBD13):c.601C>T (p.Leu201=) rs1364669643 0.00001
NM_001101362.3(KBTBD13):c.606C>T (p.Ala202=) rs752006739 0.00001
NM_001101362.3(KBTBD13):c.607G>C (p.Gly203Arg) rs944113571 0.00001
NM_001101362.3(KBTBD13):c.632T>A (p.Leu211His) rs924967048 0.00001
NM_001101362.3(KBTBD13):c.646G>A (p.Gly216Ser) rs1052506752 0.00001
NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met) rs555158930 0.00001
NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly) rs1193653136 0.00001
NM_001101362.3(KBTBD13):c.666G>C (p.Lys222Asn) rs745699550 0.00001
NM_001101362.3(KBTBD13):c.677A>G (p.Glu226Gly) rs1339316249 0.00001
NM_001101362.3(KBTBD13):c.739C>A (p.Pro247Thr) rs1187855959 0.00001
NM_001101362.3(KBTBD13):c.757C>T (p.Leu253=) rs750627612 0.00001
NM_001101362.3(KBTBD13):c.775C>T (p.Arg259Cys) rs780964425 0.00001
NM_001101362.3(KBTBD13):c.778C>T (p.Leu260Phe) rs769416249 0.00001
NM_001101362.3(KBTBD13):c.793G>A (p.Gly265Ser) rs764697405 0.00001
NM_001101362.3(KBTBD13):c.811C>G (p.Pro271Ala) rs1436431809 0.00001
NM_001101362.3(KBTBD13):c.82C>T (p.His28Tyr) rs2086976630 0.00001
NM_001101362.3(KBTBD13):c.834C>T (p.Tyr278=) rs769789834 0.00001
NM_001101362.3(KBTBD13):c.844G>A (p.Ala282Thr) rs375482474 0.00001
NM_001101362.3(KBTBD13):c.853T>C (p.Trp285Arg) rs768886246 0.00001
NM_001101362.3(KBTBD13):c.862G>C (p.Val288Leu) rs762309788 0.00001
NM_001101362.3(KBTBD13):c.867C>G (p.Ala289=) rs1057524136 0.00001
NM_001101362.3(KBTBD13):c.892G>A (p.Val298Met) rs1002641714 0.00001
NM_001101362.3(KBTBD13):c.8G>A (p.Arg3Gln) rs759494469 0.00001
NM_001101362.3(KBTBD13):c.901G>A (p.Ala301Thr) rs540070816 0.00001
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser) rs540070816 0.00001
NM_001101362.3(KBTBD13):c.914G>A (p.Gly305Asp) rs2086998690 0.00001
NM_001101362.3(KBTBD13):c.916C>T (p.Arg306Cys) rs748475145 0.00001
NM_001101362.3(KBTBD13):c.984C>T (p.Asp328=) rs1477394894 0.00001
NC_000015.9:g.(?_65369154)_(65370530_?)dup
NM_001101362.3(KBTBD13):c.*1306T>G rs541447859
NM_001101362.3(KBTBD13):c.*1323A>T rs992471402
NM_001101362.3(KBTBD13):c.*1514T>C rs189406063
NM_001101362.3(KBTBD13):c.*33C>T rs886051336
NM_001101362.3(KBTBD13):c.*71C>T rs886051337
NM_001101362.3(KBTBD13):c.*846G>C rs17804968
NM_001101362.3(KBTBD13):c.*846G>T rs17804968
NM_001101362.3(KBTBD13):c.-20_265del (p.Met1_Gln89del) rs2086974277
NM_001101362.3(KBTBD13):c.1001C>A (p.Ala334Asp)
NM_001101362.3(KBTBD13):c.1001C>T (p.Ala334Val) rs200804273
NM_001101362.3(KBTBD13):c.1002C>G (p.Ala334=)
NM_001101362.3(KBTBD13):c.1002C>T (p.Ala334=)
NM_001101362.3(KBTBD13):c.1003G>A (p.Glu335Lys)
NM_001101362.3(KBTBD13):c.1005_1006delinsAA (p.Leu336Met) rs2140545326
NM_001101362.3(KBTBD13):c.1006C>A (p.Leu336Met) rs1131691634
NM_001101362.3(KBTBD13):c.1006C>G (p.Leu336Val) rs1131691634
NM_001101362.3(KBTBD13):c.100G>A (p.Gly34Ser)
NM_001101362.3(KBTBD13):c.1012C>T (p.Arg338Cys)
NM_001101362.3(KBTBD13):c.1019A>C (p.Gln340Pro)
NM_001101362.3(KBTBD13):c.1020G>C (p.Gln340His)
NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)
NM_001101362.3(KBTBD13):c.1026T>G (p.Tyr342Ter) rs760601340
NM_001101362.3(KBTBD13):c.1029C>T (p.Gly343=) rs940307766
NM_001101362.3(KBTBD13):c.1034G>C (p.Cys345Ser)
NM_001101362.3(KBTBD13):c.103C>T (p.Leu35Phe)
NM_001101362.3(KBTBD13):c.1042del (p.Ala348fs) rs760102500
NM_001101362.3(KBTBD13):c.1044C>G (p.Ala348=)
NM_001101362.3(KBTBD13):c.1047C>T (p.His349=)
NM_001101362.3(KBTBD13):c.1048C>G (p.Arg350Gly) rs779744493
NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys)
NM_001101362.3(KBTBD13):c.1050C>T (p.Arg350=)
NM_001101362.3(KBTBD13):c.1066G>C (p.Val356Leu)
NM_001101362.3(KBTBD13):c.1069C>T (p.Arg357Cys)
NM_001101362.3(KBTBD13):c.1070G>T (p.Arg357Leu) rs1456044134
NM_001101362.3(KBTBD13):c.1075G>A (p.Gly359Arg)
NM_001101362.3(KBTBD13):c.1080T>A (p.Pro360=)
NM_001101362.3(KBTBD13):c.1083C>G (p.Ser361=) rs760978865
NM_001101362.3(KBTBD13):c.1089C>T (p.Asp363=)
NM_001101362.3(KBTBD13):c.1101C>T (p.Cys367=) rs543844534
NM_001101362.3(KBTBD13):c.1108G>C (p.Asp370His) rs779342567
NM_001101362.3(KBTBD13):c.110_111delinsAG (p.Arg37Gln)
NM_001101362.3(KBTBD13):c.110_112dup (p.Arg37_Ser38insCys)
NM_001101362.3(KBTBD13):c.1122G>A (p.Leu374=)
NM_001101362.3(KBTBD13):c.1139C>T (p.Thr380Met) rs769627742
NM_001101362.3(KBTBD13):c.113C>G (p.Ser38Cys)
NM_001101362.3(KBTBD13):c.114C>T (p.Ser38=) rs771263021
NM_001101362.3(KBTBD13):c.1150G>A (p.Gly384Ser)
NM_001101362.3(KBTBD13):c.1158C>G (p.Phe386Leu)
NM_001101362.3(KBTBD13):c.115G>T (p.Gly39Cys) rs201420126
NM_001101362.3(KBTBD13):c.1163A>G (p.Asn388Ser) rs2087004754
NM_001101362.3(KBTBD13):c.1166G>A (p.Ser389Asn)
NM_001101362.3(KBTBD13):c.1170G>C (p.Lys390Asn) rs1364598710
NM_001101362.3(KBTBD13):c.1170G>T (p.Lys390Asn)
NM_001101362.3(KBTBD13):c.1171G>A (p.Gly391Arg)
NM_001101362.3(KBTBD13):c.1175C>T (p.Ala392Val) rs1296754906
NM_001101362.3(KBTBD13):c.1183A>C (p.Thr395Pro) rs2087005220
NM_001101362.3(KBTBD13):c.1184C>G (p.Thr395Arg) rs758995387
NM_001101362.3(KBTBD13):c.1187C>T (p.Ala396Val)
NM_001101362.3(KBTBD13):c.118A>G (p.Met40Val) rs1479237002
NM_001101362.3(KBTBD13):c.1196G>A (p.Arg399His)
NM_001101362.3(KBTBD13):c.1205_1206insGCACTATAC (p.Thr402_Val403insHisTyrThr) rs2087006011
NM_001101362.3(KBTBD13):c.1206C>A (p.Thr402=)
NM_001101362.3(KBTBD13):c.1206C>G (p.Thr402=) rs2087006106
NM_001101362.3(KBTBD13):c.1206C>T (p.Thr402=) rs2087006106
NM_001101362.3(KBTBD13):c.1209C>G (p.Val403=)
NM_001101362.3(KBTBD13):c.121C>A (p.Arg41=)
NM_001101362.3(KBTBD13):c.1222C>T (p.Arg408Cys) rs387907090
NM_001101362.3(KBTBD13):c.1222dup (p.Arg408fs)
NM_001101362.3(KBTBD13):c.1225A>C (p.Met409Leu)
NM_001101362.3(KBTBD13):c.1233G>A (p.Thr411=)
NM_001101362.3(KBTBD13):c.1240T>C (p.Tyr414His) rs1555407759
NM_001101362.3(KBTBD13):c.1241A>G (p.Tyr414Cys) rs2140545943
NM_001101362.3(KBTBD13):c.1249G>C (p.Glu417Gln)
NM_001101362.3(KBTBD13):c.1250A>T (p.Glu417Val)
NM_001101362.3(KBTBD13):c.1260C>T (p.Thr420=) rs1177062291
NM_001101362.3(KBTBD13):c.1264C>A (p.Arg422=)
NM_001101362.3(KBTBD13):c.1269G>A (p.Leu423=)
NM_001101362.3(KBTBD13):c.1274G>C (p.Arg425Thr)
NM_001101362.3(KBTBD13):c.1292C>T (p.Pro431Leu)
NM_001101362.3(KBTBD13):c.1294C>A (p.Arg432=) rs1376646798
NM_001101362.3(KBTBD13):c.1297C>T (p.Pro433Ser) rs1555407773
NM_001101362.3(KBTBD13):c.1299C>T (p.Pro433=)
NM_001101362.3(KBTBD13):c.1304C>T (p.Ser435Phe)
NM_001101362.3(KBTBD13):c.1307T>A (p.Leu436Ter) rs2140546093
NM_001101362.3(KBTBD13):c.1309C>G (p.Gln437Glu) rs749128043
NM_001101362.3(KBTBD13):c.1310A>G (p.Gln437Arg)
NM_001101362.3(KBTBD13):c.1318C>T (p.Leu440Phe)
NM_001101362.3(KBTBD13):c.1322T>A (p.Leu441Gln)
NM_001101362.3(KBTBD13):c.1323A>C (p.Leu441=) rs2140546127
NM_001101362.3(KBTBD13):c.1334C>A (p.Pro445His) rs192406963
NM_001101362.3(KBTBD13):c.1338C>T (p.Gly446=)
NM_001101362.3(KBTBD13):c.133G>T (p.Ala45Ser)
NM_001101362.3(KBTBD13):c.1356T>G (p.Thr452=)
NM_001101362.3(KBTBD13):c.1358C>G (p.Ser453Trp)
NM_001101362.3(KBTBD13):c.1358C>T (p.Ser453Leu) rs753712072
NM_001101362.3(KBTBD13):c.1361C>T (p.Thr454Ile)
NM_001101362.3(KBTBD13):c.1365G>C (p.Thr455=)
NM_001101362.3(KBTBD13):c.1366del (p.Ala456fs)
NM_001101362.3(KBTBD13):c.136G>C (p.Ala46Pro)
NM_001101362.3(KBTBD13):c.1373T>C (p.Leu458Pro) rs2140546272
NM_001101362.3(KBTBD13):c.1376G>A (p.Ter459=)
NM_001101362.3(KBTBD13):c.138A>C (p.Ala46=)
NM_001101362.3(KBTBD13):c.139G>A (p.Glu47Lys)
NM_001101362.3(KBTBD13):c.13C>G (p.Pro5Ala) rs2086975088
NM_001101362.3(KBTBD13):c.140A>G (p.Glu47Gly)
NM_001101362.3(KBTBD13):c.141G>A (p.Glu47=)
NM_001101362.3(KBTBD13):c.142G>T (p.Val48Leu)
NM_001101362.3(KBTBD13):c.143T>C (p.Val48Ala)
NM_001101362.3(KBTBD13):c.145C>T (p.Arg49Cys)
NM_001101362.3(KBTBD13):c.146G>C (p.Arg49Pro)
NM_001101362.3(KBTBD13):c.146G>T (p.Arg49Leu) rs1027726798
NM_001101362.3(KBTBD13):c.152G>C (p.Gly51Ala)
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=) rs1162054356
NM_001101362.3(KBTBD13):c.164C>T (p.Ala55Val) rs757684085
NM_001101362.3(KBTBD13):c.165G>A (p.Ala55=)
NM_001101362.3(KBTBD13):c.165G>C (p.Ala55=) rs779148387
NM_001101362.3(KBTBD13):c.166G>A (p.Gly56Arg)
NM_001101362.3(KBTBD13):c.168A>C (p.Gly56=) rs1339755233
NM_001101362.3(KBTBD13):c.170del (p.Gly57fs) rs1555407559
NM_001101362.3(KBTBD13):c.172_191del (p.Phe58fs) rs778782105
NM_001101362.3(KBTBD13):c.174C>A (p.Phe58Leu)
NM_001101362.3(KBTBD13):c.175C>G (p.Arg59Gly)
NM_001101362.3(KBTBD13):c.175C>T (p.Arg59Cys) rs1406748219
NM_001101362.3(KBTBD13):c.176G>A (p.Arg59His)
NM_001101362.3(KBTBD13):c.176_177delinsAG (p.Arg59Gln)
NM_001101362.3(KBTBD13):c.178G>C (p.Ala60Pro)
NM_001101362.3(KBTBD13):c.179C>A (p.Ala60Asp)
NM_001101362.3(KBTBD13):c.182C>T (p.Thr61Met)
NM_001101362.3(KBTBD13):c.185T>C (p.Leu62Pro) rs907742667
NM_001101362.3(KBTBD13):c.191T>G (p.Val64Gly)
NM_001101362.3(KBTBD13):c.194T>C (p.Leu65Pro)
NM_001101362.3(KBTBD13):c.195G>A (p.Leu65=)
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) rs939242678
NM_001101362.3(KBTBD13):c.198C>A (p.Arg66=) rs1265388791
NM_001101362.3(KBTBD13):c.199G>A (p.Gly67Ser)
NM_001101362.3(KBTBD13):c.199G>C (p.Gly67Arg) rs770087291
NM_001101362.3(KBTBD13):c.19A>C (p.Thr7Pro)
NM_001101362.3(KBTBD13):c.204C>T (p.Asp68=)
NM_001101362.3(KBTBD13):c.205C>G (p.Arg69Gly)
NM_001101362.3(KBTBD13):c.206G>C (p.Arg69Pro)
NM_001101362.3(KBTBD13):c.209C>G (p.Pro70Arg) rs766269932
NM_001101362.3(KBTBD13):c.209C>T (p.Pro70Leu) rs766269932
NM_001101362.3(KBTBD13):c.212C>A (p.Ala71Glu)
NM_001101362.3(KBTBD13):c.212C>G (p.Ala71Gly)
NM_001101362.3(KBTBD13):c.217G>A (p.Ala73Thr) rs1313295854
NM_001101362.3(KBTBD13):c.218C>A (p.Ala73Glu)
NM_001101362.3(KBTBD13):c.219G>A (p.Ala73=) rs868363260
NM_001101362.3(KBTBD13):c.21C>T (p.Thr7=)
NM_001101362.3(KBTBD13):c.221C>G (p.Ala74Gly)
NM_001101362.3(KBTBD13):c.223del (p.Glu75fs)
NM_001101362.3(KBTBD13):c.225G>A (p.Glu75=)
NM_001101362.3(KBTBD13):c.225G>C (p.Glu75Asp)
NM_001101362.3(KBTBD13):c.226G>A (p.Asp76Asn) rs1258831129
NM_001101362.3(KBTBD13):c.229G>C (p.Glu77Gln)
NM_001101362.3(KBTBD13):c.229G>T (p.Glu77Ter)
NM_001101362.3(KBTBD13):c.229_271dup (p.Pro91fs) rs1401828622
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.3(KBTBD13):c.23T>C (p.Leu8Pro)
NM_001101362.3(KBTBD13):c.23T>G (p.Leu8Arg)
NM_001101362.3(KBTBD13):c.241_242insTCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGG (p.Gln80_Ala81insValValGluCysAlaAlaPheLeuGlnAlaProAlaLeuAlaAlaGluAspGluLeuLeuGln)
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.3(KBTBD13):c.245T>A (p.Val82Glu)
NM_001101362.3(KBTBD13):c.247G>T (p.Glu83Ter) rs781438362
NM_001101362.3(KBTBD13):c.253G>A (p.Ala85Thr) rs1595912432
NM_001101362.3(KBTBD13):c.257C>A (p.Ala86Asp)
NM_001101362.3(KBTBD13):c.25G>T (p.Val9Leu)
NM_001101362.3(KBTBD13):c.261C>A (p.Phe87Leu)
NM_001101362.3(KBTBD13):c.263T>A (p.Leu88His)
NM_001101362.3(KBTBD13):c.269C>T (p.Ala90Val)
NM_001101362.3(KBTBD13):c.272_286dup (p.Arg95_Phe96insSerAlaLeuAlaArg)
NM_001101362.3(KBTBD13):c.277C>T (p.Leu93=) rs1176522700
NM_001101362.3(KBTBD13):c.27G>A (p.Val9=)
NM_001101362.3(KBTBD13):c.283C>T (p.Arg95Cys)
NM_001101362.3(KBTBD13):c.284G>C (p.Arg95Pro) rs1160768354
NM_001101362.3(KBTBD13):c.288T>C (p.Phe96=) rs759474251
NM_001101362.3(KBTBD13):c.288T>G (p.Phe96Leu) rs759474251
NM_001101362.3(KBTBD13):c.291G>C (p.Leu97=)
NM_001101362.3(KBTBD13):c.292G>A (p.Glu98Lys) rs752222694
NM_001101362.3(KBTBD13):c.292G>C (p.Glu98Gln)
NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter)
NM_001101362.3(KBTBD13):c.293A>T (p.Glu98Val) rs930704522
NM_001101362.3(KBTBD13):c.308C>T (p.Ser103Leu) rs1235549563
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) rs760134475
NM_001101362.3(KBTBD13):c.314A>T (p.Asn105Ile) rs2086983386
NM_001101362.3(KBTBD13):c.315C>T (p.Asn105=)
NM_001101362.3(KBTBD13):c.318C>T (p.Cys106=) rs1217296620
NM_001101362.3(KBTBD13):c.31G>A (p.Val11Met)
NM_001101362.3(KBTBD13):c.320C>G (p.Ala107Gly) rs1264692363
NM_001101362.3(KBTBD13):c.325C>T (p.Leu109=) rs2086983618
NM_001101362.3(KBTBD13):c.325_327dup (p.Leu109_Cys110insLeu)
NM_001101362.3(KBTBD13):c.331G>C (p.Asp111His)
NM_001101362.3(KBTBD13):c.331G>T (p.Asp111Tyr)
NM_001101362.3(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.3(KBTBD13):c.333C>T (p.Asp111=) rs188146580
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
NM_001101362.3(KBTBD13):c.336G>A (p.Ala112=) rs995813983
NM_001101362.3(KBTBD13):c.336G>C (p.Ala112=)
NM_001101362.3(KBTBD13):c.340G>C (p.Ala114Pro) rs1344068633
NM_001101362.3(KBTBD13):c.342C>A (p.Ala114=) rs538410855
NM_001101362.3(KBTBD13):c.342C>G (p.Ala114=) rs538410855
NM_001101362.3(KBTBD13):c.348C>A (p.Phe116Leu) rs1222501717
NM_001101362.3(KBTBD13):c.34T>G (p.Trp12Gly)
NM_001101362.3(KBTBD13):c.350G>C (p.Gly117Ala)
NM_001101362.3(KBTBD13):c.350_351delinsCA (p.Gly117Ala) rs2086984445
NM_001101362.3(KBTBD13):c.355C>G (p.Arg119Gly) rs1222805926
NM_001101362.3(KBTBD13):c.357C>G (p.Arg119=)
NM_001101362.3(KBTBD13):c.35G>A (p.Trp12Ter)
NM_001101362.3(KBTBD13):c.360C>G (p.Asp120Glu)
NM_001101362.3(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.3(KBTBD13):c.361G>C (p.Val121Leu) rs201466173
NM_001101362.3(KBTBD13):c.363G>A (p.Val121=) rs2140543822
NM_001101362.3(KBTBD13):c.369C>T (p.His123=)
NM_001101362.3(KBTBD13):c.370A>G (p.Ser124Gly)
NM_001101362.3(KBTBD13):c.374C>G (p.Ala125Gly) rs575149903
NM_001101362.3(KBTBD13):c.378_379delinsTG (p.Leu127Val)
NM_001101362.3(KBTBD13):c.381_382dup (p.Phe128fs)
NM_001101362.3(KBTBD13):c.387C>G (p.Ile129Met) rs1246047806
NM_001101362.3(KBTBD13):c.389G>C (p.Cys130Ser) rs1316788781
NM_001101362.3(KBTBD13):c.391G>A (p.Asp131Asn) rs1244704984
NM_001101362.3(KBTBD13):c.391G>C (p.Asp131His)
NM_001101362.3(KBTBD13):c.392A>C (p.Asp131Ala)
NM_001101362.3(KBTBD13):c.393C>T (p.Asp131=) rs544721592
NM_001101362.3(KBTBD13):c.396C>T (p.Gly132=)
NM_001101362.3(KBTBD13):c.397G>A (p.Glu133Lys) rs192935606
NM_001101362.3(KBTBD13):c.400C>G (p.Arg134Gly)
NM_001101362.3(KBTBD13):c.402C>G (p.Arg134=)
NM_001101362.3(KBTBD13):c.403G>C (p.Glu135Gln) rs530549178
NM_001101362.3(KBTBD13):c.405G>C (p.Glu135Asp) rs2086986320
NM_001101362.3(KBTBD13):c.40G>A (p.Gly14Ser)
NM_001101362.3(KBTBD13):c.412_423dup (p.Ala138_Ala141dup) rs2086986389
NM_001101362.3(KBTBD13):c.415G>A (p.Glu139Lys) rs1244821047
NM_001101362.3(KBTBD13):c.418C>T (p.Leu140=) rs2140544006
NM_001101362.3(KBTBD13):c.423G>A (p.Ala141=)
NM_001101362.3(KBTBD13):c.424C>A (p.Leu142Met) rs1476921965
NM_001101362.3(KBTBD13):c.429T>C (p.Pro143=) rs1057522825
NM_001101362.3(KBTBD13):c.432G>C (p.Glu144Asp)
NM_001101362.3(KBTBD13):c.434C>A (p.Ala145Asp)
NM_001101362.3(KBTBD13):c.435C>G (p.Ala145=) rs2140544064
NM_001101362.3(KBTBD13):c.436C>G (p.Arg146Gly)
NM_001101362.3(KBTBD13):c.437G>C (p.Arg146Pro)
NM_001101362.3(KBTBD13):c.439G>A (p.Ala147Thr)
NM_001101362.3(KBTBD13):c.442T>C (p.Tyr148His)
NM_001101362.3(KBTBD13):c.444C>G (p.Tyr148Ter)
NM_001101362.3(KBTBD13):c.449C>T (p.Ala150Val)
NM_001101362.3(KBTBD13):c.454C>T (p.Leu152=)
NM_001101362.3(KBTBD13):c.455_462dup (p.Ser155fs)
NM_001101362.3(KBTBD13):c.456_457delinsAA (p.Leu152_Arg153=)
NM_001101362.3(KBTBD13):c.458G>A (p.Arg153Gln)
NM_001101362.3(KBTBD13):c.470A>T (p.Tyr157Phe) rs1481116487
NM_001101362.3(KBTBD13):c.471C>G (p.Tyr157Ter) rs550724858
NM_001101362.3(KBTBD13):c.472G>A (p.Ala158Thr)
NM_001101362.3(KBTBD13):c.473_474del (p.Ala158fs)
NM_001101362.3(KBTBD13):c.474G>A (p.Ala158=)
NM_001101362.3(KBTBD13):c.474G>C (p.Ala158=)
NM_001101362.3(KBTBD13):c.475G>A (p.Ala159Thr) rs2140544169
NM_001101362.3(KBTBD13):c.475_478dup (p.Val160fs)
NM_001101362.3(KBTBD13):c.477C>A (p.Ala159=) rs1052175397
NM_001101362.3(KBTBD13):c.477del (p.Ala159_Val160insTer) rs1555407608
NM_001101362.3(KBTBD13):c.481A>T (p.Ser161Cys)
NM_001101362.3(KBTBD13):c.484A>G (p.Thr162Ala)
NM_001101362.3(KBTBD13):c.485C>A (p.Thr162Lys) rs1269389678
NM_001101362.3(KBTBD13):c.495C>G (p.Pro165=)
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro) rs777916743
NM_001101362.3(KBTBD13):c.502G>A (p.Gly168Ser) rs1595912667
NM_001101362.3(KBTBD13):c.512A>C (p.Glu171Ala)
NM_001101362.3(KBTBD13):c.516C>G (p.Asp172Glu) rs142592180
NM_001101362.3(KBTBD13):c.516C>T (p.Asp172=) rs142592180
NM_001101362.3(KBTBD13):c.519C>T (p.Ala173=)
NM_001101362.3(KBTBD13):c.521C>G (p.Ser174Trp) rs772025364
NM_001101362.3(KBTBD13):c.521C>T (p.Ser174Leu) rs772025364
NM_001101362.3(KBTBD13):c.524G>C (p.Arg175Pro) rs1226640143
NM_001101362.3(KBTBD13):c.527C>T (p.Thr176Met)
NM_001101362.3(KBTBD13):c.531G>A (p.Leu177=)
NM_001101362.3(KBTBD13):c.537C>G (p.Tyr179Ter) rs1465166108
NM_001101362.3(KBTBD13):c.537C>T (p.Tyr179=)
NM_001101362.3(KBTBD13):c.53T>G (p.Phe18Cys) rs949994452
NM_001101362.3(KBTBD13):c.541G>T (p.Asp181Tyr)
NM_001101362.3(KBTBD13):c.544G>T (p.Glu182Ter) rs952061379
NM_001101362.3(KBTBD13):c.549A>G (p.Glu183=)
NM_001101362.3(KBTBD13):c.552G>C (p.Glu184Asp) rs1595912705
NM_001101362.3(KBTBD13):c.555C>T (p.Asp185=)
NM_001101362.3(KBTBD13):c.556G>C (p.Ala186Pro)
NM_001101362.3(KBTBD13):c.556G>T (p.Ala186Ser)
NM_001101362.3(KBTBD13):c.563G>A (p.Arg188His)
NM_001101362.3(KBTBD13):c.566C>T (p.Thr189Met) rs2086990476
NM_001101362.3(KBTBD13):c.571G>C (p.Ala191Pro) rs2086990576
NM_001101362.3(KBTBD13):c.572C>G (p.Ala191Gly) rs1014978095
NM_001101362.3(KBTBD13):c.575_585del (p.Ala192fs)
NM_001101362.3(KBTBD13):c.579G>A (p.Leu193=)
NM_001101362.3(KBTBD13):c.580C>T (p.Pro194Ser)
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu) rs1481658087
NM_001101362.3(KBTBD13):c.582C>T (p.Pro194=) rs1184536215
NM_001101362.3(KBTBD13):c.589G>A (p.Ala197Thr)
NM_001101362.3(KBTBD13):c.592A>G (p.Ser198Gly)
NM_001101362.3(KBTBD13):c.594C>G (p.Ser198Arg) rs1365801743
NM_001101362.3(KBTBD13):c.597G>A (p.Thr199=)
NM_001101362.3(KBTBD13):c.607G>A (p.Gly203Arg) rs944113571
NM_001101362.3(KBTBD13):c.607_615del (p.Gly203_Ala205del) rs1595912738
NM_001101362.3(KBTBD13):c.610G>A (p.Val204Met)
NM_001101362.3(KBTBD13):c.614C>T (p.Ala205Val)
NM_001101362.3(KBTBD13):c.615C>T (p.Ala205=) rs1243976277
NM_001101362.3(KBTBD13):c.623G>A (p.Gly208Asp) rs1198118426
NM_001101362.3(KBTBD13):c.624C>T (p.Gly208=)
NM_001101362.3(KBTBD13):c.625A>T (p.Asn209Tyr)
NM_001101362.3(KBTBD13):c.626A>G (p.Asn209Ser) rs1039913863
NM_001101362.3(KBTBD13):c.627C>T (p.Asn209=)
NM_001101362.3(KBTBD13):c.62A>C (p.Asp21Ala)
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs) rs748327666
NM_001101362.3(KBTBD13):c.640G>A (p.Val214Met)
NM_001101362.3(KBTBD13):c.642G>C (p.Val214=)
NM_001101362.3(KBTBD13):c.644G>A (p.Gly215Glu)
NM_001101362.3(KBTBD13):c.653G>A (p.Arg218His)
NM_001101362.3(KBTBD13):c.654C>T (p.Arg218=)
NM_001101362.3(KBTBD13):c.656G>C (p.Gly219Ala)
NM_001101362.3(KBTBD13):c.657C>A (p.Gly219=) rs1337483952
NM_001101362.3(KBTBD13):c.65G>T (p.Arg22Leu)
NM_001101362.3(KBTBD13):c.662G>A (p.Ser221Asn)
NM_001101362.3(KBTBD13):c.675dup (p.Glu226fs)
NM_001101362.3(KBTBD13):c.697C>A (p.Pro233Thr)
NM_001101362.3(KBTBD13):c.700G>A (p.Asp234Asn)
NM_001101362.3(KBTBD13):c.702C>G (p.Asp234Glu) rs761192296
NM_001101362.3(KBTBD13):c.703G>A (p.Gly235Ser) rs1278649126
NM_001101362.3(KBTBD13):c.705_711del (p.Trp238fs)
NM_001101362.3(KBTBD13):c.706G>A (p.Gly236Ser)
NM_001101362.3(KBTBD13):c.711G>C (p.Thr237=)
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.3(KBTBD13):c.71T>G (p.Leu24Arg)
NM_001101362.3(KBTBD13):c.72G>T (p.Leu24=) rs2086976441
NM_001101362.3(KBTBD13):c.730C>T (p.Pro244Ser)
NM_001101362.3(KBTBD13):c.738G>A (p.Gln246=)
NM_001101362.3(KBTBD13):c.740C>G (p.Pro247Arg)
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001101362.3(KBTBD13):c.746A>G (p.Tyr249Cys)
NM_001101362.3(KBTBD13):c.751A>C (p.Thr251Pro)
NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala) rs757250245
NM_001101362.3(KBTBD13):c.752_753del (p.Thr251fs) rs770027984
NM_001101362.3(KBTBD13):c.756G>T (p.Ala252=) rs1431328866
NM_001101362.3(KBTBD13):c.756_757delinsAA (p.Leu253Met) rs2086994718
NM_001101362.3(KBTBD13):c.75_76delinsCT (p.Val26Leu) rs2140543014
NM_001101362.3(KBTBD13):c.766T>G (p.Phe256Val)
NM_001101362.3(KBTBD13):c.768C>A (p.Phe256Leu)
NM_001101362.3(KBTBD13):c.769G>A (p.Asp257Asn) rs568675071
NM_001101362.3(KBTBD13):c.76G>A (p.Val26Met) rs775846405
NM_001101362.3(KBTBD13):c.782A>G (p.Tyr261Cys) rs958756775
NM_001101362.3(KBTBD13):c.783C>T (p.Tyr261=)
NM_001101362.3(KBTBD13):c.784G>A (p.Ala262Thr)
NM_001101362.3(KBTBD13):c.792C>T (p.Gly264=)
NM_001101362.3(KBTBD13):c.797_798delinsTG (p.Glu266Val)
NM_001101362.3(KBTBD13):c.815T>G (p.Ile272Ser)
NM_001101362.3(KBTBD13):c.81G>A (p.Glu27=)
NM_001101362.3(KBTBD13):c.822C>G (p.Ser274=)
NM_001101362.3(KBTBD13):c.823G>C (p.Val275Leu) rs1566960251
NM_001101362.3(KBTBD13):c.829C>G (p.Arg277Gly) rs754708028
NM_001101362.3(KBTBD13):c.830G>A (p.Arg277His) rs1233365626
NM_001101362.3(KBTBD13):c.83A>G (p.His28Arg)
NM_001101362.3(KBTBD13):c.842C>T (p.Ala281Val) rs1171797812
NM_001101362.3(KBTBD13):c.843C>T (p.Ala281=)
NM_001101362.3(KBTBD13):c.847G>A (p.Gly283Ser) rs770737413
NM_001101362.3(KBTBD13):c.848dup (p.Cys284fs) rs2140545005
NM_001101362.3(KBTBD13):c.84C>T (p.His28=)
NM_001101362.3(KBTBD13):c.861C>G (p.Phe287Leu) rs777259450
NM_001101362.3(KBTBD13):c.862G>A (p.Val288Met)
NM_001101362.3(KBTBD13):c.867C>T (p.Ala289=)
NM_001101362.3(KBTBD13):c.86del (p.Cys29fs) rs1191393272
NM_001101362.3(KBTBD13):c.877_878delinsAG (p.Gln293Arg)
NM_001101362.3(KBTBD13):c.886G>A (p.Ala296Thr)
NM_001101362.3(KBTBD13):c.887C>T (p.Ala296Val) rs1469851032
NM_001101362.3(KBTBD13):c.888C>G (p.Ala296=) rs529828976
NM_001101362.3(KBTBD13):c.888del (p.Gly297fs)
NM_001101362.3(KBTBD13):c.890del (p.Gly297fs)
NM_001101362.3(KBTBD13):c.892G>C (p.Val298Leu)
NM_001101362.3(KBTBD13):c.90C>G (p.Gly30=) rs2140543051
NM_001101362.3(KBTBD13):c.90C>T (p.Gly30=) rs2140543051
NM_001101362.3(KBTBD13):c.921C>A (p.Leu307=) rs773691737
NM_001101362.3(KBTBD13):c.924C>T (p.Phe308=) rs886051335
NM_001101362.3(KBTBD13):c.925G>C (p.Val309Leu) rs532324778
NM_001101362.3(KBTBD13):c.931C>T (p.Leu311=)
NM_001101362.3(KBTBD13):c.938G>T (p.Arg313Leu) rs1399367095
NM_001101362.3(KBTBD13):c.939_940delinsAT (p.Pro314Ser) rs2086999390
NM_001101362.3(KBTBD13):c.946G>A (p.Asp316Asn) rs2140545192
NM_001101362.3(KBTBD13):c.949del (p.Thr317fs) rs2140545202
NM_001101362.3(KBTBD13):c.954C>T (p.Thr318=) rs368781046
NM_001101362.3(KBTBD13):c.957del (p.Val320fs)
NM_001101362.3(KBTBD13):c.958G>A (p.Val320Met) rs367648853
NM_001101362.3(KBTBD13):c.958G>C (p.Val320Leu)
NM_001101362.3(KBTBD13):c.965_975del (p.Glu322fs) rs2087000027
NM_001101362.3(KBTBD13):c.970G>A (p.Ala324Thr) rs1216341966
NM_001101362.3(KBTBD13):c.972A>G (p.Ala324=)
NM_001101362.3(KBTBD13):c.975G>A (p.Val325=)
NM_001101362.3(KBTBD13):c.977G>C (p.Arg326Pro) rs779729198
NM_001101362.3(KBTBD13):c.97C>G (p.Arg33Gly)
NM_001101362.3(KBTBD13):c.97C>T (p.Arg33Ter)
NM_001101362.3(KBTBD13):c.985G>T (p.Ala329Ser) rs1158844505
NM_001101362.3(KBTBD13):c.987G>A (p.Ala329=)
NM_001101362.3(KBTBD13):c.988T>A (p.Trp330Arg)
NM_001101362.3(KBTBD13):c.98G>A (p.Arg33Gln) rs200548009
NM_001101362.3(KBTBD13):c.98G>C (p.Arg33Pro) rs200548009
NM_001101362.3(KBTBD13):c.990G>C (p.Trp330Cys) rs1064797021

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.