ClinVar Miner

List of variants in gene KBTBD13 reported as uncertain significance for Nemaline myopathy 6

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Gene type:
ClinVar version:
Total variants: 304
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HGVS dbSNP gnomAD frequency
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.*684C>T rs549339931 0.00025
NM_001101362.3(KBTBD13):c.*403C>A rs748599461 0.00023
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 0.00019
NM_001101362.3(KBTBD13):c.272C>A (p.Pro91Gln) rs773454367 0.00015
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171 0.00014
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.359del (p.Asp120fs) rs903604256 0.00010
NM_001101362.3(KBTBD13):c.*174G>A rs983773942 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.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.*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.483C>A (p.Ser161Arg) rs1464339145 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.240G>T (p.Gln80His) rs1040368554 0.00003
NM_001101362.3(KBTBD13):c.358G>A (p.Asp120Asn) rs1403660333 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.11G>A (p.Gly4Asp) rs1228459718 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.412G>A (p.Ala138Thr) rs1338140080 0.00002
NM_001101362.3(KBTBD13):c.434C>G (p.Ala145Gly) rs1205418680 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.1016C>T (p.Pro339Leu) rs772222290 0.00001
NM_001101362.3(KBTBD13):c.1048C>A (p.Arg350Ser) rs779744493 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.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.122G>A (p.Arg41Gln) rs760757402 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.1331C>T (p.Pro444Leu) rs1301827044 0.00001
NM_001101362.3(KBTBD13):c.154G>A (p.Val52Ile) rs1268655819 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.252C>T (p.Cys84=) rs886051334 0.00001
NM_001101362.3(KBTBD13):c.266A>G (p.Gln89Arg) rs1460367454 0.00001
NM_001101362.3(KBTBD13):c.367C>T (p.His123Tyr) rs1013537691 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.491C>G (p.Thr164Arg) rs1404956647 0.00001
NM_001101362.3(KBTBD13):c.511G>A (p.Glu171Lys) rs1485601321 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.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.677A>G (p.Glu226Gly) rs1339316249 0.00001
NM_001101362.3(KBTBD13):c.739C>A (p.Pro247Thr) rs1187855959 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.853T>C (p.Trp285Arg) rs768886246 0.00001
NM_001101362.3(KBTBD13):c.862G>C (p.Val288Leu) rs762309788 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.*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.-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.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.1034G>C (p.Cys345Ser)
NM_001101362.3(KBTBD13):c.103C>T (p.Leu35Phe)
NM_001101362.3(KBTBD13):c.1044C>G (p.Ala348=)
NM_001101362.3(KBTBD13):c.1048C>G (p.Arg350Gly) rs779744493
NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys)
NM_001101362.3(KBTBD13):c.1066G>C (p.Val356Leu)
NM_001101362.3(KBTBD13):c.1069C>T (p.Arg357Cys)
NM_001101362.3(KBTBD13):c.1108G>C (p.Asp370His) rs779342567
NM_001101362.3(KBTBD13):c.1139C>T (p.Thr380Met) rs769627742
NM_001101362.3(KBTBD13):c.113C>G (p.Ser38Cys)
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.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.1209C>G (p.Val403=)
NM_001101362.3(KBTBD13):c.1222dup (p.Arg408fs)
NM_001101362.3(KBTBD13):c.1240T>C (p.Tyr414His) rs1555407759
NM_001101362.3(KBTBD13):c.1249G>C (p.Glu417Gln)
NM_001101362.3(KBTBD13):c.1274G>C (p.Arg425Thr)
NM_001101362.3(KBTBD13):c.1292C>T (p.Pro431Leu)
NM_001101362.3(KBTBD13):c.1297C>T (p.Pro433Ser) rs1555407773
NM_001101362.3(KBTBD13):c.1307T>A (p.Leu436Ter) rs2140546093
NM_001101362.3(KBTBD13):c.1322T>A (p.Leu441Gln)
NM_001101362.3(KBTBD13):c.1334C>A (p.Pro445His) rs192406963
NM_001101362.3(KBTBD13):c.1356T>G (p.Thr452=)
NM_001101362.3(KBTBD13):c.1358C>G (p.Ser453Trp)
NM_001101362.3(KBTBD13):c.1361C>T (p.Thr454Ile)
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.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.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.166G>A (p.Gly56Arg)
NM_001101362.3(KBTBD13):c.170del (p.Gly57fs) rs1555407559
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.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.199G>A (p.Gly67Ser)
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.217G>A (p.Ala73Thr) rs1313295854
NM_001101362.3(KBTBD13):c.218C>A (p.Ala73Glu)
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.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.27G>A (p.Val9=)
NM_001101362.3(KBTBD13):c.283C>T (p.Arg95Cys)
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.309G>C (p.Ser103=) rs760134475
NM_001101362.3(KBTBD13):c.314A>T (p.Asn105Ile) rs2086983386
NM_001101362.3(KBTBD13):c.31G>A (p.Val11Met)
NM_001101362.3(KBTBD13):c.320C>G (p.Ala107Gly) rs1264692363
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.335C>A (p.Ala112Glu)
NM_001101362.3(KBTBD13):c.340G>C (p.Ala114Pro) rs1344068633
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.360C>G (p.Asp120Glu)
NM_001101362.3(KBTBD13):c.374C>G (p.Ala125Gly) rs575149903
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.392A>C (p.Asp131Ala)
NM_001101362.3(KBTBD13):c.397G>A (p.Glu133Lys) rs192935606
NM_001101362.3(KBTBD13):c.400C>G (p.Arg134Gly)
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.423G>A (p.Ala141=)
NM_001101362.3(KBTBD13):c.424C>A (p.Leu142Met) rs1476921965
NM_001101362.3(KBTBD13):c.432G>C (p.Glu144Asp)
NM_001101362.3(KBTBD13):c.434C>A (p.Ala145Asp)
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.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.475G>A (p.Ala159Thr) rs2140544169
NM_001101362.3(KBTBD13):c.475_478dup (p.Val160fs)
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.496G>C (p.Ala166Pro) rs777916743
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.541G>T (p.Asp181Tyr)
NM_001101362.3(KBTBD13):c.544G>T (p.Glu182Ter) rs952061379
NM_001101362.3(KBTBD13):c.552G>C (p.Glu184Asp) rs1595912705
NM_001101362.3(KBTBD13):c.563G>A (p.Arg188His)
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.580C>T (p.Pro194Ser)
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu) rs1481658087
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.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.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.634_638del (p.Tyr212fs) rs748327666
NM_001101362.3(KBTBD13):c.640G>A (p.Val214Met)
NM_001101362.3(KBTBD13):c.653G>A (p.Arg218His)
NM_001101362.3(KBTBD13):c.656G>C (p.Gly219Ala)
NM_001101362.3(KBTBD13):c.65G>T (p.Arg22Leu)
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.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.746A>G (p.Tyr249Cys)
NM_001101362.3(KBTBD13):c.751A>C (p.Thr251Pro)
NM_001101362.3(KBTBD13):c.752_753del (p.Thr251fs) rs770027984
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.784G>A (p.Ala262Thr)
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.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.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.888del (p.Gly297fs)
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.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.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.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.988T>A (p.Trp330Arg)
NM_001101362.3(KBTBD13):c.98G>A (p.Arg33Gln) rs200548009
NM_001101362.3(KBTBD13):c.990G>C (p.Trp330Cys) rs1064797021

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