ClinVar Miner

List of variants studied for Myofibrillar myopathy 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 963
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_007078.3(LDB3):c.1903G>A (p.Val635Ile) rs45618633 0.01846
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_007078.3(LDB3):c.1014A>G (p.Thr338=) rs150209221 0.00450
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00369
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_007078.3(LDB3):c.954C>T (p.Pro318=) rs45603139 0.00168
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435 0.00096
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_007078.3(LDB3):c.295C>T (p.Pro99Ser) rs201693259 0.00088
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr) rs201968775 0.00054
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535 0.00054
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr) rs147042608 0.00051
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_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_007078.3(LDB3):c.732C>T (p.Pro244=) rs144509718 0.00034
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_007078.3(LDB3):c.1971C>T (p.Cys657=) rs140552419 0.00025
NM_007078.3(LDB3):c.1503C>T (p.Ala501=) rs147692024 0.00024
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.1911G>A (p.Ala637=) rs150710377 0.00020
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.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_007078.3(LDB3):c.1572G>A (p.Ala524=) rs149423035 0.00017
NM_007078.3(LDB3):c.1858-10T>C rs202208256 0.00017
NM_007078.3(LDB3):c.-24+41G>A rs45578532 0.00016
NM_007078.3(LDB3):c.159C>T (p.Asp53=) rs200114285 0.00016
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.492G>T (p.Pro164=) rs368407147 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_007078.3(LDB3):c.897-14T>C rs763081924 0.00014
NM_001368067.1(LDB3):c.393C>T (p.Ala131=) rs368832031 0.00013
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_007078.3(LDB3):c.342C>T (p.Asn114=) rs151166414 0.00013
NM_007078.3(LDB3):c.714C>T (p.Ala238=) rs727503125 0.00013
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn) rs1004651681 0.00011
NM_007078.3(LDB3):c.794G>A (p.Arg265His) rs45458895 0.00011
NM_007078.3(LDB3):c.897-16G>C rs45513100 0.00011
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_007078.3(LDB3):c.891G>A (p.Arg297=) rs374336814 0.00010
NM_001368067.1(LDB3):c.345C>T (p.Asn115=) rs562263201 0.00009
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.493C>T (p.Arg165Trp) rs45610637 0.00009
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn) rs557956141 0.00008
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.422C>T (p.Thr141Ile) rs141078955 0.00007
NM_001368067.1(LDB3):c.324G>A (p.Val108=) rs397516556 0.00006
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys) rs377201153 0.00006
NM_007078.3(LDB3):c.1231+19G>A rs763969244 0.00006
NM_007078.3(LDB3):c.1254G>A (p.Pro418=) rs145942370 0.00006
NM_007078.3(LDB3):c.1430A>G (p.Tyr477Cys) rs529178109 0.00006
NM_007078.3(LDB3):c.1521C>T (p.Thr507=) rs200838004 0.00006
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg) rs566463138 0.00006
NM_007078.3(LDB3):c.321+19G>A rs147246015 0.00006
NM_007078.3(LDB3):c.344G>A (p.Gly115Asp) rs767658173 0.00006
NM_007078.3(LDB3):c.533G>A (p.Arg178Gln) rs143311349 0.00006
NM_007078.3(LDB3):c.543C>T (p.Leu181=) rs148324530 0.00006
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131 0.00006
NM_007078.3(LDB3):c.689+9C>T rs727503124 0.00006
NM_007078.3(LDB3):c.690-4619G>T rs761090088 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.369C>T (p.Asn123=) rs751576160 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.1728C>T (p.Thr576=) rs749988944 0.00005
NM_007078.3(LDB3):c.1904T>G (p.Val635Gly) rs567014755 0.00005
NM_007078.3(LDB3):c.2073C>T (p.His691=) rs45486293 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.348C>T (p.Ala116=) rs397516557 0.00004
NM_001368067.1(LDB3):c.390G>A (p.Ser130=) rs568549202 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.1965C>G (p.Pro655=) rs181475408 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.306G>A (p.Val102=) rs201715521 0.00004
NM_007078.3(LDB3):c.318G>A (p.Gln106=) rs760617777 0.00004
NM_007078.3(LDB3):c.407C>T (p.Pro136Leu) rs772887402 0.00004
NM_007078.3(LDB3):c.435C>T (p.Ala145=) rs144798369 0.00004
NM_007078.3(LDB3):c.451G>A (p.Ala151Thr) rs780578350 0.00004
NM_007078.3(LDB3):c.498C>A (p.Ala166=) rs780856557 0.00004
NM_007078.3(LDB3):c.530C>T (p.Ala177Val) rs397517224 0.00004
NM_007078.3(LDB3):c.564C>T (p.Gly188=) rs753281302 0.00004
NM_007078.3(LDB3):c.689+15T>C rs375094467 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.867C>T (p.Asp289=) rs397517227 0.00004
NM_007078.3(LDB3):c.897-6692C>T rs1286351667 0.00004
NM_007078.3(LDB3):c.93+12C>T rs746751581 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_007078.3(LDB3):c.945G>A (p.Pro315=) rs778570461 0.00004
NM_001368067.1(LDB3):c.331A>G (p.Asn111Asp) rs376900496 0.00003
NM_001368067.1(LDB3):c.427C>T (p.Leu143=) rs763783961 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.1232-10G>A rs776418612 0.00003
NM_007078.3(LDB3):c.1386C>T (p.Thr462=) rs764330273 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.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007078.3(LDB3):c.1789T>A (p.Tyr597Asn) rs727503131 0.00003
NM_007078.3(LDB3):c.1902C>T (p.Phe634=) rs773904344 0.00003
NM_007078.3(LDB3):c.1962G>A (p.Glu654=) rs201063130 0.00003
NM_007078.3(LDB3):c.2050G>A (p.Glu684Lys) rs754552434 0.00003
NM_007078.3(LDB3):c.378G>A (p.Ala126=) rs149872184 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.561G>A (p.Pro187=) rs763643660 0.00003
NM_007078.3(LDB3):c.567G>A (p.Ser189=) rs778777214 0.00003
NM_007078.3(LDB3):c.675C>T (p.Val225=) rs749425278 0.00003
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr) rs759790522 0.00003
NM_007078.3(LDB3):c.897-10G>A rs77304928 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.900C>A (p.Thr300=) rs760071118 0.00003
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr) rs777489502 0.00003
NM_007078.3(LDB3):c.918G>A (p.Pro306=) rs371729742 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.432C>T (p.Gly144=) rs558590519 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001368067.1(LDB3):c.465C>T (p.Asn155=) rs200462775 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.1119C>T (p.Ala373=) rs773647394 0.00002
NM_007078.3(LDB3):c.1164C>T (p.Pro388=) rs780108812 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.1442C>G (p.Pro481Arg) rs12761754 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.1548G>A (p.Arg516=) rs376826874 0.00002
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr) rs1449865053 0.00002
NM_007078.3(LDB3):c.162C>T (p.Gly54=) rs757856121 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.1785C>T (p.Asn595=) rs757550916 0.00002
NM_007078.3(LDB3):c.1824G>A (p.Pro608=) rs748428531 0.00002
NM_007078.3(LDB3):c.1858-5C>A rs781763092 0.00002
NM_007078.3(LDB3):c.2074G>A (p.Asp692Asn) rs754529329 0.00002
NM_007078.3(LDB3):c.2124G>A (p.Pro708=) rs759812655 0.00002
NM_007078.3(LDB3):c.246-8T>A rs750671538 0.00002
NM_007078.3(LDB3):c.322-15C>T rs745496095 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.393C>A (p.Gly131=) rs779804488 0.00002
NM_007078.3(LDB3):c.468C>T (p.Ala156=) rs374233873 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.531C>T (p.Ala177=) rs776893998 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.669G>A (p.Ser223=) rs778089838 0.00002
NM_007078.3(LDB3):c.690-20G>A rs371706056 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.859+14C>G rs748281629 0.00002
NM_007078.3(LDB3):c.860-7C>T rs779264739 0.00002
NM_007078.3(LDB3):c.896+6694C>G rs747762937 0.00002
NM_007078.3(LDB3):c.897-6831C>T rs886047355 0.00002
NM_007078.3(LDB3):c.999G>A (p.Ser333=) rs1332348876 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.435C>G (p.Gly145=) rs367612170 0.00001
NM_001368067.1(LDB3):c.453T>C (p.His151=) rs768048953 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.798A>G (p.Lys266=) rs370682028 0.00001
NM_001368067.1(LDB3):c.803G>A (p.Arg268His) rs751981682 0.00001
NM_001368067.1(LDB3):c.816T>C (p.His272=) rs748780980 0.00001
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly) rs764530865 0.00001
NM_007078.3(LDB3):c.1017T>G (p.Ala339=) rs727504526 0.00001
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro) rs755329877 0.00001
NM_007078.3(LDB3):c.1042G>A (p.Ala348Thr) rs529277058 0.00001
NM_007078.3(LDB3):c.1086-12G>A rs772117977 0.00001
NM_007078.3(LDB3):c.1094C>T (p.Ala365Val) rs747011937 0.00001
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly) rs181700296 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.1200T>G (p.Thr400=) rs1447980981 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.1231+14C>G rs1846586366 0.00001
NM_007078.3(LDB3):c.1232-18T>A rs764158731 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.1332C>T (p.Ala444=) rs1441065258 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.1434C>T (p.Ser478=) rs1273006981 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.1562A>G (p.Tyr521Cys) rs535737552 0.00001
NM_007078.3(LDB3):c.158A>G (p.Asp53Gly) rs935307586 0.00001
NM_007078.3(LDB3):c.1605C>T (p.Thr535=) rs727505207 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.1677-11T>C rs779076719 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.1827G>A (p.Leu609=) rs1217545964 0.00001
NM_007078.3(LDB3):c.1851T>C (p.Ile617=) rs145402041 0.00001
NM_007078.3(LDB3):c.1857+15T>A rs1408850535 0.00001
NM_007078.3(LDB3):c.1869T>C (p.His623=) rs1846966684 0.00001
NM_007078.3(LDB3):c.1885T>C (p.Trp629Arg) rs773554501 0.00001
NM_007078.3(LDB3):c.1890C>T (p.His630=) rs748921017 0.00001
NM_007078.3(LDB3):c.1894A>G (p.Thr632Ala) rs770525232 0.00001
NM_007078.3(LDB3):c.1917C>T (p.Cys639=) rs1190390565 0.00001
NM_007078.3(LDB3):c.1947C>T (p.His649=) rs555375533 0.00001
NM_007078.3(LDB3):c.1978G>A (p.Asp660Asn) rs1442071380 0.00001
NM_007078.3(LDB3):c.2025C>T (p.Pro675=) rs876657490 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.2049C>T (p.Ile683=) rs377178682 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.2091C>T (p.Cys697=) rs571356142 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.2157G>A (p.Lys719=) rs758201230 0.00001
NM_007078.3(LDB3):c.2163C>T (p.His721=) rs556787635 0.00001
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr) rs727505129 0.00001
NM_007078.3(LDB3):c.21G>T (p.Leu7=) rs367818009 0.00001
NM_007078.3(LDB3):c.234C>A (p.Leu78=) rs947293580 0.00001
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile) rs397517221 0.00001
NM_007078.3(LDB3):c.246-4A>G rs370264195 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.303G>A (p.Pro101=) rs559350698 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.322-20C>T rs199536065 0.00001
NM_007078.3(LDB3):c.322-8T>C rs1346147675 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.348C>T (p.Ser116=) rs1060504200 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.396C>T (p.Thr132=) rs768251789 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.447C>T (p.Pro149=) rs1245240747 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.507G>A (p.Arg169=) rs1475637979 0.00001
NM_007078.3(LDB3):c.51G>A (p.Leu17=) rs752452361 0.00001
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly) rs794729058 0.00001
NM_007078.3(LDB3):c.540A>G (p.Leu180=) rs1283051092 0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_007078.3(LDB3):c.560C>T (p.Pro187Leu) rs149218167 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.645G>A (p.Gln215=) rs957930268 0.00001
NM_007078.3(LDB3):c.650G>A (p.Ser217Asn) rs1246502816 0.00001
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter) rs727503123 0.00001
NM_007078.3(LDB3):c.689+3902G>A rs1057521576 0.00001
NM_007078.3(LDB3):c.690-4616C>T rs757618215 0.00001
NM_007078.3(LDB3):c.690-4832C>T rs546887989 0.00001
NM_007078.3(LDB3):c.690-4841C>T rs777780639 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.778G>A (p.Ala260Thr) rs777637914 0.00001
NM_007078.3(LDB3):c.782A>C (p.Asp261Ala) rs1285921374 0.00001
NM_007078.3(LDB3):c.783C>T (p.Asp261=) rs45470296 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.816T>C (p.Ser272=) rs1012940823 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.831C>T (p.Ile277=) rs752273360 0.00001
NM_007078.3(LDB3):c.845C>T (p.Thr282Met) rs199811186 0.00001
NM_007078.3(LDB3):c.846G>A (p.Thr282=) rs1026972237 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.888A>G (p.Arg296=) rs776143895 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.897-1_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.93+18C>T rs1412849750 0.00001
NM_007078.3(LDB3):c.94-9T>C rs1282721488 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.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.382A>C (p.Lys128Gln) rs2132396809
NM_001368067.1(LDB3):c.389C>T (p.Ser130Leu)
NM_001368067.1(LDB3):c.394C>T (p.Leu132=)
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.414C>T (p.Ile138=) rs372423575
NM_001368067.1(LDB3):c.420G>C (p.Val140=)
NM_001368067.1(LDB3):c.426G>A (p.Gly142=) rs760615794
NM_001368067.1(LDB3):c.432C>A (p.Gly144=)
NM_001368067.1(LDB3):c.433G>C (p.Gly145Arg)
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368067.1(LDB3):c.440C>T (p.Ala147Val) rs281865143
NM_001368067.1(LDB3):c.452A>G (p.His151Arg)
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.468G>A (p.Thr156=) rs745413406
NM_001368067.1(LDB3):c.468G>T (p.Thr156=)
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.486C>T (p.Ser162=)
NM_001368067.1(LDB3):c.490G>A (p.Asp164Asn)
NM_001368067.1(LDB3):c.491A>G (p.Asp164Gly)
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001368067.1(LDB3):c.503A>T (p.Asp168Val)
NM_001368067.1(LDB3):c.507C>T (p.Ala169=) rs2132397471
NM_001368067.1(LDB3):c.510C>T (p.Ile170=)
NM_001368067.1(LDB3):c.511G>T (p.Ala171Ser) rs373632943
NM_001368067.1(LDB3):c.519G>A (p.Gln173=) rs537783577
NM_001368067.1(LDB3):c.772G>A (p.Glu258Lys) rs868365512
NM_001368067.1(LDB3):c.775C>T (p.Arg259Cys)
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.813C>T (p.His271=)
NM_001368067.1(LDB3):c.829C>A (p.Gln277Lys)
NM_001368067.1(LDB3):c.830A>C (p.Gln277Pro) rs1589656313
NM_001368067.1(LDB3):c.837T>C (p.Leu279=)
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_001368067.1(LDB3):c.849C>T (p.Ser283=) rs1846156972
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.1041C>A (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1041C>T (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1045_1050dup (p.Ser349_Thr350dup) rs1276121533
NM_007078.3(LDB3):c.1047C>T (p.Ser349=)
NM_007078.3(LDB3):c.1053A>T (p.Thr351=) rs2132458705
NM_007078.3(LDB3):c.1069C>T (p.Pro357Ser)
NM_007078.3(LDB3):c.1074C>A (p.Ala358=) rs45459491
NM_007078.3(LDB3):c.1074dup (p.Asp359fs)
NM_007078.3(LDB3):c.1085+11C>T rs1589663977
NM_007078.3(LDB3):c.1085+15G>C rs1346203787
NM_007078.3(LDB3):c.1086-12G>C
NM_007078.3(LDB3):c.1086-247_1231+2del rs1564653469
NM_007078.3(LDB3):c.1088C>G (p.Pro363Arg)
NM_007078.3(LDB3):c.108C>G (p.Ser36Arg) rs2132360019
NM_007078.3(LDB3):c.1092G>A (p.Gln364=) rs2132465919
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.1110C>T (p.Pro370=)
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.114A>C (p.Ala38=)
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.1167C>T (p.Ala389=) rs768844187
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.1187G>A (p.Arg396Gln)
NM_007078.3(LDB3):c.1206C>T (p.Ser402=)
NM_007078.3(LDB3):c.1211G>T (p.Arg404Leu)
NM_007078.3(LDB3):c.1219_1222del (p.Val407fs)
NM_007078.3(LDB3):c.1231+12A>G
NM_007078.3(LDB3):c.1231+14dup
NM_007078.3(LDB3):c.1231+16G>A
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+7G>A rs949994168
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.1232-12del rs752301693
NM_007078.3(LDB3):c.1232-12dup rs752301693
NM_007078.3(LDB3):c.1232-14T>G rs1486608602
NM_007078.3(LDB3):c.1232-19T>G
NM_007078.3(LDB3):c.1232-6_1232-5delinsGG
NM_007078.3(LDB3):c.1232-8T>G rs1256222888
NM_007078.3(LDB3):c.1234C>G (p.Pro412Ala)
NM_007078.3(LDB3):c.1234C>T (p.Pro412Ser)
NM_007078.3(LDB3):c.1236T>C (p.Pro412=) rs1846868091
NM_007078.3(LDB3):c.123C>T (p.Ser41=) rs147548646
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.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.12T>C (p.Ser4=)
NM_007078.3(LDB3):c.1302C>G (p.Ala434=) rs1291822613
NM_007078.3(LDB3):c.1310A>G (p.Tyr437Cys)
NM_007078.3(LDB3):c.1313C>G (p.Thr438Ser) rs767914340
NM_007078.3(LDB3):c.1314C>A (p.Thr438=)
NM_007078.3(LDB3):c.1317C>T (p.Pro439=) rs397517208
NM_007078.3(LDB3):c.1320C>A (p.Ser440=) rs753917548
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.1343del (p.Ser448fs)
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.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.1396G>A (p.Ala466Thr)
NM_007078.3(LDB3):c.1407T>C (p.Tyr469=)
NM_007078.3(LDB3):c.1407_1408dup (p.Asn470fs)
NM_007078.3(LDB3):c.1414G>C (p.Ala472Pro) rs546736974
NM_007078.3(LDB3):c.1419C>T (p.Pro473=)
NM_007078.3(LDB3):c.1426G>T (p.Ala476Ser) rs1222316982
NM_007078.3(LDB3):c.1439dup (p.Ala482fs) rs2132482311
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.144C>A (p.Leu48=) rs397517213
NM_007078.3(LDB3):c.144C>G (p.Leu48=) rs397517213
NM_007078.3(LDB3):c.144C>T (p.Leu48=) rs397517213
NM_007078.3(LDB3):c.1457dup (p.Ser486fs) rs1846883652
NM_007078.3(LDB3):c.1458C>T (p.Ser486=) rs2132482407
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.147G>C (p.Val49=) rs45591834
NM_007078.3(LDB3):c.147G>T (p.Val49=)
NM_007078.3(LDB3):c.1483A>G (p.Ser495Gly) rs2132482506
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.1515C>T (p.Ser505=)
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>T (p.Pro515Ser)
NM_007078.3(LDB3):c.1547G>T (p.Arg516Leu)
NM_007078.3(LDB3):c.1563C>T (p.Tyr521=) rs1846888210
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.1587A>G (p.Pro529=) rs2132482785
NM_007078.3(LDB3):c.1591C>G (p.Leu531Val) rs2132482794
NM_007078.3(LDB3):c.1599G>C (p.Arg533Ser) rs1846890284
NM_007078.3(LDB3):c.1601_1602dup (p.Thr535fs) rs1846890164
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.1605C>A (p.Thr535=) rs727505207
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala) rs727503128
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.160G>C (p.Gly54Arg) rs201786090
NM_007078.3(LDB3):c.1611G>A (p.Gln537=) rs2132482906
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.1653C>A (p.Cys551Ter) rs45581435
NM_007078.3(LDB3):c.1654G>T (p.Gly552Cys) rs771007816
NM_007078.3(LDB3):c.1671C>T (p.Val557=)
NM_007078.3(LDB3):c.1676+19C>T rs2132483146
NM_007078.3(LDB3):c.1676+7T>C
NM_007078.3(LDB3):c.1676G>T (p.Arg559Leu)
NM_007078.3(LDB3):c.1677-18C>T
NM_007078.3(LDB3):c.1677-20G>A rs995596521
NM_007078.3(LDB3):c.1677-9C>T rs2132485273
NM_007078.3(LDB3):c.1677G>A (p.Arg559=) rs1846936388
NM_007078.3(LDB3):c.1679G>T (p.Gly560Val)
NM_007078.3(LDB3):c.167A>G (p.Asn56Ser) rs751482077
NM_007078.3(LDB3):c.1689G>T (p.Leu563=)
NM_007078.3(LDB3):c.168C>T (p.Asn56=)
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.171A>G (p.Thr57=) rs754796151
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.1752G>T (p.Leu584=)
NM_007078.3(LDB3):c.175A>G (p.Thr59Ala)
NM_007078.3(LDB3):c.1760T>C (p.Val587Ala)
NM_007078.3(LDB3):c.1763G>A (p.Cys588Tyr) rs1449207508
NM_007078.3(LDB3):c.1772A>G (p.Glu591Gly)
NM_007078.3(LDB3):c.1773del (p.Glu592fs) rs776530913
NM_007078.3(LDB3):c.1777C>A (p.Gln593Lys) rs2132485566
NM_007078.3(LDB3):c.1779G>A (p.Gln593=) rs1291914478
NM_007078.3(LDB3):c.177C>A (p.Thr59=) rs1844990322
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.1791C>T (p.Tyr597=)
NM_007078.3(LDB3):c.1794T>C (p.Cys598=) rs2132485636
NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro) rs747523570
NM_007078.3(LDB3):c.1806T>A (p.Tyr602Ter) rs2132485699
NM_007078.3(LDB3):c.1812A>G (p.Gln604=) rs1846942056
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.183C>T (p.Thr61=)
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+12G>A
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.1872C>G (p.Ala624=) rs2132487109
NM_007078.3(LDB3):c.1888C>A (p.His630Asn) rs2132487146
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.1941C>G (p.Leu647=) rs2132487385
NM_007078.3(LDB3):c.1944C>T (p.Phe648=) rs2132487394
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.195C>A (p.Ala65=)
NM_007078.3(LDB3):c.1968C>A (p.Tyr656Ter) rs2132487443
NM_007078.3(LDB3):c.196C>T (p.Gln66Ter) rs1554849100
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.1978+9A>C rs1060504199
NM_007078.3(LDB3):c.1979-20C>T
NM_007078.3(LDB3):c.1979-7A>C
NM_007078.3(LDB3):c.1979-7A>G rs1452733136
NM_007078.3(LDB3):c.1985T>A (p.Ile662Asn) rs2132503371
NM_007078.3(LDB3):c.1990C>T (p.Leu664=)
NM_007078.3(LDB3):c.2008C>T (p.His670Tyr)
NM_007078.3(LDB3):c.2010T>C (p.His670=) rs759857527
NM_007078.3(LDB3):c.2027del (p.Val676fs) rs2132503498
NM_007078.3(LDB3):c.2031G>T (p.Glu677Asp)
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+18G>A
NM_007078.3(LDB3):c.2094+3A>G rs1847251626
NM_007078.3(LDB3):c.2094+4T>A
NM_007078.3(LDB3):c.2095-14G>T rs2132517810
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.2130C>T (p.Tyr710=) rs752415111
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.2145A>G (p.Arg715=) rs1589691797
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.226T>C (p.Leu76=)
NM_007078.3(LDB3):c.23C>A (p.Thr8Asn) rs1060501317
NM_007078.3(LDB3):c.242del (p.Gln81fs) rs1554849133
NM_007078.3(LDB3):c.245+20_245+24del
NM_007078.3(LDB3):c.245+7G>A rs2132360859
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.252G>A (p.Lys84=)
NM_007078.3(LDB3):c.256C>T (p.Pro86Ser)
NM_007078.3(LDB3):c.258C>T (p.Pro86=)
NM_007078.3(LDB3):c.269C>T (p.Ser90Phe)
NM_007078.3(LDB3):c.285A>C (p.Pro95=) rs2132363687
NM_007078.3(LDB3):c.287T>C (p.Val96Ala) rs794729056
NM_007078.3(LDB3):c.289dup (p.Gln97fs) rs2132363722
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.309C>A (p.Ile103=) rs1060504198
NM_007078.3(LDB3):c.30C>T (p.Pro10=) rs766817285
NM_007078.3(LDB3):c.319A>T (p.Lys107Ter) rs2132363967
NM_007078.3(LDB3):c.31G>T (p.Gly11Trp)
NM_007078.3(LDB3):c.321+16G>A rs1461402519
NM_007078.3(LDB3):c.321+18C>T
NM_007078.3(LDB3):c.321+19G>C
NM_007078.3(LDB3):c.321+1G>A
NM_007078.3(LDB3):c.321+9T>G
NM_007078.3(LDB3):c.322-14C>T
NM_007078.3(LDB3):c.322-5G>A
NM_007078.3(LDB3):c.322-6_322-5del
NM_007078.3(LDB3):c.323A>C (p.Asp108Ala)
NM_007078.3(LDB3):c.325C>T (p.Pro109Ser)
NM_007078.3(LDB3):c.327C>T (p.Pro109=)
NM_007078.3(LDB3):c.327del (p.Ala110fs)
NM_007078.3(LDB3):c.329C>T (p.Ala110Val) rs1204980784
NM_007078.3(LDB3):c.341A>G (p.Asn114Ser)
NM_007078.3(LDB3):c.359C>A (p.Pro120His) rs1365965245
NM_007078.3(LDB3):c.369C>T (p.Ser123=)
NM_007078.3(LDB3):c.377C>T (p.Ala126Val)
NM_007078.3(LDB3):c.378G>T (p.Ala126=) rs149872184
NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1]) rs750334087
NM_007078.3(LDB3):c.390AGGCACCCC[3] (p.131GTP[3]) rs750334087
NM_007078.3(LDB3):c.398_454dup (p.Ala151_Phe152insSerGlyThrProGluLeuArgProThrPheSerProAlaPheSerArgProSerAla)
NM_007078.3(LDB3):c.399A>T (p.Pro133=) rs769713715
NM_007078.3(LDB3):c.407C>G (p.Pro136Arg)
NM_007078.3(LDB3):c.408G>A (p.Pro136=) rs375626151
NM_007078.3(LDB3):c.418C>G (p.Pro140Ala)
NM_007078.3(LDB3):c.424T>C (p.Phe142Leu) rs2132371597
NM_007078.3(LDB3):c.444G>C (p.Arg148=) rs754596106
NM_007078.3(LDB3):c.445C>T (p.Pro149Ser)
NM_007078.3(LDB3):c.450C>T (p.Ser150=) rs878854907
NM_007078.3(LDB3):c.456CTC[1] (p.Ser154del)
NM_007078.3(LDB3):c.465C>A (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.466G>C (p.Ala156Pro) rs200596619
NM_007078.3(LDB3):c.468C>G (p.Ala156=)
NM_007078.3(LDB3):c.469G>A (p.Glu157Lys) rs770678454
NM_007078.3(LDB3):c.46C>T (p.Arg16Cys)
NM_007078.3(LDB3):c.470A>G (p.Glu157Gly)
NM_007078.3(LDB3):c.472G>T (p.Ala158Ser)
NM_007078.3(LDB3):c.473C>T (p.Ala158Val)
NM_007078.3(LDB3):c.485G>A (p.Gly162Asp)
NM_007078.3(LDB3):c.489T>A (p.Pro163=)
NM_007078.3(LDB3):c.492G>A (p.Pro164=) rs368407147
NM_007078.3(LDB3):c.493C>A (p.Arg165=) rs45610637
NM_007078.3(LDB3):c.494G>T (p.Arg165Leu) rs61857115
NM_007078.3(LDB3):c.495G>A (p.Arg165=)
NM_007078.3(LDB3):c.497C>A (p.Ala166Asp)
NM_007078.3(LDB3):c.4T>A (p.Ser2Thr) rs1564626023
NM_007078.3(LDB3):c.500G>A (p.Ser167Asn)
NM_007078.3(LDB3):c.508G>A (p.Ala170Thr)
NM_007078.3(LDB3):c.50T>C (p.Leu17Pro) rs2132320405
NM_007078.3(LDB3):c.523G>A (p.Glu175Lys)
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.528G>A (p.Gly176=) rs557479871
NM_007078.3(LDB3):c.528G>C (p.Gly176=)
NM_007078.3(LDB3):c.528G>T (p.Gly176=)
NM_007078.3(LDB3):c.529del (p.Ala177fs) rs730880345
NM_007078.3(LDB3):c.529dup (p.Ala177fs) rs730880345
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.565T>G (p.Ser189Ala)
NM_007078.3(LDB3):c.566C>A (p.Ser189Ter)
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>A (p.Gln191=)
NM_007078.3(LDB3):c.575C>G (p.Pro192Arg) rs758182278
NM_007078.3(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.576G>T (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.578G>A (p.Arg193Lys)
NM_007078.3(LDB3):c.584A>G (p.Tyr195Cys)
NM_007078.3(LDB3):c.58G>A (p.Gly20Ser)
NM_007078.3(LDB3):c.591C>T (p.Asn197=)
NM_007078.3(LDB3):c.59G>A (p.Gly20Asp) rs1844291597
NM_007078.3(LDB3):c.59dup (p.Lys21fs)
NM_007078.3(LDB3):c.603G>A (p.Leu201=)
NM_007078.3(LDB3):c.614A>C (p.Glu205Ala)
NM_007078.3(LDB3):c.616A>G (p.Thr206Ala)
NM_007078.3(LDB3):c.626A>T (p.Glu209Val) rs1845153117
NM_007078.3(LDB3):c.635A>T (p.Gln212Leu)
NM_007078.3(LDB3):c.662A>G (p.Lys221Arg)
NM_007078.3(LDB3):c.672T>C (p.Gly224=) rs2132373056
NM_007078.3(LDB3):c.675C>G (p.Val225=) rs749425278
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+11G>A
NM_007078.3(LDB3):c.689+12A>G
NM_007078.3(LDB3):c.689+3870C>T rs1028583921
NM_007078.3(LDB3):c.689+3904A>T rs776327220
NM_007078.3(LDB3):c.689+3916C>A
NM_007078.3(LDB3):c.689+8A>G rs2132373164
NM_007078.3(LDB3):c.690-12T>C rs754482860
NM_007078.3(LDB3):c.690-13C>G rs978286642
NM_007078.3(LDB3):c.690-17CT[3] rs544039308
NM_007078.3(LDB3):c.690-2A>G rs1060501315
NM_007078.3(LDB3):c.690-4606C>T
NM_007078.3(LDB3):c.690-4611C>T rs901009545
NM_007078.3(LDB3):c.690-4612C>T rs2132397872
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.690-4835T>A rs2132396498
NM_007078.3(LDB3):c.690-4837C>T rs528725791
NM_007078.3(LDB3):c.690-4842G>T rs113445294
NM_007078.3(LDB3):c.690-4843C>T
NM_007078.3(LDB3):c.690-9G>A
NM_007078.3(LDB3):c.701T>C (p.Ile234Thr)
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.72C>T (p.Asn24=)
NM_007078.3(LDB3):c.730C>G (p.Pro244Ala) rs1205511323
NM_007078.3(LDB3):c.732C>G (p.Pro244=)
NM_007078.3(LDB3):c.735C>T (p.Val245=) rs1329610577
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.785_818dup (p.Ser274fs)
NM_007078.3(LDB3):c.792A>G (p.Ala264=) rs1589644038
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.834G>A (p.Leu278=)
NM_007078.3(LDB3):c.836C>G (p.Ala279Gly) rs2132415804
NM_007078.3(LDB3):c.846G>T (p.Thr282=) rs1026972237
NM_007078.3(LDB3):c.859+15T>C
NM_007078.3(LDB3):c.859+20G>A
NM_007078.3(LDB3):c.859+9A>C
NM_007078.3(LDB3):c.859+9A>T
NM_007078.3(LDB3):c.860-15C>T rs727503126
NM_007078.3(LDB3):c.860-20C>G
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.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+6669TC[11] rs71019410
NM_007078.3(LDB3):c.896+6669TC[4]
NM_007078.3(LDB3):c.896+6695T>C rs1846150336
NM_007078.3(LDB3):c.896+6696C>G
NM_007078.3(LDB3):c.896+6701C>T
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.897-11C>T rs766463668
NM_007078.3(LDB3):c.897-17T>C
NM_007078.3(LDB3):c.897-4T>A rs2132458092
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.903T>G (p.Pro301=)
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.93+10C>A rs1222755412
NM_007078.3(LDB3):c.93+10C>T
NM_007078.3(LDB3):c.93+17A>G rs2132320735
NM_007078.3(LDB3):c.93+1G>T rs727505066
NM_007078.3(LDB3):c.93+7G>T rs397517229
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.94-14C>T
NM_007078.3(LDB3):c.94-17C>T
NM_007078.3(LDB3):c.94-20C>T rs779928559
NM_007078.3(LDB3):c.941C>T (p.Thr314Ile)
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.990T>C (p.Ser330=)
NM_007078.3(LDB3):c.998C>T (p.Ser333Leu) rs1458557837
NM_007078.3(LDB3):c.99dup (p.Pro34fs) rs1554849000

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