Full data view for gene GAA

Information The variants shown are described using the NM_000152.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Unknown - VUS g.78086721C>A g.80112922C>A - - GAA_000020 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Unknown - pathogenic (recessive) g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Tsujino 2000 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Tsujino 2000 - - - - - - - - - 1 Arnold Reuser
+/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Unknown - pathogenic (recessive) g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Shieh 1994 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Shieh 1994 - - - - - - - - - 1 Arnold Reuser
+/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Unknown - pathogenic (recessive) g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Hermans 1993 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Hermans 1993 - - - - - - - - - 1 Arnold Reuser
+/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Unknown - pathogenic (recessive) g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Hermans 1993 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Hermans 1993 - - - - - - - - - 1 Arnold Reuser
+/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Unknown - pathogenic (recessive) g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Adams 1997 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Adams 1997 - - - - - - - - - 1 Arnold Reuser
+/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Unknown - pathogenic (recessive) g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Shieh 1998 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Shieh 1998 - - - - - - - - - 1 Arnold Reuser
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Unknown ACMG likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 predicted potentially less severe, classic infantile phenotype when combined with null allele; predicted CRIM+ (endogenous protein on Western blot) ; Align GVGD class C35 (GV: 0.00-GD: 44.60), SIFT deleterious (score: 0), Mutation Taster disease causing (p-value: 0.923) Pompe disease database 938 - rs28940868 SUMMARY record - MAF <0.01 - - - - - - - - - - - - - - - - - - - - -
+/. - c.1935C>A r.(?) p.(Asp645Glu) - Unknown - pathogenic g.78086721C>A g.80112922C>A GAA(NM_000152.3):c.1935C>A (p.D645E) - GAA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1935C>A r.(?) p.(Asp645Glu) - Unknown - VUS g.78086721C>A g.80112922C>A GAA(NM_000152.3):c.1935C>A (p.D645E) - GAA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 no 2nd variant reported PubMed: Ko 1999 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Ko 1999 - - - China - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 no 2nd variant reported; Asian pseudodeficiency allele PubMed: Amarinthnukrowh 2010 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Amarinthnukrowh 2010 - F - Thailand - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Both (homozygous) - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Ko 1999 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Ko 1999 - - - China - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Both (homozygous) - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Tsujino 2000 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Tsujino 2000 - - - Japan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Both (homozygous) - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Shieh 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Shieh 1998 - - - Taiwan - - - shared by Pompe Center Rotterdam - 17 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Both (homozygous) - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Both (homozygous) - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 11 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Both (homozygous) - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Amarinthnukrowh 2010 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Amarinthnukrowh 2010 family, 3 affected females F - Thailand - - - shared by Pompe Center Rotterdam - 3 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Both (homozygous) - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Chien 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2011 - F - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - 12m - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Shieh 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Shieh 1998 - - - Taiwan - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Ko 1999 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Ko 1999 - - - China - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Chien 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2015 - F - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - 15m - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Liu 2014 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Liu 2014 family, 2 affected (M/F) F;M - China - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Chien 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2011 - M - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Yang 2016 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Yang 2016 - M - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Yang 2014 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Yang 2014 - M - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - 31m - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Ko 1999 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Ko 1999 - - - China - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Hermans 1993 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 1993 - F - - African american - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - 12m - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #1 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Chien 2015, PubMed: Chien 2009, PubMed: Chien 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2015, PubMed: Chien 2009, PubMed: Chien 2011 - M - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Chien 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2011 - M - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Chien 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2015 - - - Taiwan - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Chien 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2011 - F - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Yang 2014 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Yang 2014 - M - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Chien 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2015 - - - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Shieh 1996 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Shieh 1996 - M - China - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Shieh 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Shieh 1998 - - - Taiwan - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 3 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Chien 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2011 - F - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Chien 2014 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2014 - M - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - 10m - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Fu 2014 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Fu 2014 - M - China Northern China <19m - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Tsujino 2000 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Tsujino 2000 - - - Japan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Ko 1999 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Ko 1999 - - - China - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Ko 1999 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Ko 1999 - - - China - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Yang 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Yang 2011 - - - China - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Chien 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2011 - M - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Wan 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wan 2008 - - - Taiwan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Parent #2 - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 - PubMed: Dou 2006 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Dou 2006 - F - China - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 14 c.1935C>A r.(?) p.(Asp645Glu) - Unknown - likely pathogenic g.78086721C>A g.80112922C>A - - GAA_000020 Asian pseudodeficiency allele PubMed: Chien 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Chien 2011 family, 3 affected (M/F/M) F;M - Taiwan - - - shared by Pompe Center Rotterdam - 3 Pim Pijnappel
?/. - c.1935C>A r.(?) p.(Asp645Glu) 0 nmol/mg/h Unknown ACMG VUS g.78086721C>A g.80112922C>A - - GAA_000020 - - - - Germline - - - - - DNA SEQ - - GSD2 - - - F - China - - - - - 1 Xueying Su
?/. - c.1935C>A r.(1935c>a) p.(Asp645Glu) - Maternal (confirmed) - pathogenic (recessive) g.78086721C>A g.80112922C>A - - GAA_000020 - - - - Germline - - - - - DNA SEQ - - GSD2 - - - F - - - - - - - 1 Xueying Su
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