Full data view for gene GAA

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

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

ClassClinical     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. VUS 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. VUS 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. VUS 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. VUS 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. VUS 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A g.80104857G>A - - GAA_000003 variant basis of GAA*2 allozyme PubMed: Martiniuk 1990, OMIM:var0001 - - Germline - - TaqI- 0 - DNA SEQ - - Healthy/Control ? PubMed: Martiniuk 1990 - - - - - - 0 - - 1 Arnold Reuser
-?/. likely benign 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Hermans 1998 - - Germline - - - 0 - DNA SEQ - - GSD-2 09521422-PatC PubMed: Hermans 1998 - - - Turkey - - 0 - - 1 Arnold Reuser
-?/. likely benign - c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A - GAA(NM_000152.3):c.271G>A (p.D91N) - GAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. benign - c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A - GAA(NM_000152.3):c.271G>A (p.D91N) - GAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. likely benign - c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A - GAA(NM_000152.3):c.271G>A (p.D91N) - GAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. VUS 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. VUS 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. ACMG: 2 2 c.271G>A r.(?) p.(Asp91Asn) lowers affinity for glycogen (GAA2) Unknown g.78078656G>A - - - GAA_000003 predicted presumably non-pathogenic, unknown phenotype when combined with null allele; predicted CRIM+ (protein expressed); Align GVGD class C0 (GV: 65.47-GD: 3.99), SIFT tolerated (score: 0.08), Mutation Taster polymorphism (p-value: 0) Pompe disease database 587 - rs1800299 SUMMARY record - MAF >0.01 - 0 - - - - - - - - - - - - - - - - - - -
-?/. likely benign 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 g.78078656G>A - - - GAA_000003 - - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. NA 2 c.271G>A r.[271g>a, -32_486del, -32_546del] p.[Asp91=, 0?] - Unknown g.78078656G>A - - - GAA_000003 functional analysis using expression cloning in minigene splicing assay Dardis 2019, submitted - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. VUS - c.271G>A r.(?) p.(Asp91Asn) - Unknown g.78078656G>A - GAA(NM_000152.3):c.271G>A (p.D91N) - GAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend