### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KDELR2) # 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}}" "KDELR2" "KDEL endoplasmic reticulum protein retention receptor 2" "7" "p22.1" "unknown" "NC_000007.13" "UD_145627731981" "" "https://www.LOVD.nl/KDELR2" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "6305" "11014" "609024" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/KDELR2_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00085" "2022-04-05 12:59:26" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024641" "KDELR2" "KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2, transcript variant 2" "001" "NM_001100603.1" "" "NP_001094073.1" "" "" "" "-161" "2446" "561" "6523849" "6500712" "00000" "2017-08-08 13:18:58" "" "" "00025561" "KDELR2" "KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2, transcript variant 1" "002" "NM_006854.3" "" "NP_006845.1" "" "" "" "-161" "2699" "639" "6523849" "6500712" "00006" "2020-10-16 19:24:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05934" "OI21" "osteogenesis imperfecta, type XXI (OI21)" "AR" "619131" "" "" "" "00006" "2021-05-16 21:32:09" "00006" "2021-05-16 21:39:27" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KDELR2" "05296" "KDELR2" "05934" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00314754" "" "" "" "1" "" "00006" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "P1" "00314755" "" "" "" "2" "" "00006" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "5-generation family, affected sister/brother, unaffected parents" "F" "yes" "Netherlands" "" "0" "" "" "" "P2-1" "00314756" "" "" "00314755" "1" "" "00006" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "brother" "M" "yes" "Netherlands" "" "0" "" "" "" "P2-2a" "00314757" "" "" "" "2" "" "00006" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Spain" "" "0" "" "" "" "P3" "00314758" "" "" "" "2" "" "00006" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "no" "Netherlands" "" "0" "" "" "" "P4-1" "00314759" "" "" "00314758" "1" "" "00006" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "brother" "M" "no" "Netherlands" "" "0" "" "" "" "P4-2" "00373655" "" "" "" "1" "" "00006" "{PMID:Efthymiou 2021:33964184}" "2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam2Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00314754" "05296" "00314755" "05296" "00314756" "05296" "00314757" "05296" "00314758" "05296" "00314759" "05296" "00373655" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05296, 05934 ## Count = 7 "{{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}}" "0000238552" "05296" "00314754" "00006" "Familial, autosomal recessive" "14y" "first assessment 5y; height 130 cm; no confirmed prenatal fractures; no wormian bones; 40m-first fracture; 12 fractures; 10y-last fracture right femur; white sclera; no dentinogenesis imperfecta; hypermobility of joints; no hearing impairment; barrel shaped chest with pectus excavatum; no cardiac abnormalities; vertebral fractures; no scoliosis; no bowing of upper extremities; no bowing of lower extremities; no shortening of upper extremities; no shortening of lower extremities; surgical correction for bone deformation; mobile; no intellectual disability" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000238553" "05296" "00314755" "00006" "Familial, autosomal recessive" "39y" "first assessment 29y; height 121 cm; no confirmed prenatal fractures; 32m-first fracture; 26 fractures; 28y-last fracture right femur right, 29y-right femoral neck; white sclera; no dentinogenesis imperfecta; hypermobility of joints; no hearing impairment; barrel shaped chest with pectus excavatum; no cardiac abnormalities; vertebral fractures; scoliosis; bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities; surgical correction for bone deformation; 4.5y-wheelchair bound; no intellectual disability" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000238554" "05296" "00314756" "00006" "Familial, autosomal recessive" "" "height 115 cm; no confirmed prenatal fractures; 25y-15 fractures; white sclera; no dentinogenesis imperfecta; no hearing impairment; chest deformity; cardiac abnormalities; scoliosis; bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities; surgical correction for bone deformation; wheelchair bound; no intellectual disability" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000238555" "05296" "00314757" "00006" "Familial, autosomal recessive" "43y" "first assessment 1.5m; height 138 cm; no confirmed prenatal fractures; wormian bones; 24m-first fracture; >30 fractures; 37y-last fracture right femur; white sclera; no dentinogenesis imperfecta; hypermobility of joints; no hearing impairment; bell shaped chest; vertebral fractures; scoliosis; bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities; surgical correction for bone deformation; 18y-wheelchair bound; no intellectual disability" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000238556" "05296" "00314758" "00006" "Familial, autosomal recessive" "" "first assessment 24wgestation; confirmed prenatal fractures; <0d-first fracture (in utero); no chest deformity; no cardiac abnormalities; no scoliosis; no bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000238557" "05296" "00314759" "00006" "Familial, autosomal recessive" "" "confirmed prenatal fractures; <0d-first fracture (in utero); no chest deformity; no cardiac abnormalities; no scoliosis; no bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000268928" "05296" "00373655" "00006" "Familial, autosomal recessive" "04y03m" "height 83.5 cm (−3), weight 10.2 kg (−3.5), OFC 50.5 cm (1.1); Wormian bones; prenatal fractures, 21d-first fracture, >2 sustained fractures, 4y-last fracture; sclera blue; dentinogenesis imperfecta; joint hypermobility; no hearing impairment; Barrel shaped chest deformity, asymmetrical mild carinatum, increased A‐P; mild mitral and tricuspid regurgitation; vertebral fractures; scoliosis; no bowing of upper extremities, bowing of lower extremities, no shortening of upper extremities, no shortening of lower extremities, no surgical correction for bone deformation; 2m-bisphosphonate treatment; no vascular abnormalities; normal skin/nails; CT head normal; mobility walks; hypotonia; no muscle weakness; speech delay; motor delay; 2 family miscarriages" "" "" "" "" "" "" "" "OI21" "osteogenesis imperfecta" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000315928" "00314754" "1" "00006" "00006" "2020-10-16 20:38:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315929" "00314755" "1" "00006" "00006" "2020-10-16 20:38:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315930" "00314756" "1" "00006" "00006" "2020-10-16 20:38:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315931" "00314757" "1" "00006" "00006" "2020-10-16 20:38:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315932" "00314758" "1" "00006" "00006" "2020-10-16 20:38:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315933" "00314759" "1" "00006" "00006" "2020-10-16 20:38:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374888" "00373655" "1" "00006" "00006" "2021-05-17 20:01:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000315928" "KDELR2" "0000315929" "KDELR2" "0000315930" "KDELR2" "0000315931" "KDELR2" "0000315932" "KDELR2" "0000315933" "KDELR2" "0000374888" "KDELR2" ## 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 = 22 "{{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}}" "0000532434" "0" "50" "7" "6505946" "6505946" "subst" "0" "01804" "KDELR2_000001" "g.6505946C>T" "" "" "" "KDELR2(NM_006854.3):c.360G>A (p.(Trp120Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6466315C>T" "" "VUS" "" "0000532435" "0" "50" "7" "6523655" "6523655" "subst" "0" "01804" "KDELR2_000002" "g.6523655G>C" "" "" "" "KDELR2(NM_001100603.1):c.34C>G (p.(His12Asp)), KDELR2(NM_006854.4):c.34C>G (p.H12D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6484024G>C" "" "VUS" "" "0000532436" "0" "50" "7" "6523655" "6523655" "subst" "0" "02329" "KDELR2_000002" "g.6523655G>C" "" "" "" "KDELR2(NM_001100603.1):c.34C>G (p.(His12Asp)), KDELR2(NM_006854.4):c.34C>G (p.H12D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6484024G>C" "" "VUS" "" "0000621914" "0" "10" "7" "6505901" "6505901" "subst" "0.874451" "02329" "KDELR2_000003" "g.6505901T>C" "" "" "" "KDELR2(NM_006854.4):c.405A>G (p.L135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6466270T>C" "" "benign" "" "0000698034" "3" "90" "2" "6505860" "6505860" "dup" "0" "00006" "KDELR2_000001" "g.6505860dup" "" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "" "" "" "Germline" "" "" "0" "" "" "g.6466229dup" "" "pathogenic (recessive)" "" "0000698035" "3" "90" "2" "6523655" "6523655" "subst" "0" "00006" "KDELR2_000004" "g.6523655G>C" "" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6484024G>C" "" "pathogenic (recessive)" "" "0000698036" "3" "90" "2" "6523655" "6523655" "subst" "0" "00006" "KDELR2_000004" "g.6523655G>C" "" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6484024G>C" "" "pathogenic (recessive)" "" "0000698037" "3" "90" "2" "6505908" "6505908" "subst" "0" "00006" "KDELR2_000002" "g.6505908G>A" "" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "" "" "" "Germline" "" "" "0" "" "" "g.6466277G>A" "" "pathogenic (recessive)" "" "0000698038" "1" "90" "2" "6523655" "6523655" "subst" "0" "00006" "KDELR2_000004" "g.6523655G>C" "" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6484024G>C" "" "pathogenic (recessive)" "" "0000698039" "1" "90" "2" "6523655" "6523655" "subst" "0" "00006" "KDELR2_000004" "g.6523655G>C" "" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6484024G>C" "" "pathogenic (recessive)" "" "0000698040" "2" "90" "2" "6505946" "6505946" "subst" "0" "00006" "KDELR2_000003" "g.6505946C>T" "" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6466315C>T" "" "pathogenic (recessive)" "" "0000698041" "2" "90" "2" "6505946" "6505946" "subst" "0" "00006" "KDELR2_000003" "g.6505946C>T" "" "{DOI:Van Dijk 2020:10.1016/j.ajhg.2020.09.009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6466315C>T" "" "pathogenic (recessive)" "" "0000785736" "3" "90" "7" "6505821" "6505821" "subst" "0" "00006" "KDELR2_000005" "g.6505821T>C" "" "{PMID:Efthymiou 2021:33964184}" "" "" "" "Germline" "" "" "0" "" "" "g.6466190T>C" "" "pathogenic (recessive)" "" "0000851650" "0" "30" "7" "6505754" "6505754" "subst" "2.03054E-5" "02329" "KDELR2_000006" "g.6505754G>A" "" "" "" "KDELR2(NM_006854.4):c.552C>T (p.G184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860883" "0" "10" "7" "6523700" "6523702" "dup" "0" "02329" "KDELR2_000007" "g.6523700_6523702dup" "" "" "" "KDELR2(NM_006854.4):c.-1_1insGCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887957" "0" "30" "7" "6509245" "6509245" "subst" "8.12632E-6" "02329" "KDELR2_000008" "g.6509245G>A" "" "" "" "KDELR2(NM_006854.4):c.333C>T (p.H111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929367" "0" "30" "7" "6505853" "6505853" "subst" "0.000284241" "02329" "KDELR2_000009" "g.6505853G>A" "" "" "" "KDELR2(NM_006854.4):c.453C>T (p.Y151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964645" "0" "30" "7" "6509439" "6509439" "subst" "0" "02329" "KDELR2_000010" "g.6509439C>T" "" "" "" "KDELR2(NM_006854.4):c.193-54G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964646" "0" "30" "7" "6523674" "6523674" "subst" "0" "02329" "KDELR2_000011" "g.6523674C>T" "" "" "" "KDELR2(NM_006854.4):c.15G>A (p.R5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977801" "0" "50" "7" "6505921" "6505921" "subst" "0" "01804" "KDELR2_000012" "g.6505921C>G" "" "" "" "KDELR2(NM_006854.4):c.385G>C (p.(Val129Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025423" "0" "70" "7" "6509298" "6509298" "subst" "0" "02329" "KDELR2_000013" "g.6509298G>A" "" "" "" "KDELR2(NM_006854.4):c.280C>T (p.R94*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036475" "0" "30" "7" "6509297" "6509297" "subst" "0.000633461" "01804" "KDELR2_000014" "g.6509297C>T" "" "" "" "KDELR2(NM_006854.4):c.281G>A (p.(Arg94Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 KDELR2 ## Count = 36 "{{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}}" "0000532434" "00024641" "50" "352" "-3140" "352" "-3140" "c.352-3140G>A" "r.(=)" "p.(=)" "" "0000532434" "00025561" "50" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Trp120Ter)" "" "0000532435" "00024641" "50" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(His12Asp)" "" "0000532435" "00025561" "50" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(His12Asp)" "" "0000532436" "00024641" "50" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(His12Asp)" "" "0000532436" "00025561" "50" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(His12Asp)" "" "0000621914" "00024641" "10" "352" "-3095" "352" "-3095" "c.352-3095A>G" "r.(=)" "p.(=)" "" "0000621914" "00025561" "10" "405" "0" "405" "0" "c.405A>G" "r.(?)" "p.(Leu135=)" "" "0000698034" "00025561" "90" "448" "0" "448" "0" "c.448dup" "r.(?)" "p.(His150Profs*24)" "" "0000698035" "00025561" "90" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(His12Asp)" "" "0000698036" "00025561" "90" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(His12Asp)" "" "0000698037" "00025561" "90" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Pro133Leu)" "" "0000698038" "00025561" "90" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(His12Asp)" "" "0000698039" "00025561" "90" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(His12Asp)" "" "0000698040" "00025561" "90" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Trp120*)" "" "0000698041" "00025561" "90" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Trp120*)" "" "0000785736" "00024641" "90" "352" "-3015" "352" "-3015" "c.352-3015A>G" "r.(?)" "p.(=)" "" "0000785736" "00025561" "90" "485" "0" "485" "0" "c.485A>G" "r.(?)" "p.(Tyr162Cys)" "" "0000851650" "00024641" "30" "352" "-2948" "352" "-2948" "c.352-2948C>T" "r.(=)" "p.(=)" "" "0000851650" "00025561" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Gly184=)" "" "0000860883" "00024641" "10" "-3" "0" "-1" "0" "c.-3_-1dup" "r.(?)" "p.(=)" "" "0000860883" "00025561" "10" "-3" "0" "-1" "0" "c.-3_-1dup" "r.(?)" "p.(=)" "" "0000887957" "00024641" "30" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(His111=)" "" "0000887957" "00025561" "30" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(His111=)" "" "0000929367" "00024641" "30" "352" "-3047" "352" "-3047" "c.352-3047C>T" "r.(=)" "p.(=)" "" "0000929367" "00025561" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(=)" "" "0000964645" "00024641" "30" "193" "-54" "193" "-54" "c.193-54G>A" "r.(=)" "p.(=)" "" "0000964645" "00025561" "30" "193" "-54" "193" "-54" "c.193-54G>A" "r.(=)" "p.(=)" "" "0000964646" "00024641" "30" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(=)" "" "0000964646" "00025561" "30" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(=)" "" "0000977801" "00024641" "50" "352" "-3115" "352" "-3115" "c.352-3115G>C" "r.(=)" "p.(=)" "" "0000977801" "00025561" "50" "385" "0" "385" "0" "c.385G>C" "r.(?)" "p.(Val129Leu)" "" "0001025423" "00024641" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94*)" "" "0001025423" "00025561" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94*)" "" "0001036475" "00024641" "30" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94Gln)" "" "0001036475" "00025561" "30" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000315928" "0000698034" "0000315929" "0000698035" "0000315930" "0000698036" "0000315931" "0000698037" "0000315932" "0000698038" "0000315932" "0000698040" "0000315933" "0000698039" "0000315933" "0000698041" "0000374888" "0000785736"