ClinVar Miner

List of variants in gene HNRNPU studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 878
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.261G>A (p.Glu87=) rs6675421 0.28876
NM_031844.3(HNRNPU):c.2352+14A>T rs57080269 0.02263
NM_031844.3(HNRNPU):c.803+11C>T rs74152197 0.01825
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) rs11537737 0.00657
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) rs111518952 0.00536
NM_031844.3(HNRNPU):c.1743+8G>T rs75674611 0.00304
NM_031844.3(HNRNPU):c.1743+10A>C rs75053711 0.00248
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) rs147232928 0.00161
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=) rs139561508 0.00049
NM_031844.3(HNRNPU):c.2166A>C (p.Gly722=) rs140234240 0.00048
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) rs142767399 0.00045
NM_031844.3(HNRNPU):c.2168-12C>G rs200427582 0.00025
NM_031844.3(HNRNPU):c.83A>G (p.Lys28Arg) rs200952460 0.00015
NM_031844.3(HNRNPU):c.621G>A (p.Gln207=) rs759528610 0.00013
NM_031844.3(HNRNPU):c.2227G>A (p.Gly743Ser) rs144984907 0.00011
NM_031844.3(HNRNPU):c.1654C>T (p.Leu552=) rs115612462 0.00009
NM_031844.3(HNRNPU):c.1182A>G (p.Glu394=) rs201766865 0.00007
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) rs199596170 0.00007
NM_031844.3(HNRNPU):c.531C>A (p.Arg177=) rs376987913 0.00007
NM_031844.3(HNRNPU):c.1208A>C (p.Asn403Thr) rs767181341 0.00006
NM_031844.3(HNRNPU):c.1268A>G (p.Lys423Arg) rs760669739 0.00006
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) rs373039242 0.00006
NM_031844.3(HNRNPU):c.2184C>T (p.Gly728=) rs367547431 0.00006
NM_031844.3(HNRNPU):c.567C>T (p.Gly189=) rs756832741 0.00006
NM_031844.3(HNRNPU):c.603C>T (p.Pro201=) rs759371036 0.00006
NM_031844.3(HNRNPU):c.813T>G (p.Ser271=) rs377602750 0.00006
NM_031844.3(HNRNPU):c.837A>T (p.Glu279Asp) rs538951206 0.00006
NM_031844.3(HNRNPU):c.1017+10A>G rs778904488 0.00005
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala) rs199740131 0.00005
NM_031844.3(HNRNPU):c.1575T>C (p.Tyr525=) rs112266429 0.00005
NM_031844.3(HNRNPU):c.1794C>T (p.Gly598=) rs369567187 0.00005
NM_031844.3(HNRNPU):c.282A>G (p.Glu94=) rs990170673 0.00005
NM_031844.3(HNRNPU):c.458G>A (p.Gly153Asp) rs369208639 0.00005
NM_031844.3(HNRNPU):c.62A>G (p.Lys21Arg) rs755839601 0.00005
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val) rs200962317 0.00004
NM_031844.3(HNRNPU):c.1156A>G (p.Ile386Val) rs745485838 0.00004
NM_031844.3(HNRNPU):c.1434C>T (p.Asn478=) rs778730784 0.00004
NM_031844.3(HNRNPU):c.1913-14T>C rs560347792 0.00004
NM_031844.3(HNRNPU):c.1952A>C (p.Glu651Ala) rs202115297 0.00004
NM_031844.3(HNRNPU):c.2083A>G (p.Ser695Gly) rs544008777 0.00004
NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala) rs199765762 0.00004
NM_031844.3(HNRNPU):c.1117+9T>G rs757861230 0.00003
NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu) rs778010676 0.00003
NM_031844.3(HNRNPU):c.1548A>G (p.Lys516=) rs1375842097 0.00003
NM_031844.3(HNRNPU):c.157A>G (p.Met53Val) rs770396451 0.00003
NM_031844.3(HNRNPU):c.1615-10T>C rs193281914 0.00003
NM_031844.3(HNRNPU):c.172G>A (p.Gly58Ser) rs943805343 0.00003
NM_031844.3(HNRNPU):c.1893T>C (p.His631=) rs146426697 0.00003
NM_031844.3(HNRNPU):c.1912+18T>C rs761282964 0.00003
NM_031844.3(HNRNPU):c.1912+19G>A rs1054002781 0.00003
NM_031844.3(HNRNPU):c.1913-7C>G rs746741412 0.00003
NM_031844.3(HNRNPU):c.2269C>T (p.Pro757Ser) rs921745963 0.00003
NM_031844.3(HNRNPU):c.2274T>G (p.Val758=) rs748148223 0.00003
NM_031844.3(HNRNPU):c.680C>T (p.Ala227Val) rs755670533 0.00003
NM_031844.3(HNRNPU):c.875C>T (p.Thr292Ile) rs141449330 0.00003
NM_031844.3(HNRNPU):c.878-10A>G rs758558193 0.00003
NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=) rs761416400 0.00002
NM_031844.3(HNRNPU):c.1433A>G (p.Asn478Ser) rs745596089 0.00002
NM_031844.3(HNRNPU):c.165C>T (p.Pro55=) rs749296514 0.00002
NM_031844.3(HNRNPU):c.1996T>C (p.Leu666=) rs755861836 0.00002
NM_031844.3(HNRNPU):c.2138A>G (p.Asn713Ser) rs200887441 0.00002
NM_031844.3(HNRNPU):c.2204A>G (p.Asn735Ser) rs1254900423 0.00002
NM_031844.3(HNRNPU):c.222C>G (p.Leu74=) rs201337749 0.00002
NM_031844.3(HNRNPU):c.2284C>T (p.Arg762Cys) rs540601048 0.00002
NM_031844.3(HNRNPU):c.2350C>G (p.Gln784Glu) rs372614557 0.00002
NM_031844.3(HNRNPU):c.2352+12A>G rs766741192 0.00002
NM_031844.3(HNRNPU):c.2375A>G (p.Asn792Ser) rs748194079 0.00002
NM_031844.3(HNRNPU):c.2424+16T>C rs537512846 0.00002
NM_031844.3(HNRNPU):c.2425-7C>T rs747537573 0.00002
NM_031844.3(HNRNPU):c.611G>C (p.Arg204Thr) rs201849132 0.00002
NM_031844.3(HNRNPU):c.683C>G (p.Pro228Arg) rs752642837 0.00002
NM_031844.3(HNRNPU):c.692-14C>T rs201729220 0.00002
NM_031844.3(HNRNPU):c.817C>A (p.Gln273Lys) rs373483406 0.00002
NM_031844.3(HNRNPU):c.1000G>C (p.Val334Leu) rs772372487 0.00001
NM_031844.3(HNRNPU):c.1086C>T (p.Gly362=) rs556474465 0.00001
NM_031844.3(HNRNPU):c.1118-6T>C rs145037892 0.00001
NM_031844.3(HNRNPU):c.1140G>A (p.Gly380=) rs1386177443 0.00001
NM_031844.3(HNRNPU):c.1168A>G (p.Asn390Asp) rs1363920060 0.00001
NM_031844.3(HNRNPU):c.1180G>C (p.Glu394Gln) rs371598663 0.00001
NM_031844.3(HNRNPU):c.1183G>C (p.Asp395His) rs777962801 0.00001
NM_031844.3(HNRNPU):c.1189G>A (p.Gly397Arg) rs1680748404 0.00001
NM_031844.3(HNRNPU):c.1214T>C (p.Val405Ala) rs936983140 0.00001
NM_031844.3(HNRNPU):c.1216A>G (p.Ile406Val) rs773409645 0.00001
NM_031844.3(HNRNPU):c.1230+18T>G rs369082252 0.00001
NM_031844.3(HNRNPU):c.1231-5A>G rs952414764 0.00001
NM_031844.3(HNRNPU):c.1238A>G (p.Glu413Gly) rs1290271612 0.00001
NM_031844.3(HNRNPU):c.1272T>C (p.Asn424=) rs768082015 0.00001
NM_031844.3(HNRNPU):c.1287C>T (p.Gly429=) rs754530060 0.00001
NM_031844.3(HNRNPU):c.1288G>A (p.Val430Ile) rs772732188 0.00001
NM_031844.3(HNRNPU):c.1292C>G (p.Ala431Gly) rs769350097 0.00001
NM_031844.3(HNRNPU):c.1324C>T (p.Arg442Trp) rs1240447811 0.00001
NM_031844.3(HNRNPU):c.132C>T (p.Asp44=) rs1260101788 0.00001
NM_031844.3(HNRNPU):c.1338G>T (p.Pro446=) rs752673312 0.00001
NM_031844.3(HNRNPU):c.1405A>G (p.Ile469Val) rs370427995 0.00001
NM_031844.3(HNRNPU):c.1439C>T (p.Pro480Leu) rs1171471843 0.00001
NM_031844.3(HNRNPU):c.1441T>A (p.Leu481Ile) rs930828143 0.00001
NM_031844.3(HNRNPU):c.1458A>G (p.Arg486=) rs748355426 0.00001
NM_031844.3(HNRNPU):c.1488T>C (p.Asp496=) rs755100242 0.00001
NM_031844.3(HNRNPU):c.1494+14T>G rs750711704 0.00001
NM_031844.3(HNRNPU):c.1495-11C>T rs1049179447 0.00001
NM_031844.3(HNRNPU):c.1495-16C>T rs780642044 0.00001
NM_031844.3(HNRNPU):c.1543A>G (p.Thr515Ala) rs757616624 0.00001
NM_031844.3(HNRNPU):c.1578C>T (p.Asn526=) rs760203789 0.00001
NM_031844.3(HNRNPU):c.1590A>G (p.Thr530=) rs1466576939 0.00001
NM_031844.3(HNRNPU):c.159G>A (p.Met53Ile) rs976496273 0.00001
NM_031844.3(HNRNPU):c.1614+7A>G rs1359131241 0.00001
NM_031844.3(HNRNPU):c.1743+4C>T rs115917666 0.00001
NM_031844.3(HNRNPU):c.1744-19T>G rs758459772 0.00001
NM_031844.3(HNRNPU):c.1826A>G (p.Lys609Arg) rs761602649 0.00001
NM_031844.3(HNRNPU):c.183C>T (p.Asp61=) rs1234071642 0.00001
NM_031844.3(HNRNPU):c.1875G>C (p.Gly625=) rs774533310 0.00001
NM_031844.3(HNRNPU):c.1913-8T>C rs868188663 0.00001
NM_031844.3(HNRNPU):c.1926C>T (p.Leu642=) rs574556630 0.00001
NM_031844.3(HNRNPU):c.1954A>G (p.Ile652Val) rs1261806485 0.00001
NM_031844.3(HNRNPU):c.1958C>T (p.Thr653Ile) rs1206290880 0.00001
NM_031844.3(HNRNPU):c.1968A>G (p.Glu656=) rs1245826828 0.00001
NM_031844.3(HNRNPU):c.2009A>G (p.Lys670Arg) rs937095421 0.00001
NM_031844.3(HNRNPU):c.2013A>G (p.Glu671=) rs373573514 0.00001
NM_031844.3(HNRNPU):c.2028T>C (p.Ala676=) rs765207574 0.00001
NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=) rs1680670991 0.00001
NM_031844.3(HNRNPU):c.2052C>T (p.Asn684=) rs1680670133 0.00001
NM_031844.3(HNRNPU):c.206G>C (p.Arg69Pro) rs754427497 0.00001
NM_031844.3(HNRNPU):c.210G>C (p.Ser70=) rs761107762 0.00001
NM_031844.3(HNRNPU):c.2164G>A (p.Gly722Arg) rs1475137624 0.00001
NM_031844.3(HNRNPU):c.2167+15A>C rs780932517 0.00001
NM_031844.3(HNRNPU):c.2168-6T>A rs1283465496 0.00001
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=) rs372228779 0.00001
NM_031844.3(HNRNPU):c.2226C>T (p.Gly742=) rs759916978 0.00001
NM_031844.3(HNRNPU):c.2247C>T (p.Ile749=) rs1060504188 0.00001
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser) rs1360721056 0.00001
NM_031844.3(HNRNPU):c.2252A>G (p.Tyr751Cys) rs772644265 0.00001
NM_031844.3(HNRNPU):c.2285G>A (p.Arg762His) rs768453396 0.00001
NM_031844.3(HNRNPU):c.2313C>T (p.Tyr771=) rs201310004 0.00001
NM_031844.3(HNRNPU):c.2353-22_2353-17del rs1454005442 0.00001
NM_031844.3(HNRNPU):c.2359A>C (p.Arg787=) rs1232065158 0.00001
NM_031844.3(HNRNPU):c.235G>A (p.Ala79Thr) rs1245925607 0.00001
NM_031844.3(HNRNPU):c.288C>T (p.Ile96=) rs746145300 0.00001
NM_031844.3(HNRNPU):c.30G>A (p.Lys10=) rs1319381762 0.00001
NM_031844.3(HNRNPU):c.317T>C (p.Leu106Pro) rs369111527 0.00001
NM_031844.3(HNRNPU):c.318A>G (p.Leu106=) rs1003329200 0.00001
NM_031844.3(HNRNPU):c.336C>T (p.Ala112=) rs753169165 0.00001
NM_031844.3(HNRNPU):c.380C>T (p.Ala127Val) rs776690627 0.00001
NM_031844.3(HNRNPU):c.393G>A (p.Glu131=) rs1262700547 0.00001
NM_031844.3(HNRNPU):c.394A>G (p.Asn132Asp) rs1414347355 0.00001
NM_031844.3(HNRNPU):c.402C>T (p.Asp134=) rs1263252282 0.00001
NM_031844.3(HNRNPU):c.429T>C (p.Asp143=) rs555895621 0.00001
NM_031844.3(HNRNPU):c.439G>A (p.Asp147Asn) rs781659437 0.00001
NM_031844.3(HNRNPU):c.446A>G (p.Glu149Gly) rs375569535 0.00001
NM_031844.3(HNRNPU):c.453C>T (p.Gly151=) rs757950940 0.00001
NM_031844.3(HNRNPU):c.465G>A (p.Glu155=) rs776778115 0.00001
NM_031844.3(HNRNPU):c.489T>G (p.Pro163=) rs760562563 0.00001
NM_031844.3(HNRNPU):c.533G>C (p.Gly178Ala) rs1345467904 0.00001
NM_031844.3(HNRNPU):c.551C>T (p.Ala184Val) rs1680922433 0.00001
NM_031844.3(HNRNPU):c.553G>A (p.Gly185Arg) rs780326561 0.00001
NM_031844.3(HNRNPU):c.561C>T (p.Ser187=) rs750106010 0.00001
NM_031844.3(HNRNPU):c.565G>A (p.Gly189Ser) rs368440067 0.00001
NM_031844.3(HNRNPU):c.607G>A (p.Ala203Thr) rs773306715 0.00001
NM_031844.3(HNRNPU):c.624G>A (p.Gln208=) rs1372261485 0.00001
NM_031844.3(HNRNPU):c.659G>T (p.Gly220Val) rs1463061163 0.00001
NM_031844.3(HNRNPU):c.692-7G>A rs1315333777 0.00001
NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser) rs1014292464 0.00001
NM_031844.3(HNRNPU):c.803+12T>A rs777993902 0.00001
NM_031844.3(HNRNPU):c.804-7C>T rs370940607 0.00001
NM_031844.3(HNRNPU):c.81C>T (p.Asp27=) rs1259160579 0.00001
NM_031844.3(HNRNPU):c.936A>G (p.Thr312=) rs759104889 0.00001
NM_031844.3(HNRNPU):c.981T>C (p.Tyr327=) rs1060504189 0.00001
NM_031844.3(HNRNPU):c.991A>G (p.Lys331Glu) rs375383329 0.00001
NM_031844.3(HNRNPU):c.998A>C (p.Lys333Thr) rs747886979 0.00001
GRCh37/hg19 1q44(chr1:245016933-245028969)x1
NC_000001.10:g.(?_245017752)_(245027609_?)dup
NC_000001.10:g.(?_245018389)_(245019742_?)del
NC_000001.10:g.(?_245025750)_(245027576_?)del
NC_000001.11:g.(?_244860315)_(244862750_?)del
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_031844.3(HNRNPU):c.1000G>A (p.Val334Met)
NM_031844.3(HNRNPU):c.1008T>A (p.Phe336Leu)
NM_031844.3(HNRNPU):c.1010A>C (p.Glu337Ala) rs2102988050
NM_031844.3(HNRNPU):c.1013T>C (p.Met338Thr)
NM_031844.3(HNRNPU):c.1017+15A>G
NM_031844.3(HNRNPU):c.1017+17G>T
NM_031844.3(HNRNPU):c.1017+18A>T
NM_031844.3(HNRNPU):c.1017+5A>G
NM_031844.3(HNRNPU):c.1017+8C>G rs1553283026
NM_031844.3(HNRNPU):c.1017+8C>T rs1553283026
NM_031844.3(HNRNPU):c.1018-14G>A
NM_031844.3(HNRNPU):c.1018-7C>T
NM_031844.3(HNRNPU):c.1018-8A>T rs1573333012
NM_031844.3(HNRNPU):c.1023A>G (p.Thr341=)
NM_031844.3(HNRNPU):c.1028A>G (p.Lys343Arg)
NM_031844.3(HNRNPU):c.1030A>G (p.Ile344Val) rs1377845040
NM_031844.3(HNRNPU):c.1032C>A (p.Ile344=)
NM_031844.3(HNRNPU):c.1032C>T (p.Ile344=)
NM_031844.3(HNRNPU):c.1034C>T (p.Pro345Leu)
NM_031844.3(HNRNPU):c.1035A>G (p.Pro345=) rs770985819
NM_031844.3(HNRNPU):c.1039A>G (p.Arg347Gly)
NM_031844.3(HNRNPU):c.103A>C (p.Met35Leu)
NM_031844.3(HNRNPU):c.1041G>A (p.Arg347=)
NM_031844.3(HNRNPU):c.1053A>G (p.Thr351=) rs2102987473
NM_031844.3(HNRNPU):c.1060_1061del (p.Asp353_Ile354insTer) rs2102987471
NM_031844.3(HNRNPU):c.1064A>T (p.Asp355Val) rs1680764764
NM_031844.3(HNRNPU):c.1069C>T (p.His357Tyr)
NM_031844.3(HNRNPU):c.1071T>C (p.His357=)
NM_031844.3(HNRNPU):c.1078C>T (p.Arg360Cys)
NM_031844.3(HNRNPU):c.1085G>T (p.Gly362Val)
NM_031844.3(HNRNPU):c.1089G>T (p.Trp363Cys) rs1135401732
NM_031844.3(HNRNPU):c.1099A>G (p.Thr367Ala)
NM_031844.3(HNRNPU):c.109C>A (p.Arg37=)
NM_031844.3(HNRNPU):c.1102dup (p.Ser368fs)
NM_031844.3(HNRNPU):c.1104T>C (p.Ser368=)
NM_031844.3(HNRNPU):c.1106G>C (p.Gly369Ala) rs1475265666
NM_031844.3(HNRNPU):c.1117+10C>T
NM_031844.3(HNRNPU):c.1117+10_1117+12del rs745941525
NM_031844.3(HNRNPU):c.1117+1G>C rs1558188078
NM_031844.3(HNRNPU):c.1117+6G>T rs1553282840
NM_031844.3(HNRNPU):c.1118-11T>G
NM_031844.3(HNRNPU):c.1118-13_1118-10del rs778392648
NM_031844.3(HNRNPU):c.1118-15T>C
NM_031844.3(HNRNPU):c.1118-18G>T rs2102987195
NM_031844.3(HNRNPU):c.1118-1G>A rs2102987183
NM_031844.3(HNRNPU):c.1118-7_1118-3del rs1064796710
NM_031844.3(HNRNPU):c.1118-9T>C rs2102987192
NM_031844.3(HNRNPU):c.1118G>A (p.Gly373Asp) rs2102987181
NM_031844.3(HNRNPU):c.1119T>G (p.Gly373=) rs2102987178
NM_031844.3(HNRNPU):c.1120G>A (p.Glu374Lys)
NM_031844.3(HNRNPU):c.1120GAA[2] (p.Glu376del) rs2102987167
NM_031844.3(HNRNPU):c.1122del (p.Glu375fs)
NM_031844.3(HNRNPU):c.1126G>A (p.Glu376Lys)
NM_031844.3(HNRNPU):c.112C>A (p.Leu38Ile) rs2102991012
NM_031844.3(HNRNPU):c.1137T>C (p.Tyr379=)
NM_031844.3(HNRNPU):c.1137dup (p.Gly380fs) rs1553282754
NM_031844.3(HNRNPU):c.1147C>G (p.Leu383Val)
NM_031844.3(HNRNPU):c.1157dup (p.Thr388fs) rs2102987155
NM_031844.3(HNRNPU):c.1161A>G (p.Lys387=)
NM_031844.3(HNRNPU):c.1164A>G (p.Thr388=)
NM_031844.3(HNRNPU):c.1169A>C (p.Asn390Thr) rs200174361
NM_031844.3(HNRNPU):c.1169A>G (p.Asn390Ser)
NM_031844.3(HNRNPU):c.1173_1174del (p.Cys391_Glu392delinsTer)
NM_031844.3(HNRNPU):c.1179T>G (p.Thr393=)
NM_031844.3(HNRNPU):c.1186T>C (p.Tyr396His) rs1553282732
NM_031844.3(HNRNPU):c.1188T>C (p.Tyr396=) rs2102987135
NM_031844.3(HNRNPU):c.1190G>A (p.Gly397Glu)
NM_031844.3(HNRNPU):c.1193A>C (p.Glu398Ala)
NM_031844.3(HNRNPU):c.1200TGA[1] (p.Asp401del) rs1558187847
NM_031844.3(HNRNPU):c.1210G>A (p.Asp404Asn) rs2102987111
NM_031844.3(HNRNPU):c.1213G>A (p.Val405Met)
NM_031844.3(HNRNPU):c.1219A>G (p.Thr407Ala)
NM_031844.3(HNRNPU):c.1221A>G (p.Thr407=) rs1321164224
NM_031844.3(HNRNPU):c.1230+13dup
NM_031844.3(HNRNPU):c.1230+14A>G
NM_031844.3(HNRNPU):c.1230+15A>G
NM_031844.3(HNRNPU):c.1230+1G>C rs2102987091
NM_031844.3(HNRNPU):c.1230+20C>G
NM_031844.3(HNRNPU):c.1230+20C>T rs748433309
NM_031844.3(HNRNPU):c.1230+20_1230+23del
NM_031844.3(HNRNPU):c.1230+5G>A rs1553282723
NM_031844.3(HNRNPU):c.1230+8A>C rs555094041
NM_031844.3(HNRNPU):c.1230+8A>T rs555094041
NM_031844.3(HNRNPU):c.1230T>C (p.Ala410=)
NM_031844.3(HNRNPU):c.1231-10T>C
NM_031844.3(HNRNPU):c.1231-11C>T
NM_031844.3(HNRNPU):c.1231-12T>C
NM_031844.3(HNRNPU):c.1231-12dup
NM_031844.3(HNRNPU):c.1231-3C>T rs2102986793
NM_031844.3(HNRNPU):c.1231-7G>A
NM_031844.3(HNRNPU):c.1231-9G>T
NM_031844.3(HNRNPU):c.1241G>A (p.Ser414Asn)
NM_031844.3(HNRNPU):c.1244A>G (p.Asp415Gly) rs1026590819
NM_031844.3(HNRNPU):c.124C>A (p.Leu42Met) rs1364614921
NM_031844.3(HNRNPU):c.124C>T (p.Leu42=) rs1364614921
NM_031844.3(HNRNPU):c.1254A>G (p.Glu418=)
NM_031844.3(HNRNPU):c.1255C>T (p.Leu419Phe)
NM_031844.3(HNRNPU):c.1256T>C (p.Leu419Pro)
NM_031844.3(HNRNPU):c.1259C>G (p.Ser420Trp)
NM_031844.3(HNRNPU):c.1260G>A (p.Ser420=) rs201637304
NM_031844.3(HNRNPU):c.1260G>T (p.Ser420=) rs201637304
NM_031844.3(HNRNPU):c.1262A>G (p.Tyr421Cys)
NM_031844.3(HNRNPU):c.1263T>C (p.Tyr421=)
NM_031844.3(HNRNPU):c.1269G>C (p.Lys423Asn)
NM_031844.3(HNRNPU):c.1271A>G (p.Asn424Ser)
NM_031844.3(HNRNPU):c.1274G>A (p.Gly425Glu)
NM_031844.3(HNRNPU):c.127G>C (p.Asp43His)
NM_031844.3(HNRNPU):c.1282C>G (p.Leu428Val) rs1680730995
NM_031844.3(HNRNPU):c.1282C>T (p.Leu428Phe)
NM_031844.3(HNRNPU):c.1282del (p.Gly429fs) rs2102986749
NM_031844.3(HNRNPU):c.1285G>C (p.Gly429Arg)
NM_031844.3(HNRNPU):c.1298A>G (p.Lys433Arg)
NM_031844.3(HNRNPU):c.129C>T (p.Asp43=) rs2102990998
NM_031844.3(HNRNPU):c.1300A>G (p.Ile434Val)
NM_031844.3(HNRNPU):c.1301T>C (p.Ile434Thr) rs2102986726
NM_031844.3(HNRNPU):c.1302C>T (p.Ile434=)
NM_031844.3(HNRNPU):c.1303A>G (p.Ser435Gly)
NM_031844.3(HNRNPU):c.1308G>A (p.Lys436=)
NM_031844.3(HNRNPU):c.1311A>G (p.Glu437=)
NM_031844.3(HNRNPU):c.1316T>A (p.Leu439His)
NM_031844.3(HNRNPU):c.1316T>C (p.Leu439Pro)
NM_031844.3(HNRNPU):c.1319C>G (p.Ala440Gly) rs373039242
NM_031844.3(HNRNPU):c.1320_1321del (p.Gly441fs) rs2102986721
NM_031844.3(HNRNPU):c.1321G>A (p.Gly441Arg)
NM_031844.3(HNRNPU):c.1325G>A (p.Arg442Gln) rs1001439129
NM_031844.3(HNRNPU):c.1329A>G (p.Pro443=) rs777795507
NM_031844.3(HNRNPU):c.1329A>T (p.Pro443=)
NM_031844.3(HNRNPU):c.1336C>G (p.Pro446Ala) rs2102986686
NM_031844.3(HNRNPU):c.1338G>A (p.Pro446=)
NM_031844.3(HNRNPU):c.133G>C (p.Glu45Gln) rs1680938345
NM_031844.3(HNRNPU):c.1341T>C (p.His447=)
NM_031844.3(HNRNPU):c.1350C>T (p.Cys450=) rs760166337
NM_031844.3(HNRNPU):c.1353C>G (p.His451Gln)
NM_031844.3(HNRNPU):c.1362A>G (p.Ala454=)
NM_031844.3(HNRNPU):c.1365T>G (p.Val455=)
NM_031844.3(HNRNPU):c.1368A>C (p.Glu456Asp) rs1558187433
NM_031844.3(HNRNPU):c.1369T>C (p.Phe457Leu)
NM_031844.3(HNRNPU):c.1378G>A (p.Gly460Ser) rs2102986670
NM_031844.3(HNRNPU):c.137A>C (p.Glu46Ala) rs2102990989
NM_031844.3(HNRNPU):c.1385A>G (p.Lys462Arg)
NM_031844.3(HNRNPU):c.138G>T (p.Glu46Asp)
NM_031844.3(HNRNPU):c.1391A>G (p.Lys464Arg) rs1573331728
NM_031844.3(HNRNPU):c.1393C>T (p.Pro465Ser)
NM_031844.3(HNRNPU):c.1394C>G (p.Pro465Arg)
NM_031844.3(HNRNPU):c.1394C>T (p.Pro465Leu)
NM_031844.3(HNRNPU):c.13C>T (p.Pro5Ser)
NM_031844.3(HNRNPU):c.1404A>G (p.Pro468=) rs768134567
NM_031844.3(HNRNPU):c.1409C>G (p.Pro470Arg)
NM_031844.3(HNRNPU):c.1413A>G (p.Glu471=) rs1297107643
NM_031844.3(HNRNPU):c.141C>G (p.Ala47=)
NM_031844.3(HNRNPU):c.1421C>A (p.Thr474Asn) rs771909772
NM_031844.3(HNRNPU):c.1422T>G (p.Thr474=) rs886189976
NM_031844.3(HNRNPU):c.1424T>G (p.Phe475Cys) rs569338651
NM_031844.3(HNRNPU):c.1425C>T (p.Phe475=)
NM_031844.3(HNRNPU):c.1429C>T (p.Gln477Ter) rs1680727391
NM_031844.3(HNRNPU):c.1435G>A (p.Val479Ile)
NM_031844.3(HNRNPU):c.143_149del (p.Gly48fs) rs2102990974
NM_031844.3(HNRNPU):c.144G>A (p.Gly48=)
NM_031844.3(HNRNPU):c.1451G>A (p.Arg484Gln) rs2102986610
NM_031844.3(HNRNPU):c.1453G>A (p.Val485Ile)
NM_031844.3(HNRNPU):c.1463del (p.Pro488fs)
NM_031844.3(HNRNPU):c.1466del (p.Lys489fs)
NM_031844.3(HNRNPU):c.1470G>C (p.Gly490=)
NM_031844.3(HNRNPU):c.1470G>T (p.Gly490=)
NM_031844.3(HNRNPU):c.1472C>T (p.Pro491Leu)
NM_031844.3(HNRNPU):c.1473T>C (p.Pro491=)
NM_031844.3(HNRNPU):c.1477G>A (p.Glu493Lys) rs1233558404
NM_031844.3(HNRNPU):c.1487A>G (p.Asp496Gly) rs1274587234
NM_031844.3(HNRNPU):c.1491_1492dup (p.Glu498fs) rs1680725785
NM_031844.3(HNRNPU):c.1494+11_1494+12insC
NM_031844.3(HNRNPU):c.1494+19T>A rs765604666
NM_031844.3(HNRNPU):c.1494+19T>C
NM_031844.3(HNRNPU):c.1494+19_1494+21del
NM_031844.3(HNRNPU):c.1494+20_1494+21del
NM_031844.3(HNRNPU):c.1494+21del rs750413170
NM_031844.3(HNRNPU):c.1494+5G>C
NM_031844.3(HNRNPU):c.1494+7G>T rs752112910
NM_031844.3(HNRNPU):c.1494+8A>G rs766736866
NM_031844.3(HNRNPU):c.1494+8A>T
NM_031844.3(HNRNPU):c.1494+9T>C
NM_031844.3(HNRNPU):c.1495-10_1495-6del rs759862936
NM_031844.3(HNRNPU):c.1495-11C>G
NM_031844.3(HNRNPU):c.1495-16C>G
NM_031844.3(HNRNPU):c.1495-16_1495-14del rs767647451
NM_031844.3(HNRNPU):c.1495-5A>G rs2102986405
NM_031844.3(HNRNPU):c.1495-6C>T
NM_031844.3(HNRNPU):c.1500GAT[2] (p.Met502del) rs1680716624
NM_031844.3(HNRNPU):c.150C>A (p.Arg50=)
NM_031844.3(HNRNPU):c.1536C>T (p.Thr512=) rs552747149
NM_031844.3(HNRNPU):c.1539G>A (p.Trp513Ter)
NM_031844.3(HNRNPU):c.153C>T (p.Pro51=)
NM_031844.3(HNRNPU):c.1566A>G (p.Pro522=) rs1573331235
NM_031844.3(HNRNPU):c.1569G>A (p.Gly523=)
NM_031844.3(HNRNPU):c.1576A>G (p.Asn526Asp)
NM_031844.3(HNRNPU):c.1586G>C (p.Gly529Ala) rs2102986351
NM_031844.3(HNRNPU):c.1588A>G (p.Thr530Ala)
NM_031844.3(HNRNPU):c.1592A>G (p.Asn531Ser) rs1573331208
NM_031844.3(HNRNPU):c.1597A>G (p.Ile533Val)
NM_031844.3(HNRNPU):c.1612A>T (p.Met538Leu)
NM_031844.3(HNRNPU):c.1614+11T>C
NM_031844.3(HNRNPU):c.1614+15T>C
NM_031844.3(HNRNPU):c.1614+20C>T
NM_031844.3(HNRNPU):c.1614+2T>A
NM_031844.3(HNRNPU):c.1614+5G>A rs2102986339
NM_031844.3(HNRNPU):c.1615-11T>G rs1213559611
NM_031844.3(HNRNPU):c.1615-13C>T
NM_031844.3(HNRNPU):c.1615-15A>C
NM_031844.3(HNRNPU):c.1615-8G>C rs1680694709
NM_031844.3(HNRNPU):c.1639del (p.Ala547fs)
NM_031844.3(HNRNPU):c.163C>T (p.Pro55Ser)
NM_031844.3(HNRNPU):c.1642G>A (p.Asp548Asn) rs1553282397
NM_031844.3(HNRNPU):c.1647T>C (p.Thr549=)
NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) rs1680691597
NM_031844.3(HNRNPU):c.1665_1666del (p.Leu556fs) rs2102985889
NM_031844.3(HNRNPU):c.1680C>G (p.Pro560=)
NM_031844.3(HNRNPU):c.1680C>T (p.Pro560=)
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) rs1573330458
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) rs1135401794
NM_031844.3(HNRNPU):c.1710T>C (p.Ala570=) rs1553282382
NM_031844.3(HNRNPU):c.1716A>G (p.Arg572=)
NM_031844.3(HNRNPU):c.1717AAG[1] (p.Lys574del)
NM_031844.3(HNRNPU):c.1722G>A (p.Lys574=)
NM_031844.3(HNRNPU):c.1723C>A (p.Arg575=)
NM_031844.3(HNRNPU):c.1723C>T (p.Arg575Ter)
NM_031844.3(HNRNPU):c.172G>C (p.Gly58Arg)
NM_031844.3(HNRNPU):c.1743+17A>C
NM_031844.3(HNRNPU):c.1743+1G>A rs2102985855
NM_031844.3(HNRNPU):c.1743+20T>A rs1449168514
NM_031844.3(HNRNPU):c.1743+20T>C
NM_031844.3(HNRNPU):c.1743+5G>A
NM_031844.3(HNRNPU):c.1743+8G>A rs75674611
NM_031844.3(HNRNPU):c.1744-11dup rs770379796
NM_031844.3(HNRNPU):c.1744-12C>T
NM_031844.3(HNRNPU):c.1744-13del
NM_031844.3(HNRNPU):c.1744-17A>C
NM_031844.3(HNRNPU):c.1744-17A>T
NM_031844.3(HNRNPU):c.1744-19_1744-18del
NM_031844.3(HNRNPU):c.1744-20A>C
NM_031844.3(HNRNPU):c.1744-4A>G rs1242693487
NM_031844.3(HNRNPU):c.1744-4A>T rs1242693487
NM_031844.3(HNRNPU):c.1746A>C (p.Thr582=)
NM_031844.3(HNRNPU):c.1749del (p.Asn583fs)
NM_031844.3(HNRNPU):c.174C>T (p.Gly58=)
NM_031844.3(HNRNPU):c.1764C>A (p.Ala588=)
NM_031844.3(HNRNPU):c.1765del (p.Gln589fs)
NM_031844.3(HNRNPU):c.1767G>C (p.Gln589His)
NM_031844.3(HNRNPU):c.176G>A (p.Ser59Asn)
NM_031844.3(HNRNPU):c.1770G>A (p.Arg590=) rs1573330255
NM_031844.3(HNRNPU):c.177C>T (p.Ser59=) rs911651898
NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs)
NM_031844.3(HNRNPU):c.1785G>A (p.Leu595=) rs973383008
NM_031844.3(HNRNPU):c.178C>T (p.Leu60=) rs747828993
NM_031844.3(HNRNPU):c.1803A>T (p.Arg601=) rs1573330232
NM_031844.3(HNRNPU):c.1807G>A (p.Ala603Thr)
NM_031844.3(HNRNPU):c.1810G>A (p.Val604Ile)
NM_031844.3(HNRNPU):c.1812dup (p.Val605fs) rs1057524916
NM_031844.3(HNRNPU):c.181G>A (p.Asp61Asn)
NM_031844.3(HNRNPU):c.1825A>G (p.Lys609Glu) rs1680685512
NM_031844.3(HNRNPU):c.182A>G (p.Asp61Gly) rs1317607352
NM_031844.3(HNRNPU):c.1832A>G (p.Glu611Gly)
NM_031844.3(HNRNPU):c.1842G>A (p.Lys614=)
NM_031844.3(HNRNPU):c.184C>G (p.Leu62Val)
NM_031844.3(HNRNPU):c.1856A>G (p.Lys619Arg)
NM_031844.3(HNRNPU):c.1867G>T (p.Val623Leu) rs759569722
NM_031844.3(HNRNPU):c.1869A>G (p.Val623=) rs2102985697
NM_031844.3(HNRNPU):c.186G>A (p.Leu62=) rs1680935711
NM_031844.3(HNRNPU):c.1875G>A (p.Gly625=)
NM_031844.3(HNRNPU):c.1878A>G (p.Lys626=)
NM_031844.3(HNRNPU):c.1884A>G (p.Leu628=) rs2102985689
NM_031844.3(HNRNPU):c.1899C>G (p.Val633=)
NM_031844.3(HNRNPU):c.1899C>T (p.Val633=)
NM_031844.3(HNRNPU):c.189C>T (p.Gly63=)
NM_031844.3(HNRNPU):c.1905_1906del (p.Lys635fs) rs2102985675
NM_031844.3(HNRNPU):c.190G>A (p.Gly64Arg)
NM_031844.3(HNRNPU):c.1912+10T>G
NM_031844.3(HNRNPU):c.1912+12T>A
NM_031844.3(HNRNPU):c.1912+17C>A
NM_031844.3(HNRNPU):c.1912+9T>G
NM_031844.3(HNRNPU):c.1913-13_1913-12del
NM_031844.3(HNRNPU):c.1913-3C>T
NM_031844.3(HNRNPU):c.1913-4G>A
NM_031844.3(HNRNPU):c.1913-9T>C
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) rs1553284007
NM_031844.3(HNRNPU):c.1920T>C (p.Phe640=)
NM_031844.3(HNRNPU):c.1922C>G (p.Thr641Ser) rs745323844
NM_031844.3(HNRNPU):c.1926C>G (p.Leu642=)
NM_031844.3(HNRNPU):c.1929A>C (p.Pro643=) rs1445734357
NM_031844.3(HNRNPU):c.1933G>A (p.Val645Ile)
NM_031844.3(HNRNPU):c.1934T>A (p.Val645Glu) rs2102985465
NM_031844.3(HNRNPU):c.1940A>G (p.Glu647Gly) rs1680674233
NM_031844.3(HNRNPU):c.1944C>T (p.Cys648=) rs895356669
NM_031844.3(HNRNPU):c.1958C>G (p.Thr653Ser)
NM_031844.3(HNRNPU):c.1962T>C (p.Tyr654=)
NM_031844.3(HNRNPU):c.197C>T (p.Ser66Phe)
NM_031844.3(HNRNPU):c.1986C>T (p.Ala662=) rs1278714852
NM_031844.3(HNRNPU):c.1995C>A (p.Leu665=)
NM_031844.3(HNRNPU):c.1A>C (p.Met1Leu)
NM_031844.3(HNRNPU):c.2006dup (p.Tyr669Ter) rs2102985419
NM_031844.3(HNRNPU):c.2008A>G (p.Lys670Glu)
NM_031844.3(HNRNPU):c.2025G>A (p.Lys675=)
NM_031844.3(HNRNPU):c.2037A>G (p.Pro679=)
NM_031844.3(HNRNPU):c.2043G>A (p.Lys681=) rs1573329677
NM_031844.3(HNRNPU):c.2051A>T (p.Asn684Ile)
NM_031844.3(HNRNPU):c.2053A>G (p.Thr685Ala) rs2102985384
NM_031844.3(HNRNPU):c.2059T>A (p.Ser687Thr)
NM_031844.3(HNRNPU):c.2059T>C (p.Ser687Pro) rs2102985380
NM_031844.3(HNRNPU):c.2072A>C (p.Asn691Thr)
NM_031844.3(HNRNPU):c.2072del (p.Asn691fs)
NM_031844.3(HNRNPU):c.207C>T (p.Arg69=)
NM_031844.3(HNRNPU):c.2086G>A (p.Gly696Ser)
NM_031844.3(HNRNPU):c.2105G>C (p.Arg702Thr)
NM_031844.3(HNRNPU):c.2111G>A (p.Gly704Asp) rs1680668703
NM_031844.3(HNRNPU):c.2118T>C (p.His706=) rs1553282227
NM_031844.3(HNRNPU):c.211G>C (p.Gly71Arg) rs1680934795
NM_031844.3(HNRNPU):c.2122_2124dup (p.Gly708dup) rs2102985341
NM_031844.3(HNRNPU):c.2123G>T (p.Gly708Val)
NM_031844.3(HNRNPU):c.2126G>A (p.Arg709His)
NM_031844.3(HNRNPU):c.2127T>G (p.Arg709=)
NM_031844.3(HNRNPU):c.2129G>A (p.Gly710Glu)
NM_031844.3(HNRNPU):c.212G>T (p.Gly71Val)
NM_031844.3(HNRNPU):c.2139T>C (p.Asn713=)
NM_031844.3(HNRNPU):c.2142G>T (p.Met714Ile)
NM_031844.3(HNRNPU):c.2144G>A (p.Arg715His)
NM_031844.3(HNRNPU):c.2145T>A (p.Arg715=)
NM_031844.3(HNRNPU):c.2148T>C (p.Gly716=)
NM_031844.3(HNRNPU):c.2149G>A (p.Gly717Arg) rs2102985318
NM_031844.3(HNRNPU):c.2155T>G (p.Phe719Val)
NM_031844.3(HNRNPU):c.2160A>G (p.Arg720=)
NM_031844.3(HNRNPU):c.2164_2165dup (p.Ala723fs) rs1680667014
NM_031844.3(HNRNPU):c.2167+16G>A
NM_031844.3(HNRNPU):c.2167+20T>G
NM_031844.3(HNRNPU):c.2167+8A>G
NM_031844.3(HNRNPU):c.2167+9A>G
NM_031844.3(HNRNPU):c.2167G>A (p.Ala723Thr) rs2102985303
NM_031844.3(HNRNPU):c.2168-10T>C rs2102985130
NM_031844.3(HNRNPU):c.2168-11dup rs1322267060
NM_031844.3(HNRNPU):c.2168-12C>T rs200427582
NM_031844.3(HNRNPU):c.2168-13T>A
NM_031844.3(HNRNPU):c.2168-1del rs2102985115
NM_031844.3(HNRNPU):c.2168-2_2168-1insAAAA
NM_031844.3(HNRNPU):c.2168-3dup
NM_031844.3(HNRNPU):c.2168-9G>A
NM_031844.3(HNRNPU):c.2168C>G (p.Ala723Gly) rs1680658254
NM_031844.3(HNRNPU):c.2168C>T (p.Ala723Val) rs1680658254
NM_031844.3(HNRNPU):c.2170C>T (p.Pro724Ser)
NM_031844.3(HNRNPU):c.2175G>A (p.Gly725=)
NM_031844.3(HNRNPU):c.2175del (p.Asn726fs) rs2102985099
NM_031844.3(HNRNPU):c.2177A>G (p.Asn726Ser)
NM_031844.3(HNRNPU):c.2181T>G (p.Arg727=)
NM_031844.3(HNRNPU):c.2184C>A (p.Gly728=)
NM_031844.3(HNRNPU):c.2185G>A (p.Gly729Arg)
NM_031844.3(HNRNPU):c.219C>T (p.Gly73=)
NM_031844.3(HNRNPU):c.2206A>G (p.Met736Val)
NM_031844.3(HNRNPU):c.220C>T (p.Leu74Phe)
NM_031844.3(HNRNPU):c.2210C>T (p.Pro737Leu)
NM_031844.3(HNRNPU):c.2210dup (p.Gln738fs) rs2102985060
NM_031844.3(HNRNPU):c.2220TGG[1] (p.Gly745del)
NM_031844.3(HNRNPU):c.2232_2240del (p.Ser746_Gly748del) rs1278935326
NM_031844.3(HNRNPU):c.2236A>G (p.Ser746Gly)
NM_031844.3(HNRNPU):c.2237G>T (p.Ser746Ile) rs1051595756
NM_031844.3(HNRNPU):c.223G>C (p.Glu75Gln) rs773969888
NM_031844.3(HNRNPU):c.223G>T (p.Glu75Ter) rs773969888
NM_031844.3(HNRNPU):c.2256A>G (p.Pro752=) rs1558185970
NM_031844.3(HNRNPU):c.2256_2260del (p.Tyr753fs) rs2102985018
NM_031844.3(HNRNPU):c.2260C>T (p.Pro754Ser)
NM_031844.3(HNRNPU):c.2263C>T (p.Arg755Cys) rs934976347
NM_031844.3(HNRNPU):c.2264G>A (p.Arg755His)
NM_031844.3(HNRNPU):c.2268C>T (p.Ala756=)
NM_031844.3(HNRNPU):c.226C>T (p.Gln76Ter)
NM_031844.3(HNRNPU):c.2272G>C (p.Val758Leu)
NM_031844.3(HNRNPU):c.2277dup (p.Pro760fs)
NM_031844.3(HNRNPU):c.227A>G (p.Gln76Arg)
NM_031844.3(HNRNPU):c.2283C>T (p.Gly761=)
NM_031844.3(HNRNPU):c.2291_2294dup (p.Tyr765Ter) rs2102984978
NM_031844.3(HNRNPU):c.2295C>T (p.Tyr765=)
NM_031844.3(HNRNPU):c.2295_2298del (p.Ser764_Tyr765insTer)
NM_031844.3(HNRNPU):c.2296T>G (p.Ser766Ala) rs746732226
NM_031844.3(HNRNPU):c.2299_2302del (p.Asn767fs) rs878855133
NM_031844.3(HNRNPU):c.229G>C (p.Glu77Gln) rs2102990891
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) rs794729648
NM_031844.3(HNRNPU):c.2315A>G (p.Asn772Ser)
NM_031844.3(HNRNPU):c.2320G>A (p.Gly774Ser)
NM_031844.3(HNRNPU):c.2322_2339del (p.Gly775_Gly780del) rs1385034915
NM_031844.3(HNRNPU):c.2328G>T (p.Met776Ile)
NM_031844.3(HNRNPU):c.2331C>T (p.Pro777=)
NM_031844.3(HNRNPU):c.2333A>G (p.Asn778Ser)
NM_031844.3(HNRNPU):c.2334C>T (p.Asn778=) rs1334935365
NM_031844.3(HNRNPU):c.233C>T (p.Ala78Val)
NM_031844.3(HNRNPU):c.2341A>G (p.Asn781Asp) rs377250459
NM_031844.3(HNRNPU):c.2342A>C (p.Asn781Thr)
NM_031844.3(HNRNPU):c.2347A>C (p.Asn783His)
NM_031844.3(HNRNPU):c.2347A>T (p.Asn783Tyr) rs925350951
NM_031844.3(HNRNPU):c.234C>G (p.Ala78=) rs770482398
NM_031844.3(HNRNPU):c.2352+10C>G
NM_031844.3(HNRNPU):c.2352+10C>T
NM_031844.3(HNRNPU):c.2352+17C>G
NM_031844.3(HNRNPU):c.2352+19T>C
NM_031844.3(HNRNPU):c.2353-16_2353-15delinsAG
NM_031844.3(HNRNPU):c.2353-17G>A
NM_031844.3(HNRNPU):c.2353-22AG[2] rs1558185713
NM_031844.3(HNRNPU):c.2353-7T>C rs1573328713
NM_031844.3(HNRNPU):c.2364A>T (p.Gly788=)
NM_031844.3(HNRNPU):c.2373C>T (p.Asn791=)
NM_031844.3(HNRNPU):c.2374A>C (p.Asn792His)
NM_031844.3(HNRNPU):c.2376T>G (p.Asn792Lys)
NM_031844.3(HNRNPU):c.2390A>G (p.Asn797Ser)
NM_031844.3(HNRNPU):c.2390dup (p.Asn797fs) rs2102984672
NM_031844.3(HNRNPU):c.2391T>C (p.Asn797=)
NM_031844.3(HNRNPU):c.2394A>G (p.Gln798=)
NM_031844.3(HNRNPU):c.239C>A (p.Ala80Asp)
NM_031844.3(HNRNPU):c.2402G>A (p.Gly801Asp)
NM_031844.3(HNRNPU):c.2403C>T (p.Gly801=) rs2102984661
NM_031844.3(HNRNPU):c.2404T>C (p.Tyr802His)
NM_031844.3(HNRNPU):c.2408A>G (p.Asn803Ser) rs1553282000
NM_031844.3(HNRNPU):c.240C>T (p.Ala80=)
NM_031844.3(HNRNPU):c.2421G>C (p.Gln807His) rs2102984647
NM_031844.3(HNRNPU):c.2424+11T>A
NM_031844.3(HNRNPU):c.2424+16T>G
NM_031844.3(HNRNPU):c.2425-15_2425-14del rs751856636
NM_031844.3(HNRNPU):c.2425-2A>G rs1553281924
NM_031844.3(HNRNPU):c.2425-2A>T rs1553281924
NM_031844.3(HNRNPU):c.2425-3C>A
NM_031844.3(HNRNPU):c.2451T>C (p.Ser817=)
NM_031844.3(HNRNPU):c.245del (p.Gly82fs)
NM_031844.3(HNRNPU):c.2460T>C (p.Tyr820=)
NM_031844.3(HNRNPU):c.2464C>T (p.Gln822Ter) rs542905297
NM_031844.3(HNRNPU):c.2466A>T (p.Gln822His) rs1064796325
NM_031844.3(HNRNPU):c.246C>T (p.Gly82=)
NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter) rs1057524914
NM_031844.3(HNRNPU):c.248A>G (p.Asp83Gly)
NM_031844.3(HNRNPU):c.249T>A (p.Asp83Glu)
NM_031844.3(HNRNPU):c.249_254del (p.Asp83_Glu84del)
NM_031844.3(HNRNPU):c.24A>G (p.Val8=)
NM_031844.3(HNRNPU):c.255GGA[1] (p.Glu93_Glu94del) rs772147656
NM_031844.3(HNRNPU):c.255GGA[2] (p.Glu94del) rs772147656
NM_031844.3(HNRNPU):c.255GGA[5] (p.Glu93_Glu94dup) rs772147656
NM_031844.3(HNRNPU):c.255_263del (p.Glu92_Glu94del)
NM_031844.3(HNRNPU):c.258G>A (p.Glu86=)
NM_031844.3(HNRNPU):c.261_269del (p.Glu92_Glu94del)
NM_031844.3(HNRNPU):c.264A>G (p.Glu88=)
NM_031844.3(HNRNPU):c.264AGAGGA[1] (p.Glu93_Glu94del) rs770670938
NM_031844.3(HNRNPU):c.266_283del (p.Glu89_Glu94del)
NM_031844.3(HNRNPU):c.266_283dup (p.Glu89_Glu94dup) rs1558190683
NM_031844.3(HNRNPU):c.270A>G (p.Glu90=)
NM_031844.3(HNRNPU):c.273GGA[5] (p.Glu93_Glu94dup) rs749084511
NM_031844.3(HNRNPU):c.276G>A (p.Glu92=)
NM_031844.3(HNRNPU):c.279G>A (p.Glu93=) rs1573338165
NM_031844.3(HNRNPU):c.284G>T (p.Gly95Val)
NM_031844.3(HNRNPU):c.290C>T (p.Ser97Phe) rs1479183749
NM_031844.3(HNRNPU):c.291C>T (p.Ser97=)
NM_031844.3(HNRNPU):c.295C>T (p.Leu99=)
NM_031844.3(HNRNPU):c.296T>C (p.Leu99Pro)
NM_031844.3(HNRNPU):c.301G>C (p.Gly101Arg) rs1680930955
NM_031844.3(HNRNPU):c.302G>A (p.Gly101Asp) rs1680930913
NM_031844.3(HNRNPU):c.307C>T (p.Gln103Ter) rs1553283951
NM_031844.3(HNRNPU):c.311T>A (p.Met104Lys)
NM_031844.3(HNRNPU):c.316C>G (p.Leu106Val)
NM_031844.3(HNRNPU):c.316C>T (p.Leu106=) rs778359181
NM_031844.3(HNRNPU):c.322GAG[1] (p.Glu109del)
NM_031844.3(HNRNPU):c.324G>A (p.Glu108=)
NM_031844.3(HNRNPU):c.325G>C (p.Glu109Gln)
NM_031844.3(HNRNPU):c.325G>T (p.Glu109Ter) rs1680930166
NM_031844.3(HNRNPU):c.32_35del (p.Leu11fs)
NM_031844.3(HNRNPU):c.331G>A (p.Gly111Arg)
NM_031844.3(HNRNPU):c.332G>C (p.Gly111Ala)
NM_031844.3(HNRNPU):c.334G>A (p.Ala112Thr)
NM_031844.3(HNRNPU):c.335C>A (p.Ala112Asp)
NM_031844.3(HNRNPU):c.336C>G (p.Ala112=) rs753169165
NM_031844.3(HNRNPU):c.336_351del (p.Ala113fs)
NM_031844.3(HNRNPU):c.341G>A (p.Gly114Glu)
NM_031844.3(HNRNPU):c.347C>T (p.Ala116Val) rs1680929668
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) rs1057524584
NM_031844.3(HNRNPU):c.359C>G (p.Pro120Arg) rs1455165658
NM_031844.3(HNRNPU):c.360G>A (p.Pro120=)
NM_031844.3(HNRNPU):c.361A>G (p.Met121Val) rs1388856266
NM_031844.3(HNRNPU):c.365AGG[3] (p.Glu125del) rs747108904
NM_031844.3(HNRNPU):c.365AGG[5] (p.Glu125dup) rs747108904
NM_031844.3(HNRNPU):c.36G>A (p.Lys12=)
NM_031844.3(HNRNPU):c.370G>C (p.Glu124Gln)
NM_031844.3(HNRNPU):c.374_375delinsCC (p.Glu125Ala) rs1680928684
NM_031844.3(HNRNPU):c.375G>A (p.Glu125=) rs752671029
NM_031844.3(HNRNPU):c.376G>C (p.Ala126Pro)
NM_031844.3(HNRNPU):c.378C>T (p.Ala126=)
NM_031844.3(HNRNPU):c.384G>A (p.Ser128=) rs2102990726
NM_031844.3(HNRNPU):c.389A>G (p.Asp130Gly)
NM_031844.3(HNRNPU):c.390C>T (p.Asp130=) rs200754123
NM_031844.3(HNRNPU):c.39G>C (p.Val13=)
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) rs1553283916
NM_031844.3(HNRNPU):c.403G>A (p.Asp135Asn)
NM_031844.3(HNRNPU):c.408G>A (p.Gln136=)
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter) rs1573337948
NM_031844.3(HNRNPU):c.417G>A (p.Gln139=)
NM_031844.3(HNRNPU):c.420A>C (p.Glu140Asp) rs1325726632
NM_031844.3(HNRNPU):c.421G>A (p.Gly141Arg)
NM_031844.3(HNRNPU):c.423G>T (p.Gly141=) rs777752880
NM_031844.3(HNRNPU):c.429_446del (p.Asp143_Glu148del)
NM_031844.3(HNRNPU):c.432G>A (p.Glu144=)
NM_031844.3(HNRNPU):c.435C>A (p.Leu145=)
NM_031844.3(HNRNPU):c.435C>T (p.Leu145=)
NM_031844.3(HNRNPU):c.437G>A (p.Gly146Glu)
NM_031844.3(HNRNPU):c.441C>A (p.Asp147Glu) rs539279281
NM_031844.3(HNRNPU):c.441C>G (p.Asp147Glu) rs539279281
NM_031844.3(HNRNPU):c.441C>T (p.Asp147=)
NM_031844.3(HNRNPU):c.444A>G (p.Glu148=)
NM_031844.3(HNRNPU):c.450A>C (p.Glu150Asp)
NM_031844.3(HNRNPU):c.451G>A (p.Gly151Ser)
NM_031844.3(HNRNPU):c.451G>T (p.Gly151Cys)
NM_031844.3(HNRNPU):c.455C>T (p.Ala152Val) rs1680926034
NM_031844.3(HNRNPU):c.457G>C (p.Gly153Arg) rs1680925916
NM_031844.3(HNRNPU):c.465G>T (p.Glu155Asp) rs776778115
NM_031844.3(HNRNPU):c.468C>A (p.Asn156Lys) rs1257142702
NM_031844.3(HNRNPU):c.468C>G (p.Asn156Lys)
NM_031844.3(HNRNPU):c.469G>A (p.Gly157Arg)
NM_031844.3(HNRNPU):c.469G>C (p.Gly157Arg) rs1680925526
NM_031844.3(HNRNPU):c.46C>T (p.Leu16=) rs1573338565
NM_031844.3(HNRNPU):c.470G>A (p.Gly157Glu) rs1195258707
NM_031844.3(HNRNPU):c.474C>T (p.His158=)
NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) rs1553283899
NM_031844.3(HNRNPU):c.484C>T (p.Gln162Ter)
NM_031844.3(HNRNPU):c.487C>T (p.Pro163Ser)
NM_031844.3(HNRNPU):c.489T>C (p.Pro163=) rs760562563
NM_031844.3(HNRNPU):c.490C>T (p.Gln164Ter)
NM_031844.3(HNRNPU):c.491A>C (p.Gln164Pro)
NM_031844.3(HNRNPU):c.492A>G (p.Gln164=) rs982861371
NM_031844.3(HNRNPU):c.495G>A (p.Pro165=) rs1230496425
NM_031844.3(HNRNPU):c.503C>T (p.Thr168Met)
NM_031844.3(HNRNPU):c.506A>G (p.Gln169Arg) rs1680924291
NM_031844.3(HNRNPU):c.506A>T (p.Gln169Leu)
NM_031844.3(HNRNPU):c.507G>C (p.Gln169His) rs139561508
NM_031844.3(HNRNPU):c.508C>T (p.Gln170Ter) rs2102990610
NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter) rs1057524915
NM_031844.3(HNRNPU):c.516G>C (p.Gln172His) rs1393651101
NM_031844.3(HNRNPU):c.516G>T (p.Gln172His)
NM_031844.3(HNRNPU):c.519C>G (p.Pro173=) rs1680923601
NM_031844.3(HNRNPU):c.519C>T (p.Pro173=)
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) rs886041983
NM_031844.3(HNRNPU):c.520del (p.Gln174fs) rs2102990594
NM_031844.3(HNRNPU):c.523C>A (p.Gln175Lys) rs769831589
NM_031844.3(HNRNPU):c.524A>G (p.Gln175Arg)
NM_031844.3(HNRNPU):c.527A>G (p.Gln176Arg)
NM_031844.3(HNRNPU):c.528G>C (p.Gln176His)
NM_031844.3(HNRNPU):c.531C>T (p.Arg177=)
NM_031844.3(HNRNPU):c.535G>A (p.Ala179Thr)
NM_031844.3(HNRNPU):c.535GCC[1] (p.Ala180del) rs2102990578
NM_031844.3(HNRNPU):c.538G>A (p.Ala180Thr)
NM_031844.3(HNRNPU):c.541A>G (p.Lys181Glu) rs1680922737
NM_031844.3(HNRNPU):c.542A>C (p.Lys181Thr)
NM_031844.3(HNRNPU):c.542A>G (p.Lys181Arg) rs747403316
NM_031844.3(HNRNPU):c.543G>A (p.Lys181=)
NM_031844.3(HNRNPU):c.546G>T (p.Glu182Asp)
NM_031844.3(HNRNPU):c.548C>T (p.Ala183Val) rs1680922606
NM_031844.3(HNRNPU):c.554G>A (p.Gly185Glu)
NM_031844.3(HNRNPU):c.554G>T (p.Gly185Val) rs1573337696
NM_031844.3(HNRNPU):c.557A>T (p.Lys186Met)
NM_031844.3(HNRNPU):c.55G>C (p.Glu19Gln)
NM_031844.3(HNRNPU):c.560G>C (p.Ser187Thr)
NM_031844.3(HNRNPU):c.564C>G (p.Ser188Arg) rs2102990549
NM_031844.3(HNRNPU):c.568C>G (p.Pro190Ala) rs1680921689
NM_031844.3(HNRNPU):c.570C>T (p.Pro190=)
NM_031844.3(HNRNPU):c.571A>G (p.Thr191Ala)
NM_031844.3(HNRNPU):c.573C>A (p.Thr191=)
NM_031844.3(HNRNPU):c.573C>T (p.Thr191=) rs1295513946
NM_031844.3(HNRNPU):c.575C>A (p.Ser192Ter) rs1333692140
NM_031844.3(HNRNPU):c.577C>T (p.Leu193=)
NM_031844.3(HNRNPU):c.581T>G (p.Phe194Cys)
NM_031844.3(HNRNPU):c.583G>A (p.Ala195Thr)
NM_031844.3(HNRNPU):c.584C>A (p.Ala195Glu)
NM_031844.3(HNRNPU):c.584del (p.Ala195fs)
NM_031844.3(HNRNPU):c.585G>A (p.Ala195=)
NM_031844.3(HNRNPU):c.590C>T (p.Thr197Met)
NM_031844.3(HNRNPU):c.591G>C (p.Thr197=) rs1159406089
NM_031844.3(HNRNPU):c.596C>T (p.Ala199Val) rs1680920689
NM_031844.3(HNRNPU):c.598C>G (p.Pro200Ala) rs2102990517
NM_031844.3(HNRNPU):c.599C>T (p.Pro200Leu)
NM_031844.3(HNRNPU):c.600G>A (p.Pro200=)
NM_031844.3(HNRNPU):c.601C>T (p.Pro201Ser) rs985639804
NM_031844.3(HNRNPU):c.603C>G (p.Pro201=) rs759371036
NM_031844.3(HNRNPU):c.607G>C (p.Ala203Pro)
NM_031844.3(HNRNPU):c.608C>A (p.Ala203Glu) rs769942155
NM_031844.3(HNRNPU):c.609G>A (p.Ala203=) rs1204338667
NM_031844.3(HNRNPU):c.60C>G (p.Leu20=)
NM_031844.3(HNRNPU):c.610A>G (p.Arg204Gly) rs2102990496
NM_031844.3(HNRNPU):c.614A>G (p.Gln205Arg) rs1553283825
NM_031844.3(HNRNPU):c.615G>A (p.Gln205=) rs1221660331
NM_031844.3(HNRNPU):c.618C>T (p.Gly206=)
NM_031844.3(HNRNPU):c.61A>G (p.Lys21Glu)
NM_031844.3(HNRNPU):c.621G>C (p.Gln207His) rs759528610
NM_031844.3(HNRNPU):c.621dup (p.Gln208fs)
NM_031844.3(HNRNPU):c.622C>G (p.Gln208Glu) rs1573337552
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) rs1573337552
NM_031844.3(HNRNPU):c.627G>A (p.Gln209=)
NM_031844.3(HNRNPU):c.632_649dup (p.Ala216_Glu217insGlyGlyLysLysLysAla)
NM_031844.3(HNRNPU):c.632dup (p.Gly212fs)
NM_031844.3(HNRNPU):c.634G>A (p.Gly212Ser)
NM_031844.3(HNRNPU):c.635G>C (p.Gly212Ala) rs2102990472
NM_031844.3(HNRNPU):c.637AAG[2] (p.Lys215del) rs750936227
NM_031844.3(HNRNPU):c.63G>A (p.Lys21=)
NM_031844.3(HNRNPU):c.643A>G (p.Lys215Glu)
NM_031844.3(HNRNPU):c.643_644delinsGC (p.Lys215Ala) rs1573337510
NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs)
NM_031844.3(HNRNPU):c.644A>C (p.Lys215Thr)
NM_031844.3(HNRNPU):c.649G>A (p.Glu217Lys)
NM_031844.3(HNRNPU):c.650_656del (p.Glu217fs)
NM_031844.3(HNRNPU):c.651AGGCGGCGG[1] (p.Gly221_Gly223del) rs757585114
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) rs779453109
NM_031844.3(HNRNPU):c.652G>A (p.Gly218Ser)
NM_031844.3(HNRNPU):c.657C>T (p.Gly219=)
NM_031844.3(HNRNPU):c.665G>T (p.Gly222Val)
NM_031844.3(HNRNPU):c.666C>T (p.Gly222=)
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_031844.3(HNRNPU):c.669_691dup (p.Gly231fs) rs754216321
NM_031844.3(HNRNPU):c.674C>G (p.Pro225Arg) rs1429007292
NM_031844.3(HNRNPU):c.675C>T (p.Pro225=)
NM_031844.3(HNRNPU):c.679G>T (p.Ala227Ser) rs1680916587
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) rs869312701
NM_031844.3(HNRNPU):c.685G>C (p.Ala229Pro) rs2102990410
NM_031844.3(HNRNPU):c.687G>A (p.Ala229=)
NM_031844.3(HNRNPU):c.688G>C (p.Ala230Pro)
NM_031844.3(HNRNPU):c.692-13G>A
NM_031844.3(HNRNPU):c.692-13G>T
NM_031844.3(HNRNPU):c.692-17G>A
NM_031844.3(HNRNPU):c.692-3T>C rs760130988
NM_031844.3(HNRNPU):c.705A>G (p.Thr235=) rs2102989500
NM_031844.3(HNRNPU):c.706_707del (p.Glu236fs)
NM_031844.3(HNRNPU):c.70C>A (p.Arg24Ser) rs2102991038
NM_031844.3(HNRNPU):c.70C>T (p.Arg24Cys)
NM_031844.3(HNRNPU):c.729G>A (p.Lys243=)
NM_031844.3(HNRNPU):c.72C>T (p.Arg24=)
NM_031844.3(HNRNPU):c.730_731del (p.Arg244fs) rs2102989487
NM_031844.3(HNRNPU):c.731G>A (p.Arg244Lys)
NM_031844.3(HNRNPU):c.734G>T (p.Gly245Val)
NM_031844.3(HNRNPU):c.734_738dup (p.Lys247fs)
NM_031844.3(HNRNPU):c.738T>A (p.Val246=)
NM_031844.3(HNRNPU):c.747A>C (p.Pro249=)
NM_031844.3(HNRNPU):c.747A>G (p.Pro249=)
NM_031844.3(HNRNPU):c.754G>T (p.Asp252Tyr) rs1680869300
NM_031844.3(HNRNPU):c.794dup (p.Tyr266fs)
NM_031844.3(HNRNPU):c.79del (p.Asp27fs)
NM_031844.3(HNRNPU):c.803+14A>C
NM_031844.3(HNRNPU):c.803+14A>G
NM_031844.3(HNRNPU):c.803+15C>T
NM_031844.3(HNRNPU):c.803+16C>A rs1344199750
NM_031844.3(HNRNPU):c.803+16C>T
NM_031844.3(HNRNPU):c.803+17T>A
NM_031844.3(HNRNPU):c.803+18A>G
NM_031844.3(HNRNPU):c.803+2T>C rs112081356
NM_031844.3(HNRNPU):c.803+4_803+6dup
NM_031844.3(HNRNPU):c.803+7G>A
NM_031844.3(HNRNPU):c.804-11C>T
NM_031844.3(HNRNPU):c.804-11_804-10del
NM_031844.3(HNRNPU):c.804-14dup
NM_031844.3(HNRNPU):c.804-16C>G
NM_031844.3(HNRNPU):c.804-17dup
NM_031844.3(HNRNPU):c.804-20G>A
NM_031844.3(HNRNPU):c.804-3C>T rs1558189513
NM_031844.3(HNRNPU):c.804-9_804-6del rs2102989400
NM_031844.3(HNRNPU):c.804-9_804-8del rs2102989406
NM_031844.3(HNRNPU):c.81C>A (p.Asp27Glu)
NM_031844.3(HNRNPU):c.81_82del (p.Asp27fs)
NM_031844.3(HNRNPU):c.831AGA[2] (p.Glu279del) rs747301226
NM_031844.3(HNRNPU):c.838G>A (p.Asp280Asn)
NM_031844.3(HNRNPU):c.839A>G (p.Asp280Gly) rs1168497628
NM_031844.3(HNRNPU):c.849C>T (p.Phe283=) rs200804217
NM_031844.3(HNRNPU):c.855C>T (p.Asp285=)
NM_031844.3(HNRNPU):c.857_858del (p.Thr286fs) rs2102989374
NM_031844.3(HNRNPU):c.861G>C (p.Val287=)
NM_031844.3(HNRNPU):c.868C>T (p.Leu290Phe)
NM_031844.3(HNRNPU):c.870T>G (p.Leu290=)
NM_031844.3(HNRNPU):c.877+10G>A
NM_031844.3(HNRNPU):c.877+12T>G rs1295049956
NM_031844.3(HNRNPU):c.877+13G>T
NM_031844.3(HNRNPU):c.877+16dup rs745911562
NM_031844.3(HNRNPU):c.877+19C>T
NM_031844.3(HNRNPU):c.877+9A>G
NM_031844.3(HNRNPU):c.878-12A>G
NM_031844.3(HNRNPU):c.878-12A>T
NM_031844.3(HNRNPU):c.878-13G>A rs115293649
NM_031844.3(HNRNPU):c.878-13G>T rs115293649
NM_031844.3(HNRNPU):c.878-18T>C
NM_031844.3(HNRNPU):c.878-21_878-20del
NM_031844.3(HNRNPU):c.878-3C>T rs1680796982
NM_031844.3(HNRNPU):c.878-5T>G rs2102988100
NM_031844.3(HNRNPU):c.878-8_878-6del
NM_031844.3(HNRNPU):c.878-9T>C rs573967558
NM_031844.3(HNRNPU):c.891A>G (p.Leu297=) rs1246066090
NM_031844.3(HNRNPU):c.89_179del (p.Leu30fs)
NM_031844.3(HNRNPU):c.8C>G (p.Ser3Cys)
NM_031844.3(HNRNPU):c.906_907del (p.Asp304fs)
NM_031844.3(HNRNPU):c.908G>T (p.Arg303Ile) rs1573333876
NM_031844.3(HNRNPU):c.913C>G (p.Arg305Gly)
NM_031844.3(HNRNPU):c.914G>A (p.Arg305His) rs756460435
NM_031844.3(HNRNPU):c.916C>T (p.Leu306Phe) rs1447036653
NM_031844.3(HNRNPU):c.927T>C (p.Ser309=) rs2102988078
NM_031844.3(HNRNPU):c.933T>A (p.Leu311=)
NM_031844.3(HNRNPU):c.943_944dup (p.Ser315fs)
NM_031844.3(HNRNPU):c.944G>C (p.Ser315Thr)
NM_031844.3(HNRNPU):c.954T>C (p.Phe318=)
NM_031844.3(HNRNPU):c.963T>G (p.Ala321=)
NM_031844.3(HNRNPU):c.966A>C (p.Gly322=)
NM_031844.3(HNRNPU):c.96C>G (p.Ala32=)
NM_031844.3(HNRNPU):c.998_999del (p.Lys333fs)
NM_031844.3(HNRNPU):c.9C>G (p.Ser3=) rs886231659
Single allele

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