### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ECEL1) # 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}}" "ECEL1" "endothelin converting enzyme-like 1" "2" "q37.1" "unknown" "NG_034065.1" "UD_136086704124" "" "https://www.LOVD.nl/ECEL1" "" "1" "3147" "9427" "605896" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ECEL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-22 08:19:38" "00006" "2025-11-13 13:04:16" ## 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}}" "00006843" "ECEL1" "endothelin converting enzyme-like 1" "001" "NM_004826.2" "" "NP_004817.2" "" "" "" "-205" "2654" "2328" "233352532" "233344537" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "03820" "DA5D" "arthrogryposis, distal, type 5d (DA-5D)" "AR" "615065" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ECEL1" "03820" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00248340" "" "" "" "2" "" "00006" "{PMID:Dohrn 2015:25708584}" "5-generation family, 2 affected female fetuses, unaffected heterozygous carrier parents/relatives" "F" "yes" "Sudan" "" "0" "" "" "" "FamPatV1/2" "00248436" "" "" "" "4" "" "00006" "{PMID:McMillin 2013:23261301}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents" "" "no" "India" "" "0" "" "" "Indian;Europe (east)" "Fam1Pat1" "00248437" "" "" "00248436" "1" "" "00006" "{PMID:McMillin 2013:23261301}" "" "" "yes" "India" "" "0" "" "" "Indian" "Fam1Pat2" "00248438" "" "" "00248436" "1" "" "00006" "{PMID:McMillin 2013:23261301}" "" "" "yes" "India" "" "0" "" "" "Indian" "Fam1Pat3" "00248439" "" "" "" "2" "" "00006" "{PMID:McMillin 2013:23261301}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "" "no" "United States" "" "0" "" "" "white" "Fam2Pat1" "00248440" "" "" "00248439" "1" "" "00006" "{PMID:McMillin 2013:23261301}" "" "" "no" "United States" "" "0" "" "" "white" "Fam2Pat2" "00248441" "" "" "" "2" "" "00006" "{PMID:McMillin 2013:23261301}" "2-generation family, 2 affected (2F), unaffected heterozygous carrier parents" "" "no" "United States" "" "0" "" "" "white" "Fam3Pat1" "00248442" "" "" "00248441" "1" "" "00006" "{PMID:McMillin 2013:23261301}" "" "" "no" "United States" "" "0" "" "" "white" "Fam3Pat2" "00248443" "" "" "" "1" "" "00006" "{PMID:McMillin 2013:23261301}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "India" "" "0" "" "" "Indian" "Fam4Pat1" "00248444" "" "" "" "1" "" "00006" "{PMID:McMillin 2013:23261301}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "United States" "" "0" "" "" "white" "Fam5Pat1" "00248445" "" "" "" "4" "" "00006" "{PMID:Dieterich 2013:23236030}" "2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents" "" "yes" "Mali" "" "0" "" "" "Malian" "Fam1Pat1" "00248446" "" "" "00248445" "1" "" "00006" "{PMID:Dieterich 2013:23236030}" "" "" "yes" "Mali" "" "0" "" "" "Malian" "Fam1Pat2" "00248447" "" "" "00248445" "1" "" "00006" "{PMID:Dieterich 2013:23236030}" "" "" "yes" "Mali" "" "0" "" "" "Malian" "Fam1Pat3" "00248449" "" "" "" "2" "" "00006" "{PMID:Dieterich 2013:23236030}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Belgium" "" "0" "" "" "" "Fam2Pat1" "00248450" "" "" "00248449" "1" "" "00006" "{PMID:Dieterich 2013:23236030}" "" "F" "yes" "Belgium" "" "0" "" "" "" "Fam2Pat2" "00248451" "" "" "" "1" "" "00006" "{PMID:Dieterich 2013:23236030}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Martinique" "" "0" "" "" "" "Fam3Pat1" "00248452" "" "" "" "1" "" "00006" "{PMID:Dieterich 2013:23236030}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam4Pat1" "00248453" "" "" "" "2" "" "00006" "{PMID:Dieterich 2013:23236030}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Morocco" "" "0" "" "" "" "Fam5Pat1" "00248454" "" "" "00248453" "1" "" "00006" "{PMID:Dieterich 2013:23236030}" "" "M" "yes" "Morocco" "" "0" "" "" "" "Fam5Pat2" "00248455" "" "" "" "1" "" "00006" "{PMID:Dieterich 2013:23236030}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Lebanon" "" "0" "" "" "" "Fam6Pat1" "00248456" "" "" "" "2" "" "00006" "{PMID:Shaaban 2014:23808592}" "4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "" "yes" "Turkey" "" "0" "" "" "Turkish" "Fam1Pat1" "00248457" "" "" "00248456" "1" "" "00006" "{PMID:Shaaban 2014:23808592}" "" "" "yes" "Turkey" "" "0" "" "" "Turkish" "Fam1Pat2" "00248458" "" "" "" "4" "" "00006" "{PMID:Shaheen 2014:23829171}" "4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat1" "00248459" "" "" "00248458" "1" "" "00006" "{PMID:Shaheen 2014:23829171}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat2" "00248460" "" "" "00248458" "1" "" "00006" "{PMID:Shaheen 2014:23829171}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat3" "00248461" "" "" "00248458" "1" "" "00006" "{PMID:Shaheen 2014:23829171}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat4" "00248462" "" "" "" "2" "" "00006" "{PMID:Shaheen 2014:23829171}" "5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "" "yes" "Egypt" "" "0" "" "" "Upper Egypt" "Fam2Pat1" "00248463" "" "" "00248462" "1" "" "00006" "{PMID:Shaheen 2014:23829171}" "" "" "yes" "Egypt" "" "0" "" "" "Upper Egypt" "Fam2Pat2" "00248464" "" "" "" "3" "" "00006" "{PMID:Shaheen 2014:23829171}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "Fam3Pat1" "00248465" "" "" "00248464" "1" "" "00006" "{PMID:Shaheen 2014:23829171}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "Fam3Pat2" "00248466" "" "" "00248464" "1" "" "00006" "{PMID:Shaheen 2014:23829171}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "Fam3Pat3" "00248467" "" "" "" "2" "" "00006" "{PMID:Barnett 2014:24782201}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "" "no" "Australia;Philippines" "" "0" "" "" "white Australian;Filipino" "Fam1Pat1" "00248468" "" "" "00248467" "1" "" "00006" "{PMID:Barnett 2014:24782201}" "" "" "no" "Australia;Philippines" "" "0" "" "" "white Australian;Filipino" "Fam1Pat2" "00292632" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292633" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307203" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-0968" "00307210" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-1653" "00307228" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D18-0102" "00442659" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat31" "00468838" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468839" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468840" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 42 "{{individualid}}" "{{diseaseid}}" "00248340" "00026" "00248436" "00026" "00248437" "00026" "00248438" "00026" "00248439" "00026" "00248440" "00026" "00248441" "00026" "00248442" "00026" "00248443" "00026" "00248444" "00026" "00248445" "00026" "00248446" "00026" "00248447" "00026" "00248449" "00026" "00248450" "00026" "00248451" "00026" "00248452" "00026" "00248453" "00026" "00248454" "00026" "00248455" "00026" "00248456" "00198" "00248457" "00198" "00248458" "00026" "00248459" "00026" "00248460" "00026" "00248461" "00026" "00248462" "00026" "00248463" "00026" "00248464" "00026" "00248465" "00026" "00248466" "00026" "00248467" "00026" "00248468" "00026" "00292632" "00198" "00292633" "00198" "00307203" "00385" "00307210" "00385" "00307228" "00385" "00442659" "05618" "00468838" "00198" "00468839" "00198" "00468840" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 00385, 03820, 05618 ## Count = 40 "{{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}}" "0000187337" "00026" "00248340" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..." "" "" "" "" "" "" "" "" "DA-5d" "arthrogryposis multiplex congenit" "" "0000187427" "00026" "00248436" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187428" "00026" "00248437" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187429" "00026" "00248438" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187430" "00026" "00248439" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187431" "00026" "00248440" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187432" "00026" "00248441" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187433" "00026" "00248442" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187434" "00026" "00248443" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187435" "00026" "00248444" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187436" "00026" "00248445" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound; unaffected muscle type‐I‐fiber predominance, mild difference in fiber size, moderate lipid storage" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187437" "00026" "00248446" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound; unaffected muscle type‐I‐fiber predominance, mild difference in fiber size, moderate lipid storage" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187438" "00026" "00248447" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187440" "00026" "00248449" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; born at term, breech presentation" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187441" "00026" "00248450" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; reduced fetal movement, born at term" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187442" "00026" "00248451" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; reduced fetal movement, intrauterine growth retardation, born at term, breech presentation; unaffected muscle type‐I‐fiber predominance" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187443" "00026" "00248452" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, born at term" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187444" "00026" "00248453" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, intrauterine growth retardation, born at term; moderate lipid storage unaffected muscle" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187445" "00026" "00248454" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, intrauterine growth retardation, born at term" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187446" "00026" "00248455" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia" "" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187447" "00198" "00248456" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures of knees; camptodactyly, scoliosis, ophthalmoplegia, astigmatism; unremarkable pregnancy, normal amount of amniotic fluid, normal fetal movement, birth weight 3.1 kg; fibrosis affected muscle" "<13y" "" "" "" "" "" "" "" "" "congenital contracture syndrome" "" "0000187448" "00198" "00248457" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures of knees; camptodactyly, scoliosis, ophthalmoplegia, astigmatism; unremarkable pregnancy, born at term, normal fetal movement, birth weight 3.0 kg; fibrosis affected muscle" "<11y" "" "" "" "" "" "" "" "" "congenital contracture syndrome" "" "0000187449" "00026" "00248458" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187450" "00026" "00248459" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus" "<19y" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187451" "00026" "00248460" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; normal pregnancy, born at term" "<17y" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187452" "00026" "00248461" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus" "<6y" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187453" "00026" "00248462" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; reduced fetal movement, abnormal position" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187454" "00026" "00248463" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; reduced fetal movement" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187455" "00026" "00248464" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; breech presentation, C‐section, arthrogryposis multiplexa congenita at birth" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187456" "00026" "00248465" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; arthrogryposis multiplexa congenita at birth" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187457" "00026" "00248466" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; arthrogryposis multiplexa congenita at birth" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187458" "00026" "00248467" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures hips, dislocatable hips, extension contractures knees, adducted thumbs, stiff wrists, camptodactyly, clubfoot, bilateral ptosis, delayed motor milestones, multiple pterygia; noraml ultra-sound, normal fetal movement, breech presentation; 41wGA-C‐section, birth weight 3.8 kg" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000187459" "00026" "00248468" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures hips, dislocatable hips, extension contractures knees, adducted thumbs, stiff wrists, camptodactyly, clubfoot, bilateral ptosis, delayed motor milestones, multiple pterygia; 19wGA-arthrogryposis multiplexa congenita on ultra-sound, abnormal posturing limbs, no movement in knees, clubfoot, hands in clenched position, born at term, birth weight 3.5 kg" "1d" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000233008" "00385" "00307203" "00534" "Familial, autosomal recessive" "" "antenatal onset; arthrogryposis multiplex congenita; unilateral ptosis; nonprogressive muscle weakness" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233015" "00385" "00307210" "00534" "Familial, autosomal recessive" "" "flexion contracture (multiple); aortic root aneurysm; progressive sensorineural hearing impairment; midface retrusion; micrognathia" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233033" "00385" "00307228" "00534" "Familial, autosomal recessive" "" "progressive distal; muscle weakness; lower limb muscle weakness onset (assymetric L>R); elevated serum creatine kinase; myopathy" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000332006" "05618" "00442659" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Delayed motor development, severe scoliosis, muscle atropy" "" "0000353991" "00198" "00468838" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculoskeletal system" "" "0000353992" "00198" "00468839" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000353993" "00198" "00468840" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000249444" "00248340" "1" "00006" "00006" "2019-07-22 08:27:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249540" "00248436" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249541" "00248437" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249542" "00248438" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249543" "00248439" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249544" "00248440" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249545" "00248441" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249546" "00248442" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249547" "00248443" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249548" "00248444" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249549" "00248445" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249550" "00248446" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249551" "00248447" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249553" "00248449" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249554" "00248450" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249555" "00248451" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249556" "00248452" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249557" "00248453" "1" "00006" "00006" "2019-07-23 23:23:22" "00006" "2019-07-23 23:24:01" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000249558" "00248454" "1" "00006" "00006" "2019-07-23 23:23:22" "00006" "2019-07-23 23:24:24" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000249559" "00248455" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249560" "00248456" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249561" "00248457" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249562" "00248458" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249563" "00248459" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249564" "00248460" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249565" "00248461" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249566" "00248462" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249567" "00248463" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249568" "00248464" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249569" "00248465" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249570" "00248466" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249571" "00248467" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249572" "00248468" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293800" "00292632" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293801" "00292633" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308345" "00307203" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308352" "00307210" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308370" "00307228" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000444143" "00442659" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470506" "00468838" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470507" "00468839" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470508" "00468840" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000249444" "ECEL1" "0000249540" "ECEL1" "0000249541" "ECEL1" "0000249542" "ECEL1" "0000249543" "ECEL1" "0000249544" "ECEL1" "0000249545" "ECEL1" "0000249546" "ECEL1" "0000249547" "ECEL1" "0000249548" "ECEL1" "0000249549" "ECEL1" "0000249550" "ECEL1" "0000249551" "ECEL1" "0000249553" "ECEL1" "0000249554" "ECEL1" "0000249555" "ECEL1" "0000249556" "ECEL1" "0000249557" "ECEL1" "0000249558" "ECEL1" "0000249559" "ECEL1" "0000249560" "ECEL1" "0000249561" "ECEL1" "0000249562" "ECEL1" "0000249563" "ECEL1" "0000249564" "ECEL1" "0000249565" "ECEL1" "0000249566" "ECEL1" "0000249567" "ECEL1" "0000249568" "ECEL1" "0000249569" "ECEL1" "0000249570" "ECEL1" "0000249571" "ECEL1" "0000249572" "ECEL1" "0000308345" "ECEL1" "0000308352" "ECEL1" "0000308370" "ECEL1" ## 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 = 101 "{{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}}" "0000250509" "0" "90" "2" "233351033" "233351033" "del" "0" "02329" "ECEL1_000012" "g.233351033del" "" "" "" "ECEL1(NM_004826.4):c.332delT (p.F111Sfs*92)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232486323del" "" "pathogenic" "" "0000265818" "0" "10" "2" "233346569" "233346569" "subst" "0.0252581" "02330" "ECEL1_000006" "g.233346569C>T" "" "" "" "ECEL1(NM_004826.4):c.1797-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232481859C>T" "" "benign" "" "0000265819" "0" "10" "2" "233350938" "233350938" "subst" "0.00801463" "02330" "ECEL1_000011" "g.233350938G>T" "" "" "" "ECEL1(NM_001290787.1):c.426C>A (p.(Asp142Glu)), ECEL1(NM_004826.4):c.426C>A (p.D142E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232486228G>T" "" "benign" "" "0000265820" "0" "10" "2" "233349588" "233349588" "subst" "0.984836" "02330" "ECEL1_000009" "g.233349588G>A" "" "" "" "ECEL1(NM_004826.4):c.982C>T (p.H328Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232484878G>A" "" "benign" "" "0000275893" "0" "90" "2" "233345833" "233345833" "subst" "0" "01943" "ECEL1_000003" "g.233345833C>T" "" "" "" "ECEL1(NM_004826.3):c.2023G>A (p.A675T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232481123C>T" "" "pathogenic" "" "0000328161" "0" "50" "2" "233345111" "233345111" "subst" "0.00022748" "01804" "ECEL1_000001" "g.233345111G>A" "" "" "" "ECEL1(NM_004826.2):c.2226C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232480401G>A" "" "VUS" "" "0000328162" "0" "30" "2" "233345170" "233345170" "subst" "1.62583E-5" "01804" "ECEL1_000002" "g.233345170G>A" "" "" "" "ECEL1(NM_004826.2):c.2167C>T (p.(Arg723Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232480460G>A" "" "likely benign" "" "0000328164" "0" "30" "2" "233346498" "233346498" "subst" "0.0116586" "01804" "ECEL1_000005" "g.233346498C>T" "" "" "" "ECEL1(NM_001290787.1):c.1852G>A (p.(Asp618Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232481788C>T" "" "likely benign" "" "0000328165" "0" "30" "2" "233348875" "233348875" "subst" "1.22305E-5" "01804" "ECEL1_000007" "g.233348875G>A" "" "" "" "ECEL1(NM_004826.2):c.1243C>T (p.(Pro415Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232484165G>A" "" "likely benign" "" "0000328166" "0" "50" "2" "233348907" "233348907" "subst" "0" "01804" "ECEL1_000008" "g.233348907C>G" "" "" "" "ECEL1(NM_004826.2):c.1211G>C (p.(Arg404Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232484197C>G" "" "VUS" "" "0000328167" "0" "30" "2" "233349610" "233349610" "subst" "0.00882207" "01804" "ECEL1_000010" "g.233349610G>C" "" "" "" "ECEL1(NM_004826.2):c.967-7C>G (p.(=)), ECEL1(NM_004826.4):c.967-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232484900G>C" "" "likely benign" "" "0000328168" "0" "50" "2" "233351209" "233351209" "subst" "0.00333302" "01804" "ECEL1_000013" "g.233351209A>G" "" "" "" "ECEL1(NM_004826.2):c.155T>C (p.(Leu52Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232486499A>G" "" "VUS" "" "0000343202" "0" "90" "2" "233346272" "233346272" "subst" "1.22135E-5" "02327" "ECEL1_000014" "g.233346272G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232481562G>A" "" "pathogenic" "" "0000348854" "0" "70" "2" "233350645" "233350645" "subst" "0" "02327" "ECEL1_000016" "g.233350645C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232485935C>A" "" "likely pathogenic" "" "0000349809" "0" "90" "2" "233348162" "233348162" "subst" "3.67593E-5" "02327" "ECEL1_000015" "g.233348162C>T" "" "" "" "ECEL1(NM_004826.4):c.1470G>A (p.W490*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232483452C>T" "" "pathogenic" "" "0000515066" "0" "50" "2" "233344925" "233344925" "subst" "0.000248012" "01804" "ECEL1_000017" "g.233344925G>A" "" "" "" "ECEL1(NM_004826.2):c.2266C>T (p.(Arg756Trp)), ECEL1(NM_004826.3):c.2266C>T (p.R756W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232480215G>A" "" "VUS" "" "0000515067" "0" "30" "2" "233347148" "233347148" "subst" "4.87563E-5" "01943" "ECEL1_000018" "g.233347148C>T" "" "" "" "ECEL1(NM_004826.3):c.1776G>A (p.L592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232482438C>T" "" "likely benign" "" "0000515068" "0" "10" "2" "233347590" "233347590" "subst" "0.00353729" "02330" "ECEL1_000019" "g.233347590C>T" "" "" "" "ECEL1(NM_004826.3):c.1656G>A (p.K552=), ECEL1(NM_004826.4):c.1656G>A (p.K552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232482880C>T" "" "benign" "" "0000515069" "0" "10" "2" "233348114" "233348114" "subst" "0.00296704" "02330" "ECEL1_000020" "g.233348114G>A" "" "" "" "ECEL1(NM_004826.4):c.1506+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232483404G>A" "" "benign" "" "0000515071" "0" "30" "2" "233348851" "233348851" "subst" "0.0143079" "01804" "ECEL1_000021" "g.233348851C>G" "" "" "" "ECEL1(NM_001290787.1):c.1267G>C (p.(Glu423Gln)), ECEL1(NM_004826.4):c.1267G>C (p.E423Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232484141C>G" "" "likely benign" "" "0000515072" "0" "50" "2" "233349198" "233349198" "subst" "0" "01943" "ECEL1_000022" "g.233349198G>T" "" "" "" "ECEL1(NM_004826.3):c.1168C>A (p.R390S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232484488G>T" "" "VUS" "" "0000515073" "0" "30" "2" "233350938" "233350938" "subst" "0.00801463" "01804" "ECEL1_000011" "g.233350938G>T" "" "" "" "ECEL1(NM_001290787.1):c.426C>A (p.(Asp142Glu)), ECEL1(NM_004826.4):c.426C>A (p.D142E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232486228G>T" "" "likely benign" "" "0000578227" "3" "90" "2" "233345833" "233345833" "subst" "0" "00006" "ECEL1_000003" "g.233345833C>T" "" "{PMID:Dohrn 2015:25708584}" "" "" "" "Germline" "yes" "" "0" "" "" "g.232481123C>T" "" "pathogenic (recessive)" "" "0000578332" "1" "90" "2" "233350648" "233350648" "dup" "0" "00006" "ECEL1_000041" "g.233350648dup" "" "{PMID:McMillin 2013:23261301}" "" "716dupA" "" "Germline" "" "" "0" "" "" "g.232485938dup" "" "pathogenic (recessive)" "" "0000578333" "3" "90" "2" "233350648" "233350648" "dup" "0" "00006" "ECEL1_000041" "g.233350648dup" "" "{PMID:McMillin 2013:23261301}" "" "716dupA" "" "Germline" "" "" "0" "" "" "g.232485938dup" "" "pathogenic (recessive)" "" "0000578334" "3" "90" "2" "233350648" "233350648" "dup" "0" "00006" "ECEL1_000041" "g.233350648dup" "" "{PMID:McMillin 2013:23261301}" "" "716dupA" "" "Germline" "" "" "0" "" "" "g.232485938dup" "" "pathogenic (recessive)" "" "0000578335" "1" "90" "2" "233349788" "233349788" "subst" "0" "00006" "ECEL1_000039" "g.233349788T>C" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232485078T>C" "" "pathogenic (recessive)" "" "0000578336" "1" "90" "2" "233349788" "233349788" "subst" "0" "00006" "ECEL1_000039" "g.233349788T>C" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232485078T>C" "" "pathogenic (recessive)" "" "0000578337" "1" "90" "2" "233348866" "233348866" "subst" "0" "00006" "ECEL1_000029" "g.233348866G>T" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232484156G>T" "" "pathogenic (recessive)" "" "0000578338" "1" "90" "2" "233348866" "233348866" "subst" "0" "00006" "ECEL1_000029" "g.233348866G>T" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232484156G>T" "" "pathogenic (recessive)" "" "0000578339" "3" "90" "2" "233349182" "233349182" "subst" "0" "00006" "ECEL1_000034" "g.233349182C>T" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232484472C>T" "" "pathogenic (recessive)" "" "0000578340" "1" "90" "2" "233350774" "233350774" "subst" "0" "00006" "ECEL1_000042" "g.233350774C>T" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232486064C>T" "" "pathogenic (recessive)" "" "0000578341" "3" "90" "2" "233344913" "233344913" "subst" "0" "00006" "ECEL1_000023" "g.233344913A>G" "" "{PMID:Dieterich 2013:23236030}" "" "2278C>T" "" "Germline" "" "" "0" "" "" "g.232480203A>G" "" "pathogenic (recessive)" "" "0000578342" "3" "90" "2" "233344913" "233344913" "subst" "0" "00006" "ECEL1_000023" "g.233344913A>G" "" "{PMID:Dieterich 2013:23236030}" "" "2278C>T" "" "Germline" "" "" "0" "" "" "g.232480203A>G" "" "pathogenic (recessive)" "" "0000578343" "3" "90" "2" "233344913" "233344913" "subst" "0" "00006" "ECEL1_000023" "g.233344913A>G" "" "{PMID:Dieterich 2013:23236030}" "" "2278C>T" "" "Germline" "" "" "0" "" "" "g.232480203A>G" "" "pathogenic (recessive)" "" "0000578344" "3" "90" "2" "233347597" "233347597" "subst" "0" "00006" "ECEL1_000027" "g.233347597G>C" "" "{PMID:Dieterich 2013:23236030}" "" "" "" "Germline" "" "" "0" "" "" "g.232482887G>C" "" "pathogenic (recessive)" "" "0000578345" "3" "90" "2" "233347597" "233347597" "subst" "0" "00006" "ECEL1_000027" "g.233347597G>C" "" "{PMID:Dieterich 2013:23236030}" "" "" "" "Germline" "" "" "0" "" "" "g.232482887G>C" "" "pathogenic (recessive)" "" "0000578346" "1" "90" "2" "233349573" "233349573" "subst" "3.25193E-5" "00006" "ECEL1_000036" "g.233349573G>A" "" "{PMID:Dieterich 2013:23236030}" "" "" "" "Germline" "" "" "0" "" "" "g.232484863G>A" "" "pathogenic (recessive)" "" "0000578347" "3" "90" "2" "233349785" "233349785" "del" "0" "00006" "ECEL1_000038" "g.233349785del" "" "{PMID:Dieterich 2013:23236030}" "" "874delG" "" "Germline" "" "" "0" "" "" "g.232485075del" "" "pathogenic (recessive)" "" "0000578348" "3" "90" "2" "233347560" "233347560" "subst" "0" "00006" "ECEL1_000026" "g.233347560C>A" "" "{PMID:Dieterich 2013:23236030}" "" "" "" "Germline" "" "" "0" "" "" "g.232482850C>A" "" "pathogenic (recessive)" "" "0000578349" "3" "90" "2" "233347560" "233347560" "subst" "0" "00006" "ECEL1_000026" "g.233347560C>A" "" "{PMID:Dieterich 2013:23236030}" "" "" "" "Germline" "" "" "0" "" "" "g.232482850C>A" "" "pathogenic (recessive)" "" "0000578350" "3" "90" "2" "233349690" "233349690" "subst" "0" "00006" "ECEL1_000037" "g.233349690C>T" "" "{PMID:Dieterich 2013:23236030}" "" "" "" "Germline" "" "" "0" "" "" "g.232484980C>T" "" "pathogenic (recessive)" "" "0000578351" "3" "90" "2" "233346537" "233346537" "subst" "0" "00006" "ECEL1_000024" "g.233346537C>T" "" "{PMID:Shaaban 2014:23808592}" "" "" "" "Germline" "" "" "0" "" "" "g.232481827C>T" "" "pathogenic (recessive)" "" "0000578352" "3" "90" "2" "233346537" "233346537" "subst" "0" "00006" "ECEL1_000024" "g.233346537C>T" "" "{PMID:Shaaban 2014:23808592}" "" "" "" "Germline" "" "" "0" "" "" "g.232481827C>T" "" "pathogenic (recessive)" "" "0000578353" "3" "90" "2" "233348903" "233348905" "dup" "0" "00006" "ECEL1_000031" "g.233348903_233348905dup" "" "{PMID:Shaheen 2014:23829171}" "" "" "" "Germline" "" "" "0" "" "" "g.232484193_232484195dup" "" "pathogenic (recessive)" "" "0000578354" "3" "90" "2" "233348903" "233348905" "dup" "0" "00006" "ECEL1_000031" "g.233348903_233348905dup" "" "{PMID:Shaheen 2014:23829171}" "" "" "" "Germline" "" "" "0" "" "" "g.232484193_232484195dup" "" "pathogenic (recessive)" "" "0000578355" "3" "90" "2" "233348903" "233348905" "dup" "0" "00006" "ECEL1_000031" "g.233348903_233348905dup" "" "{PMID:Shaheen 2014:23829171}" "" "" "" "Germline" "" "" "0" "" "" "g.232484193_232484195dup" "" "pathogenic (recessive)" "" "0000578356" "3" "90" "2" "233348903" "233348905" "dup" "0" "00006" "ECEL1_000031" "g.233348903_233348905dup" "" "{PMID:Shaheen 2014:23829171}" "" "" "" "Germline" "" "" "0" "" "" "g.232484193_232484195dup" "" "pathogenic (recessive)" "" "0000578357" "3" "90" "2" "233349518" "233349518" "dup" "0" "00006" "ECEL1_000035" "g.233349518dup" "" "{PMID:Shaheen 2014:23829171}" "" "1057dupC" "" "Germline" "" "" "0" "" "" "g.232484808dup" "" "pathogenic (recessive)" "" "0000578358" "3" "90" "2" "233349518" "233349518" "dup" "0" "00006" "ECEL1_000035" "g.233349518dup" "" "{PMID:Shaheen 2014:23829171}" "" "1057dupC" "" "Germline" "" "" "0" "" "" "g.232484808dup" "" "pathogenic (recessive)" "" "0000578359" "3" "90" "2" "233348908" "233348908" "subst" "1.2298E-5" "00006" "ECEL1_000032" "g.233348908G>A" "" "{PMID:Shaheen 2014:23829171}" "" "" "" "Germline" "" "" "0" "" "" "g.232484198G>A" "" "pathogenic (recessive)" "" "0000578360" "3" "90" "2" "233348908" "233348908" "subst" "1.2298E-5" "00006" "ECEL1_000032" "g.233348908G>A" "" "{PMID:Shaheen 2014:23829171}" "" "" "" "Germline" "" "" "0" "" "" "g.232484198G>A" "" "pathogenic (recessive)" "" "0000578361" "3" "90" "2" "233348908" "233348908" "subst" "1.2298E-5" "00006" "ECEL1_000032" "g.233348908G>A" "" "{PMID:Shaheen 2014:23829171}" "" "" "" "Germline" "" "" "0" "" "" "g.232484198G>A" "" "pathogenic (recessive)" "" "0000578362" "1" "90" "2" "233347865" "233347865" "subst" "0" "00006" "ECEL1_000028" "g.233347865C>T" "" "{PMID:Barnett 2014:24782201}" "" "" "" "Germline" "" "" "0" "" "" "g.232483155C>T" "" "pathogenic (recessive)" "" "0000578363" "1" "90" "2" "233347865" "233347865" "subst" "0" "00006" "ECEL1_000028" "g.233347865C>T" "" "{PMID:Barnett 2014:24782201}" "" "" "" "Germline" "" "" "0" "" "" "g.232483155C>T" "" "pathogenic (recessive)" "" "0000578364" "2" "90" "2" "233349179" "233349179" "subst" "0" "00006" "ECEL1_000033" "g.233349179T>A" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232484469T>A" "" "pathogenic (recessive)" "" "0000578365" "2" "90" "2" "233349179" "233349179" "subst" "0" "00006" "ECEL1_000033" "g.233349179T>A" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232484469T>A" "" "pathogenic (recessive)" "" "0000578366" "2" "90" "2" "233348866" "233348866" "subst" "4.07544E-6" "00006" "ECEL1_000030" "g.233348866G>A" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232484156G>A" "" "pathogenic (recessive)" "" "0000578367" "2" "90" "2" "233348162" "233348162" "subst" "3.67593E-5" "00006" "ECEL1_000015" "g.233348162C>T" "" "{PMID:Dieterich 2013:23236030}" "" "" "" "Germline" "" "" "0" "" "" "g.232483452C>T" "" "pathogenic (recessive)" "" "0000578368" "2" "90" "2" "233346560" "233346560" "subst" "0" "00006" "ECEL1_000025" "g.233346560C>T" "" "{PMID:Barnett 2014:24782201}" "" "" "" "Germline" "" "" "0" "" "" "g.232481850C>T" "" "pathogenic (recessive)" "" "0000578369" "2" "90" "2" "233346560" "233346560" "subst" "0" "00006" "ECEL1_000025" "g.233346560C>T" "" "{PMID:Barnett 2014:24782201}" "" "" "" "Germline" "" "" "0" "" "" "g.232481850C>T" "" "pathogenic (recessive)" "" "0000578370" "2" "90" "2" "233351014" "233351025" "del" "0" "00006" "ECEL1_000043" "g.233351014_233351025del" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232486304_232486315del" "" "pathogenic (recessive)" "" "0000578371" "2" "90" "2" "233349963" "233349967" "del" "0" "00006" "ECEL1_000040" "g.233349963_233349967delinsAGC" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232485253_232485257delinsAGC" "" "pathogenic (recessive)" "" "0000578372" "2" "90" "2" "233349963" "233349967" "del" "0" "00006" "ECEL1_000040" "g.233349963_233349967delinsAGC" "" "{PMID:McMillin 2013:23261301}" "" "" "" "Germline" "" "" "0" "" "" "g.232485253_232485257delinsAGC" "" "pathogenic (recessive)" "" "0000607816" "0" "10" "2" "233348851" "233348851" "subst" "0.0143079" "02330" "ECEL1_000021" "g.233348851C>G" "" "" "" "ECEL1(NM_001290787.1):c.1267G>C (p.(Glu423Gln)), ECEL1(NM_004826.4):c.1267G>C (p.E423Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232484141C>G" "" "benign" "" "0000607817" "0" "30" "2" "233349904" "233349904" "subst" "0" "01804" "ECEL1_000044" "g.233349904A>G" "" "" "" "ECEL1(NM_004826.2):c.855+5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232485194A>G" "" "likely benign" "" "0000650489" "1" "90" "2" "233348908" "233348908" "subst" "1.2298E-5" "03575" "ECEL1_000032" "g.233348908G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs532757890}" "Germline" "" "rs532757890" "0" "" "" "g.232484198G>A" "" "pathogenic" "" "0000650490" "1" "90" "2" "233349573" "233349573" "subst" "3.25193E-5" "03575" "ECEL1_000036" "g.233349573G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs370167241}" "Germline" "" "rs370167241" "0" "" "" "g.232484863G>A" "" "pathogenic" "" "0000675303" "3" "70" "2" "233348779" "233348779" "subst" "8.1322E-6" "00534" "ECEL1_000047" "g.233348779G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.232484069G>A" "" "likely pathogenic (recessive)" "ACMG" "0000675310" "1" "90" "2" "233351209" "233351254" "del" "0.000374007" "00534" "ECEL1_000049" "g.233351209_233351254del" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.232486499_232486544del" "" "pathogenic (recessive)" "ACMG" "0000675328" "3" "70" "2" "233348225" "233348225" "subst" "0" "00534" "ECEL1_000045" "g.233348225C>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.232483515C>A" "" "likely pathogenic (recessive)" "ACMG" "0000675355" "2" "70" "2" "233350775" "233350775" "subst" "0" "00534" "ECEL1_000048" "g.233350775C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.232486065C>T" "" "likely pathogenic (recessive)" "ACMG" "0000676549" "0" "50" "2" "233344925" "233344925" "subst" "0.000248012" "01943" "ECEL1_000017" "g.233344925G>A" "" "" "" "ECEL1(NM_004826.2):c.2266C>T (p.(Arg756Trp)), ECEL1(NM_004826.3):c.2266C>T (p.R756W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676550" "0" "30" "2" "233348778" "233348778" "subst" "3.65988E-5" "01943" "ECEL1_000046" "g.233348778C>T" "" "" "" "ECEL1(NM_004826.3):c.1340G>A (p.R447H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688694" "0" "30" "2" "233347590" "233347590" "subst" "0.00353729" "01943" "ECEL1_000019" "g.233347590C>T" "" "" "" "ECEL1(NM_004826.3):c.1656G>A (p.K552=), ECEL1(NM_004826.4):c.1656G>A (p.K552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688695" "0" "50" "2" "233350644" "233350644" "subst" "0.00226619" "01943" "ECEL1_000050" "g.233350644G>T" "" "" "" "ECEL1(NM_004826.3):c.720C>A (p.S240R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718616" "0" "90" "2" "233348162" "233348162" "subst" "3.67593E-5" "02329" "ECEL1_000015" "g.233348162C>T" "" "" "" "ECEL1(NM_004826.4):c.1470G>A (p.W490*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718617" "0" "10" "2" "233349610" "233349610" "subst" "0.00882207" "02330" "ECEL1_000010" "g.233349610G>C" "" "" "" "ECEL1(NM_004826.2):c.967-7C>G (p.(=)), ECEL1(NM_004826.4):c.967-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718618" "0" "50" "2" "233351080" "233351080" "subst" "2.32078E-5" "02329" "ECEL1_000051" "g.233351080C>T" "" "" "" "ECEL1(NM_004826.4):c.284G>A (p.C95Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849794" "0" "10" "2" "233345861" "233345861" "subst" "0.0154648" "02330" "ECEL1_000052" "g.233345861G>A" "" "" "" "ECEL1(NM_004826.4):c.1995C>T (p.N665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858406" "0" "50" "2" "233346298" "233346298" "subst" "1.62752E-5" "02327" "ECEL1_000053" "g.233346298G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923655" "0" "70" "2" "233344880" "233344880" "subst" "4.47773E-5" "02325" "ECEL1_000054" "g.233344880T>C" "" "" "" "ECEL1(NM_004826.4):c.2311A>G (p.K771E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923656" "0" "90" "2" "233351033" "233351033" "del" "0" "02325" "ECEL1_000012" "g.233351033del" "" "" "" "ECEL1(NM_004826.4):c.332delT (p.F111Sfs*92)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946000" "3" "90" "2" "233348162" "233348162" "subst" "3.67593E-5" "00006" "ECEL1_000015" "g.233348162C>T" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.232483452C>T" "" "pathogenic (recessive)" "" "0000975086" "0" "50" "2" "233347167" "233347167" "subst" "0" "01804" "ECEL1_000055" "g.233347167C>T" "" "" "" "ECEL1(NM_004826.4):c.1757G>A (p.(Gly586Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975087" "0" "50" "2" "233348181" "233348181" "subst" "8.17027E-6" "02325" "ECEL1_000056" "g.233348181C>T" "" "" "" "ECEL1(NM_004826.4):c.1451G>A (p.R484H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975088" "0" "50" "2" "233348884" "233348884" "subst" "0" "01804" "ECEL1_000057" "g.233348884G>A" "" "" "" "ECEL1(NM_004826.4):c.1234C>T (p.(His412Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013685" "0" "30" "2" "233348215" "233348215" "subst" "0.000411024" "02326" "ECEL1_000058" "g.233348215G>A" "" "" "" "ECEL1(NM_004826.4):c.1417C>T (p.L473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033099" "0" "50" "2" "233345166" "233345166" "subst" "2.43843E-5" "01804" "ECEL1_000059" "g.233345166C>T" "" "" "" "ECEL1(NM_004826.4):c.2171G>A (p.(Arg724Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033100" "0" "50" "2" "233346337" "233346337" "subst" "0.000924516" "01804" "ECEL1_000060" "g.233346337C>G" "" "" "" "ECEL1(NM_004826.4):c.1868G>C (p.(Gly623Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033101" "0" "50" "2" "233347304" "233347304" "subst" "2.0433E-5" "01804" "ECEL1_000061" "g.233347304G>C" "" "" "" "ECEL1(NM_004826.4):c.1700C>G (p.(Pro567Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033102" "0" "50" "2" "233347838" "233347838" "subst" "0" "01804" "ECEL1_000062" "g.233347838C>T" "" "" "" "ECEL1(NM_004826.4):c.1558G>A (p.(Asp520Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033103" "0" "50" "2" "233348182" "233348182" "subst" "8.58903E-5" "01804" "ECEL1_000063" "g.233348182G>A" "" "" "" "ECEL1(NM_004826.4):c.1450C>T (p.(Arg484Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033104" "0" "50" "2" "233350871" "233350871" "subst" "0" "01804" "ECEL1_000064" "g.233350871G>T" "" "" "" "ECEL1(NM_004826.4):c.493C>A (p.(Leu165Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033105" "0" "90" "2" "233351216" "233351261" "del" "0" "01804" "ECEL1_000049" "g.233351216_233351261del" "" "" "" "ECEL1(NM_004826.4):c.110_155del (p.(Phe37CysfsTer151))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051129" "0" "50" "2" "233346325" "233346325" "subst" "4.06928E-6" "01804" "ECEL1_000065" "g.233346325C>G" "" "" "" "ECEL1(NM_004826.4):c.1880G>C (p.(Arg627Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051130" "0" "90" "2" "233350870" "233350870" "subst" "3.87074E-5" "01804" "ECEL1_000066" "g.233350870A>G" "" "" "" "ECEL1(NM_004826.4):c.494T>C (p.(Leu165Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051131" "0" "50" "2" "233351162" "233351162" "subst" "0" "01804" "ECEL1_000067" "g.233351162A>G" "" "" "" "ECEL1(NM_004826.4):c.202T>C (p.(Phe68Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058628" "0" "90" "2" "233348935" "233348935" "subst" "0" "00006" "ECEL1_000069" "g.233348935T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.232484225T>C" "" "pathogenic" "" "0001058629" "0" "90" "2" "233349573" "233349573" "subst" "3.25193E-5" "00006" "ECEL1_000036" "g.233349573G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.232484863G>A" "" "pathogenic" "" "0001058630" "0" "70" "2" "233348909" "233348909" "subst" "0" "00006" "ECEL1_000068" "g.233348909C>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.232484199C>A" "" "likely pathogenic" "" ## 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 ECEL1 ## Count = 101 "{{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}}" "0000250509" "00006843" "90" "332" "0" "332" "0" "c.332del" "r.(?)" "p.(Phe111SerfsTer92)" "" "0000265818" "00006843" "10" "1797" "-10" "1797" "-10" "c.1797-10G>A" "r.(=)" "p.(=)" "" "0000265819" "00006843" "10" "426" "0" "426" "0" "c.426C>A" "r.(?)" "p.(Asp142Glu)" "" "0000265820" "00006843" "10" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(His328Tyr)" "" "0000275893" "00006843" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Ala675Thr)" "" "0000328161" "00006843" "50" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Tyr742=)" "" "0000328162" "00006843" "30" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Arg723Trp)" "" "0000328164" "00006843" "30" "1858" "0" "1858" "0" "c.1858G>A" "r.(?)" "p.(Asp620Asn)" "" "0000328165" "00006843" "30" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Pro415Ser)" "" "0000328166" "00006843" "50" "1211" "0" "1211" "0" "c.1211G>C" "r.(?)" "p.(Arg404Pro)" "" "0000328167" "00006843" "30" "967" "-7" "967" "-7" "c.967-7C>G" "r.(=)" "p.(=)" "" "0000328168" "00006843" "50" "155" "0" "155" "0" "c.155T>C" "r.(?)" "p.(Leu52Pro)" "" "0000343202" "00006843" "90" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Arg645Ter)" "" "0000348854" "00006843" "70" "719" "0" "719" "0" "c.719G>T" "r.(?)" "p.(Ser240Ile)" "" "0000349809" "00006843" "90" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Trp490Ter)" "" "0000515066" "00006843" "50" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756Trp)" "" "0000515067" "00006843" "30" "1776" "0" "1776" "0" "c.1776G>A" "r.(?)" "p.(Leu592=)" "" "0000515068" "00006843" "10" "1656" "0" "1656" "0" "c.1656G>A" "r.(?)" "p.(Lys552=)" "" "0000515069" "00006843" "10" "1506" "12" "1506" "12" "c.1506+12C>T" "r.(=)" "p.(=)" "" "0000515071" "00006843" "30" "1267" "0" "1267" "0" "c.1267G>C" "r.(?)" "p.(Glu423Gln)" "" "0000515072" "00006843" "50" "1168" "0" "1168" "0" "c.1168C>A" "r.(?)" "p.(Arg390Ser)" "" "0000515073" "00006843" "30" "426" "0" "426" "0" "c.426C>A" "r.(?)" "p.(Asp142Glu)" "" "0000578227" "00006843" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Ala675Thr)" "" "0000578332" "00006843" "90" "716" "0" "716" "0" "c.716dup" "r.(?)" "p.(Tyr239*)" "2" "0000578333" "00006843" "90" "716" "0" "716" "0" "c.716dup" "r.(?)" "p.(Tyr239*)" "2" "0000578334" "00006843" "90" "716" "0" "716" "0" "c.716dup" "r.(?)" "p.(Tyr239*)" "2" "0000578335" "00006843" "90" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Tyr290Cys)" "4" "0000578336" "00006843" "90" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Tyr290Cys)" "4" "0000578337" "00006843" "90" "1252" "0" "1252" "0" "c.1252C>A" "r.(?)" "p.(Arg418Ser)" "7" "0000578338" "00006843" "90" "1252" "0" "1252" "0" "c.1252C>A" "r.(?)" "p.(Arg418Ser)" "7" "0000578339" "00006843" "90" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Arg395Gln)" "6" "0000578340" "00006843" "90" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Gly197Asp)" "2" "0000578341" "00006843" "90" "2278" "0" "2278" "0" "c.2278T>C" "r.(?)" "p.(Cys760Arg)" "18" "0000578342" "00006843" "90" "2278" "0" "2278" "0" "c.2278T>C" "r.(?)" "p.(Cys760Arg)" "18" "0000578343" "00006843" "90" "2278" "0" "2278" "0" "c.2278T>C" "r.(?)" "p.(Cys760Arg)" "18" "0000578344" "00006843" "90" "1649" "0" "1649" "0" "c.1649C>G" "r.(?)" "p.(Ser550*)" "10" "0000578345" "00006843" "90" "1649" "0" "1649" "0" "c.1649C>G" "r.(?)" "p.(Ser550*)" "10" "0000578346" "00006843" "90" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333*)" "5" "0000578347" "00006843" "90" "874" "0" "874" "0" "c.874del" "r.(?)" "p.(Val292Cysfs*51)" "4" "0000578348" "00006843" "90" "1685" "1" "1685" "1" "c.1685+1G>T" "r.[1672_1685del,1651_1685del]" "p.[Lys552Alafs*33,Asp559Alafs*33]" "10i" "0000578349" "00006843" "90" "1685" "1" "1685" "1" "c.1685+1G>T" "r.[1672_1685del,1651_1685del]" "p.[Lys552Alafs*33,Asp559Alafs*33]" "10i" "0000578350" "00006843" "90" "966" "1" "966" "1" "c.966+1G>A" "r.spl" "p.(Asp559Alafs*33)" "4i" "0000578351" "00006843" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Ser)" "13" "0000578352" "00006843" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Ser)" "13" "0000578353" "00006843" "90" "1221" "0" "1223" "0" "c.1221_1223dup" "r.(?)" "p.(Val408dup)" "7" "0000578354" "00006843" "90" "1221" "0" "1223" "0" "c.1221_1223dup" "r.(?)" "p.(Val408dup)" "7" "0000578355" "00006843" "90" "1221" "0" "1223" "0" "c.1221_1223dup" "r.(?)" "p.(Val408dup)" "7" "0000578356" "00006843" "90" "1221" "0" "1223" "0" "c.1221_1223dup" "r.(?)" "p.(Val408dup)" "7" "0000578357" "00006843" "90" "1057" "0" "1057" "0" "c.1057dup" "r.(?)" "p.(His353Profs*59)" "5" "0000578358" "00006843" "90" "1057" "0" "1057" "0" "c.1057dup" "r.(?)" "p.(His353Profs*59)" "5" "0000578359" "00006843" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Cys)" "7" "0000578360" "00006843" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Cys)" "7" "0000578361" "00006843" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Cys)" "7" "0000578362" "00006843" "90" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Gly511Ser)" "9" "0000578363" "00006843" "90" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Gly511Ser)" "9" "0000578364" "00006843" "90" "1184" "3" "1184" "3" "c.1184+3A>T" "r.spl" "p.?" "6i" "0000578365" "00006843" "90" "1184" "3" "1184" "3" "c.1184+3A>T" "r.spl" "p.?" "6i" "0000578366" "00006843" "90" "1252" "0" "1252" "0" "c.1252C>T" "r.(?)" "p.(Arg418Cys)" "7" "0000578367" "00006843" "90" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Trp490*)" "8" "0000578368" "00006843" "90" "1797" "-1" "1797" "-1" "c.1797-1G>A" "r.spl" "p.?" "12i" "0000578369" "00006843" "90" "1797" "-1" "1797" "-1" "c.1797-1G>A" "r.spl" "p.?" "12i" "0000578370" "00006843" "90" "344" "0" "355" "0" "c.344_355del" "r.(?)" "p.(Asn115_Ala118del)" "2" "0000578371" "00006843" "90" "797" "0" "801" "0" "c.797_801delinsGCT" "r.(?)" "p.(Asp266Glyfs*15)" "3" "0000578372" "00006843" "90" "797" "0" "801" "0" "c.797_801delinsGCT" "r.(?)" "p.(Asp266Glyfs*15)" "3" "0000607816" "00006843" "10" "1267" "0" "1267" "0" "c.1267G>C" "r.(?)" "p.(Glu423Gln)" "" "0000607817" "00006843" "30" "855" "5" "855" "5" "c.855+5T>C" "r.spl?" "p.?" "" "0000650489" "00006843" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Cys)" "" "0000650490" "00006843" "90" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333*)" "" "0000675303" "00006843" "70" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Cys)" "" "0000675310" "00006843" "90" "110" "0" "155" "0" "c.110_155del" "r.(?)" "p.(Phe37Cysfs*151)" "" "0000675328" "00006843" "70" "1408" "-1" "1408" "-1" "c.1408-1G>T" "r.spl" "p.?" "" "0000675355" "00006843" "70" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Ser)" "" "0000676549" "00006843" "50" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756Trp)" "" "0000676550" "00006843" "30" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "" "0000688694" "00006843" "30" "1656" "0" "1656" "0" "c.1656G>A" "r.(?)" "p.(Lys552=)" "" "0000688695" "00006843" "50" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Ser240Arg)" "" "0000718616" "00006843" "90" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Trp490Ter)" "" "0000718617" "00006843" "10" "967" "-7" "967" "-7" "c.967-7C>G" "r.(=)" "p.(=)" "" "0000718618" "00006843" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Cys95Tyr)" "" "0000849794" "00006843" "10" "1995" "0" "1995" "0" "c.1995C>T" "r.(?)" "p.(Asn665=)" "" "0000858406" "00006843" "50" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Thr636Met)" "" "0000923655" "00006843" "70" "2311" "0" "2311" "0" "c.2311A>G" "r.(?)" "p.(Lys771Glu)" "" "0000923656" "00006843" "90" "332" "0" "332" "0" "c.332del" "r.(?)" "p.(Phe111SerfsTer92)" "" "0000946000" "00006843" "90" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Trp490Ter)" "" "0000975086" "00006843" "50" "1757" "0" "1757" "0" "c.1757G>A" "r.(?)" "p.(Gly586Asp)" "" "0000975087" "00006843" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484His)" "" "0000975088" "00006843" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0001013685" "00006843" "30" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(=)" "" "0001033099" "00006843" "50" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Gln)" "" "0001033100" "00006843" "50" "1868" "0" "1868" "0" "c.1868G>C" "r.(?)" "p.(Gly623Ala)" "" "0001033101" "00006843" "50" "1700" "0" "1700" "0" "c.1700C>G" "r.(?)" "p.(Pro567Arg)" "" "0001033102" "00006843" "50" "1558" "0" "1558" "0" "c.1558G>A" "r.(?)" "p.(Asp520Asn)" "" "0001033103" "00006843" "50" "1450" "0" "1450" "0" "c.1450C>T" "r.(?)" "p.(Arg484Cys)" "" "0001033104" "00006843" "50" "493" "0" "493" "0" "c.493C>A" "r.(?)" "p.(Leu165Met)" "" "0001033105" "00006843" "90" "110" "0" "155" "0" "c.110_155del" "r.(?)" "p.(Phe37Cysfs*151)" "" "0001051129" "00006843" "50" "1880" "0" "1880" "0" "c.1880G>C" "r.(?)" "p.(Arg627Pro)" "" "0001051130" "00006843" "90" "494" "0" "494" "0" "c.494T>C" "r.(?)" "p.(Leu165Pro)" "" "0001051131" "00006843" "50" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Phe68Leu)" "" "0001058628" "00006843" "90" "1185" "-2" "1185" "-2" "c.1185-2A>G" "r.spl" "p.?" "" "0001058629" "00006843" "90" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Ter)" "" "0001058630" "00006843" "70" "1209" "0" "1209" "0" "c.1209G>T" "r.(?)" "p.(Trp403Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 52 "{{screeningid}}" "{{variantid}}" "0000249444" "0000578227" "0000249540" "0000578332" "0000249540" "0000578370" "0000249541" "0000578333" "0000249542" "0000578334" "0000249543" "0000578335" "0000249543" "0000578371" "0000249544" "0000578336" "0000249544" "0000578372" "0000249545" "0000578337" "0000249545" "0000578364" "0000249546" "0000578338" "0000249546" "0000578365" "0000249547" "0000578339" "0000249548" "0000578340" "0000249548" "0000578366" "0000249549" "0000578341" "0000249550" "0000578342" "0000249551" "0000578343" "0000249553" "0000578344" "0000249554" "0000578345" "0000249555" "0000578346" "0000249555" "0000578367" "0000249556" "0000578347" "0000249557" "0000578348" "0000249558" "0000578349" "0000249559" "0000578350" "0000249560" "0000578351" "0000249561" "0000578352" "0000249562" "0000578353" "0000249563" "0000578354" "0000249564" "0000578355" "0000249565" "0000578356" "0000249566" "0000578357" "0000249567" "0000578358" "0000249568" "0000578359" "0000249569" "0000578360" "0000249570" "0000578361" "0000249571" "0000578362" "0000249571" "0000578368" "0000249572" "0000578363" "0000249572" "0000578369" "0000293800" "0000650489" "0000293801" "0000650490" "0000308345" "0000675303" "0000308352" "0000675310" "0000308352" "0000675355" "0000308370" "0000675328" "0000444143" "0000946000" "0000470506" "0001058628" "0000470507" "0001058629" "0000470508" "0001058630"