ClinVar Miner

List of variants in gene LTBP3 studied for Brachyolmia-amelogenesis imperfecta syndrome

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Gene type:
ClinVar version:
Total variants: 801
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.2107+8G>A rs74202491 0.05179
NM_001130144.3(LTBP3):c.1313C>T (p.Ala438Val) rs11545200 0.05087
NM_001130144.3(LTBP3):c.804C>T (p.Pro268=) rs201590889 0.01247
NM_001130144.3(LTBP3):c.3573C>T (p.Ser1191=) rs145046881 0.00786
NM_001130144.3(LTBP3):c.1979-11C>G rs182705867 0.00693
NM_001130144.3(LTBP3):c.2107+13C>T rs201699516 0.00263
NM_001130144.3(LTBP3):c.3548-9T>C rs149115544 0.00193
NM_001130144.3(LTBP3):c.3599G>A (p.Ser1200Asn) rs150273175 0.00162
NM_001130144.3(LTBP3):c.1314G>A (p.Ala438=) rs140740739 0.00094
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=) rs117063418 0.00093
NM_001130144.3(LTBP3):c.1186+18G>T rs369938562 0.00093
NM_001130144.3(LTBP3):c.708C>A (p.Pro236=) rs373043487 0.00080
NM_001130144.3(LTBP3):c.1064-10C>T rs202221935 0.00079
NM_001130144.3(LTBP3):c.2477-11A>T rs201506760 0.00069
NM_001130144.3(LTBP3):c.2817G>A (p.Gln939=) rs150810114 0.00057
NM_001130144.3(LTBP3):c.989C>T (p.Pro330Leu) rs28403592 0.00056
NM_001130144.3(LTBP3):c.457G>A (p.Gly153Ser) rs373381192 0.00054
NM_001130144.3(LTBP3):c.1345+7C>T rs72939112 0.00045
NM_001130144.3(LTBP3):c.3286C>G (p.Arg1096Gly) rs527555537 0.00041
NM_001130144.3(LTBP3):c.485G>C (p.Gly162Ala) rs371177340 0.00038
NM_001130144.3(LTBP3):c.3435C>T (p.Asp1145=) rs534239532 0.00037
NM_001130144.3(LTBP3):c.2637C>A (p.Pro879=) rs139187275 0.00033
NM_001130144.3(LTBP3):c.2458G>A (p.Asp820Asn) rs140268486 0.00029
NM_001130144.3(LTBP3):c.331+10G>A rs199896239 0.00027
NM_001130144.3(LTBP3):c.1100A>G (p.His367Arg) rs142692132 0.00025
NM_001130144.3(LTBP3):c.2726-13G>A rs59666890 0.00024
NM_001130144.3(LTBP3):c.864G>T (p.Pro288=) rs201987018 0.00024
NM_001130144.3(LTBP3):c.332-18C>T rs367889996 0.00022
NM_001130144.3(LTBP3):c.3858C>T (p.Ala1286=) rs555971472 0.00022
NM_001130144.3(LTBP3):c.764C>A (p.Pro255His) rs200322257 0.00021
NM_001130144.3(LTBP3):c.1549-16C>A rs369277746 0.00019
NM_001130144.3(LTBP3):c.2914C>T (p.Pro972Ser) rs148248053 0.00019
NM_001130144.3(LTBP3):c.1721-4G>A rs200801315 0.00018
NM_001130144.3(LTBP3):c.89T>G (p.Leu30Arg) rs966781991 0.00018
NM_001130144.3(LTBP3):c.1158T>A (p.Ser386Arg) rs200733908 0.00017
NM_001130144.3(LTBP3):c.3281C>T (p.Pro1094Leu) rs773279346 0.00017
NM_001130144.3(LTBP3):c.1551G>A (p.Pro517=) rs369318543 0.00016
NM_001130144.3(LTBP3):c.476G>A (p.Ser159Asn) rs766148760 0.00016
NM_001130144.3(LTBP3):c.2380G>A (p.Val794Met) rs144309426 0.00014
NM_001130144.3(LTBP3):c.3408C>T (p.Asp1136=) rs779288121 0.00014
NM_001130144.3(LTBP3):c.3708G>C (p.Val1236=) rs368633346 0.00014
NM_001130144.3(LTBP3):c.3841C>G (p.Arg1281Gly) rs766976554 0.00014
NM_001130144.3(LTBP3):c.3302C>T (p.Pro1101Leu) rs959390214 0.00013
NM_001130144.3(LTBP3):c.751G>A (p.Glu251Lys) rs752311785 0.00013
NM_001130144.3(LTBP3):c.1137T>C (p.Cys379=) rs201941540 0.00012
NM_001130144.3(LTBP3):c.3438C>T (p.Gly1146=) rs766787396 0.00012
NM_001130144.3(LTBP3):c.1101T>C (p.His367=) rs138668677 0.00011
NM_001130144.3(LTBP3):c.1622-4G>A rs936526420 0.00011
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_001130144.3(LTBP3):c.2621C>T (p.Pro874Leu) rs370306373 0.00010
NM_001130144.3(LTBP3):c.3566C>T (p.Ser1189Leu) rs368031065 0.00010
NM_001130144.3(LTBP3):c.1065C>T (p.Asp355=) rs373077694 0.00009
NM_001130144.3(LTBP3):c.1455C>T (p.Asp485=) rs200551731 0.00009
NM_001130144.3(LTBP3):c.1549-4G>A rs770241725 0.00009
NM_001130144.3(LTBP3):c.279C>A (p.Ile93=) rs764035518 0.00009
NM_001130144.3(LTBP3):c.2919C>G (p.Asp973Glu) rs145041278 0.00009
NM_001130144.3(LTBP3):c.443G>A (p.Gly148Asp) rs750578456 0.00009
NM_001130144.3(LTBP3):c.1183A>G (p.Ile395Val) rs374667397 0.00008
NM_001130144.3(LTBP3):c.131G>C (p.Gly44Ala) rs1261373070 0.00008
NM_001130144.3(LTBP3):c.3700G>A (p.Gly1234Ser) rs372367914 0.00008
NM_001130144.3(LTBP3):c.3705C>T (p.Ala1235=) rs893121770 0.00008
NM_001130144.3(LTBP3):c.2473G>A (p.Glu825Lys) rs147143573 0.00007
NM_001130144.3(LTBP3):c.3468C>T (p.Ala1156=) rs1313996915 0.00007
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=) rs538479771 0.00007
NM_001130144.3(LTBP3):c.3629-20T>C rs542733677 0.00007
NM_001130144.3(LTBP3):c.1197G>A (p.Pro399=) rs371960878 0.00006
NM_001130144.3(LTBP3):c.1481C>T (p.Pro494Leu) rs368007426 0.00006
NM_001130144.3(LTBP3):c.1645C>G (p.Pro549Ala) rs145060640 0.00006
NM_001130144.3(LTBP3):c.318C>T (p.Ser106=) rs532614152 0.00006
NM_001130144.3(LTBP3):c.3450C>T (p.Gly1150=) rs988974106 0.00006
NM_001130144.3(LTBP3):c.3546G>C (p.Ala1182=) rs569342451 0.00006
NM_001130144.3(LTBP3):c.3685G>A (p.Val1229Met) rs755974556 0.00006
NM_001130144.3(LTBP3):c.3774C>T (p.Cys1258=) rs1335085112 0.00006
NM_001130144.3(LTBP3):c.1734C>T (p.Cys578=) rs750943686 0.00005
NM_001130144.3(LTBP3):c.3460G>A (p.Gly1154Arg) rs558144911 0.00005
NM_001130144.3(LTBP3):c.3741C>T (p.Ala1247=) rs765433192 0.00005
NM_001130144.3(LTBP3):c.3761-19C>T rs780086002 0.00005
NM_001130144.3(LTBP3):c.3792C>T (p.Arg1264=) rs575913813 0.00005
NM_001130144.3(LTBP3):c.885C>T (p.Pro295=) rs575590294 0.00005
NM_001130144.3(LTBP3):c.1265G>A (p.Arg422His) rs143751614 0.00004
NM_001130144.3(LTBP3):c.1312G>A (p.Ala438Thr) rs368676768 0.00004
NM_001130144.3(LTBP3):c.1350G>A (p.Ala450=) rs772062656 0.00004
NM_001130144.3(LTBP3):c.1549-11G>A rs375244333 0.00004
NM_001130144.3(LTBP3):c.1556G>A (p.Ser519Asn) rs570380350 0.00004
NM_001130144.3(LTBP3):c.1610G>A (p.Arg537Gln) rs779937464 0.00004
NM_001130144.3(LTBP3):c.1622-8G>A rs778346539 0.00004
NM_001130144.3(LTBP3):c.1979-9C>T rs749666154 0.00004
NM_001130144.3(LTBP3):c.2379C>T (p.Asp793=) rs919732061 0.00004
NM_001130144.3(LTBP3):c.2510T>C (p.Ile837Thr) rs570630736 0.00004
NM_001130144.3(LTBP3):c.2725+7G>A rs753230377 0.00004
NM_001130144.3(LTBP3):c.2777C>T (p.Thr926Ile) rs199511147 0.00004
NM_001130144.3(LTBP3):c.3628+12C>T rs376361720 0.00004
NM_001130144.3(LTBP3):c.3696G>A (p.Pro1232=) rs1021285127 0.00004
NM_001130144.3(LTBP3):c.3761-14G>A rs959073244 0.00004
NM_001130144.3(LTBP3):c.3768C>T (p.Asp1256=) rs780866493 0.00004
NM_001130144.3(LTBP3):c.456C>T (p.Gly152=) rs758898554 0.00004
NM_001130144.3(LTBP3):c.465C>A (p.Gly155=) rs765459938 0.00004
NM_001130144.3(LTBP3):c.531C>T (p.Asp177=) rs777775387 0.00004
NM_001130144.3(LTBP3):c.1014C>T (p.Gly338=) rs781078327 0.00003
NM_001130144.3(LTBP3):c.1032C>G (p.Gly344=) rs374183185 0.00003
NM_001130144.3(LTBP3):c.1620C>T (p.Pro540=) rs200693646 0.00003
NM_001130144.3(LTBP3):c.1622-10C>A rs771664405 0.00003
NM_001130144.3(LTBP3):c.1831C>T (p.His611Tyr) rs752399244 0.00003
NM_001130144.3(LTBP3):c.2754G>A (p.Glu918=) rs762809010 0.00003
NM_001130144.3(LTBP3):c.2895C>T (p.Ala965=) rs199948422 0.00003
NM_001130144.3(LTBP3):c.3401G>A (p.Arg1134Gln) rs939910538 0.00003
NM_001130144.3(LTBP3):c.3584C>T (p.Ser1195Phe) rs751218306 0.00003
NM_001130144.3(LTBP3):c.3629-12C>T rs1163480766 0.00003
NM_001130144.3(LTBP3):c.3760+12T>C rs1040585946 0.00003
NM_001130144.3(LTBP3):c.3875G>A (p.Arg1292His) rs1282350856 0.00003
NM_001130144.3(LTBP3):c.1090G>A (p.Val364Met) rs769391647 0.00002
NM_001130144.3(LTBP3):c.1311C>T (p.Gly437=) rs770869213 0.00002
NM_001130144.3(LTBP3):c.1315C>T (p.Arg439Trp) rs753093986 0.00002
NM_001130144.3(LTBP3):c.1548+9G>A rs200530421 0.00002
NM_001130144.3(LTBP3):c.1629C>T (p.Ile543=) rs201114416 0.00002
NM_001130144.3(LTBP3):c.1634G>A (p.Arg545His) rs986091498 0.00002
NM_001130144.3(LTBP3):c.2416T>A (p.Ser806Thr) rs974030785 0.00002
NM_001130144.3(LTBP3):c.241C>T (p.Arg81Trp) rs371878166 0.00002
NM_001130144.3(LTBP3):c.2597-19C>T rs188914608 0.00002
NM_001130144.3(LTBP3):c.399G>A (p.Pro133=) rs775761148 0.00002
NM_001130144.3(LTBP3):c.440C>T (p.Ala147Val) rs370789621 0.00002
NM_001130144.3(LTBP3):c.561C>T (p.Ala187=) rs772833011 0.00002
NM_001130144.3(LTBP3):c.865-4C>T rs775781752 0.00002
NM_001130144.3(LTBP3):c.918C>A (p.Ser306Arg) rs771290855 0.00002
NM_001130144.3(LTBP3):c.939G>C (p.Gln313His) rs761852134 0.00002
NM_001130144.3(LTBP3):c.971-8C>T rs773630683 0.00002
NM_001130144.3(LTBP3):c.1025C>T (p.Pro342Leu) rs1856674742 0.00001
NM_001130144.3(LTBP3):c.1063+13A>G rs761226122 0.00001
NM_001130144.3(LTBP3):c.1191C>A (p.Asp397Glu) rs1856644303 0.00001
NM_001130144.3(LTBP3):c.1196C>T (p.Pro399Leu) rs764981765 0.00001
NM_001130144.3(LTBP3):c.1332A>G (p.Pro444=) rs530601538 0.00001
NM_001130144.3(LTBP3):c.136G>T (p.Ala46Ser) rs766420288 0.00001
NM_001130144.3(LTBP3):c.144G>C (p.Glu48Asp) rs559277223 0.00001
NM_001130144.3(LTBP3):c.1495C>G (p.Gln499Glu) rs1274704456 0.00001
NM_001130144.3(LTBP3):c.1549-5C>T rs373224083 0.00001
NM_001130144.3(LTBP3):c.160G>A (p.Gly54Ser) rs368975107 0.00001
NM_001130144.3(LTBP3):c.1617C>T (p.Tyr539=) rs751782127 0.00001
NM_001130144.3(LTBP3):c.1979-12C>G rs200555150 0.00001
NM_001130144.3(LTBP3):c.1979-1G>C rs1275684003 0.00001
NM_001130144.3(LTBP3):c.1993G>T (p.Ala665Ser) rs769389218 0.00001
NM_001130144.3(LTBP3):c.2004C>G (p.His668Gln) rs756791055 0.00001
NM_001130144.3(LTBP3):c.2055C>G (p.Cys685Trp) rs1208038518 0.00001
NM_001130144.3(LTBP3):c.22G>A (p.Ala8Thr) rs1856868902 0.00001
NM_001130144.3(LTBP3):c.2448T>C (p.His816=) rs745973200 0.00001
NM_001130144.3(LTBP3):c.2455A>G (p.Arg819Gly) rs771624185 0.00001
NM_001130144.3(LTBP3):c.2514G>T (p.Gly838=) rs373120822 0.00001
NM_001130144.3(LTBP3):c.2533A>G (p.Asn845Asp) rs1181954332 0.00001
NM_001130144.3(LTBP3):c.2537G>A (p.Gly846Asp) rs769073809 0.00001
NM_001130144.3(LTBP3):c.2564G>C (p.Gly855Ala) rs937188963 0.00001
NM_001130144.3(LTBP3):c.2596+14G>A rs745530069 0.00001
NM_001130144.3(LTBP3):c.2596+6G>A rs775117463 0.00001
NM_001130144.3(LTBP3):c.2728G>A (p.Val910Met) rs761462890 0.00001
NM_001130144.3(LTBP3):c.2893+15del rs746343395 0.00001
NM_001130144.3(LTBP3):c.2913C>T (p.Cys971=) rs559704168 0.00001
NM_001130144.3(LTBP3):c.311C>T (p.Thr104Met) rs1442604022 0.00001
NM_001130144.3(LTBP3):c.312G>T (p.Thr104=) rs760759276 0.00001
NM_001130144.3(LTBP3):c.3292G>A (p.Val1098Ile) rs1005265947 0.00001
NM_001130144.3(LTBP3):c.332-16C>T rs200862083 0.00001
NM_001130144.3(LTBP3):c.332-17C>T rs894687460 0.00001
NM_001130144.3(LTBP3):c.3405C>T (p.Arg1135=) rs1324573571 0.00001
NM_001130144.3(LTBP3):c.3444C>T (p.Cys1148=) rs1442168258 0.00001
NM_001130144.3(LTBP3):c.3477C>T (p.Phe1159=) rs956271105 0.00001
NM_001130144.3(LTBP3):c.3478G>A (p.Asp1160Asn) rs762718826 0.00001
NM_001130144.3(LTBP3):c.3504C>T (p.Arg1168=) rs748664824 0.00001
NM_001130144.3(LTBP3):c.3514G>A (p.Ala1172Thr) rs769061467 0.00001
NM_001130144.3(LTBP3):c.3537G>A (p.Pro1179=) rs1855981902 0.00001
NM_001130144.3(LTBP3):c.3588C>T (p.Phe1196=) rs922074921 0.00001
NM_001130144.3(LTBP3):c.3603C>T (p.Pro1201=) rs956177794 0.00001
NM_001130144.3(LTBP3):c.3610T>C (p.Leu1204=) rs746305466 0.00001
NM_001130144.3(LTBP3):c.3628+5G>A rs908115215 0.00001
NM_001130144.3(LTBP3):c.3629-3C>T rs1246072463 0.00001
NM_001130144.3(LTBP3):c.3674G>A (p.Ser1225Asn) rs141017996 0.00001
NM_001130144.3(LTBP3):c.3676G>A (p.Gly1226Ser) rs1445499882 0.00001
NM_001130144.3(LTBP3):c.3723C>T (p.Gly1241=) rs1442567859 0.00001
NM_001130144.3(LTBP3):c.3760+16G>A rs771689053 0.00001
NM_001130144.3(LTBP3):c.3834C>T (p.Gly1278=) rs1303084094 0.00001
NM_001130144.3(LTBP3):c.431C>T (p.Ala144Val) rs746544643 0.00001
NM_001130144.3(LTBP3):c.439G>A (p.Ala147Thr) rs771952262 0.00001
NM_001130144.3(LTBP3):c.449G>T (p.Gly150Val) rs1856727052 0.00001
NM_001130144.3(LTBP3):c.467C>G (p.Pro156Arg) rs759947049 0.00001
NM_001130144.3(LTBP3):c.642G>A (p.Pro214=) rs758365981 0.00001
NM_001130144.3(LTBP3):c.662-15C>T rs1176765358 0.00001
NM_001130144.3(LTBP3):c.674C>T (p.Pro225Leu) rs773254858 0.00001
NM_001130144.3(LTBP3):c.712G>C (p.Ala238Pro) rs1241393064 0.00001
NM_001130144.3(LTBP3):c.792G>A (p.Lys264=) rs759226650 0.00001
NM_001130144.3(LTBP3):c.864+18C>T rs374205429 0.00001
NC_000011.10:g.65553887_65553904dup
NC_000011.9:g.(?_65306531)_(65325450_?)dup
NC_000011.9:g.(?_65306779)_(65307119_?)dup
NC_000011.9:g.(?_65318577)_(65321871_?)del
NC_000011.9:g.(?_65319447)_(65320635_?)del
NC_000011.9:g.(?_65320311)_(65325430_?)dup
NM_001130144.3(LTBP3):c.1001G>A (p.Arg334His)
NM_001130144.3(LTBP3):c.1001G>C (p.Arg334Pro) rs750231928
NM_001130144.3(LTBP3):c.1015G>A (p.Ala339Thr)
NM_001130144.3(LTBP3):c.1021T>C (p.Cys341Arg)
NM_001130144.3(LTBP3):c.1063+1G>A rs766900840
NM_001130144.3(LTBP3):c.1063+1G>T
NM_001130144.3(LTBP3):c.1064-2A>G
NM_001130144.3(LTBP3):c.1071C>T (p.Asn357=)
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys) rs913431428
NM_001130144.3(LTBP3):c.1080_1085dup (p.Pro362_Gly363insMetPro)
NM_001130144.3(LTBP3):c.1085C>T (p.Pro362Leu)
NM_001130144.3(LTBP3):c.1086G>A (p.Pro362=)
NM_001130144.3(LTBP3):c.1089C>T (p.Gly363=)
NM_001130144.3(LTBP3):c.1097G>A (p.Arg366His)
NM_001130144.3(LTBP3):c.1102G>A (p.Gly368Ser)
NM_001130144.3(LTBP3):c.1108T>G (p.Cys370Gly)
NM_001130144.3(LTBP3):c.1126T>A (p.Ser376Thr)
NM_001130144.3(LTBP3):c.1133G>T (p.Arg378Leu)
NM_001130144.3(LTBP3):c.1138G>C (p.Val380Leu)
NM_001130144.3(LTBP3):c.1148C>G (p.Pro383Arg)
NM_001130144.3(LTBP3):c.1160_1161insGTGT (p.Gly388fs) rs2135155640
NM_001130144.3(LTBP3):c.1167C>T (p.Pro389=)
NM_001130144.3(LTBP3):c.1170C>T (p.Ser390=)
NM_001130144.3(LTBP3):c.1186+16C>T
NM_001130144.3(LTBP3):c.1187-14A>T
NM_001130144.3(LTBP3):c.1187-15_1187-6del
NM_001130144.3(LTBP3):c.1187-15del rs754347924
NM_001130144.3(LTBP3):c.1187-16C>T rs764686952
NM_001130144.3(LTBP3):c.1187-20C>T
NM_001130144.3(LTBP3):c.1187-5T>C
NM_001130144.3(LTBP3):c.1187-9C>T
NM_001130144.3(LTBP3):c.1196C>A (p.Pro399Gln)
NM_001130144.3(LTBP3):c.1197G>C (p.Pro399=)
NM_001130144.3(LTBP3):c.1198GAG[1] (p.Glu401del) rs1856643872
NM_001130144.3(LTBP3):c.1209C>T (p.Ser403=)
NM_001130144.3(LTBP3):c.1215T>C (p.Cys405=)
NM_001130144.3(LTBP3):c.1220G>A (p.Arg407His)
NM_001130144.3(LTBP3):c.1222C>T (p.Leu408=) rs2135154353
NM_001130144.3(LTBP3):c.1239C>G (p.His413Gln) rs772094176
NM_001130144.3(LTBP3):c.1239C>T (p.His413=)
NM_001130144.3(LTBP3):c.1267C>T (p.Leu423=)
NM_001130144.3(LTBP3):c.126G>A (p.Glu42=)
NM_001130144.3(LTBP3):c.1272C>A (p.Thr424=)
NM_001130144.3(LTBP3):c.1274G>A (p.Arg425His)
NM_001130144.3(LTBP3):c.127G>A (p.Gly43Arg)
NM_001130144.3(LTBP3):c.128G>A (p.Gly43Glu) rs759902304
NM_001130144.3(LTBP3):c.128G>C (p.Gly43Ala) rs759902304
NM_001130144.3(LTBP3):c.1292G>A (p.Ser431Asn)
NM_001130144.3(LTBP3):c.1296C>T (p.Val432=) rs1456966297
NM_001130144.3(LTBP3):c.12C>T (p.Pro4=)
NM_001130144.3(LTBP3):c.1312_1313delinsAT (p.Ala438Met)
NM_001130144.3(LTBP3):c.1313_1314delinsTA (p.Ala438Val)
NM_001130144.3(LTBP3):c.1316G>A (p.Arg439Gln)
NM_001130144.3(LTBP3):c.1317G>A (p.Arg439=)
NM_001130144.3(LTBP3):c.1325G>A (p.Arg442His) rs959220350
NM_001130144.3(LTBP3):c.132G>T (p.Gly44=)
NM_001130144.3(LTBP3):c.132del (p.Pro45fs) rs1286042594
NM_001130144.3(LTBP3):c.1344C>T (p.Thr448=)
NM_001130144.3(LTBP3):c.1345+11G>A
NM_001130144.3(LTBP3):c.1345+17C>A
NM_001130144.3(LTBP3):c.1345+17C>G
NM_001130144.3(LTBP3):c.1345+17C>T
NM_001130144.3(LTBP3):c.1345+18G>A
NM_001130144.3(LTBP3):c.1345+7C>A
NM_001130144.3(LTBP3):c.1345G>A (p.Ala449Thr)
NM_001130144.3(LTBP3):c.1346-18C>G rs1565099357
NM_001130144.3(LTBP3):c.1346-1G>A
NM_001130144.3(LTBP3):c.1346-20G>T
NM_001130144.3(LTBP3):c.1354A>G (p.Lys452Glu) rs1590782835
NM_001130144.3(LTBP3):c.1372G>A (p.Gly458Arg)
NM_001130144.3(LTBP3):c.1374G>A (p.Gly458=)
NM_001130144.3(LTBP3):c.1378G>A (p.Gly460Arg) rs2135153807
NM_001130144.3(LTBP3):c.1383C>T (p.Tyr461=)
NM_001130144.3(LTBP3):c.138C>T (p.Ala46=)
NM_001130144.3(LTBP3):c.1400A>G (p.His467Arg)
NM_001130144.3(LTBP3):c.1406C>T (p.Thr469Met)
NM_001130144.3(LTBP3):c.1412C>T (p.Thr471Ile) rs2135153763
NM_001130144.3(LTBP3):c.1419G>A (p.Gln473=)
NM_001130144.3(LTBP3):c.1422C>T (p.Gly474=)
NM_001130144.3(LTBP3):c.1423G>A (p.Glu475Lys)
NM_001130144.3(LTBP3):c.1437C>G (p.Ser479=)
NM_001130144.3(LTBP3):c.1441T>C (p.Phe481Leu)
NM_001130144.3(LTBP3):c.1456G>C (p.Gly486Arg) rs148883568
NM_001130144.3(LTBP3):c.146G>A (p.Arg49Gln)
NM_001130144.3(LTBP3):c.1480C>T (p.Pro494Ser)
NM_001130144.3(LTBP3):c.1482G>A (p.Pro494=)
NM_001130144.3(LTBP3):c.1483del (p.Glu495fs)
NM_001130144.3(LTBP3):c.1498G>T (p.Ala500Ser)
NM_001130144.3(LTBP3):c.1505C>G (p.Pro502Arg)
NM_001130144.3(LTBP3):c.1506A>G (p.Pro502=)
NM_001130144.3(LTBP3):c.1526A>G (p.Glu509Gly)
NM_001130144.3(LTBP3):c.1531+12C>A
NM_001130144.3(LTBP3):c.1531+15dup rs539958151
NM_001130144.3(LTBP3):c.1531+1G>A
NM_001130144.3(LTBP3):c.1531+1G>T rs875989823
NM_001130144.3(LTBP3):c.1531+2del
NM_001130144.3(LTBP3):c.1532-11_1532-9del
NM_001130144.3(LTBP3):c.1532-3del rs2135152686
NM_001130144.3(LTBP3):c.1532-9C>A
NM_001130144.3(LTBP3):c.1534G>A (p.Val512Met)
NM_001130144.3(LTBP3):c.1537A>G (p.Thr513Ala)
NM_001130144.3(LTBP3):c.1539C>G (p.Thr513=) rs769273204
NM_001130144.3(LTBP3):c.153A>G (p.Ala51=)
NM_001130144.3(LTBP3):c.1542G>A (p.Thr514=)
NM_001130144.3(LTBP3):c.1546T>C (p.Ser516Pro)
NM_001130144.3(LTBP3):c.1549-16C>T
NM_001130144.3(LTBP3):c.1549-7C>T
NM_001130144.3(LTBP3):c.1551G>T (p.Pro517=)
NM_001130144.3(LTBP3):c.1557T>A (p.Ser519Arg)
NM_001130144.3(LTBP3):c.1560G>A (p.Glu520=)
NM_001130144.3(LTBP3):c.1569del (p.Val524fs)
NM_001130144.3(LTBP3):c.1586C>T (p.Pro529Leu)
NM_001130144.3(LTBP3):c.1588A>G (p.Thr530Ala)
NM_001130144.3(LTBP3):c.1599G>A (p.Thr533=)
NM_001130144.3(LTBP3):c.15A>G (p.Arg5=)
NM_001130144.3(LTBP3):c.1609C>T (p.Arg537Trp) rs753655134
NM_001130144.3(LTBP3):c.1612C>T (p.Pro538Ser)
NM_001130144.3(LTBP3):c.161G>A (p.Gly54Asp)
NM_001130144.3(LTBP3):c.1621+4A>C
NM_001130144.3(LTBP3):c.1621+9G>A
NM_001130144.3(LTBP3):c.1622-12T>G
NM_001130144.3(LTBP3):c.1622-5del rs771025582
NM_001130144.3(LTBP3):c.1624C>G (p.Leu542Val)
NM_001130144.3(LTBP3):c.1630T>C (p.Ser544Pro)
NM_001130144.3(LTBP3):c.1640C>G (p.Ser547Trp)
NM_001130144.3(LTBP3):c.1646del (p.Pro549fs)
NM_001130144.3(LTBP3):c.1647G>A (p.Pro549=)
NM_001130144.3(LTBP3):c.1655G>A (p.Arg552His)
NM_001130144.3(LTBP3):c.1656C>G (p.Arg552=)
NM_001130144.3(LTBP3):c.1660T>C (p.Phe554Leu) rs1229419620
NM_001130144.3(LTBP3):c.1662C>A (p.Phe554Leu)
NM_001130144.3(LTBP3):c.1668G>A (p.Pro556=)
NM_001130144.3(LTBP3):c.1671C>T (p.Asp557=)
NM_001130144.3(LTBP3):c.1682C>T (p.Ser561Phe)
NM_001130144.3(LTBP3):c.1683C>T (p.Ser561=)
NM_001130144.3(LTBP3):c.1684C>G (p.Arg562Gly)
NM_001130144.3(LTBP3):c.1699A>G (p.Ile567Val)
NM_001130144.3(LTBP3):c.1700T>C (p.Ile567Thr)
NM_001130144.3(LTBP3):c.170T>C (p.Leu57Pro)
NM_001130144.3(LTBP3):c.1712A>G (p.Gln571Arg) rs1856594821
NM_001130144.3(LTBP3):c.1720+13C>T
NM_001130144.3(LTBP3):c.1720+1dup
NM_001130144.3(LTBP3):c.1720+20G>C rs1482657367
NM_001130144.3(LTBP3):c.1720+8C>T rs1565098331
NM_001130144.3(LTBP3):c.1720+9C>T
NM_001130144.3(LTBP3):c.1721-13G>A
NM_001130144.3(LTBP3):c.1721-15T>G
NM_001130144.3(LTBP3):c.1721-1G>A rs2135143551
NM_001130144.3(LTBP3):c.1721-2A>G rs2135143557
NM_001130144.3(LTBP3):c.1721-5C>A
NM_001130144.3(LTBP3):c.1721-5C>T rs777185028
NM_001130144.3(LTBP3):c.1721-7C>G
NM_001130144.3(LTBP3):c.1721-9T>C rs1418519380
NM_001130144.3(LTBP3):c.1734C>G (p.Cys578Trp) rs750943686
NM_001130144.3(LTBP3):c.1735C>T (p.Arg579Ter) rs767708438
NM_001130144.3(LTBP3):c.1746G>C (p.Gln582His)
NM_001130144.3(LTBP3):c.1752C>T (p.Ile584=)
NM_001130144.3(LTBP3):c.1770C>T (p.Cys590=)
NM_001130144.3(LTBP3):c.1772T>C (p.Val591Ala)
NM_001130144.3(LTBP3):c.1780C>T (p.Pro594Ser) rs2135143369
NM_001130144.3(LTBP3):c.1782C>T (p.Pro594=)
NM_001130144.3(LTBP3):c.1784C>A (p.Pro595His)
NM_001130144.3(LTBP3):c.1785T>C (p.Pro595=)
NM_001130144.3(LTBP3):c.1793_1795del (p.Ser598del)
NM_001130144.3(LTBP3):c.1801T>C (p.Cys601Arg)
NM_001130144.3(LTBP3):c.1809C>T (p.Pro603=)
NM_001130144.3(LTBP3):c.1810G>A (p.Gly604Ser) rs557335712
NM_001130144.3(LTBP3):c.1817G>A (p.Arg606Gln)
NM_001130144.3(LTBP3):c.1827C>T (p.Pro609=)
NM_001130144.3(LTBP3):c.1837T>C (p.Tyr613His)
NM_001130144.3(LTBP3):c.1846+18G>C
NM_001130144.3(LTBP3):c.1846+20C>A
NM_001130144.3(LTBP3):c.1846+3G>A
NM_001130144.3(LTBP3):c.1846+6C>G rs760385371
NM_001130144.3(LTBP3):c.1846+6C>T rs760385371
NM_001130144.3(LTBP3):c.1846+7G>A
NM_001130144.3(LTBP3):c.1846+7G>T rs371976916
NM_001130144.3(LTBP3):c.1847-12C>T
NM_001130144.3(LTBP3):c.1847-14C>T
NM_001130144.3(LTBP3):c.1848T>C (p.Asp616=)
NM_001130144.3(LTBP3):c.1854C>T (p.Asn618=) rs368240238
NM_001130144.3(LTBP3):c.1854_1860dup (p.Glu621fs)
NM_001130144.3(LTBP3):c.1859dup (p.Cys620fs) rs878853262
NM_001130144.3(LTBP3):c.1872C>G (p.Pro624=)
NM_001130144.3(LTBP3):c.1881G>A (p.Pro627=)
NM_001130144.3(LTBP3):c.188A>G (p.Lys63Arg)
NM_001130144.3(LTBP3):c.1897A>C (p.Met633Leu)
NM_001130144.3(LTBP3):c.189G>T (p.Lys63Asn)
NM_001130144.3(LTBP3):c.189GGT[1] (p.Val65del)
NM_001130144.3(LTBP3):c.190G>A (p.Val64Met)
NM_001130144.3(LTBP3):c.1979-14T>C
NM_001130144.3(LTBP3):c.1979-15C>T
NM_001130144.3(LTBP3):c.1979-17C>G
NM_001130144.3(LTBP3):c.1979-7C>T rs948810399
NM_001130144.3(LTBP3):c.198T>C (p.Phe66=) rs1251001072
NM_001130144.3(LTBP3):c.1999C>A (p.Pro667Thr)
NM_001130144.3(LTBP3):c.1999C>T (p.Pro667Ser)
NM_001130144.3(LTBP3):c.2001C>G (p.Pro667=)
NM_001130144.3(LTBP3):c.2005C>T (p.Leu669=)
NM_001130144.3(LTBP3):c.2014G>A (p.Asp672Asn)
NM_001130144.3(LTBP3):c.2022C>T (p.Gly674=)
NM_001130144.3(LTBP3):c.2035T>C (p.Phe679Leu)
NM_001130144.3(LTBP3):c.2040C>T (p.Pro680=)
NM_001130144.3(LTBP3):c.2042G>A (p.Gly681Asp)
NM_001130144.3(LTBP3):c.2057A>G (p.Asn686Ser)
NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys) rs376337792
NM_001130144.3(LTBP3):c.2065C>T (p.Pro689Ser)
NM_001130144.3(LTBP3):c.2067C>T (p.Pro689=)
NM_001130144.3(LTBP3):c.2071_2084del (p.Tyr691fs) rs875989822
NM_001130144.3(LTBP3):c.2077C>A (p.Leu693Ile)
NM_001130144.3(LTBP3):c.2079C>T (p.Leu693=)
NM_001130144.3(LTBP3):c.2090G>A (p.Arg697Gln)
NM_001130144.3(LTBP3):c.2095C>G (p.Pro699Ala)
NM_001130144.3(LTBP3):c.20C>T (p.Ala7Val)
NM_001130144.3(LTBP3):c.2100G>A (p.Val700=)
NM_001130144.3(LTBP3):c.2103C>T (p.Cys701=)
NM_001130144.3(LTBP3):c.2108-10T>G rs2135140225
NM_001130144.3(LTBP3):c.2108-19C>T
NM_001130144.3(LTBP3):c.2108-6G>A
NM_001130144.3(LTBP3):c.2108-8C>T
NM_001130144.3(LTBP3):c.2121C>T (p.Cys707=)
NM_001130144.3(LTBP3):c.2123G>T (p.Arg708Leu)
NM_001130144.3(LTBP3):c.2124G>T (p.Arg708=)
NM_001130144.3(LTBP3):c.2133C>T (p.Ser711=)
NM_001130144.3(LTBP3):c.216G>A (p.Lys72=)
NM_001130144.3(LTBP3):c.2231-18T>G
NM_001130144.3(LTBP3):c.2354-11A>G
NM_001130144.3(LTBP3):c.2354-14C>T
NM_001130144.3(LTBP3):c.2354-17C>T
NM_001130144.3(LTBP3):c.2354-9G>A rs2135131682
NM_001130144.3(LTBP3):c.2356del (p.Val786fs) rs875989824
NM_001130144.3(LTBP3):c.2361C>T (p.Asp787=)
NM_001130144.3(LTBP3):c.2375G>A (p.Gly792Glu)
NM_001130144.3(LTBP3):c.2382G>A (p.Val794=)
NM_001130144.3(LTBP3):c.2386G>A (p.Asp796Asn)
NM_001130144.3(LTBP3):c.2408C>T (p.Thr803Met)
NM_001130144.3(LTBP3):c.2409G>A (p.Thr803=)
NM_001130144.3(LTBP3):c.2414G>A (p.Gly805Glu)
NM_001130144.3(LTBP3):c.2417C>T (p.Ser806Phe)
NM_001130144.3(LTBP3):c.2434C>G (p.Leu812Val)
NM_001130144.3(LTBP3):c.2434C>T (p.Leu812Phe)
NM_001130144.3(LTBP3):c.2443T>A (p.Tyr815Asn)
NM_001130144.3(LTBP3):c.2446C>T (p.His816Tyr)
NM_001130144.3(LTBP3):c.2449C>G (p.Leu817Val) rs2135131479
NM_001130144.3(LTBP3):c.2451G>A (p.Leu817=)
NM_001130144.3(LTBP3):c.2454C>T (p.Ser818=)
NM_001130144.3(LTBP3):c.2456G>A (p.Arg819Lys) rs1856241830
NM_001130144.3(LTBP3):c.2462G>A (p.Arg821Gln)
NM_001130144.3(LTBP3):c.2471G>A (p.Cys824Tyr)
NM_001130144.3(LTBP3):c.2472C>T (p.Cys824=)
NM_001130144.3(LTBP3):c.2473G>C (p.Glu825Gln)
NM_001130144.3(LTBP3):c.2475G>A (p.Glu825=) rs1465792342
NM_001130144.3(LTBP3):c.2476+18T>C
NM_001130144.3(LTBP3):c.2477-11A>G
NM_001130144.3(LTBP3):c.2477-12_2477-3dup rs766331896
NM_001130144.3(LTBP3):c.2477-17C>T
NM_001130144.3(LTBP3):c.2477-3C>T
NM_001130144.3(LTBP3):c.2477-4A>G
NM_001130144.3(LTBP3):c.2477-9C>T
NM_001130144.3(LTBP3):c.247A>G (p.Ser83Gly)
NM_001130144.3(LTBP3):c.2481T>G (p.Ile827Met)
NM_001130144.3(LTBP3):c.2482G>C (p.Asp828His)
NM_001130144.3(LTBP3):c.2495del (p.Phe832fs)
NM_001130144.3(LTBP3):c.2496C>T (p.Phe832=)
NM_001130144.3(LTBP3):c.2497C>T (p.Pro833Ser)
NM_001130144.3(LTBP3):c.2508C>T (p.Cys836=)
NM_001130144.3(LTBP3):c.2511T>G (p.Ile837Met)
NM_001130144.3(LTBP3):c.2514G>A (p.Gly838=)
NM_001130144.3(LTBP3):c.2516G>A (p.Gly839Asp) rs1856229058
NM_001130144.3(LTBP3):c.2539T>C (p.Ser847Pro) rs1856228372
NM_001130144.3(LTBP3):c.2542dup (p.Tyr848fs) rs2135130818
NM_001130144.3(LTBP3):c.2549G>A (p.Cys850Tyr)
NM_001130144.3(LTBP3):c.2551C>T (p.Leu851Phe)
NM_001130144.3(LTBP3):c.2553_2554del (p.Cys852fs)
NM_001130144.3(LTBP3):c.2569C>T (p.Arg857Trp)
NM_001130144.3(LTBP3):c.2570G>A (p.Arg857Gln)
NM_001130144.3(LTBP3):c.2574G>A (p.Leu858=)
NM_001130144.3(LTBP3):c.2579_2582del (p.Gly860fs)
NM_001130144.3(LTBP3):c.2597-17C>T
NM_001130144.3(LTBP3):c.2597-18G>A
NM_001130144.3(LTBP3):c.2597-4G>A
NM_001130144.3(LTBP3):c.2597-4G>T
NM_001130144.3(LTBP3):c.2597-5C>G
NM_001130144.3(LTBP3):c.2597-5C>T rs201473453
NM_001130144.3(LTBP3):c.2597-7C>T
NM_001130144.3(LTBP3):c.2622G>A (p.Pro874=)
NM_001130144.3(LTBP3):c.2630G>A (p.Cys877Tyr) rs746567483
NM_001130144.3(LTBP3):c.2631C>T (p.Cys877=) rs964875283
NM_001130144.3(LTBP3):c.2632C>T (p.Leu878Phe) rs1006876203
NM_001130144.3(LTBP3):c.2649C>T (p.Cys883=) rs768607021
NM_001130144.3(LTBP3):c.2706G>A (p.Gln902=)
NM_001130144.3(LTBP3):c.2715C>A (p.His905Gln)
NM_001130144.3(LTBP3):c.2722G>C (p.Glu908Gln)
NM_001130144.3(LTBP3):c.2725+16G>A
NM_001130144.3(LTBP3):c.2725+19C>A
NM_001130144.3(LTBP3):c.2725+6T>C
NM_001130144.3(LTBP3):c.2725+8T>C
NM_001130144.3(LTBP3):c.2726-14C>T
NM_001130144.3(LTBP3):c.2727G>A (p.Glu909=)
NM_001130144.3(LTBP3):c.273G>T (p.Thr91=) rs1308168899
NM_001130144.3(LTBP3):c.2746AAG[1] (p.Lys917del) rs749595547
NM_001130144.3(LTBP3):c.2748G>A (p.Lys916=)
NM_001130144.3(LTBP3):c.2762T>G (p.Leu921Arg)
NM_001130144.3(LTBP3):c.2770G>C (p.Asp924His)
NM_001130144.3(LTBP3):c.2772T>C (p.Asp924=) rs2135125557
NM_001130144.3(LTBP3):c.2778A>G (p.Thr926=) rs1266689051
NM_001130144.3(LTBP3):c.2788G>C (p.Asp930His)
NM_001130144.3(LTBP3):c.2804C>T (p.Thr935Ile) rs2135125492
NM_001130144.3(LTBP3):c.2807A>G (p.Asn936Ser)
NM_001130144.3(LTBP3):c.2809G>T (p.Val937Leu)
NM_001130144.3(LTBP3):c.2818C>A (p.Gln940Lys)
NM_001130144.3(LTBP3):c.2821G>T (p.Glu941Ter)
NM_001130144.3(LTBP3):c.2825G>A (p.Cys942Tyr) rs780427114
NM_001130144.3(LTBP3):c.2893+10C>A rs765058847
NM_001130144.3(LTBP3):c.2893+11G>A
NM_001130144.3(LTBP3):c.2893+14C>G
NM_001130144.3(LTBP3):c.2893+1G>T rs2135125210
NM_001130144.3(LTBP3):c.2894-12C>G
NM_001130144.3(LTBP3):c.2894-3C>T
NM_001130144.3(LTBP3):c.2894-6C>T
NM_001130144.3(LTBP3):c.2894-7C>T
NM_001130144.3(LTBP3):c.2894-8C>T
NM_001130144.3(LTBP3):c.2894C>T (p.Ala965Val)
NM_001130144.3(LTBP3):c.2908C>T (p.Leu970Phe)
NM_001130144.3(LTBP3):c.2917G>A (p.Asp973Asn)
NM_001130144.3(LTBP3):c.298A>G (p.Thr100Ala)
NM_001130144.3(LTBP3):c.306G>A (p.Thr102=)
NM_001130144.3(LTBP3):c.312G>A (p.Thr104=)
NM_001130144.3(LTBP3):c.314G>C (p.Gly105Ala)
NM_001130144.3(LTBP3):c.314G>T (p.Gly105Val)
NM_001130144.3(LTBP3):c.3280C>T (p.Pro1094Ser)
NM_001130144.3(LTBP3):c.3293T>A (p.Val1098Asp)
NM_001130144.3(LTBP3):c.3293T>C (p.Val1098Ala)
NM_001130144.3(LTBP3):c.329T>C (p.Val110Ala)
NM_001130144.3(LTBP3):c.3303G>A (p.Pro1101=)
NM_001130144.3(LTBP3):c.3303G>T (p.Pro1101=) rs545225621
NM_001130144.3(LTBP3):c.3305G>C (p.Gly1102Ala)
NM_001130144.3(LTBP3):c.331+12G>T rs2135167983
NM_001130144.3(LTBP3):c.331+13G>A
NM_001130144.3(LTBP3):c.331+14del
NM_001130144.3(LTBP3):c.331+19G>C
NM_001130144.3(LTBP3):c.3310T>C (p.Tyr1104His) rs1335050541
NM_001130144.3(LTBP3):c.3312C>T (p.Tyr1104=)
NM_001130144.3(LTBP3):c.332-16C>A
NM_001130144.3(LTBP3):c.332-6C>T
NM_001130144.3(LTBP3):c.3322T>C (p.Cys1108Arg)
NM_001130144.3(LTBP3):c.3399G>A (p.Glu1133=)
NM_001130144.3(LTBP3):c.3399G>T (p.Glu1133Asp) rs2135118725
NM_001130144.3(LTBP3):c.33G>C (p.Leu11=)
NM_001130144.3(LTBP3):c.3400C>T (p.Arg1134Trp)
NM_001130144.3(LTBP3):c.3414C>T (p.Cys1138=)
NM_001130144.3(LTBP3):c.3424C>A (p.Arg1142Ser)
NM_001130144.3(LTBP3):c.3437G>C (p.Gly1146Ala)
NM_001130144.3(LTBP3):c.3445G>A (p.Ala1149Thr) rs1375139471
NM_001130144.3(LTBP3):c.3449G>A (p.Gly1150Asp) rs1404901505
NM_001130144.3(LTBP3):c.3458C>T (p.Ala1153Val)
NM_001130144.3(LTBP3):c.3459C>T (p.Ala1153=)
NM_001130144.3(LTBP3):c.3480C>T (p.Asp1160=) rs776895791
NM_001130144.3(LTBP3):c.3481G>A (p.Asp1161Asn) rs1377615305
NM_001130144.3(LTBP3):c.3482A>G (p.Asp1161Gly)
NM_001130144.3(LTBP3):c.3482_3484dup (p.Asp1161_Cys1162insTyr)
NM_001130144.3(LTBP3):c.3492C>T (p.Cys1164=)
NM_001130144.3(LTBP3):c.3494G>A (p.Arg1165His)
NM_001130144.3(LTBP3):c.3496_3498del (p.Gln1166del)
NM_001130144.3(LTBP3):c.3499G>A (p.Gly1167Ser)
NM_001130144.3(LTBP3):c.3501C>T (p.Gly1167=)
NM_001130144.3(LTBP3):c.3503_3504delinsTT (p.Arg1168Leu) rs2135118245
NM_001130144.3(LTBP3):c.3507C>T (p.Gly1169=)
NM_001130144.3(LTBP3):c.3513C>T (p.Gly1171=) rs2135118206
NM_001130144.3(LTBP3):c.3518A>G (p.Gln1173Arg)
NM_001130144.3(LTBP3):c.3527C>T (p.Pro1176Leu) rs889758877
NM_001130144.3(LTBP3):c.3529T>C (p.Cys1177Arg)
NM_001130144.3(LTBP3):c.3533C>T (p.Pro1178Leu)
NM_001130144.3(LTBP3):c.3535C>G (p.Pro1179Ala) rs2135118126
NM_001130144.3(LTBP3):c.3536C>T (p.Pro1179Leu)
NM_001130144.3(LTBP3):c.3541G>A (p.Gly1181Ser)
NM_001130144.3(LTBP3):c.3545C>T (p.Ala1182Val)
NM_001130144.3(LTBP3):c.3546G>T (p.Ala1182=)
NM_001130144.3(LTBP3):c.3547+7C>T rs1424015880
NM_001130144.3(LTBP3):c.3548-18C>T
NM_001130144.3(LTBP3):c.3551C>T (p.Ser1184Phe)
NM_001130144.3(LTBP3):c.3554A>G (p.His1185Arg)
NM_001130144.3(LTBP3):c.3561G>A (p.Pro1187=)
NM_001130144.3(LTBP3):c.3561G>C (p.Pro1187=)
NM_001130144.3(LTBP3):c.3565T>G (p.Ser1189Ala)
NM_001130144.3(LTBP3):c.3573C>A (p.Ser1191Arg) rs145046881
NM_001130144.3(LTBP3):c.3578G>A (p.Ser1193Asn)
NM_001130144.3(LTBP3):c.3585C>A (p.Ser1195=)
NM_001130144.3(LTBP3):c.3585C>T (p.Ser1195=)
NM_001130144.3(LTBP3):c.3602C>T (p.Pro1201Leu)
NM_001130144.3(LTBP3):c.3605_3623dup (p.Arg1209fs)
NM_001130144.3(LTBP3):c.360C>T (p.Gly120=)
NM_001130144.3(LTBP3):c.3615dup (p.Lys1206fs)
NM_001130144.3(LTBP3):c.3619C>G (p.Pro1207Ala)
NM_001130144.3(LTBP3):c.361G>A (p.Gly121Ser)
NM_001130144.3(LTBP3):c.3628+10dup
NM_001130144.3(LTBP3):c.3628+17C>A
NM_001130144.3(LTBP3):c.3628+17C>T
NM_001130144.3(LTBP3):c.3628+18G>C
NM_001130144.3(LTBP3):c.3628+2T>C rs757974017
NM_001130144.3(LTBP3):c.3628G>C (p.Asp1210His) rs777097028
NM_001130144.3(LTBP3):c.3629-13C>T
NM_001130144.3(LTBP3):c.3629-1G>T
NM_001130144.3(LTBP3):c.3629-2A>G
NM_001130144.3(LTBP3):c.3629-7C>A
NM_001130144.3(LTBP3):c.3633G>C (p.Glu1211Asp)
NM_001130144.3(LTBP3):c.3636C>T (p.Asp1212=)
NM_001130144.3(LTBP3):c.3644A>G (p.Glu1215Gly) rs1855958309
NM_001130144.3(LTBP3):c.3645G>A (p.Glu1215=)
NM_001130144.3(LTBP3):c.3645GGA[1] (p.Glu1216del)
NM_001130144.3(LTBP3):c.3657C>T (p.Asp1219=)
NM_001130144.3(LTBP3):c.3658G>A (p.Glu1220Lys)
NM_001130144.3(LTBP3):c.3670del (p.Cys1223_Val1224insTer)
NM_001130144.3(LTBP3):c.3674G>T (p.Ser1225Ile)
NM_001130144.3(LTBP3):c.367T>G (p.Cys123Gly)
NM_001130144.3(LTBP3):c.3680G>A (p.Arg1227His) rs1855956308
NM_001130144.3(LTBP3):c.3684C>T (p.Cys1228=)
NM_001130144.3(LTBP3):c.3687G>A (p.Val1229=)
NM_001130144.3(LTBP3):c.3689C>G (p.Pro1230Arg) rs751706023
NM_001130144.3(LTBP3):c.3689_3692dup (p.Pro1232fs)
NM_001130144.3(LTBP3):c.3691C>T (p.Arg1231Trp)
NM_001130144.3(LTBP3):c.3720C>T (p.Pro1240=)
NM_001130144.3(LTBP3):c.3722G>C (p.Gly1241Ala)
NM_001130144.3(LTBP3):c.3735C>T (p.Leu1245=)
NM_001130144.3(LTBP3):c.3744_3745inv (p.Arg1249Gly)
NM_001130144.3(LTBP3):c.3749C>T (p.Ala1250Val)
NM_001130144.3(LTBP3):c.3756C>T (p.Cys1252=)
NM_001130144.3(LTBP3):c.3757G>A (p.Val1253Met)
NM_001130144.3(LTBP3):c.3760+10G>A
NM_001130144.3(LTBP3):c.3760+14C>T
NM_001130144.3(LTBP3):c.3760+19G>A
NM_001130144.3(LTBP3):c.3760+8G>A
NM_001130144.3(LTBP3):c.3760+9G>C rs1855947962
NM_001130144.3(LTBP3):c.3761-12C>T
NM_001130144.3(LTBP3):c.3761-13C>T
NM_001130144.3(LTBP3):c.3761-15C>G rs376049741
NM_001130144.3(LTBP3):c.3761-15C>T rs376049741
NM_001130144.3(LTBP3):c.3761-2A>G
NM_001130144.3(LTBP3):c.3761-8dup
NM_001130144.3(LTBP3):c.3761-9C>T
NM_001130144.3(LTBP3):c.3764T>C (p.Ile1255Thr)
NM_001130144.3(LTBP3):c.3765CGA[1] (p.Asp1256del)
NM_001130144.3(LTBP3):c.3769G>T (p.Glu1257Ter)
NM_001130144.3(LTBP3):c.376C>A (p.Arg126=)
NM_001130144.3(LTBP3):c.3771G>C (p.Glu1257Asp)
NM_001130144.3(LTBP3):c.3776G>A (p.Arg1259Gln)
NM_001130144.3(LTBP3):c.3779_3813dup (p.Arg1272delinsSerTer)
NM_001130144.3(LTBP3):c.3786C>G (p.Asn1262Lys)
NM_001130144.3(LTBP3):c.3793G>C (p.Gly1265Arg)
NM_001130144.3(LTBP3):c.3796C>T (p.Leu1266=)
NM_001130144.3(LTBP3):c.3801G>C (p.Leu1267=)
NM_001130144.3(LTBP3):c.3810C>T (p.Ser1270=)
NM_001130144.3(LTBP3):c.3813G>A (p.Glu1271=)
NM_001130144.3(LTBP3):c.3816C>T (p.Arg1272=) rs377032217
NM_001130144.3(LTBP3):c.3820G>A (p.Val1274Met)
NM_001130144.3(LTBP3):c.3824A>G (p.Asn1275Ser)
NM_001130144.3(LTBP3):c.3836C>T (p.Ser1279Phe)
NM_001130144.3(LTBP3):c.3839_3840delinsAA (p.Phe1280Ter)
NM_001130144.3(LTBP3):c.3842G>T (p.Arg1281Leu)
NM_001130144.3(LTBP3):c.3857C>T (p.Ala1286Val)
NM_001130144.3(LTBP3):c.3861C>T (p.Gly1287=)
NM_001130144.3(LTBP3):c.3862T>C (p.Phe1288Leu)
NM_001130144.3(LTBP3):c.3866C>T (p.Ala1289Val)
NM_001130144.3(LTBP3):c.3870C>T (p.Arg1290=)
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup) rs2135114515
NM_001130144.3(LTBP3):c.3878C>T (p.Pro1293Leu)
NM_001130144.3(LTBP3):c.3878_3907dup (p.Arg1302_Arg1303insProHisGlyAlaCysValProGlnArgArg)
NM_001130144.3(LTBP3):c.3883G>C (p.Gly1295Arg)
NM_001130144.3(LTBP3):c.3886G>A (p.Ala1296Thr)
NM_001130144.3(LTBP3):c.3900G>C (p.Gln1300His)
NM_001130144.3(LTBP3):c.3903C>G (p.Arg1301=)
NM_001130144.3(LTBP3):c.3905G>A (p.Arg1302His)
NM_001130144.3(LTBP3):c.3905G>T (p.Arg1302Leu)
NM_001130144.3(LTBP3):c.3906C>T (p.Arg1302=)
NM_001130144.3(LTBP3):c.3907C>A (p.Arg1303Ser)
NM_001130144.3(LTBP3):c.3908G>A (p.Arg1303His)
NM_001130144.3(LTBP3):c.3910_*6del (p.Ter1304del) rs779871744
NM_001130144.3(LTBP3):c.398C>G (p.Pro133Arg)
NM_001130144.3(LTBP3):c.398C>T (p.Pro133Leu)
NM_001130144.3(LTBP3):c.39T>G (p.Pro13=) rs1590792358
NM_001130144.3(LTBP3):c.409G>A (p.Gly137Arg) rs2135160170
NM_001130144.3(LTBP3):c.410G>A (p.Gly137Glu)
NM_001130144.3(LTBP3):c.412C>T (p.Arg138Cys)
NM_001130144.3(LTBP3):c.421C>T (p.Gln141Ter) rs796052116
NM_001130144.3(LTBP3):c.422A>C (p.Gln141Pro)
NM_001130144.3(LTBP3):c.422A>T (p.Gln141Leu)
NM_001130144.3(LTBP3):c.427C>A (p.Pro143Thr)
NM_001130144.3(LTBP3):c.427C>T (p.Pro143Ser)
NM_001130144.3(LTBP3):c.430G>A (p.Ala144Thr) rs181842110
NM_001130144.3(LTBP3):c.430G>T (p.Ala144Ser) rs181842110
NM_001130144.3(LTBP3):c.441C>T (p.Ala147=)
NM_001130144.3(LTBP3):c.448G>A (p.Gly150Ser)
NM_001130144.3(LTBP3):c.44T>C (p.Met15Thr)
NM_001130144.3(LTBP3):c.453C>T (p.Thr151=)
NM_001130144.3(LTBP3):c.454G>A (p.Gly152Ser)
NM_001130144.3(LTBP3):c.461C>T (p.Ser154Leu) rs2135159939
NM_001130144.3(LTBP3):c.466C>A (p.Pro156Thr)
NM_001130144.3(LTBP3):c.468C>T (p.Pro156=)
NM_001130144.3(LTBP3):c.469G>A (p.Gly157Ser)
NM_001130144.3(LTBP3):c.477C>T (p.Ser159=)
NM_001130144.3(LTBP3):c.478A>C (p.Arg160=)
NM_001130144.3(LTBP3):c.483A>G (p.Thr161=)
NM_001130144.3(LTBP3):c.483_484del (p.Ala163fs)
NM_001130144.3(LTBP3):c.486G>A (p.Gly162=)
NM_001130144.3(LTBP3):c.496A>G (p.Thr166Ala)
NM_001130144.3(LTBP3):c.4C>T (p.Pro2Ser)
NM_001130144.3(LTBP3):c.502G>T (p.Ala168Ser) rs1856724698
NM_001130144.3(LTBP3):c.510G>A (p.Pro170=) rs1229558573
NM_001130144.3(LTBP3):c.517G>T (p.Ala173Ser)
NM_001130144.3(LTBP3):c.520C>G (p.Pro174Ala)
NM_001130144.3(LTBP3):c.526G>A (p.Gly176Ser)
NM_001130144.3(LTBP3):c.529G>A (p.Asp177Asn)
NM_001130144.3(LTBP3):c.52_66del (p.Ala18_Gly22del)
NM_001130144.3(LTBP3):c.535G>A (p.Val179Met) rs1158791095
NM_001130144.3(LTBP3):c.536_537del (p.Val179fs) rs2135159627
NM_001130144.3(LTBP3):c.538G>A (p.Ala180Thr)
NM_001130144.3(LTBP3):c.540C>A (p.Ala180=)
NM_001130144.3(LTBP3):c.545A>C (p.Lys182Thr)
NM_001130144.3(LTBP3):c.559G>A (p.Ala187Thr)
NM_001130144.3(LTBP3):c.573C>T (p.Ile191=)
NM_001130144.3(LTBP3):c.57G>A (p.Gly19=)
NM_001130144.3(LTBP3):c.580C>T (p.Pro194Ser)
NM_001130144.3(LTBP3):c.607G>A (p.Ala203Thr)
NM_001130144.3(LTBP3):c.615C>T (p.His205=)
NM_001130144.3(LTBP3):c.616G>A (p.Ala206Thr)
NM_001130144.3(LTBP3):c.620C>T (p.Ala207Val) rs1856718865
NM_001130144.3(LTBP3):c.625C>T (p.Leu209=)
NM_001130144.3(LTBP3):c.626T>C (p.Leu209Pro)
NM_001130144.3(LTBP3):c.62C>A (p.Ala21Glu)
NM_001130144.3(LTBP3):c.63G>A (p.Ala21=)
NM_001130144.3(LTBP3):c.641C>T (p.Pro214Leu)
NM_001130144.3(LTBP3):c.644G>C (p.Gly215Ala)
NM_001130144.3(LTBP3):c.646_661+26del
NM_001130144.3(LTBP3):c.656C>T (p.Ala219Val)
NM_001130144.3(LTBP3):c.65G>A (p.Gly22Glu)
NM_001130144.3(LTBP3):c.661+15G>A
NM_001130144.3(LTBP3):c.661+20C>T
NM_001130144.3(LTBP3):c.662-15C>G
NM_001130144.3(LTBP3):c.662-16C>T
NM_001130144.3(LTBP3):c.662-17A>C
NM_001130144.3(LTBP3):c.662-2A>C
NM_001130144.3(LTBP3):c.662-8G>A
NM_001130144.3(LTBP3):c.662-9C>G
NM_001130144.3(LTBP3):c.666G>T (p.Gln222His)
NM_001130144.3(LTBP3):c.677C>G (p.Pro226Arg)
NM_001130144.3(LTBP3):c.679G>C (p.Val227Leu)
NM_001130144.3(LTBP3):c.6C>A (p.Pro2=)
NM_001130144.3(LTBP3):c.703C>T (p.Pro235Ser)
NM_001130144.3(LTBP3):c.704C>G (p.Pro235Arg)
NM_001130144.3(LTBP3):c.708C>G (p.Pro236=) rs373043487
NM_001130144.3(LTBP3):c.712G>T (p.Ala238Ser)
NM_001130144.3(LTBP3):c.722A>C (p.Gln241Pro)
NM_001130144.3(LTBP3):c.744G>A (p.Ser248=)
NM_001130144.3(LTBP3):c.747C>T (p.Asn249=)
NM_001130144.3(LTBP3):c.74C>T (p.Ala25Val)
NM_001130144.3(LTBP3):c.750C>G (p.Ala250=)
NM_001130144.3(LTBP3):c.752A>G (p.Glu251Gly)
NM_001130144.3(LTBP3):c.756C>A (p.Ser252Arg)
NM_001130144.3(LTBP3):c.766T>A (p.Ser256Thr)
NM_001130144.3(LTBP3):c.767C>T (p.Ser256Phe) rs2135158279
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[12] (p.Leu34_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[14] (p.Leu32_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[15] (p.Leu31_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[5] (p.Leu31_Leu35del)
NM_001130144.3(LTBP3):c.76CTG[6] (p.Leu32_Leu35del) rs71036212
NM_001130144.3(LTBP3):c.76CTG[7] (p.Leu33_Leu35del) rs71036212
NM_001130144.3(LTBP3):c.76CTG[8] (p.Leu34_Leu35del) rs71036212
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) rs71036212
NM_001130144.3(LTBP3):c.770A>G (p.Gln257Arg)
NM_001130144.3(LTBP3):c.776T>C (p.Leu259Pro)
NM_001130144.3(LTBP3):c.782C>A (p.Pro261Gln) rs765178350
NM_001130144.3(LTBP3):c.782C>G (p.Pro261Arg)
NM_001130144.3(LTBP3):c.7G>A (p.Gly3Arg) rs1394412946
NM_001130144.3(LTBP3):c.7G>C (p.Gly3Arg)
NM_001130144.3(LTBP3):c.802C>T (p.Pro268Ser) rs1325394664
NM_001130144.3(LTBP3):c.805C>G (p.Arg269Gly)
NM_001130144.3(LTBP3):c.811C>T (p.Pro271Ser) rs2135158119
NM_001130144.3(LTBP3):c.812C>G (p.Pro271Arg) rs768788797
NM_001130144.3(LTBP3):c.812C>T (p.Pro271Leu)
NM_001130144.3(LTBP3):c.814A>G (p.Thr272Ala)
NM_001130144.3(LTBP3):c.825C>T (p.Pro275=)
NM_001130144.3(LTBP3):c.846C>T (p.Asp282=)
NM_001130144.3(LTBP3):c.848C>G (p.Thr283Ser)
NM_001130144.3(LTBP3):c.852G>C (p.Leu284=)
NM_001130144.3(LTBP3):c.864+13A>G rs2135157955
NM_001130144.3(LTBP3):c.865-13C>A
NM_001130144.3(LTBP3):c.865-14C>G
NM_001130144.3(LTBP3):c.865-15C>T
NM_001130144.3(LTBP3):c.865-16C>G
NM_001130144.3(LTBP3):c.865-17C>T
NM_001130144.3(LTBP3):c.876C>A (p.Asn292Lys)
NM_001130144.3(LTBP3):c.886G>C (p.Gly296Arg) rs1856688217
NM_001130144.3(LTBP3):c.892_893delinsCT (p.Thr298Leu) rs2135157538
NM_001130144.3(LTBP3):c.922G>A (p.Gly308Ser)
NM_001130144.3(LTBP3):c.926C>T (p.Thr309Ile) rs2135157407
NM_001130144.3(LTBP3):c.927T>C (p.Thr309=)
NM_001130144.3(LTBP3):c.928G>A (p.Ala310Thr)
NM_001130144.3(LTBP3):c.932G>A (p.Trp311Ter) rs2135157363
NM_001130144.3(LTBP3):c.936C>T (p.Gly312=)
NM_001130144.3(LTBP3):c.942C>T (p.Ser314=)
NM_001130144.3(LTBP3):c.970+3G>A rs2135157236
NM_001130144.3(LTBP3):c.971-10C>T
NM_001130144.3(LTBP3):c.971-12C>T rs1565100382
NM_001130144.3(LTBP3):c.971-13C>G
NM_001130144.3(LTBP3):c.971-15A>G
NM_001130144.3(LTBP3):c.971-1G>A
NM_001130144.3(LTBP3):c.971-8C>G

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