### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EMILIN1) # 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}}" "EMILIN1" "elastin microfibril interfacer 1" "2" "p23.3-p23.2" "unknown" "NG_046849.1" "UD_132378870021" "" "https://www.LOVD.nl/EMILIN1" "" "1" "19880" "11117" "130660" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/EMILIN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-09 13:17:05" "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}}" "00007073" "EMILIN1" "elastin microfibril interfacer 1" "001" "NM_007046.3" "" "NP_008977.1" "" "" "" "-499" "3439" "3051" "27301435" "27309271" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00303287" "" "" "" "2" "" "00006" "Beyens ESHG2020 C29.3,{PMID:Adamo 2022:36351433}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "Middle-East" "Fam1PatIV1" "00303289" "" "" "" "1" "" "00006" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "white;Europe" "Fam3PatIII1" "00426060" "" "" "" "2" "" "00006" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "2-generation family, 2 affected brotherss, unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "Middle-East" "Fam2PatIV2" "00426061" "" "" "00426060" "1" "" "00006" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "brother" "M" "" "" "" "0" "" "" "" "Fam2PatIV3" "00426062" "" "" "00303287" "1" "" "00006" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "brother" "M" "yes" "" "" "0" "" "" "Middle-East" "Fam1PatIV2" "00426063" "" "" "" "1" "" "00006" "{PMID:Adamo 2022:36351433}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "" "" "0" "" "" "Hispanic;American" "Fam4PatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00303287" "00198" "00303289" "00198" "00426060" "00198" "00426061" "00198" "00426062" "00198" "00426063" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000230363" "00198" "00303287" "00006" "Familial, X-linked recessive" "07y" "see paper; ..., short palpebral fissures; downslanted palpebral fissures; epicanthus; blue sclerae; convex nasal ridge; wide nasal ridge; thin upper lip; flat philtrum; highly arched palate; dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; no coarctation of the aorta; no arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; joint hyperlaxity; no fractures; no muscle hypotonia; cutis laxa; thin, velvety skin; no petechiae at birth; cephalohematoma; no respiratory distress; hydronephrosis; no seizures" "" "" "" "" "" "" "" "" "" "arterial tortuosity, fractures" "" "0000230365" "00198" "00303289" "00006" "Familial, autosomal recessive" "00y06m" "see paper; ..., short palpebral fissures; no downslanted palpebral fissures; no epicanthus; blue sclerae; convex nasal ridge; wide nasal ridge; thin upper lip; flat philtrum; highly arched palate; no dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; no coarctation of the aorta; no arterial stenosis; abnormal implantation of aortic branches; no arterial dissection; no joint hyperlaxity; fractures; birth 2 fractures; muscle hypotonia; cutis laxa; thin, velvety skin; petechiae at birth; cephalohematoma; respiratory distress; no hydronephrosis; seizures" "" "" "" "" "" "" "" "" "" "arterial tortuosity, fractures" "" "0000317224" "00198" "00426060" "00006" "Familial, autosomal recessive" "00y03m" "see paper; ..., no short palpebral fissures; no downslanted palpebral fissures; no epicanthus; no blue sclerae; no convex nasal ridge; no wide nasal ridge; no thin upper lip; no flat philtrum; no highly arched palate; no dolichocephaly; aortic tortuosity; tortuosity of other arteries; no aortic root dilatation; coarctation of the aorta; arterial stenosis; abnormal implantation of aortic branches; no arterial dissection; no joint hyperlaxity; fractures; 21d-7 fractures; no muscle hypotonia; no cutis laxa; no thin, velvety skin; no petechiae at birth; no cephalohematoma; respiratory distress; hydronephrosis; no seizures" "" "" "" "" "" "" "" "" "" "arterial tortuosity, fractures" "" "0000317225" "00198" "00426061" "00006" "Familial, autosomal recessive" "00y00m14d" "see paper; ..., no short palpebral fissures; no downslanted palpebral fissures; thin upper lip; no flat philtrum; dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; coarctation of the aorta; arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; joint hyperlaxity; fractures; birth 1 fracture; muscle hypotonia; no cutis laxa; petechiae at birth; cephalohematoma; respiratory distress; hydronephrosis; no seizures" "" "" "" "" "" "" "" "" "" "arterial tortuosity, fractures" "" "0000317226" "00198" "00426062" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., short palpebral fissures; downslanted palpebral fissures; epicanthus; blue sclerae; convex nasal ridge; wide nasal ridge; thin upper lip; flat philtrum; highly arched palate; dolichocephaly; aortic tortuosity; no aortic root dilatation; no coarctation of the aorta; no arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; joint hyperlaxity; fractures; neonatal/4y-4 fractures; no muscle hypotonia; cutis laxa; thin, velvety skin; no petechiae at birth; no cephalohematoma; no respiratory distress; no hydronephrosis; seizures" "" "" "" "" "" "" "" "" "" "arterial tortuosity, fractures" "" "0000317227" "00198" "00426063" "00006" "Familial, autosomal recessive" "01y06m" "see paper; ..., no short palpebral fissures; no downslanted palpebral fissures; no epicanthus; no blue sclerae; no convex nasal ridge; no wide nasal ridge; no thin upper lip; no flat philtrum; no highly arched palate; no dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; no coarctation of the aorta; no arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; no joint hyperlaxity; fractures; 8m-1 fracture; no muscle hypotonia; no cutis laxa; no thin, velvety skin; no petechiae at birth; no cephalohematoma; no respiratory distress; hydronephrosis (resolved); no seizures" "" "" "" "" "" "" "" "" "" "arterial tortuosity, fractures" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304411" "00303287" "1" "00006" "00006" "2020-06-09 14:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304413" "00303289" "1" "00006" "00006" "2020-06-09 14:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427380" "00426060" "1" "00006" "00006" "2020-06-09 14:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427381" "00426061" "1" "00006" "00006" "2022-11-27 11:08:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427382" "00426062" "1" "00006" "00006" "2022-11-27 11:12:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427383" "00426063" "1" "00006" "00006" "2022-11-27 11:27:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000304411" "EMILIN1" "0000304413" "EMILIN1" "0000427380" "EMILIN1" "0000427381" "EMILIN1" "0000427382" "EMILIN1" ## 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 = 51 "{{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}}" "0000245869" "0" "10" "2" "27303755" "27303755" "subst" "0.993637" "02330" "EMILIN1_000001" "g.27303755A>G" "" "" "" "EMILIN1(NM_007046.4):c.446A>G (p.Q149R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000271135" "0" "30" "2" "27305360" "27305360" "subst" "0.00091756" "02326" "EMILIN1_000002" "g.27305360C>T" "" "" "" "EMILIN1(NM_007046.4):c.921C>T (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27082492C>T" "" "likely benign" "" "0000515520" "0" "30" "2" "27303754" "27303754" "subst" "0.000264755" "02326" "EMILIN1_000003" "g.27303754C>A" "" "" "" "EMILIN1(NM_007046.4):c.445C>A (p.R149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27080886C>A" "" "likely benign" "" "0000515521" "0" "10" "2" "27305584" "27305584" "subst" "0.00089107" "02326" "CGREF1_000002" "g.27305584G>A" "" "" "" "EMILIN1(NM_007046.4):c.1145G>A (p.R382Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27082716G>A" "" "benign" "" "0000515522" "0" "30" "2" "27306114" "27306114" "subst" "4.09353E-5" "02326" "CGREF1_000003" "g.27306114C>T" "" "" "" "EMILIN1(NM_007046.4):c.1675C>T (p.R559W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27083246C>T" "" "likely benign" "" "0000607883" "0" "50" "2" "27306131" "27306131" "subst" "2.46196E-5" "02327" "CGREF1_000006" "g.27306131G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27083263G>A" "" "VUS" "" "0000607884" "0" "50" "2" "27306726" "27306726" "subst" "8.25757E-6" "02327" "CGREF1_000007" "g.27306726C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27083858C>T" "" "VUS" "" "0000607885" "0" "30" "2" "27306853" "27306853" "subst" "5.568E-5" "02327" "CGREF1_000008" "g.27306853A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27083985A>G" "" "likely benign" "" "0000621016" "0" "50" "2" "27305149" "27305149" "subst" "0" "02326" "CGREF1_000005" "g.27305149T>G" "" "" "" "EMILIN1(NM_007046.4):c.710T>G (p.L237R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27082281T>G" "" "VUS" "" "0000621017" "0" "30" "2" "27308020" "27308020" "subst" "0.00258775" "02326" "CGREF1_000010" "g.27308020C>A" "" "" "" "EMILIN1(NM_007046.4):c.2576-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27085152C>A" "" "likely benign" "" "0000654614" "0" "30" "2" "27305787" "27305787" "subst" "3.63329E-5" "02326" "CGREF1_000011" "g.27305787G>A" "" "" "" "EMILIN1(NM_007046.4):c.1348G>A (p.G450R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27082919G>A" "" "likely benign" "" "0000654615" "0" "30" "2" "27306061" "27306061" "subst" "0.000385287" "02330" "CGREF1_000012" "g.27306061G>A" "" "" "" "EMILIN1(NM_007046.4):c.1622G>A (p.R541Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27083193G>A" "" "likely benign" "" "0000654616" "0" "30" "2" "27308020" "27308020" "subst" "0.00258775" "02330" "CGREF1_000010" "g.27308020C>A" "" "" "" "EMILIN1(NM_007046.4):c.2576-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27085152C>A" "" "likely benign" "" "0000667852" "3" "90" "2" "27305270" "27305270" "dup" "0" "00006" "EMILIN1_000006" "g.27305270dup" "" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "" "831dupA" "NMD of mRNA" "Germline" "yes" "" "0" "" "" "g.27082402dup" "VCV001527980.1" "pathogenic (recessive)" "" "0000667854" "11" "90" "2" "27307299" "27307324" "dup" "0" "00006" "EMILIN1_000007" "g.27307299_27307324dup" "" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "" "" "NMD of mRNA" "Germline" "" "" "0" "" "" "g.27084431_27084456dup" "VCV001343812.1" "pathogenic (recessive)" "" "0000667855" "21" "90" "2" "27302052" "27302052" "dup" "0" "00006" "EMILIN1_000004" "g.27302052dup" "" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "" "119dupC" "NMD of mRNA" "Germline" "" "" "0" "" "" "g.27079184dup" "VCV001344492.26" "pathogenic (recessive)" "" "0000676606" "0" "50" "2" "27305403" "27305403" "subst" "4.43991E-5" "02326" "CGREF1_000014" "g.27305403C>T" "" "" "" "EMILIN1(NM_007046.4):c.964C>T (p.R322W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676607" "0" "10" "2" "27305611" "27305611" "subst" "0.00237317" "02330" "CGREF1_000015" "g.27305611C>A" "" "" "" "EMILIN1(NM_007046.4):c.1172C>A (p.A391E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688729" "0" "10" "2" "27308159" "27308159" "subst" "0.019037" "02330" "CGREF1_000016" "g.27308159G>A" "" "" "" "EMILIN1(NM_007046.4):c.2707G>A (p.E903K, p.(Glu903Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718719" "0" "50" "2" "27305025" "27305025" "subst" "2.85472E-5" "02326" "CGREF1_000017" "g.27305025C>T" "" "" "" "EMILIN1(NM_007046.4):c.586C>T (p.R196W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718720" "0" "30" "2" "27305846" "27305846" "subst" "0" "02326" "CGREF1_000018" "g.27305846G>A" "" "" "" "EMILIN1(NM_007046.4):c.1407G>A (p.E469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800554" "0" "30" "2" "27305277" "27305277" "subst" "0" "02326" "CGREF1_000019" "g.27305277G>A" "" "" "" "EMILIN1(NM_007046.4):c.838G>A (p.A280T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800555" "0" "10" "2" "27305314" "27305314" "subst" "0.000519424" "02330" "CGREF1_000020" "g.27305314G>A" "" "" "" "EMILIN1(NM_007046.4):c.875G>A (p.R292Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800556" "0" "10" "2" "27305610" "27305610" "subst" "0.000919489" "02330" "CGREF1_000021" "g.27305610G>T" "" "" "" "EMILIN1(NM_007046.4):c.1171G>T (p.A391S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800557" "0" "30" "2" "27308667" "27308667" "subst" "8.25914E-6" "02326" "CGREF1_000022" "g.27308667C>T" "" "" "" "EMILIN1(NM_007046.4):c.2835C>T (p.S945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885109" "0" "10" "2" "27306455" "27306455" "subst" "0.00676198" "02330" "CGREF1_000025" "g.27306455C>T" "" "" "" "EMILIN1(NM_007046.4):c.2016C>T (p.G672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000904738" "3" "90" "2" "27302084" "27302084" "del" "0" "00006" "EMILIN1_000008" "g.27302084del" "" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "" "" "NMD of mRNA" "Germline" "yes" "" "0" "" "" "g.27079216del" "VCV001527981.1" "pathogenic (recessive)" "" "0000904739" "3" "90" "2" "27302084" "27302084" "del" "0" "00006" "EMILIN1_000008" "g.27302084del" "" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "" "" "NMD of mRNA" "Germline" "yes" "" "0" "" "" "g.27079216del" "VCV001527981.1" "pathogenic (recessive)" "" "0000904740" "3" "90" "2" "27305270" "27305270" "dup" "0" "00006" "EMILIN1_000006" "g.27305270dup" "" "Beyens ESHG2020 C29.3, {PMID:Adamo 2022:36351433}" "" "831dupA" "NMD of mRNA" "Germline" "yes" "" "0" "" "" "g.27082402dup" "VCV001527980.1" "pathogenic (recessive)" "" "0000904741" "3" "90" "2" "27306045" "27306045" "subst" "0" "00006" "EMILIN1_000009" "g.27306045C>T" "" "{PMID:Adamo 2022:36351433}" "" "" "" "Germline" "" "" "0" "" "" "g.27306045C>T" "VCV001343813.1" "pathogenic (recessive)" "" "0000928584" "0" "30" "2" "27306625" "27306625" "subst" "4.47755E-5" "02327" "CGREF1_000026" "g.27306625G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947822" "0" "30" "2" "27306224" "27306224" "subst" "8.17548E-6" "02329" "CGREF1_000027" "g.27306224T>C" "" "" "" "EMILIN1(NM_007046.4):c.1785T>C (p.L595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947823" "0" "10" "2" "27306455" "27306455" "subst" "0.00676198" "02329" "CGREF1_000025" "g.27306455C>T" "" "" "" "EMILIN1(NM_007046.4):c.2016C>T (p.G672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962052" "0" "30" "2" "27302125" "27302125" "subst" "0.000306752" "02329" "EMILIN1_000010" "g.27302125C>T" "" "" "" "EMILIN1(NM_007046.4):c.170+22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962053" "0" "30" "2" "27305282" "27305282" "subst" "2.68197E-5" "02329" "CGREF1_000028" "g.27305282A>G" "" "" "" "EMILIN1(NM_007046.4):c.843A>G (p.S281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962054" "0" "30" "2" "27305360" "27305360" "subst" "0.00091756" "02329" "EMILIN1_000002" "g.27305360C>T" "" "" "" "EMILIN1(NM_007046.4):c.921C>T (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962055" "0" "10" "2" "27305444" "27305444" "subst" "0.00272695" "02329" "CGREF1_000029" "g.27305444G>A" "" "" "" "EMILIN1(NM_007046.4):c.1005G>A (p.E335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962056" "0" "10" "2" "27305611" "27305611" "subst" "0.00237317" "02329" "CGREF1_000015" "g.27305611C>A" "" "" "" "EMILIN1(NM_007046.4):c.1172C>A (p.A391E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962057" "0" "10" "2" "27306683" "27306683" "subst" "0.00335362" "02329" "CGREF1_000030" "g.27306683C>A" "" "" "" "EMILIN1(NM_007046.4):c.2244C>A (p.R748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962058" "0" "30" "2" "27307407" "27307407" "subst" "0.000244424" "02329" "CGREF1_000031" "g.27307407C>T" "" "" "" "EMILIN1(NM_007046.4):c.2557+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962059" "0" "30" "2" "27307514" "27307514" "subst" "0" "02329" "CGREF1_000032" "g.27307514G>A" "" "" "" "EMILIN1(NM_007046.4):c.2557+115G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975190" "0" "30" "2" "27302080" "27302080" "subst" "1.02263E-5" "02329" "EMILIN1_000011" "g.27302080C>G" "" "" "" "EMILIN1(NM_007046.4):c.147C>G (p.A49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975191" "0" "30" "2" "27305651" "27305651" "subst" "1.4968E-5" "02329" "CGREF1_000033" "g.27305651C>G" "" "" "" "EMILIN1(NM_007046.4):c.1212C>G (p.A404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975192" "0" "10" "2" "27308020" "27308020" "subst" "0.00258775" "02329" "CGREF1_000010" "g.27308020C>A" "" "" "" "EMILIN1(NM_007046.4):c.2576-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000992786" "0" "30" "2" "27303034" "27303034" "subst" "0.000174761" "02329" "EMILIN1_000012" "g.27303034C>T" "" "" "" "EMILIN1(NM_007046.4):c.186C>T (p.Y62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992787" "0" "30" "2" "27305120" "27305120" "subst" "0.000237536" "02329" "CGREF1_000034" "g.27305120G>A" "" "" "" "EMILIN1(NM_007046.4):c.681G>A (p.A227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992788" "0" "30" "2" "27306580" "27306580" "subst" "0" "01804" "CGREF1_000035" "g.27306580A>C" "" "" "" "EMILIN1(NM_007046.3):c.2141A>C (p.(Gln714Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024568" "0" "30" "2" "27306590" "27306590" "subst" "0.000690709" "02329" "CGREF1_000036" "g.27306590C>G" "" "" "" "EMILIN1(NM_007046.4):c.2151C>G (p.A717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024569" "0" "30" "2" "27306701" "27306701" "subst" "0.000149622" "02329" "CGREF1_000037" "g.27306701C>T" "" "" "" "EMILIN1(NM_007046.4):c.2262C>T (p.H754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033239" "0" "30" "2" "27308159" "27308159" "subst" "0.019037" "01804" "CGREF1_000016" "g.27308159G>A" "" "" "" "EMILIN1(NM_007046.4):c.2707G>A (p.E903K, p.(Glu903Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045828" "0" "50" "2" "27306788" "27306788" "subst" "0" "02325" "CGREF1_000038" "g.27306788G>C" "" "" "" "EMILIN1(NM_007046.4):c.2349G>C (p.Q783H)" "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 EMILIN1 ## Count = 51 "{{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}}" "0000245869" "00007073" "10" "446" "0" "446" "0" "c.446=" "r.(=)" "p.(Arg149=)" "" "0000271135" "00007073" "30" "921" "0" "921" "0" "c.921C>T" "r.(?)" "p.(Ala307=)" "" "0000515520" "00007073" "30" "445" "0" "445" "0" "c.445C>A" "r.(?)" "p.(Arg149=)" "" "0000515521" "00007073" "10" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Arg382Gln)" "" "0000515522" "00007073" "30" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559Trp)" "" "0000607883" "00007073" "50" "1692" "0" "1692" "0" "c.1692G>A" "r.(?)" "p.(Ala564=)" "" "0000607884" "00007073" "50" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Arg763Trp)" "" "0000607885" "00007073" "30" "2414" "0" "2414" "0" "c.2414A>G" "r.(?)" "p.(His805Arg)" "" "0000621016" "00007073" "50" "710" "0" "710" "0" "c.710T>G" "r.(?)" "p.(Leu237Arg)" "" "0000621017" "00007073" "30" "2576" "-8" "2576" "-8" "c.2576-8C>A" "r.(=)" "p.(=)" "" "0000654614" "00007073" "30" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Gly450Arg)" "" "0000654615" "00007073" "30" "1622" "0" "1622" "0" "c.1622G>A" "r.(?)" "p.(Arg541Gln)" "" "0000654616" "00007073" "30" "2576" "-8" "2576" "-8" "c.2576-8C>A" "r.(=)" "p.(=)" "" "0000667852" "00007073" "90" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Ala278Serfs*11)" "" "0000667854" "00007073" "90" "2457" "0" "2482" "0" "c.2457_2482dup" "r.(?)" "p.(Gln828Leufs*59)" "" "0000667855" "00007073" "90" "119" "0" "119" "0" "c.119dup" "r.(?)" "p.(Ser40Argfs*34)" "" "0000676606" "00007073" "50" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Trp)" "" "0000676607" "00007073" "10" "1172" "0" "1172" "0" "c.1172C>A" "r.(?)" "p.(Ala391Glu)" "" "0000688729" "00007073" "10" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Glu903Lys)" "" "0000718719" "00007073" "50" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Trp)" "" "0000718720" "00007073" "30" "1407" "0" "1407" "0" "c.1407G>A" "r.(?)" "p.(Glu469=)" "" "0000800554" "00007073" "30" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Ala280Thr)" "" "0000800555" "00007073" "10" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Arg292Gln)" "" "0000800556" "00007073" "10" "1171" "0" "1171" "0" "c.1171G>T" "r.(?)" "p.(Ala391Ser)" "" "0000800557" "00007073" "30" "2835" "0" "2835" "0" "c.2835C>T" "r.(?)" "p.(Ser945=)" "" "0000885109" "00007073" "10" "2016" "0" "2016" "0" "c.2016C>T" "r.(?)" "p.(Gly672=)" "" "0000904738" "00007073" "90" "151" "0" "151" "0" "c.151del" "r.(?)" "p.(Arg51Glyfs*14)" "" "0000904739" "00007073" "90" "151" "0" "151" "0" "c.151del" "r.(?)" "p.(Arg51Glyfs*14)" "" "0000904740" "00007073" "90" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Ala278Serfs*11)" "" "0000904741" "00007073" "90" "1606" "0" "1606" "0" "c.1606C>T" "r.(?)" "p.(Gln536*)" "" "0000928584" "00007073" "30" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729His)" "" "0000947822" "00007073" "30" "1785" "0" "1785" "0" "c.1785T>C" "r.(?)" "p.(=)" "" "0000947823" "00007073" "10" "2016" "0" "2016" "0" "c.2016C>T" "r.(?)" "p.(Gly672=)" "" "0000962052" "00007073" "30" "170" "22" "170" "22" "c.170+22C>T" "r.(=)" "p.(=)" "" "0000962053" "00007073" "30" "843" "0" "843" "0" "c.843A>G" "r.(?)" "p.(=)" "" "0000962054" "00007073" "30" "921" "0" "921" "0" "c.921C>T" "r.(?)" "p.(Ala307=)" "" "0000962055" "00007073" "10" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(=)" "" "0000962056" "00007073" "10" "1172" "0" "1172" "0" "c.1172C>A" "r.(?)" "p.(Ala391Glu)" "" "0000962057" "00007073" "10" "2244" "0" "2244" "0" "c.2244C>A" "r.(?)" "p.(=)" "" "0000962058" "00007073" "30" "2557" "8" "2557" "8" "c.2557+8C>T" "r.(=)" "p.(=)" "" "0000962059" "00007073" "30" "2557" "115" "2557" "115" "c.2557+115G>A" "r.(=)" "p.(=)" "" "0000975190" "00007073" "30" "147" "0" "147" "0" "c.147C>G" "r.(?)" "p.(=)" "" "0000975191" "00007073" "30" "1212" "0" "1212" "0" "c.1212C>G" "r.(?)" "p.(=)" "" "0000975192" "00007073" "10" "2576" "-8" "2576" "-8" "c.2576-8C>A" "r.(=)" "p.(=)" "" "0000992786" "00007073" "30" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(=)" "" "0000992787" "00007073" "30" "681" "0" "681" "0" "c.681G>A" "r.(?)" "p.(=)" "" "0000992788" "00007073" "30" "2141" "0" "2141" "0" "c.2141A>C" "r.(?)" "p.(Gln714Pro)" "" "0001024568" "00007073" "30" "2151" "0" "2151" "0" "c.2151C>G" "r.(?)" "p.(=)" "" "0001024569" "00007073" "30" "2262" "0" "2262" "0" "c.2262C>T" "r.(?)" "p.(=)" "" "0001033239" "00007073" "30" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Glu903Lys)" "" "0001045828" "00007073" "50" "2349" "0" "2349" "0" "c.2349G>C" "r.(?)" "p.(Gln783His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000304411" "0000667852" "0000304413" "0000667854" "0000304413" "0000667855" "0000427380" "0000904738" "0000427381" "0000904739" "0000427382" "0000904740" "0000427383" "0000904741"