ClinVar Miner

List of variants in gene KBTBD13 studied for childhood-onset nemaline myopathy

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 545
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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.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.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.984C>T (p.Asp328=) rs1477394894 0.00001
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.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.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.1080T>A (p.Pro360=)
NM_001101362.3(KBTBD13):c.1083C>G (p.Ser361=) rs760978865
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.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.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.1260C>T (p.Thr420=) rs1177062291
NM_001101362.3(KBTBD13):c.1264C>A (p.Arg422=)
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.1307T>A (p.Leu436Ter) rs2140546093
NM_001101362.3(KBTBD13):c.1309C>G (p.Gln437Glu) rs749128043
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.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.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.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.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.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.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.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.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.241_242insTCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGG (p.Gln80_Ala81insValValGluCysAlaAlaPheLeuGlnAlaProAlaLeuAlaAlaGluAspGluLeuLeuGln)
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
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.25G>T (p.Val9Leu)
NM_001101362.3(KBTBD13):c.261C>A (p.Phe87Leu)
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.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.392A>C (p.Asp131Ala)
NM_001101362.3(KBTBD13):c.393C>T (p.Asp131=) rs544721592
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.439G>A (p.Ala147Thr)
NM_001101362.3(KBTBD13):c.444C>G (p.Tyr148Ter)
NM_001101362.3(KBTBD13):c.449C>T (p.Ala150Val)
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.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.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.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.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.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.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.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.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.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.706G>A (p.Gly236Ser)
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.3(KBTBD13):c.72G>T (p.Leu24=) rs2086976441
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.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.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.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.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.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.977G>C (p.Arg326Pro) rs779729198
NM_001101362.3(KBTBD13):c.97C>G (p.Arg33Gly)
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

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