ClinVar Miner

List of variants in gene LARGE1 studied for muscular dystrophy-dystroglycanopathy type B6

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 810
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HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_133642.5(LARGE1):c.-63C>T rs16992986 0.09348
NM_133642.5(LARGE1):c.*921C>G rs16992034 0.07871
NM_133642.5(LARGE1):c.-397C>G rs114106875 0.07319
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_133642.5(LARGE1):c.*154C>A rs73399512 0.03456
NM_133642.5(LARGE1):c.*856G>A rs77663505 0.03428
NM_133642.5(LARGE1):c.*207G>A rs16992036 0.03294
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_133642.5(LARGE1):c.*740A>G rs116335813 0.02207
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_133642.5(LARGE1):c.*1201A>G rs11544101 0.00840
NM_133642.5(LARGE1):c.-83+63217G>C rs114574565 0.00831
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.*1235A>G rs1801820 0.00578
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_133642.5(LARGE1):c.-399A>T rs535216289 0.00327
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00220
NM_133642.5(LARGE1):c.-83+63202T>G rs147343461 0.00215
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_133642.5(LARGE1):c.-455G>A rs532736408 0.00134
NM_133642.5(LARGE1):c.*100C>A rs567278765 0.00131
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_133642.5(LARGE1):c.893-17C>G rs139572378 0.00102
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.-271G>A rs185068235 0.00093
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) rs146552975 0.00092
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=) rs116734942 0.00081
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_133642.5(LARGE1):c.-194G>A rs530725597 0.00059
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_133642.5(LARGE1):c.409-19C>T rs374692757 0.00041
NM_133642.5(LARGE1):c.*796C>T rs144150303 0.00035
NM_133642.5(LARGE1):c.*998A>G rs886057455 0.00033
NM_133642.5(LARGE1):c.*798G>A rs778063005 0.00029
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_133642.5(LARGE1):c.535G>A (p.Glu179Lys) rs370128137 0.00026
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp) rs142135345 0.00025
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_133642.5(LARGE1):c.*155C>T rs551266967 0.00023
NM_133642.5(LARGE1):c.492-11A>G rs142978441 0.00023
NM_133642.5(LARGE1):c.651T>A (p.Ser217=) rs143547253 0.00022
NM_133642.5(LARGE1):c.*699G>A rs760092745 0.00021
NM_133642.5(LARGE1):c.-343C>A rs886057467 0.00019
NM_133642.5(LARGE1):c.1675A>G (p.Met559Val) rs191368661 0.00019
NM_133642.5(LARGE1):c.*455C>T rs886057460 0.00018
NM_133642.5(LARGE1):c.2004G>A (p.Pro668=) rs368231947 0.00017
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_133642.5(LARGE1):c.-247T>G rs886057463 0.00016
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln) rs147620818 0.00014
NM_133642.5(LARGE1):c.1577G>A (p.Arg526His) rs536420427 0.00013
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_133642.5(LARGE1):c.*499G>A rs886057458 0.00011
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met) rs149646216 0.00011
NM_133642.5(LARGE1):c.1664G>A (p.Ser555Asn) rs773148038 0.00011
NM_133642.5(LARGE1):c.2073+11C>T rs774384587 0.00011
NM_133642.5(LARGE1):c.2256C>T (p.Ala752=) rs114246562 0.00011
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) rs138938225 0.00011
NM_133642.5(LARGE1):c.708G>A (p.Glu236=) rs202028671 0.00011
NM_133642.5(LARGE1):c.787+14del rs757463406 0.00011
NM_133642.5(LARGE1):c.*849C>T rs149508241 0.00010
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=) rs369773678 0.00010
NM_133642.5(LARGE1):c.2015G>A (p.Arg672Gln) rs145736519 0.00010
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys) rs146078928 0.00010
NM_133642.5(LARGE1):c.478G>A (p.Val160Ile) rs775539988 0.00010
NM_133642.5(LARGE1):c.796G>C (p.Val266Leu) rs145594612 0.00010
NM_133642.5(LARGE1):c.432C>T (p.Cys144=) rs201977889 0.00009
NM_133642.5(LARGE1):c.1131+12A>T rs377316838 0.00008
NM_133642.5(LARGE1):c.119T>C (p.Val40Ala) rs148383806 0.00007
NM_133642.5(LARGE1):c.1277A>C (p.Asn426Thr) rs369552267 0.00007
NM_133642.5(LARGE1):c.857G>A (p.Arg286His) rs200035534 0.00007
NM_133642.5(LARGE1):c.*186C>T rs780030367 0.00006
NM_133642.5(LARGE1):c.-242C>T rs886057462 0.00006
NM_133642.5(LARGE1):c.-277T>G rs886057464 0.00006
NM_133642.5(LARGE1):c.-287A>G rs886057465 0.00006
NM_133642.5(LARGE1):c.-83+63184A>C rs759992064 0.00006
NM_133642.5(LARGE1):c.1005+17G>A rs371887551 0.00006
NM_133642.5(LARGE1):c.118G>A (p.Val40Met) rs188675457 0.00006
NM_133642.5(LARGE1):c.131C>T (p.Pro44Leu) rs143437080 0.00006
NM_133642.5(LARGE1):c.1521C>A (p.Asp507Glu) rs1312649028 0.00006
NM_133642.5(LARGE1):c.1578C>T (p.Arg526=) rs200229228 0.00006
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=) rs113492643 0.00006
NM_133642.5(LARGE1):c.1928G>A (p.Arg643Gln) rs151199006 0.00006
NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly) rs200024875 0.00006
NM_133642.5(LARGE1):c.252C>T (p.Ser84=) rs56202589 0.00006
NM_133642.5(LARGE1):c.534G>C (p.Ala178=) rs772655607 0.00006
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu) rs149747266 0.00006
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) rs377353667 0.00006
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) rs115686643 0.00005
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr) rs776954687 0.00005
NM_133642.5(LARGE1):c.*566G>A rs878945156 0.00004
NM_133642.5(LARGE1):c.1116C>T (p.Asp372=) rs398124182 0.00004
NM_133642.5(LARGE1):c.1287+11C>T rs398124183 0.00004
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=) rs561439887 0.00004
NM_133642.5(LARGE1):c.1349G>A (p.Arg450His) rs371071263 0.00004
NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg) rs376160270 0.00004
NM_133642.5(LARGE1):c.1451+11C>T rs201322547 0.00004
NM_133642.5(LARGE1):c.1597A>G (p.Ile533Val) rs566107119 0.00004
NM_133642.5(LARGE1):c.1746G>A (p.Gln582=) rs114161191 0.00004
NM_133642.5(LARGE1):c.1941G>A (p.Thr647=) rs770327327 0.00004
NM_133642.5(LARGE1):c.201G>C (p.Val67=) rs135312 0.00004
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala) rs751789128 0.00004
NM_133642.5(LARGE1):c.2222G>A (p.Arg741His) rs747003834 0.00004
NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys) rs139853494 0.00004
NM_133642.5(LARGE1):c.259C>A (p.Gln87Lys) rs373853930 0.00004
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) rs763697782 0.00004
NM_133642.5(LARGE1):c.533C>T (p.Ala178Val) rs377460238 0.00004
NM_133642.5(LARGE1):c.703C>T (p.Leu235=) rs376057149 0.00004
NM_133642.5(LARGE1):c.81T>A (p.Ile27=) rs145861048 0.00004
NM_133642.5(LARGE1):c.923G>A (p.Arg308Gln) rs773959791 0.00004
NM_133642.5(LARGE1):c.*580C>T rs776235903 0.00003
NM_133642.5(LARGE1):c.*833A>G rs748248240 0.00003
NM_133642.5(LARGE1):c.*969G>A rs892305427 0.00003
NM_133642.5(LARGE1):c.-47C>T rs775356534 0.00003
NM_133642.5(LARGE1):c.1020C>T (p.Ala340=) rs927885509 0.00003
NM_133642.5(LARGE1):c.1098C>G (p.Ser366=) rs770224674 0.00003
NM_133642.5(LARGE1):c.1215G>A (p.Leu405=) rs368009890 0.00003
NM_133642.5(LARGE1):c.1623C>T (p.Tyr541=) rs370896246 0.00003
NM_133642.5(LARGE1):c.1626C>T (p.Pro542=) rs775137166 0.00003
NM_133642.5(LARGE1):c.1677G>A (p.Met559Ile) rs376455063 0.00003
NM_133642.5(LARGE1):c.1704C>T (p.Pro568=) rs768746727 0.00003
NM_133642.5(LARGE1):c.2136C>T (p.Phe712=) rs767177452 0.00003
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_133642.5(LARGE1):c.2226C>T (p.Tyr742=) rs777773303 0.00003
NM_133642.5(LARGE1):c.239G>T (p.Arg80Leu) rs761004017 0.00003
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln) rs142272515 0.00003
NM_133642.5(LARGE1):c.409-18G>A rs774311766 0.00003
NM_133642.5(LARGE1):c.417C>T (p.His139=) rs115575249 0.00003
NM_133642.5(LARGE1):c.491+11C>G rs781066281 0.00003
NM_133642.5(LARGE1):c.551C>T (p.Thr184Met) rs138676820 0.00003
NM_133642.5(LARGE1):c.607G>A (p.Glu203Lys) rs776803926 0.00003
NM_133642.5(LARGE1):c.63C>A (p.Ile21=) rs759218415 0.00003
NM_133642.5(LARGE1):c.957C>T (p.Thr319=) rs778094231 0.00003
NM_133642.5(LARGE1):c.107-8C>T rs1006989010 0.00002
NM_133642.5(LARGE1):c.1132-3C>G rs755662032 0.00002
NM_133642.5(LARGE1):c.1132-8C>T rs748964975 0.00002
NM_133642.5(LARGE1):c.1241G>A (p.Arg414Gln) rs200603479 0.00002
NM_133642.5(LARGE1):c.1287+12G>A rs370541163 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.1340G>A (p.Arg447Gln) rs139603473 0.00002
NM_133642.5(LARGE1):c.1544G>A (p.Arg515His) rs368030516 0.00002
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=) rs751341620 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_133642.5(LARGE1):c.1839G>T (p.Leu613Phe) rs745392097 0.00002
NM_133642.5(LARGE1):c.1885G>A (p.Val629Ile) rs547202997 0.00002
NM_133642.5(LARGE1):c.1965C>T (p.Ala655=) rs368632863 0.00002
NM_133642.5(LARGE1):c.2070G>A (p.Val690=) rs771631103 0.00002
NM_133642.5(LARGE1):c.2169C>T (p.Tyr723=) rs1000835027 0.00002
NM_133642.5(LARGE1):c.2264A>G (p.Asn755Ser) rs755283207 0.00002
NM_133642.5(LARGE1):c.408+7G>A rs371246157 0.00002
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val) rs199906790 0.00002
NM_133642.5(LARGE1):c.45G>A (p.Ser15=) rs752560976 0.00002
NM_133642.5(LARGE1):c.492-8C>T rs764180554 0.00002
NM_133642.5(LARGE1):c.590A>C (p.Asp197Ala) rs765069383 0.00002
NM_133642.5(LARGE1):c.606C>T (p.Asp202=) rs759394642 0.00002
NM_133642.5(LARGE1):c.615+8C>T rs587783731 0.00002
NM_133642.5(LARGE1):c.*1229G>A rs918504034 0.00001
NM_133642.5(LARGE1):c.-359C>G rs886057468 0.00001
NM_133642.5(LARGE1):c.1005+12G>T rs1030394513 0.00001
NM_133642.5(LARGE1):c.1005+15T>G rs1414312676 0.00001
NM_133642.5(LARGE1):c.1006-14C>T rs1197844730 0.00001
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=) rs369877399 0.00001
NM_133642.5(LARGE1):c.106+6A>C rs746650831 0.00001
NM_133642.5(LARGE1):c.1080G>A (p.Leu360=) rs774412531 0.00001
NM_133642.5(LARGE1):c.117C>T (p.Pro39=) rs140622529 0.00001
NM_133642.5(LARGE1):c.1182G>C (p.Val394=) rs751250015 0.00001
NM_133642.5(LARGE1):c.1229A>G (p.Asn410Ser) rs199912424 0.00001
NM_133642.5(LARGE1):c.1234C>T (p.Leu412=) rs748508322 0.00001
NM_133642.5(LARGE1):c.1287+13C>T rs759768595 0.00001
NM_133642.5(LARGE1):c.1288-8C>T rs768000708 0.00001
NM_133642.5(LARGE1):c.1299G>T (p.Gln433His) rs1463323644 0.00001
NM_133642.5(LARGE1):c.1331A>G (p.Tyr444Cys) rs748074253 0.00001
NM_133642.5(LARGE1):c.1390G>A (p.Glu464Lys) rs772985451 0.00001
NM_133642.5(LARGE1):c.1415C>T (p.Thr472Met) rs779725828 0.00001
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=) rs755991003 0.00001
NM_133642.5(LARGE1):c.1432G>A (p.Ala478Thr) rs778360056 0.00001
NM_133642.5(LARGE1):c.1451+12G>A rs1029660389 0.00001
NM_133642.5(LARGE1):c.1462C>T (p.Leu488=) rs759041475 0.00001
NM_133642.5(LARGE1):c.1501C>G (p.Leu501Val) rs966974831 0.00001
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys) rs121908675 0.00001
NM_133642.5(LARGE1):c.1557C>T (p.Gly519=) rs763782820 0.00001
NM_133642.5(LARGE1):c.1585G>A (p.Val529Met) rs146923365 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_133642.5(LARGE1):c.1614C>T (p.Gly538=) rs749791648 0.00001
NM_133642.5(LARGE1):c.164C>T (p.Thr55Met) rs766363552 0.00001
NM_133642.5(LARGE1):c.1654A>G (p.Lys552Glu) rs764803042 0.00001
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly) rs760507626 0.00001
NM_133642.5(LARGE1):c.1702C>G (p.Pro568Ala) rs1934563241 0.00001
NM_133642.5(LARGE1):c.1706T>C (p.Met569Thr) rs561951366 0.00001
NM_133642.5(LARGE1):c.173G>A (p.Ser58Asn) rs774240856 0.00001
NM_133642.5(LARGE1):c.1799T>C (p.Leu600Pro) rs1930821948 0.00001
NM_133642.5(LARGE1):c.1833G>A (p.Ala611=) rs775318098 0.00001
NM_133642.5(LARGE1):c.1878-12C>T rs535915450 0.00001
NM_133642.5(LARGE1):c.1893G>A (p.Thr631=) rs138011042 0.00001
NM_133642.5(LARGE1):c.1902C>T (p.His634=) rs754149838 0.00001
NM_133642.5(LARGE1):c.1932C>T (p.Thr644=) rs764884886 0.00001
NM_133642.5(LARGE1):c.1933G>A (p.Ala645Thr) rs759095312 0.00001
NM_133642.5(LARGE1):c.206T>C (p.Met69Thr) rs1602977812 0.00001
NM_133642.5(LARGE1):c.2074-6T>C rs775368005 0.00001
NM_133642.5(LARGE1):c.2087T>C (p.Ile696Thr) rs200212868 0.00001
NM_133642.5(LARGE1):c.219G>A (p.Glu73=) rs2080766768 0.00001
NM_133642.5(LARGE1):c.222G>T (p.Glu74Asp) rs373261094 0.00001
NM_133642.5(LARGE1):c.2234C>A (p.Ala745Asp) rs1254409268 0.00001
NM_133642.5(LARGE1):c.2243A>G (p.Lys748Arg) rs1185896635 0.00001
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr) rs752854659 0.00001
NM_133642.5(LARGE1):c.230G>A (p.Arg77His) rs1402888044 0.00001
NM_133642.5(LARGE1):c.245A>G (p.Gln82Arg) rs774035009 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.265C>G (p.Arg89Gly) rs1359437833 0.00001
NM_133642.5(LARGE1):c.276C>T (p.Ser92=) rs759755959 0.00001
NM_133642.5(LARGE1):c.284G>A (p.Arg95Gln) rs773482355 0.00001
NM_133642.5(LARGE1):c.298A>G (p.Lys100Glu) rs985654114 0.00001
NM_133642.5(LARGE1):c.321C>A (p.Gly107=) rs776598184 0.00001
NM_133642.5(LARGE1):c.333C>T (p.Ser111=) rs746767821 0.00001
NM_133642.5(LARGE1):c.34T>C (p.Leu12=) rs1320102818 0.00001
NM_133642.5(LARGE1):c.393C>G (p.Val131=) rs776024597 0.00001
NM_133642.5(LARGE1):c.418G>A (p.Val140Ile) rs780394465 0.00001
NM_133642.5(LARGE1):c.442A>C (p.Asn148His) rs753419341 0.00001
NM_133642.5(LARGE1):c.459C>T (p.Val153=) rs199822331 0.00001
NM_133642.5(LARGE1):c.477C>T (p.Ser159=) rs150283131 0.00001
NM_133642.5(LARGE1):c.492-10C>T rs1452229191 0.00001
NM_133642.5(LARGE1):c.492-3C>T rs1222657512 0.00001
NM_133642.5(LARGE1):c.492-6C>G rs762612242 0.00001
NM_133642.5(LARGE1):c.494G>A (p.Arg165Gln) rs1343483735 0.00001
NM_133642.5(LARGE1):c.506A>G (p.His169Arg) rs886057461 0.00001
NM_133642.5(LARGE1):c.510C>G (p.Phe170Leu) rs770995323 0.00001
NM_133642.5(LARGE1):c.546G>A (p.Leu182=) rs755661957 0.00001
NM_133642.5(LARGE1):c.577G>A (p.Ala193Thr) rs1349882228 0.00001
NM_133642.5(LARGE1):c.583C>T (p.Arg195Cys) rs758364338 0.00001
NM_133642.5(LARGE1):c.597C>T (p.Tyr199=) rs996648375 0.00001
NM_133642.5(LARGE1):c.664C>T (p.Leu222=) rs148889570 0.00001
NM_133642.5(LARGE1):c.717C>T (p.Ile239=) rs761927446 0.00001
NM_133642.5(LARGE1):c.729G>A (p.Thr243=) rs1176140640 0.00001
NM_133642.5(LARGE1):c.74C>T (p.Thr25Ile) rs773210756 0.00001
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val) rs764632554 0.00001
NM_133642.5(LARGE1):c.787+14A>T rs776201139 0.00001
NM_133642.5(LARGE1):c.79A>G (p.Ile27Val) rs772137666 0.00001
NM_133642.5(LARGE1):c.822T>C (p.Ser274=) rs1443538111 0.00001
NM_133642.5(LARGE1):c.893-9G>A rs758531510 0.00001
NM_133642.5(LARGE1):c.8G>C (p.Gly3Ala) rs780682266 0.00001
NM_133642.5(LARGE1):c.904T>C (p.Leu302=) rs755445182 0.00001
NM_133642.5(LARGE1):c.942G>A (p.Gln314=) rs776701293 0.00001
NM_133642.5(LARGE1):c.958G>A (p.Ala320Thr) rs374774937 0.00001
GRCh37/hg19 22q12.3(chr22:34152899-34236578)
NC_000022.10:g.(33756233_33756918)_(33759931_33760459)delins42.9KB
NC_000022.10:g.(?_33559508)_(33673261_?)del
NC_000022.10:g.(?_33670403)_(33679344_?)del
NC_000022.10:g.(?_33670403)_(33828261_?)dup
NC_000022.10:g.(?_33670413)_(33828271_?)del
NC_000022.10:g.(?_33670413)_(34046674_?)del
NC_000022.10:g.(?_33700195)_(33712254_?)del
NC_000022.10:g.(?_33700195)_(33780310_?)del
NC_000022.10:g.(?_33712051)_(33733807_?)del
NC_000022.10:g.(?_33733612)_(33828271_?)del
NC_000022.10:g.(?_33733612)_(34157463_?)del
NC_000022.10:g.(?_33777885)_(33780310_?)del
NC_000022.10:g.(?_33777885)_(33828271_?)del
NC_000022.10:g.(?_33777885)_(34157463_?)del
NC_000022.10:g.(?_33828127)_(33961025_?)del
NC_000022.10:g.(?_33828127)_(33961025_?)dup
NC_000022.10:g.(?_33828137)_(34157473_?)del
NC_000022.10:g.(?_33960814)_(33961025_?)del
NC_000022.10:g.(?_33960814)_(34000564_?)del
NC_000022.10:g.(?_33960814)_(34157463_?)del
NC_000022.10:g.(?_33960824)_(34022320_?)del
NC_000022.10:g.(?_33960824)_(34046664_?)del
NC_000022.10:g.(?_33984774)_(34022277_?)del
NC_000022.10:g.(?_34000401)_(34000564_?)del
NC_000022.10:g.(?_34000401)_(34046674_?)del
NC_000022.10:g.(?_34000401)_(34157463_?)del
NC_000022.10:g.(?_34022208)_(34022330_?)del
NC_000022.10:g.(?_34022208)_(34157483_?)del
NC_000022.10:g.(?_34022218)_(34157473_?)del
NC_000022.10:g.(?_34046333)_(34046674_?)del
NC_000022.10:g.(?_34157338)_(34157463_?)del
NC_000022.10:g.(?_34157338)_(34157463_?)dup
NC_000022.11:g.(?_33761351)_(33761496_?)del
NC_000022.11:g.(?_33761361)_(33761486_?)del
NM_133642.5(LARGE1):c.*479A>T rs886057459
NM_133642.5(LARGE1):c.*501T>C rs886057457
NM_133642.5(LARGE1):c.*639T>G rs373361875
NM_133642.5(LARGE1):c.*995T>C rs1928531659
NM_133642.5(LARGE1):c.-202C>A rs946350081
NM_133642.5(LARGE1):c.-292G>C rs886057466
NM_133642.5(LARGE1):c.-377C>G rs1218154642
NM_133642.5(LARGE1):c.1002C>A (p.Asp334Glu) rs2147134497
NM_133642.5(LARGE1):c.1005+11A>G
NM_133642.5(LARGE1):c.1005+13G>T
NM_133642.5(LARGE1):c.1005+17G>T
NM_133642.5(LARGE1):c.1005+3G>A
NM_133642.5(LARGE1):c.1005+5G>A rs1204892970
NM_133642.5(LARGE1):c.1005+9C>G
NM_133642.5(LARGE1):c.1006-11del
NM_133642.5(LARGE1):c.1006-20C>T
NM_133642.5(LARGE1):c.1006-4C>T
NM_133642.5(LARGE1):c.1006-5C>T rs977498462
NM_133642.5(LARGE1):c.1006-6C>T
NM_133642.5(LARGE1):c.1006-7C>A
NM_133642.5(LARGE1):c.1014C>T (p.Phe338=) rs758924905
NM_133642.5(LARGE1):c.1016A>G (p.Asn339Ser)
NM_133642.5(LARGE1):c.1019C>T (p.Ala340Val)
NM_133642.5(LARGE1):c.1021G>A (p.Val341Ile)
NM_133642.5(LARGE1):c.1029A>G (p.Lys343=)
NM_133642.5(LARGE1):c.102C>T (p.Phe34=)
NM_133642.5(LARGE1):c.1030C>T (p.Gln344Ter)
NM_133642.5(LARGE1):c.1047G>A (p.Val349=)
NM_133642.5(LARGE1):c.1050C>T (p.Tyr350=)
NM_133642.5(LARGE1):c.106+10G>A
NM_133642.5(LARGE1):c.106+1218_106+5708del
NM_133642.5(LARGE1):c.106+14C>T
NM_133642.5(LARGE1):c.106+3A>T
NM_133642.5(LARGE1):c.106+7A>G
NM_133642.5(LARGE1):c.107-11T>C
NM_133642.5(LARGE1):c.107-19C>G
NM_133642.5(LARGE1):c.107-6C>T
NM_133642.5(LARGE1):c.107-7T>C
NM_133642.5(LARGE1):c.107-9G>A
NM_133642.5(LARGE1):c.1093C>T (p.Arg365Cys) rs1361308052
NM_133642.5(LARGE1):c.1095C>A (p.Arg365=) rs775639749
NM_133642.5(LARGE1):c.1095C>T (p.Arg365=)
NM_133642.5(LARGE1):c.1098C>T (p.Ser366=)
NM_133642.5(LARGE1):c.1110C>T (p.Tyr370=)
NM_133642.5(LARGE1):c.1113A>G (p.Arg371=)
NM_133642.5(LARGE1):c.1119G>C (p.Val373=)
NM_133642.5(LARGE1):c.1126C>T (p.Leu376=)
NM_133642.5(LARGE1):c.1131+10A>T
NM_133642.5(LARGE1):c.1131+11C>T
NM_133642.5(LARGE1):c.1131+12_1131+13insAACAGAGGGACATCCCTGGAGGTAGGGTG rs2147112788
NM_133642.5(LARGE1):c.1131+15G>C
NM_133642.5(LARGE1):c.1131+16G>T
NM_133642.5(LARGE1):c.1131+17G>A
NM_133642.5(LARGE1):c.1131+4G>A
NM_133642.5(LARGE1):c.1132-10T>C
NM_133642.5(LARGE1):c.1132-11C>G
NM_133642.5(LARGE1):c.1132-16del
NM_133642.5(LARGE1):c.1132-2A>G
NM_133642.5(LARGE1):c.1132-4C>A
NM_133642.5(LARGE1):c.1132-4C>T
NM_133642.5(LARGE1):c.1132-5G>T
NM_133642.5(LARGE1):c.1138C>G (p.His380Asp) rs1938648531
NM_133642.5(LARGE1):c.1140C>T (p.His380=)
NM_133642.5(LARGE1):c.115C>T (p.Pro39Ser)
NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp) rs767127452
NM_133642.5(LARGE1):c.1170G>A (p.Lys390=)
NM_133642.5(LARGE1):c.1176G>A (p.Lys392=)
NM_133642.5(LARGE1):c.1185G>A (p.Glu395=) rs1431706655
NM_133642.5(LARGE1):c.118G>C (p.Val40Leu) rs188675457
NM_133642.5(LARGE1):c.118G>T (p.Val40Leu) rs188675457
NM_133642.5(LARGE1):c.1192C>T (p.Arg398Cys) rs1376994263
NM_133642.5(LARGE1):c.1196A>C (p.Asn399Thr)
NM_133642.5(LARGE1):c.1200C>G (p.Leu400=)
NM_133642.5(LARGE1):c.1201_1202delinsCT (p.Tyr401Leu) rs1938639225
NM_133642.5(LARGE1):c.1206G>A (p.Leu402=) rs982770696
NM_133642.5(LARGE1):c.1209del (p.Phe404fs) rs1938637889
NM_133642.5(LARGE1):c.120G>A (p.Val40=)
NM_133642.5(LARGE1):c.1224C>T (p.Asp408=)
NM_133642.5(LARGE1):c.1225G>A (p.Gly409Ser) rs1555898776
NM_133642.5(LARGE1):c.122C>T (p.Ser41Phe)
NM_133642.5(LARGE1):c.123T>A (p.Ser41=)
NM_133642.5(LARGE1):c.123T>C (p.Ser41=)
NM_133642.5(LARGE1):c.1242G>A (p.Arg414=)
NM_133642.5(LARGE1):c.124C>T (p.Leu42=)
NM_133642.5(LARGE1):c.1250T>G (p.Phe417Cys)
NM_133642.5(LARGE1):c.1254C>T (p.Gly418=)
NM_133642.5(LARGE1):c.1257C>T (p.Cys419=)
NM_133642.5(LARGE1):c.1261A>G (p.Ser421Gly) rs905900345
NM_133642.5(LARGE1):c.1272T>A (p.Asp424Glu)
NM_133642.5(LARGE1):c.1272T>C (p.Asp424=)
NM_133642.5(LARGE1):c.1279A>G (p.Ser427Gly) rs1938625368
NM_133642.5(LARGE1):c.1287+12G>T rs370541163
NM_133642.5(LARGE1):c.1287+15_1287+16insGGCTCGCAAAA
NM_133642.5(LARGE1):c.1287+17G>T
NM_133642.5(LARGE1):c.1287+19T>C
NM_133642.5(LARGE1):c.1287+1G>A
NM_133642.5(LARGE1):c.1287+1G>C
NM_133642.5(LARGE1):c.1287+2dup rs2146570024
NM_133642.5(LARGE1):c.1288-10T>C
NM_133642.5(LARGE1):c.1288-12C>G
NM_133642.5(LARGE1):c.1288-18C>G rs750499971
NM_133642.5(LARGE1):c.1288-18C>T
NM_133642.5(LARGE1):c.1288-19C>A rs1263961982
NM_133642.5(LARGE1):c.1288-6C>G
NM_133642.5(LARGE1):c.1288-6C>T
NM_133642.5(LARGE1):c.1288-7C>G
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val) rs775051738
NM_133642.5(LARGE1):c.129A>G (p.Ser43=)
NM_133642.5(LARGE1):c.1308G>C (p.Glu436Asp)
NM_133642.5(LARGE1):c.1321G>A (p.Asp441Asn) rs915849571
NM_133642.5(LARGE1):c.132G>A (p.Pro44=)
NM_133642.5(LARGE1):c.132G>C (p.Pro44=)
NM_133642.5(LARGE1):c.132G>T (p.Pro44=)
NM_133642.5(LARGE1):c.1339C>T (p.Arg447Trp)
NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln) rs1064796524
NM_133642.5(LARGE1):c.1348C>T (p.Arg450Cys) rs754744384
NM_133642.5(LARGE1):c.1357G>A (p.Val453Ile)
NM_133642.5(LARGE1):c.1371C>T (p.His457=)
NM_133642.5(LARGE1):c.1372C>T (p.Leu458=)
NM_133642.5(LARGE1):c.1374G>A (p.Leu458=)
NM_133642.5(LARGE1):c.1380C>T (p.Phe460=) rs764722483
NM_133642.5(LARGE1):c.1381C>T (p.Leu461=) rs2146303992
NM_133642.5(LARGE1):c.1383G>A (p.Leu461=)
NM_133642.5(LARGE1):c.1385A>G (p.His462Arg) rs775726150
NM_133642.5(LARGE1):c.1390G>T (p.Glu464Ter)
NM_133642.5(LARGE1):c.1392G>A (p.Glu464=)
NM_133642.5(LARGE1):c.1396G>A (p.Glu466Lys) rs774223611
NM_133642.5(LARGE1):c.140C>T (p.Ser47Phe) rs1427588155
NM_133642.5(LARGE1):c.1411A>G (p.Ser471Gly) rs1936127827
NM_133642.5(LARGE1):c.1419C>T (p.Asp473=)
NM_133642.5(LARGE1):c.1420G>T (p.Val474Phe) rs150861748
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) rs369168322
NM_133642.5(LARGE1):c.1428G>A (p.Leu476=)
NM_133642.5(LARGE1):c.1431C>G (p.Val477=) rs987466965
NM_133642.5(LARGE1):c.1433C>T (p.Ala478Val)
NM_133642.5(LARGE1):c.1434T>G (p.Ala478=) rs2146303266
NM_133642.5(LARGE1):c.1440G>A (p.Leu480=)
NM_133642.5(LARGE1):c.1451+12G>C
NM_133642.5(LARGE1):c.1451+13G>A
NM_133642.5(LARGE1):c.1451+9G>C
NM_133642.5(LARGE1):c.1452-13C>T
NM_133642.5(LARGE1):c.1452-13dup
NM_133642.5(LARGE1):c.1452-19C>T
NM_133642.5(LARGE1):c.1452-9C>A
NM_133642.5(LARGE1):c.1457A>G (p.Gln486Arg) rs925299001
NM_133642.5(LARGE1):c.1464G>A (p.Leu488=) rs1361522471
NM_133642.5(LARGE1):c.1473C>A (p.Ile491=) rs1602325498
NM_133642.5(LARGE1):c.1487A>G (p.Glu496Gly)
NM_133642.5(LARGE1):c.1488G>A (p.Glu496=)
NM_133642.5(LARGE1):c.1497C>G (p.Ile499Met)
NM_133642.5(LARGE1):c.1497C>T (p.Ile499=)
NM_133642.5(LARGE1):c.1501C>T (p.Leu501=)
NM_133642.5(LARGE1):c.1503G>C (p.Leu501=)
NM_133642.5(LARGE1):c.1503G>T (p.Leu501=) rs1323217190
NM_133642.5(LARGE1):c.1512C>T (p.Tyr504=) rs1602325222
NM_133642.5(LARGE1):c.1521C>T (p.Asp507=) rs1312649028
NM_133642.5(LARGE1):c.1524C>T (p.Ala508=) rs747233486
NM_133642.5(LARGE1):c.152G>A (p.Ser51Asn) rs758152995
NM_133642.5(LARGE1):c.1536G>A (p.Gln512=)
NM_133642.5(LARGE1):c.1538dup (p.Leu514fs)
NM_133642.5(LARGE1):c.1539C>T (p.Phe513=)
NM_133642.5(LARGE1):c.153C>T (p.Ser51=)
NM_133642.5(LARGE1):c.1545C>G (p.Arg515=)
NM_133642.5(LARGE1):c.1549G>A (p.Ala517Thr)
NM_133642.5(LARGE1):c.1551A>G (p.Ala517=) rs2146165347
NM_133642.5(LARGE1):c.1554G>A (p.Gln518=)
NM_133642.5(LARGE1):c.1566G>A (p.Val522=)
NM_133642.5(LARGE1):c.156dup (p.Arg53fs)
NM_133642.5(LARGE1):c.1570A>T (p.Met524Leu) rs2146165030
NM_133642.5(LARGE1):c.1586T>C (p.Val529Ala) rs2146164640
NM_133642.5(LARGE1):c.1593C>T (p.Tyr531=) rs1001705325
NM_133642.5(LARGE1):c.159G>A (p.Arg53=) rs778498257
NM_133642.5(LARGE1):c.15C>T (p.Cys5=)
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) rs1428533575
NM_133642.5(LARGE1):c.1601T>C (p.Val534Ala)
NM_133642.5(LARGE1):c.1602G>A (p.Val534=)
NM_133642.5(LARGE1):c.1616_1620delinsG (p.Gln539fs)
NM_133642.5(LARGE1):c.1617G>A (p.Gln539=) rs2146164178
NM_133642.5(LARGE1):c.1626C>G (p.Pro542=)
NM_133642.5(LARGE1):c.1636C>T (p.Leu546=)
NM_133642.5(LARGE1):c.1638G>A (p.Leu546=)
NM_133642.5(LARGE1):c.1640G>A (p.Arg547His) rs1232298989
NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys)
NM_133642.5(LARGE1):c.1656G>A (p.Lys552=) rs138573955
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn) rs138573955
NM_133642.5(LARGE1):c.1659C>T (p.His553=)
NM_133642.5(LARGE1):c.1671del (p.Tyr558fs)
NM_133642.5(LARGE1):c.1676T>A (p.Met559Lys) rs2146163535
NM_133642.5(LARGE1):c.1683G>A (p.Leu561=) rs2146163430
NM_133642.5(LARGE1):c.1685C>T (p.Ser562Phe) rs2146163397
NM_133642.5(LARGE1):c.1699del (p.Leu567fs) rs1934564024
NM_133642.5(LARGE1):c.16A>C (p.Arg6=) rs886038552
NM_133642.5(LARGE1):c.171del (p.Ser58fs)
NM_133642.5(LARGE1):c.1728C>T (p.Leu576=)
NM_133642.5(LARGE1):c.1730+13A>G
NM_133642.5(LARGE1):c.1730+16G>A
NM_133642.5(LARGE1):c.1730+1G>A rs898695674
NM_133642.5(LARGE1):c.1730+7A>G
NM_133642.5(LARGE1):c.1730+8C>T rs201267374
NM_133642.5(LARGE1):c.1731-10C>A
NM_133642.5(LARGE1):c.1731-11C>A
NM_133642.5(LARGE1):c.1731-17C>T
NM_133642.5(LARGE1):c.1731-18C>T
NM_133642.5(LARGE1):c.1731-8_1731-7del
NM_133642.5(LARGE1):c.1731-9T>C
NM_133642.5(LARGE1):c.1743C>G (p.Ile581Met) rs747357315
NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)
NM_133642.5(LARGE1):c.1759A>G (p.Asn587Asp) rs749685972
NM_133642.5(LARGE1):c.1761C>T (p.Asn587=)
NM_133642.5(LARGE1):c.1765A>G (p.Lys589Glu) rs1602229899
NM_133642.5(LARGE1):c.176A>T (p.Gln59Leu) rs2080769500
NM_133642.5(LARGE1):c.1770A>G (p.Lys590=)
NM_133642.5(LARGE1):c.1772C>T (p.Ala591Val)
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.1788G>T (p.Ala596=) rs74550830
NM_133642.5(LARGE1):c.1802G>A (p.Arg601His) rs771376144
NM_133642.5(LARGE1):c.1808G>A (p.Arg603Gln)
NM_133642.5(LARGE1):c.1811del (p.Leu604fs) rs2145893296
NM_133642.5(LARGE1):c.1812G>A (p.Leu604=)
NM_133642.5(LARGE1):c.1818C>T (p.Phe606=)
NM_133642.5(LARGE1):c.1821C>G (p.Pro607=)
NM_133642.5(LARGE1):c.183G>A (p.Glu61=) rs2149183104
NM_133642.5(LARGE1):c.1842G>A (p.Leu614=)
NM_133642.5(LARGE1):c.1846A>T (p.Met616Leu) rs781142917
NM_133642.5(LARGE1):c.1849C>A (p.Leu617Met)
NM_133642.5(LARGE1):c.184_187del (p.Glu63fs)
NM_133642.5(LARGE1):c.1851G>A (p.Leu617=)
NM_133642.5(LARGE1):c.185G>A (p.Arg62His)
NM_133642.5(LARGE1):c.185G>T (p.Arg62Leu) rs777156706
NM_133642.5(LARGE1):c.1862C>T (p.Thr621Ile) rs1930806932
NM_133642.5(LARGE1):c.1863C>A (p.Thr621=) rs1602229376
NM_133642.5(LARGE1):c.1864C>G (p.Leu622Val)
NM_133642.5(LARGE1):c.1869C>T (p.Phe623=)
NM_133642.5(LARGE1):c.186C>G (p.Arg62=) rs535793068
NM_133642.5(LARGE1):c.186C>T (p.Arg62=)
NM_133642.5(LARGE1):c.1877+11C>G
NM_133642.5(LARGE1):c.1877+12T>C
NM_133642.5(LARGE1):c.1877+13A>G
NM_133642.5(LARGE1):c.1877+16T>C
NM_133642.5(LARGE1):c.1877+17G>A
NM_133642.5(LARGE1):c.1877+17G>C
NM_133642.5(LARGE1):c.1877+20G>A
NM_133642.5(LARGE1):c.1877+8del
NM_133642.5(LARGE1):c.1878-11G>A
NM_133642.5(LARGE1):c.1878-11GT[2]
NM_133642.5(LARGE1):c.1878-13C>T
NM_133642.5(LARGE1):c.1878-4T>A rs2145832389
NM_133642.5(LARGE1):c.1880A>C (p.Tyr627Ser)
NM_133642.5(LARGE1):c.1884C>T (p.His628=) rs78223631
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly) rs539747006
NM_133642.5(LARGE1):c.1893G>T (p.Thr631=) rs138011042
NM_133642.5(LARGE1):c.189G>A (p.Glu63=) rs1602978054
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr) rs150325234
NM_133642.5(LARGE1):c.1905A>G (p.Ala635=) rs756255025
NM_133642.5(LARGE1):c.1914C>T (p.Asn638=)
NM_133642.5(LARGE1):c.1920C>A (p.Ala640=) rs2145831959
NM_133642.5(LARGE1):c.1927C>T (p.Arg643Trp)
NM_133642.5(LARGE1):c.1932C>G (p.Thr644=)
NM_133642.5(LARGE1):c.1940C>T (p.Thr647Met)
NM_133642.5(LARGE1):c.1947C>T (p.Tyr649=)
NM_133642.5(LARGE1):c.1948C>A (p.Arg650=)
NM_133642.5(LARGE1):c.1948C>T (p.Arg650Trp)
NM_133642.5(LARGE1):c.1956G>A (p.Glu652=)
NM_133642.5(LARGE1):c.1966G>A (p.Asp656Asn)
NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu) rs778669044
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=) rs768565081
NM_133642.5(LARGE1):c.1978T>C (p.Tyr660His)
NM_133642.5(LARGE1):c.198G>A (p.Glu66=)
NM_133642.5(LARGE1):c.1991G>C (p.Arg664Thr) rs1929475941
NM_133642.5(LARGE1):c.1998C>G (p.Asp666Glu) rs144197077
NM_133642.5(LARGE1):c.1998C>T (p.Asp666=)
NM_133642.5(LARGE1):c.1999dup (p.Cys667fs)
NM_133642.5(LARGE1):c.2010C>T (p.Tyr670=)
NM_133642.5(LARGE1):c.2034C>G (p.Gly678=)
NM_133642.5(LARGE1):c.2046G>A (p.Val682=)
NM_133642.5(LARGE1):c.204C>T (p.Arg68=)
NM_133642.5(LARGE1):c.2052T>C (p.His684=)
NM_133642.5(LARGE1):c.2064G>A (p.Leu688=)
NM_133642.5(LARGE1):c.2073+12G>A rs377566674
NM_133642.5(LARGE1):c.2073+12G>T rs377566674
NM_133642.5(LARGE1):c.2073+13G>T
NM_133642.5(LARGE1):c.2073+16C>A
NM_133642.5(LARGE1):c.2073+20C>T
NM_133642.5(LARGE1):c.2074-11T>C
NM_133642.5(LARGE1):c.2074-12G>T
NM_133642.5(LARGE1):c.2074-16T>A
NM_133642.5(LARGE1):c.2074-18G>A rs1928830929
NM_133642.5(LARGE1):c.2074-18G>C
NM_133642.5(LARGE1):c.2074-18G>T
NM_133642.5(LARGE1):c.2074-3del rs2145803199
NM_133642.5(LARGE1):c.2074-4C>G
NM_133642.5(LARGE1):c.2074-7C>T
NM_133642.5(LARGE1):c.2074-8T>G rs2145803317
NM_133642.5(LARGE1):c.2078A>G (p.Tyr693Cys)
NM_133642.5(LARGE1):c.2079T>C (p.Tyr693=) rs996290544
NM_133642.5(LARGE1):c.2082_2105del (p.Glu694_Tyr702delinsAsp) rs1928816149
NM_133642.5(LARGE1):c.2091G>A (p.Val697=) rs2145802982
NM_133642.5(LARGE1):c.2097C>T (p.Pro699=)
NM_133642.5(LARGE1):c.2119C>G (p.Pro707Ala)
NM_133642.5(LARGE1):c.2130C>T (p.Pro710=)
NM_133642.5(LARGE1):c.2133C>T (p.Ser711=)
NM_133642.5(LARGE1):c.2139C>T (p.Asp713=)
NM_133642.5(LARGE1):c.2142T>C (p.Ile714=) rs1358320451
NM_133642.5(LARGE1):c.2148G>A (p.Lys716=) rs1602189714
NM_133642.5(LARGE1):c.2152C>T (p.Arg718Cys)
NM_133642.5(LARGE1):c.2153G>C (p.Arg718Pro) rs1263627262
NM_133642.5(LARGE1):c.2160C>T (p.Asn720=)
NM_133642.5(LARGE1):c.2166A>G (p.Gln722=)
NM_133642.5(LARGE1):c.216G>T (p.Val72=) rs567998643
NM_133642.5(LARGE1):c.2171G>A (p.Arg724His) rs376907568
NM_133642.5(LARGE1):c.2175C>G (p.Ile725Met) rs1928785534
NM_133642.5(LARGE1):c.2181C>G (p.Leu727=)
NM_133642.5(LARGE1):c.2190C>T (p.Leu730=)
NM_133642.5(LARGE1):c.2196A>G (p.Glu732=)
NM_133642.5(LARGE1):c.21G>A (p.Gly7=)
NM_133642.5(LARGE1):c.21G>T (p.Gly7=) rs2084726573
NM_133642.5(LARGE1):c.2206C>G (p.Gln736Glu) rs2145801430
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) rs757062605
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) rs1928773545
NM_133642.5(LARGE1):c.2217C>G (p.Ser739=) rs1406330296
NM_133642.5(LARGE1):c.2219G>A (p.Arg740His)
NM_133642.5(LARGE1):c.2221C>T (p.Arg741Cys)
NM_133642.5(LARGE1):c.2247T>C (p.Tyr749=)
NM_133642.5(LARGE1):c.2253A>G (p.Thr751=)
NM_133642.5(LARGE1):c.2256C>A (p.Ala752=) rs114246562
NM_133642.5(LARGE1):c.225G>A (p.Glu75=)
NM_133642.5(LARGE1):c.2261ACA[1] (p.Asn755del)
NM_133642.5(LARGE1):c.2262C>T (p.Asn754=)
NM_133642.5(LARGE1):c.2271G>A (p.Ter757=)
NM_133642.5(LARGE1):c.229C>G (p.Arg77Gly)
NM_133642.5(LARGE1):c.231C>T (p.Arg77=)
NM_133642.5(LARGE1):c.234C>T (p.Ala78=)
NM_133642.5(LARGE1):c.237C>T (p.Leu79=)
NM_133642.5(LARGE1):c.241A>C (p.Arg81=)
NM_133642.5(LARGE1):c.246G>T (p.Gln82His) rs768234422
NM_133642.5(LARGE1):c.247C>T (p.Leu83Phe) rs748795300
NM_133642.5(LARGE1):c.24A>G (p.Arg8=)
NM_133642.5(LARGE1):c.251G>T (p.Ser84Ile) rs398124184
NM_133642.5(LARGE1):c.254_259dup (p.Leu85_Ala86dup) rs759978690
NM_133642.5(LARGE1):c.255G>A (p.Leu85=)
NM_133642.5(LARGE1):c.265C>T (p.Arg89Ter) rs1359437833
NM_133642.5(LARGE1):c.276C>G (p.Ser92=)
NM_133642.5(LARGE1):c.27G>A (p.Arg9=) rs2145729287
NM_133642.5(LARGE1):c.281G>A (p.Arg94His) rs754383742
NM_133642.5(LARGE1):c.287G>A (p.Gly96Asp) rs1569341949
NM_133642.5(LARGE1):c.297C>T (p.Ser99=)
NM_133642.5(LARGE1):c.303C>T (p.Thr101=)
NM_133642.5(LARGE1):c.312G>A (p.Met104Ile)
NM_133642.5(LARGE1):c.321C>T (p.Gly107=)
NM_133642.5(LARGE1):c.326G>C (p.Gly109Ala) rs2149181937
NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter) rs146078928
NM_133642.5(LARGE1):c.336G>A (p.Glu112=) rs1555983855
NM_133642.5(LARGE1):c.336G>T (p.Glu112Asp) rs1555983855
NM_133642.5(LARGE1):c.344G>T (p.Arg115Leu) rs755087786
NM_133642.5(LARGE1):c.351C>T (p.Gly117=)
NM_133642.5(LARGE1):c.354C>T (p.Ile118=)
NM_133642.5(LARGE1):c.357G>T (p.Val119=)
NM_133642.5(LARGE1):c.366C>A (p.Asn122Lys) rs2080759268
NM_133642.5(LARGE1):c.36G>A (p.Leu12=) rs1601552169
NM_133642.5(LARGE1):c.372C>T (p.Ser124=)
NM_133642.5(LARGE1):c.374A>T (p.Glu125Val)
NM_133642.5(LARGE1):c.390G>A (p.Pro130=) rs114558328
NM_133642.5(LARGE1):c.392T>C (p.Val131Ala)
NM_133642.5(LARGE1):c.394G>A (p.Val132Met) rs913704656
NM_133642.5(LARGE1):c.405C>T (p.Cys135=)
NM_133642.5(LARGE1):c.408+17G>A
NM_133642.5(LARGE1):c.408+18C>T
NM_133642.5(LARGE1):c.408+19C>T
NM_133642.5(LARGE1):c.408+5A>G
NM_133642.5(LARGE1):c.409-15T>A
NM_133642.5(LARGE1):c.409-16C>T
NM_133642.5(LARGE1):c.420T>C (p.Val140=)
NM_133642.5(LARGE1):c.421G>A (p.Ala141Thr)
NM_133642.5(LARGE1):c.426T>C (p.Ile142=) rs745996591
NM_133642.5(LARGE1):c.438A>C (p.Gly146=)
NM_133642.5(LARGE1):c.443A>G (p.Asn148Ser)
NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser)
NM_133642.5(LARGE1):c.447C>G (p.Ala149=)
NM_133642.5(LARGE1):c.45G>T (p.Ser15=)
NM_133642.5(LARGE1):c.465C>T (p.Thr155=)
NM_133642.5(LARGE1):c.468G>C (p.Leu156=)
NM_133642.5(LARGE1):c.473A>C (p.Lys158Thr)
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) rs1372134080
NM_133642.5(LARGE1):c.47T>G (p.Leu16Trp) rs2145729155
NM_133642.5(LARGE1):c.483G>A (p.Leu161=) rs987732719
NM_133642.5(LARGE1):c.483del (p.Phe162fs)
NM_133642.5(LARGE1):c.488A>G (p.His163Arg) rs2149076676
NM_133642.5(LARGE1):c.491+11C>T rs781066281
NM_133642.5(LARGE1):c.491+14C>A
NM_133642.5(LARGE1):c.491+14C>G
NM_133642.5(LARGE1):c.491+19C>G
NM_133642.5(LARGE1):c.491+19C>T
NM_133642.5(LARGE1):c.491+20T>C
NM_133642.5(LARGE1):c.491+20T>G
NM_133642.5(LARGE1):c.491+9A>G
NM_133642.5(LARGE1):c.492-14C>A rs2079201212
NM_133642.5(LARGE1):c.492-20C>T rs373205336
NM_133642.5(LARGE1):c.492-4A>G
NM_133642.5(LARGE1):c.492-5C>T
NM_133642.5(LARGE1):c.492-6C>T
NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp) rs765312193
NM_133642.5(LARGE1):c.495G>T (p.Arg165=)
NM_133642.5(LARGE1):c.512A>G (p.His171Arg) rs2148979441
NM_133642.5(LARGE1):c.525C>T (p.Asp175=) rs2148979372
NM_133642.5(LARGE1):c.528C>T (p.Ser176=)
NM_133642.5(LARGE1):c.52C>T (p.Leu18Phe)
NM_133642.5(LARGE1):c.534G>A (p.Ala178=)
NM_133642.5(LARGE1):c.542T>A (p.Ile181Asn) rs2079198073
NM_133642.5(LARGE1):c.543C>T (p.Ile181=) rs1478658613
NM_133642.5(LARGE1):c.555C>G (p.Leu185=)
NM_133642.5(LARGE1):c.569T>A (p.Met190Lys) rs2079196838
NM_133642.5(LARGE1):c.573G>C (p.Val191=) rs2148979075
NM_133642.5(LARGE1):c.576C>G (p.Pro192=)
NM_133642.5(LARGE1):c.57C>T (p.Leu19=) rs1366657966
NM_133642.5(LARGE1):c.588G>A (p.Val196=)
NM_133642.5(LARGE1):c.592T>A (p.Phe198Ile) rs2148978976
NM_133642.5(LARGE1):c.594C>A (p.Phe198Leu)
NM_133642.5(LARGE1):c.599A>G (p.Asn200Ser) rs2148978936
NM_133642.5(LARGE1):c.606C>G (p.Asp202Glu) rs759394642
NM_133642.5(LARGE1):c.615+10G>A
NM_133642.5(LARGE1):c.615+12A>T
NM_133642.5(LARGE1):c.615+15G>A
NM_133642.5(LARGE1):c.615+19G>A
NM_133642.5(LARGE1):c.615+7G>A
NM_133642.5(LARGE1):c.615+7dup
NM_133642.5(LARGE1):c.616-13T>G
NM_133642.5(LARGE1):c.616-14C>A
NM_133642.5(LARGE1):c.616-18C>G
NM_133642.5(LARGE1):c.616-20C>A rs1235764173
NM_133642.5(LARGE1):c.616-20C>T
NM_133642.5(LARGE1):c.616-26CT[6]
NM_133642.5(LARGE1):c.616-4C>G
NM_133642.5(LARGE1):c.616-7T>G
NM_133642.5(LARGE1):c.620_621del (p.Glu207fs) rs2148785084
NM_133642.5(LARGE1):c.621A>C (p.Glu207Asp) rs926834717
NM_133642.5(LARGE1):c.624T>A (p.Val208=)
NM_133642.5(LARGE1):c.639T>C (p.Asn213=)
NM_133642.5(LARGE1):c.642A>G (p.Lys214=)
NM_133642.5(LARGE1):c.660T>C (p.Tyr220=)
NM_133642.5(LARGE1):c.681G>C (p.Leu227=)
NM_133642.5(LARGE1):c.684C>G (p.Thr228=)
NM_133642.5(LARGE1):c.690T>A (p.Thr230=)
NM_133642.5(LARGE1):c.690T>C (p.Thr230=) rs753562472
NM_133642.5(LARGE1):c.691C>A (p.Leu231Ile)
NM_133642.5(LARGE1):c.696T>C (p.Pro232=)
NM_133642.5(LARGE1):c.6G>A (p.Leu2=)
NM_133642.5(LARGE1):c.705G>A (p.Leu235=)
NM_133642.5(LARGE1):c.720C>T (p.Val240=)
NM_133642.5(LARGE1):c.728C>T (p.Thr243Met)
NM_133642.5(LARGE1):c.72C>T (p.Ile24=) rs727503994
NM_133642.5(LARGE1):c.731A>G (p.Asp244Gly)
NM_133642.5(LARGE1):c.73A>G (p.Thr25Ala) rs1556032013
NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn) rs1256101536
NM_133642.5(LARGE1):c.750C>T (p.Asp250=)
NM_133642.5(LARGE1):c.752T>A (p.Ile251Asn) rs2077976439
NM_133642.5(LARGE1):c.756A>G (p.Ala252=)
NM_133642.5(LARGE1):c.774C>T (p.Phe258=)
NM_133642.5(LARGE1):c.780G>A (p.Lys260=)
NM_133642.5(LARGE1):c.784A>G (p.Lys262Glu)
NM_133642.5(LARGE1):c.787+11C>T
NM_133642.5(LARGE1):c.787+17C>G
NM_133642.5(LARGE1):c.787+17C>T
NM_133642.5(LARGE1):c.787+18G>A
NM_133642.5(LARGE1):c.787+20T>G
NM_133642.5(LARGE1):c.787+5T>C rs763571538
NM_133642.5(LARGE1):c.788-11G>A
NM_133642.5(LARGE1):c.788-11G>T
NM_133642.5(LARGE1):c.788-15C>T
NM_133642.5(LARGE1):c.788-17T>A rs764260251
NM_133642.5(LARGE1):c.788-17T>C
NM_133642.5(LARGE1):c.788-18A>G
NM_133642.5(LARGE1):c.788-2A>G
NM_133642.5(LARGE1):c.788-5_826del rs2147722687
NM_133642.5(LARGE1):c.788-8C>T
NM_133642.5(LARGE1):c.801G>C (p.Leu267=)
NM_133642.5(LARGE1):c.804C>A (p.Gly268=)
NM_133642.5(LARGE1):c.807G>A (p.Leu269=)
NM_133642.5(LARGE1):c.856C>T (p.Arg286Cys)
NM_133642.5(LARGE1):c.861A>G (p.Pro287=) rs1257326994
NM_133642.5(LARGE1):c.861A>T (p.Pro287=)
NM_133642.5(LARGE1):c.864G>A (p.Trp288Ter)
NM_133642.5(LARGE1):c.872T>A (p.Leu291His)
NM_133642.5(LARGE1):c.87G>A (p.Leu29=)
NM_133642.5(LARGE1):c.87G>C (p.Leu29=) rs2145728903
NM_133642.5(LARGE1):c.885C>T (p.Tyr295=) rs1601816355
NM_133642.5(LARGE1):c.892+11A>G
NM_133642.5(LARGE1):c.892+11_892+12del
NM_133642.5(LARGE1):c.892+19A>C
NM_133642.5(LARGE1):c.892+7C>A
NM_133642.5(LARGE1):c.892+8C>T
NM_133642.5(LARGE1):c.893-10T>C
NM_133642.5(LARGE1):c.893-13T>C
NM_133642.5(LARGE1):c.893-14G>A
NM_133642.5(LARGE1):c.893-15T>G
NM_133642.5(LARGE1):c.893-16C>T
NM_133642.5(LARGE1):c.893-19A>T
NM_133642.5(LARGE1):c.893-21_893-20del
NM_133642.5(LARGE1):c.893-7T>C
NM_133642.5(LARGE1):c.893-9_893-8insATCCTGTGCTGCTGCCCAGGGGTG
NM_133642.5(LARGE1):c.895G>A (p.Val299Met) rs1490201857
NM_133642.5(LARGE1):c.897G>C (p.Val299=) rs532067255
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_133642.5(LARGE1):c.912G>A (p.Leu304=)
NM_133642.5(LARGE1):c.919C>T (p.Leu307=)
NM_133642.5(LARGE1):c.922C>A (p.Arg308=)
NM_133642.5(LARGE1):c.922_923delinsAA (p.Arg308Lys) rs2147135450
NM_133642.5(LARGE1):c.924G>A (p.Arg308=) rs528836583
NM_133642.5(LARGE1):c.933A>G (p.Lys311=)
NM_133642.5(LARGE1):c.939G>A (p.Glu313=)
NM_133642.5(LARGE1):c.940C>G (p.Gln314Glu) rs559892854
NM_133642.5(LARGE1):c.941_945dup (p.Trp316fs)
NM_133642.5(LARGE1):c.942G>T (p.Gln314His) rs776701293
NM_133642.5(LARGE1):c.957C>A (p.Thr319=) rs778094231
NM_133642.5(LARGE1):c.958G>T (p.Ala320Ser) rs374774937
NM_133642.5(LARGE1):c.963G>A (p.Glu321=)
NM_133642.5(LARGE1):c.969G>T (p.Glu323Asp) rs2065251813
NM_133642.5(LARGE1):c.96del (p.Ser33fs)
NM_133642.5(LARGE1):c.972C>T (p.Leu324=)
NM_133642.5(LARGE1):c.974T>C (p.Met325Thr) rs2065251491
NM_133642.5(LARGE1):c.978C>T (p.Gly326=) rs2065251221
NM_133642.5(LARGE1):c.984C>G (p.Leu328=)
NM_133642.5(LARGE1):c.987T>C (p.Ser329=)

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