### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLURP1) # 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}}" "SLURP1" "secreted LY6/PLAUR domain containing 1" "8" "q24.3" "unknown" "NG_011494.1" "UD_132085276812" "" "https://www.LOVD.nl/SLURP1" "" "1" "18746" "57152" "606119" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLURP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-13 13:01:32" "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}}" "00019399" "SLURP1" "secreted LY6/PLAUR domain containing 1" "001" "NM_020427.2" "" "NP_065160.1" "" "" "" "-26" "511" "312" "143823829" "143822362" "" "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}}" "01904" "MDM" "Meleda disease" "AR" "248300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-12 19:33:35" "01905" "MLYCDD" "malonyl-CoA decarboxylase deficiency (MLYCDD)" "AR" "248360" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-23 09:32:47" "01906" "MADA" "dysplasia, mandibuloacral, with type A lipodystrophy (MADA)" "AR" "248370" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01907" "MANSA" "mannosidosis, alpha B, lysosomal" "AR" "248500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01908" "MANSB" "mannosidosis, beta (MANSB)" "AR" "248510" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLURP1" "01904" ## Individuals ## Do not remove or alter this header ## ## Count = 41 "{{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}}" "00385649" "" "" "" "3" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam1" "00385650" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam2" "00385651" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam3" "00385652" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam4" "00385653" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam5" "00385654" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam6" "00385655" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam7" "00385656" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam8" "00385657" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam9" "00385658" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam10" "00385659" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam11" "00385660" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Algeria" "" "0" "" "" "" "Fam12" "00385661" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam13" "00385662" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam14" "00385663" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam15" "00385664" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam16" "00385665" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam17" "00385666" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam18" "00385667" "" "" "" "1" "" "00006" "{PMID:Fischer 2001:11285253}" "family" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam19" "00385668" "" "" "" "3" "" "00006" "{PMID:Charfeddine 2003:14674887}" "4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Tunisia" "" "0" "" "" "" "Fam1" "00385669" "" "" "" "1" "" "00006" "{PMID:Charfeddine 2003:14674887}" "6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Tunisia" "" "0" "" "" "" "Fam2" "00385670" "" "" "" "2" "" "00006" "{PMID:Charfeddine 2003:14674887}" "5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Tunisia" "" "0" "" "" "" "Fam3" "00385671" "" "" "" "3" "" "00006" "{PMID:Charfeddine 2003:14674887}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "" "Fam4" "00385672" "" "" "" "1" "" "00006" "{PMID:Charfeddine 2003:14674887}" "5-generation family, 1 affecteds, unaffected heterozygous carrier parents/relatives" "M" "yes" "Tunisia" "" "0" "" "" "" "Fam5" "00385673" "" "" "" "2" "" "00006" "{PMID:Charfeddine 2003:14674887}" "3-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Tunisia" "" "0" "" "" "" "Fam6" "00385674" "" "" "" "5" "" "00006" "{PMID:Charfeddine 2003:14674887}" "4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "" "Fam7" "00385675" "" "" "" "3" "" "00006" "{PMID:Charfeddine 2003:14674887}" "3-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Tunisia" "" "0" "" "" "" "Fam8" "00385676" "" "" "" "13" "" "00006" "{PMID:Eckl 2003:12483299}" "9-generation family, 13 affected (8F, 5M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Palestine" "" "0" "" "" "" "Fam1" "00385677" "" "" "" "2" "" "00006" "{PMID:Eckl 2003:12483299}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2" "00385678" "" "" "" "1" "" "00006" "{PMID:Eckl 2003:12483299}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "United Arab Emirates" "" "0" "" "" "Bedouin" "Fam3" "00385679" "" "" "" "4" "" "00006" "{PMID:Eckl 2003:12483299}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Germany" "" "0" "" "" "" "Fam4" "00385680" "" "" "" "21" "" "00006" "{PMID:Marrakchi 2003:12603845}" "7-generation family, 21 affected (10F, 11M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "" "Fam1" "00385681" "" "" "" "4" "" "00006" "{PMID:Marrakchi 2003:12603845}" "5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Algeria" "" "0" "" "" "" "Fam2" "00385682" "" "" "" "1" "" "00006" "{PMID:Marrakchi 2003:12603845}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Algeria" "" "0" "" "" "" "Fam3" "00385683" "" "" "" "1" "" "00006" "{PMID:Marrakchi 2003:12603845}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Algeria" "" "0" "" "" "" "Fam4" "00385684" "" "" "" "1" "" "00006" "{PMID:Marrakchi 2003:12603845}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Algeria" "" "0" "" "" "" "Fam5" "00385685" "" "" "" "1" "" "00006" "{PMID:Marrakchi 2003:12603845}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Tunisia" "" "0" "" "" "" "Fam6" "00385686" "" "" "" "1" "" "00006" "{PMID:Marrakchi 2003:12603845}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Germany" "" "0" "" "" "" "Fam7" "00385687" "" "" "" "1" "" "00006" "{PMID:Marrakchi 2003:12603845}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "Scotland" "" "0" "" "" "" "Fam8" "00385688" "" "" "" "1" "" "00006" "{PMID:Ward 2003:12535203}" "3-generation family, 3 affected (3M)" "M" "yes" "" "" "0" "" "" "Kurdish" "Fam1" "00385690" "" "" "" "2" "" "00006" "{PMID:Ward 2003:12535203}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "Fam2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{individualid}}" "{{diseaseid}}" "00385649" "01904" "00385650" "01904" "00385651" "01904" "00385652" "01904" "00385653" "01904" "00385654" "01904" "00385655" "01904" "00385656" "01904" "00385657" "01904" "00385658" "01904" "00385659" "01904" "00385660" "01904" "00385661" "01904" "00385662" "01904" "00385663" "01904" "00385664" "01904" "00385665" "01904" "00385666" "01904" "00385667" "01904" "00385668" "01904" "00385669" "01904" "00385670" "01904" "00385671" "01904" "00385672" "01904" "00385673" "01904" "00385674" "01904" "00385675" "01904" "00385676" "01904" "00385677" "01904" "00385678" "01904" "00385679" "01904" "00385680" "01904" "00385681" "01904" "00385682" "01904" "00385683" "01904" "00385684" "01905" "00385685" "01906" "00385686" "01907" "00385687" "01908" "00385688" "01904" "00385690" "01904" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01904, 01905, 01906, 01907, 01908 ## Count = 41 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000279444" "01904" "00385649" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279445" "01904" "00385650" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279446" "01904" "00385651" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279447" "01904" "00385652" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279448" "01904" "00385653" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279449" "01904" "00385654" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279450" "01904" "00385655" "00006" "Familial, autosomal recessive" "" "skin lesions lesions inguinal area body" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279451" "01904" "00385656" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279452" "01904" "00385657" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279453" "01904" "00385658" "00006" "Familial, autosomal recessive" "" "skin lesions lesions inguinal area body" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279454" "01904" "00385659" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279455" "01904" "00385660" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279456" "01904" "00385661" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279457" "01904" "00385662" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279458" "01904" "00385663" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279459" "01904" "00385664" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279460" "01904" "00385665" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279461" "01904" "00385666" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279462" "01904" "00385667" "00006" "Familial, autosomal recessive" "" "keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279463" "01904" "00385668" "00006" "Familial, autosomal recessive" "" "see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279464" "01904" "00385669" "00006" "Familial, autosomal recessive" "" "see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279465" "01904" "00385670" "00006" "Familial, autosomal recessive" "" "see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279466" "01904" "00385671" "00006" "Familial, autosomal recessive" "" "see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279467" "01904" "00385672" "00006" "Familial, autosomal recessive" "" "see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279468" "01904" "00385673" "00006" "Familial, autosomal recessive" "" "see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279469" "01904" "00385674" "00006" "Familial, autosomal recessive" "" "see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279470" "01904" "00385675" "00006" "Familial, autosomal recessive" "" "see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279471" "01904" "00385676" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279472" "01904" "00385677" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279473" "01904" "00385678" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279474" "01904" "00385679" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279475" "01904" "00385680" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279476" "01904" "00385681" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279477" "01904" "00385682" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279478" "01904" "00385683" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279479" "01905" "00385684" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279480" "01906" "00385685" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279481" "01907" "00385686" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279482" "01908" "00385687" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279483" "01904" "00385688" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "Mal de Meleda" "0000279485" "01904" "00385690" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Mal de Meleda" ## Screenings ## Do not remove or alter this header ## ## Count = 41 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000386878" "00385649" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386879" "00385650" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386880" "00385651" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386881" "00385652" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386882" "00385653" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386883" "00385654" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386884" "00385655" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386885" "00385656" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386886" "00385657" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386887" "00385658" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386888" "00385659" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386889" "00385660" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386890" "00385661" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386891" "00385662" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386892" "00385663" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386893" "00385664" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386894" "00385665" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386895" "00385666" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386896" "00385667" "1" "00006" "00006" "2021-10-13 13:35:55" "" "" "SEQ" "DNA" "" "" "0000386897" "00385668" "1" "00006" "00006" "2021-10-13 13:59:57" "" "" "SEQ" "DNA" "" "" "0000386898" "00385669" "1" "00006" "00006" "2021-10-13 13:59:57" "" "" "SEQ" "DNA" "" "" "0000386899" "00385670" "1" "00006" "00006" "2021-10-13 13:59:57" "" "" "SEQ" "DNA" "" "" "0000386900" "00385671" "1" "00006" "00006" "2021-10-13 13:59:57" "" "" "SEQ" "DNA" "" "" "0000386901" "00385672" "1" "00006" "00006" "2021-10-13 13:59:57" "" "" "SEQ" "DNA" "" "" "0000386902" "00385673" "1" "00006" "00006" "2021-10-13 13:59:57" "" "" "SEQ" "DNA" "" "" "0000386903" "00385674" "1" "00006" "00006" "2021-10-13 13:59:57" "" "" "SEQ" "DNA" "" "" "0000386904" "00385675" "1" "00006" "00006" "2021-10-13 13:59:57" "" "" "SEQ" "DNA" "" "" "0000386905" "00385676" "1" "00006" "00006" "2021-10-13 14:13:03" "" "" "SEQ" "DNA" "" "" "0000386906" "00385677" "1" "00006" "00006" "2021-10-13 14:13:03" "" "" "SEQ" "DNA" "" "" "0000386907" "00385678" "1" "00006" "00006" "2021-10-13 14:13:03" "" "" "SEQ" "DNA" "" "" "0000386908" "00385679" "1" "00006" "00006" "2021-10-13 14:13:03" "" "" "SEQ" "DNA" "" "" "0000386909" "00385680" "1" "00006" "00006" "2021-10-13 14:35:48" "" "" "SEQ" "DNA" "" "" "0000386910" "00385681" "1" "00006" "00006" "2021-10-13 14:35:48" "" "" "SEQ" "DNA" "" "" "0000386911" "00385682" "1" "00006" "00006" "2021-10-13 14:35:48" "" "" "SEQ" "DNA" "" "" "0000386912" "00385683" "1" "00006" "00006" "2021-10-13 14:35:48" "" "" "SEQ" "DNA" "" "" "0000386913" "00385684" "1" "00006" "00006" "2021-10-13 14:35:48" "" "" "SEQ" "DNA" "" "" "0000386914" "00385685" "1" "00006" "00006" "2021-10-13 14:35:48" "" "" "SEQ" "DNA" "" "" "0000386915" "00385686" "1" "00006" "00006" "2021-10-13 14:35:48" "" "" "SEQ" "DNA" "" "" "0000386916" "00385687" "1" "00006" "00006" "2021-10-13 14:35:48" "" "" "SEQ" "DNA" "" "" "0000386917" "00385688" "1" "00006" "00006" "2021-10-13 14:47:18" "" "" "SEQ" "DNA" "" "" "0000386918" "00385690" "1" "00006" "00006" "2021-10-13 14:49:57" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000386878" "SLURP1" "0000386879" "SLURP1" "0000386880" "SLURP1" "0000386881" "SLURP1" "0000386882" "SLURP1" "0000386883" "SLURP1" "0000386884" "SLURP1" "0000386885" "SLURP1" "0000386886" "SLURP1" "0000386887" "SLURP1" "0000386888" "SLURP1" "0000386889" "SLURP1" "0000386890" "SLURP1" "0000386891" "SLURP1" "0000386892" "SLURP1" "0000386893" "SLURP1" "0000386894" "SLURP1" "0000386895" "SLURP1" "0000386896" "SLURP1" "0000386897" "SLURP1" "0000386898" "SLURP1" "0000386899" "SLURP1" "0000386900" "SLURP1" "0000386901" "SLURP1" "0000386902" "SLURP1" "0000386903" "SLURP1" "0000386904" "SLURP1" "0000386905" "SLURP1" "0000386906" "SLURP1" "0000386907" "SLURP1" "0000386908" "SLURP1" "0000386909" "SLURP1" "0000386910" "SLURP1" "0000386911" "SLURP1" "0000386912" "SLURP1" "0000386913" "SLURP1" "0000386914" "SLURP1" "0000386915" "SLURP1" "0000386916" "SLURP1" "0000386917" "SLURP1" "0000386918" "SLURP1" ## 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 = 49 "{{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}}" "0000678293" "0" "90" "8" "143822587" "143822587" "subst" "1.24478E-5" "02325" "SLURP1_000001" "g.143822587G>A" "" "" "" "SLURP1(NM_020427.3):c.286C>T (p.R96*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678294" "0" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "02325" "SLURP1_000002" "g.143823317del" "" "" "" "SLURP1(NM_020427.3):c.82delT (p.C28Afs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690178" "0" "50" "8" "143822694" "143822694" "subst" "0" "01943" "SLURP1_000003" "g.143822694T>C" "" "" "" "SLURP1(NM_020427.2):c.179A>G (p.E60G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814695" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "yes" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814696" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814697" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814698" "3" "90" "8" "143823220" "143823220" "subst" "0" "00006" "SLURP1_000008" "g.143823220C>T" "" "{PMID:Fischer 2001:11285253}" "" "" "" "Germline" "" "" "0" "" "" "g.142741802C>T" "" "pathogenic (recessive)" "" "0000814699" "3" "90" "8" "143823220" "143823220" "subst" "0" "00006" "SLURP1_000008" "g.143823220C>T" "" "{PMID:Fischer 2001:11285253}" "" "" "" "Germline" "" "" "0" "" "" "g.142741802C>T" "" "pathogenic (recessive)" "" "0000814700" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814701" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814702" "3" "90" "8" "143823220" "143823220" "subst" "0" "00006" "SLURP1_000008" "g.143823220C>T" "" "{PMID:Fischer 2001:11285253}" "" "" "" "Germline" "" "" "0" "" "" "g.142741802C>T" "" "pathogenic (recessive)" "" "0000814703" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814704" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814705" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814706" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814707" "3" "90" "8" "143822587" "143822587" "subst" "1.24478E-5" "00006" "SLURP1_000001" "g.143822587G>A" "" "{PMID:Fischer 2001:11285253}" "" "C286T" "" "Germline" "" "" "0" "" "" "g.142741169G>A" "" "pathogenic (recessive)" "" "0000814708" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814709" "3" "90" "8" "143822587" "143822587" "subst" "1.24478E-5" "00006" "SLURP1_000001" "g.143822587G>A" "" "{PMID:Fischer 2001:11285253}" "" "C286T" "" "Germline" "" "" "0" "" "" "g.142741169G>A" "" "pathogenic (recessive)" "" "0000814710" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814711" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814712" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Fischer 2001:11285253}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814713" "3" "90" "8" "143822587" "143822587" "subst" "1.24478E-5" "00006" "SLURP1_000001" "g.143822587G>A" "" "{PMID:Fischer 2001:11285253}" "" "C286T" "" "Germline" "" "" "0" "" "" "g.142741169G>A" "" "pathogenic (recessive)" "" "0000814714" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Charfeddine 2003:14674887}" "" "82delT" "" "Germline" "yes" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814715" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Charfeddine 2003:14674887}" "" "82delT" "" "Germline" "yes" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814716" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Charfeddine 2003:14674887}" "" "82delT" "" "Germline" "yes" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814717" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Charfeddine 2003:14674887}" "" "83delT" "" "Germline" "yes" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814718" "3" "90" "8" "143822644" "143822644" "subst" "0" "00006" "SLURP1_000007" "g.143822644A>G" "" "{PMID:Charfeddine 2003:14674887}" "" "C77A" "" "Germline" "yes" "" "0" "" "" "g.142741226A>G" "" "pathogenic (recessive)" "" "0000814719" "3" "90" "8" "143822644" "143822644" "subst" "0" "00006" "SLURP1_000007" "g.143822644A>G" "" "{PMID:Charfeddine 2003:14674887}" "" "C77A" "" "Germline" "yes" "" "0" "" "" "g.142741226A>G" "" "pathogenic (recessive)" "" "0000814720" "3" "90" "8" "143822577" "143822577" "subst" "0" "00006" "SLURP1_000005" "g.143822577C>T" "" "{PMID:Charfeddine 2003:14674887}" "" "C79Y" "" "Germline" "yes" "" "0" "" "" "g.142741159C>T" "" "pathogenic (recessive)" "" "0000814721" "3" "90" "8" "143822577" "143822577" "subst" "0" "00006" "SLURP1_000005" "g.143822577C>T" "" "{PMID:Charfeddine 2003:14674887}" "" "C79Y" "" "Germline" "yes" "" "0" "" "" "g.142741159C>T" "" "pathogenic (recessive)" "" "0000814722" "3" "90" "8" "143822617" "143822617" "subst" "4.5563E-5" "00006" "SLURP1_000006" "g.143822617C>T" "" "{PMID:Eckl 2003:12483299}" "" "1784G>A" "" "Germline" "yes" "" "0" "" "" "g.142741199C>T" "" "pathogenic (recessive)" "" "0000814723" "3" "90" "8" "143822617" "143822617" "subst" "4.5563E-5" "00006" "SLURP1_000006" "g.143822617C>T" "" "{PMID:Eckl 2003:12483299}" "" "1785G>A" "" "Germline" "yes" "" "0" "" "" "g.142741199C>T" "" "pathogenic (recessive)" "" "0000814724" "3" "90" "8" "143823761" "143823761" "subst" "8.98142E-5" "00006" "SLURP1_000004" "g.143823761A>G" "" "{PMID:Eckl 2003:12483299}" "" "620T>C" "" "Germline" "yes" "" "0" "" "" "g.142742343A>G" "" "pathogenic (recessive)" "" "0000814725" "3" "90" "8" "143823803" "143823803" "subst" "0" "00006" "SLURP1_000009" "g.143823803T>G" "" "{PMID:Eckl 2003:12483299}" "" "578A>C" "" "Germline" "yes" "" "0" "" "" "g.142742385T>G" "" "pathogenic (recessive)" "" "0000814726" "3" "90" "8" "143822577" "143822577" "subst" "0" "00006" "SLURP1_000005" "g.143822577C>T" "" "{PMID:Marrakchi 2003:12603845}" "" "" "" "Germline" "yes" "" "0" "" "" "g.142741159C>T" "" "pathogenic (recessive)" "" "0000814727" "3" "90" "8" "143823220" "143823220" "subst" "0" "00006" "SLURP1_000008" "g.143823220C>T" "" "{PMID:Marrakchi 2003:12603845}" "" "" "" "Germline" "yes" "" "0" "" "" "g.142741802C>T" "" "pathogenic (recessive)" "" "0000814728" "3" "90" "8" "143823220" "143823220" "subst" "0" "00006" "SLURP1_000008" "g.143823220C>T" "" "{PMID:Marrakchi 2003:12603845}" "" "" "" "Germline" "yes" "" "0" "" "" "g.142741802C>T" "" "pathogenic (recessive)" "" "0000814729" "3" "90" "8" "143823220" "143823220" "subst" "0" "00006" "SLURP1_000008" "g.143823220C>T" "" "{PMID:Marrakchi 2003:12603845}" "" "" "" "Germline" "yes" "" "0" "" "" "g.142741802C>T" "" "pathogenic (recessive)" "" "0000814730" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Marrakchi 2003:12603845}" "" "" "" "Germline" "yes" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814731" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Marrakchi 2003:12603845}" "" "" "" "Germline" "yes" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814732" "3" "90" "8" "143823761" "143823761" "subst" "8.98142E-5" "00006" "SLURP1_000004" "g.143823761A>G" "" "{PMID:Marrakchi 2003:12603845}" "" "" "" "Germline" "yes" "" "0" "" "" "g.142742343A>G" "" "pathogenic (recessive)" "" "0000814733" "1" "90" "8" "143823761" "143823761" "subst" "8.98142E-5" "00006" "SLURP1_000004" "g.143823761A>G" "" "{PMID:Marrakchi 2003:12603845}" "" "" "" "Germline" "" "" "0" "" "" "g.142742343A>G" "" "pathogenic (recessive)" "" "0000814734" "2" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Marrakchi 2003:12603845}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814735" "3" "90" "8" "143823317" "143823317" "del" "3.6768E-5" "00006" "SLURP1_000002" "g.143823317del" "" "{PMID:Ward 2003:12535203}" "" "82delT" "" "Germline" "yes" "" "0" "" "" "g.142741899del" "" "pathogenic (recessive)" "" "0000814736" "3" "90" "8" "143822587" "143822587" "subst" "1.24478E-5" "00006" "SLURP1_000001" "g.143822587G>A" "" "{PMID:Ward 2003:12535203}" "" "C286T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000912884" "0" "90" "8" "143823761" "143823761" "subst" "8.98142E-5" "02325" "SLURP1_000004" "g.143823761A>G" "" "" "" "SLURP1(NM_020427.3):c.43T>C (p.W15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036760" "0" "50" "8" "143822598" "143822598" "subst" "1.65456E-5" "02327" "SLURP1_000010" "g.143822598A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036761" "0" "70" "8" "143822661" "143822661" "subst" "0" "02327" "SLURP1_000011" "g.143822661C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036762" "0" "90" "8" "143823761" "143823761" "subst" "8.98142E-5" "02327" "SLURP1_000004" "g.143823761A>G" "" "" "" "SLURP1(NM_020427.3):c.43T>C (p.W15R)" "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 SLURP1 ## Count = 49 "{{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}}" "0000678293" "00019399" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Ter)" "" "0000678294" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "" "0000690178" "00019399" "50" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(Glu60Gly)" "" "0000814695" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814696" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814697" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814698" "00019399" "90" "178" "1" "178" "1" "c.178+1G>A" "r.spl" "p.?" "2i" "0000814699" "00019399" "90" "178" "1" "178" "1" "c.178+1G>A" "r.spl" "p.?" "2i" "0000814700" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814701" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814702" "00019399" "90" "178" "1" "178" "1" "c.178+1G>A" "r.spl" "p.?" "2i" "0000814703" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814704" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814705" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814706" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814707" "00019399" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Ter)" "3" "0000814708" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814709" "00019399" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Ter)" "3" "0000814710" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814711" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814712" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814713" "00019399" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Ter)" "3" "0000814714" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814715" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814716" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814717" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28AlafsTer5)" "2" "0000814718" "00019399" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Cys77Arg)" "3" "0000814719" "00019399" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Cys77Arg)" "3" "0000814720" "00019399" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Cys99Tyr)" "3" "0000814721" "00019399" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Cys99Tyr)" "3" "0000814722" "00019399" "90" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Gly86Arg)" "" "0000814723" "00019399" "90" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Gly86Arg)" "" "0000814724" "00019399" "90" "43" "0" "43" "0" "c.43T>C" "r.(?)" "p.(Trp15Arg)" "" "0000814725" "00019399" "90" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.0?" "" "0000814726" "00019399" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Cys99Tyr)" "" "0000814727" "00019399" "90" "178" "1" "178" "1" "c.178+1G>A" "r.(?)" "p.?" "" "0000814728" "00019399" "90" "178" "1" "178" "1" "c.178+1G>A" "r.(?)" "p.?" "" "0000814729" "00019399" "90" "178" "1" "178" "1" "c.178+1G>A" "r.(?)" "p.?" "" "0000814730" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28Alafs*5)" "" "0000814731" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28Alafs*5)" "" "0000814732" "00019399" "90" "43" "0" "43" "0" "c.43T>C" "r.(?)" "p.(Trp15Arg)" "" "0000814733" "00019399" "90" "43" "0" "43" "0" "c.43T>C" "r.(?)" "p.(Trp15Arg)" "" "0000814734" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28Alafs*5)" "" "0000814735" "00019399" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Cys28Alafs*5)" "" "0000814736" "00019399" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96*)" "" "0000912884" "00019399" "90" "43" "0" "43" "0" "c.43T>C" "r.(?)" "p.(Trp15Arg)" "" "0001036760" "00019399" "50" "275" "0" "275" "0" "c.275T>G" "r.(?)" "p.(Phe92Cys)" "" "0001036761" "00019399" "70" "212" "0" "212" "0" "c.212G>C" "r.(?)" "p.(Arg71Pro)" "" "0001036762" "00019399" "90" "43" "0" "43" "0" "c.43T>C" "r.(?)" "p.(Trp15Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{variantid}}" "0000386878" "0000814695" "0000386879" "0000814696" "0000386880" "0000814697" "0000386881" "0000814698" "0000386882" "0000814699" "0000386883" "0000814700" "0000386884" "0000814701" "0000386885" "0000814702" "0000386886" "0000814703" "0000386887" "0000814704" "0000386888" "0000814705" "0000386889" "0000814706" "0000386890" "0000814707" "0000386891" "0000814708" "0000386892" "0000814709" "0000386893" "0000814710" "0000386894" "0000814711" "0000386895" "0000814712" "0000386896" "0000814713" "0000386897" "0000814714" "0000386898" "0000814715" "0000386899" "0000814716" "0000386900" "0000814717" "0000386901" "0000814718" "0000386902" "0000814719" "0000386903" "0000814720" "0000386904" "0000814721" "0000386905" "0000814722" "0000386906" "0000814723" "0000386907" "0000814724" "0000386908" "0000814725" "0000386909" "0000814726" "0000386910" "0000814727" "0000386911" "0000814728" "0000386912" "0000814729" "0000386913" "0000814730" "0000386914" "0000814731" "0000386915" "0000814732" "0000386916" "0000814733" "0000386916" "0000814734" "0000386917" "0000814735" "0000386918" "0000814736"