NM_138691.3(TMC1):c.*183A>G
|
rs71507808
|
0.02514
|
NM_138691.3(TMC1):c.*106G>C
|
rs79830675
|
0.01140
|
NM_138691.3(TMC1):c.*28A>C
|
rs151157872
|
0.00779
|
NM_138691.3(TMC1):c.-275G>A
|
rs58824091
|
0.00773
|
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp)
|
rs11143384
|
0.00691
|
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)
|
rs113342704
|
0.00073
|
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe)
|
rs41310067
|
0.00070
|
NM_138691.3(TMC1):c.*93C>T
|
rs184207177
|
0.00061
|
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu)
|
rs140388347
|
0.00061
|
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys)
|
rs140437301
|
0.00036
|
NM_138691.3(TMC1):c.1705A>G (p.Thr569Ala)
|
rs148971770
|
0.00029
|
NM_138691.3(TMC1):c.-252C>T
|
rs541857536
|
0.00021
|
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser)
|
rs200831684
|
0.00021
|
NM_138691.3(TMC1):c.-124T>C
|
rs533837914
|
0.00020
|
NM_138691.3(TMC1):c.2070G>A (p.Ala690=)
|
rs145757452
|
0.00017
|
NM_138691.3(TMC1):c.448G>A (p.Ala150Thr)
|
rs534560340
|
0.00016
|
NM_138691.3(TMC1):c.1608C>T (p.Tyr536=)
|
rs552170649
|
0.00013
|
NM_138691.3(TMC1):c.795A>C (p.Thr265=)
|
rs140398130
|
0.00013
|
NM_138691.3(TMC1):c.473G>A (p.Arg158His)
|
rs148340276
|
0.00012
|
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu)
|
rs149947445
|
0.00011
|
NM_138691.3(TMC1):c.2177C>T (p.Ala726Val)
|
rs573874378
|
0.00011
|
NM_138691.3(TMC1):c.1030-3C>T
|
rs370872111
|
0.00010
|
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile)
|
rs150206751
|
0.00010
|
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter)
|
rs150738413
|
0.00010
|
NM_138691.3(TMC1):c.2254C>T (p.Arg752Ter)
|
rs149506642
|
0.00010
|
NM_138691.3(TMC1):c.1846G>A (p.Val616Ile)
|
rs376422017
|
0.00009
|
NM_138691.3(TMC1):c.760G>A (p.Val254Ile)
|
rs111033497
|
0.00009
|
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr)
|
rs201955337
|
0.00008
|
NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser)
|
rs139102393
|
0.00008
|
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys)
|
rs746724027
|
0.00008
|
NM_138691.3(TMC1):c.1263A>G (p.Pro421=)
|
rs139985214
|
0.00007
|
NM_138691.3(TMC1):c.-220C>T
|
rs1057515621
|
0.00006
|
NM_138691.3(TMC1):c.1114G>A (p.Val372Met)
|
rs367924428
|
0.00006
|
NM_138691.3(TMC1):c.1301A>C (p.His434Pro)
|
rs375264737
|
0.00006
|
NM_138691.3(TMC1):c.1966G>A (p.Val656Met)
|
rs144147585
|
0.00006
|
NM_138691.3(TMC1):c.339G>A (p.Met113Ile)
|
rs397517840
|
0.00006
|
NM_138691.3(TMC1):c.472C>T (p.Arg158Cys)
|
rs200841002
|
0.00006
|
NM_138691.3(TMC1):c.928A>G (p.Thr310Ala)
|
rs144501871
|
0.00006
|
NM_138691.3(TMC1):c.*156T>C
|
rs545955592
|
0.00005
|
NM_138691.3(TMC1):c.-481T>C
|
rs757908231
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys)
|
rs369890353
|
0.00005
|
NM_138691.3(TMC1):c.59G>C (p.Ser20Thr)
|
rs189479995
|
0.00005
|
NM_138691.3(TMC1):c.885-11T>C
|
rs768694342
|
0.00005
|
NM_138691.3(TMC1):c.*302A>G
|
rs1055361532
|
0.00004
|
NM_138691.3(TMC1):c.1567-14T>G
|
rs727503485
|
0.00004
|
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp)
|
rs764992976
|
0.00004
|
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser)
|
rs142629075
|
0.00004
|
NM_138691.3(TMC1):c.*26G>C
|
rs191962062
|
0.00003
|
NM_138691.3(TMC1):c.-385G>A
|
rs939516320
|
0.00003
|
NM_138691.3(TMC1):c.1018A>G (p.Met340Val)
|
rs771281791
|
0.00003
|
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn)
|
rs749491943
|
0.00003
|
NM_138691.3(TMC1):c.1387G>A (p.Asp463Asn)
|
rs758352261
|
0.00003
|
NM_138691.3(TMC1):c.2192A>G (p.Lys731Arg)
|
rs775993082
|
0.00003
|
NM_138691.3(TMC1):c.627C>T (p.Leu209=)
|
rs748580616
|
0.00003
|
NM_138691.3(TMC1):c.791G>A (p.Arg264Gln)
|
rs147147941
|
0.00003
|
NM_138691.3(TMC1):c.910G>A (p.Gly304Arg)
|
rs1008565149
|
0.00003
|
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys)
|
rs148443938
|
0.00003
|
NM_138691.3(TMC1):c.-295A>T
|
rs1391656977
|
0.00002
|
NM_138691.3(TMC1):c.-350C>T
|
rs1022291966
|
0.00002
|
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser)
|
rs397517834
|
0.00002
|
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr)
|
rs745495139
|
0.00002
|
NM_138691.3(TMC1):c.1404+4A>G
|
rs727503484
|
0.00002
|
NM_138691.3(TMC1):c.1584A>G (p.Thr528=)
|
rs762248733
|
0.00002
|
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys)
|
rs142073640
|
0.00002
|
NM_138691.3(TMC1):c.2276G>A (p.Arg759His)
|
rs765191961
|
0.00002
|
NM_138691.3(TMC1):c.624C>A (p.Ser208Arg)
|
rs781747541
|
0.00002
|
NM_138691.3(TMC1):c.697G>A (p.Glu233Lys)
|
rs373537563
|
0.00002
|
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu)
|
rs755694066
|
0.00002
|
NM_138691.3(TMC1):c.*51G>A
|
rs771430357
|
0.00001
|
NM_138691.3(TMC1):c.1010C>A (p.Ser337Tyr)
|
rs376305043
|
0.00001
|
NM_138691.3(TMC1):c.1029+3A>G
|
rs1588083737
|
0.00001
|
NM_138691.3(TMC1):c.1111T>C (p.Phe371Leu)
|
rs758739636
|
0.00001
|
NM_138691.3(TMC1):c.1189G>A (p.Asp397Asn)
|
rs185702148
|
0.00001
|
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile)
|
rs184603559
|
0.00001
|
NM_138691.3(TMC1):c.1334G>A (p.Arg445His)
|
rs760532554
|
0.00001
|
NM_138691.3(TMC1):c.1471A>T (p.Asn491Tyr)
|
rs887241990
|
0.00001
|
NM_138691.3(TMC1):c.1594G>A (p.Val532Ile)
|
rs759289124
|
0.00001
|
NM_138691.3(TMC1):c.1660A>T (p.Asn554Tyr)
|
rs776624164
|
0.00001
|
NM_138691.3(TMC1):c.1735G>A (p.Ala579Thr)
|
rs1250257217
|
0.00001
|
NM_138691.3(TMC1):c.2044G>C (p.Glu682Gln)
|
rs199819595
|
0.00001
|
NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr)
|
rs397517838
|
0.00001
|
NM_138691.3(TMC1):c.237-5T>A
|
rs1057515622
|
0.00001
|
NM_138691.3(TMC1):c.534A>T (p.Glu178Asp)
|
rs886042321
|
0.00001
|
NM_138691.3(TMC1):c.543T>G (p.Phe181Leu)
|
rs989635871
|
0.00001
|
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser)
|
rs756960425
|
0.00001
|
NM_138691.3(TMC1):c.603T>G (p.Val201=)
|
rs372449375
|
0.00001
|
NM_138691.3(TMC1):c.637C>T (p.Pro213Ser)
|
rs745569653
|
0.00001
|
NM_138691.3(TMC1):c.64A>G (p.Ser22Gly)
|
rs144387828
|
0.00001
|
NM_138691.3(TMC1):c.656T>C (p.Leu219Ser)
|
rs749608265
|
0.00001
|
NM_138691.3(TMC1):c.707C>T (p.Ser236Leu)
|
rs751873680
|
0.00001
|
NM_138691.3(TMC1):c.830A>G (p.Tyr277Cys)
|
rs774299359
|
0.00001
|
NM_138691.3(TMC1):c.884+2dup
|
rs876658020
|
0.00001
|
NM_138691.3(TMC1):c.976G>A (p.Gly326Ser)
|
rs1481117336
|
0.00001
|
GRCh37/hg19 9q21.13(chr9:75028573-75163613)x1
|
|
|
GRCh37/hg19 9q21.13(chr9:75425828-75464591)x1
|
|
|
NM_138691.3(TMC1):c.*10T>C
|
rs1829120621
|
|
NM_138691.3(TMC1):c.-442T>G
|
rs1823318883
|
|
NM_138691.3(TMC1):c.1015A>C (p.Thr339Pro)
|
|
|
NM_138691.3(TMC1):c.1022A>C (p.Asn341Thr)
|
rs727504568
|
|
NM_138691.3(TMC1):c.1100T>G (p.Leu367Arg)
|
|
|
NM_138691.3(TMC1):c.1113C>A (p.Phe371Leu)
|
rs762332645
|
|
NM_138691.3(TMC1):c.1198A>T (p.Thr400Ser)
|
|
|
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile)
|
rs1271495869
|
|
NM_138691.3(TMC1):c.1224+5G>A
|
rs397517835
|
|
NM_138691.3(TMC1):c.1252A>G (p.Met418Val)
|
|
|
NM_138691.3(TMC1):c.1252A>T (p.Met418Leu)
|
rs775453038
|
|
NM_138691.3(TMC1):c.1256T>C (p.Phe419Ser)
|
|
|
NM_138691.3(TMC1):c.1265C>A (p.Thr422Lys)
|
rs868082421
|
|
NM_138691.3(TMC1):c.1295A>C (p.Asp432Ala)
|
|
|
NM_138691.3(TMC1):c.1309A>G (p.Ile437Val)
|
|
|
NM_138691.3(TMC1):c.1312G>T (p.Ala438Ser)
|
rs745495139
|
|
NM_138691.3(TMC1):c.1343C>G (p.Ala448Gly)
|
|
|
NM_138691.3(TMC1):c.1358A>G (p.Asn453Ser)
|
|
|
NM_138691.3(TMC1):c.1369T>C (p.Phe457Leu)
|
rs397517836
|
|
NM_138691.3(TMC1):c.1375C>T (p.Leu459Phe)
|
|
|
NM_138691.3(TMC1):c.1389T>A (p.Asp463Glu)
|
|
|
NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln)
|
rs993650641
|
|
NM_138691.3(TMC1):c.1444T>C (p.Trp482Arg)
|
|
|
NM_138691.3(TMC1):c.1449A>C (p.Glu483Asp)
|
rs1554728060
|
|
NM_138691.3(TMC1):c.1487A>G (p.Glu496Gly)
|
rs2118194034
|
|
NM_138691.3(TMC1):c.1532C>A (p.Pro511His)
|
rs727503483
|
|
NM_138691.3(TMC1):c.1535G>A (p.Arg512Gln)
|
|
|
NM_138691.3(TMC1):c.1537G>A (p.Gly513Arg)
|
rs2118194289
|
|
NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp)
|
rs2118194338
|
|
NM_138691.3(TMC1):c.1588T>C (p.Ser530Pro)
|
rs750746559
|
|
NM_138691.3(TMC1):c.1607A>G (p.Tyr536Cys)
|
|
|
NM_138691.3(TMC1):c.1663T>G (p.Tyr555Asp)
|
|
|
NM_138691.3(TMC1):c.1670G>C (p.Trp557Ser)
|
|
|
NM_138691.3(TMC1):c.1688A>G (p.Tyr563Cys)
|
rs2118239557
|
|
NM_138691.3(TMC1):c.1696C>T (p.Pro566Ser)
|
|
|
NM_138691.3(TMC1):c.1751A>G (p.Gln584Arg)
|
|
|
NM_138691.3(TMC1):c.1762T>C (p.Trp588Arg)
|
|
|
NM_138691.3(TMC1):c.1765A>G (p.Met589Val)
|
rs2118298286
|
|
NM_138691.3(TMC1):c.1769G>T (p.Gly590Val)
|
rs1397306960
|
|
NM_138691.3(TMC1):c.1795G>A (p.Gly599Ser)
|
|
|
NM_138691.3(TMC1):c.1796G>A (p.Gly599Asp)
|
rs727503486
|
|
NM_138691.3(TMC1):c.1798A>G (p.Ile600Val)
|
rs202144745
|
|
NM_138691.3(TMC1):c.1799T>G (p.Ile600Ser)
|
rs2118298452
|
|
NM_138691.3(TMC1):c.1805T>G (p.Ile602Ser)
|
|
|
NM_138691.3(TMC1):c.1849A>T (p.Met617Leu)
|
|
|
NM_138691.3(TMC1):c.1874G>C (p.Arg625Thr)
|
rs762417969
|
|
NM_138691.3(TMC1):c.1876G>A (p.Val626Ile)
|
|
|
NM_138691.3(TMC1):c.1902C>G (p.Asn634Lys)
|
rs767285617
|
|
NM_138691.3(TMC1):c.1946T>C (p.Met649Thr)
|
|
|
NM_138691.3(TMC1):c.1951G>T (p.Val651Phe)
|
|
|
NM_138691.3(TMC1):c.1975C>A (p.Pro659Thr)
|
rs2118299337
|
|
NM_138691.3(TMC1):c.1988A>G (p.Asp663Gly)
|
rs397517837
|
|
NM_138691.3(TMC1):c.1992T>G (p.Cys664Trp)
|
rs727503487
|
|
NM_138691.3(TMC1):c.2002A>C (p.Ser668Arg)
|
|
|
NM_138691.3(TMC1):c.2004T>G (p.Ser668Arg)
|
rs1181901214
|
|
NM_138691.3(TMC1):c.2011A>G (p.Asn671Asp)
|
rs1828964954
|
|
NM_138691.3(TMC1):c.2014A>G (p.Arg672Gly)
|
rs1164767371
|
|
NM_138691.3(TMC1):c.2050G>A (p.Asp684Asn)
|
rs563322370
|
|
NM_138691.3(TMC1):c.2130-4T>C
|
|
|
NM_138691.3(TMC1):c.2134G>T (p.Ala712Ser)
|
|
|
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn)
|
rs1588105861
|
|
NM_138691.3(TMC1):c.2163G>T (p.Lys721Asn)
|
|
|
NM_138691.3(TMC1):c.2201T>C (p.Met734Thr)
|
|
|
NM_138691.3(TMC1):c.2204A>C (p.Lys735Thr)
|
rs1057515624
|
|
NM_138691.3(TMC1):c.2219del (p.Glu740fs)
|
|
|
NM_138691.3(TMC1):c.2231G>A (p.Arg744Gln)
|
|
|
NM_138691.3(TMC1):c.2237A>G (p.Lys746Arg)
|
|
|
NM_138691.3(TMC1):c.2242A>G (p.Met748Val)
|
|
|
NM_138691.3(TMC1):c.2249C>A (p.Ala750Asp)
|
rs1829026565
|
|
NM_138691.3(TMC1):c.2260+5G>A
|
|
|
NM_138691.3(TMC1):c.2261-15_2261-14del
|
rs777589679
|
|
NM_138691.3(TMC1):c.2261-1G>A
|
|
|
NM_138691.3(TMC1):c.236C>A (p.Ala79Glu)
|
rs140482278
|
|
NM_138691.3(TMC1):c.236C>T (p.Ala79Val)
|
|
|
NM_138691.3(TMC1):c.257A>G (p.Glu86Gly)
|
|
|
NM_138691.3(TMC1):c.265T>C (p.Leu89=)
|
rs886043585
|
|
NM_138691.3(TMC1):c.331T>C (p.Trp111Arg)
|
|
|
NM_138691.3(TMC1):c.345G>C (p.Lys115Asn)
|
|
|
NM_138691.3(TMC1):c.35A>G (p.Glu12Gly)
|
rs2132183942
|
|
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln)
|
rs377607548
|
|
NM_138691.3(TMC1):c.379G>A (p.Val127Met)
|
|
|
NM_138691.3(TMC1):c.382A>G (p.Ser128Gly)
|
|
|
NM_138691.3(TMC1):c.403G>A (p.Gly135Arg)
|
rs397517841
|
|
NM_138691.3(TMC1):c.422G>A (p.Arg141Gln)
|
|
|
NM_138691.3(TMC1):c.451A>C (p.Lys151Gln)
|
|
|
NM_138691.3(TMC1):c.464A>C (p.Lys155Thr)
|
|
|
NM_138691.3(TMC1):c.505C>G (p.Pro169Ala)
|
rs1827407033
|
|
NM_138691.3(TMC1):c.532G>A (p.Glu178Lys)
|
rs1588060117
|
|
NM_138691.3(TMC1):c.537T>G (p.Ser179Arg)
|
|
|
NM_138691.3(TMC1):c.545G>T (p.Gly182Val)
|
rs199560971
|
|
NM_138691.3(TMC1):c.557C>G (p.Ala186Gly)
|
rs727504470
|
|
NM_138691.3(TMC1):c.586T>A (p.Tyr196Asn)
|
|
|
NM_138691.3(TMC1):c.587A>G (p.Tyr196Cys)
|
|
|
NM_138691.3(TMC1):c.592del (p.Val198fs)
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rs1564530932
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NM_138691.3(TMC1):c.596A>T (p.Asn199Ile)
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rs756960425
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NM_138691.3(TMC1):c.617C>T (p.Thr206Ile)
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NM_138691.3(TMC1):c.619T>A (p.Phe207Ile)
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NM_138691.3(TMC1):c.628A>G (p.Ile210Val)
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NM_138691.3(TMC1):c.642+4A>C
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rs2118056443
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NM_138691.3(TMC1):c.65-10C>T
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rs576970134
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NM_138691.3(TMC1):c.676A>G (p.Arg226Gly)
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NM_138691.3(TMC1):c.685G>A (p.Val229Ile)
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NM_138691.3(TMC1):c.688C>T (p.Pro230Ser)
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rs2118067302
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NM_138691.3(TMC1):c.761T>C (p.Val254Ala)
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NM_138691.3(TMC1):c.791G>C (p.Arg264Pro)
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rs147147941
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NM_138691.3(TMC1):c.7C>A (p.Pro3Thr)
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rs569626109
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NM_138691.3(TMC1):c.814A>C (p.Arg272=)
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NM_138691.3(TMC1):c.841G>T (p.Gly281Trp)
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rs397517842
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NM_138691.3(TMC1):c.853A>C (p.Ile285Leu)
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rs2118127067
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NM_138691.3(TMC1):c.859T>C (p.Tyr287His)
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NM_138691.3(TMC1):c.885-17A>G
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NM_138691.3(TMC1):c.916G>A (p.Gly306Arg)
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rs2118177925
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NM_138691.3(TMC1):c.932T>A (p.Phe311Tyr)
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NM_138691.3(TMC1):c.935A>G (p.Asn312Ser)
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NM_138691.3(TMC1):c.938T>C (p.Phe313Ser)
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rs1060499599
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NM_138691.3(TMC1):c.991G>A (p.Ala331Thr)
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rs1470897776
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