### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPL13) # 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}}" "RPL13" "ribosomal protein L13" "16" "q24.3" "unknown" "NC_000016.9" "UD_136090908233" "" "https://www.LOVD.nl/RPL13" "" "1" "10303" "6137" "113703" "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/RPL13_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-23 19:59:31" "00006" "2025-11-21 17:44:58" ## 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}}" "00018090" "RPL13" "transcript variant 1" "001" "NM_000977.3" "" "NP_000968.2" "" "" "" "-76" "4423" "636" "89627065" "89633237" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "05346" "SEMD" "dysplasia, spondyloepimetaphyseal (SEMD)" "" "" "" "" "" "00006" "2017-11-17 14:28:27" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06323" "SEMDIST" "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type" "AD" "618728" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RPL13" "05346" "RPL13" "06323" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00266391" "" "" "" "1" "" "00006" "{PMID:Le Caignec 2019:31630789}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam1Pat1" "00266392" "" "" "" "1" "" "00006" "{PMID:Le Caignec 2019:31630789}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam2Patt1" "00266393" "" "" "" "1" "" "00006" "{PMID:Le Caignec 2019:31630789}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam3Pat1" "00266394" "" "" "" "1" "" "00006" "{PMID:Le Caignec 2019:31630789}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Fam4Pat1" "00291600" "" "" "" "44" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291601" "" "" "" "42" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304549" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00464068" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "321298" "00469819" "" "" "" "8" "" "00006" "{PMID:Jacob 2023:37993442}, {PMID:Jacob 2025:39706863}" "3-generation family, 8 affected (3F, 5M)" "M" "" "India" "" "0" "" "" "" "Fam1PatII6;?" "00469820" "" "" "" "1" "" "00006" "{PMID:Jacob 2023:37993442}, {PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "India" "" "0" "" "" "" "Fam2PatII2;?" "00469915" "" "" "00469819" "1" "" "00006" "{PMID:Jacob 2023:37993442}" "brother" "M" "" "India" "" "0" "" "" "Asia" "Fam1PatII5" "00469916" "" "" "00469819" "1" "" "00006" "{PMID:Jacob 2023:37993442}" "son" "M" "" "India" "" "0" "" "" "Asia" "Fam1PatIII4" "00469917" "" "" "" "1" "" "00006" "{PMID:Jacob 2023:37993442}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Brazil" "" "0" "" "" "mixed" "Fam3Pat" "00469918" "" "" "" "2" "" "00006" "{PMID:Jacob 2023:37993442}" "2-generation family, affected sister/brother, unaffected non-carrier parents (likely germline mosaicism)" "F" "" "Turkey" "" "0" "" "" "" "Fam4PatII1" "00469919" "" "" "00469918" "1" "" "00006" "{PMID:Jacob 2023:37993442}" "brother" "M" "" "Turkey" "" "0" "" "" "" "Fam4PatII4" "00469920" "" "" "" "2" "" "00006" "{PMID:Jacob 2023:37993442}" "2-generation family, affected mother/daughter" "F" "" "" "" "0" "" "" "Europe-N" "Fam5PatIII1" "00469921" "" "" "00469920" "1" "" "00006" "{PMID:Jacob 2023:37993442}" "daughter" "F" "" "" "" "0" "" "" "Europe-N" "Fam5PatII2" "00469922" "" "" "" "1" "" "00006" "{PMID:Jacob 2023:37993442}" "2-generation family, 1 affected, somatci mosaicism father" "M" "" "" "" "0" "" "" "Hispanic" "Fam6PatII1" "00469923" "" "" "" "5" "" "00006" "{PMID:Jacob 2023:37993442}" "3-generation family, 5 affected (grandmother, mother, 2 half-brothers, half-sister)" "M" "" "South Africa" "" "0" "" "" "" "Fam7PatIII2" "00469924" "" "" "00469923" "1" "" "00006" "{PMID:Jacob 2023:37993442}" "sister" "F" "" "South Africa" "" "0" "" "" "" "Fam7PatIII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00266391" "05346" "00266392" "05346" "00266393" "05346" "00266394" "05346" "00291600" "00198" "00291601" "00198" "00304549" "00198" "00464068" "06323" "00469819" "05517" "00469820" "05517" "00469915" "05517" "00469916" "05517" "00469917" "05517" "00469918" "05517" "00469919" "05517" "00469920" "05517" "00469921" "05517" "00469922" "05517" "00469923" "05517" "00469924" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05346, 05517, 06323 ## 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}}" "0000204161" "05346" "00266391" "00006" "Isolated (sporadic)" "" "no short prenatal length (<2SD); short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; no upper limbs epiphyseal changes; coxa vara; no short phalanges hand" "" "" "" "" "" "" "" "" "" "spondyloepimetaphyseal dysplasia" "" "0000204162" "05346" "00266392" "00006" "Isolated (sporadic)" "" "no short prenatal length (<2SD); short stature; genu varum; scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; no upper limbs epiphyseal changes; coxa vara; no short phalanges hand" "" "" "" "" "" "" "" "" "" "spondyloepimetaphyseal dysplasia" "" "0000204163" "05346" "00266393" "00006" "Isolated (sporadic)" "" "no short prenatal length (<2SD); short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; bowed femora; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; upper limbs epiphyseal changes; coxa vara; no short phalanges hand" "" "" "" "" "" "" "" "" "" "spondyloepimetaphyseal dysplasia" "" "0000204164" "05346" "00266394" "00006" "Isolated (sporadic)" "" "no short prenatal length (<2SD); mild short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; bowed femora; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; no upper limbs epiphyseal changes; coxa vara; no short phalanges hand" "" "" "" "" "" "" "" "" "" "spondyloepimetaphyseal dysplasia" "" "0000350129" "06323" "00464068" "01164" "Familial, autosomal dominant" "01y" "Short stature, Hyperlordosis, Disproportionate short stature; father and grandfather affected" "" "" "" "" "" "" "" "" "" "" "" "0000354964" "05517" "00469819" "00006" "Familial, autosomal dominant" "41y" "see paper; ..., short stature, height SD-5.0; no chest anomalies; genu varum; no patellar luxation; joint hyper laxity" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000354965" "05517" "00469820" "00006" "Isolated (sporadic)" "09y" "see paper; ..., short stature, height SD-0.6; mild pectus excavatum; no scoliosis; coxa vara; no genu varum; no patellar luxation; no joint hyper laxity" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355060" "05517" "00469915" "00006" "Familial, autosomal dominant" "35y" "see paper; ..., short stature, height SD-5.8; no chest anomalies; unilateral genu varum; no patellar luxation; joint hyper laxity" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355061" "05517" "00469916" "00006" "Familial, autosomal dominant" "3y" "see paper; ..., short stature, height SD-3.5; mild pectus carinatum; no scoliosis; coxa vara; genu varum; no patellar luxation; joint hyper laxity" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355062" "05517" "00469917" "00006" "Isolated (sporadic)" "20y" "see paper; ..., short stature, height SD-3.9; no chest anomalies; no scoliosis; severe coxa vara; genu varum; no patellar luxation; no joint hyper laxity" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355063" "05517" "00469918" "00006" "Isolated (sporadic)" "31y" "see paper; ..., short stature, height SD-1.2; no chest anomalies; no scoliosis; mild coxa vara; no genu varum; patellar luxation; no joint hyper laxity" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355064" "05517" "00469919" "00006" "Isolated (sporadic)" "24y" "see paper; ..., short stature, height SD-2.5; pectus excavatum; mild scoliosis; mild coxa vara; no genu varum; no patellar luxation; no joint hyper laxity; pes planus" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355065" "05517" "00469920" "00006" "Unknown" "25y" "see paper; ..., short stature, height SD-3.1; mild pectus excavatum; no scoliosis; coxa vara; genu varum; patellar luxation; no joint hyper laxity" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355066" "05517" "00469921" "00006" "Familial, autosomal dominant" "64y" "see paper; ..., short stature, height SD-1.2; no chest anomalies; no scoliosis; mild coxa vara; genu varum; no patellar luxation; no joint hyper laxity; hip replacement surgery, arthrosis" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355067" "05517" "00469922" "00006" "Isolated (sporadic)" "7y" "see paper; ..., short stature, height SD-2.4; no chest anomalies; no scoliosis; mild coxa vara; no genu varum; no patellar luxation; joint hyper laxity; mild genu valgum, pes planus" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355068" "05517" "00469923" "00006" "Familial, autosomal dominant" "6y" "see paper; ..., short stature, height SD-3.2; no chest anomalies; no scoliosis; no coxa vara; no genu varum; no patellar luxation; joint hyper laxity; genu valgum, pes planus" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" "0000355069" "05517" "00469924" "00006" "Familial, autosomal dominant" "2y" "see paper; ..., short stature, height SD-3.2; no chest anomalies; no scoliosis; no coxa vara; genu varum; no patellar luxation; joint hyper laxity; pes planus" "" "" "" "" "" "" "" "" "SEMDIST" "spondyloepimetaphyseal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000267518" "00266391" "1" "00006" "00006" "2019-10-25 13:55:31" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000267519" "00266392" "1" "00006" "00006" "2019-10-25 13:55:31" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000267520" "00266393" "1" "00006" "00006" "2019-10-25 13:55:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267521" "00266394" "1" "00006" "00006" "2019-10-25 13:55:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000292768" "00291600" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292769" "00291601" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305678" "00304549" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000465699" "00464068" "1" "01164" "01164" "2025-02-19 15:57:23" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000471487" "00469819" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471488" "00469820" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471583" "00469915" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471584" "00469916" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471585" "00469917" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471586" "00469918" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471587" "00469919" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471588" "00469920" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471589" "00469921" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471590" "00469922" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471591" "00469923" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471592" "00469924" "1" "00006" "00006" "2025-11-21 17:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000267518" "RPL13" "0000267519" "RPL13" "0000267520" "RPL13" "0000267521" "RPL13" "0000465699" "RPL13" ## 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 = 140 "{{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}}" "0000311488" "0" "50" "16" "89611101" "89611101" "subst" "1.21828E-5" "02325" "SPG7_000034" "g.89611101G>A" "" "" "" "SPG7(NM_003119.4):c.1370G>A (p.R457Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89544693G>A" "" "VUS" "" "0000311489" "0" "30" "16" "89611153" "89611153" "subst" "4.46831E-5" "02325" "SPG7_000036" "g.89611153C>T" "" "" "" "SPG7(NM_003119.4):c.1422C>T (p.H474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89544745C>T" "" "likely benign" "" "0000311490" "0" "30" "16" "89613073" "89613073" "subst" "0.00466893" "02325" "SPG7_000037" "g.89613073G>A" "" "" "" "SPG7(NM_003119.4):c.1457G>A (p.R486Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89546665G>A" "" "likely benign" "" "0000311491" "0" "90" "16" "89613145" "89613145" "subst" "0.00287905" "02325" "SPG7_000003" "g.89613145C>T" "" "" "" "SPG7(NM_001363850.1):c.1529C>T (p.A510V), SPG7(NM_003119.2):c.1529C>T (p.(Ala510Val)), SPG7(NM_003119.4):c.1529C>T (p.A510V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89546737C>T" "" "pathogenic" "" "0000311492" "0" "30" "16" "89614451" "89614451" "subst" "0.000122642" "02325" "SPG7_000038" "g.89614451C>T" "" "" "" "SPG7(NM_003119.4):c.1593C>T (p.H531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89548043C>T" "" "likely benign" "" "0000311493" "0" "10" "16" "89614511" "89614511" "subst" "0.000853078" "02325" "SPG7_000039" "g.89614511C>T" "" "" "" "SPG7(NM_003119.4):c.1653C>T (p.R551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89548103C>T" "" "benign" "" "0000311499" "0" "50" "16" "89620971" "89620971" "subst" "1.25372E-5" "02325" "SPG7_000042" "g.89620971G>A" "" "" "" "SPG7(NM_003119.2):c.2181G>A (p.(Ala727=)), SPG7(NM_003119.4):c.2181G>A (p.A727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89554563G>A" "" "VUS" "" "0000315586" "0" "50" "16" "89611140" "89611140" "subst" "0" "01943" "SPG7_000035" "g.89611140G>T" "" "" "" "SPG7(NM_003119.3):c.1409G>T (p.R470L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89544732G>T" "" "VUS" "" "0000315587" "0" "90" "16" "89613145" "89613145" "subst" "0.00287905" "01943" "SPG7_000003" "g.89613145C>T" "" "" "" "SPG7(NM_001363850.1):c.1529C>T (p.A510V), SPG7(NM_003119.2):c.1529C>T (p.(Ala510Val)), SPG7(NM_003119.4):c.1529C>T (p.A510V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89546737C>T" "" "pathogenic" "" "0000315588" "0" "10" "16" "89614534" "89614534" "subst" "0.0539916" "01943" "SPG7_000040" "g.89614534C>T" "" "" "" "SPG7(NM_003119.3):c.1663+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89548126C>T" "" "benign" "" "0000315592" "0" "90" "16" "89620905" "89620921" "del" "0" "01943" "SPG7_000041" "g.89620905_89620921del" "" "" "" "SPG7(NM_003119.2):c.2115_2131del (p.(Leu706GlnfsTer30)), SPG7(NM_003119.3):c.2115_2131delGCTGGTGGCCAAGGCCT (p.L706Qfs*30), SPG7(NM_003119.4):c.2115..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89554497_89554513del" "" "pathogenic" "" "0000315593" "0" "30" "16" "89623388" "89623388" "subst" "0.000552338" "01943" "RPL13_000001" "g.89623388G>A" "" "" "" "SPG7(NM_003119.2):c.2275G>A (p.(Ala759Thr)), SPG7(NM_003119.3):c.2275G>A (p.A759T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89556980G>A" "" "likely benign" "" "0000338861" "0" "10" "16" "89611199" "89611199" "subst" "0.101442" "02327" "SPG7_000054" "g.89611199G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89544791G>A" "" "benign" "" "0000338862" "0" "10" "16" "89613181" "89613181" "subst" "0" "02327" "SPG7_000057" "g.89613181C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89546773C>T" "" "benign" "" "0000338864" "0" "10" "16" "89614534" "89614534" "subst" "0.0539916" "02327" "SPG7_000040" "g.89614534C>T" "" "" "" "SPG7(NM_003119.3):c.1663+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89548126C>T" "" "benign" "" "0000340540" "0" "10" "16" "89611153" "89611153" "subst" "4.46831E-5" "02327" "SPG7_000036" "g.89611153C>T" "" "" "" "SPG7(NM_003119.4):c.1422C>T (p.H474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89544745C>T" "" "benign" "" "0000340541" "0" "10" "16" "89614511" "89614511" "subst" "0.000853078" "02327" "SPG7_000039" "g.89614511C>T" "" "" "" "SPG7(NM_003119.4):c.1653C>T (p.R551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89548103C>T" "" "benign" "" "0000340542" "0" "10" "16" "89623393" "89623393" "subst" "0.012485" "02327" "RPL13_000002" "g.89623393G>A" "" "" "" "SPG7(NM_003119.4):c.2280G>A (p.P760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89556985G>A" "" "benign" "" "0000340543" "0" "10" "16" "89623405" "89623405" "subst" "0.0286391" "02327" "RPL13_000003" "g.89623405C>T" "" "" "" "SPG7(NM_003119.4):c.2292C>T (p.I764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89556997C>T" "" "benign" "" "0000340544" "0" "10" "16" "89623408" "89623408" "subst" "0.00268889" "02327" "RPL13_000004" "g.89623408C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89557000C>T" "" "benign" "" "0000341546" "0" "10" "16" "89620302" "89620302" "subst" "0.00407438" "02327" "SPG7_000065" "g.89620302G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89553894G>A" "" "benign" "" "0000341583" "0" "30" "16" "89623388" "89623388" "subst" "0.000552338" "02327" "RPL13_000001" "g.89623388G>A" "" "" "" "SPG7(NM_003119.2):c.2275G>A (p.(Ala759Thr)), SPG7(NM_003119.3):c.2275G>A (p.A759T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89556980G>A" "" "likely benign" "" "0000342984" "0" "50" "16" "89613069" "89613069" "subst" "2.43696E-5" "02327" "SPG7_000055" "g.89613069A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89546661A>G" "" "VUS" "" "0000343267" "0" "10" "16" "89620328" "89620328" "subst" "0.147144" "02327" "SPG7_000066" "g.89620328G>A" "" "" "" "SPG7(NM_003119.4):c.2063G>A (p.R688Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89553920G>A" "" "benign" "" "0000344165" "0" "50" "16" "89620213" "89620213" "subst" "0" "02327" "SPG7_000064" "g.89620213G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89553805G>T" "" "VUS" "" "0000344902" "0" "90" "16" "89616940" "89616940" "subst" "0" "02327" "SPG7_000061" "g.89616940C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89550532C>T" "" "pathogenic" "" "0000345489" "0" "90" "16" "89616994" "89616994" "subst" "0" "02327" "SPG7_000004" "g.89616994G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89550586G>T" "" "pathogenic" "" "0000346199" "0" "50" "16" "89619501" "89619501" "subst" "4.09578E-6" "02327" "SPG7_000063" "g.89619501G>A" "" "" "" "SPG7(NM_003119.3):c.1894G>A (p.G632R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89553093G>A" "" "VUS" "" "0000346513" "0" "70" "16" "89620367" "89620367" "subst" "2.88669E-5" "02327" "SPG7_000068" "g.89620367A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89553959A>C" "" "likely pathogenic" "" "0000347886" "0" "90" "16" "89620361" "89620361" "dup" "0" "02327" "SPG7_000067" "g.89620361dup" "" "" "" "SPG7(NM_003119.2):c.2096dup, SPG7(NM_003119.2):c.2096dupT (p.(Met699fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89553953dup" "" "pathogenic" "" "0000349541" "0" "10" "16" "89613123" "89613123" "subst" "0.148174" "02327" "SPG7_000056" "g.89613123A>G" "" "" "" "SPG7(NM_003119.4):c.1507A>G (p.T503A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89546715A>G" "" "benign" "" "0000349831" "0" "70" "16" "89616987" "89616987" "subst" "0" "02327" "SPG7_000062" "g.89616987G>C" "" "" "" "SPG7(NM_003119.4):c.1749G>C (p.W583C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89550579G>C" "" "likely pathogenic" "" "0000559937" "0" "30" "16" "89611081" "89611081" "subst" "2.84257E-5" "02327" "RPL13_000005" "g.89611081C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89544673C>A" "" "likely benign" "" "0000559938" "0" "30" "16" "89611118" "89611118" "subst" "4.06108E-6" "01943" "RPL13_000006" "g.89611118G>C" "" "" "" "SPG7(NM_003119.3):c.1387G>C (p.G463R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89544710G>C" "" "likely benign" "" "0000559939" "0" "90" "16" "89613070" "89613078" "del" "0" "02325" "SPG7_000002" "g.89613070_89613078del" "" "" "" "SPG7(NM_001363850.1):c.1450-1_1457delGGAGAGGCG, SPG7(NM_003119.4):c.1450-1_1457delGGAGAGGCG, SPG7(NM_003119.4):c.1454_1462del (p.(Arg485_Glu487del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89546662_89546670del" "" "pathogenic" "" "0000559940" "0" "30" "16" "89613083" "89613083" "subst" "0" "01943" "RPL13_000007" "g.89613083T>C" "" "" "" "SPG7(NM_003119.3):c.1467T>C (p.F489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89546675T>C" "" "likely benign" "" "0000559941" "0" "10" "16" "89617037" "89617037" "subst" "0.000678337" "02330" "RPL13_000008" "g.89617037G>A" "" "" "" "SPG7(NM_003119.4):c.1779+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89550629G>A" "" "benign" "" "0000559942" "0" "30" "16" "89619493" "89619493" "subst" "0" "01943" "RPL13_000009" "g.89619493C>G" "" "" "" "SPG7(NM_003119.3):c.1886C>G (p.A629G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89553085C>G" "" "likely benign" "" "0000559943" "0" "50" "16" "89619540" "89619540" "subst" "0.000798973" "02330" "RPL13_000010" "g.89619540T>A" "" "" "" "SPG7(NM_001363850.1):c.1933T>A (p.S645T), SPG7(NM_003119.4):c.1933T>A (p.S645T, p.(Ser645Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89553132T>A" "" "VUS" "" "0000559944" "0" "10" "16" "89620186" "89620186" "subst" "0.0032419" "02330" "RPL13_000011" "g.89620186C>G" "" "" "" "SPG7(NM_003119.4):c.1937-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89553778C>G" "" "benign" "" "0000559945" "0" "10" "16" "89620187" "89620187" "subst" "4.08123E-5" "02330" "RPL13_000012" "g.89620187G>A" "" "" "" "SPG7(NM_003119.4):c.1937-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89553779G>A" "" "benign" "" "0000559946" "0" "50" "16" "89620204" "89620204" "subst" "7.33221E-5" "02325" "RPL13_000013" "g.89620204G>T" "" "" "" "SPG7(NM_003119.4):c.1939G>T (p.(Ala647Ser), p.A647S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89553796G>T" "" "VUS" "" "0000559947" "0" "50" "16" "89620231" "89620231" "subst" "1.627E-5" "02327" "RPL13_000014" "g.89620231C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89553823C>T" "" "VUS" "" "0000559948" "0" "30" "16" "89629311" "89629311" "subst" "0.000350019" "02327" "RPL13_000015" "g.89629311C>T" "" "" "" "RPL13(NM_000977.4):c.497C>T (p.(Ala166Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89562903C>T" "" "likely benign" "" "0000598580" "0" "90" "16" "89628800" "89628800" "subst" "0" "00006" "RPL13_000016" "g.89628800G>T" "" "{PMID:Le Caignec 2019:31630789}" "" "" "" "De novo" "" "" "0" "" "" "g.89562392G>T" "" "pathogenic (dominant)" "" "0000598581" "0" "90" "16" "89628801" "89628801" "subst" "0" "00006" "RPL13_000018" "g.89628801T>C" "" "{PMID:Le Caignec 2019:31630789}" "" "" "" "De novo" "" "" "0" "" "" "g.89562393T>C" "" "pathogenic (dominant)" "" "0000598582" "0" "90" "16" "89628800" "89628800" "subst" "0" "00006" "RPL13_000017" "g.89628800G>A" "" "{PMID:Le Caignec 2019:31630789}" "" "" "" "De novo" "" "" "0" "" "" "g.89562392G>A" "" "pathogenic (dominant)" "" "0000598583" "0" "90" "16" "89629362" "89629362" "subst" "0" "00006" "RPL13_000019" "g.89629362G>C" "" "{PMID:Le Caignec 2019:31630789}" "" "" "" "De novo" "" "" "0" "" "" "g.89562954G>C" "" "pathogenic (dominant)" "" "0000623584" "0" "50" "16" "89613073" "89613073" "subst" "4.16497E-6" "02325" "RPL13_000020" "g.89613073G>T" "" "" "" "SPG7(NM_003119.4):c.1457G>T (p.R486L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89546665G>T" "" "VUS" "" "0000649457" "1" "50" "16" "89623393" "89623393" "subst" "0.012485" "03575" "RPL13_000002" "g.89623393G>A" "44/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 44 heterozygous; {DB:CLININrs11559075}" "Germline" "" "rs11559075" "0" "" "" "g.89556985G>A" "" "VUS" "" "0000649458" "1" "10" "16" "89623405" "89623405" "subst" "0.0286391" "03575" "RPL13_000003" "g.89623405C>T" "42/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "42 heterozygous, no homozygous; {DB:CLININrs61747711}" "Germline" "" "rs61747711" "0" "" "" "g.89556997C>T" "" "benign" "" "0000669366" "3" "50" "16" "89623393" "89623393" "subst" "0.012485" "03575" "RPL13_000002" "g.89623393G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs11559075}" "Germline" "" "rs11559075" "0" "" "" "g.89556985G>A" "" "VUS" "" "0000680752" "0" "50" "16" "89619501" "89619501" "subst" "4.09578E-6" "01943" "SPG7_000063" "g.89619501G>A" "" "" "" "SPG7(NM_003119.3):c.1894G>A (p.G632R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692217" "0" "50" "16" "89611153" "89611153" "subst" "0" "01943" "RPL13_000021" "g.89611153C>A" "" "" "" "SPG7(NM_001363850.1):c.1422C>A (p.H474Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692218" "0" "90" "16" "89613070" "89613078" "del" "0" "01943" "SPG7_000002" "g.89613070_89613078del" "" "" "" "SPG7(NM_001363850.1):c.1450-1_1457delGGAGAGGCG, SPG7(NM_003119.4):c.1450-1_1457delGGAGAGGCG, SPG7(NM_003119.4):c.1454_1462del (p.(Arg485_Glu487del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726084" "0" "90" "16" "89613145" "89613145" "subst" "0.00287905" "02329" "SPG7_000003" "g.89613145C>T" "" "" "" "SPG7(NM_001363850.1):c.1529C>T (p.A510V), SPG7(NM_003119.2):c.1529C>T (p.(Ala510Val)), SPG7(NM_003119.4):c.1529C>T (p.A510V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726085" "0" "90" "16" "89620905" "89620921" "del" "0" "02329" "SPG7_000041" "g.89620905_89620921del" "" "" "" "SPG7(NM_003119.2):c.2115_2131del (p.(Leu706GlnfsTer30)), SPG7(NM_003119.3):c.2115_2131delGCTGGTGGCCAAGGCCT (p.L706Qfs*30), SPG7(NM_003119.4):c.2115..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726086" "0" "50" "16" "89623341" "89623341" "subst" "5.68597E-5" "02327" "RPL13_000022" "g.89623341T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807729" "0" "90" "16" "89614464" "89614464" "subst" "0" "02329" "RPL13_000023" "g.89614464G>T" "" "" "" "SPG7(NM_001363850.1):c.1606G>T (p.G536*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807730" "0" "50" "16" "89614503" "89614503" "subst" "2.49848E-5" "01943" "RPL13_000024" "g.89614503G>A" "" "" "" "SPG7(NM_001363850.1):c.1645G>A (p.V549M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807731" "0" "30" "16" "89619540" "89619540" "subst" "0.000798973" "01943" "RPL13_000010" "g.89619540T>A" "" "" "" "SPG7(NM_001363850.1):c.1933T>A (p.S645T), SPG7(NM_003119.4):c.1933T>A (p.S645T, p.(Ser645Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807732" "0" "30" "16" "89620316" "89620316" "subst" "8.15654E-6" "01943" "RPL13_000025" "g.89620316T>A" "" "" "" "SPG7(NM_003119.3):c.2051T>A (p.M684K), SPG7(NM_003119.4):c.2051T>A (p.(Met684Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854721" "0" "90" "16" "89616987" "89616987" "subst" "0" "02325" "SPG7_000062" "g.89616987G>C" "" "" "" "SPG7(NM_003119.4):c.1749G>C (p.W583C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865026" "0" "30" "16" "89617020" "89617020" "subst" "0" "01943" "RPL13_000026" "g.89617020G>T" "" "" "" "SPG7(NM_001363850.1):c.1779+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865027" "0" "30" "16" "89620317" "89620317" "subst" "8.15993E-6" "01943" "RPL13_000027" "g.89620317G>C" "" "" "" "SPG7(NM_003119.3):c.2052G>C (p.M684I), SPG7(NM_003119.4):c.2052G>C (p.(Met684Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865028" "0" "70" "16" "89620894" "89620894" "subst" "0" "01804" "RPL13_000028" "g.89620894G>A" "" "" "" "SPG7(NM_003119.2):c.2104G>A (p.(Glu702Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865029" "0" "90" "16" "89620905" "89620921" "del" "0" "01804" "SPG7_000041" "g.89620905_89620921del" "" "" "" "SPG7(NM_003119.2):c.2115_2131del (p.(Leu706GlnfsTer30)), SPG7(NM_003119.3):c.2115_2131delGCTGGTGGCCAAGGCCT (p.L706Qfs*30), SPG7(NM_003119.4):c.2115..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893268" "0" "10" "16" "89612265" "89612265" "dup" "0" "02326" "RPL13_000029" "g.89612265dup" "" "" "" "SPG7(NM_003119.4):c.1450-801dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893269" "0" "10" "16" "89612991" "89612991" "del" "0" "02326" "RPL13_000030" "g.89612991del" "" "" "" "SPG7(NM_003119.4):c.1450-75delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893270" "0" "10" "16" "89613037" "89613037" "subst" "0.19318" "02326" "RPL13_000031" "g.89613037G>A" "" "" "" "SPG7(NM_003119.4):c.1450-29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893271" "0" "90" "16" "89613070" "89613078" "del" "0" "02329" "SPG7_000002" "g.89613070_89613078del" "" "" "" "SPG7(NM_001363850.1):c.1450-1_1457delGGAGAGGCG, SPG7(NM_003119.4):c.1450-1_1457delGGAGAGGCG, SPG7(NM_003119.4):c.1454_1462del (p.(Arg485_Glu487del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893272" "0" "10" "16" "89613123" "89613123" "subst" "0.148174" "02326" "SPG7_000056" "g.89613123A>G" "" "" "" "SPG7(NM_003119.4):c.1507A>G (p.T503A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893273" "0" "10" "16" "89613233" "89613233" "subst" "0" "02326" "RPL13_000032" "g.89613233A>C" "" "" "" "SPG7(NM_003119.4):c.1552+65A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893274" "0" "50" "16" "89614435" "89614435" "subst" "0" "02325" "RPL13_000033" "g.89614435A>G" "" "" "" "SPG7(NM_003119.4):c.1577A>G (p.N526S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893275" "0" "10" "16" "89615453" "89615453" "subst" "0.160195" "02326" "RPL13_000034" "g.89615453A>C" "" "" "" "SPG7(NM_003119.4):c.1663+932A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893276" "0" "10" "16" "89615765" "89615765" "subst" "0.13776" "02326" "RPL13_000035" "g.89615765T>G" "" "" "" "SPG7(NM_003119.4):c.1664-1137T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893277" "0" "10" "16" "89616790" "89616790" "subst" "0" "02326" "RPL13_000036" "g.89616790G>A" "" "" "" "SPG7(NM_003119.4):c.1664-112G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893278" "0" "10" "16" "89616887" "89616887" "subst" "0.00436751" "02327" "RPL13_000037" "g.89616887C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893279" "0" "90" "16" "89616910" "89616910" "subst" "0.000142407" "02327" "RPL13_000038" "g.89616910A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893280" "0" "10" "16" "89617008" "89617008" "subst" "0.00383306" "02327" "RPL13_000039" "g.89617008C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893281" "0" "10" "16" "89617064" "89617064" "subst" "0.154557" "02326" "RPL13_000040" "g.89617064G>C" "" "" "" "SPG7(NM_003119.4):c.1779+47G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893282" "0" "30" "16" "89619540" "89619540" "subst" "0.000798973" "02327" "RPL13_000010" "g.89619540T>A" "" "" "" "SPG7(NM_001363850.1):c.1933T>A (p.S645T), SPG7(NM_003119.4):c.1933T>A (p.S645T, p.(Ser645Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893283" "0" "30" "16" "89619540" "89619540" "subst" "0.000798973" "02326" "RPL13_000010" "g.89619540T>A" "" "" "" "SPG7(NM_001363850.1):c.1933T>A (p.S645T), SPG7(NM_003119.4):c.1933T>A (p.S645T, p.(Ser645Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893284" "0" "10" "16" "89620148" "89620148" "subst" "0.168249" "02326" "RPL13_000041" "g.89620148A>G" "" "" "" "SPG7(NM_003119.4):c.1937-54A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893285" "0" "50" "16" "89620204" "89620204" "subst" "7.33221E-5" "02327" "RPL13_000013" "g.89620204G>T" "" "" "" "SPG7(NM_003119.4):c.1939G>T (p.(Ala647Ser), p.A647S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893286" "0" "70" "16" "89620238" "89620238" "subst" "0" "02329" "RPL13_000042" "g.89620238C>T" "" "" "" "SPG7(NM_001363850.1):c.1973C>T (p.A658V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000893287" "0" "30" "16" "89620301" "89620301" "subst" "4.07425E-6" "02326" "RPL13_000043" "g.89620301C>T" "" "" "" "SPG7(NM_003119.2):c.2036C>T (p.(Ala679Val)), SPG7(NM_003119.4):c.2036C>T (p.A679V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893288" "0" "10" "16" "89620328" "89620328" "subst" "0.147144" "02326" "SPG7_000066" "g.89620328G>A" "" "" "" "SPG7(NM_003119.4):c.2063G>A (p.R688Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893289" "0" "50" "16" "89623353" "89623353" "subst" "0" "02327" "RPL13_000044" "g.89623353T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893290" "0" "10" "16" "89623992" "89623993" "ins" "0" "02326" "RPL13_000045" "g.89623992_89623993insCACA" "" "" "" "SPG7(NM_003119.4):c.*490_*491insACAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914722" "0" "50" "16" "89611153" "89611153" "subst" "0" "02327" "RPL13_000021" "g.89611153C>A" "" "" "" "SPG7(NM_001363850.1):c.1422C>A (p.H474Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926380" "0" "50" "16" "89619511" "89619511" "subst" "0" "02327" "RPL13_000046" "g.89619511C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926381" "0" "10" "16" "89623393" "89623393" "subst" "0.012485" "02326" "RPL13_000002" "g.89623393G>A" "" "" "" "SPG7(NM_003119.4):c.2280G>A (p.P760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930681" "0" "50" "16" "89613159" "89613159" "subst" "0" "02325" "RPL13_000047" "g.89613159G>C" "" "" "" "SPG7(NM_003119.4):c.1543G>C (p.G515R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950777" "0" "70" "16" "89611140" "89611140" "subst" "8.12414E-6" "02325" "RPL13_000048" "g.89611140G>A" "" "" "" "SPG7(NM_003119.4):c.1409G>A (p.R470Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950778" "0" "90" "16" "89613145" "89613145" "subst" "0.00287905" "01804" "SPG7_000003" "g.89613145C>T" "" "" "" "SPG7(NM_001363850.1):c.1529C>T (p.A510V), SPG7(NM_003119.2):c.1529C>T (p.(Ala510Val)), SPG7(NM_003119.4):c.1529C>T (p.A510V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982222" "0" "90" "16" "89616953" "89616953" "subst" "3.65705E-5" "01804" "RPL13_000049" "g.89616953C>T" "" "" "" "SPG7(NM_003119.4):c.1715C>T (p.(Ala572Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982223" "0" "50" "16" "89619414" "89619414" "subst" "3.25203E-5" "02325" "RPL13_000050" "g.89619414G>A" "" "" "" "SPG7(NM_003119.4):c.1807G>A (p.A603T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982224" "0" "50" "16" "89620938" "89620938" "subst" "1.24151E-5" "01804" "RPL13_000051" "g.89620938G>C" "" "" "" "SPG7(NM_003119.4):c.2148G>C (p.(Lys716Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982225" "0" "50" "16" "89623338" "89623338" "subst" "5.27987E-5" "01804" "RPL13_000052" "g.89623338A>G" "" "" "" "SPG7(NM_003119.4):c.2225A>G (p.(Asp742Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982226" "0" "50" "16" "89623374" "89623374" "subst" "5.68551E-5" "01804" "RPL13_000053" "g.89623374C>T" "" "" "" "SPG7(NM_003119.4):c.2261C>T (p.(Pro754Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982227" "0" "50" "16" "89623388" "89623388" "subst" "0.000552338" "01804" "RPL13_000001" "g.89623388G>A" "" "" "" "SPG7(NM_003119.2):c.2275G>A (p.(Ala759Thr)), SPG7(NM_003119.3):c.2275G>A (p.A759T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989354" "0" "90" "16" "89629362" "89629362" "subst" "0" "03779" "RPL13_000019" "g.89629362G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1597676540" "0" "" "" "" "" "pathogenic" "" "0001002809" "0" "50" "16" "89620301" "89620301" "subst" "4.07425E-6" "01804" "RPL13_000043" "g.89620301C>T" "" "" "" "SPG7(NM_003119.2):c.2036C>T (p.(Ala679Val)), SPG7(NM_003119.4):c.2036C>T (p.A679V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002810" "0" "70" "16" "89620361" "89620361" "dup" "0" "01804" "SPG7_000067" "g.89620361dup" "" "" "" "SPG7(NM_003119.2):c.2096dup, SPG7(NM_003119.2):c.2096dupT (p.(Met699fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002811" "0" "50" "16" "89620971" "89620971" "subst" "1.25372E-5" "01804" "SPG7_000042" "g.89620971G>A" "" "" "" "SPG7(NM_003119.2):c.2181G>A (p.(Ala727=)), SPG7(NM_003119.4):c.2181G>A (p.A727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002812" "0" "50" "16" "89627709" "89627709" "subst" "0" "01804" "RPL13_000054" "g.89627709G>T" "" "" "" "RPL13(NM_000977.3):c.179G>T (p.(Arg60Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002813" "0" "50" "16" "89628158" "89628158" "subst" "8.15215E-6" "01804" "RPL13_000055" "g.89628158C>T" "" "" "" "RPL13(NM_000977.3):c.419C>T (p.(Ser140Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015452" "0" "50" "16" "89611148" "89611148" "subst" "1.62484E-5" "02327" "RPL13_000056" "g.89611148C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015453" "0" "50" "16" "89623304" "89623304" "subst" "3.65863E-5" "02327" "RPL13_000057" "g.89623304G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015454" "0" "50" "16" "89623395" "89623395" "subst" "0" "02325" "RPL13_000058" "g.89623395A>C" "" "" "" "SPG7(NM_003119.4):c.2282A>C (p.Q761P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029394" "0" "70" "16" "89628801" "89628801" "subst" "0" "01164" "RPL13_000059" "g.89628801T>G" "" "" "" "" "ACMG: PVS1_STR, PS1, PM2_SUP" "Germline" "?" "" "" "" "" "g.89562393T>G" "" "likely pathogenic (dominant)" "ACMG" "0001041510" "0" "50" "16" "89611154" "89611154" "subst" "1.21872E-5" "01804" "RPL13_000060" "g.89611154G>A" "" "" "" "SPG7(NM_003119.4):c.1423G>A (p.(Val475Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041511" "0" "30" "16" "89612990" "89612991" "del" "0" "02326" "RPL13_000061" "g.89612990_89612991del" "" "" "" "SPG7(NM_003119.4):c.1450-76_1450-75delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041512" "0" "50" "16" "89616943" "89616943" "subst" "1.62514E-5" "01804" "RPL13_000062" "g.89616943A>C" "" "" "" "SPG7(NM_003119.4):c.1705A>C (p.(Lys569Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041513" "0" "50" "16" "89619540" "89619540" "subst" "0.000798973" "01804" "RPL13_000010" "g.89619540T>A" "" "" "" "SPG7(NM_001363850.1):c.1933T>A (p.S645T), SPG7(NM_003119.4):c.1933T>A (p.S645T, p.(Ser645Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041514" "0" "50" "16" "89620316" "89620316" "subst" "8.15654E-6" "01804" "RPL13_000025" "g.89620316T>A" "" "" "" "SPG7(NM_003119.3):c.2051T>A (p.M684K), SPG7(NM_003119.4):c.2051T>A (p.(Met684Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041515" "0" "50" "16" "89620317" "89620317" "subst" "8.15993E-6" "01804" "RPL13_000027" "g.89620317G>C" "" "" "" "SPG7(NM_003119.3):c.2052G>C (p.M684I), SPG7(NM_003119.4):c.2052G>C (p.(Met684Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041516" "0" "10" "16" "89622524" "89622524" "subst" "0" "02326" "RPL13_000063" "g.89622524T>G" "" "" "" "SPG7(NM_003119.4):c.2182-771T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001041517" "0" "10" "16" "89623405" "89623405" "subst" "0.0286391" "02326" "RPL13_000003" "g.89623405C>T" "" "" "" "SPG7(NM_003119.4):c.2292C>T (p.I764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001041518" "0" "50" "16" "89629311" "89629311" "subst" "0.000350019" "01804" "RPL13_000015" "g.89629311C>T" "" "" "" "RPL13(NM_000977.4):c.497C>T (p.(Ala166Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055740" "0" "90" "16" "89613070" "89613078" "del" "0" "01804" "SPG7_000002" "g.89613070_89613078del" "" "" "" "SPG7(NM_001363850.1):c.1450-1_1457delGGAGAGGCG, SPG7(NM_003119.4):c.1450-1_1457delGGAGAGGCG, SPG7(NM_003119.4):c.1454_1462del (p.(Arg485_Glu487del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055741" "0" "90" "16" "89619468" "89619468" "subst" "0" "01804" "RPL13_000064" "g.89619468C>T" "" "" "" "SPG7(NM_003119.4):c.1861C>T (p.(Gln621*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055742" "0" "50" "16" "89620204" "89620204" "subst" "7.33221E-5" "01804" "RPL13_000013" "g.89620204G>T" "" "" "" "SPG7(NM_003119.4):c.1939G>T (p.(Ala647Ser), p.A647S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055743" "0" "30" "16" "89627345" "89627345" "subst" "3.84819E-5" "01804" "RPL13_000065" "g.89627345C>T" "" "" "" "RPL13(NM_000977.4):c.-20-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055744" "0" "50" "16" "89628077" "89628077" "subst" "4.06415E-6" "01804" "RPL13_000066" "g.89628077A>G" "" "" "" "RPL13(NM_000977.4):c.338A>G (p.(Asn113Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055745" "0" "30" "16" "89628169" "89628169" "subst" "4.09108E-6" "01804" "RPL13_000067" "g.89628169C>T" "" "" "" "RPL13(NM_000977.4):c.420+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055746" "0" "50" "16" "89629344" "89629344" "subst" "0" "01804" "RPL13_000068" "g.89629344A>G" "" "" "" "RPL13(NM_000977.4):c.530A>G (p.(Lys177Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059635" "21" "70" "16" "89629362" "89629362" "subst" "0" "00006" "RPL13_000069" "g.89629362G>A" "" "{PMID:Jacob 2023:37993442}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "yes" "" "0" "" "" "g.89562954G>A" "SCV001984874.1" "likely pathogenic (dominant)" "" "0001059636" "0" "70" "16" "89629362" "89629362" "subst" "0" "00006" "RPL13_000069" "g.89629362G>A" "" "{PMID:Jacob 2023:37993442}, {PMID:Jacob 2025:39706863}" "" "" "" "De novo" "" "" "0" "" "" "g.89562954G>A" "SCV001984874.1" "likely pathogenic (dominant)" "" "0001059798" "21" "70" "16" "89629362" "89629362" "subst" "0" "00006" "RPL13_000069" "g.89629362G>A" "" "{PMID:Jacob 2023:37993442}" "" "" "" "Germline" "" "" "0" "" "" "g.89562954G>A" "" "likely pathogenic (dominant)" "" "0001059799" "11" "70" "16" "89629362" "89629362" "subst" "0" "00006" "RPL13_000069" "g.89629362G>A" "" "{PMID:Jacob 2023:37993442}" "" "" "" "Germline" "" "" "0" "" "" "g.89562954G>A" "" "likely pathogenic (dominant)" "" "0001059800" "0" "70" "16" "89629383" "89629383" "subst" "0" "00006" "chr16_007664" "g.89629383G>T" "" "{PMID:Jacob 2023:37993442}" "" "" "" "De novo" "" "" "0" "" "" "g.89562975G>T" "" "likely pathogenic (dominant)" "" "0001059801" "0" "70" "16" "89629383" "89629383" "subst" "0" "00006" "chr16_007664" "g.89629383G>T" "" "{PMID:Jacob 2023:37993442}" "" "" "" "De novo" "" "" "0" "" "" "g.89562975G>T" "" "likely pathogenic (dominant)" "" "0001059802" "0" "70" "16" "89629383" "89629383" "subst" "0" "00006" "chr16_007664" "g.89629383G>T" "" "{PMID:Jacob 2023:37993442}" "" "" "" "De novo" "" "" "0" "" "" "g.89562975G>T" "" "likely pathogenic (dominant)" "" "0001059803" "0" "70" "16" "89629362" "89629362" "subst" "0" "00006" "RPL13_000069" "g.89629362G>A" "" "{PMID:Jacob 2023:37993442}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.89562954G>A" "" "likely pathogenic (dominant)" "" "0001059804" "21" "70" "16" "89629362" "89629362" "subst" "0" "00006" "RPL13_000069" "g.89629362G>A" "" "{PMID:Jacob 2023:37993442}" "" "" "" "Germline" "" "" "0" "" "" "g.89562954G>A" "" "likely pathogenic (dominant)" "" "0001059805" "11" "70" "16" "89628800" "89628800" "subst" "0" "00006" "RPL13_000017" "g.89628800G>A" "" "{PMID:Jacob 2023:37993442}" "" "" "father 0.30 mosaic in blood" "De novo" "" "" "0" "" "" "g.89562392G>A" "" "likely pathogenic (dominant)" "" "0001059806" "21" "70" "16" "89628800" "89628800" "subst" "0" "00006" "RPL13_000017" "g.89628800G>A" "" "{PMID:Jacob 2023:37993442}" "" "" "" "Germline" "" "" "0" "" "" "g.89562392G>A" "" "likely pathogenic (dominant)" "" "0001059807" "21" "70" "16" "89628800" "89628800" "subst" "0" "00006" "RPL13_000017" "g.89628800G>A" "" "{PMID:Jacob 2023:37993442}" "" "" "" "Germline" "" "" "0" "" "" "g.89562392G>A" "" "likely pathogenic (dominant)" "" ## 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 RPL13 ## Count = 140 "{{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}}" "0000311488" "00018090" "50" "-16040" "0" "-16040" "0" "c.-16040G>A" "r.(?)" "p.(=)" "" "0000311489" "00018090" "30" "-15988" "0" "-15988" "0" "c.-15988C>T" "r.(?)" "p.(=)" "" "0000311490" "00018090" "30" "-14068" "0" "-14068" "0" "c.-14068G>A" "r.(?)" "p.(=)" "" "0000311491" "00018090" "90" "-13996" "0" "-13996" "0" "c.-13996C>T" "r.(?)" "p.(=)" "" "0000311492" "00018090" "30" "-12690" "0" "-12690" "0" "c.-12690C>T" "r.(?)" "p.(=)" "" "0000311493" "00018090" "10" "-12630" "0" "-12630" "0" "c.-12630C>T" "r.(?)" "p.(=)" "" "0000311499" "00018090" "50" "-6170" "0" "-6170" "0" "c.-6170G>A" "r.(?)" "p.(=)" "" "0000315586" "00018090" "50" "-16001" "0" "-16001" "0" "c.-16001G>T" "r.(?)" "p.(=)" "" "0000315587" "00018090" "90" "-13996" "0" "-13996" "0" "c.-13996C>T" "r.(?)" "p.(=)" "" "0000315588" "00018090" "10" "-12607" "0" "-12607" "0" "c.-12607C>T" "r.(?)" "p.(=)" "" "0000315592" "00018090" "90" "-6236" "0" "-6220" "0" "c.-6236_-6220del" "r.(?)" "p.(=)" "" "0000315593" "00018090" "30" "-3753" "0" "-3753" "0" "c.-3753G>A" "r.(?)" "p.(=)" "" "0000338861" "00018090" "10" "-15942" "0" "-15942" "0" "c.-15942G>A" "r.(?)" "p.(=)" "" "0000338862" "00018090" "10" "-13960" "0" "-13960" "0" "c.-13960C>T" "r.(?)" "p.(=)" "" "0000338864" "00018090" "10" "-12607" "0" "-12607" "0" "c.-12607C>T" "r.(?)" "p.(=)" "" "0000340540" "00018090" "10" "-15988" "0" "-15988" "0" "c.-15988C>T" "r.(?)" "p.(=)" "" "0000340541" "00018090" "10" "-12630" "0" "-12630" "0" "c.-12630C>T" "r.(?)" "p.(=)" "" "0000340542" "00018090" "10" "-3748" "0" "-3748" "0" "c.-3748G>A" "r.(?)" "p.(=)" "" "0000340543" "00018090" "10" "-3736" "0" "-3736" "0" "c.-3736C>T" "r.(?)" "p.(=)" "" "0000340544" "00018090" "10" "-3733" "0" "-3733" "0" "c.-3733C>T" "r.(?)" "p.(=)" "" "0000341546" "00018090" "10" "-6839" "0" "-6839" "0" "c.-6839G>A" "r.(?)" "p.(=)" "" "0000341583" "00018090" "30" "-3753" "0" "-3753" "0" "c.-3753G>A" "r.(?)" "p.(=)" "" "0000342984" "00018090" "50" "-14072" "0" "-14072" "0" "c.-14072A>G" "r.(?)" "p.(=)" "" "0000343267" "00018090" "10" "-6813" "0" "-6813" "0" "c.-6813G>A" "r.(?)" "p.(=)" "" "0000344165" "00018090" "50" "-6928" "0" "-6928" "0" "c.-6928G>T" "r.(?)" "p.(=)" "" "0000344902" "00018090" "90" "-10201" "0" "-10201" "0" "c.-10201C>T" "r.(?)" "p.(=)" "" "0000345489" "00018090" "90" "-10147" "0" "-10147" "0" "c.-10147G>T" "r.(?)" "p.(=)" "" "0000346199" "00018090" "50" "-7640" "0" "-7640" "0" "c.-7640G>A" "r.(?)" "p.(=)" "" "0000346513" "00018090" "70" "-6774" "0" "-6774" "0" "c.-6774A>C" "r.(?)" "p.(=)" "" "0000347886" "00018090" "90" "-6780" "0" "-6780" "0" "c.-6780dup" "r.(?)" "p.(=)" "" "0000349541" "00018090" "10" "-14018" "0" "-14018" "0" "c.-14018A>G" "r.(?)" "p.(=)" "" "0000349831" "00018090" "70" "-10154" "0" "-10154" "0" "c.-10154G>C" "r.(?)" "p.(=)" "" "0000559937" "00018090" "30" "-16060" "0" "-16060" "0" "c.-16060C>A" "r.(?)" "p.(=)" "" "0000559938" "00018090" "30" "-16023" "0" "-16023" "0" "c.-16023G>C" "r.(?)" "p.(=)" "" "0000559939" "00018090" "90" "-14071" "0" "-14063" "0" "c.-14071_-14063del" "r.(?)" "p.(=)" "" "0000559940" "00018090" "30" "-14058" "0" "-14058" "0" "c.-14058T>C" "r.(?)" "p.(=)" "" "0000559941" "00018090" "10" "-10104" "0" "-10104" "0" "c.-10104G>A" "r.(?)" "p.(=)" "" "0000559942" "00018090" "30" "-7648" "0" "-7648" "0" "c.-7648C>G" "r.(?)" "p.(=)" "" "0000559943" "00018090" "50" "-7601" "0" "-7601" "0" "c.-7601T>A" "r.(?)" "p.(=)" "" "0000559944" "00018090" "10" "-6955" "0" "-6955" "0" "c.-6955C>G" "r.(?)" "p.(=)" "" "0000559945" "00018090" "10" "-6954" "0" "-6954" "0" "c.-6954G>A" "r.(?)" "p.(=)" "" "0000559946" "00018090" "50" "-6937" "0" "-6937" "0" "c.-6937G>T" "r.(?)" "p.(=)" "" "0000559947" "00018090" "50" "-6910" "0" "-6910" "0" "c.-6910C>T" "r.(?)" "p.(=)" "" "0000559948" "00018090" "30" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ala166Val)" "" "0000598580" "00018090" "90" "477" "1" "477" "1" "c.477+1G>T" "r.477_478ins[u;477+2_477+54]" "p.Asn159_Val160insLSEHLLKSRLQTRSVGEH" "" "0000598581" "00018090" "90" "477" "2" "477" "2" "c.477+2T>C" "r.477_478ins[gc;477+3_477+54]" "p.Asn159_Val160insASEHLLKSRLQTRSVGEH" "" "0000598582" "00018090" "90" "477" "1" "477" "1" "c.477+1G>A" "r.spl" "p.(Asn159_Val160insISEHLLKSRLQTRSVGEH)" "" "0000598583" "00018090" "90" "548" "0" "548" "0" "c.548G>C" "r.(?)" "p.(Arg183Pro)" "" "0000623584" "00018090" "50" "-14068" "0" "-14068" "0" "c.-14068G>T" "r.(?)" "p.(=)" "" "0000649457" "00018090" "50" "-3748" "0" "-3748" "0" "c.-3748G>A" "" "p.(=)" "" "0000649458" "00018090" "10" "-3736" "0" "-3736" "0" "c.-3736C>T" "r.(=)" "p.(=)" "" "0000669366" "00018090" "50" "-3748" "0" "-3748" "0" "c.-3748G>A" "r.(=)" "p.(=)" "" "0000680752" "00018090" "50" "-7640" "0" "-7640" "0" "c.-7640G>A" "r.(?)" "p.(=)" "" "0000692217" "00018090" "50" "-15988" "0" "-15988" "0" "c.-15988C>A" "r.(?)" "p.(=)" "" "0000692218" "00018090" "90" "-14071" "0" "-14063" "0" "c.-14071_-14063del" "r.(?)" "p.(=)" "" "0000726084" "00018090" "90" "-13996" "0" "-13996" "0" "c.-13996C>T" "r.(?)" "p.(=)" "" "0000726085" "00018090" "90" "-6236" "0" "-6220" "0" "c.-6236_-6220del" "r.(?)" "p.(=)" "" "0000726086" "00018090" "50" "-3800" "0" "-3800" "0" "c.-3800T>C" "r.(?)" "p.(=)" "" "0000807729" "00018090" "90" "-12677" "0" "-12677" "0" "c.-12677G>T" "r.(?)" "p.(=)" "" "0000807730" "00018090" "50" "-12638" "0" "-12638" "0" "c.-12638G>A" "r.(?)" "p.(=)" "" "0000807731" "00018090" "30" "-7601" "0" "-7601" "0" "c.-7601T>A" "r.(?)" "p.(=)" "" "0000807732" "00018090" "30" "-6825" "0" "-6825" "0" "c.-6825T>A" "r.(?)" "p.(=)" "" "0000854721" "00018090" "90" "-10154" "0" "-10154" "0" "c.-10154G>C" "r.(?)" "p.(=)" "" "0000865026" "00018090" "30" "-10121" "0" "-10121" "0" "c.-10121G>T" "r.(?)" "p.(=)" "" "0000865027" "00018090" "30" "-6824" "0" "-6824" "0" "c.-6824G>C" "r.(?)" "p.(=)" "" "0000865028" "00018090" "70" "-6247" "0" "-6247" "0" "c.-6247G>A" "r.(?)" "p.(=)" "" "0000865029" "00018090" "90" "-6236" "0" "-6220" "0" "c.-6236_-6220del" "r.(?)" "p.(=)" "" "0000893268" "00018090" "10" "-14876" "0" "-14876" "0" "c.-14876dup" "r.(?)" "p.(=)" "" "0000893269" "00018090" "10" "-14150" "0" "-14150" "0" "c.-14150del" "r.(?)" "p.(=)" "" "0000893270" "00018090" "10" "-14104" "0" "-14104" "0" "c.-14104G>A" "r.(?)" "p.(=)" "" "0000893271" "00018090" "90" "-14071" "0" "-14063" "0" "c.-14071_-14063del" "r.(?)" "p.(=)" "" "0000893272" "00018090" "10" "-14018" "0" "-14018" "0" "c.-14018A>G" "r.(?)" "p.(=)" "" "0000893273" "00018090" "10" "-13908" "0" "-13908" "0" "c.-13908A>C" "r.(?)" "p.(=)" "" "0000893274" "00018090" "50" "-12706" "0" "-12706" "0" "c.-12706A>G" "r.(?)" "p.(=)" "" "0000893275" "00018090" "10" "-11688" "0" "-11688" "0" "c.-11688A>C" "r.(?)" "p.(=)" "" "0000893276" "00018090" "10" "-11376" "0" "-11376" "0" "c.-11376T>G" "r.(?)" "p.(=)" "" "0000893277" "00018090" "10" "-10351" "0" "-10351" "0" "c.-10351G>A" "r.(?)" "p.(=)" "" "0000893278" "00018090" "10" "-10254" "0" "-10254" "0" "c.-10254C>A" "r.(?)" "p.(=)" "" "0000893279" "00018090" "90" "-10231" "0" "-10231" "0" "c.-10231A>T" "r.(?)" "p.(=)" "" "0000893280" "00018090" "10" "-10133" "0" "-10133" "0" "c.-10133C>T" "r.(?)" "p.(=)" "" "0000893281" "00018090" "10" "-10077" "0" "-10077" "0" "c.-10077G>C" "r.(?)" "p.(=)" "" "0000893282" "00018090" "30" "-7601" "0" "-7601" "0" "c.-7601T>A" "r.(?)" "p.(=)" "" "0000893283" "00018090" "30" "-7601" "0" "-7601" "0" "c.-7601T>A" "r.(?)" "p.(=)" "" "0000893284" "00018090" "10" "-6993" "0" "-6993" "0" "c.-6993A>G" "r.(?)" "p.(=)" "" "0000893285" "00018090" "50" "-6937" "0" "-6937" "0" "c.-6937G>T" "r.(?)" "p.(=)" "" "0000893286" "00018090" "70" "-6903" "0" "-6903" "0" "c.-6903C>T" "r.(?)" "p.(=)" "" "0000893287" "00018090" "30" "-6840" "0" "-6840" "0" "c.-6840C>T" "r.(?)" "p.(=)" "" "0000893288" "00018090" "10" "-6813" "0" "-6813" "0" "c.-6813G>A" "r.(?)" "p.(=)" "" "0000893289" "00018090" "50" "-3788" "0" "-3788" "0" "c.-3788T>C" "r.(?)" "p.(=)" "" "0000893290" "00018090" "10" "-3149" "0" "-3148" "0" "c.-3149_-3148insCACA" "r.(?)" "p.(=)" "" "0000914722" "00018090" "50" "-15988" "0" "-15988" "0" "c.-15988C>A" "r.(?)" "p.(=)" "" "0000926380" "00018090" "50" "-7630" "0" "-7630" "0" "c.-7630C>T" "r.(?)" "p.(=)" "" "0000926381" "00018090" "10" "-3748" "0" "-3748" "0" "c.-3748G>A" "r.(?)" "p.(=)" "" "0000930681" "00018090" "50" "-13982" "0" "-13982" "0" "c.-13982G>C" "r.(?)" "p.(=)" "" "0000950777" "00018090" "70" "-16001" "0" "-16001" "0" "c.-16001G>A" "r.(?)" "p.(=)" "" "0000950778" "00018090" "90" "-13996" "0" "-13996" "0" "c.-13996C>T" "r.(?)" "p.(=)" "" "0000982222" "00018090" "90" "-10188" "0" "-10188" "0" "c.-10188C>T" "r.(?)" "p.(=)" "" "0000982223" "00018090" "50" "-7727" "0" "-7727" "0" "c.-7727G>A" "r.(?)" "p.(=)" "" "0000982224" "00018090" "50" "-6203" "0" "-6203" "0" "c.-6203G>C" "r.(?)" "p.(=)" "" "0000982225" "00018090" "50" "-3803" "0" "-3803" "0" "c.-3803A>G" "r.(?)" "p.(=)" "" "0000982226" "00018090" "50" "-3767" "0" "-3767" "0" "c.-3767C>T" "r.(?)" "p.(=)" "" "0000982227" "00018090" "50" "-3753" "0" "-3753" "0" "c.-3753G>A" "r.(?)" "p.(=)" "" "0000989354" "00018090" "90" "548" "0" "548" "0" "c.548G>C" "r.(?)" "p.(Arg183Pro)" "" "0001002809" "00018090" "50" "-6840" "0" "-6840" "0" "c.-6840C>T" "r.(?)" "p.(=)" "" "0001002810" "00018090" "70" "-6780" "0" "-6780" "0" "c.-6780dup" "r.(?)" "p.(=)" "" "0001002811" "00018090" "50" "-6170" "0" "-6170" "0" "c.-6170G>A" "r.(?)" "p.(=)" "" "0001002812" "00018090" "50" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Arg60Leu)" "" "0001002813" "00018090" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "0001015452" "00018090" "50" "-15993" "0" "-15993" "0" "c.-15993C>T" "r.(?)" "p.(=)" "" "0001015453" "00018090" "50" "-3837" "0" "-3837" "0" "c.-3837G>A" "r.(?)" "p.(=)" "" "0001015454" "00018090" "50" "-3746" "0" "-3746" "0" "c.-3746A>C" "r.(?)" "p.(=)" "" "0001029394" "00018090" "70" "477" "2" "477" "2" "c.477+2T>G" "r.spl?" "p.?" "5i" "0001041510" "00018090" "50" "-15987" "0" "-15987" "0" "c.-15987G>A" "r.(?)" "p.(=)" "" "0001041511" "00018090" "30" "-14151" "0" "-14150" "0" "c.-14151_-14150del" "r.(?)" "p.(=)" "" "0001041512" "00018090" "50" "-10198" "0" "-10198" "0" "c.-10198A>C" "r.(?)" "p.(=)" "" "0001041513" "00018090" "50" "-7601" "0" "-7601" "0" "c.-7601T>A" "r.(?)" "p.(=)" "" "0001041514" "00018090" "50" "-6825" "0" "-6825" "0" "c.-6825T>A" "r.(?)" "p.(=)" "" "0001041515" "00018090" "50" "-6824" "0" "-6824" "0" "c.-6824G>C" "r.(?)" "p.(=)" "" "0001041516" "00018090" "10" "-4617" "0" "-4617" "0" "c.-4617T>G" "r.(?)" "p.(=)" "" "0001041517" "00018090" "10" "-3736" "0" "-3736" "0" "c.-3736C>T" "r.(?)" "p.(=)" "" "0001041518" "00018090" "50" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ala166Val)" "" "0001055740" "00018090" "90" "-14071" "0" "-14063" "0" "c.-14071_-14063del" "r.(?)" "p.(=)" "" "0001055741" "00018090" "90" "-7673" "0" "-7673" "0" "c.-7673C>T" "r.(?)" "p.(=)" "" "0001055742" "00018090" "50" "-6937" "0" "-6937" "0" "c.-6937G>T" "r.(?)" "p.(=)" "" "0001055743" "00018090" "30" "-20" "-3" "-20" "-3" "c.-20-3C>T" "r.spl?" "p.?" "" "0001055744" "00018090" "50" "338" "0" "338" "0" "c.338A>G" "r.(?)" "p.(Asn113Ser)" "" "0001055745" "00018090" "30" "420" "10" "420" "10" "c.420+10C>T" "r.(=)" "p.(=)" "" "0001055746" "00018090" "50" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Lys177Arg)" "" "0001059635" "00018090" "70" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "" "0001059636" "00018090" "70" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "" "0001059798" "00018090" "70" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "6" "0001059799" "00018090" "70" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "6" "0001059800" "00018090" "70" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Arg190Leu)" "6" "0001059801" "00018090" "70" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Arg190Leu)" "6" "0001059802" "00018090" "70" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Arg190Leu)" "6" "0001059803" "00018090" "70" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "6" "0001059804" "00018090" "70" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "6" "0001059805" "00018090" "70" "477" "1" "477" "1" "c.477+1G>A" "r.(477_478ins[A;477+2_477+54])" "p.(Asn159Val160insX[18])" "5i" "0001059806" "00018090" "70" "477" "1" "477" "1" "c.477+1G>A" "r.(477_478ins[A;477+2_477+54])" "p.(Asn159Val160insX[18])" "5i" "0001059807" "00018090" "70" "477" "1" "477" "1" "c.477+1G>A" "r.(477_478ins[A;477+2_477+54])" "p.(Asn159Val160insX[18])" "5i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000267518" "0000598580" "0000267519" "0000598581" "0000267520" "0000598582" "0000267521" "0000598583" "0000292768" "0000649457" "0000292769" "0000649458" "0000305678" "0000669366" "0000465699" "0001029394" "0000471487" "0001059635" "0000471488" "0001059636" "0000471583" "0001059798" "0000471584" "0001059799" "0000471585" "0001059800" "0000471586" "0001059801" "0000471587" "0001059802" "0000471588" "0001059803" "0000471589" "0001059804" "0000471590" "0001059805" "0000471591" "0001059806" "0000471592" "0001059807"