ClinVar Miner

List of variants in gene TBC1D24 studied for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 650
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001199107.2(TBC1D24):c.1142+17C>A rs199499346 0.00163
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187 0.00109
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146 0.00071
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803 0.00035
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00021
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr) rs377448015 0.00021
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 0.00019
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 0.00018
NM_001199107.2(TBC1D24):c.1207-16C>G rs201618854 0.00016
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) rs368575199 0.00016
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=) rs369172908 0.00016
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) rs370244846 0.00012
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084 0.00011
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991 0.00011
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_001199107.2(TBC1D24):c.1302+14A>C rs528462687 0.00009
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys) rs750028854 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001199107.2(TBC1D24):c.1143-5G>A rs754105574 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999 0.00008
NM_001199107.2(TBC1D24):c.1207-6C>G rs749626631 0.00007
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) rs182825122 0.00007
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) rs371031447 0.00006
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263 0.00006
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935 0.00006
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784 0.00006
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met) rs537705878 0.00006
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=) rs199865687 0.00005
NM_001199107.2(TBC1D24):c.1525+17G>A rs537260143 0.00005
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110 0.00005
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) rs201257588 0.00005
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu) rs779920318 0.00005
NM_001199107.2(TBC1D24):c.768C>T (p.Ala256=) rs778001053 0.00005
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393 0.00005
NM_001199107.2(TBC1D24):c.1142+14G>A rs745904419 0.00004
NM_001199107.2(TBC1D24):c.1341C>T (p.Ile447=) rs372317366 0.00004
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys) rs368678094 0.00004
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) rs367710709 0.00004
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys) rs767145914 0.00004
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=) rs779117497 0.00004
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=) rs555276293 0.00004
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=) rs144714321 0.00004
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) rs61731478 0.00004
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) rs760121083 0.00004
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=) rs190306450 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_001199107.2(TBC1D24):c.828C>T (p.Ile276=) rs764252146 0.00004
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=) rs777237669 0.00004
NM_001199107.2(TBC1D24):c.983+16T>A rs1355546058 0.00004
NM_001199107.2(TBC1D24):c.984-12C>T rs762896980 0.00004
NM_001199107.2(TBC1D24):c.1010C>T (p.Ala337Val) rs1192131861 0.00003
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys) rs1406095259 0.00003
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069 0.00003
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr) rs1475264921 0.00003
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) rs368150932 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) rs556865791 0.00003
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu) rs758697406 0.00003
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=) rs553497128 0.00003
NM_001199107.2(TBC1D24):c.1482C>G (p.Thr494=) rs373862230 0.00003
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys) rs769751880 0.00003
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) rs767925237 0.00003
NM_001199107.2(TBC1D24):c.1526-13G>A rs766052989 0.00003
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) rs751753013 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu) rs751738454 0.00003
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=) rs373872223 0.00003
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=) rs201220026 0.00003
NM_001199107.2(TBC1D24):c.279C>T (p.Pro93=) rs1021608042 0.00003
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277 0.00003
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) rs201174513 0.00003
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys) rs886051845 0.00003
NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=) rs763534843 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001199107.2(TBC1D24):c.731C>T (p.Ala244Val) rs375873110 0.00003
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln) rs779398267 0.00003
NM_001199107.2(TBC1D24):c.786G>A (p.Ser262=) rs371064617 0.00003
NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=) rs527719763 0.00003
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=) rs575173753 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met) rs370233833 0.00003
NM_001199107.2(TBC1D24):c.965+10C>T rs756687194 0.00003
NM_001199107.2(TBC1D24):c.984-5C>G rs535021783 0.00003
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683 0.00002
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=) rs1178639246 0.00002
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys) rs375571181 0.00002
NM_001199107.2(TBC1D24):c.1071C>T (p.Val357=) rs760897479 0.00002
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629 0.00002
NM_001199107.2(TBC1D24):c.1281C>T (p.Thr427=) rs200089341 0.00002
NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=) rs375320196 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634 0.00002
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe) rs1249590916 0.00002
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001199107.2(TBC1D24):c.1525+16C>T rs754724498 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn) rs757236821 0.00002
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter) rs1253505916 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met) rs371245371 0.00002
NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=) rs373088306 0.00002
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=) rs778212970 0.00002
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn) rs979223146 0.00002
NM_001199107.2(TBC1D24):c.231C>T (p.Ile77=) rs375578380 0.00002
NM_001199107.2(TBC1D24):c.273G>A (p.Pro91=) rs762804146 0.00002
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=) rs767766165 0.00002
NM_001199107.2(TBC1D24):c.333G>A (p.Glu111=) rs749237671 0.00002
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) rs1376844321 0.00002
NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=) rs778663250 0.00002
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met) rs200263150 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val) rs750266156 0.00002
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) rs1355375251 0.00002
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) rs762660491 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001199107.2(TBC1D24):c.855G>T (p.Leu285=) rs769201984 0.00002
NM_001199107.2(TBC1D24):c.870C>T (p.Phe290=) rs770453630 0.00002
NM_001199107.2(TBC1D24):c.87C>T (p.Cys29=) rs768933496 0.00002
NM_001199107.2(TBC1D24):c.965+11G>A rs568663296 0.00002
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val) rs753105655 0.00002
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile) rs889668249 0.00001
NM_001199107.2(TBC1D24):c.1020C>T (p.Phe340=) rs200711801 0.00001
NM_001199107.2(TBC1D24):c.1033G>A (p.Val345Ile) rs777515811 0.00001
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln) rs762442022 0.00001
NM_001199107.2(TBC1D24):c.1137G>A (p.Leu379=) rs1243475474 0.00001
NM_001199107.2(TBC1D24):c.1142+6A>T rs778930581 0.00001
NM_001199107.2(TBC1D24):c.1142+7C>A rs1364280797 0.00001
NM_001199107.2(TBC1D24):c.1166A>G (p.His389Arg) rs528162903 0.00001
NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=) rs537494711 0.00001
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966 0.00001
NM_001199107.2(TBC1D24):c.1197G>A (p.Thr399=) rs568288551 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.1206+13C>T rs376162122 0.00001
NM_001199107.2(TBC1D24):c.1206+6C>T rs974544530 0.00001
NM_001199107.2(TBC1D24):c.1206+7A>G rs2065771868 0.00001
NM_001199107.2(TBC1D24):c.1207-11C>T rs778247648 0.00001
NM_001199107.2(TBC1D24):c.1207-18C>T rs372876116 0.00001
NM_001199107.2(TBC1D24):c.1209G>A (p.Val403=) rs1165918189 0.00001
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001199107.2(TBC1D24):c.1260C>A (p.Gly420=) rs761432102 0.00001
NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) rs863224932 0.00001
NM_001199107.2(TBC1D24):c.1302+17G>A rs1173044946 0.00001
NM_001199107.2(TBC1D24):c.1302+9G>A rs1197608274 0.00001
NM_001199107.2(TBC1D24):c.1303-14C>T rs1211054848 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.1353G>A (p.Glu451=) rs1231827471 0.00001
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr) rs201911646 0.00001
NM_001199107.2(TBC1D24):c.1383C>T (p.Ala461=) rs552951046 0.00001
NM_001199107.2(TBC1D24):c.1399C>A (p.Leu467Ile) rs951307443 0.00001
NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg) rs772570554 0.00001
NM_001199107.2(TBC1D24):c.1433G>A (p.Arg478His) rs1596972871 0.00001
NM_001199107.2(TBC1D24):c.1437C>T (p.Leu479=) rs1406537159 0.00001
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu) rs761844771 0.00001
NM_001199107.2(TBC1D24):c.1446C>T (p.Phe482=) rs2065782529 0.00001
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) rs796053405 0.00001
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) rs758665573 0.00001
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile) rs1403522004 0.00001
NM_001199107.2(TBC1D24):c.1513T>G (p.Cys505Gly) rs761300077 0.00001
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp) rs886051844 0.00001
NM_001199107.2(TBC1D24):c.1521C>T (p.Ile507=) rs1269959991 0.00001
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=) rs1333624924 0.00001
NM_001199107.2(TBC1D24):c.1525+13A>C rs751260694 0.00001
NM_001199107.2(TBC1D24):c.1525+7G>A rs1041091510 0.00001
NM_001199107.2(TBC1D24):c.1526-3C>T rs752385354 0.00001
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln) rs780286465 0.00001
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) rs749232409 0.00001
NM_001199107.2(TBC1D24):c.1536C>T (p.Gly512=) rs757328220 0.00001
NM_001199107.2(TBC1D24):c.1537G>A (p.Gly513Ser) rs779026472 0.00001
NM_001199107.2(TBC1D24):c.1545G>A (p.Ala515=) rs747350771 0.00001
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs) rs2065786997 0.00001
NM_001199107.2(TBC1D24):c.1554C>T (p.Ile518=) rs369958726 0.00001
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013 0.00001
NM_001199107.2(TBC1D24):c.1581A>G (p.Thr527=) rs1217553094 0.00001
NM_001199107.2(TBC1D24):c.1590C>T (p.Cys530=) rs1060502501 0.00001
NM_001199107.2(TBC1D24):c.1676A>G (p.Gln559Arg) rs1427285339 0.00001
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg) rs866586869 0.00001
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr) rs756581138 0.00001
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) rs776539630 0.00001
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu) rs543224888 0.00001
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) rs759193465 0.00001
NM_001199107.2(TBC1D24):c.280G>A (p.Glu94Lys) rs1343535255 0.00001
NM_001199107.2(TBC1D24):c.285C>T (p.Phe95=) rs774354974 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.312C>T (p.Tyr104=) rs754301066 0.00001
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His) rs746543920 0.00001
NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=) rs765624033 0.00001
NM_001199107.2(TBC1D24):c.384C>G (p.Ile128Met) rs754479878 0.00001
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr) rs770787878 0.00001
NM_001199107.2(TBC1D24):c.408C>T (p.Ala136=) rs3810796 0.00001
NM_001199107.2(TBC1D24):c.413T>C (p.Val138Ala) rs1162185369 0.00001
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=) rs1015174831 0.00001
NM_001199107.2(TBC1D24):c.415G>A (p.Ala139Thr) rs565087939 0.00001
NM_001199107.2(TBC1D24):c.420G>A (p.Leu140=) rs1400165650 0.00001
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His) rs1301489148 0.00001
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser) rs1277641753 0.00001
NM_001199107.2(TBC1D24):c.495C>G (p.Gly165=) rs776661155 0.00001
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr) rs757359393 0.00001
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro) rs770847294 0.00001
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly) rs767035291 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met) rs763670146 0.00001
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val) rs771442254 0.00001
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=) rs776459372 0.00001
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His) rs1223160118 0.00001
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=) rs571126287 0.00001
NM_001199107.2(TBC1D24):c.64C>T (p.Leu22=) rs746087403 0.00001
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=) rs750100459 0.00001
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr) rs796053401 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 0.00001
NM_001199107.2(TBC1D24):c.690C>T (p.Asp230=) rs749531792 0.00001
NM_001199107.2(TBC1D24):c.691G>A (p.Val231Ile) rs370614433 0.00001
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser) rs1183009408 0.00001
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His) rs199744635 0.00001
NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=) rs772786813 0.00001
NM_001199107.2(TBC1D24):c.732G>A (p.Ala244=) rs554758752 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001199107.2(TBC1D24):c.800A>G (p.Gln267Arg) rs1004946712 0.00001
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val) rs1417808543 0.00001
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile) rs752610561 0.00001
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly) rs760591932 0.00001
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) rs754019727 0.00001
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val) rs909267678 0.00001
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val) rs775099094 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199107.2(TBC1D24):c.94C>T (p.Leu32=) rs1246835125 0.00001
NM_001199107.2(TBC1D24):c.965+13C>T rs531521557 0.00001
NM_001199107.2(TBC1D24):c.965+2T>C rs755370981 0.00001
NM_001199107.2(TBC1D24):c.965+7C>T rs1244113744 0.00001
NM_001199107.2(TBC1D24):c.965+8G>A rs372247100 0.00001
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=) rs1054785696 0.00001
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=) rs886043654 0.00001
NM_001199107.2(TBC1D24):c.983+15G>A rs1172969040 0.00001
NM_001199107.2(TBC1D24):c.983+7C>T rs778459711 0.00001
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404 0.00001
NC_000016.10:g.(?_2496129)_(2500978_?)del
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NC_000016.9:g.(?_2546150)_(2550959_?)del
NC_000016.9:g.(?_2546150)_(2550959_?)dup
NC_000016.9:g.(?_2549338)_(2550959_?)dup
NM_001199107.2(TBC1D24):c.1002C>G (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1008T>C (p.His336=) rs961839071
NM_001199107.2(TBC1D24):c.1016A>C (p.Asn339Thr)
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp) rs1159971280
NM_001199107.2(TBC1D24):c.1026G>C (p.Ser342=) rs370244846
NM_001199107.2(TBC1D24):c.1030A>G (p.Ile344Val) rs2141874280
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met) rs769656369
NM_001199107.2(TBC1D24):c.1074C>G (p.Pro358=)
NM_001199107.2(TBC1D24):c.1075G>A (p.Glu359Lys)
NM_001199107.2(TBC1D24):c.1078del (p.Arg360fs)
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.1086C>T (p.Ala362=)
NM_001199107.2(TBC1D24):c.1095G>A (p.Gln365=) rs2141874394
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu) rs2141874400
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His) rs2065761961
NM_001199107.2(TBC1D24):c.1102C>G (p.Leu368Val)
NM_001199107.2(TBC1D24):c.1104G>T (p.Leu368=)
NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=) rs1555501404
NM_001199107.2(TBC1D24):c.1116C>A (p.Ser372=)
NM_001199107.2(TBC1D24):c.1116C>T (p.Ser372=)
NM_001199107.2(TBC1D24):c.1119G>T (p.Leu373=) rs2141874428
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.1138G>T (p.Ala380Ser) rs2141874469
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs) rs1205407936
NM_001199107.2(TBC1D24):c.1143-5G>T rs754105574
NM_001199107.2(TBC1D24):c.1143-9C>G
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter) rs2065771024
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro) rs770363653
NM_001199107.2(TBC1D24):c.1167T>C (p.His389=) rs2065771222
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199107.2(TBC1D24):c.1180T>C (p.Leu394=)
NM_001199107.2(TBC1D24):c.1188C>G (p.Ile396Met)
NM_001199107.2(TBC1D24):c.1198_1200dup (p.Gln400dup) rs752216831
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His) rs760474458
NM_001199107.2(TBC1D24):c.119G>C (p.Arg40Pro)
NM_001199107.2(TBC1D24):c.1206+11G>C
NM_001199107.2(TBC1D24):c.1206+14C>T
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[2] rs777798547
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[4] rs777798547
NM_001199107.2(TBC1D24):c.1207-19A>G
NM_001199107.2(TBC1D24):c.1207-20C>A rs757347903
NM_001199107.2(TBC1D24):c.1207-20C>T
NM_001199107.2(TBC1D24):c.1207-6C>T rs749626631
NM_001199107.2(TBC1D24):c.1207-7C>T rs1348586468
NM_001199107.2(TBC1D24):c.1209G>T (p.Val403=)
NM_001199107.2(TBC1D24):c.1213G>A (p.Gly405Ser)
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1221C>T (p.Tyr407=) rs2065775888
NM_001199107.2(TBC1D24):c.1228A>G (p.Thr410Ala)
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn) rs2065776034
NM_001199107.2(TBC1D24):c.1244G>A (p.Arg415Lys)
NM_001199107.2(TBC1D24):c.1253T>G (p.Phe418Cys) rs776176742
NM_001199107.2(TBC1D24):c.1256G>C (p.Gly419Ala)
NM_001199107.2(TBC1D24):c.1269C>T (p.Gly423=)
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys) rs1596972145
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=) rs377748101
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg)
NM_001199107.2(TBC1D24):c.1298T>C (p.Phe433Ser)
NM_001199107.2(TBC1D24):c.1299T>A (p.Phe433Leu)
NM_001199107.2(TBC1D24):c.1302+19C>T
NM_001199107.2(TBC1D24):c.1302+1G>T
NM_001199107.2(TBC1D24):c.1303-18A>G rs2141876962
NM_001199107.2(TBC1D24):c.1303-2A>G rs2141876985
NM_001199107.2(TBC1D24):c.1303-5C>A rs1468286638
NM_001199107.2(TBC1D24):c.1303-5C>G rs1468286638
NM_001199107.2(TBC1D24):c.1303-7A>G rs2141876976
NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)
NM_001199107.2(TBC1D24):c.1317G>A (p.Val439=)
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) rs1567411053
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly) rs775497984
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln) rs141399869
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)
NM_001199107.2(TBC1D24):c.1335G>C (p.Val445=)
NM_001199107.2(TBC1D24):c.1341C>A (p.Ile447=) rs372317366
NM_001199107.2(TBC1D24):c.1342A>G (p.Lys448Glu)
NM_001199107.2(TBC1D24):c.1347C>T (p.His449=)
NM_001199107.2(TBC1D24):c.1358C>T (p.Thr453Ile)
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala) rs2065781206
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) rs200641000
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu) rs200641000
NM_001199107.2(TBC1D24):c.1369C>T (p.Pro457Ser)
NM_001199107.2(TBC1D24):c.1371C>G (p.Pro457=)
NM_001199107.2(TBC1D24):c.1374G>A (p.Leu458=)
NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)
NM_001199107.2(TBC1D24):c.1393G>T (p.Ala465Ser)
NM_001199107.2(TBC1D24):c.1396C>G (p.Pro466Ala)
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs) rs2141877166
NM_001199107.2(TBC1D24):c.1399C>T (p.Leu467Phe)
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs)
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr) rs2065781840
NM_001199107.2(TBC1D24):c.1407C>T (p.His469=) rs2141877201
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1410C>G (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1413C>T (p.Ala471=) rs761742075
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu) rs2065782431
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) rs765396824
NM_001199107.2(TBC1D24):c.144C>T (p.His48=) rs765396824
NM_001199107.2(TBC1D24):c.1454C>T (p.Ala485Val)
NM_001199107.2(TBC1D24):c.1466A>G (p.Asn489Ser)
NM_001199107.2(TBC1D24):c.1471C>T (p.Pro491Ser) rs1326854687
NM_001199107.2(TBC1D24):c.1474T>A (p.Ser492Thr) rs2141877364
NM_001199107.2(TBC1D24):c.1482C>T (p.Thr494=) rs373862230
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs)
NM_001199107.2(TBC1D24):c.1489A>G (p.Met497Val) rs2065783244
NM_001199107.2(TBC1D24):c.1495A>G (p.Met499Val) rs2065783330
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
NM_001199107.2(TBC1D24):c.1500G>C (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1505G>A (p.Gly502Asp)
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs)
NM_001199107.2(TBC1D24):c.1506C>T (p.Gly502=) rs1302904331
NM_001199107.2(TBC1D24):c.1508G>A (p.Ser503Asn)
NM_001199107.2(TBC1D24):c.1525+10A>G
NM_001199107.2(TBC1D24):c.1525+6C>A
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1526G>A (p.Gly509Glu)
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val) rs796053406
NM_001199107.2(TBC1D24):c.1538G>A (p.Gly513Asp)
NM_001199107.2(TBC1D24):c.1539C>T (p.Gly513=) rs1466557404
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter) rs746057710
NM_001199107.2(TBC1D24):c.1548C>T (p.Leu516=) rs1555501692
NM_001199107.2(TBC1D24):c.1550A>G (p.Tyr517Cys)
NM_001199107.2(TBC1D24):c.1552A>G (p.Ile518Val)
NM_001199107.2(TBC1D24):c.1555G>A (p.Asp519Asn)
NM_001199107.2(TBC1D24):c.1559G>A (p.Gly520Glu)
NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu) rs755313242
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=) rs971385188
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn) rs2065787303
NM_001199107.2(TBC1D24):c.1574G>A (p.Gly525Asp)
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs)
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His) rs752301570
NM_001199107.2(TBC1D24):c.1582A>G (p.Ser528Gly)
NM_001199107.2(TBC1D24):c.1583G>A (p.Ser528Asn)
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp) rs1060502501
NM_001199107.2(TBC1D24):c.1591G>T (p.Asp531Tyr)
NM_001199107.2(TBC1D24):c.1601A>G (p.Asn534Ser)
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs) rs1567414972
NM_001199107.2(TBC1D24):c.1608G>A (p.Gln536=)
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser) rs2065788002
NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu)
NM_001199107.2(TBC1D24):c.1610C>A (p.Pro537His)
NM_001199107.2(TBC1D24):c.1620C>G (p.Ser540=)
NM_001199107.2(TBC1D24):c.1623G>A (p.Glu541=) rs1596973590
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu) rs1060502502
NM_001199107.2(TBC1D24):c.1629C>T (p.Phe543=)
NM_001199107.2(TBC1D24):c.162G>A (p.Val54=)
NM_001199107.2(TBC1D24):c.1633A>T (p.Ile545Phe)
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1641C>T (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1642G>T (p.Val548Leu)
NM_001199107.2(TBC1D24):c.1644G>A (p.Val548=)
NM_001199107.2(TBC1D24):c.1655G>T (p.Gly552Val)
NM_001199107.2(TBC1D24):c.1668T>C (p.Pro556=)
NM_001199107.2(TBC1D24):c.1671C>T (p.Asp557=)
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu) rs2141870903
NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)
NM_001199107.2(TBC1D24):c.170G>A (p.Arg57His) rs370100394
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) rs1555501140
NM_001199107.2(TBC1D24):c.179G>C (p.Arg60Pro)
NM_001199107.2(TBC1D24):c.181G>T (p.Asp61Tyr)
NM_001199107.2(TBC1D24):c.184A>G (p.Ile62Val)
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser) rs952274725
NM_001199107.2(TBC1D24):c.192C>T (p.Cys64=) rs878854271
NM_001199107.2(TBC1D24):c.194G>A (p.Arg65His)
NM_001199107.2(TBC1D24):c.197C>G (p.Thr66Arg) rs371245371
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val) rs2141870575
NM_001199107.2(TBC1D24):c.210C>A (p.Asp70Glu)
NM_001199107.2(TBC1D24):c.215G>A (p.Ser72Asn) rs2141871042
NM_001199107.2(TBC1D24):c.216C>T (p.Ser72=) rs749814291
NM_001199107.2(TBC1D24):c.227A>G (p.Asp76Gly)
NM_001199107.2(TBC1D24):c.229A>T (p.Ile77Phe)
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met) rs747915584
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu) rs747915584
NM_001199107.2(TBC1D24):c.247G>T (p.Gly83Cys)
NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp)
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp) rs2065739166
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr) rs2065739166
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn)
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly) rs2065739291
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn) rs2065739388
NM_001199107.2(TBC1D24):c.264C>T (p.Ser88=) rs2141871200
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs)
NM_001199107.2(TBC1D24):c.274C>T (p.Leu92=)
NM_001199107.2(TBC1D24):c.284T>C (p.Phe95Ser)
NM_001199107.2(TBC1D24):c.285C>G (p.Phe95Leu)
NM_001199107.2(TBC1D24):c.286G>A (p.Val96Met)
NM_001199107.2(TBC1D24):c.286G>C (p.Val96Leu)
NM_001199107.2(TBC1D24):c.291C>T (p.Asp97=)
NM_001199107.2(TBC1D24):c.296C>T (p.Thr99Met)
NM_001199107.2(TBC1D24):c.299A>G (p.Gln100Arg)
NM_001199107.2(TBC1D24):c.303G>A (p.Val101=)
NM_001199107.2(TBC1D24):c.309dup (p.Tyr104fs)
NM_001199107.2(TBC1D24):c.317T>A (p.Leu106Gln)
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.321T>C (p.Asn107=)
NM_001199107.2(TBC1D24):c.325C>A (p.Arg109Ser)
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) rs372337277
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=) rs754551693
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) rs773211471
NM_001199107.2(TBC1D24):c.331G>C (p.Glu111Gln)
NM_001199107.2(TBC1D24):c.333G>T (p.Glu111Asp)
NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)
NM_001199107.2(TBC1D24):c.339C>A (p.Ala113=)
NM_001199107.2(TBC1D24):c.348G>A (p.Lys116=)
NM_001199107.2(TBC1D24):c.348G>T (p.Lys116Asn)
NM_001199107.2(TBC1D24):c.352C>T (p.Leu118Phe)
NM_001199107.2(TBC1D24):c.354C>G (p.Leu118=) rs2141871420
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser) rs1457138817
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=) rs752594126
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu) rs1567411503
NM_001199107.2(TBC1D24):c.376C>T (p.Pro126Ser)
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) rs750962753
NM_001199107.2(TBC1D24):c.380A>G (p.Asp127Gly)
NM_001199107.2(TBC1D24):c.384C>T (p.Ile128=) rs754479878
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp) rs777604231
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser) rs1489466696
NM_001199107.2(TBC1D24):c.396C>T (p.Pro132=) rs371937830
NM_001199107.2(TBC1D24):c.397G>T (p.Ala133Ser)
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val) rs2065741608
NM_001199107.2(TBC1D24):c.39C>T (p.Asp13=)
NM_001199107.2(TBC1D24):c.400C>T (p.Leu134=) rs2065741660
NM_001199107.2(TBC1D24):c.401T>C (p.Leu134Pro) rs2065741689
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu) rs200263150
NM_001199107.2(TBC1D24):c.417C>A (p.Ala139=)
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val) rs1274130724
NM_001199107.2(TBC1D24):c.418C>T (p.Leu140=)
NM_001199107.2(TBC1D24):c.430T>C (p.Tyr144His)
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys) rs1596968109
NM_001199107.2(TBC1D24):c.434G>A (p.Ser145Asn) rs2141871675
NM_001199107.2(TBC1D24):c.438C>T (p.Ile146=) rs776944981
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) rs763626059
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val) rs2065742678
NM_001199107.2(TBC1D24):c.448G>A (p.Glu150Lys)
NM_001199107.2(TBC1D24):c.455T>C (p.Phe152Ser)
NM_001199107.2(TBC1D24):c.456C>T (p.Phe152=) rs2065742840
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala) rs1424074905
NM_001199107.2(TBC1D24):c.458A>G (p.Glu153Gly)
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp) rs1169312508
NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile)
NM_001199107.2(TBC1D24):c.461A>G (p.Lys154Arg)
NM_001199107.2(TBC1D24):c.465C>T (p.Ala155=) rs1596968205
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.477G>C (p.Leu159=)
NM_001199107.2(TBC1D24):c.487G>T (p.Asp163Tyr)
NM_001199107.2(TBC1D24):c.489C>T (p.Asp163=)
NM_001199107.2(TBC1D24):c.490C>T (p.Pro164Ser)
NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=) rs369172908
NM_001199107.2(TBC1D24):c.493G>T (p.Gly165Cys)
NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=) rs529104933
NM_001199107.2(TBC1D24):c.508G>A (p.Asp170Asn)
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp) rs2065744128
NM_001199107.2(TBC1D24):c.524C>G (p.Ala175Gly) rs2065744128
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) rs483352866
NM_001199107.2(TBC1D24):c.538T>C (p.Cys180Arg)
NM_001199107.2(TBC1D24):c.540C>A (p.Cys180Ter)
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) rs1215641557
NM_001199107.2(TBC1D24):c.555C>T (p.Asp185=)
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val) rs1555501245
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs) rs2141870681
NM_001199107.2(TBC1D24):c.57C>A (p.Ile19=)
NM_001199107.2(TBC1D24):c.585C>G (p.His195Gln)
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg) rs758299397
NM_001199107.2(TBC1D24):c.596T>C (p.Val199Ala)
NM_001199107.2(TBC1D24):c.600C>T (p.Ala200=)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.612T>C (p.Asp204=)
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His) rs876658012
NM_001199107.2(TBC1D24):c.624C>T (p.Val208=)
NM_001199107.2(TBC1D24):c.628G>A (p.Ala210Thr) rs2141872095
NM_001199107.2(TBC1D24):c.631G>A (p.Asp211Asn)
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly) rs1596968508
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter) rs2141872114
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001199107.2(TBC1D24):c.650T>A (p.Phe217Tyr) rs1441237124
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys) rs1159293544
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro) rs2065745991
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter)
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg) rs2141870701
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.683T>A (p.Val228Asp)
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu) rs1567410958
NM_001199107.2(TBC1D24):c.69G>A (p.Gly23=)
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.702G>C (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.710A>G (p.Tyr237Cys)
NM_001199107.2(TBC1D24):c.715del (p.Val239fs) rs2141872348
NM_001199107.2(TBC1D24):c.717G>A (p.Val239=)
NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)
NM_001199107.2(TBC1D24):c.721T>A (p.Tyr241Asn)
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu) rs375873110
NM_001199107.2(TBC1D24):c.746A>T (p.Lys249Met)
NM_001199107.2(TBC1D24):c.750C>G (p.Phe250Leu) rs1555501289
NM_001199107.2(TBC1D24):c.751T>G (p.Phe251Val) rs267607104
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001199107.2(TBC1D24):c.759G>C (p.Lys253Asn) rs190306450
NM_001199107.2(TBC1D24):c.769G>A (p.Gly257Arg)
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp) rs1440897868
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys) rs369120050
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu) rs2065735848
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu) rs779398267
NM_001199107.2(TBC1D24):c.777G>A (p.Pro259=)
NM_001199107.2(TBC1D24):c.777G>T (p.Pro259=)
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln) rs2065747894
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His) rs2065747955
NM_001199107.2(TBC1D24):c.790A>G (p.Ser264Gly)
NM_001199107.2(TBC1D24):c.791G>A (p.Ser264Asn)
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=) rs769290045
NM_001199107.2(TBC1D24):c.793G>T (p.Val265Leu) rs772768393
NM_001199107.2(TBC1D24):c.804C>T (p.Asp268=)
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs) rs2141872499
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met) rs762576413
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
NM_001199107.2(TBC1D24):c.812C>T (p.Thr271Met) rs1328684138
NM_001199107.2(TBC1D24):c.816C>T (p.Phe272=) rs796053402
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del) rs2141872549
NM_001199107.2(TBC1D24):c.824A>G (p.Asp275Gly) rs2141872557
NM_001199107.2(TBC1D24):c.828C>G (p.Ile276Met)
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) rs754019727
NM_001199107.2(TBC1D24):c.831G>A (p.Ala277=)
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met) rs867618745
NM_001199107.2(TBC1D24):c.840G>A (p.Val280=)
NM_001199107.2(TBC1D24):c.841T>C (p.Ser281Pro)
NM_001199107.2(TBC1D24):c.842C>A (p.Ser281Tyr)
NM_001199107.2(TBC1D24):c.846T>C (p.Pro282=)
NM_001199107.2(TBC1D24):c.855G>C (p.Leu285=) rs769201984
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=) rs1328290571
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe) rs2065735946
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys) rs1351414664
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala) rs2065736000
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) rs760666914
NM_001199107.2(TBC1D24):c.890G>T (p.Arg297Leu) rs760666914
NM_001199107.2(TBC1D24):c.916G>A (p.Ala306Thr) rs2141872755
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) rs1555501320
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val) rs1160994039
NM_001199107.2(TBC1D24):c.930C>T (p.Ala310=)
NM_001199107.2(TBC1D24):c.954G>A (p.Val318=)
NM_001199107.2(TBC1D24):c.955A>C (p.Lys319Gln) rs2141872821
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg) rs2141870761
NM_001199107.2(TBC1D24):c.963G>T (p.Lys321Asn) rs2141872825
NM_001199107.2(TBC1D24):c.965+11G>C rs568663296
NM_001199107.2(TBC1D24):c.965+15G>T
NM_001199107.2(TBC1D24):c.965+16C>G rs2065750449
NM_001199107.2(TBC1D24):c.965+16C>T
NM_001199107.2(TBC1D24):c.965+17C>T
NM_001199107.2(TBC1D24):c.965+1G>T
NM_001199107.2(TBC1D24):c.965+4G>C rs781629915
NM_001199107.2(TBC1D24):c.965+8G>T rs372247100
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn) rs1567412410
NM_001199107.2(TBC1D24):c.966-10T>A rs1217245218
NM_001199107.2(TBC1D24):c.966-11C>T
NM_001199107.2(TBC1D24):c.966-12_966-10del rs2065755511
NM_001199107.2(TBC1D24):c.966-5T>C
NM_001199107.2(TBC1D24):c.967G>A (p.Val323Met)
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu) rs1567412736
NM_001199107.2(TBC1D24):c.972A>G (p.Ser324=)
NM_001199107.2(TBC1D24):c.977C>A (p.Ser326Tyr) rs2141873571
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter) rs2065755770
NM_001199107.2(TBC1D24):c.983+15_983+16del rs1064794673
NM_001199107.2(TBC1D24):c.983+19C>G rs2141873600
NM_001199107.2(TBC1D24):c.983+1G>C rs2141873582
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001199107.2(TBC1D24):c.984-11G>A rs1297656612
NM_001199107.2(TBC1D24):c.984-16T>C
NM_001199107.2(TBC1D24):c.984-5C>T rs535021783
NM_001199107.2(TBC1D24):c.984-7C>T rs1432999070
NM_001199107.2(TBC1D24):c.984G>A (p.Arg328=) rs774492330
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile)
NM_001199107.2(TBC1D24):c.994C>T (p.His332Tyr)

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