Full data view for gene FBLN5

Information The variants shown are described using the NM_006329.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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ID_report     

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?/. 1 c.-414C>T r.(?) p.(=) Unknown - VUS g.92413987G>A g.91947643G>A - - FBLN5_000013 associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.03) and pseudoexfoliation glaucoma (P-value 0.08) submitted - rs7149187 Germline - 131/347 cases - - - DNA SEQ - - ? cases submitted analysis 347 cases - - India - - - - - 131 Debasmita P Alone
?/. 1 c.-414C>T r.(?) p.(=) Unknown - VUS g.92413987G>A g.91947643G>A - - FBLN5_000013 - submitted - rs7149187 Germline - 135/302 controls - - - DNA ? - - Healthy/Control controls submitted analysis 302 control individuals - - India - - - - - 135 Debasmita P Alone
?/. 1 c.-414C>T r.(?) p.(=) Both (homozygous) - VUS g.92413987G>A g.91947643G>A - - FBLN5_000013 - submitted - rs7149187 Germline - 50/302 controls - - - DNA SEQ Peripheral blood - Healthy/Control controls submitted analysis 302 control individuals - - India - - - - - 50 Debasmita P Alone
?/. 1 c.-414C>T r.(?) p.(=) Both (homozygous) - VUS g.92413987G>A g.91947643G>A - - FBLN5_000013 associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.03) and pseudoexfoliation glaucoma (P-value 0.08) submitted - - Germline - 44/347 cases - - - DNA SEQ - - ? cases submitted analysis 347 cases - - India - - - - - 44 Debasmita P Alone
-?/. 1 c.-174del r.spl? p.? Unknown - likely benign g.92413747del - 5UTR-174delG - FBLN5_000032 - PubMed: Barbazetto 2007 - - Germline - found in 6/214 cases and 4/184 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 6 LOVD
-?/. 1 c.-139C>G r.spl? p.? Unknown - likely benign g.92413712G>C - 5UTR-139C>G - FBLN5_000031 - PubMed: Barbazetto 2007 - - Germline - found in 1/214 cases and 1/182 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 1 LOVD
-?/. - c.-12C>T r.(?) p.(=) Unknown - likely benign g.92413585G>A g.91947241G>A FBLN5(NM_006329.4):c.-12C>T - FBLN5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - Glu495X - DRD4_000002 - PubMed: Jacobson 2008 - - Unknown - - - - - DNA ? - Methods described in Aleman 2007, Jacobson 2006, Jacobson 1987 and Roman 2007 retinal disease - PubMed: Jacobson 2008 - M - - - - - - - 1 LOVD
-?/. 1i c.18-28A>G r.spl? p.? Unknown - likely benign g.92409333T>C - IVS1-28A>G - FBLN5_000030 - PubMed: Barbazetto 2007 - - Germline - found in 26/213 cases and 22/183 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 2 LOVD
-?/. 2 c.19+26T>A r.spl? p.? Unknown - likely benign g.92409278A>T - IVS1+26T>A - FBLN5_000029 - PubMed: Barbazetto 2007 - - Germline - found in 2/213 cases and 1/183 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 2 LOVD
-?/. 3i c.124+25T>C r.spl? p.? Unknown - likely benign g.92406884A>G - IVS3+25T>C - FBLN5_000028 - PubMed: Barbazetto 2007 - - Germline - found in 0/214 cases and 1/184 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 1 LOVD
-?/. 3i c.124+71C>T r.spl? p.? Unknown - likely benign g.92406838G>A - IVS3+71C>T - FBLN5_000027 - PubMed: Barbazetto 2007 - - Germline - found in 1/214 cases and 0/184 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 1 LOVD
-?/. 3i c.125-32C>T r.spl? p.? Unknown - likely benign g.92403577G>A - IVS3-32C>T - FBLN5_000026 - PubMed: Barbazetto 2007 - - Germline - found in 2/214 cases and 2/183 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 2 LOVD
?/. - c.224T>C r.(?) p.(Val75Ala) Unknown - VUS g.92403446A>G g.91937102A>G FBLN5(NM_006329.4):c.224T>C (p.V75A) - FBLN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224T>C r.(?) p.(Val75Ala) Unknown - VUS g.92403446A>G g.91937102A>G FBLN5(NM_006329.4):c.224T>C (p.V75A) - FBLN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268G>A r.(?) p.(Gly90Ser) Unknown - likely benign g.92403402C>T g.91937058C>T FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S) - FBLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268G>A r.(?) p.(Gly90Ser) Unknown - VUS g.92403402C>T g.91937058C>T FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S) - FBLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268G>A r.(?) p.(Gly90Ser) Unknown - VUS g.92403402C>T g.91937058C>T FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S) - FBLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268G>A r.(?) p.(Gly90Ser) Unknown - VUS g.92403402C>T - FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S) - FBLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A r.(?) p.(Val126Met) Unknown - likely benign g.92403294C>T g.91936950C>T FBLN5(NM_006329.3):c.376G>A (p.(Val126Met)), FBLN5(NM_006329.4):c.376G>A (p.V126M) - FBLN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.376G>A r.(?) p.(Val126Met) Unknown - VUS g.92403294C>T g.91936950C>T FBLN5(NM_006329.3):c.376G>A (p.(Val126Met)), FBLN5(NM_006329.4):c.376G>A (p.V126M) - FBLN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A r.(?) p.(Val126Met) Unknown - likely benign g.92403294C>T - FBLN5(NM_006329.3):c.376G>A (p.(Val126Met)), FBLN5(NM_006329.4):c.376G>A (p.V126M) - FBLN5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.376G>A r.(?) p.(Val126Met) Unknown - likely pathogenic g.92403294C>T g.91936950C>T 376C>T - FBLN5_000008 - PubMed: Duvvari 2016 - rs61734479 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat10AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
-?/. 5i c.502+14G>C r.spl? p.? Unknown - likely benign g.92361280C>G - IVS5+14G>C - FBLN5_000025 - PubMed: Barbazetto 2007 - - Germline - found in 1/212 cases and 1/184 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 1 LOVD
-/. - c.502+15G>C r.(=) p.(=) Unknown - benign g.92361279C>G g.91894935C>G FBLN5(NM_006329.3):c.502+15G>C, FBLN5(NM_006329.4):c.502+15G>C - FBLN5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.502+15G>C r.(=) p.(=) Unknown - benign g.92361279C>G g.91894935C>G FBLN5(NM_006329.3):c.502+15G>C, FBLN5(NM_006329.4):c.502+15G>C - FBLN5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.604G>A r.(?) p.(Gly202Arg) Unknown - pathogenic g.92357580C>T - 604G>A (G202R) - FBLN5_000024 - PubMed: Barbazetto 2007 - - Germline - found in 1/214 cases and 0/183 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 1 LOVD
-?/. 6i c.620-8T>C r.(=) p.(=) Unknown - likely benign g.92353664A>G - IVS6-8T>C - FBLN5_000018 - PubMed: Barbazetto 2007 - - Germline - found in 4/213 cases and 5/184 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 4 LOVD
+/. 7 c.649T>C r.(?) p.(Cys217Arg) Both (homozygous) - pathogenic g.92353627A>G g.91887283A>G - - FBLN5_000002 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline yes - - - - DNA SEQ - - ARCL1A - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Lebanon - - - - - 1 Bert Callewaert
-?/. - c.651C>T r.(?) p.(Cys217=) Unknown - likely benign g.92353625G>A - FBLN5(NM_006329.3):c.651C>T (p.C217=) - FBLN5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.676G>A r.(?) p.(Gly226Ser) Unknown - VUS g.92353600C>T g.91887256C>T - - FBLN5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.799G>A r.(?) p.(Gly267Ser) Unknown - VUS g.92349361C>T g.91883017C>T FBLN5(NM_006329.3):c.799G>A (p.G267S), FBLN5(NM_006329.4):c.799G>A (p.G267S) - FBLN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.799G>A r.(?) p.(Gly267Ser) Unknown - likely pathogenic g.92349361C>T - FBLN5(NM_006329.3):c.799G>A (p.G267S), FBLN5(NM_006329.4):c.799G>A (p.G267S) - FBLN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 8i c.863-61C>T r.spl? p.? Unknown - likely benign g.92347823G>A - IVS8-61C>T - FBLN5_000023 - PubMed: Barbazetto 2007 - - Germline - found in 0/213 cases and 1/184 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 1 LOVD
-/. - c.863-13C>T r.(=) p.(=) Unknown - benign g.92347775G>A - FBLN5(NM_006329.3):c.863-13C>T, FBLN5(NM_006329.4):c.863-13C>T - FBLN5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.863-13C>T r.(=) p.(=) Unknown - benign g.92347775G>A - FBLN5(NM_006329.3):c.863-13C>T, FBLN5(NM_006329.4):c.863-13C>T - FBLN5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.945T>C r.(?) p.(Ile315=) Unknown - benign g.92347680A>G g.91881336A>G FBLN5(NM_006329.4):c.945T>C (p.I315=) - FBLN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.945T>C r.(?) p.(Ile315=) Unknown - benign g.92347680A>G g.91881336A>G FBLN5(NM_006329.4):c.945T>C (p.I315=) - FBLN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.945T>C r.(?) p.(Ile315=) Unknown - benign g.92347680A>G g.91881336A>G FBLN5(NM_006329.4):c.945T>C (p.I315=) - FBLN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.945T>C r.(?) p.(Ile315=) Unknown - benign g.92347680A>G g.91881336A>G FBLN5(NM_006329.4):c.945T>C (p.I315=) - FBLN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.945T>C r.(?) p.(=) Unknown - VUS g.92347680A>G g.91881336A>G g.91870431T>C - FBLN5_000005 - submitted - rs2430347 Germline - 104/302 controls - - - DNA SEQ Peripheral blood - Healthy/Control controls submitted analysis 302 control individuals - - India - - - - - 104 Debasmita P Alone
?/. 9 c.945T>C r.(?) p.(=) Both (homozygous) - VUS g.92347680A>G g.91881336A>G - - FBLN5_000005 - submitted - rs2430347 Germline - 180/302 controls - - - DNA SEQ Peripheral blood - Healthy/Control controls submitted analysis 302 control individuals - - India - - - - - 180 Debasmita P Alone
?/. 9 c.945T>C r.(?) p.(=) Unknown - VUS g.92347680A>G g.91881336A>G - - FBLN5_000005 associated with pseudoexfoliation (P-value 0.18) and pseudoexfoliation syndrome (P-value 0.21) submitted - rs2430347 Germline - 139/346 cases - - - DNA SEQ Peripheral blood - ? cases submitted analysis 346 cases - - India - - - - - 139 Debasmita P Alone
?/. 9 c.945T>C r.(?) p.(=) Both (homozygous) - VUS g.92347680A>G g.91881336A>G - - FBLN5_000005 associated with pseudoexfoliation (P-value 0.18) and pseudoexfoliation syndrome (P-value 0.21) submitted - rs2430347 Germline - 194/346 cases - - - DNA SEQ Peripheral blood - ? cases submitted analysis 346 cases - - India - - - - - 194 Debasmita P Alone
-?/. 9 c.945T>C r.(=) p.(=) Unknown - likely benign g.92347680A>G - 945T>C (I315I) - FBLN5_000005 - PubMed: Barbazetto 2007 - - Germline - found in 92/212 cases and 72/184 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 9 LOVD
?/. - c.949C>A r.(?) p.(Pro317Thr) Unknown - VUS g.92347676G>T - FBLN5(NM_006329.4):c.949C>A (p.P317T) - FBLN5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.989+13G>A r.(=) p.(=) Unknown - benign g.92347623C>T g.91881279C>T FBLN5(NM_006329.4):c.989+13G>A - FBLN5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.989+13G>A r.(=) p.(=) Unknown - benign g.92347623C>T - FBLN5(NM_006329.4):c.989+13G>A - FBLN5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.990-274T>C r.(=) p.(=) Unknown - benign g.92344300A>G g.91877956A>G FBLN5(NM_006329.4):c.990-274T>C - FBLN5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1052G>A r.(?) p.(Arg351Gln) Unknown - VUS g.92343964C>T - FBLN5(NM_006329.4):c.1052G>A (p.R351Q) - FBLN5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1087G>A r.(?) p.(Ala363Thr) Unknown - pathogenic g.92343929C>T g.91877585C>T - - FBLN5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1093A>G r.(?) p.(Ile365Val) Parent #1 - pathogenic (dominant) g.92343923T>C g.91877579T>C - - FBLN5_000020 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat187 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
-/. - c.1122C>T r.(?) p.(Tyr374=) Unknown - benign g.92343894G>A g.91877550G>A FBLN5(NM_006329.4):c.1122C>T (p.Y374=) - FBLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122C>T r.(?) p.(Tyr374=) Unknown - benign g.92343894G>A g.91877550G>A FBLN5(NM_006329.4):c.1122C>T (p.Y374=) - FBLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10 c.1122C>T r.(=) p.(=) Unknown - likely benign g.92343894G>A - 1122C>T (Y374Y) - FBLN5_000016 - PubMed: Barbazetto 2007 - - Germline - found in 8/213 cases and 9/183 controls - - - DNA DHPLC, SEQ - - retinal disease - PubMed: Barbazetto 2007 - - - - - - - - - 8 LOVD
+/. 10 c.1171G>T r.(?) p.(Glu391*) Both (homozygous) - pathogenic g.92343845C>A g.91877501C>A - - FBLN5_000001 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline yes - - - - DNA SEQ - - ARCL1A - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Algeria - - - - - 1 Bert Callewaert
?/. 10i c.1186-46A>G r.(?) p.(=) Unknown - VUS g.92336775T>C g.91870431T>C - - FBLN5_000014 associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.02) and pseudoexfoliation glaucoma (P-value 0.16) submitted - rs929608 Germline - 176/354 cases - - - DNA SEQ Peripheral blood - ? cases submitted analysis 354 cases - - India - - - - - 176 Debasmita P Alone
?/. 10i c.1186-46A>G r.(?) p.(=) Both (homozygous) - VUS g.92336775T>C g.91870431T>C - - FBLN5_000014 associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.02) and pseudoexfoliation glaucoma (P-value 0.16) submitted - rs929608 Germline - 106/354 cases - - - DNA SEQ Peripheral blood - ? cases submitted analysis 354 cases - - India - - - - - 106 Debasmita P Alone
?/. 10i c.1186-46A>G r.(?) p.(=) Unknown - VUS g.92336775T>C g.91870431T>C - - FBLN5_000014 - submitted - rs929608 Germline - 147/302 controls - - - DNA SEQ Peripheral blood - Healthy/Control controls submitted analysis 302 control individuals - - India - - - - - 147 Debasmita P Alone
?/. 10i c.1186-46A>G r.(?) p.(=) Both (homozygous) - VUS g.92336775T>C g.91870431T>C - - FBLN5_000014 - submitted - rs929608 Germline - 86/302 controls - - - DNA SEQ Peripheral blood - Healthy/Control controls submitted analysis 302 control individuals - - India - - - - - 86 Debasmita P Alone
-?/. - c.1191G>A r.(?) p.(Thr397=) Unknown - likely benign g.92336724C>T g.91870380C>T FBLN5(NM_006329.4):c.1191G>A (p.T397=) - FBLN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275C>T r.(?) p.(Val425=) Unknown - likely benign g.92336640G>A - FBLN5(NM_006329.3):c.1275C>T (p.V425=) - FBLN5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1341A>G r.(?) p.(Pro447=) Unknown - benign g.92336574T>C g.91870230T>C FBLN5(NM_006329.3):c.1341A>G (p.P447=), FBLN5(NM_006329.4):c.1341A>G (p.P447=) - FBLN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1341A>G r.(?) p.(Pro447=) Unknown - likely benign g.92336574T>C - FBLN5(NM_006329.3):c.1341A>G (p.P447=), FBLN5(NM_006329.4):c.1341A>G (p.P447=) - FBLN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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