ClinVar Miner

List of variants in gene LARGE1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 532
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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.2100C>T (p.Asn700=) rs17722172 0.04733
NM_133642.5(LARGE1):c.2073+152G>A rs2075921 0.04155
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
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.1452-293A>G rs1555007 0.02310
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.408+269G>A rs16992701 0.01756
NM_133642.5(LARGE1):c.788-65A>G rs80069366 0.01526
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_133642.5(LARGE1):c.1131+221C>T rs16992221 0.01412
NM_133642.5(LARGE1):c.1288-125G>A rs117098200 0.01356
NM_133642.5(LARGE1):c.2074-265G>A rs16992044 0.01297
NM_133642.5(LARGE1):c.491+204G>A rs117818422 0.01119
NM_133642.5(LARGE1):c.2074-98G>C rs41282599 0.01097
NM_133642.5(LARGE1):c.1005+282G>A rs116177817 0.01071
NM_133642.5(LARGE1):c.1131+110G>T rs78374444 0.01046
NM_133642.5(LARGE1):c.1287+146C>T rs138816517 0.00980
NM_133642.5(LARGE1):c.1452-226_1452-225insGATATCA rs1569034184 0.00933
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_133642.5(LARGE1):c.2073+36C>T rs41302579 0.00883
NM_133642.5(LARGE1):c.1877+99C>T rs79668268 0.00826
NM_133642.5(LARGE1):c.1451+38C>T rs80016718 0.00792
NM_133642.5(LARGE1):c.1287+56A>G rs112252346 0.00774
NM_133642.5(LARGE1):c.1131+58C>T rs144087511 0.00746
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.-83+187C>T rs77908284 0.00605
NM_133642.5(LARGE1):c.1005+176C>T rs73882212 0.00597
NM_133642.5(LARGE1):c.*1235A>G rs1801820 0.00578
NM_133642.5(LARGE1):c.788-29A>G rs147579402 0.00569
NM_133642.5(LARGE1):c.1005+98G>A rs2235151 0.00503
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_133642.5(LARGE1):c.-83+63134A>G rs148432069 0.00374
NM_133642.5(LARGE1):c.1451+273A>G rs190325661 0.00354
NM_133642.5(LARGE1):c.408+42C>T rs183384695 0.00330
NM_133642.5(LARGE1):c.616-304T>G rs182874546 0.00227
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.-83+63246C>T rs142710671 0.00158
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
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.1092C>T (p.Thr364=) rs144216539 0.00100
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.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.391G>A (p.Val131Ile) rs56239539 0.00027
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
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.409-21C>T rs149859888 0.00021
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.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
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.708G>A (p.Glu236=) rs202028671 0.00011
NM_133642.5(LARGE1):c.787+14del rs757463406 0.00011
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=) rs369773678 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.1005+17G>A rs371887551 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.252C>T (p.Ser84=) rs56202589 0.00006
NM_133642.5(LARGE1):c.534G>C (p.Ala178=) rs772655607 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.-82-19T>C rs768214949 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.1451+11C>T rs201322547 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.259C>A (p.Gln87Lys) rs373853930 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.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.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.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.63C>A (p.Ile21=) rs759218415 0.00003
NM_133642.5(LARGE1):c.957C>T (p.Thr319=) rs778094231 0.00003
NM_133642.5(LARGE1):c.-83+63195C>A rs1326085467 0.00002
NM_133642.5(LARGE1):c.107-8C>T rs1006989010 0.00002
NM_133642.5(LARGE1):c.1132-8C>T rs748964975 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.1785C>T (p.Pro595=) rs751341620 0.00002
NM_133642.5(LARGE1):c.1878-24A>G rs375863881 0.00002
NM_133642.5(LARGE1):c.1965C>T (p.Ala655=) rs368632863 0.00002
NM_133642.5(LARGE1):c.2169C>T (p.Tyr723=) rs1000835027 0.00002
NM_133642.5(LARGE1):c.408+7G>A rs371246157 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.606C>T (p.Asp202=) rs759394642 0.00002
NM_133642.5(LARGE1):c.615+8C>T rs587783731 0.00002
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.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.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.1416G>A (p.Thr472=) rs755991003 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.1557C>T (p.Gly519=) rs763782820 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.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.2074-6T>C rs775368005 0.00001
NM_133642.5(LARGE1):c.219G>A (p.Glu73=) rs2080766768 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.276C>T (p.Ser92=) rs759755959 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.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.492-6C>G rs762612242 0.00001
NM_133642.5(LARGE1):c.546G>A (p.Leu182=) rs755661957 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.787+14A>T rs776201139 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.904T>C (p.Leu302=) rs755445182 0.00001
NM_133642.5(LARGE1):c.942G>A (p.Gln314=) rs776701293 0.00001
GRCh37/hg19 22q12.3(chr22:33923345-33983594)x1
GRCh37/hg19 22q12.3(chr22:33932070-34315594)x1
GRCh37/hg19 22q12.3(chr22:34098416-34197367)x1
GRCh37/hg19 22q12.3(chr22:34130912-34188220)x1
GRCh37/hg19 22q12.3(chr22:34146948-34311815)x3
GRCh37/hg19 22q12.3(chr22:34287350-34315294)x3
NM_133642.5(LARGE1):c.-82-16_-82-15del rs1556032157
NM_133642.5(LARGE1):c.-83+63247G>A rs917246646
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+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.1029A>G (p.Lys343=)
NM_133642.5(LARGE1):c.102C>T (p.Phe34=)
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+14C>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.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+15G>C
NM_133642.5(LARGE1):c.1131+16G>T
NM_133642.5(LARGE1):c.1131+17G>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.1132-4C>A
NM_133642.5(LARGE1):c.1132-4C>T
NM_133642.5(LARGE1):c.1132-5G>T
NM_133642.5(LARGE1):c.1140C>T (p.His380=)
NM_133642.5(LARGE1):c.1170G>A (p.Lys390=)
NM_133642.5(LARGE1):c.1176G>A (p.Lys392=)
NM_133642.5(LARGE1):c.117C>A (p.Pro39=) rs140622529
NM_133642.5(LARGE1):c.1185G>A (p.Glu395=) rs1431706655
NM_133642.5(LARGE1):c.1200C>G (p.Leu400=)
NM_133642.5(LARGE1):c.1206G>A (p.Leu402=) rs982770696
NM_133642.5(LARGE1):c.120G>A (p.Val40=)
NM_133642.5(LARGE1):c.1224C>T (p.Asp408=)
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.1254C>T (p.Gly418=)
NM_133642.5(LARGE1):c.1257C>T (p.Cys419=)
NM_133642.5(LARGE1):c.1272T>C (p.Asp424=)
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.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.129A>G (p.Ser43=)
NM_133642.5(LARGE1):c.1314C>T (p.Asp438=)
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.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.1392G>A (p.Glu464=)
NM_133642.5(LARGE1):c.1419C>T (p.Asp473=)
NM_133642.5(LARGE1):c.1428G>A (p.Leu476=)
NM_133642.5(LARGE1):c.1431C>G (p.Val477=) rs987466965
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.1452-1058A>T
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.1452-28C>T rs76647066
NM_133642.5(LARGE1):c.1452-7C>T rs760909985
NM_133642.5(LARGE1):c.1452-9C>A
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.1488G>A (p.Glu496=)
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.1536G>A (p.Gln512=)
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.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.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.1602G>A (p.Val534=)
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.1656G>A (p.Lys552=) rs138573955
NM_133642.5(LARGE1):c.1659C>T (p.His553=)
NM_133642.5(LARGE1):c.1683G>A (p.Leu561=) rs2146163430
NM_133642.5(LARGE1):c.16A>C (p.Arg6=) rs886038552
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+7A>C
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.1731-10C>T rs772579469
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.1761C>T (p.Asn587=)
NM_133642.5(LARGE1):c.1770A>G (p.Lys590=)
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.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.1851G>A (p.Leu617=)
NM_133642.5(LARGE1):c.1863C>A (p.Thr621=) rs1602229376
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.1884C>T (p.His628=) rs78223631
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.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.1920C>G (p.Ala640=)
NM_133642.5(LARGE1):c.1932C>G (p.Thr644=)
NM_133642.5(LARGE1):c.1947C>T (p.Tyr649=)
NM_133642.5(LARGE1):c.1948C>A (p.Arg650=)
NM_133642.5(LARGE1):c.1956G>A (p.Glu652=)
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=) rs768565081
NM_133642.5(LARGE1):c.198G>A (p.Glu66=)
NM_133642.5(LARGE1):c.1998C>T (p.Asp666=)
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>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.2079T>C (p.Tyr693=) rs996290544
NM_133642.5(LARGE1):c.2091G>A (p.Val697=) rs2145802982
NM_133642.5(LARGE1):c.2097C>T (p.Pro699=)
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.2160C>T (p.Asn720=)
NM_133642.5(LARGE1):c.2166A>G (p.Gln722=)
NM_133642.5(LARGE1):c.216G>C (p.Val72=) rs567998643
NM_133642.5(LARGE1):c.216G>T (p.Val72=) rs567998643
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.2217C>G (p.Ser739=) rs1406330296
NM_133642.5(LARGE1):c.2247T>C (p.Tyr749=)
NM_133642.5(LARGE1):c.2253A>G (p.Thr751=)
NM_133642.5(LARGE1):c.225G>A (p.Glu75=)
NM_133642.5(LARGE1):c.2262C>T (p.Asn754=)
NM_133642.5(LARGE1):c.2271G>A (p.Ter757=)
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.24A>G (p.Arg8=)
NM_133642.5(LARGE1):c.255G>A (p.Leu85=)
NM_133642.5(LARGE1):c.276C>G (p.Ser92=)
NM_133642.5(LARGE1):c.27G>A (p.Arg9=) rs2145729287
NM_133642.5(LARGE1):c.297C>T (p.Ser99=)
NM_133642.5(LARGE1):c.303C>T (p.Thr101=)
NM_133642.5(LARGE1):c.321C>T (p.Gly107=)
NM_133642.5(LARGE1):c.336G>A (p.Glu112=) rs1555983855
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.36G>A (p.Leu12=) rs1601552169
NM_133642.5(LARGE1):c.372C>T (p.Ser124=)
NM_133642.5(LARGE1):c.390G>A (p.Pro130=) rs114558328
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.409-15T>A
NM_133642.5(LARGE1):c.409-16C>T
NM_133642.5(LARGE1):c.409-39G>C rs145859359
NM_133642.5(LARGE1):c.420T>C (p.Val140=)
NM_133642.5(LARGE1):c.426T>C (p.Ile142=) rs745996591
NM_133642.5(LARGE1):c.438A>C (p.Gly146=)
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.483G>A (p.Leu161=) rs987732719
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.495G>T (p.Arg165=)
NM_133642.5(LARGE1):c.525C>T (p.Asp175=) rs2148979372
NM_133642.5(LARGE1):c.528C>T (p.Ser176=)
NM_133642.5(LARGE1):c.534G>A (p.Ala178=)
NM_133642.5(LARGE1):c.543C>T (p.Ile181=) rs1478658613
NM_133642.5(LARGE1):c.549C>T (p.Ala183=) rs1602669837
NM_133642.5(LARGE1):c.555C>G (p.Leu185=)
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.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.616-39del rs201800550
NM_133642.5(LARGE1):c.616-4C>G
NM_133642.5(LARGE1):c.616-7T>G
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.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.72C>T (p.Ile24=) rs727503994
NM_133642.5(LARGE1):c.750C>T (p.Asp250=)
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.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.788-331_788-330insATGCATGCATGA rs146169927
NM_133642.5(LARGE1):c.788-333ATGA[11] rs10626676
NM_133642.5(LARGE1):c.788-346CATG[5] rs1555916106
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.861A>G (p.Pro287=) rs1257326994
NM_133642.5(LARGE1):c.861A>T (p.Pro287=)
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.893-10_893-7del
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.893-4C>A
NM_133642.5(LARGE1):c.893-7T>C
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.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.957C>A (p.Thr319=) rs778094231
NM_133642.5(LARGE1):c.963G>A (p.Glu321=)
NM_133642.5(LARGE1):c.972C>T (p.Leu324=)
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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