ClinVar Miner

List of variants in gene RIC3, TUB studied for not provided

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Gene type:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_177972.3(TUB):c.566-32C>A rs7931842 0.99757
NM_177972.3(TUB):c.565+16A>G rs11041739 0.99683
NM_177972.3(TUB):c.566-47C>G rs10160258 0.96273
NM_177972.3(TUB):c.397+26C>G rs7396690 0.79455
NM_177972.3(TUB):c.360T>C (p.Gly120=) rs4758289 0.32302
NM_177972.3(TUB):c.1158C>T (p.Ser386=) rs72848487 0.02429
NM_177972.3(TUB):c.923A>G (p.Lys308Arg) rs55892969 0.01789
NM_177972.3(TUB):c.1126G>A (p.Val376Ile) rs75594955 0.00610
NM_177972.3(TUB):c.787A>G (p.Ile263Val) rs143280502 0.00180
NM_177972.3(TUB):c.1388-10T>G rs150402974 0.00097
NM_177972.3(TUB):c.1257G>A (p.Thr419=) rs17847537 0.00086
NM_177972.3(TUB):c.1006T>C (p.Leu336=) rs143129826 0.00078
NM_177972.3(TUB):c.1386C>T (p.Asp462=) rs151125191 0.00047
NM_177972.3(TUB):c.358G>A (p.Gly120Ser) rs146650842 0.00043
NM_177972.3(TUB):c.1180A>G (p.Met394Val) rs139456896 0.00037
NM_177972.3(TUB):c.1455G>A (p.Pro485=) rs147880022 0.00028
NM_177972.3(TUB):c.1206C>T (p.Arg402=) rs200227654 0.00025
NM_177972.3(TUB):c.614A>G (p.Glu205Gly) rs573629131 0.00025
NM_177972.3(TUB):c.1125C>T (p.Asn375=) rs138124865 0.00023
NM_177972.3(TUB):c.1449C>T (p.Asn483=) rs150185181 0.00022
NM_177972.3(TUB):c.492C>T (p.Asp164=) rs201857968 0.00022
NM_177972.3(TUB):c.364G>A (p.Ala122Thr) rs201324153 0.00021
NM_177972.3(TUB):c.998+10T>C rs368161835 0.00021
NM_177972.3(TUB):c.1215+18C>G rs373867678 0.00020
NM_177972.3(TUB):c.1211G>A (p.Arg404His) rs144050808 0.00018
NM_177972.3(TUB):c.1204C>T (p.Arg402Cys) rs144484513 0.00017
NM_177972.3(TUB):c.1270G>A (p.Glu424Lys) rs370188104 0.00017
NM_177972.3(TUB):c.1512G>A (p.Ala504=) rs186542220 0.00016
NM_177972.3(TUB):c.353G>A (p.Gly118Asp) rs139734163 0.00014
NM_177972.3(TUB):c.1216-7C>G rs146732423 0.00013
NM_177972.3(TUB):c.1117-15C>T rs373438699 0.00012
NM_177972.3(TUB):c.324G>A (p.Lys108=) rs191273787 0.00012
NM_177972.3(TUB):c.1388-20G>A rs201501899 0.00011
NM_177972.3(TUB):c.688-9T>A rs576105026 0.00011
NM_177972.3(TUB):c.1339G>A (p.Val447Ile) rs374034236 0.00010
NM_177972.3(TUB):c.1399G>A (p.Val467Met) rs527582687 0.00010
NM_177972.3(TUB):c.297G>A (p.Thr99=) rs376785618 0.00010
NM_177972.3(TUB):c.406G>A (p.Gly136Arg) rs761030269 0.00010
NM_177972.3(TUB):c.736G>A (p.Val246Ile) rs140261272 0.00010
NM_177972.3(TUB):c.1389G>A (p.Pro463=) rs200511292 0.00009
NM_177972.3(TUB):c.398-17G>A rs368232235 0.00009
NM_177972.3(TUB):c.773C>T (p.Pro258Leu) rs565455543 0.00009
NM_177972.3(TUB):c.1156A>G (p.Ser386Gly) rs746452243 0.00008
NM_177972.3(TUB):c.1515C>T (p.Cys505=) rs199733844 0.00008
NM_177972.3(TUB):c.493G>A (p.Ala165Thr) rs775955177 0.00007
NM_177972.3(TUB):c.1232T>A (p.Leu411Gln) rs200239459 0.00006
NM_177972.3(TUB):c.1256C>T (p.Thr419Met) rs184649891 0.00006
NM_177972.3(TUB):c.451G>A (p.Val151Met) rs767402711 0.00006
NM_177972.3(TUB):c.642T>C (p.Asn214=) rs756662823 0.00006
NM_177972.3(TUB):c.1214A>G (p.Asn405Ser) rs189328202 0.00005
NM_177972.3(TUB):c.1218G>A (p.Glu406=) rs778848940 0.00005
NM_177972.3(TUB):c.1387+7G>A rs201613408 0.00005
NM_177972.3(TUB):c.336G>A (p.Ala112=) rs182640954 0.00005
NM_177972.3(TUB):c.1116+15C>T rs200781934 0.00004
NM_177972.3(TUB):c.1238G>A (p.Arg413His) rs768751129 0.00004
NM_177972.3(TUB):c.1415G>A (p.Arg472Gln) rs200534110 0.00004
NM_177972.3(TUB):c.1419A>G (p.Val473=) rs369809314 0.00004
NM_177972.3(TUB):c.1437C>A (p.Thr479=) rs780444298 0.00004
NM_177972.3(TUB):c.1498G>A (p.Asp500Asn) rs368907491 0.00004
NM_177972.3(TUB):c.363C>T (p.Gly121=) rs371754344 0.00004
NM_177972.3(TUB):c.373A>G (p.Lys125Glu) rs759921094 0.00004
NM_177972.3(TUB):c.398-11G>A rs771037090 0.00004
NM_177972.3(TUB):c.520G>A (p.Glu174Lys) rs199992047 0.00004
NM_177972.3(TUB):c.545G>A (p.Arg182His) rs747522121 0.00004
NM_177972.3(TUB):c.641A>G (p.Asn214Ser) rs369363661 0.00004
NM_177972.3(TUB):c.1116+16G>A rs377661142 0.00003
NM_177972.3(TUB):c.1117-14G>A rs372770177 0.00003
NM_177972.3(TUB):c.1398C>T (p.Ile466=) rs749055783 0.00003
NM_177972.3(TUB):c.1497C>T (p.Phe499=) rs757279151 0.00003
NM_177972.3(TUB):c.1516G>A (p.Glu506Lys) rs370882734 0.00003
NM_177972.3(TUB):c.378G>A (p.Glu126=) rs753534902 0.00003
NM_177972.3(TUB):c.523C>T (p.Arg175Trp) rs752675874 0.00003
NM_177972.3(TUB):c.524G>A (p.Arg175Gln) rs756044431 0.00003
NM_177972.3(TUB):c.774G>A (p.Pro258=) rs965503661 0.00003
NM_177972.3(TUB):c.878G>A (p.Gly293Glu) rs755693112 0.00003
NM_177972.3(TUB):c.1144C>T (p.Pro382Ser) rs1482002037 0.00002
NM_177972.3(TUB):c.1147C>T (p.Arg383Trp) rs779602724 0.00002
NM_177972.3(TUB):c.1159G>A (p.Val387Met) rs1214536528 0.00002
NM_177972.3(TUB):c.1167C>T (p.Val389=) rs748165119 0.00002
NM_177972.3(TUB):c.1210C>T (p.Arg404Cys) rs139170512 0.00002
NM_177972.3(TUB):c.1269C>T (p.Ile423=) rs61733059 0.00002
NM_177972.3(TUB):c.1337G>A (p.Arg446His) rs747234368 0.00002
NM_177972.3(TUB):c.1387+1G>A rs1040410003 0.00002
NM_177972.3(TUB):c.1471G>A (p.Ala491Thr) rs775383075 0.00002
NM_177972.3(TUB):c.1476T>C (p.Phe492=) rs375592650 0.00002
NM_177972.3(TUB):c.1477G>A (p.Ala493Thr) rs764350216 0.00002
NM_177972.3(TUB):c.274G>A (p.Ala92Thr) rs776873882 0.00002
NM_177972.3(TUB):c.298C>T (p.Arg100Cys) rs751661721 0.00002
NM_177972.3(TUB):c.305C>T (p.Thr102Ile) rs1417870722 0.00002
NM_177972.3(TUB):c.421G>C (p.Ala141Pro) rs765847447 0.00002
NM_177972.3(TUB):c.483C>T (p.His161=) rs151180468 0.00002
NM_177972.3(TUB):c.485C>T (p.Ala162Val) rs1246320539 0.00002
NM_177972.3(TUB):c.519C>T (p.Gly173=) rs374471490 0.00002
NM_177972.3(TUB):c.552G>A (p.Thr184=) rs141341931 0.00002
NM_177972.3(TUB):c.651C>T (p.Thr217=) rs201231532 0.00002
NM_177972.3(TUB):c.652C>T (p.Arg218Cys) rs771327456 0.00002
NM_177972.3(TUB):c.701C>G (p.Ala234Gly) rs372872825 0.00002
NM_177972.3(TUB):c.744C>T (p.Val248=) rs145901970 0.00002
NM_177972.3(TUB):c.1008G>A (p.Leu336=) rs759600983 0.00001
NM_177972.3(TUB):c.1057G>T (p.Ala353Ser) rs762660510 0.00001
NM_177972.3(TUB):c.1064C>T (p.Ser355Phe) rs759110779 0.00001
NM_177972.3(TUB):c.1090C>T (p.Arg364Cys) rs1345174025 0.00001
NM_177972.3(TUB):c.1095G>C (p.Gln365His) rs376825080 0.00001
NM_177972.3(TUB):c.1116+10A>G rs369305110 0.00001
NM_177972.3(TUB):c.1117-16G>A rs897334739 0.00001
NM_177972.3(TUB):c.1137C>T (p.Phe379=) rs778236632 0.00001
NM_177972.3(TUB):c.1155G>A (p.Met385Ile) rs1944231934 0.00001
NM_177972.3(TUB):c.1178A>G (p.Asn393Ser) rs957860472 0.00001
NM_177972.3(TUB):c.1187A>G (p.His396Arg) rs771147672 0.00001
NM_177972.3(TUB):c.1188T>C (p.His396=) rs575184271 0.00001
NM_177972.3(TUB):c.1191G>C (p.Glu397Asp) rs1370693176 0.00001
NM_177972.3(TUB):c.1194A>T (p.Arg398Ser) rs1944234037 0.00001
NM_177972.3(TUB):c.1196T>C (p.Val399Ala) rs759596902 0.00001
NM_177972.3(TUB):c.1201A>G (p.Ile401Val) rs149675851 0.00001
NM_177972.3(TUB):c.1215+9C>G rs758796067 0.00001
NM_177972.3(TUB):c.1299T>C (p.Asn433=) rs375742021 0.00001
NM_177972.3(TUB):c.1303G>A (p.Asp435Asn) rs1337703401 0.00001
NM_177972.3(TUB):c.1338C>T (p.Arg446=) rs755107569 0.00001
NM_177972.3(TUB):c.1353C>T (p.Ser451=) rs770012408 0.00001
NM_177972.3(TUB):c.1365C>T (p.Phe455=) rs1944269159 0.00001
NM_177972.3(TUB):c.1388-6C>T rs772662118 0.00001
NM_177972.3(TUB):c.1388C>T (p.Pro463Leu) rs369604607 0.00001
NM_177972.3(TUB):c.1392C>G (p.Asp464Glu) rs759242756 0.00001
NM_177972.3(TUB):c.1414C>T (p.Arg472Trp) rs376531726 0.00001
NM_177972.3(TUB):c.1426G>A (p.Asp476Asn) rs1161666867 0.00001
NM_177972.3(TUB):c.1511C>T (p.Ala504Val) rs201497942 0.00001
NM_177972.3(TUB):c.254-14T>C rs745874434 0.00001
NM_177972.3(TUB):c.398-18C>T rs578091107 0.00001
NM_177972.3(TUB):c.456G>A (p.Gln152=) rs752589549 0.00001
NM_177972.3(TUB):c.469G>C (p.Gly157Arg) rs1354337193 0.00001
NM_177972.3(TUB):c.503C>T (p.Thr168Met) rs776903038 0.00001
NM_177972.3(TUB):c.517G>A (p.Gly173Ser) rs1294542296 0.00001
NM_177972.3(TUB):c.540T>G (p.Asp180Glu) rs758541983 0.00001
NM_177972.3(TUB):c.544C>T (p.Arg182Cys) rs780069119 0.00001
NM_177972.3(TUB):c.565+12G>A rs761336122 0.00001
NM_177972.3(TUB):c.653G>A (p.Arg218His) rs146854339 0.00001
NM_177972.3(TUB):c.687+17G>A rs759840784 0.00001
NM_177972.3(TUB):c.688-14C>T rs767686424 0.00001
NM_177972.3(TUB):c.719C>T (p.Pro240Leu) rs780925311 0.00001
NM_177972.3(TUB):c.776C>T (p.Ala259Val) rs1370373387 0.00001
NM_177972.3(TUB):c.802C>T (p.Arg268Cys) rs750902007 0.00001
NM_177972.3(TUB):c.803G>A (p.Arg268His) rs1266920359 0.00001
NM_177972.3(TUB):c.825G>C (p.Gly275=) rs1415983881 0.00001
NM_177972.3(TUB):c.832C>T (p.Arg278Trp) rs752395091 0.00001
NM_177972.3(TUB):c.833G>A (p.Arg278Gln) rs371203227 0.00001
NM_177972.3(TUB):c.858G>C (p.Leu286=) rs756724213 0.00001
NM_177972.3(TUB):c.864G>A (p.Leu288=) rs778848103 0.00001
NM_177972.3(TUB):c.899C>T (p.Ala300Val) rs771522268 0.00001
NM_177972.3(TUB):c.900G>A (p.Ala300=) rs775002620 0.00001
NM_177972.3(TUB):c.930C>T (p.Ser310=) rs767826860 0.00001
NM_177972.3(TUB):c.973G>C (p.Gly325Arg) rs759795167 0.00001
NM_177972.3(TUB):c.975G>A (p.Gly325=) rs1380895862 0.00001
NM_177972.3(TUB):c.998+6A>C rs1438611225 0.00001
NM_177972.3(TUB):c.1005C>G (p.Asn335Lys)
NM_177972.3(TUB):c.1005_1031dup (p.Tyr344_Asp345insLeuMetGlyThrLysPheThrValTyr)
NM_177972.3(TUB):c.1047C>G (p.Asn349Lys) rs1564924659
NM_177972.3(TUB):c.1056G>A (p.Lys352=) rs1589987554
NM_177972.3(TUB):c.1057G>A (p.Ala353Thr) rs762660510
NM_177972.3(TUB):c.1062A>C (p.Ser354=)
NM_177972.3(TUB):c.1062A>G (p.Ser354=)
NM_177972.3(TUB):c.1065C>A (p.Ser355=)
NM_177972.3(TUB):c.1065C>T (p.Ser355=)
NM_177972.3(TUB):c.1081G>A (p.Gly361Arg) rs1229860873
NM_177972.3(TUB):c.1092T>G (p.Arg364=)
NM_177972.3(TUB):c.1116+12G>T
NM_177972.3(TUB):c.1116+13T>C rs759354375
NM_177972.3(TUB):c.1116+19G>T
NM_177972.3(TUB):c.1116+1G>T rs1032858847
NM_177972.3(TUB):c.1116+20G>T
NM_177972.3(TUB):c.1116C>T (p.Tyr372=)
NM_177972.3(TUB):c.1129T>C (p.Leu377=)
NM_177972.3(TUB):c.1131A>G (p.Leu377=)
NM_177972.3(TUB):c.1134C>T (p.Gly378=)
NM_177972.3(TUB):c.1135T>C (p.Phe379Leu)
NM_177972.3(TUB):c.1159G>T (p.Val387Leu) rs1214536528
NM_177972.3(TUB):c.1171G>C (p.Gly391Arg) rs2133907130
NM_177972.3(TUB):c.1173C>A (p.Gly391=)
NM_177972.3(TUB):c.1192_1211del (p.Arg398fs)
NM_177972.3(TUB):c.1195G>A (p.Val399Ile) rs1944234125
NM_177972.3(TUB):c.1203C>T (p.Ile401=)
NM_177972.3(TUB):c.1214A>C (p.Asn405Thr) rs189328202
NM_177972.3(TUB):c.1215+12C>G rs1434042749
NM_177972.3(TUB):c.1215+13C>G rs574124367
NM_177972.3(TUB):c.1215+13C>T rs574124367
NM_177972.3(TUB):c.1215+14C>G rs2133908079
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_177972.3(TUB):c.1215+20T>C
NM_177972.3(TUB):c.1215+7G>A
NM_177972.3(TUB):c.1215+8T>C
NM_177972.3(TUB):c.1215+9C>T rs758796067
NM_177972.3(TUB):c.1215C>T (p.Asn405=)
NM_177972.3(TUB):c.1216G>A (p.Glu406Lys) rs1944261102
NM_177972.3(TUB):c.1237C>T (p.Arg413Cys) rs146835743
NM_177972.3(TUB):c.1239C>G (p.Arg413=)
NM_177972.3(TUB):c.1247A>G (p.Asn416Ser)
NM_177972.3(TUB):c.1275G>A (p.Leu425=) rs1166628614
NM_177972.3(TUB):c.1302T>C (p.Asp434=) rs1944265407
NM_177972.3(TUB):c.1307C>G (p.Thr436Arg)
NM_177972.3(TUB):c.1317T>C (p.Tyr439=)
NM_177972.3(TUB):c.1333G>A (p.Gly445Arg) rs370305563
NM_177972.3(TUB):c.1335G>A (p.Gly445=)
NM_177972.3(TUB):c.1336C>T (p.Arg446Cys)
NM_177972.3(TUB):c.1341C>A (p.Val447=) rs935095797
NM_177972.3(TUB):c.1345C>A (p.Gln449Lys)
NM_177972.3(TUB):c.1370T>C (p.Ile457Thr) rs1296073217
NM_177972.3(TUB):c.1387+12T>C
NM_177972.3(TUB):c.1387+15C>T
NM_177972.3(TUB):c.1387+1del
NM_177972.3(TUB):c.1387+4_1387+7del rs765777554
NM_177972.3(TUB):c.1387+9T>C rs2133913431
NM_177972.3(TUB):c.1388-14G>A
NM_177972.3(TUB):c.1388-4C>T
NM_177972.3(TUB):c.1388-6C>G
NM_177972.3(TUB):c.1388-9T>G
NM_177972.3(TUB):c.1395C>T (p.Tyr465=)
NM_177972.3(TUB):c.1399G>C (p.Val467Leu)
NM_177972.3(TUB):c.1401G>A (p.Val467=) rs1944303250
NM_177972.3(TUB):c.1404G>A (p.Met468Ile) rs1207092091
NM_177972.3(TUB):c.1416G>A (p.Arg472=)
NM_177972.3(TUB):c.1425G>A (p.Glu475=)
NM_177972.3(TUB):c.1431G>T (p.Val477=) rs778822103
NM_177972.3(TUB):c.1457T>C (p.Leu486Pro) rs2133920255
NM_177972.3(TUB):c.1476T>A (p.Phe492Leu) rs375592650
NM_177972.3(TUB):c.1481T>C (p.Ile494Thr) rs2133920498
NM_177972.3(TUB):c.1488G>A (p.Leu496=)
NM_177972.3(TUB):c.1519T>G (p.Ter507Glu)
NM_177972.3(TUB):c.256C>T (p.Gln86Ter) rs2133852526
NM_177972.3(TUB):c.262G>A (p.Ala88Thr)
NM_177972.3(TUB):c.263C>T (p.Ala88Val)
NM_177972.3(TUB):c.264C>T (p.Ala88=)
NM_177972.3(TUB):c.273C>T (p.Leu91=)
NM_177972.3(TUB):c.278G>A (p.Ser93Asn) rs1226712996
NM_177972.3(TUB):c.278G>T (p.Ser93Ile) rs1226712996
NM_177972.3(TUB):c.285G>T (p.Gln95His)
NM_177972.3(TUB):c.290G>A (p.Gly97Glu)
NM_177972.3(TUB):c.293C>G (p.Ala98Gly) rs909748733
NM_177972.3(TUB):c.293C>T (p.Ala98Val) rs909748733
NM_177972.3(TUB):c.299G>A (p.Arg100His)
NM_177972.3(TUB):c.304A>G (p.Thr102Ala) rs1163600570
NM_177972.3(TUB):c.305C>A (p.Thr102Lys)
NM_177972.3(TUB):c.307G>A (p.Ala103Thr)
NM_177972.3(TUB):c.316T>A (p.Ser106Thr) rs1943878785
NM_177972.3(TUB):c.333G>A (p.Lys111=)
NM_177972.3(TUB):c.335C>T (p.Ala112Val)
NM_177972.3(TUB):c.338C>T (p.Ala113Val) rs2133853076
NM_177972.3(TUB):c.345A>G (p.Thr115=)
NM_177972.3(TUB):c.350G>A (p.Gly117Glu) rs1338943201
NM_177972.3(TUB):c.352G>A (p.Gly118Ser) rs147424798
NM_177972.3(TUB):c.354C>A (p.Gly118=) rs1441198278
NM_177972.3(TUB):c.354C>T (p.Gly118=)
NM_177972.3(TUB):c.360_361inv (p.Gly121Ser)
NM_177972.3(TUB):c.366C>T (p.Ala122=)
NM_177972.3(TUB):c.367G>A (p.Ala123Thr)
NM_177972.3(TUB):c.369T>C (p.Ala123=)
NM_177972.3(TUB):c.373A>T (p.Lys125Ter) rs759921094
NM_177972.3(TUB):c.374A>G (p.Lys125Arg)
NM_177972.3(TUB):c.376_378del (p.Glu126del) rs2133853410
NM_177972.3(TUB):c.379AAG[1] (p.Lys128del) rs776764692
NM_177972.3(TUB):c.394A>G (p.Lys132Glu) rs1281715868
NM_177972.3(TUB):c.397+14C>G
NM_177972.3(TUB):c.398-10T>A
NM_177972.3(TUB):c.398-6C>A rs760094717
NM_177972.3(TUB):c.407G>A (p.Gly136Glu)
NM_177972.3(TUB):c.414A>C (p.Ala138=)
NM_177972.3(TUB):c.414A>G (p.Ala138=)
NM_177972.3(TUB):c.422C>T (p.Ala141Val)
NM_177972.3(TUB):c.427G>C (p.Asp143His) rs746566482
NM_177972.3(TUB):c.441C>T (p.Ala147=) rs1396929906
NM_177972.3(TUB):c.465T>C (p.Thr155=) rs1291979316
NM_177972.3(TUB):c.471C>T (p.Gly157=)
NM_177972.3(TUB):c.489G>A (p.Gln163=)
NM_177972.3(TUB):c.495A>G (p.Ala165=) rs1943951309
NM_177972.3(TUB):c.501G>C (p.Glu167Asp) rs2133863913
NM_177972.3(TUB):c.502_504dup (p.Thr168dup) rs2133863924
NM_177972.3(TUB):c.504G>T (p.Thr168=)
NM_177972.3(TUB):c.516G>A (p.Gly172=) rs2133864028
NM_177972.3(TUB):c.518G>A (p.Gly173Asp)
NM_177972.3(TUB):c.518G>T (p.Gly173Val)
NM_177972.3(TUB):c.531C>T (p.Ser177=)
NM_177972.3(TUB):c.532G>A (p.Gly178Arg) rs779206090
NM_177972.3(TUB):c.540T>C (p.Asp180=)
NM_177972.3(TUB):c.542T>A (p.Leu181His)
NM_177972.3(TUB):c.551C>T (p.Thr184Met)
NM_177972.3(TUB):c.565+1G>A
NM_177972.3(TUB):c.565+6C>T
NM_177972.3(TUB):c.566-16T>C
NM_177972.3(TUB):c.566-20T>C
NM_177972.3(TUB):c.566-3C>A
NM_177972.3(TUB):c.566-3del rs1324173858
NM_177972.3(TUB):c.566-4C>T rs2133872224
NM_177972.3(TUB):c.574A>C (p.Ser192Arg) rs946472880
NM_177972.3(TUB):c.581T>A (p.Met194Lys)
NM_177972.3(TUB):c.591C>A (p.Asp197Glu) rs775236651
NM_177972.3(TUB):c.591C>T (p.Asp197=) rs775236651
NM_177972.3(TUB):c.592G>A (p.Glu198Lys)
NM_177972.3(TUB):c.597TGAGGAGGA[1] (p.199DEE[1]) rs762696992
NM_177972.3(TUB):c.597TGAGGAGGA[3] (p.199DEE[3]) rs762696992
NM_177972.3(TUB):c.601G>A (p.Glu201Lys) rs2133872505
NM_177972.3(TUB):c.606T>G (p.Asp202Glu) rs903954556
NM_177972.3(TUB):c.607GAG[2] (p.Glu205del) rs761443997
NM_177972.3(TUB):c.607GAG[6] (p.Glu203_Glu205dup) rs761443997
NM_177972.3(TUB):c.608A>G (p.Glu203Gly) rs761912164
NM_177972.3(TUB):c.632C>T (p.Ser211Phe)
NM_177972.3(TUB):c.644G>A (p.Ser215Asn)
NM_177972.3(TUB):c.654C>T (p.Arg218=)
NM_177972.3(TUB):c.666T>C (p.Ala222=) rs2133873075
NM_177972.3(TUB):c.666T>G (p.Ala222=)
NM_177972.3(TUB):c.672C>G (p.Ser224Arg) rs2133873120
NM_177972.3(TUB):c.681C>T (p.Ser227=)
NM_177972.3(TUB):c.682G>A (p.Val228Ile) rs140700813
NM_177972.3(TUB):c.682G>T (p.Val228Phe) rs140700813
NM_177972.3(TUB):c.687+10_687+11del
NM_177972.3(TUB):c.687+14T>C
NM_177972.3(TUB):c.687+16T>C
NM_177972.3(TUB):c.687+18C>T
NM_177972.3(TUB):c.687+1GTGA[2]
NM_177972.3(TUB):c.687+1GTGA[4]
NM_177972.3(TUB):c.688-7C>G rs1944037135
NM_177972.3(TUB):c.691G>A (p.Ala231Thr)
NM_177972.3(TUB):c.708C>T (p.Ser236=)
NM_177972.3(TUB):c.712A>G (p.Thr238Ala) rs2133877058
NM_177972.3(TUB):c.726dup (p.Pro243fs) rs1250737342
NM_177972.3(TUB):c.728C>T (p.Pro243Leu) rs1944038804
NM_177972.3(TUB):c.741G>A (p.Glu247=)
NM_177972.3(TUB):c.766C>T (p.Leu256=)
NM_177972.3(TUB):c.773C>G (p.Pro258Arg) rs565455543
NM_177972.3(TUB):c.777C>T (p.Ala259=)
NM_177972.3(TUB):c.778C>G (p.Pro260Ala) rs768688995
NM_177972.3(TUB):c.778C>T (p.Pro260Ser)
NM_177972.3(TUB):c.781dup (p.Gln261fs) rs759016192
NM_177972.3(TUB):c.798A>G (p.Lys266=)
NM_177972.3(TUB):c.801C>T (p.Cys267=)
NM_177972.3(TUB):c.814G>T (p.Asp272Tyr) rs1944043311
NM_177972.3(TUB):c.826A>G (p.Met276Val)
NM_177972.3(TUB):c.843C>T (p.Tyr281=) rs1944045211
NM_177972.3(TUB):c.855T>C (p.Phe285=)
NM_177972.3(TUB):c.869G>A (p.Arg290His)
NM_177972.3(TUB):c.869G>T (p.Arg290Leu)
NM_177972.3(TUB):c.872A>G (p.Glu291Gly) rs1944046497
NM_177972.3(TUB):c.876T>C (p.Asp292=)
NM_177972.3(TUB):c.885+17C>T
NM_177972.3(TUB):c.885+19T>A
NM_177972.3(TUB):c.885+20G>A
NM_177972.3(TUB):c.885+3A>G rs2133878404
NM_177972.3(TUB):c.885+7T>C rs776753352
NM_177972.3(TUB):c.886-10A>C rs200128916
NM_177972.3(TUB):c.886-10A>G rs200128916
NM_177972.3(TUB):c.886-19C>T
NM_177972.3(TUB):c.886-5C>T
NM_177972.3(TUB):c.889T>C (p.Phe297Leu) rs931275747
NM_177972.3(TUB):c.894C>T (p.Leu298=)
NM_177972.3(TUB):c.901G>C (p.Gly301Arg)
NM_177972.3(TUB):c.906del (p.Lys303fs)
NM_177972.3(TUB):c.928T>C (p.Ser310Pro)
NM_177972.3(TUB):c.967C>T (p.Arg323Ter) rs1944064401
NM_177972.3(TUB):c.983A>G (p.Tyr328Cys)
NM_177972.3(TUB):c.990G>A (p.Gly330=) rs751516278
NM_177972.3(TUB):c.995T>A (p.Leu332Gln)
NM_177972.3(TUB):c.997C>A (p.Arg333=)
NM_177972.3(TUB):c.998+7G>A rs1589983561
NM_177972.3(TUB):c.998+9A>G
NM_177972.3(TUB):c.999-10T>C
NM_177972.3(TUB):c.999-15G>A
NM_177972.3(TUB):c.999-16del
NM_177972.3(TUB):c.999-3C>T
NM_177972.3(TUB):c.999G>A (p.Arg333=)

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