### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCUBE3) # 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}}" "SCUBE3" "signal peptide, CUB domain, EGF-like 3" "6" "p21.3" "unknown" "NG_050574.1" "UD_132438815668" "" "https://www.LOVD.nl/SCUBE3" "" "1" "13655" "222663" "614708" "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/SCUBE3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-14 19:10:12" "00006" "2025-11-22 16:52:56" ## 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}}" "00018549" "SCUBE3" "signal peptide, CUB domain, EGF-like 3" "001" "NM_152753.2" "" "NP_689966.2" "" "" "" "-6" "5109" "2982" "35182190" "35218609" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "07203" "SSFSC2" "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, type 2" "AR" "619184" "" "" "" "00006" "2025-11-21 19:15:27" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SCUBE3" "07203" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00155229" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29311637-Fam3" "00324478" "" "" "" "2" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Italy" "" "0" "" "" "" "Fam1S1" "00324479" "" "" "00324478" "1" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "sister" "F" "yes" "Italy" "" "0" "" "" "" "Fam1S2" "00324480" "" "" "" "2" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}, {PMID:Jacob 2025:39706863}" "5-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "" "Fam2S1;?" "00324481" "" "" "00324480" "1" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "brother" "M" "yes" "India" "" "0" "" "" "" "Fam2S2" "00324482" "" "" "" "3" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "3-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam3S1" "00324483" "" "" "00324482" "1" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "F" "yes" "Iran" "" "0" "" "" "" "Fam3S2" "00324484" "" "" "00324482" "1" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "M" "yes" "Iran" "" "0" "" "" "" "Fam3S3" "00324485" "" "" "" "1" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Sri Lanka" "" "0" "" "" "" "Fam4S1" "00324486" "" "" "" "2" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "2-generation family, affected brother/sisters, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam5S1" "00324487" "" "" "00324486" "1" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "sister" "F" "yes" "Turkey" "" "0" "" "" "" "Fam5S2" "00324488" "" "" "" "2" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam6S1" "00324489" "" "" "" "1" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "Fam7S1" "00324490" "" "" "" "1" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Brazil" "" "0" "" "" "" "Fam8S1" "00324491" "" "" "" "3" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "M" "yes" "Israel" "" "0" "" "" "" "Fam9S1" "00324492" "" "" "00324491" "1" "" "00006" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "F" "yes" "Israel" "" "0" "" "" "" "Fam9S2" "00327619" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00155229" "00259" "00324478" "00198" "00324479" "00198" "00324480" "00198" "00324481" "00198" "00324482" "00198" "00324483" "00198" "00324484" "00198" "00324485" "00198" "00324486" "00198" "00324487" "00198" "00324488" "00198" "00324489" "00198" "00324490" "00198" "00324491" "00198" "00324492" "00198" "00327619" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00259, 07203 ## Count = 17 "{{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}}" "0000127757" "00259" "00155229" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity" "" "" "" "" "" "" "" "" "" "obesity" "" "0000243021" "00198" "00324478" "00006" "Familial, autosomal recessive" "19y" "prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; no microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; hypodontia, dental crowding; skeletal anomalies; short hands/brachydactyly; narrow iliac wing/coxa valga; thin/short long bones; squared vertebrae; abnormal cervical vertebrae; 11 pairs of ribs; scoliosis; joint hypermobility; no hearing loss (conductive); no cardiac defects" "" "" "" "" "" "" "" "" "" "" "" "0000243022" "00198" "00324479" "00006" "Familial, autosomal recessive" "10y" "no prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; no microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; thick lips; short chin; pointed china; cleft palate; hypodontia, enamel dysplasia/multiple caries, dental crowding; skeletal anomalies; short hands/brachydactyly; coxa valga; thin/short long bones; squared vertebrae; abnormal cervical vertebrae; 11 pairs of ribs; scoliosis; joint hypermobility; no hearing loss (conductive); no cardiac defects" "" "" "" "" "" "" "" "" "" "" "" "0000243023" "00198" "00324480" "00006" "Familial, autosomal recessive" "22y" "prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; no thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; dental crowding; skeletal anomalies; short hands/brachydactyly; narrow iliac wing,coxa valga; no squared vertebrae; no 11 pairs of ribs; no scoliosis; no joint abnormalities; hearing loss (conductive); no cardiac defects" "" "" "" "" "" "" "" "" "" "" "" "0000243024" "00198" "00324481" "00006" "Familial, autosomal recessive" "15y" "prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; dental crowding; skeletal anomalies; short hands/brachydactyly; narrow iliac wing, coxa valga; squared vertebrae; no 11 pairs of ribs; scoliosis; no joint abnormalities; hearing loss (conductive); no cardiac defects" "" "" "" "" "" "" "" "" "" "" "" "0000243025" "00198" "00324482" "00006" "Familial, autosomal recessive" "39y" "prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; no thick lips; short chin; no Pierre Robin sequence/cleft palate; dental crowding; skeletal anomalies; short hands/brachydactyly; narrow iliac wing, acetabular dysplasia; no thin/short long bones; squared vertebrae; no abnormal cervical vertebrae; 11 pairs of ribs; no scoliosis; no hearing loss (conductive); no cardiac defects" "" "" "" "" "" "" "" "" "" "" "" "0000243026" "00198" "00324483" "00006" "Familial, autosomal recessive" "29y" "postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; long/triangular face; high forehead; high nasal bridge; long nose; no thick lips; dental crowding; skeletal anomalies; short hands/brachydactyly; narrow iliac wing" "" "" "" "" "" "" "" "" "" "" "" "0000243027" "00198" "00324484" "00006" "Familial, autosomal recessive" "25y" "postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; no microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; no thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; oligodontia, dental crowding; skeletal anomalies; no short hands/brachydactyly; hearing loss (conductive); no cardiac defects" "" "" "" "" "" "" "" "" "" "" "" "0000243028" "00198" "00324485" "00006" "Familial, autosomal recessive" "11y06m" "prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; macrodontia, enamel dysplasia/multiple caries, dental crowding, ectopic teeth; skeletal anomalies; short hands/brachydactyly; narrow iliac wing,coxa valga; thin/short long bones; no squared vertebrae; no 11 pairs of ribs; no scoliosis; no joint abnormalities; no hearing loss (conductive); no cardiac defects" "" "" "" "" "" "" "" "" "SSFSC2" "skeletal dysplasia" "" "0000243029" "00198" "00324486" "00006" "Familial, autosomal recessive" "11y08m" "postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; no thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; enamel dysplasia/multiple caries; skeletal anomalies; short hands/brachydactyly; coxa valga; thin/short long bones; no squared vertebrae; no abnormal cervical vertebrae; no 11 pairs of ribs; scoliosis; no cardiac defects" "" "" "" "" "" "" "" "" "SSFSC2" "skeletal dysplasia" "" "0000243030" "00198" "00324487" "00006" "Familial, autosomal recessive" "7y4m" "postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; no thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; enamel dysplasia/multiple caries; skeletal anomalies; no short hands/brachydactyly; no hip defects; thin/short long bones; no squared vertebrae; no abnormal cervical vertebrae; no 11 pairs of ribs; scoliosis; cardiac arrhythmia (ventricular extrasystoles, atrioventricular block)" "" "" "" "" "" "" "" "" "" "" "" "0000243031" "00198" "00324488" "00006" "Familial, autosomal recessive" "16m" "prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; no high nasal bridge; no long nose; thick lips; short chin; no pointed china; no Pierre Robin sequence/cleft palate; dental crowding, misalignment of incisor; skeletal anomalies; no short hands/brachydactyly; no hip defects; no thin/short long bones; no squared vertebrae; abnormal cervical vertebrae; no 11 pairs of ribs; no scoliosis; joint stiffness; no hearing loss (conductive); atrial septal defect" "" "" "" "" "" "" "" "" "" "" "" "0000243032" "00198" "00324489" "00006" "Familial, autosomal recessive" "26m" "prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); developmental delay/intellectual disability; speech delay; hypotonia; high forehead; no high nasal bridge; no long nose; thick lips; short chin; no pointed china; Pierre Robin sequence; misalignment of incisor; skeletal anomalies; short hands/brachydactyly; no hip defects; no thin/short long bones; no squared vertebrae; no abnormal cervical vertebrae; no 11 pairs of ribs; no scoliosis; no hearing loss (conductive); patent foramen ovale" "" "" "" "" "" "" "" "" "" "" "" "0000243033" "00198" "00324490" "00006" "Familial, autosomal recessive" "12y10m" "prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; thick lips; short chin; pointed china; Pierre Robin sequence; dental crowding; skeletal anomalies; short hands/brachydactyly; no hip defects; thin/short long bones; squared vertebrae; abnormal cervical vertebrae; 11 pairs of ribs; scoliosis; limited flexion proximal interphalangeal joints both hands; hearing loss (conductive); no cardiac defects" "" "" "" "" "" "" "" "" "" "" "" "0000243034" "00198" "00324491" "00006" "Familial, autosomal recessive" "8y" "no prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; no microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; no thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; dental crowding; skeletal anomalies; short hands/brachydactyly; no hip defects; no thin/short long bones; no squared vertebrae; no abnormal cervical vertebrae; no 11 pairs of ribs; no scoliosis; limited flexions fingers, hand grip difficulties; no hearing loss (conductive); no cardiac defects" "" "" "" "" "" "" "" "" "" "" "" "0000243035" "00198" "00324492" "00006" "Familial, autosomal recessive" "22y6m" "no prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); developmental delay/intellectual disability; speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; no thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; oligodontia, dental crowding, misalignment of incisor; skeletal anomalies; short hands/brachydactyly; no hip defects; no thin/short long bones; no squared vertebrae; no abnormal cervical vertebrae; no 11 pairs of ribs; no scoliosis; no hearing loss (conductive); atrial septal defect" "" "" "" "" "" "" "" "" "" "" "" "0000245864" "00198" "00327619" "01807" "Unknown" "" "Microcephaly (HP:0000252); Failure to thrive (HP:0001508); Short stature (HP:0004322); Abnormality of the skeletal system (HP:0000924)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156093" "00155229" "1" "00006" "00006" "2018-03-18 13:11:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325669" "00324478" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325670" "00324479" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325671" "00324480" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325672" "00324481" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325673" "00324482" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325674" "00324483" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325675" "00324484" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325676" "00324485" "1" "00006" "00006" "2020-12-14 19:34:41" "00006" "2025-11-22 16:52:56" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000325677" "00324486" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325678" "00324487" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325679" "00324488" "1" "00006" "00006" "2020-12-14 19:34:41" "00006" "2025-11-22 16:52:26" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000325680" "00324489" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325681" "00324490" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325682" "00324491" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325683" "00324492" "1" "00006" "00006" "2020-12-14 19:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328833" "00327619" "1" "01807" "01807" "2021-01-25 10:37:56" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000325669" "SCUBE3" "0000325670" "SCUBE3" "0000325671" "SCUBE3" "0000325672" "SCUBE3" "0000325673" "SCUBE3" "0000325674" "SCUBE3" "0000325675" "SCUBE3" "0000325676" "SCUBE3" "0000325677" "SCUBE3" "0000325678" "SCUBE3" "0000325679" "SCUBE3" "0000325680" "SCUBE3" "0000325681" "SCUBE3" "0000325682" "SCUBE3" "0000325683" "SCUBE3" ## 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}}" "0000330989" "0" "90" "6" "35213204" "35213204" "subst" "0" "01804" "SCUBE3_000001" "g.35213204T>C" "" "" "" "SCUBE3(NM_152753.2):c.2599+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35245427T>C" "" "pathogenic" "" "0000357986" "3" "50" "6" "35208942" "35208942" "subst" "0.000110066" "00006" "SCUBE3_000002" "g.35208942G>A" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.35241165G>A" "" "VUS" "" "0000677765" "0" "50" "6" "35210458" "35210458" "subst" "1.21857E-5" "01804" "SCUBE3_000003" "g.35210458C>T" "" "" "" "SCUBE3(NM_001303136.1):c.1591C>T (p.(Arg531Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708805" "3" "50" "6" "35196473" "35196473" "subst" "0" "00006" "SCUBE3_000004" "g.35196473C>G" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35228696C>G" "" "VUS" "ACMG" "0000708806" "3" "50" "6" "35196473" "35196473" "subst" "0" "00006" "SCUBE3_000004" "g.35196473C>G" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35228696C>G" "" "VUS" "ACMG" "0000708807" "3" "50" "6" "35213047" "35213047" "subst" "2.43655E-5" "00006" "SCUBE3_000009" "g.35213047T>C" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "yes" "rs751478115" "0" "" "" "g.35245270T>C" "SCV002507148.1" "VUS" "ACMG" "0000708808" "3" "50" "6" "35213047" "35213047" "subst" "2.43655E-5" "00006" "SCUBE3_000009" "g.35213047T>C" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "yes" "rs751478115" "0" "" "" "g.35245270T>C" "" "VUS" "ACMG" "0000708809" "3" "90" "6" "35210821" "35210821" "subst" "4.07997E-6" "00006" "SCUBE3_000007" "g.35210821C>T" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "yes" "rs1436996181" "0" "" "" "g.35243044C>T" "" "pathogenic (recessive)" "ACMG" "0000708810" "3" "90" "6" "35210821" "35210821" "subst" "4.07997E-6" "00006" "SCUBE3_000007" "g.35210821C>T" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "yes" "rs1436996181" "0" "" "" "g.35243044C>T" "" "pathogenic (recessive)" "ACMG" "0000708811" "3" "90" "6" "35210821" "35210821" "subst" "4.07997E-6" "00006" "SCUBE3_000007" "g.35210821C>T" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "yes" "rs1436996181" "0" "" "" "g.35243044C>T" "" "pathogenic (recessive)" "ACMG" "0000708812" "3" "90" "6" "35211908" "35211908" "subst" "0" "00006" "SCUBE3_000008" "g.35211908G>A" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "" "" "0" "" "" "g.35244131G>A" "" "pathogenic (recessive)" "ACMG" "0000708813" "3" "90" "6" "35213204" "35213204" "subst" "0" "00006" "SCUBE3_000001" "g.35213204T>C" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.35245427T>C" "" "pathogenic (recessive)" "ACMG" "0000708814" "3" "90" "6" "35213204" "35213204" "subst" "0" "00006" "SCUBE3_000001" "g.35213204T>C" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.35245427T>C" "" "pathogenic (recessive)" "ACMG" "0000708815" "3" "50" "6" "35206183" "35207808" "delins" "0" "00006" "SCUBE3_000006" "g.35206183_35207808delins35204627_35204713inv" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "829+1_952del" "" "Germline" "" "" "0" "" "" "g.35238406_35240031delins35236850_35236936inv" "" "VUS" "ACMG" "0000708816" "3" "50" "6" "35213047" "35213047" "subst" "2.43655E-5" "00006" "SCUBE3_000009" "g.35213047T>C" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "" "rs751478115" "0" "" "" "g.35245270T>C" "" "VUS" "ACMG" "0000708817" "3" "50" "6" "35200977" "35200977" "subst" "0" "00006" "SCUBE3_000005" "g.35200977G>A" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "" "" "0" "" "" "g.35233200G>A" "" "VUS" "ACMG" "0000708818" "3" "90" "6" "35214015" "35214015" "subst" "0" "00006" "SCUBE3_000010" "g.35214015C>T" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "yes" "rs1397172310" "0" "" "" "g.35246238C>T" "" "pathogenic (recessive)" "ACMG" "0000708819" "3" "90" "6" "35214015" "35214015" "subst" "0" "00006" "SCUBE3_000010" "g.35214015C>T" "" "{PMID:Lin 2021:33308444}, {DOI:Lin 2021:10.1016/j.ajhg.2020.11.015}" "" "" "" "Germline" "yes" "rs1397172310" "0" "" "" "g.35246238C>T" "" "pathogenic (recessive)" "ACMG" "0000712954" "3" "90" "6" "35210421" "35210421" "subst" "0" "01807" "SCUBE3_000011" "g.35210421C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000720905" "0" "30" "6" "35201057" "35201057" "subst" "0.00871351" "01804" "SCUBE3_000012" "g.35201057A>G" "" "" "" "SCUBE3(NM_001303136.1):c.688A>G (p.(Thr230Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720906" "0" "50" "6" "35207648" "35207648" "subst" "0.00177351" "01804" "SCUBE3_000013" "g.35207648C>G" "" "" "" "SCUBE3(NM_001303136.1):c.946C>G (p.(Gln316Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720907" "0" "30" "6" "35209353" "35209353" "subst" "0.0041996" "01804" "SCUBE3_000014" "g.35209353C>T" "" "" "" "SCUBE3(NM_001303136.1):c.1226C>T (p.(Ser409Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720908" "0" "50" "6" "35213840" "35213840" "subst" "0.00032081" "01804" "SCUBE3_000015" "g.35213840C>T" "" "" "" "SCUBE3(NM_001303136.1):c.2716C>T (p.(Arg906Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860331" "0" "50" "6" "35201024" "35201024" "subst" "4.0837E-6" "01804" "SCUBE3_000016" "g.35201024C>T" "" "" "" "SCUBE3(NM_152753.2):c.658C>T (p.(Arg220Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860332" "0" "50" "6" "35207655" "35207655" "subst" "0" "02329" "SCUBE3_000017" "g.35207655A>G" "" "" "" "SCUBE3(NM_001303136.2):c.949+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860333" "0" "90" "6" "35208945" "35208945" "dup" "0" "02329" "SCUBE3_000018" "g.35208945dup" "" "" "" "SCUBE3(NM_001303136.2):c.1094dupG (p.G366Rfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887225" "0" "50" "6" "35214051" "35214051" "subst" "0.000324894" "01804" "SCUBE3_000019" "g.35214051G>A" "" "" "" "SCUBE3(NM_152753.2):c.2821G>A (p.(Glu941Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887226" "0" "70" "6" "35216341" "35216341" "del" "0" "01804" "SCUBE3_000020" "g.35216341del" "" "" "" "SCUBE3(NM_152753.2):c.2841del (p.(Lys947Asnfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924502" "0" "50" "6" "35208953" "35208953" "subst" "0" "01804" "SCUBE3_000021" "g.35208953C>T" "" "" "" "SCUBE3(NM_152753.2):c.1105C>T (p.(Arg369Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948703" "0" "30" "6" "35210459" "35210459" "subst" "5.68713E-5" "01804" "SCUBE3_000022" "g.35210459G>A" "" "" "" "SCUBE3(NM_152753.2):c.1595G>A (p.(Arg532Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977210" "0" "50" "6" "35200702" "35200702" "subst" "0" "01804" "SCUBE3_000023" "g.35200702G>A" "" "" "" "SCUBE3(NM_152753.4):c.545G>A (p.(Cys182Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977211" "0" "50" "6" "35207597" "35207597" "subst" "0" "01804" "SCUBE3_000024" "g.35207597G>A" "" "" "" "SCUBE3(NM_152753.4):c.898G>A (p.(Glu300Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977212" "0" "50" "6" "35208974" "35208974" "subst" "0.000268518" "01804" "SCUBE3_000025" "g.35208974C>T" "" "" "" "SCUBE3(NM_152753.4):c.1126C>T (p.(Pro376Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977213" "0" "50" "6" "35213136" "35213136" "subst" "2.43633E-5" "01804" "SCUBE3_000026" "g.35213136G>A" "" "" "" "SCUBE3(NM_152753.4):c.2533G>A (p.(Val845Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995742" "0" "30" "6" "35212592" "35212592" "subst" "7.33682E-5" "01804" "SCUBE3_000027" "g.35212592C>T" "" "" "" "SCUBE3(NM_152753.2):c.2401+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035737" "0" "50" "6" "35196466" "35196466" "subst" "0" "01804" "SCUBE3_000028" "g.35196466G>A" "" "" "" "SCUBE3(NM_152753.4):c.284G>A (p.(Cys95Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035738" "0" "50" "6" "35199528" "35199528" "subst" "0" "01804" "SCUBE3_000029" "g.35199528G>A" "" "" "" "SCUBE3(NM_152753.4):c.361G>A (p.(Gly121Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035739" "0" "50" "6" "35207577" "35207577" "subst" "0" "01804" "SCUBE3_000030" "g.35207577G>A" "" "" "" "SCUBE3(NM_152753.4):c.878G>A (p.(Arg293His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035740" "0" "50" "6" "35208942" "35208942" "subst" "4.07651E-6" "01804" "SCUBE3_000031" "g.35208942G>C" "" "" "" "SCUBE3(NM_152753.4):c.1094G>C (p.(Arg365Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035741" "0" "50" "6" "35209017" "35209017" "subst" "0.000335969" "01804" "SCUBE3_000032" "g.35209017T>C" "" "" "" "SCUBE3(NM_152753.4):c.1169T>C (p.(Leu390Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035742" "0" "30" "6" "35209425" "35209425" "subst" "0.00142962" "01804" "SCUBE3_000033" "g.35209425G>A" "" "" "" "SCUBE3(NM_152753.4):c.1301G>A (p.(Arg434Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035743" "0" "50" "6" "35213008" "35213008" "subst" "0.000170741" "01804" "SCUBE3_000034" "g.35213008G>A" "" "" "" "SCUBE3(NM_152753.4):c.2405G>A (p.(Arg802His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035744" "0" "50" "6" "35216354" "35216354" "subst" "0" "01804" "SCUBE3_000035" "g.35216354T>A" "" "" "" "SCUBE3(NM_152753.4):c.2854T>A (p.(Phe952Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035745" "0" "50" "6" "35216444" "35216444" "subst" "1.21829E-5" "01804" "SCUBE3_000036" "g.35216444C>T" "" "" "" "SCUBE3(NM_152753.4):c.2944C>T (p.(Arg982Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052331" "0" "50" "6" "35195351" "35195351" "subst" "0" "01804" "SCUBE3_000037" "g.35195351T>C" "" "" "" "SCUBE3(NM_152753.4):c.86-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052332" "0" "50" "6" "35200998" "35200998" "subst" "0.000158883" "01804" "SCUBE3_000038" "g.35200998C>T" "" "" "" "SCUBE3(NM_152753.4):c.632C>T (p.(Thr211Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052333" "0" "50" "6" "35207543" "35207543" "subst" "0.000209291" "01804" "SCUBE3_000039" "g.35207543C>T" "" "" "" "SCUBE3(NM_152753.4):c.844C>T (p.(Arg282Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052334" "0" "50" "6" "35210477" "35210477" "subst" "0.000316911" "01804" "SCUBE3_000040" "g.35210477G>A" "" "" "" "SCUBE3(NM_152753.4):c.1613G>A (p.(Arg538Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052335" "0" "50" "6" "35211514" "35211516" "del" "0" "01804" "SCUBE3_000041" "g.35211514_35211516del" "" "" "" "SCUBE3(NM_152753.4):c.2053_2055del (p.(Asn685del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SCUBE3 ## 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}}" "0000330989" "00018549" "90" "2599" "2" "2599" "2" "c.2599+2T>C" "r.spl?" "p.?" "" "0000357986" "00018549" "00" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365Gln)" "" "0000677765" "00018549" "50" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "" "0000708805" "00018549" "50" "291" "0" "291" "0" "c.291C>G" "r.(?)" "p.(Cys97Trp)" "" "0000708806" "00018549" "50" "291" "0" "291" "0" "c.291C>G" "r.(?)" "p.(Cys97Trp)" "" "0000708807" "00018549" "50" "2444" "0" "2444" "0" "c.2444T>C" "r.(?)" "p.(Ile815Thr)" "" "0000708808" "00018549" "50" "2444" "0" "2444" "0" "c.2444T>C" "r.(?)" "p.(Ile815Thr)" "" "0000708809" "00018549" "90" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Arg573*)" "" "0000708810" "00018549" "90" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Arg573*)" "" "0000708811" "00018549" "90" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Arg573*)" "" "0000708812" "00018549" "90" "2239" "1" "2239" "1" "c.2239+1G>A" "r.2239_2240insATGA" "p.Val747AspfsTer46" "17i" "0000708813" "00018549" "90" "2599" "2" "2599" "2" "c.2599+2T>C" "r.[(2402_2599del|0.33,2402_2675|0.25,2402_2599delins2401+1_2425|0.17,[2402_2599del;2752_2753ins2752+1_2753-1]|0.17)]" "p.[(Asn801_Ser867delinsThr,Asn801ArgfsTer33,Asn801SerfsTer20,Asn801ThrfsTer78,Val846HisfsTer57)]" "19i" "0000708814" "00018549" "90" "2599" "2" "2599" "2" "c.2599+2T>C" "r.[(2402_2599del|0.33,2402_2675|0.25,2402_2599delins2401+1_2425|0.17,[2402_2599del;2752_2753ins2752+1_2753-1]|0.17,2402_2535del|)]" "p.[(Asn801_Ser867delinsThr,Asn801ArgfsTer33,Asn801SerfsTer20,Asn801ThrfsTer78,Val846HisfsTer57)]" "19i" "0000708815" "00018549" "50" "829" "388" "952" "157" "c.829+388_952+157delins713-1052_713-966inv" "r.830_952del" "p.Arg282_Cys322del" "7i_8i" "0000708816" "00018549" "50" "2444" "0" "2444" "0" "c.2444T>C" "r.(?)" "p.(Ile815Thr)" "" "0000708817" "00018549" "50" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Gly204Asp)" "" "0000708818" "00018549" "90" "2785" "0" "2785" "0" "c.2785C>T" "r.(?)" "p.(Arg929*)" "" "0000708819" "00018549" "90" "2785" "0" "2785" "0" "c.2785C>T" "r.(?)" "p.(Arg929*)" "" "0000712954" "00018549" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Cys519Ter)" "" "0000720905" "00018549" "30" "691" "0" "691" "0" "c.691A>G" "r.(?)" "p.(Thr231Ala)" "" "0000720906" "00018549" "50" "949" "0" "949" "0" "c.949C>G" "r.(?)" "p.(Gln317Glu)" "" "0000720907" "00018549" "30" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Ser410Leu)" "" "0000720908" "00018549" "50" "2719" "0" "2719" "0" "c.2719C>T" "r.(?)" "p.(Arg907Cys)" "" "0000860331" "00018549" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000860332" "00018549" "50" "952" "4" "952" "4" "c.952+4A>G" "r.spl?" "p.?" "" "0000860333" "00018549" "90" "1097" "0" "1097" "0" "c.1097dup" "r.(?)" "p.(Gly367Argfs*74)" "" "0000887225" "00018549" "50" "2821" "0" "2821" "0" "c.2821G>A" "r.(?)" "p.(Glu941Lys)" "" "0000887226" "00018549" "70" "2841" "0" "2841" "0" "c.2841del" "r.(?)" "p.(Lys947Asnfs*10)" "" "0000924502" "00018549" "50" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Cys)" "" "0000948703" "00018549" "30" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532Gln)" "" "0000977210" "00018549" "50" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Cys182Tyr)" "" "0000977211" "00018549" "50" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Glu300Lys)" "" "0000977212" "00018549" "50" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "" "0000977213" "00018549" "50" "2533" "0" "2533" "0" "c.2533G>A" "r.(?)" "p.(Val845Met)" "" "0000995742" "00018549" "30" "2401" "4" "2401" "4" "c.2401+4C>T" "r.spl?" "p.?" "" "0001035737" "00018549" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Cys95Tyr)" "" "0001035738" "00018549" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Gly121Ser)" "" "0001035739" "00018549" "50" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Arg293His)" "" "0001035740" "00018549" "50" "1094" "0" "1094" "0" "c.1094G>C" "r.(?)" "p.(Arg365Pro)" "" "0001035741" "00018549" "50" "1169" "0" "1169" "0" "c.1169T>C" "r.(?)" "p.(Leu390Pro)" "" "0001035742" "00018549" "30" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Arg434Gln)" "" "0001035743" "00018549" "50" "2405" "0" "2405" "0" "c.2405G>A" "r.(?)" "p.(Arg802His)" "" "0001035744" "00018549" "50" "2854" "0" "2854" "0" "c.2854T>A" "r.(?)" "p.(Phe952Ile)" "" "0001035745" "00018549" "50" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0001052331" "00018549" "50" "86" "-6" "86" "-6" "c.86-6T>C" "r.(=)" "p.(=)" "" "0001052332" "00018549" "50" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Thr211Met)" "" "0001052333" "00018549" "50" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0001052334" "00018549" "50" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Arg538Gln)" "" "0001052335" "00018549" "50" "2053" "0" "2055" "0" "c.2053_2055del" "r.(?)" "p.(Asn685del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000156093" "0000357986" "0000325669" "0000708805" "0000325670" "0000708806" "0000325671" "0000708807" "0000325672" "0000708808" "0000325673" "0000708809" "0000325674" "0000708810" "0000325675" "0000708811" "0000325676" "0000708812" "0000325677" "0000708813" "0000325678" "0000708814" "0000325679" "0000708815" "0000325680" "0000708816" "0000325681" "0000708817" "0000325682" "0000708818" "0000325683" "0000708819" "0000328833" "0000712954"