ClinVar Miner

List of variants reported as uncertain significance for qualitative or quantitative defects of protein ZASP

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 674
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala) rs111941389 0.00048
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827 0.00024
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_007078.3(LDB3):c.897-6700G>A rs560431536 0.00018
NM_007078.3(LDB3):c.690-4621A>G rs370053163 0.00016
NM_007078.3(LDB3):c.769G>C (p.Glu257Gln) rs143996848 0.00016
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_007078.3(LDB3):c.-24+41G>A rs45578532 0.00011
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn) rs1004651681 0.00011
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_007078.3(LDB3):c.1071T>A (p.Pro357=) rs143823978 0.00009
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser) rs147072071 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_007078.3(LDB3):c.690-4619G>T rs761090088 0.00009
NM_007078.3(LDB3):c.1411C>T (p.Pro471Ser) rs750941511 0.00008
NM_007078.3(LDB3):c.1675C>T (p.Arg559Trp) rs142947567 0.00008
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_007078.3(LDB3):c.581A>T (p.Gln194Leu) rs769852198 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln) rs201689564 0.00008
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn) rs746183666 0.00007
NM_007078.3(LDB3):c.1858-11C>A rs369454227 0.00007
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile) rs141078955 0.00007
NM_001368067.1(LDB3):c.324G>A (p.Val108=) rs397516556 0.00006
NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys) rs377201153 0.00006
NM_007078.3(LDB3):c.1430A>G (p.Tyr477Cys) rs529178109 0.00006
NM_007078.3(LDB3):c.344G>A (p.Gly115Asp) rs767658173 0.00006
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131 0.00006
NM_007078.3(LDB3):c.713C>A (p.Ala238Asp) rs369398522 0.00006
NM_007078.3(LDB3):c.897-6745C>T rs746256049 0.00006
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr) rs755513516 0.00005
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) rs397517211 0.00005
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln) rs762985970 0.00005
NM_007078.3(LDB3):c.1654G>A (p.Gly552Ser) rs771007816 0.00005
NM_007078.3(LDB3):c.1904T>G (p.Val635Gly) rs567014755 0.00005
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112 0.00005
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_007078.3(LDB3):c.897-6665C>T rs549156118 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys) rs369470035 0.00004
NM_001368067.1(LDB3):c.770C>T (p.Thr257Met) rs375798002 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser) rs730880129 0.00004
NM_007078.3(LDB3):c.1667A>G (p.Asn556Ser) rs372583830 0.00004
NM_007078.3(LDB3):c.1972G>A (p.Glu658Lys) rs760563152 0.00004
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn) rs748399477 0.00004
NM_007078.3(LDB3):c.407C>T (p.Pro136Leu) rs772887402 0.00004
NM_007078.3(LDB3):c.451G>A (p.Ala151Thr) rs780578350 0.00004
NM_007078.3(LDB3):c.530C>T (p.Ala177Val) rs397517224 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_007078.3(LDB3):c.764A>G (p.Lys255Arg) rs199739130 0.00004
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys) rs374168618 0.00004
NM_007078.3(LDB3):c.897-6692C>T rs1286351667 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_001368067.1(LDB3):c.331A>G (p.Asn111Asp) rs376900496 0.00003
NM_001368067.1(LDB3):c.817G>A (p.Gly273Ser) rs771037817 0.00003
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr) rs924634578 0.00003
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser) rs397517214 0.00003
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser) rs201786090 0.00003
NM_007078.3(LDB3):c.1640G>A (p.Arg547Gln) rs201968826 0.00003
NM_007078.3(LDB3):c.1789T>A (p.Tyr597Asn) rs727503131 0.00003
NM_007078.3(LDB3):c.2050G>A (p.Glu684Lys) rs754552434 0.00003
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu) rs200239096 0.00003
NM_007078.3(LDB3):c.428G>A (p.Ser143Asn) rs201773873 0.00003
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr) rs759790522 0.00003
NM_007078.3(LDB3):c.897-6664G>A rs376355443 0.00003
NM_007078.3(LDB3):c.897-6909G>A rs532856980 0.00003
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr) rs777489502 0.00003
NM_001368067.1(LDB3):c.361C>T (p.Arg121Cys) rs750606592 0.00002
NM_001368067.1(LDB3):c.410C>T (p.Pro137Leu) rs938329394 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001368067.1(LDB3):c.788G>A (p.Arg263His) rs780518038 0.00002
NM_007078.3(LDB3):c.1001C>A (p.Pro334Gln) rs776058652 0.00002
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr) rs368888118 0.00002
NM_007078.3(LDB3):c.1321C>T (p.Pro441Ser) rs757728320 0.00002
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp) rs145655904 0.00002
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser) rs774224466 0.00002
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg) rs370521488 0.00002
NM_007078.3(LDB3):c.1520C>A (p.Thr507Asn) rs150188572 0.00002
NM_007078.3(LDB3):c.1546C>T (p.Arg516Trp) rs773327911 0.00002
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr) rs1449865053 0.00002
NM_007078.3(LDB3):c.1639C>T (p.Arg547Trp) rs374426474 0.00002
NM_007078.3(LDB3):c.1657C>A (p.His553Asn) rs1488010574 0.00002
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_007078.3(LDB3):c.1703G>A (p.Arg568His) rs769156627 0.00002
NM_007078.3(LDB3):c.1745C>G (p.Thr582Ser) rs754840310 0.00002
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) rs727504944 0.00002
NM_007078.3(LDB3):c.2074G>A (p.Asp692Asn) rs754529329 0.00002
NM_007078.3(LDB3):c.253C>T (p.Arg85Cys) rs780200228 0.00002
NM_007078.3(LDB3):c.338C>T (p.Thr113Met) rs563714303 0.00002
NM_007078.3(LDB3):c.356C>T (p.Ala119Val) rs397517223 0.00002
NM_007078.3(LDB3):c.47G>A (p.Arg16His) rs767986134 0.00002
NM_007078.3(LDB3):c.491C>T (p.Pro164Leu) rs761907380 0.00002
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln) rs61857115 0.00002
NM_007078.3(LDB3):c.608C>T (p.Ser203Leu) rs201538257 0.00002
NM_007078.3(LDB3):c.646A>T (p.Met216Leu) rs765199175 0.00002
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln) rs530979771 0.00002
NM_007078.3(LDB3):c.733G>A (p.Val245Ile) rs573061464 0.00002
NM_007078.3(LDB3):c.818G>A (p.Arg273His) rs763481542 0.00002
NM_007078.3(LDB3):c.897-6831C>T rs886047355 0.00002
NM_001368067.1(LDB3):c.405C>A (p.His135Gln) rs928294708 0.00001
NM_001368067.1(LDB3):c.418G>A (p.Val140Met) rs745329859 0.00001
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser) rs915830221 0.00001
NM_001368067.1(LDB3):c.455C>A (p.Ala152Glu) rs753193786 0.00001
NM_001368067.1(LDB3):c.490G>C (p.Asp164His) rs1000020884 0.00001
NM_001368067.1(LDB3):c.517C>A (p.Gln173Lys) rs1220958570 0.00001
NM_001368067.1(LDB3):c.530A>G (p.Gln177Arg) rs1310394018 0.00001
NM_001368067.1(LDB3):c.545G>A (p.Ser182Asn) rs774522659 0.00001
NM_001368067.1(LDB3):c.766G>A (p.Glu256Lys) rs774307690 0.00001
NM_001368067.1(LDB3):c.772G>C (p.Glu258Gln) rs868365512 0.00001
NM_001368067.1(LDB3):c.776G>A (p.Arg259His) rs557033441 0.00001
NM_001368067.1(LDB3):c.803G>A (p.Arg268His) rs751981682 0.00001
NM_007078.3(LDB3):c.-20C>T rs531819676 0.00001
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly) rs764530865 0.00001
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro) rs755329877 0.00001
NM_007078.3(LDB3):c.1094C>T (p.Ala365Val) rs747011937 0.00001
NM_007078.3(LDB3):c.1129G>A (p.Ala377Thr) rs794729061 0.00001
NM_007078.3(LDB3):c.1132C>T (p.Pro378Ser) rs373546361 0.00001
NM_007078.3(LDB3):c.1147A>G (p.Ser383Gly) rs752615115 0.00001
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) rs777547764 0.00001
NM_007078.3(LDB3):c.1168G>A (p.Ala390Thr) rs748672176 0.00001
NM_007078.3(LDB3):c.11G>A (p.Ser4Asn) rs766405051 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.1269T>G (p.Asn423Lys) rs375894985 0.00001
NM_007078.3(LDB3):c.1298C>T (p.Pro433Leu) rs776138543 0.00001
NM_007078.3(LDB3):c.1313C>A (p.Thr438Asn) rs767914340 0.00001
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) rs397517212 0.00001
NM_007078.3(LDB3):c.13G>A (p.Val5Met) rs773170985 0.00001
NM_007078.3(LDB3):c.1418C>A (p.Pro473His) rs780427609 0.00001
NM_007078.3(LDB3):c.1421C>T (p.Ser474Leu) rs1011836119 0.00001
NM_007078.3(LDB3):c.1446G>A (p.Ala482=) rs745655908 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1480G>A (p.Asp494Asn) rs773233738 0.00001
NM_007078.3(LDB3):c.1486T>G (p.Phe496Val) rs141652573 0.00001
NM_007078.3(LDB3):c.1497G>T (p.Lys499Asn) rs1278770988 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_007078.3(LDB3):c.1556C>A (p.Pro519Gln) rs1309491635 0.00001
NM_007078.3(LDB3):c.158A>G (p.Asp53Gly) rs935307586 0.00001
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly) rs1370639524 0.00001
NM_007078.3(LDB3):c.1664A>G (p.Asn555Ser) rs760635362 0.00001
NM_007078.3(LDB3):c.1677-19C>T rs749512075 0.00001
NM_007078.3(LDB3):c.1690G>A (p.Val564Ile) rs962296772 0.00001
NM_007078.3(LDB3):c.172G>A (p.Asp58Asn) rs730880127 0.00001
NM_007078.3(LDB3):c.1736A>G (p.Tyr579Cys) rs199749907 0.00001
NM_007078.3(LDB3):c.1748C>G (p.Ser583Cys) rs1263835922 0.00001
NM_007078.3(LDB3):c.1786G>A (p.Val596Ile) rs727503130 0.00001
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter) rs727503132 0.00001
NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln) rs747523570 0.00001
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser) rs1349969494 0.00001
NM_007078.3(LDB3):c.1885T>C (p.Trp629Arg) rs773554501 0.00001
NM_007078.3(LDB3):c.1894A>G (p.Thr632Ala) rs770525232 0.00001
NM_007078.3(LDB3):c.1978G>A (p.Asp660Asn) rs1442071380 0.00001
NM_007078.3(LDB3):c.2026G>A (p.Val676Met) rs549994359 0.00001
NM_007078.3(LDB3):c.2037C>T (p.Gly679=) rs754386652 0.00001
NM_007078.3(LDB3):c.2056C>G (p.Leu686Val) rs910863988 0.00001
NM_007078.3(LDB3):c.2060G>A (p.Gly687Asp) rs1230240655 0.00001
NM_007078.3(LDB3):c.2094+10T>C rs769802374 0.00001
NM_007078.3(LDB3):c.2094+5G>A rs1847251877 0.00001
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter) rs771316707 0.00001
NM_007078.3(LDB3):c.2123C>T (p.Pro708Leu) rs774815578 0.00001
NM_007078.3(LDB3):c.2135A>G (p.Lys712Arg) rs1451712853 0.00001
NM_007078.3(LDB3):c.2142C>A (p.Asp714Glu) rs1054918785 0.00001
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr) rs727505129 0.00001
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile) rs397517221 0.00001
NM_007078.3(LDB3):c.254G>A (p.Arg85His) rs200420174 0.00001
NM_007078.3(LDB3):c.269C>G (p.Ser90Cys) rs765975330 0.00001
NM_007078.3(LDB3):c.272C>T (p.Thr91Met) rs769237367 0.00001
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu) rs772912790 0.00001
NM_007078.3(LDB3):c.30C>G (p.Pro10=) rs766817285 0.00001
NM_007078.3(LDB3):c.31G>A (p.Gly11Arg) rs370493508 0.00001
NM_007078.3(LDB3):c.324C>A (p.Asp108Glu) rs1322226509 0.00001
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr) rs768737496 0.00001
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser) rs397517222 0.00001
NM_007078.3(LDB3):c.368G>A (p.Ser123Asn) rs754266629 0.00001
NM_007078.3(LDB3):c.380G>A (p.Arg127Lys) rs1365412037 0.00001
NM_007078.3(LDB3):c.395C>T (p.Thr132Ile) rs146527589 0.00001
NM_007078.3(LDB3):c.415A>G (p.Arg139Gly) rs199801766 0.00001
NM_007078.3(LDB3):c.433G>T (p.Ala145Ser) rs758814399 0.00001
NM_007078.3(LDB3):c.437T>C (p.Phe146Ser) rs1480923559 0.00001
NM_007078.3(LDB3):c.442C>T (p.Arg148Trp) rs536186237 0.00001
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) rs751254270 0.00001
NM_007078.3(LDB3):c.467C>T (p.Ala156Val) rs1243384140 0.00001
NM_007078.3(LDB3):c.488C>G (p.Pro163Arg) rs776608362 0.00001
NM_007078.3(LDB3):c.501C>A (p.Ser167Arg) rs1183240131 0.00001
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly) rs794729058 0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00001
NM_007078.3(LDB3):c.56G>C (p.Gly19Ala) rs753314972 0.00001
NM_007078.3(LDB3):c.575C>T (p.Pro192Leu) rs758182278 0.00001
NM_007078.3(LDB3):c.592C>T (p.Pro198Ser) rs1060501318 0.00001
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile) rs121908337 0.00001
NM_007078.3(LDB3):c.650G>A (p.Ser217Asn) rs1246502816 0.00001
NM_007078.3(LDB3):c.689+3902G>A rs1057521576 0.00001
NM_007078.3(LDB3):c.716T>C (p.Val239Ala) rs774595610 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_007078.3(LDB3):c.72C>A (p.Asn24Lys) rs1323002546 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_007078.3(LDB3):c.778G>A (p.Ala260Thr) rs777637914 0.00001
NM_007078.3(LDB3):c.782A>C (p.Asp261Ala) rs1285921374 0.00001
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr) rs146414300 0.00001
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys) rs776803568 0.00001
NM_007078.3(LDB3):c.817C>T (p.Arg273Cys) rs141116920 0.00001
NM_007078.3(LDB3):c.827G>A (p.Arg276His) rs774519585 0.00001
NM_007078.3(LDB3):c.829A>T (p.Ile277Phe) rs78680509 0.00001
NM_007078.3(LDB3):c.845C>T (p.Thr282Met) rs199811186 0.00001
NM_007078.3(LDB3):c.858C>T (p.Phe286=) rs764056994 0.00001
NM_007078.3(LDB3):c.859A>G (p.Met287Val) rs1353972543 0.00001
NM_007078.3(LDB3):c.869C>T (p.Pro290Leu) rs775180716 0.00001
NM_007078.3(LDB3):c.890G>A (p.Arg297Lys) rs1266510625 0.00001
NM_007078.3(LDB3):c.892T>G (p.Ser298Ala) rs953198544 0.00001
NM_007078.3(LDB3):c.896+5G>A rs368078924 0.00001
NM_007078.3(LDB3):c.897-11C>G rs766463668 0.00001
NM_007078.3(LDB3):c.897-1_897del rs1354084230 0.00001
NM_007078.3(LDB3):c.897-6719C>T rs975012427 0.00001
NM_007078.3(LDB3):c.897-6861G>A rs1458669091 0.00001
NM_007078.3(LDB3):c.914C>A (p.Ala305Glu) rs544084461 0.00001
NM_007078.3(LDB3):c.917C>T (p.Pro306Leu) rs955622381 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_007078.3(LDB3):c.938C>T (p.Thr313Ile) rs367882377 0.00001
NM_007078.3(LDB3):c.940A>G (p.Thr314Ala) rs756910859 0.00001
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr) rs151219713 0.00001
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr) rs749520121 0.00001
NC_000010.10:g.(?_88428443)_(88428547_?)dup
NC_000010.10:g.(?_88428449)_(88428561_?)dup
NC_000010.10:g.(?_88428449)_(88492733_?)del
NC_000010.10:g.(?_88428449)_(88659903_?)dup
NC_000010.10:g.(?_88445415)_(88451842_?)del
NC_000010.10:g.(?_88469642)_(88469827_?)del
NC_000010.10:g.(?_88469652)_(88492743_?)dup
NC_000010.11:g.(?_86668564)_(86700053_?)del
NC_000010.11:g.(?_86668672)_(86710070_?)del
NM_001368067.1(LDB3):c.322-1G>A
NM_001368067.1(LDB3):c.323T>C (p.Val108Ala)
NM_001368067.1(LDB3):c.326T>G (p.Val109Gly) rs2132390366
NM_001368067.1(LDB3):c.332A>G (p.Asn111Ser) rs1845427971
NM_001368067.1(LDB3):c.338C>T (p.Pro113Leu)
NM_001368067.1(LDB3):c.344+2T>C rs1264291601
NM_001368067.1(LDB3):c.349G>C (p.Asp117His) rs121908338
NM_001368067.1(LDB3):c.353A>C (p.Tyr118Ser) rs1845519689
NM_001368067.1(LDB3):c.355C>T (p.Gln119Ter) rs1564639205
NM_001368067.1(LDB3):c.358G>A (p.Glu120Lys) rs773370724
NM_001368067.1(LDB3):c.362G>A (p.Arg121His)
NM_001368067.1(LDB3):c.364T>A (p.Phe122Ile) rs1845520743
NM_001368067.1(LDB3):c.369C>A (p.Asn123Lys)
NM_001368067.1(LDB3):c.371C>T (p.Pro124Leu)
NM_001368067.1(LDB3):c.374G>A (p.Ser125Asn)
NM_001368067.1(LDB3):c.380T>C (p.Leu127Pro)
NM_001368067.1(LDB3):c.382A>C (p.Lys128Gln) rs2132396809
NM_001368067.1(LDB3):c.389C>T (p.Ser130Leu)
NM_001368067.1(LDB3):c.405C>G (p.His135Gln) rs928294708
NM_001368067.1(LDB3):c.410C>A (p.Pro137His)
NM_001368067.1(LDB3):c.413T>A (p.Ile138Asn)
NM_001368067.1(LDB3):c.433G>C (p.Gly145Arg)
NM_001368067.1(LDB3):c.440C>G (p.Ala147Gly)
NM_001368067.1(LDB3):c.443C>T (p.Thr148Ile)
NM_001368067.1(LDB3):c.448A>G (p.Ile150Val)
NM_001368067.1(LDB3):c.452A>G (p.His151Arg)
NM_001368067.1(LDB3):c.455C>T (p.Ala152Val) rs753193786
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001368067.1(LDB3):c.467C>T (p.Thr156Met) rs778658354
NM_001368067.1(LDB3):c.472A>G (p.Ile158Val) rs1845528164
NM_001368067.1(LDB3):c.480G>A (p.Met160Ile) rs1413446799
NM_001368067.1(LDB3):c.490G>A (p.Asp164Asn)
NM_001368067.1(LDB3):c.491A>G (p.Asp164Gly)
NM_001368067.1(LDB3):c.503A>T (p.Asp168Val)
NM_001368067.1(LDB3):c.511G>T (p.Ala171Ser) rs373632943
NM_001368067.1(LDB3):c.518A>T (p.Gln173Leu)
NM_001368067.1(LDB3):c.544A>C (p.Ser182Arg)
NM_001368067.1(LDB3):c.772G>A (p.Glu258Lys) rs868365512
NM_001368067.1(LDB3):c.775C>T (p.Arg259Cys)
NM_001368067.1(LDB3):c.776G>T (p.Arg259Leu)
NM_001368067.1(LDB3):c.779A>C (p.Asn260Thr)
NM_001368067.1(LDB3):c.779A>G (p.Asn260Ser) rs1299041306
NM_001368067.1(LDB3):c.779A>T (p.Asn260Ile) rs1299041306
NM_001368067.1(LDB3):c.790T>A (p.Phe264Ile)
NM_001368067.1(LDB3):c.802C>G (p.Arg268Gly) rs121908335
NM_001368067.1(LDB3):c.810G>A (p.Trp270Ter) rs1428065968
NM_001368067.1(LDB3):c.829C>A (p.Gln277Lys)
NM_001368067.1(LDB3):c.830A>C (p.Gln277Pro) rs1589656313
NM_001368067.1(LDB3):c.841G>A (p.Val281Ile) rs1846156698
NM_001368067.1(LDB3):c.847del (p.Ser283fs)
NM_001368067.1(LDB3):c.848G>A (p.Ser283Asn)
NM_007078.2(LDB3):c.-23-?_93+?dup
NM_007078.3(LDB3):c.101C>G (p.Pro34Arg)
NM_007078.3(LDB3):c.1023C>T (p.Ala341=)
NM_007078.3(LDB3):c.1027A>G (p.Thr343Ala)
NM_007078.3(LDB3):c.1028C>T (p.Thr343Ile)
NM_007078.3(LDB3):c.1035C>G (p.Ile345Met) rs121908336
NM_007078.3(LDB3):c.1045_1050dup (p.Ser349_Thr350dup) rs1276121533
NM_007078.3(LDB3):c.1069C>T (p.Pro357Ser)
NM_007078.3(LDB3):c.1074C>A (p.Ala358=) rs45459491
NM_007078.3(LDB3):c.1086-11C>A
NM_007078.3(LDB3):c.1086-12G>C
NM_007078.3(LDB3):c.1086-19C>G
NM_007078.3(LDB3):c.1088C>G (p.Pro363Arg)
NM_007078.3(LDB3):c.108C>G (p.Ser36Arg) rs2132360019
NM_007078.3(LDB3):c.10A>C (p.Ser4Arg) rs727505295
NM_007078.3(LDB3):c.110A>G (p.Lys37Arg)
NM_007078.3(LDB3):c.110A>T (p.Lys37Met) rs2132360031
NM_007078.3(LDB3):c.1115T>C (p.Val372Ala)
NM_007078.3(LDB3):c.1121C>T (p.Ala374Val) rs1554860812
NM_007078.3(LDB3):c.1134T>C (p.Pro378=)
NM_007078.3(LDB3):c.1150T>A (p.Tyr384Asn) rs1554860857
NM_007078.3(LDB3):c.1156G>A (p.Glu386Lys)
NM_007078.3(LDB3):c.115G>C (p.Ala39Pro) rs1844983837
NM_007078.3(LDB3):c.1161C>T (p.Gly387=)
NM_007078.3(LDB3):c.1165G>C (p.Ala389Pro)
NM_007078.3(LDB3):c.1166_1167inv (p.Ala389Gly)
NM_007078.3(LDB3):c.1184C>T (p.Pro395Leu) rs2132466193
NM_007078.3(LDB3):c.1186C>A (p.Arg396=)
NM_007078.3(LDB3):c.1186C>G (p.Arg396Gly)
NM_007078.3(LDB3):c.1186C>T (p.Arg396Trp)
NM_007078.3(LDB3):c.1187G>A (p.Arg396Gln)
NM_007078.3(LDB3):c.1205G>A (p.Ser402Asn)
NM_007078.3(LDB3):c.1206C>T (p.Ser402=)
NM_007078.3(LDB3):c.1211G>T (p.Arg404Leu)
NM_007078.3(LDB3):c.1226A>G (p.Gln409Arg)
NM_007078.3(LDB3):c.1231+12A>G
NM_007078.3(LDB3):c.1231+14dup
NM_007078.3(LDB3):c.1231+4A>C rs2132466323
NM_007078.3(LDB3):c.1231+6_1231+7delinsGC rs2132466334
NM_007078.3(LDB3):c.1231+8del
NM_007078.3(LDB3):c.1231G>C (p.Val411Leu) rs1846585105
NM_007078.3(LDB3):c.1232-11G>T
NM_007078.3(LDB3):c.1232-19T>G
NM_007078.3(LDB3):c.1232-6_1232-5delinsGG
NM_007078.3(LDB3):c.1234C>G (p.Pro412Ala)
NM_007078.3(LDB3):c.1234C>T (p.Pro412Ser)
NM_007078.3(LDB3):c.1243A>T (p.Thr415Ser) rs2132481387
NM_007078.3(LDB3):c.1248C>T (p.Tyr416=)
NM_007078.3(LDB3):c.1253C>T (p.Pro418Leu) rs141870580
NM_007078.3(LDB3):c.1264G>A (p.Ala422Thr)
NM_007078.3(LDB3):c.1274G>A (p.Ser425Asn)
NM_007078.3(LDB3):c.1287C>T (p.Tyr429=)
NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser) rs746183666
NM_007078.3(LDB3):c.1289C>T (p.Thr430Ile) rs746183666
NM_007078.3(LDB3):c.1294del (p.Ser432fs) rs756413215
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1]) rs397517209
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3]) rs397517209
NM_007078.3(LDB3):c.1297C>A (p.Pro433Thr)
NM_007078.3(LDB3):c.1297C>G (p.Pro433Ala)
NM_007078.3(LDB3):c.1310A>G (p.Tyr437Cys)
NM_007078.3(LDB3):c.1313C>G (p.Thr438Ser) rs767914340
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val) rs786205349
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
NM_007078.3(LDB3):c.1328C>T (p.Pro443Leu) rs1554863327
NM_007078.3(LDB3):c.1336A>G (p.Thr446Ala)
NM_007078.3(LDB3):c.1337C>A (p.Thr446Asn)
NM_007078.3(LDB3):c.1337C>T (p.Thr446Ile) rs200476126
NM_007078.3(LDB3):c.1341C>G (p.Pro447=)
NM_007078.3(LDB3):c.1345C>T (p.Pro449Ser)
NM_007078.3(LDB3):c.1351C>G (p.Pro451Ala) rs1589674758
NM_007078.3(LDB3):c.1361C>T (p.Thr454Ile) rs780337957
NM_007078.3(LDB3):c.1363C>T (p.Pro455Ser)
NM_007078.3(LDB3):c.1369C>T (p.Pro457Ser)
NM_007078.3(LDB3):c.1370C>T (p.Pro457Leu)
NM_007078.3(LDB3):c.1379C>T (p.Ala460Val)
NM_007078.3(LDB3):c.1387C>T (p.Pro463Ser)
NM_007078.3(LDB3):c.1388C>A (p.Pro463His)
NM_007078.3(LDB3):c.1388C>T (p.Pro463Leu)
NM_007078.3(LDB3):c.1396G>A (p.Ala466Thr)
NM_007078.3(LDB3):c.1414G>C (p.Ala472Pro) rs546736974
NM_007078.3(LDB3):c.1415C>T (p.Ala472Val)
NM_007078.3(LDB3):c.1420T>C (p.Ser474Pro)
NM_007078.3(LDB3):c.1426G>T (p.Ala476Ser) rs1222316982
NM_007078.3(LDB3):c.1437G>T (p.Gly479=)
NM_007078.3(LDB3):c.1438G>A (p.Gly480Ser)
NM_007078.3(LDB3):c.1440C>T (p.Gly480=)
NM_007078.3(LDB3):c.1445C>G (p.Ala482Gly)
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val) rs774313535
NM_007078.3(LDB3):c.1446_1454del (p.Glu483_Ala485del) rs1398383245
NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys) rs950395877
NM_007078.3(LDB3):c.145G>A (p.Val49Met) rs200645175
NM_007078.3(LDB3):c.145G>C (p.Val49Leu) rs200645175
NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg) rs1589675054
NM_007078.3(LDB3):c.1471G>A (p.Val491Met) rs397517215
NM_007078.3(LDB3):c.1471G>T (p.Val491Leu) rs397517215
NM_007078.3(LDB3):c.1483A>G (p.Ser495Gly) rs2132482506
NM_007078.3(LDB3):c.1488C>T (p.Phe496=)
NM_007078.3(LDB3):c.1497G>C (p.Lys499Asn) rs1278770988
NM_007078.3(LDB3):c.149T>C (p.Val50Ala) rs1844986603
NM_007078.3(LDB3):c.1505C>T (p.Pro502Leu) rs528611881
NM_007078.3(LDB3):c.1508G>A (p.Gly503Asp) rs777459539
NM_007078.3(LDB3):c.1512G>A (p.Lys504=)
NM_007078.3(LDB3):c.1529G>A (p.Ser510Asn)
NM_007078.3(LDB3):c.152C>T (p.Ala51Val)
NM_007078.3(LDB3):c.1535A>G (p.Gln512Arg) rs138951890
NM_007078.3(LDB3):c.1538C>A (p.Thr513Asn) rs748433510
NM_007078.3(LDB3):c.1538C>T (p.Thr513Ile) rs748433510
NM_007078.3(LDB3):c.1543C>A (p.Pro515Thr)
NM_007078.3(LDB3):c.1543C>T (p.Pro515Ser)
NM_007078.3(LDB3):c.1547G>T (p.Arg516Leu)
NM_007078.3(LDB3):c.1565C>A (p.Thr522Asn) rs1846888303
NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile) rs1846888303
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala) rs794729062
NM_007078.3(LDB3):c.1570G>A (p.Ala524Thr)
NM_007078.3(LDB3):c.1574G>C (p.Gly525Ala)
NM_007078.3(LDB3):c.157G>A (p.Asp53Asn) rs2132360328
NM_007078.3(LDB3):c.1591C>G (p.Leu531Val) rs2132482794
NM_007078.3(LDB3):c.1591C>T (p.Leu531Phe)
NM_007078.3(LDB3):c.1598G>T (p.Arg533Met)
NM_007078.3(LDB3):c.1599G>C (p.Arg533Ser) rs1846890284
NM_007078.3(LDB3):c.1602_1603insTGCCAC (p.Gly534_Thr535insCysHis)
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer) rs1589675306
NM_007078.3(LDB3):c.1604C>T (p.Thr535Ile)
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala) rs727503128
NM_007078.3(LDB3):c.160G>C (p.Gly54Arg) rs201786090
NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter) rs1004518756
NM_007078.3(LDB3):c.1622G>A (p.Arg541Gln)
NM_007078.3(LDB3):c.1631C>A (p.Ala544Asp) rs1265432173
NM_007078.3(LDB3):c.1647A>G (p.Pro549=)
NM_007078.3(LDB3):c.1649T>C (p.Leu550Pro) rs1589675409
NM_007078.3(LDB3):c.1654G>T (p.Gly552Cys) rs771007816
NM_007078.3(LDB3):c.1671C>T (p.Val557=)
NM_007078.3(LDB3):c.1676G>T (p.Arg559Leu)
NM_007078.3(LDB3):c.1677-18C>T
NM_007078.3(LDB3):c.1677G>A (p.Arg559=) rs1846936388
NM_007078.3(LDB3):c.1679G>A (p.Gly560Asp)
NM_007078.3(LDB3):c.1679G>T (p.Gly560Val)
NM_007078.3(LDB3):c.167A>G (p.Asn56Ser) rs751482077
NM_007078.3(LDB3):c.1687C>T (p.Leu563=)
NM_007078.3(LDB3):c.1689G>T (p.Leu563=)
NM_007078.3(LDB3):c.1700G>A (p.Gly567Asp) rs2132485348
NM_007078.3(LDB3):c.1702C>A (p.Arg568Ser)
NM_007078.3(LDB3):c.1702C>T (p.Arg568Cys)
NM_007078.3(LDB3):c.1711C>A (p.His571Asn) rs777095535
NM_007078.3(LDB3):c.1714C>T (p.Pro572Ser)
NM_007078.3(LDB3):c.1719A>G (p.Glu573=)
NM_007078.3(LDB3):c.1725C>T (p.Phe575=)
NM_007078.3(LDB3):c.1741A>C (p.Lys581Gln) rs751506530
NM_007078.3(LDB3):c.1745C>T (p.Thr582Ile)
NM_007078.3(LDB3):c.1752G>C (p.Leu584=) rs1589676711
NM_007078.3(LDB3):c.175A>G (p.Thr59Ala)
NM_007078.3(LDB3):c.1760T>C (p.Val587Ala)
NM_007078.3(LDB3):c.1761G>A (p.Val587=)
NM_007078.3(LDB3):c.1763G>A (p.Cys588Tyr) rs1449207508
NM_007078.3(LDB3):c.1771G>C (p.Glu591Gln)
NM_007078.3(LDB3):c.1772A>G (p.Glu591Gly)
NM_007078.3(LDB3):c.1777C>A (p.Gln593Lys) rs2132485566
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro) rs747523570
NM_007078.3(LDB3):c.1812A>G (p.Gln604=) rs1846942056
NM_007078.3(LDB3):c.1821C>T (p.Ala607=)
NM_007078.3(LDB3):c.1824_1825delinsAA (p.Leu609Met) rs2132485761
NM_007078.3(LDB3):c.1827G>C (p.Leu609=)
NM_007078.3(LDB3):c.182C>T (p.Thr61Ile)
NM_007078.3(LDB3):c.1835A>G (p.Lys612Arg)
NM_007078.3(LDB3):c.1835A>T (p.Lys612Met)
NM_007078.3(LDB3):c.1845C>T (p.Thr615=)
NM_007078.3(LDB3):c.184C>T (p.His62Tyr) rs779234633
NM_007078.3(LDB3):c.1857+16C>T
NM_007078.3(LDB3):c.1857+3A>G rs367942602
NM_007078.3(LDB3):c.1857+6T>C rs2132485825
NM_007078.3(LDB3):c.1857G>T (p.Gly619=)
NM_007078.3(LDB3):c.1858-15G>A
NM_007078.3(LDB3):c.1858-3C>A rs748601174
NM_007078.3(LDB3):c.1858-6C>T rs2132487012
NM_007078.3(LDB3):c.1864A>T (p.Met622Leu)
NM_007078.3(LDB3):c.1867C>A (p.His623Asn)
NM_007078.3(LDB3):c.1882A>G (p.Thr628Ala)
NM_007078.3(LDB3):c.1888C>A (p.His630Asn) rs2132487146
NM_007078.3(LDB3):c.1895C>A (p.Thr632Asn) rs1195333947
NM_007078.3(LDB3):c.1895C>G (p.Thr632Ser) rs1195333947
NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)
NM_007078.3(LDB3):c.1902C>A (p.Phe634Leu) rs773904344
NM_007078.3(LDB3):c.1903G>C (p.Val635Leu) rs45618633
NM_007078.3(LDB3):c.1904T>A (p.Val635Asp) rs567014755
NM_007078.3(LDB3):c.1907G>A (p.Cys636Tyr) rs397517218
NM_007078.3(LDB3):c.1935C>G (p.Asn645Lys) rs1846970016
NM_007078.3(LDB3):c.1939C>G (p.Leu647Val)
NM_007078.3(LDB3):c.1939C>T (p.Leu647Phe)
NM_007078.3(LDB3):c.1948A>G (p.Met650Val)
NM_007078.3(LDB3):c.1954G>C (p.Asp652His)
NM_007078.3(LDB3):c.1957G>A (p.Gly653Arg)
NM_007078.3(LDB3):c.1957G>C (p.Gly653Arg) rs149945820
NM_007078.3(LDB3):c.1960G>A (p.Glu654Lys)
NM_007078.3(LDB3):c.1973A>G (p.Glu658Gly)
NM_007078.3(LDB3):c.1978+13C>T
NM_007078.3(LDB3):c.1978+17G>A
NM_007078.3(LDB3):c.1978+2_1978+5del rs1554864768
NM_007078.3(LDB3):c.1978+6A>G rs1846973492
NM_007078.3(LDB3):c.1979-20C>T
NM_007078.3(LDB3):c.1979-7A>C
NM_007078.3(LDB3):c.1985T>A (p.Ile662Asn) rs2132503371
NM_007078.3(LDB3):c.1990C>T (p.Leu664=)
NM_007078.3(LDB3):c.1997G>A (p.Ser666Asn)
NM_007078.3(LDB3):c.2008C>T (p.His670Tyr)
NM_007078.3(LDB3):c.2027del (p.Val676fs) rs2132503498
NM_007078.3(LDB3):c.2031G>T (p.Glu677Asp)
NM_007078.3(LDB3):c.2049C>G (p.Ile683Met)
NM_007078.3(LDB3):c.2055C>T (p.Ala685=)
NM_007078.3(LDB3):c.2062C>T (p.His688Tyr)
NM_007078.3(LDB3):c.2066C>G (p.Thr689Ser) rs1847250272
NM_007078.3(LDB3):c.2085C>T (p.Phe695=)
NM_007078.3(LDB3):c.2092G>T (p.Ala698Ser) rs45577134
NM_007078.3(LDB3):c.2094+3A>G rs1847251626
NM_007078.3(LDB3):c.2094+4T>A
NM_007078.3(LDB3):c.2095-18G>T
NM_007078.3(LDB3):c.2103T>C (p.His701=)
NM_007078.3(LDB3):c.2104G>T (p.Val702Leu) rs773235586
NM_007078.3(LDB3):c.2108A>C (p.Asn703Thr)
NM_007078.3(LDB3):c.2108A>G (p.Asn703Ser)
NM_007078.3(LDB3):c.2109T>A (p.Asn703Lys)
NM_007078.3(LDB3):c.2110C>A (p.Leu704Met)
NM_007078.3(LDB3):c.2119C>G (p.Gln707Glu)
NM_007078.3(LDB3):c.211T>G (p.Ser71Ala)
NM_007078.3(LDB3):c.2128T>C (p.Tyr710His) rs1847526825
NM_007078.3(LDB3):c.212C>G (p.Ser71Cys) rs772249948
NM_007078.3(LDB3):c.2134AAG[1] (p.Lys713del)
NM_007078.3(LDB3):c.2136del (p.Lys713fs) rs1847527465
NM_007078.3(LDB3):c.2137A>G (p.Lys713Glu)
NM_007078.3(LDB3):c.2147C>A (p.Pro716His)
NM_007078.3(LDB3):c.2147C>T (p.Pro716Leu)
NM_007078.3(LDB3):c.2150T>G (p.Leu717Arg) rs753237785
NM_007078.3(LDB3):c.2155A>C (p.Lys719Gln) rs397517220
NM_007078.3(LDB3):c.2164G>T (p.Ala722Ser)
NM_007078.3(LDB3):c.2167C>T (p.His723Tyr)
NM_007078.3(LDB3):c.2173A>C (p.Ile725Leu) rs1554870749
NM_007078.3(LDB3):c.2173A>G (p.Ile725Val) rs1554870749
NM_007078.3(LDB3):c.2174T>C (p.Ile725Thr) rs748399477
NM_007078.3(LDB3):c.2175C>T (p.Ile725=)
NM_007078.3(LDB3):c.2177A>G (p.Asn726Ser) rs1335747231
NM_007078.3(LDB3):c.2180T>C (p.Leu727Ser)
NM_007078.3(LDB3):c.218G>A (p.Ser73Asn)
NM_007078.3(LDB3):c.221A>T (p.Tyr74Phe)
NM_007078.3(LDB3):c.23C>A (p.Thr8Asn) rs1060501317
NM_007078.3(LDB3):c.246-11G>A
NM_007078.3(LDB3):c.246-1G>A
NM_007078.3(LDB3):c.246-3C>T
NM_007078.3(LDB3):c.256C>T (p.Pro86Ser)
NM_007078.3(LDB3):c.269C>T (p.Ser90Phe)
NM_007078.3(LDB3):c.280C>T (p.Pro94Ser)
NM_007078.3(LDB3):c.287T>C (p.Val96Ala) rs794729056
NM_007078.3(LDB3):c.290A>G (p.Gln97Arg) rs762580653
NM_007078.3(LDB3):c.296C>T (p.Pro99Leu)
NM_007078.3(LDB3):c.299T>C (p.Leu100Pro)
NM_007078.3(LDB3):c.304G>A (p.Val102Met) rs1845031056
NM_007078.3(LDB3):c.31G>T (p.Gly11Trp)
NM_007078.3(LDB3):c.322-1G>A rs794729059
NM_007078.3(LDB3):c.327del (p.Ala110fs)
NM_007078.3(LDB3):c.329C>T (p.Ala110Val) rs1204980784
NM_007078.3(LDB3):c.359C>A (p.Pro120His) rs1365965245
NM_007078.3(LDB3):c.377C>T (p.Ala126Val)
NM_007078.3(LDB3):c.385A>T (p.Ser129Cys)
NM_007078.3(LDB3):c.389_390insCAGGCACCC (p.Pro130_Gly131insArgHisPro)
NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1]) rs750334087
NM_007078.3(LDB3):c.398_454dup (p.Ala151_Phe152insSerGlyThrProGluLeuArgProThrPheSerProAlaPheSerArgProSerAla)
NM_007078.3(LDB3):c.424T>C (p.Phe142Leu) rs2132371597
NM_007078.3(LDB3):c.456CTC[1] (p.Ser154del)
NM_007078.3(LDB3):c.464T>C (p.Leu155Pro)
NM_007078.3(LDB3):c.466G>C (p.Ala156Pro) rs200596619
NM_007078.3(LDB3):c.469G>A (p.Glu157Lys) rs770678454
NM_007078.3(LDB3):c.469G>C (p.Glu157Gln)
NM_007078.3(LDB3):c.46C>T (p.Arg16Cys)
NM_007078.3(LDB3):c.472G>T (p.Ala158Ser)
NM_007078.3(LDB3):c.473C>T (p.Ala158Val)
NM_007078.3(LDB3):c.494G>T (p.Arg165Leu) rs61857115
NM_007078.3(LDB3):c.4T>A (p.Ser2Thr) rs1564626023
NM_007078.3(LDB3):c.508G>T (p.Ala170Ser)
NM_007078.3(LDB3):c.50T>C (p.Leu17Pro) rs2132320405
NM_007078.3(LDB3):c.525G>C (p.Glu175Asp) rs757099637
NM_007078.3(LDB3):c.526G>A (p.Gly176Arg) rs149167391
NM_007078.3(LDB3):c.526G>C (p.Gly176Arg)
NM_007078.3(LDB3):c.532C>T (p.Arg178Trp) rs730880128
NM_007078.3(LDB3):c.541C>T (p.Leu181Phe) rs1589623326
NM_007078.3(LDB3):c.544G>A (p.Gly182Ser)
NM_007078.3(LDB3):c.545G>A (p.Gly182Asp) rs2132372366
NM_007078.3(LDB3):c.548del (p.Pro183fs) rs1285270306
NM_007078.3(LDB3):c.55G>A (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.55G>C (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.55G>T (p.Gly19Trp) rs777413488
NM_007078.3(LDB3):c.567_568delinsTT (p.Ser190Cys) rs2132372538
NM_007078.3(LDB3):c.56G>A (p.Gly19Glu) rs753314972
NM_007078.3(LDB3):c.573G>T (p.Gln191His)
NM_007078.3(LDB3):c.574C>T (p.Pro192Ser)
NM_007078.3(LDB3):c.575C>G (p.Pro192Arg) rs758182278
NM_007078.3(LDB3):c.58G>A (p.Gly20Ser)
NM_007078.3(LDB3):c.59G>A (p.Gly20Asp) rs1844291597
NM_007078.3(LDB3):c.59G>T (p.Gly20Val)
NM_007078.3(LDB3):c.614A>C (p.Glu205Ala)
NM_007078.3(LDB3):c.61A>G (p.Lys21Glu)
NM_007078.3(LDB3):c.626A>T (p.Glu209Val) rs1845153117
NM_007078.3(LDB3):c.662A>G (p.Lys221Arg)
NM_007078.3(LDB3):c.680T>A (p.Leu227His) rs888143005
NM_007078.3(LDB3):c.685G>A (p.Gly229Arg) rs1383872346
NM_007078.3(LDB3):c.686G>C (p.Gly229Ala) rs1131691665
NM_007078.3(LDB3):c.689+3901A>G
NM_007078.3(LDB3):c.690-17CT[2]
NM_007078.3(LDB3):c.690-4618C>A rs764620834
NM_007078.3(LDB3):c.690-4618C>T
NM_007078.3(LDB3):c.690-4619G>A
NM_007078.3(LDB3):c.690-4619_690-4618delinsTA rs1060501314
NM_007078.3(LDB3):c.690-4621A>T rs370053163
NM_007078.3(LDB3):c.690-4830C>A rs2132396540
NM_007078.3(LDB3):c.691A>T (p.Ser231Cys)
NM_007078.3(LDB3):c.701T>C (p.Ile234Thr)
NM_007078.3(LDB3):c.705G>C (p.Lys235Asn)
NM_007078.3(LDB3):c.706G>C (p.Asp236His)
NM_007078.3(LDB3):c.721A>G (p.Ser241Gly)
NM_007078.3(LDB3):c.722G>A (p.Ser241Asn)
NM_007078.3(LDB3):c.730C>G (p.Pro244Ala) rs1205511323
NM_007078.3(LDB3):c.732C>G (p.Pro244=)
NM_007078.3(LDB3):c.74T>C (p.Met25Thr)
NM_007078.3(LDB3):c.763A>G (p.Lys255Glu)
NM_007078.3(LDB3):c.76C>T (p.Pro26Ser) rs778865072
NM_007078.3(LDB3):c.797G>A (p.Arg266His)
NM_007078.3(LDB3):c.805A>C (p.Asn269His) rs1367297073
NM_007078.3(LDB3):c.806A>G (p.Asn269Ser) rs1307504553
NM_007078.3(LDB3):c.80T>C (p.Leu27Pro) rs1057517864
NM_007078.3(LDB3):c.815C>T (p.Ser272Phe)
NM_007078.3(LDB3):c.833T>G (p.Leu278Arg) rs1845789692
NM_007078.3(LDB3):c.836C>G (p.Ala279Gly) rs2132415804
NM_007078.3(LDB3):c.83C>G (p.Thr28Ser)
NM_007078.3(LDB3):c.859+20G>A
NM_007078.3(LDB3):c.859+3G>A rs376313045
NM_007078.3(LDB3):c.859+5G>C
NM_007078.3(LDB3):c.860-22_860-12del rs727504602
NM_007078.3(LDB3):c.860-3C>T
NM_007078.3(LDB3):c.860-6C>G
NM_007078.3(LDB3):c.868C>A (p.Pro290Thr)
NM_007078.3(LDB3):c.86T>A (p.Ile29Asn)
NM_007078.3(LDB3):c.878A>C (p.Glu293Ala) rs1288594486
NM_007078.3(LDB3):c.886C>T (p.Arg296Ter) rs1060501316
NM_007078.3(LDB3):c.891G>T (p.Arg297Ser) rs374336814
NM_007078.3(LDB3):c.892T>C (p.Ser298Pro) rs953198544
NM_007078.3(LDB3):c.896+6695T>C rs1846150336
NM_007078.3(LDB3):c.896+6814G>A rs1846157787
NM_007078.3(LDB3):c.896+6872G>A rs1037329839
NM_007078.3(LDB3):c.896+6957G>A rs886047354
NM_007078.3(LDB3):c.897-6525T>C rs886047356
NM_007078.3(LDB3):c.897-6702C>G rs1188752285
NM_007078.3(LDB3):c.897-6707G>A rs537660741
NM_007078.3(LDB3):c.897-6759C>G rs11594242
NM_007078.3(LDB3):c.897-7T>A rs1846448550
NM_007078.3(LDB3):c.897C>T (p.Ser299=)
NM_007078.3(LDB3):c.89C>A (p.Ser30Tyr) rs1844293917
NM_007078.3(LDB3):c.89C>G (p.Ser30Cys)
NM_007078.3(LDB3):c.904A>G (p.Ile302Val)
NM_007078.3(LDB3):c.913G>C (p.Ala305Pro) rs573547650
NM_007078.3(LDB3):c.914C>T (p.Ala305Val)
NM_007078.3(LDB3):c.915G>A (p.Ala305=) rs753526743
NM_007078.3(LDB3):c.91C>G (p.Arg31Gly) rs367792378
NM_007078.3(LDB3):c.923G>C (p.Cys308Ser)
NM_007078.3(LDB3):c.928A>G (p.Ser310Gly)
NM_007078.3(LDB3):c.92G>A (p.Arg31Gln) rs1410128172
NM_007078.3(LDB3):c.930C>A (p.Ser310Arg)
NM_007078.3(LDB3):c.932A>C (p.Gln311Pro)
NM_007078.3(LDB3):c.934G>A (p.Ala312Thr)
NM_007078.3(LDB3):c.937A>C (p.Thr313Pro) rs1310203563
NM_007078.3(LDB3):c.937A>G (p.Thr313Ala)
NM_007078.3(LDB3):c.93G>A (p.Arg31=) rs1564626245
NM_007078.3(LDB3):c.941C>T (p.Thr314Ile)
NM_007078.3(LDB3):c.945G>C (p.Pro315=)
NM_007078.3(LDB3):c.94A>G (p.Ile32Val)
NM_007078.3(LDB3):c.953C>A (p.Pro318His) rs1846452720
NM_007078.3(LDB3):c.960T>C (p.Ser320=)
NM_007078.3(LDB3):c.961G>A (p.Ala321Thr)
NM_007078.3(LDB3):c.975_992del (p.Ala327_Ala332del)
NM_007078.3(LDB3):c.990T>C (p.Ser330=)
NM_007078.3(LDB3):c.998C>T (p.Ser333Leu) rs1458557837

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