### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COLEC11) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "COLEC11" "collectin sub-family member 11" "2" "p25.3" "unknown" "NG_031954.1" "UD_134753304968" "" "https://www.LOVD.nl/COLEC11" "" "1" "17213" "78989" "612502" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/COLEC11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-06-16 00:00:00" "00006" "2017-06-29 16:02:36" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005506" "COLEC11" "transcript variant 1" "003" "NM_024027.4" "" "NP_076932.1" "" "" "" "-363" "1342" "816" "3642422" "3692234" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00869" "3MC2" "3MC syndrome, type 2 (3MC2)" "AR" "265050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05896" "3MC" "3MC syndrome (3MC)" "" "" "" "" "" "00006" "2021-02-08 14:53:16" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COLEC11" "00139" "COLEC11" "00869" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00106633" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "Family MC11" "" "" "Italy" "" "0" "" "" "" "" "00106634" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "Family MC4" "" "" "Afghanistan" "" "0" "" "" "" "" "00106635" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "Family MC4" "" "" "Afghanistan" "" "0" "" "" "" "" "00106636" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "Family MC9" "" "" "Pakistan" "" "0" "" "" "" "" "00106637" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "Family MC8" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00106638" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "Family MC2" "" "" "Bangladesh" "" "0" "" "" "" "" "00106639" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "Family MC2" "" "" "Bangladesh" "" "0" "" "" "" "" "00330806" "" "" "" "1" "" "00006" "{PMID:Munye 2017:28301481}" "2-generation family, 1 affected, unaffected parents" "" "yes" "Lebanon" "" "0" "" "" "" "FamMC29.1" "00330807" "" "" "" "1" "" "00006" "{PMID:Munye 2017:28301481}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC35.1" "00330808" "" "" "" "1" "" "00006" "{PMID:Munye 2017:28301481}" "2-generation family, 1 affected, unaffected parents" "" "yes" "Somalia" "" "0" "" "" "" "FamMC37.1" "00330809" "" "" "" "2" "" "00006" "{PMID:Rooryck 2011:21258343}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "yes" "Tunisia" "" "0" "" "" "" "FamMC1Pat1.1" "00330810" "" "" "00330809" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "sister" "F" "yes" "Tunisia" "" "0" "" "" "" "FamMC1Pat1.2" "00330811" "" "" "" "2" "" "00006" "{PMID:Rooryck 2011:21258343}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "yes" "Bangladesh" "" "0" "" "" "" "FamMC2Pat2.1" "00330812" "" "" "00330811" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "brother" "M" "yes" "Bangladesh" "" "0" "" "" "" "FamMC2Pat2.2" "00330813" "" "" "" "2" "" "00006" "{PMID:Rooryck 2011:21258343}" "2-generation family, 2 affected (2M), unaffected heterozygous carrier parents" "M" "yes" "Afghanistan" "" "0" "" "" "" "FamMC4Pat4.1" "00330814" "" "" "00330813" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "brother" "M" "yes" "Afghanistan" "" "0" "" "" "" "FamMC4Pat4.2" "00330815" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamMC8Pat8.1" "00330816" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "" "F" "no" "Pakistan" "" "0" "" "" "" "FamMC9Pat9.1" "00330817" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "" "F" "no" "Italy" "" "0" "" "" "" "FamMC10Pat10" "00330818" "" "" "" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "" "M" "yes" "Italy" "" "0" "" "" "" "FamMC11Pat11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00106633" "00869" "00106634" "00869" "00106635" "00869" "00106636" "00869" "00106637" "00869" "00106638" "00869" "00106639" "00869" "00330806" "05896" "00330807" "05896" "00330808" "05896" "00330809" "05896" "00330810" "05896" "00330811" "05896" "00330812" "05896" "00330813" "05896" "00330814" "05896" "00330815" "05896" "00330816" "05896" "00330817" "05896" "00330818" "05896" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00869, 05896 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000084440" "00869" "00106633" "00006" "Unknown" "" "Carnevale" "" "" "" "" "" "" "" "" "" "0000084441" "00869" "00106634" "00006" "Unknown" "" "Malpuech or Michels" "" "" "" "" "" "" "" "" "" "0000084442" "00869" "00106635" "00006" "Unknown" "" "Malpuech or Michels" "" "" "" "" "" "" "" "" "" "0000084443" "00869" "00106636" "00006" "Unknown" "" "Malpuech" "" "" "" "" "" "" "" "" "" "0000084444" "00869" "00106637" "00006" "Unknown" "" "Carnevale" "" "" "" "" "" "" "" "" "" "0000084445" "00869" "00106638" "00006" "Unknown" "" "Malpuech" "" "" "" "" "" "" "" "" "" "0000084446" "00869" "00106639" "00006" "Unknown" "" "Malpuech" "" "" "" "" "" "" "" "" "" "0000248999" "05896" "00330806" "00006" "Familial, autosomal recessive" "" "no small stature (<3rd); arched eyebrows; blepharoptosis; no epicanthus inversus; no hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties" "" "" "" "" "" "" "" "3MC2" "Carnevale syndrome" "0000249000" "05896" "00330807" "00006" "Familial, autosomal recessive" "" "no small stature (<3rd); arched eyebrows; blepharoptosis; epicanthus inversus; hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties" "" "" "" "" "" "" "" "3MC2" "Carnevale syndrome" "0000249001" "05896" "00330808" "00006" "Familial, autosomal recessive" "" "no small stature (<3rd); arched eyebrows; no blepharoptosis; no epicanthus inversus; no hypertelorism; dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; hypotonia; radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; horseshoe kidney; no micropenis; no undescended testes; corneal clouding; deep set nails; feeding difficulties" "" "" "" "" "" "" "" "3MC2" "Carnevale syndrome" "0000249002" "05896" "00330809" "00006" "Familial, autosomal recessive" "" "no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti" "" "" "" "" "" "" "" "3MC2" "Carnevale syndrome" "0000249003" "05896" "00330810" "00006" "Familial, autosomal recessive" "" "no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; no cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti" "" "" "" "" "" "" "" "3MC2" "Carnevale syndrome" "0000249004" "05896" "00330811" "00006" "Familial, autosomal recessive" "" "growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC2" "Malpuech syndrome" "0000249005" "05896" "00330812" "00006" "Familial, autosomal recessive" "" "growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC2" "Malpuech syndrome" "0000249006" "05896" "00330813" "00006" "Familial, autosomal recessive" "" "growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; cardiac defect; caudal appendage; genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC2" "Malpuech syndrome/Michels syndrome" "0000249007" "05896" "00330814" "00006" "Familial, autosomal recessive" "" "growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; no genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC2" "Malpuech syndrome/Michels syndrome" "0000249008" "05896" "00330815" "00006" "Familial, autosomal recessive" "" "growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC2" "Carnevale syndrome" "0000249009" "05896" "00330816" "00006" "Familial, autosomal recessive" "" "growth deficiency; cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC2" "Malpuech syndrome" "0000249010" "05896" "00330817" "00006" "Familial, autosomal recessive" "" "no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; high arched palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti" "" "" "" "" "" "" "" "3MC2" "Mingarelli syndrome" "0000249011" "05896" "00330818" "00006" "Familial, autosomal recessive" "" "growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; high arched palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti" "" "" "" "" "" "" "" "3MC2" "Carnevale syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000107104" "00106633" "0" "00006" "00002" "2011-06-17 12:56:27" "" "" "SEQ" "DNA" "" "" "0000107105" "00106634" "0" "00006" "00002" "2011-06-17 12:56:27" "" "" "SEQ" "DNA" "" "" "0000107106" "00106635" "0" "00006" "00002" "2011-06-17 12:56:27" "" "" "SEQ" "DNA" "" "" "0000107107" "00106636" "0" "00006" "00002" "2011-06-17 12:56:27" "" "" "SEQ" "DNA" "" "" "0000107108" "00106637" "0" "00006" "00002" "2011-06-17 12:56:27" "" "" "SEQ" "DNA" "" "" "0000107109" "00106638" "0" "00006" "00002" "2011-06-17 12:56:27" "" "" "SEQ" "DNA" "" "" "0000107110" "00106639" "0" "00006" "00002" "2011-06-17 12:56:27" "" "" "SEQ" "DNA" "" "" "0000332025" "00330806" "1" "00006" "00006" "2021-02-08 15:57:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332026" "00330807" "1" "00006" "00006" "2021-02-08 15:57:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332027" "00330808" "1" "00006" "00006" "2021-02-08 15:57:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332028" "00330809" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332029" "00330810" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332030" "00330811" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332031" "00330812" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332032" "00330813" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332033" "00330814" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332034" "00330815" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332035" "00330816" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332036" "00330817" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332037" "00330818" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000107104" "COLEC11" "0000107105" "COLEC11" "0000107106" "COLEC11" "0000107107" "COLEC11" "0000107108" "COLEC11" "0000107109" "COLEC11" "0000107110" "COLEC11" "0000332025" "COLEC11" "0000332026" "COLEC11" "0000332027" "COLEC11" "0000332028" "COLEC11" "0000332029" "COLEC11" "0000332030" "COLEC11" "0000332031" "COLEC11" "0000332032" "COLEC11" "0000332033" "COLEC11" "0000332034" "COLEC11" "0000332035" "COLEC11" "0000332036" "COLEC11" "0000332037" "COLEC11" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 43 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000172850" "3" "97" "2" "3642637" "3660972" "del" "0" "00006" "COLEC11_000004" "g.3642637_3660972del" "" "{PMID:Rooryck 2011:21258343}" "" "Exon 1-3 deletion" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.3595047_3613382del" "" "pathogenic" "" "0000172851" "3" "97" "2" "3691502" "3691502" "subst" "8.12599E-6" "00006" "COLEC11_000002" "g.3691502G>A" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.3643912G>A" "" "pathogenic" "" "0000172852" "3" "97" "2" "3691502" "3691502" "subst" "8.12599E-6" "00006" "COLEC11_000002" "g.3691502G>A" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.3643912G>A" "" "pathogenic" "" "0000172853" "3" "97" "2" "3691502" "3691502" "subst" "8.12599E-6" "00006" "COLEC11_000002" "g.3691502G>A" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.3643912G>A" "" "pathogenic" "" "0000172854" "3" "97" "2" "3691540" "3691542" "del" "0" "00006" "COLEC11_000003" "g.3691540_3691542del" "" "{PMID:Rooryck 2011:21258343}" "" "c.648_650delCTC" "" "Germline" "" "" "0" "" "" "g.3643950_3643952del" "" "pathogenic" "" "0000172855" "3" "97" "2" "3651975" "3651975" "del" "0" "00006" "COLEC11_000001" "g.3651975del" "" "{PMID:Rooryck 2011:21258343}" "" "c.45delC" "" "Germline" "" "" "0" "" "" "g.3604385del" "" "pathogenic" "" "0000172856" "3" "97" "2" "3651975" "3651975" "del" "0" "00006" "COLEC11_000001" "g.3651975del" "" "{PMID:Rooryck 2011:21258343}" "" "c.45delC" "" "Germline" "" "" "0" "" "" "g.3604385del" "" "pathogenic" "" "0000251143" "0" "10" "2" "3673680" "3673680" "subst" "0.00745117" "02326" "COLEC11_000010" "g.3673680A>G" "" "" "" "COLEC11(NM_199235.3):c.191A>G (p.Q64R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3626090A>G" "" "benign" "" "0000267071" "0" "10" "2" "3673648" "3673648" "subst" "0.124973" "02325" "COLEC11_000009" "g.3673648G>A" "" "" "" "COLEC11(NM_199235.3):c.159G>A (p.K53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3626058G>A" "" "benign" "" "0000267072" "0" "10" "2" "3653844" "3653844" "subst" "0.755397" "02325" "COLEC11_000007" "g.3653844T>C" "" "" "" "COLEC11(NM_199235.3):c.42+1784T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3606254T>C" "" "benign" "" "0000267073" "0" "10" "2" "3652616" "3652616" "subst" "0.726562" "02325" "COLEC11_000005" "g.3652616G>C" "" "" "" "COLEC11(NM_199235.3):c.42+556G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3605026G>C" "" "benign" "" "0000270516" "0" "30" "2" "3653808" "3653808" "subst" "7.79821E-5" "02326" "COLEC11_000006" "g.3653808C>T" "" "" "" "COLEC11(NM_001255986.1):c.27C>T (p.Y9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3606218C>T" "" "likely benign" "" "0000274312" "0" "30" "2" "3687926" "3687926" "subst" "1.22385E-5" "01943" "COLEC11_000011" "g.3687926G>A" "" "" "" "COLEC11(NM_199235.2):c.319+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3640336G>A" "" "likely benign" "" "0000274313" "0" "30" "2" "3691324" "3691324" "subst" "0.0037063" "01943" "COLEC11_000012" "g.3691324C>T" "" "" "" "COLEC11(NM_001255982.1):c.360C>T (p.(Ala120=)), COLEC11(NM_199235.2):c.423C>T (p.A141=), COLEC11(NM_199235.3):c.423C>T (p.A141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3643734C>T" "" "likely benign" "" "0000274314" "0" "30" "2" "3660935" "3660935" "subst" "0.000350619" "01943" "COLEC11_000008" "g.3660935C>T" "" "" "" "COLEC11(NM_199235.2):c.77C>T (p.P26L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3613345C>T" "" "likely benign" "" "0000326838" "0" "50" "2" "3691557" "3691557" "subst" "2.03069E-5" "01804" "COLEC11_000013" "g.3691557T>C" "" "" "" "COLEC11(NM_001255982.1):c.593T>C (p.(Met198Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3643967T>C" "" "VUS" "" "0000515747" "0" "30" "2" "3660931" "3660931" "subst" "0.000140546" "01943" "COLEC11_000015" "g.3660931C>A" "" "" "" "COLEC11(NM_199235.2):c.73C>A (p.P25T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3613341C>A" "" "likely benign" "" "0000515749" "0" "30" "2" "3673678" "3673678" "subst" "4.06058E-6" "02326" "COLEC11_000016" "g.3673678A>G" "" "" "" "COLEC11(NM_199235.3):c.189A>G (p.S63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3626088A>G" "" "likely benign" "" "0000515757" "0" "30" "2" "3691324" "3691324" "subst" "0.0037063" "02326" "COLEC11_000012" "g.3691324C>T" "" "" "" "COLEC11(NM_001255982.1):c.360C>T (p.(Ala120=)), COLEC11(NM_199235.2):c.423C>T (p.A141=), COLEC11(NM_199235.3):c.423C>T (p.A141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3643734C>T" "" "likely benign" "" "0000515758" "0" "30" "2" "3691406" "3691406" "subst" "0.000635567" "01943" "COLEC11_000017" "g.3691406G>A" "" "" "" "COLEC11(NM_199235.2):c.505G>A (p.G169S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3643816G>A" "" "likely benign" "" "0000621034" "0" "30" "2" "3673657" "3673657" "subst" "6.90316E-5" "01943" "COLEC11_000018" "g.3673657G>A" "" "" "" "COLEC11(NM_199235.2):c.168G>A (p.S56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3626067G>A" "" "likely benign" "" "0000716631" "3" "90" "2" "3652019" "3652028" "del" "0" "00006" "COLEC11_000020" "g.3652019_3652028del" "" "{PMID:Munye 2017:28301481}" "" "89_98delATGACGCCTG" "" "Germline" "" "" "0" "" "" "g.3604429_3604438del" "" "pathogenic (recessive)" "" "0000716632" "3" "90" "2" "3687902" "3687902" "del" "0" "00006" "COLEC11_000022" "g.3687902del" "" "{PMID:Munye 2017:28301481}" "" "c.309del" "" "Germline" "" "" "0" "" "" "g.3640312del" "" "pathogenic (recessive)" "" "0000716633" "3" "70" "2" "3691388" "3691388" "subst" "0" "00006" "COLEC11_000023" "g.3691388G>A" "" "{PMID:Munye 2017:28301481}" "" "G496A" "" "Germline" "" "" "0" "" "" "g.3643798G>A" "" "likely pathogenic (recessive)" "" "0000718759" "0" "50" "2" "3685162" "3685162" "subst" "0.00034515" "01943" "COLEC11_000021" "g.3685162G>A" "" "" "" "COLEC11(NM_199235.2):c.233G>A (p.R78H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729277" "3" "90" "2" "3691397" "3691397" "subst" "0" "00006" "COLEC11_000024" "g.3691397T>C" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.3643807T>C" "" "pathogenic (recessive)" "" "0000729278" "3" "90" "2" "3691397" "3691397" "subst" "0" "00006" "COLEC11_000024" "g.3691397T>C" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.3643807T>C" "" "pathogenic (recessive)" "" "0000729279" "3" "90" "2" "3651975" "3651975" "del" "0" "00006" "COLEC11_000001" "g.3651975del" "" "{PMID:Rooryck 2011:21258343}" "" "45delC" "" "Germline" "" "" "0" "" "" "g.3604385del" "" "pathogenic (recessive)" "" "0000729280" "3" "90" "2" "3651975" "3651975" "del" "0" "00006" "COLEC11_000001" "g.3651975del" "" "{PMID:Rooryck 2011:21258343}" "" "45delC" "" "Germline" "" "" "0" "" "" "g.3604385del" "" "pathogenic (recessive)" "" "0000729281" "3" "90" "2" "3691502" "3691502" "subst" "8.12599E-6" "00006" "COLEC11_000002" "g.3691502G>A" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.3643912G>A" "" "pathogenic (recessive)" "" "0000729282" "3" "90" "2" "3691502" "3691502" "subst" "8.12599E-6" "00006" "COLEC11_000002" "g.3691502G>A" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.3643912G>A" "" "pathogenic (recessive)" "" "0000729283" "3" "90" "2" "3691540" "3691542" "del" "0" "00006" "COLEC11_000003" "g.3691540_3691542del" "" "{PMID:Rooryck 2011:21258343}" "" "648_650delCTC" "" "Germline" "" "" "0" "" "" "g.3643950_3643952del" "" "pathogenic (recessive)" "" "0000729284" "3" "90" "2" "3691502" "3691502" "subst" "8.12599E-6" "00006" "COLEC11_000002" "g.3691502G>A" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.3643912G>A" "" "pathogenic (recessive)" "" "0000729285" "3" "90" "2" "3687893" "3687893" "del" "0" "00006" "COLEC11_000022" "g.3687893del" "" "{PMID:Rooryck 2011:21258343}" "" "309delT" "" "Germline" "" "" "0" "" "" "g.3640303del" "" "pathogenic (recessive)" "" "0000729286" "3" "90" "2" "3642422" "3660973" "del" "0" "00006" "COLEC11_000019" "g.(?_3642422)_(3660973_3685122)del" "" "{PMID:Rooryck 2011:21258343}" "" "del ex1-3" "" "Germline" "" "" "0" "" "" "g.(?_3594832)_(3613383_3637532)del" "" "pathogenic (recessive)" "" "0000800589" "0" "30" "2" "3691394" "3691394" "subst" "0" "01943" "COLEC11_000025" "g.3691394C>T" "" "" "" "COLEC11(NM_199235.2):c.493C>T (p.L165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947838" "0" "30" "2" "3691324" "3691324" "subst" "0.0037063" "01804" "COLEC11_000012" "g.3691324C>T" "" "" "" "COLEC11(NM_001255982.1):c.360C>T (p.(Ala120=)), COLEC11(NM_199235.2):c.423C>T (p.A141=), COLEC11(NM_199235.3):c.423C>T (p.A141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033309" "0" "50" "2" "3687868" "3687868" "subst" "0" "01804" "COLEC11_000026" "g.3687868G>T" "" "" "" "COLEC11(NM_024027.5):c.275G>T (p.(Gly92Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033310" "0" "30" "2" "3687927" "3687927" "subst" "0" "01804" "COLEC11_000027" "g.3687927G>A" "" "" "" "COLEC11(NM_024027.5):c.328+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033311" "0" "50" "2" "3691338" "3691338" "subst" "3.25783E-5" "01804" "COLEC11_000028" "g.3691338C>T" "" "" "" "COLEC11(NM_024027.5):c.446C>T (p.(Thr149Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050514" "0" "50" "2" "3660939" "3660939" "subst" "0.000472947" "01804" "COLEC11_000029" "g.3660939C>T" "" "" "" "COLEC11(NM_024027.5):c.169C>T (p.(Arg57Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050515" "0" "50" "2" "3691326" "3691326" "subst" "5.29855E-5" "01804" "COLEC11_000030" "g.3691326G>T" "" "" "" "COLEC11(NM_024027.5):c.434G>T (p.(Gly145Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050516" "0" "50" "2" "3691473" "3691473" "subst" "0.000223628" "01804" "COLEC11_000031" "g.3691473C>T" "" "" "" "COLEC11(NM_024027.5):c.581C>T (p.(Ala194Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes COLEC11 ## Count = 43 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000172850" "00005506" "97" "-148" "-1" "202" "1" "c.-148-?_202+?del" "r.(?)" "p.?" "?" "0000172851" "00005506" "97" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "?" "0000172852" "00005506" "97" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "?" "0000172853" "00005506" "97" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "?" "0000172854" "00005506" "97" "648" "0" "650" "0" "c.648_650del" "r.(?)" "p.(Ser217del)" "?" "0000172855" "00005506" "97" "45" "0" "45" "0" "c.45del" "r.(?)" "p.(Phe16Serfs*85)" "2" "0000172856" "00005506" "97" "45" "0" "45" "0" "c.45del" "r.(?)" "p.(Phe16Serfs*85)" "2" "0000251143" "00005506" "10" "203" "-11443" "203" "-11443" "c.203-11443A>G" "r.(=)" "p.(=)" "" "0000267071" "00005506" "10" "203" "-11475" "203" "-11475" "c.203-11475G>A" "r.(=)" "p.(=)" "" "0000267072" "00005506" "10" "130" "1784" "130" "1784" "c.130+1784T>C" "r.(=)" "p.(=)" "" "0000267073" "00005506" "10" "130" "556" "130" "556" "c.130+556G>C" "r.(=)" "p.(=)" "" "0000270516" "00005506" "30" "130" "1748" "130" "1748" "c.130+1748C>T" "r.(=)" "p.(=)" "" "0000274312" "00005506" "30" "328" "5" "328" "5" "c.328+5G>A" "r.spl?" "p.?" "" "0000274313" "00005506" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Ala144=)" "" "0000274314" "00005506" "30" "165" "0" "165" "0" "c.165C>T" "r.(?)" "p.(Pro55=)" "" "0000326838" "00005506" "50" "665" "0" "665" "0" "c.665T>C" "r.(?)" "p.(Met222Thr)" "" "0000515747" "00005506" "30" "161" "0" "161" "0" "c.161C>A" "r.(?)" "p.(Ala54Asp)" "" "0000515749" "00005506" "30" "203" "-11445" "203" "-11445" "c.203-11445A>G" "r.(=)" "p.(=)" "" "0000515757" "00005506" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Ala144=)" "" "0000515758" "00005506" "30" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "" "0000621034" "00005506" "30" "203" "-11466" "203" "-11466" "c.203-11466G>A" "r.(=)" "p.(=)" "" "0000716631" "00005506" "90" "89" "0" "98" "0" "c.89_98del" "r.(?)" "p.(Asp30Alafs*68)" "" "0000716632" "00005506" "90" "309" "0" "309" "0" "c.309del" "r.(?)" "p.(Gly104Valfs*29)" "" "0000716633" "00005506" "70" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Ala166Thr)" "" "0000718759" "00005506" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81His)" "" "0000729277" "00005506" "90" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Ser169Pro)" "" "0000729278" "00005506" "90" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Ser169Pro)" "" "0000729279" "00005506" "90" "45" "0" "45" "0" "c.45del" "r.(?)" "p.(Phe16Serfs*85)" "" "0000729280" "00005506" "90" "45" "0" "45" "0" "c.45del" "r.(?)" "p.(Phe16Serfs*85)" "" "0000729281" "00005506" "90" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "" "0000729282" "00005506" "90" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "" "0000729283" "00005506" "90" "648" "0" "650" "0" "c.648_650del" "r.(?)" "p.(Ser217del)" "" "0000729284" "00005506" "90" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Gly204Ser)" "" "0000729285" "00005506" "90" "309" "0" "309" "0" "c.309del" "r.(?)" "p.(Ile100Metfs*33)" "" "0000729286" "00005506" "90" "0" "0" "0" "0" "c.-363_(202+1_203-1){0}" "r.?" "p.?" "_1_3i" "0000800589" "00005506" "30" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Leu168=)" "" "0000947838" "00005506" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Ala144=)" "" "0001033309" "00005506" "50" "275" "0" "275" "0" "c.275G>T" "r.(?)" "p.(Gly92Val)" "" "0001033310" "00005506" "30" "328" "6" "328" "6" "c.328+6G>A" "r.(=)" "p.(=)" "" "0001033311" "00005506" "50" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Thr149Met)" "" "0001050514" "00005506" "50" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Trp)" "" "0001050515" "00005506" "50" "434" "0" "434" "0" "c.434G>T" "r.(?)" "p.(Gly145Val)" "" "0001050516" "00005506" "50" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Ala194Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000107104" "0000172850" "0000107105" "0000172851" "0000107106" "0000172852" "0000107107" "0000172853" "0000107108" "0000172854" "0000107109" "0000172855" "0000107110" "0000172856" "0000332025" "0000716631" "0000332026" "0000716632" "0000332027" "0000716633" "0000332028" "0000729277" "0000332029" "0000729278" "0000332030" "0000729279" "0000332031" "0000729280" "0000332032" "0000729281" "0000332033" "0000729282" "0000332034" "0000729283" "0000332035" "0000729284" "0000332036" "0000729285" "0000332037" "0000729286"