### 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" "00000" "2025-05-05 21:14:00" ## 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 = 39 "{{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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 39 "{{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" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 00385, 03820, 05618 ## Count = 37 "{{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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 39 "{{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" ## 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 = 95 "{{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" "" ## 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 = 95 "{{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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{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"