cDNA Protein Location Description Type Result Expression  
c.-97G>A pseudo ATG exon 1b single base substitution frameshift frameshift NMD View Patients
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c.1A>G p.Met1Val exon 2 single base substitution missense AA change abloished initiation View Patients
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c.18delC p.Ala7ProfsX122 exon 2 deletion frameshift frameshift NMD View Patients
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c.26G>A p.Ser9Asn exon 2 single base substitution missense AA change altered protein View Patients
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c.43_58del16 p.Leu15SerfsX109 exon 2 deletion frameshift frameshift NMD View Patients
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c.52_53delTG p.Cys18X exon 2 deletion non sense direct stop codon generation NMD View Patients
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c.54_55dupTG p.Glu19ValfsX111 exon 2 duplication frameshift frameshift NMD View Patients
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c.63_64delCGinsGA p.Tyr21X exon 2 indel non sense direct stop codon generation NMD View Patients
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c.69_70dupGA p.Lys24ArgfsX106 exon 2 duplication frameshift frameshift NMD View Patients
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c.75_78dupTAAC pIle27X exon 2 duplication non sense direct stop codon generation NMD View Patients
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c.82C>T p.Gln28X exon 2 single base substitution non sense direct stop codon generation NMD View Patients
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c.85_95del11 p.Ala29ArgfsX12 exon 2 deletion frameshift frameshift NMD View Patients
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c.96_97insT p.Asp33X exon 2 insertion non sense direct stop codon generation NMD View Patients
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c.101_105del5 p.Ser34CysfsX9 exon 2 deletion frameshift frameshift NMD View Patients
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c.109C>T p.Gln37X exon 2 single base substitution non sense direct stop codon generation NMD View Patients
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c.124C>T p.Arg42X exon 2 single base substitution non sense direct stop codon generation NMD View Patients
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c.140delT p.Met47ArgfsX82 exon 2 deletion frameshift frameshift NMD View Patients
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c.178-2A>G skips ex 3 intron 2 single base substitution splice shorter protein shorter protein View Patients
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c.178_348del171 p.Glu60_Lys116del intron 2 deletion in-frame deletion in-frame rearrangement shorter protein View Patients
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c.187A>T p.Lys63X exon 3 single base substitution non sense direct stop codon generation NMD View Patients
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c.190C>T p.Gln64X exon 3 single base substitution non sense direct stop codon generation NMD View Patients
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c.205C>T p.Gln69X exon 3 single base substitution non sense direct stop codon generation NMD View Patients
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c.206A>G p.Gln69Arg exon 3 single base substitution missense AA change altered protein View Patients
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c.220_221delCG p.Arg74TyrfsX7 exon 3 deletion frameshift frameshift NMD View Patients
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c.242delA p.Glu81GlyfsX48 exon 3 deletion frameshift frameshift NMD View Patients
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c.267delA p.Val90TrpfsX39 exon 3 deletion frameshift frameshift NMD View Patients
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c.279_282delTAGG p.Arg94GlyfsX34 exon 3 deletion frameshift frameshift NMD View Patients
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c.286C>T p.Arg96X exon 3 single base substitution non sense direct stop codon generation NMD View Patients
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c.289C>T p.Arg97X exon 3 single base substitution non sense direct stop codon generation NMD View Patients
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c.316_317delAC p.Thr106GlyfsX9 exon 3 deletion frameshift frameshift NMD View Patients
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c.319G>T p.Glu107X exon 3 single base substitution non sense direct stop codon generation NMD View Patients
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c.340delG p.Val114LeufsX15 exon 3 deletion frameshift frameshift NMD View Patients
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c.348+1G>C retains intr 3 intron 3 single base substitution splice AA change NMD View Patients
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c.350_353delTTAT p.Val117AspfsX11 exon 4 deletion frameshift frameshift NMD View Patients
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c.353_365del13 p.lle118ThrfsX7 exon 4 deletion frameshift frameshift NMD View Patients
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c.407_408delTG p.Val136AlafsX6 exon 4 deletion frameshift frameshift NMD View Patients
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c.408_412delGCTGT p.Leu137PhefsX4 exon 4 deletion frameshift frameshift NMD View Patients
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c.418_419delCA p.His140SerfsX2 exon 4 deletion frameshift frameshift NMD View Patients
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c.439A>G p.Ser147Gly exon 4 single base substitution missense AA change altered protein View Patients
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c.440G>A p.Ser147Asn exon 4 single base substitution missense AA change altered protein View Patients
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c.440+1G>A retains part of intr 4 intron 4 single base substitution splice AA change NMD View Patients
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c.440+1_440+2insG retains part of intr 4 intron 4 insertion splice AA change NMD View Patients
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c.440+2T>C retains part of intr4 intron 4 single base substitution splice AA change NMD View Patients
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c.440+4delG retains part of intr 4 intron 4 deletion splice AA change NMD View Patients
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c.463delT p.Ser155ArgfsX10 exon 5 deletion frameshift frameshift NMD View Patients
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c.466delG p.Val156SerfsX9 exon 5 deletion frameshift frameshift NMD View Patients
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c.496C>T p.Gln166X exon 5 single base substitution non sense direct stop codon generation NMD View Patients
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c.499C>T* p.Gln167X exon 5 single base substitution non sense direct stop codon generation NMD View Patients
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c.502G>A p.Gly168Ser exon 5 single base substitution missense AA change altered protein View Patients
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c.502+1G>T retains part of intr 5 intron 5 single base substitution splice AA change NMD View Patients
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c.502+1G>T retains part of intr 5 intron 5 single base substitution splice AA change NMD View Patients
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c.528_531delGATTins11 p.lle177MetfsX13 exon 6 indel frameshift frameshift NMD View Patients
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c.531_(549+32)del51 p.l177MetfsX1 exon 6 deletion frameshift frameshift NMD View Patients
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c.545dupC p.Asp183GlyfsX5 exon 6 duplication frameshift frameshift NMD View Patients
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c.547G>T p.Asp183Tyr exon 6 single base substitution missense AA change altered protein View Patients
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c.550(-9-2)del8 skip ex 7 intron 6 deletion splice AA change shorter protein View Patients
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c.550G>A p.Val184lle exon 7 single base substitution missense AA change altered protein View Patients
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c.558_559dupTA p.Asn187llefsX20 exon 7 duplication frameshift frameshift NMD View Patients
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c.566_567delAAinsCAC p.Glu189AlafsX44 exon 7 indel frameshift frameshift NMD View Patients
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c.569G>A p.Trp190X exon 7 single base substitution non sense direct stop codon generation NMD View Patients
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c.570G>A p.Trp190X exon 7 single base substitution non sense direct stop codon generation NMD View Patients
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c.587_588insGG p.Gly197GlufsX10 exon 7 insertion frameshift frameshift NMD View Patients
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c.597delC p.Phe200LeufsX6 exon 7 deletion frameshift frameshift NMD View Patients
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c.619delT p.Tyr207MetfsX15 exon 7 deletion frameshift frameshift NMD View Patients
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c.623delG p.Glyn208GlufsX14 exon 7 deletion frameshift frameshift NMD View Patients
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c.624dupA p.Thr209AsnfsX24 exon 7 duplication frameshift frameshift NMD View Patients
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c.638C>A* p.Ala213Asp exon 7 single base substitution missense AA change altered protein View Patients
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c.652_653delAA p.lys218AspfsX14 exon 7 deletion frameshift frameshift NMD View Patients
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c.658_659delAA p.Asn220CysfsX12 exon 7 deletion frameshift frameshift NMD View Patients
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c.664A>T* p.Lys222X exon 7 single base substitution non sense direct stop codon generation NMD View Patients
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c.669_670delGT p.Trp224GlyfsX8 exon 7 deletion frameshift frameshift NMD View Patients
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c.671G>A p.Trp224X exon 7 single base substitution non sense direct stop codon generation NMD View Patients
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c.672G>A p.Trp224X exon 7 single base substitution non sense direct stop codon generation NMD View Patients
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c.679delG p.Asp227ThrfsX14 exon 7 deletion frameshift frameshift NMD View Patients
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c.682C>T p.Arg228X exon 7 single base substitution non sense direct stop codon generation NMD View Patients
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c.687delT* p.Asp229GlufsX12 exon 7 deletion frameshift frameshift NMD View Patients
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c.693dupT p.Arg232X exon 7 duplication non sense direct stop codon generation NMD View Patients
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c.708+1G>T skip ex 7 intron 7 single base substitution splice AA change shorter protein View Patients
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c.709(-107-5)del103 skips ex 8 intron 7 deletion splice AA change NMD View Patients
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c.172 G>T p.Glu58Ter exon 2 single base substitution non sense direct stop codon generation NMD View Patients
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c.479delC p.Ala160GlufsX5 exon 5 deletion frameshift frameshift NMD View Patients
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c.709(-7-2)del6 skips ex 8 intron 7 deletion splice AA change NMD View Patients
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c.709-7G>A skips ex 8 intron 7 single base substitution splice AA change NMD View Patients
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c.711_712dupAA p.Ser238LysfsX4 exon 8 duplication frameshift frameshift NMD View Patients
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c.718dupC p.Leu240ProfsX8 exon 8 duplication frameshift frameshift NMD View Patients
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c.725dupA p.Arg243AlafsX5 exon 8 duplication frameshift frameshift NMD View Patients
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c.728_740del13 p.Lys244AsnfsX9 exon 8 deletion frameshift frameshift NMD View Patients
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c.738T>G p.Tyr246X exon 8 single base substitution non sense direct stop codon generation NMD View Patients
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c.758_759delTC p.Ser254TryfsX15 exon 8 deletion frameshift frameshift NMD View Patients
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c.763_764delAT p.lle255PhefsX14 exon 8 deletion frameshift frameshift NMD View Patients
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c.764_768delTTTTA p.lle255ArgfsX12 exon 8 deletion frameshift frameshift NMD View Patients
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c.769G>A p.Glu257Lys exon 8 single base substitution missense AA change NMD View Patients
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c.769+5G>C retains part of intr 8 intron 8 single base substitution splice AA change NMD View Patients
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c.786_787delGGinsCT p.Trp262CysfsX2 exon 9 indel missense AA change NMD View Patients
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c.804dupT p.Asp269X exon 9 duplication non sense direct stop codon generation NMD View Patients
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c.812dupT p.Leu271PhefsX7 exon 9 duplication frameshift frameshift NMD View Patients
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c.845_846insA p.Val283CysfsX9 exon 9 insertion frameshift frameshift NMD View Patients
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c.865G>T p.Gly289Trp exon 9 single base substitution missense AA change altered protein View Patients
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c.891+3A>G retains part of intr 9 intron 9 single base substitution splice AA change skips ex 10 View Patients
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c.892-2A>G skips ex 10 intron 9 single base substitution splice AA change skips ex 10 View Patients
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c.910C>T p.Gln304X exon 10 single base substitution non sense direct stop codon generation NMD View Patients
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c.920C>G p.Ser307X exon 10 single base substitution non sense direct stop codon generation NMD View Patients
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c.963_985del23* p.Asp322ThrfsX20 exon 10 deletion frameshift frameshift NMD View Patients
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c.973+1G>A retains part of intr 10 intron 10 single base substitution splice AA change NMD View Patients
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c.974-1G>A* skips ex 11 exon 11 single base substitution splice AA change NMD View Patients
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c.1055_1058delGACC p.Arg352LeufsX88 exon 11 deletion frameshift frameshift elongated protein View Patients
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c.1067_1070delAACGinsGCCCA p.Glu356GlyfsX71 exon 11 indel frameshift frameshift elongated protein View Patients
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c.1083delA p.Cys362AlafsX79 exon 11 deletion frameshift frameshift elongated protein View Patients
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c.1131_1132delTG p.Ser378ThrfsX48 exon 11 deletion frameshift frameshift elongated protein View Patients
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c.1142_1145delTCTG p.Val381GlufsX59 exon 11 deletion frameshift frameshift elongated protein View Patients
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c.46C>T p.Arg16X exon 2 duplication non-sense premature stop codon NMD View Patients
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c.177G>A retains part of intron 2 exon 2 single base substitution splice retains part of intron 2, frameshift NMD View Patients
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c.177+1G>A retains part of intron 2 intron 2 single base substitution splice retains part of intron 2, frameshift NMD View Patients
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c.220C>T p.Arg74Cys exon 3 single base substitution missense AA change expressed View Patients
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c.438A>T p.Arg146Ser exon 4 single base substitution missense AA change expressed View Patients
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c.491_492delTG p.Val164AspfsX5 exon 5 deletion non-sense frameshift NMD View Patients
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c.951delA p.Arg317SerfsX14 exon 10 deletion non-sense frameshift NMD View Patients
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c.1076_1077delTTinsAAATGGGCCAAGA p.Leu359GlnfsX86 exon 11 indel non-sense frameshift, stop codon after the normal stop codon elongated prot. View Patients
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c.545 C>G p.Thr182Arg exon 6 single base substitution missense AA change View Patients
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Deletion All exons Deletion Deletion Whole gene deletion Not expressed View Patients
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Exon 1 Deletion exon 1 deletion View Patients
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Exon 2 Deletion exon 2 deletion View Patients
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Exon 9 to 11 Deletion Exon 9 to 11 deletion View Patients
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c.177+3 A>G retains part of intron 2 intron 2 single base substitution splice frameshift NMD View Patients
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