### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPTBN5) # 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}}" "SPTBN5" "spectrin, beta, non-erythrocytic 5" "15" "q21" "unknown" "NC_000015.9" "UD_136018322203" "" "https://www.LOVD.nl/SPTBN5" "" "1" "15680" "51332" "605916" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SPTBN5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-05 17:51:36" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024236" "SPTBN5" "spectrin, beta, non-erythrocytic 5" "001" "NM_016642.3" "" "NP_057726.4" "" "" "" "-228" "11495" "11025" "42186275" "42140344" "00006" "2017-03-05 17:50:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00039399" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "F" "yes" "" "" "0" "" "" "" "" "00374138" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "" "France" "" "0" "" "" "" "" "00407355" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-93" "00407356" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-95" "00407357" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-645" "00438665" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0543" "00443879" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "FamEPatIII2" "00443880" "" "" "00443879" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "brother" "M" "yes" "Turkey" "9d" "0" "" "" "" "FamEPatIII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00039399" "00139" "00039399" "04282" "00374138" "00198" "00407355" "04214" "00407356" "04214" "00407357" "04214" "00438665" "06906" "00443879" "06906" "00443880" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04214, 04282, 06906 ## Count = 8 "{{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}}" "0000078835" "04282" "00039399" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000269349" "00198" "00374138" "00006" "Unknown" "<0d" "21w-fetus, ultrasound Multicystic kidney, oligohydramnios; autopsy Hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000299709" "04214" "00407355" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299710" "04214" "00407356" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299711" "04214" "00407357" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000328568" "06906" "00438665" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000333156" "06906" "00443879" "00006" "Familial, autosomal recessive" "16m" "see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus" "" "" "" "" "" "" "" "" "DEE89" "West syndrome" "" "0000333157" "06906" "00443880" "00006" "Familial, autosomal recessive" "9d" "see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage" "" "" "" "" "" "" "" "" "DEE89" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039640" "00039399" "1" "01158" "01158" "2015-06-15 14:32:40" "" "" "SEQ-NG" "DNA" "" "" "0000375331" "00374138" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000408603" "00407355" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000408604" "00407356" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000408605" "00407357" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000440147" "00438665" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000445376" "00443879" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445377" "00443880" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000375331" "SPTBN5" "0000408603" "NES" "0000408604" "SLC1A7" "0000408605" "SPTBN5" ## 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 = 90 "{{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}}" "0000067252" "3" "70" "15" "42147078" "42147078" "dup" "0" "01158" "SPTBN5_000001" "g.42147078dup" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "Germline" "" "" "0" "" "" "g.41854880dup" "" "likely pathogenic" "" "0000251145" "0" "10" "15" "42139875" "42139875" "subst" "0.00318181" "02326" "JMJD7-PLA2G4B_000016" "g.42139875A>G" "" "" "" "JMJD7-PLA2G4B(NM_001198588.1):c.2669A>G (p.Q890R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41847677A>G" "" "benign" "" "0000285418" "0" "10" "15" "42133718" "42133718" "subst" "5.74581E-5" "02326" "JMJD7-PLA2G4B_000005" "g.42133718C>T" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.1132C>T (p.R378W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41841520C>T" "" "benign" "" "0000285419" "0" "10" "15" "42134416" "42134416" "subst" "0.014179" "02326" "JMJD7-PLA2G4B_000006" "g.42134416C>T" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.1340C>T (p.A447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41842218C>T" "" "benign" "" "0000285420" "0" "10" "15" "42137201" "42137201" "subst" "0.00315873" "02326" "JMJD7-PLA2G4B_000008" "g.42137201G>A" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.1865G>A (p.R622H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41845003G>A" "" "benign" "" "0000285421" "0" "10" "15" "42137386" "42137386" "subst" "0.000139621" "02326" "JMJD7-PLA2G4B_000009" "g.42137386C>T" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.1933-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41845188C>T" "" "benign" "" "0000285422" "0" "10" "15" "42127106" "42127106" "subst" "8.22605E-6" "02326" "JMJD7_000002" "g.42127106G>C" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.218+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41834908G>C" "" "benign" "" "0000285423" "0" "10" "15" "42138130" "42138130" "subst" "0.00150772" "02326" "JMJD7-PLA2G4B_000010" "g.42138130C>T" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.2189-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41845932C>T" "" "benign" "" "0000285424" "0" "10" "15" "42138572" "42138572" "subst" "0.00315942" "02326" "JMJD7-PLA2G4B_000013" "g.42138572C>T" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.2465C>T (p.T822I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41846374C>T" "" "benign" "" "0000285425" "0" "10" "15" "42139863" "42139863" "subst" "0.00402434" "02326" "JMJD7-PLA2G4B_000015" "g.42139863C>T" "" "" "" "JMJD7-PLA2G4B(NM_001198588.1):c.2657C>T (p.P886L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41847665C>T" "" "benign" "" "0000285426" "0" "10" "15" "42127420" "42127420" "subst" "0.00101987" "02326" "JMJD7_000003" "g.42127420G>T" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.471G>T (p.L157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41835222G>T" "" "benign" "" "0000285427" "0" "10" "15" "42126939" "42126939" "subst" "0.000810313" "02326" "JMJD7_000001" "g.42126939G>T" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.66G>T (p.E22D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41834741G>T" "" "benign" "" "0000285428" "0" "10" "15" "42132441" "42132441" "subst" "0.00312588" "02326" "JMJD7-PLA2G4B_000001" "g.42132441C>T" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.775+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41840243C>T" "" "benign" "" "0000300937" "0" "30" "15" "42132725" "42132725" "subst" "0.00018599" "02326" "JMJD7-PLA2G4B_000002" "g.42132725C>T" "" "" "" "PLA2G4B(NM_001114633.1):c.86C>T (p.T29I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41840527C>T" "" "likely benign" "" "0000315700" "0" "30" "15" "42178167" "42178167" "subst" "0.000193857" "01943" "SPTBN5_000010" "g.42178167C>T" "" "" "" "SPTBN5(NM_016642.4):c.1286G>A (p.R429Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41885969C>T" "" "likely benign" "" "0000315701" "0" "30" "15" "42174548" "42174548" "subst" "0" "01943" "SPTBN5_000008" "g.42174548G>T" "" "" "" "SPTBN5(NM_016642.4):c.2166C>A (p.A722=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41882350G>T" "" "likely benign" "" "0000315702" "0" "30" "15" "42166512" "42166512" "subst" "0" "01943" "SPTBN5_000006" "g.42166512T>C" "" "" "" "SPTBN5(NM_016642.4):c.4667A>G (p.Q1556R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41874314T>C" "" "likely benign" "" "0000315703" "0" "30" "15" "42152855" "42152855" "subst" "0.000124752" "01943" "SPTBN5_000005" "g.42152855G>A" "" "" "" "SPTBN5(NM_016642.4):c.7917C>T (p.A2639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41860657G>A" "" "likely benign" "" "0000324003" "0" "50" "15" "42115695" "42115695" "subst" "0.000658494" "01804" "MAPKBP1_000001" "g.42115695C>T" "" "" "" "MAPKBP1(NM_001128608.1):c.3667C>T (p.(Arg1223Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41823497C>T" "" "VUS" "" "0000324004" "0" "50" "15" "42116754" "42116754" "subst" "0.000119804" "01804" "MAPKBP1_000002" "g.42116754G>A" "" "" "" "MAPKBP1(NM_001128608.1):c.4304G>A (p.(Arg1435Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41824556G>A" "" "VUS" "" "0000324006" "0" "50" "15" "42129307" "42129307" "subst" "0" "01804" "JMJD7_000005" "g.42129307T>C" "" "" "" "JMJD7(NM_001114632.1):c.904T>C (p.(Tyr302His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41837109T>C" "" "VUS" "" "0000324007" "0" "50" "15" "42132781" "42132781" "subst" "0" "01804" "JMJD7-PLA2G4B_000003" "g.42132781C>T" "" "" "" "JMJD7-PLA2G4B(NM_001198588.1):c.835C>T (p.(Gln279Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41840583C>T" "" "VUS" "" "0000324008" "0" "50" "15" "42132791" "42132791" "subst" "0.000558884" "01804" "JMJD7-PLA2G4B_000004" "g.42132791C>T" "" "" "" "JMJD7-PLA2G4B(NM_001198588.1):c.845C>T (p.(Thr282Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41840593C>T" "" "VUS" "" "0000324009" "0" "50" "15" "42137152" "42137152" "subst" "0.00019055" "01804" "JMJD7-PLA2G4B_000007" "g.42137152G>T" "" "" "" "JMJD7-PLA2G4B(NM_001198588.1):c.1816G>T (p.(Ala606Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41844954G>T" "" "VUS" "" "0000324010" "0" "50" "15" "42138410" "42138410" "subst" "1.64528E-5" "01804" "JMJD7-PLA2G4B_000011" "g.42138410A>G" "" "" "" "JMJD7-PLA2G4B(NM_001198588.1):c.2303A>G (p.(Gln768Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41846212A>G" "" "VUS" "" "0000324011" "0" "50" "15" "42138422" "42138422" "subst" "0.00103612" "01804" "JMJD7-PLA2G4B_000012" "g.42138422T>G" "" "" "" "JMJD7-PLA2G4B(NM_001198588.1):c.2315T>G (p.(Leu772Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41846224T>G" "" "VUS" "" "0000324014" "0" "50" "15" "42148796" "42148796" "subst" "0.00454536" "01804" "SPTBN5_000003" "g.42148796T>A" "" "" "" "SPTBN5(NM_016642.2):c.8704A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41856598T>A" "" "VUS" "" "0000324016" "0" "50" "15" "42169010" "42169032" "del" "0" "01804" "SPTBN5_000007" "g.42169010_42169032del" "" "" "" "SPTBN5(NM_016642.2):c.3723_3745del (p.(Gln1276HisfsTer21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41876812_41876834del" "" "VUS" "" "0000324018" "0" "50" "15" "42178123" "42178123" "subst" "0.000152428" "01804" "SPTBN5_000009" "g.42178123C>T" "" "" "" "SPTBN5(NM_016642.2):c.1225G>A (p.(Asp409Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41885925C>T" "" "VUS" "" "0000324019" "0" "50" "15" "42185258" "42185258" "subst" "8.71702E-5" "01804" "SPTBN5_000011" "g.42185258G>A" "" "" "" "SPTBN5(NM_016642.2):c.113C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41893060G>A" "" "VUS" "" "0000554215" "0" "10" "15" "42126956" "42126956" "subst" "0.00470579" "02326" "JMJD7_000007" "g.42126956C>G" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.83C>G (p.A28G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41834758C>G" "" "benign" "" "0000554217" "0" "10" "15" "42137216" "42137216" "subst" "0.000318257" "02326" "JMJD7_000009" "g.42137216G>C" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.1880G>C (p.S627T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41845018G>C" "" "benign" "" "0000554218" "0" "10" "15" "42138257" "42138257" "subst" "0.00180223" "02326" "JMJD7_000010" "g.42138257G>A" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.2293+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41846059G>A" "" "benign" "" "0000554219" "0" "30" "15" "42143098" "42143098" "subst" "0.000513261" "01943" "JMJD7_000011" "g.42143098G>A" "" "" "" "SPTBN5(NM_016642.4):c.10875C>T (p.S3625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41850900G>A" "" "likely benign" "" "0000554220" "0" "50" "15" "42143327" "42143327" "subst" "0.000359125" "01943" "JMJD7_000012" "g.42143327G>C" "" "" "" "SPTBN5(NM_016642.4):c.10765C>G (p.L3589V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41851129G>C" "" "VUS" "" "0000554221" "0" "50" "15" "42145083" "42145083" "subst" "0.000671365" "01943" "JMJD7_000013" "g.42145083A>G" "" "" "" "SPTBN5(NM_016642.4):c.10286T>C (p.L3429P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41852885A>G" "" "VUS" "" "0000554223" "0" "50" "15" "42155970" "42155970" "subst" "0.00021118" "01943" "JMJD7-PLA2G4B_000018" "g.42155970C>T" "" "" "" "SPTBN5(NM_016642.4):c.7081G>A (p.E2361K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41863772C>T" "" "VUS" "" "0000554224" "0" "30" "15" "42167783" "42167783" "subst" "3.97663E-5" "01943" "JMJD7-PLA2G4B_000019" "g.42167783T>C" "" "" "" "SPTBN5(NM_016642.4):c.4160A>G (p.Q1387R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41875585T>C" "" "likely benign" "" "0000554226" "0" "30" "15" "42178164" "42178164" "subst" "0.000169027" "01943" "JMJD7-PLA2G4B_000021" "g.42178164C>T" "" "" "" "SPTBN5(NM_016642.4):c.1289G>A (p.R430H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41885966C>T" "" "likely benign" "" "0000615276" "0" "30" "15" "42145106" "42145106" "subst" "0.000231903" "01943" "JMJD7_000014" "g.42145106G>A" "" "" "" "SPTBN5(NM_016642.4):c.10263C>T (p.G3421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41852908G>A" "" "likely benign" "" "0000680161" "0" "30" "15" "42154439" "42154439" "subst" "0" "01943" "JMJD7-PLA2G4B_000023" "g.42154439C>T" "" "" "" "SPTBN5(NM_016642.4):c.7437G>A (p.L2479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725069" "0" "30" "15" "42117627" "42117627" "subst" "0.000194995" "02326" "JMJD7_000015" "g.42117627A>G" "" "" "" "MAPKBP1(NM_001128608.2):c.4538A>G (p.K1513R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725070" "0" "30" "15" "42147098" "42147098" "subst" "8.23228E-6" "01943" "JMJD7-PLA2G4B_000024" "g.42147098T>C" "" "" "" "SPTBN5(NM_016642.4):c.9500A>G (p.K3167R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725071" "0" "30" "15" "42147490" "42147490" "subst" "3.70075E-5" "01943" "JMJD7-PLA2G4B_000025" "g.42147490C>T" "" "" "" "SPTBN5(NM_016642.4):c.9355G>A (p.A3119T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725072" "0" "30" "15" "42174844" "42174844" "subst" "4.30916E-6" "01943" "JMJD7-PLA2G4B_000026" "g.42174844A>G" "" "" "" "SPTBN5(NM_016642.4):c.1985T>C (p.V662A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786672" "1" "70" "15" "42147511" "42147511" "subst" "2.48176E-5" "00006" "SPTBN5_000012" "g.42147511G>A" "" "{PMID:Lefebvre 2021:32732226}" "" "" "genotype-phenotype correlation: two missense variants in an individual with moderate phenotype (Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors - ROHHADNET syndrome)" "Germline" "" "" "0" "" "" "g.41855313G>A" "" "likely pathogenic" "" "0000786684" "2" "70" "15" "42178309" "42178309" "subst" "0" "00006" "SPTBN5_000013" "g.42178309G>A" "" "{PMID:Lefebvre 2021:32732226}" "" "" "genotype-phenotype correlation: two missense variants in an individual with moderate phenotype (Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors - ROHHADNET syndrome)" "Germline" "" "" "0" "" "" "g.41886111G>A" "" "likely pathogenic" "" "0000806674" "0" "30" "15" "42147871" "42147871" "subst" "0.000117" "01943" "JMJD7-PLA2G4B_000027" "g.42147871C>T" "" "" "" "SPTBN5(NM_016642.4):c.9094G>A (p.E3032K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806675" "0" "30" "15" "42154805" "42154805" "subst" "0" "01943" "JMJD7-PLA2G4B_000028" "g.42154805G>A" "" "" "" "SPTBN5(NM_016642.4):c.7317C>T (p.H2439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806676" "0" "30" "15" "42156001" "42156001" "subst" "0.000105591" "01943" "JMJD7-PLA2G4B_000029" "g.42156001A>G" "" "" "" "SPTBN5(NM_016642.4):c.7050T>C (p.H2350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806677" "0" "30" "15" "42164527" "42164527" "subst" "0.0001024" "01943" "JMJD7-PLA2G4B_000030" "g.42164527C>T" "" "" "" "SPTBN5(NM_016642.4):c.5138G>A (p.R1713Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806678" "0" "30" "15" "42168418" "42168418" "subst" "7.11017E-5" "01943" "JMJD7-PLA2G4B_000031" "g.42168418T>A" "" "" "" "SPTBN5(NM_016642.3):c.4016A>T (p.(His1339Leu)), SPTBN5(NM_016642.4):c.4016A>T (p.H1339L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806679" "0" "50" "15" "42178254" "42178254" "subst" "4.73467E-6" "01943" "JMJD7-PLA2G4B_000032" "g.42178254C>G" "" "" "" "SPTBN5(NM_016642.4):c.1199G>C (p.W400S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000845515" "0" "50" "15" "42158307" "42158307" "subst" "0.000257147" "00000" "SPTBN5_000015" "g.42158307G>T" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.6751C>A" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000845528" "0" "50" "15" "42153670" "42153670" "subst" "0" "00000" "SPTBN5_000014" "g.42153670A>G" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.7762T>C" "T not found at position 7990, found A instead." "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000845533" "0" "50" "15" "42162467" "42162467" "subst" "0.0311219" "00000" "SPTBN5_000016" "g.42162467G>A" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.5647C>T" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000854001" "0" "30" "15" "42116737" "42116737" "subst" "0.000525734" "01943" "JMJD7_000017" "g.42116737C>T" "" "" "" "MAPKBP1(NM_001128608.1):c.4287C>T (p.S1429=), MAPKBP1(NM_001128608.2):c.4287C>T (p.S1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863812" "0" "30" "15" "42116076" "42116076" "subst" "0.00155605" "02326" "JMJD7_000016" "g.42116076G>T" "" "" "" "MAPKBP1(NM_001128608.2):c.4048G>T (p.G1350C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863813" "0" "30" "15" "42137121" "42137121" "subst" "0" "01943" "JMJD7_000018" "g.42137121C>G" "" "" "" "JMJD7-PLA2G4B(NM_005090.3):c.1785C>G (p.T595=), PLA2G4B(NM_001114633.1):c.1092C>G (p.T364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863814" "0" "30" "15" "42146327" "42146327" "subst" "0" "01943" "JMJD7-PLA2G4B_000033" "g.42146327G>A" "" "" "" "SPTBN5(NM_016642.4):c.9695C>T (p.T3232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863815" "0" "50" "15" "42147876" "42147876" "subst" "0" "01943" "JMJD7-PLA2G4B_000034" "g.42147876C>A" "" "" "" "SPTBN5(NM_016642.4):c.9089G>T (p.S3030I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863816" "0" "30" "15" "42160355" "42160355" "subst" "0" "01943" "JMJD7-PLA2G4B_000035" "g.42160355C>T" "" "" "" "SPTBN5(NM_016642.4):c.6119G>A (p.R2040Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863817" "0" "30" "15" "42169106" "42169106" "subst" "7.45144E-5" "01943" "JMJD7-PLA2G4B_000036" "g.42169106C>T" "" "" "" "SPTBN5(NM_016642.4):c.3752G>A (p.R1251Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863818" "0" "30" "15" "42178377" "42178377" "subst" "0.000106277" "01943" "JMJD7-PLA2G4B_000037" "g.42178377C>T" "" "" "" "SPTBN5(NM_016642.4):c.1076G>A (p.R359Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892033" "0" "10" "15" "42116671" "42116671" "subst" "0.00253327" "02326" "JMJD7_000019" "g.42116671G>A" "" "" "" "MAPKBP1(NM_001128608.2):c.4232-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892034" "0" "30" "15" "42116737" "42116737" "subst" "0.000525734" "02326" "JMJD7_000017" "g.42116737C>T" "" "" "" "MAPKBP1(NM_001128608.1):c.4287C>T (p.S1429=), MAPKBP1(NM_001128608.2):c.4287C>T (p.S1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892035" "0" "30" "15" "42145593" "42145593" "subst" "0.00285551" "02329" "JMJD7-PLA2G4B_000038" "g.42145593C>T" "" "" "" "SPTBN5(NM_016642.4):c.10033G>A (p.D3345N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936305" "0" "50" "15" "42164587" "42164587" "subst" "0" "00006" "SPTBN5_000017" "g.42164587G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_016642:c.C5078T (T1693I)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000952345" "3" "50" "15" "42152851" "42152851" "subst" "0.000191248" "00006" "SPTBN5_000018" "g.42152851C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_016642:c.7921G>A" "" "Germline" "" "" "0" "" "" "g.41860653C>T" "" "VUS" "" "0000952358" "3" "50" "15" "42152851" "42152851" "subst" "0.000191248" "00006" "SPTBN5_000018" "g.42152851C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_016642:c.7921G>A" "" "Germline" "" "" "0" "" "" "g.41860653C>T" "" "VUS" "" "0000981203" "0" "50" "15" "42145167" "42145167" "subst" "0.000367399" "01804" "JMJD7_000020" "g.42145167C>T" "" "" "" "SPTBN5(NM_016642.4):c.10202G>A (p.(Arg3401Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981204" "0" "50" "15" "42174845" "42174845" "subst" "4.30111E-6" "01804" "JMJD7-PLA2G4B_000040" "g.42174845C>T" "" "" "" "SPTBN5(NM_016642.4):c.1984G>A (p.(Val662Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001378" "0" "30" "15" "42145930" "42145930" "subst" "5.53097E-5" "01804" "JMJD7-PLA2G4B_000041" "g.42145930C>T" "" "" "" "SPTBN5(NM_016642.3):c.9830G>A (p.(Arg3277Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001379" "0" "30" "15" "42145976" "42145976" "subst" "0.00011037" "01804" "JMJD7-PLA2G4B_000042" "g.42145976C>T" "" "" "" "SPTBN5(NM_016642.3):c.9784G>A (p.(Glu3262Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001380" "0" "50" "15" "42147032" "42147032" "subst" "0" "01804" "JMJD7-PLA2G4B_000043" "g.42147032C>A" "" "" "" "SPTBN5(NM_016642.3):c.9566G>T (p.(Arg3189Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001381" "0" "50" "15" "42150845" "42150845" "subst" "0" "01804" "JMJD7-PLA2G4B_000044" "g.42150845C>G" "" "" "" "SPTBN5(NM_016642.3):c.8181G>C (p.(Gln2727His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001382" "0" "30" "15" "42160786" "42160786" "subst" "0" "01804" "JMJD7-PLA2G4B_000045" "g.42160786G>A" "" "" "" "SPTBN5(NM_016642.3):c.5867C>T (p.(Ala1956Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001383" "0" "30" "15" "42168403" "42168403" "subst" "9.16896E-5" "01804" "JMJD7-PLA2G4B_000046" "g.42168403G>A" "" "" "" "SPTBN5(NM_016642.3):c.4031C>T (p.(Ala1344Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001384" "0" "30" "15" "42168418" "42168418" "subst" "7.11017E-5" "01804" "JMJD7-PLA2G4B_000031" "g.42168418T>A" "" "" "" "SPTBN5(NM_016642.3):c.4016A>T (p.(His1339Leu)), SPTBN5(NM_016642.4):c.4016A>T (p.H1339L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001385" "0" "30" "15" "42174271" "42174271" "subst" "9.376E-5" "01804" "JMJD7-PLA2G4B_000047" "g.42174271C>G" "" "" "" "SPTBN5(NM_016642.3):c.2320G>C (p.(Gly774Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001386" "0" "50" "15" "42175665" "42175665" "subst" "0.000227559" "01804" "JMJD7-PLA2G4B_000048" "g.42175665G>A" "" "" "" "SPTBN5(NM_016642.3):c.1540C>T (p.(Arg514Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001387" "0" "30" "15" "42178435" "42178435" "subst" "0.000264988" "01804" "JMJD7-PLA2G4B_000049" "g.42178435C>T" "" "" "" "SPTBN5(NM_016642.3):c.1018G>A (p.(Ala340Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001388" "0" "50" "15" "42185659" "42185659" "subst" "0.000156422" "01804" "JMJD7-PLA2G4B_000050" "g.42185659C>T" "" "" "" "SPTBN5(NM_016642.3):c.37G>A (p.(Gly13Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040335" "0" "50" "15" "42147003" "42147003" "subst" "4.70792E-6" "01804" "JMJD7-PLA2G4B_000051" "g.42147003G>A" "" "" "" "SPTBN5(NM_016642.4):c.9595C>T (p.(Gln3199*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040336" "0" "30" "15" "42147004" "42147004" "subst" "0" "01804" "JMJD7-PLA2G4B_000052" "g.42147004G>C" "" "" "" "SPTBN5(NM_016642.4):c.9594C>G (p.(Asp3198Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040337" "0" "50" "15" "42147078" "42147078" "dup" "0" "02325" "SPTBN5_000001" "g.42147078dup" "" "" "" "SPTBN5(NM_016642.4):c.9520dupC (p.R3174Pfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040338" "0" "50" "15" "42152916" "42152916" "subst" "0" "01804" "JMJD7-PLA2G4B_000053" "g.42152916T>C" "" "" "" "SPTBN5(NM_016642.4):c.7856A>G (p.(Lys2619Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040339" "0" "50" "15" "42162070" "42162070" "subst" "0.000103656" "01804" "JMJD7-PLA2G4B_000054" "g.42162070C>T" "" "" "" "SPTBN5(NM_016642.4):c.5822G>A (p.(Arg1941Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040340" "0" "30" "15" "42168334" "42168334" "subst" "0.00266928" "01804" "JMJD7-PLA2G4B_000055" "g.42168334C>G" "" "" "" "SPTBN5(NM_016642.4):c.4100G>C (p.(Arg1367Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040341" "0" "50" "15" "42178008" "42178008" "subst" "0.000469925" "02325" "JMJD7-PLA2G4B_000056" "g.42178008C>T" "" "" "" "SPTBN5(NM_016642.4):c.1445G>A (p.R482H)" "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 SPTBN5 ## Count = 90 "{{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}}" "0000067252" "00024236" "00" "9520" "0" "9520" "0" "c.9520dup" "r.(?)" "p.(Arg3174Profs*18)" "56" "0000251145" "00024236" "10" "11964" "0" "11964" "0" "c.*939T>C" "r.(=)" "p.(=)" "" "0000285418" "00024236" "10" "18121" "0" "18121" "0" "c.*7096G>A" "r.(=)" "p.(=)" "" "0000285419" "00024236" "10" "17423" "0" "17423" "0" "c.*6398G>A" "r.(=)" "p.(=)" "" "0000285420" "00024236" "10" "14638" "0" "14638" "0" "c.*3613C>T" "r.(=)" "p.(=)" "" "0000285421" "00024236" "10" "14453" "0" "14453" "0" "c.*3428G>A" "r.(=)" "p.(=)" "" "0000285422" "00024236" "10" "24733" "0" "24733" "0" "c.*13708C>G" "r.(=)" "p.(=)" "" "0000285423" "00024236" "10" "13709" "0" "13709" "0" "c.*2684G>A" "r.(=)" "p.(=)" "" "0000285424" "00024236" "10" "13267" "0" "13267" "0" "c.*2242G>A" "r.(=)" "p.(=)" "" "0000285425" "00024236" "10" "11976" "0" "11976" "0" "c.*951G>A" "r.(=)" "p.(=)" "" "0000285426" "00024236" "10" "24419" "0" "24419" "0" "c.*13394C>A" "r.(=)" "p.(=)" "" "0000285427" "00024236" "10" "24900" "0" "24900" "0" "c.*13875C>A" "r.(=)" "p.(=)" "" "0000285428" "00024236" "10" "19398" "0" "19398" "0" "c.*8373G>A" "r.(=)" "p.(=)" "" "0000300937" "00024236" "30" "19114" "0" "19114" "0" "c.*8089G>A" "r.(=)" "p.(=)" "" "0000315700" "00024236" "30" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "" "0000315701" "00024236" "30" "2166" "0" "2166" "0" "c.2166C>A" "r.(?)" "p.(Ala722=)" "" "0000315702" "00024236" "30" "4667" "0" "4667" "0" "c.4667A>G" "r.(?)" "p.(Gln1556Arg)" "" "0000315703" "00024236" "30" "7917" "0" "7917" "0" "c.7917C>T" "r.(?)" "p.(Ala2639=)" "" "0000324003" "00024236" "50" "36144" "0" "36144" "0" "c.*25119G>A" "r.(=)" "p.(=)" "" "0000324004" "00024236" "50" "35085" "0" "35085" "0" "c.*24060C>T" "r.(=)" "p.(=)" "" "0000324006" "00024236" "50" "22532" "0" "22532" "0" "c.*11507A>G" "r.(=)" "p.(=)" "" "0000324007" "00024236" "50" "19058" "0" "19058" "0" "c.*8033G>A" "r.(=)" "p.(=)" "" "0000324008" "00024236" "50" "19048" "0" "19048" "0" "c.*8023G>A" "r.(=)" "p.(=)" "" "0000324009" "00024236" "50" "14687" "0" "14687" "0" "c.*3662C>A" "r.(=)" "p.(=)" "" "0000324010" "00024236" "50" "13429" "0" "13429" "0" "c.*2404T>C" "r.(=)" "p.(=)" "" "0000324011" "00024236" "50" "13417" "0" "13417" "0" "c.*2392A>C" "r.(=)" "p.(=)" "" "0000324014" "00024236" "50" "8809" "0" "8809" "0" "c.8809A>T" "r.(?)" "p.(Asn2937Tyr)" "" "0000324016" "00024236" "50" "3828" "0" "3850" "0" "c.3828_3850del" "r.(?)" "p.(Gln1276HisfsTer21)" "" "0000324018" "00024236" "50" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Asp444Asn)" "" "0000324019" "00024236" "50" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Ala73Val)" "" "0000554215" "00024236" "10" "24883" "0" "24883" "0" "c.*13858G>C" "r.(=)" "p.(=)" "" "0000554217" "00024236" "10" "14623" "0" "14623" "0" "c.*3598C>G" "r.(=)" "p.(=)" "" "0000554218" "00024236" "10" "13582" "0" "13582" "0" "c.*2557C>T" "r.(=)" "p.(=)" "" "0000554219" "00024236" "30" "10875" "0" "10875" "0" "c.10875C>T" "r.(?)" "p.(Ser3625=)" "" "0000554220" "00024236" "50" "10765" "0" "10765" "0" "c.10765C>G" "r.(?)" "p.(Leu3589Val)" "" "0000554221" "00024236" "50" "10286" "0" "10286" "0" "c.10286T>C" "r.(?)" "p.(Leu3429Pro)" "" "0000554223" "00024236" "50" "7081" "0" "7081" "0" "c.7081G>A" "r.(?)" "p.(Glu2361Lys)" "" "0000554224" "00024236" "30" "4160" "0" "4160" "0" "c.4160A>G" "r.(?)" "p.(Gln1387Arg)" "" "0000554226" "00024236" "30" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430His)" "" "0000615276" "00024236" "30" "10263" "0" "10263" "0" "c.10263C>T" "r.(?)" "p.(Gly3421=)" "" "0000680161" "00024236" "30" "7437" "0" "7437" "0" "c.7437G>A" "r.(?)" "p.(Leu2479=)" "" "0000725069" "00024236" "30" "34212" "0" "34212" "0" "c.*23187T>C" "r.(=)" "p.(=)" "" "0000725070" "00024236" "30" "9500" "0" "9500" "0" "c.9500A>G" "r.(?)" "p.(Lys3167Arg)" "" "0000725071" "00024236" "30" "9355" "0" "9355" "0" "c.9355G>A" "r.(?)" "p.(Ala3119Thr)" "" "0000725072" "00024236" "30" "1985" "0" "1985" "0" "c.1985T>C" "r.(?)" "p.(Val662Ala)" "" "0000786672" "00024236" "70" "9334" "0" "9334" "0" "c.9334C>T" "r.(?)" "p.(Arg3112Ter)" "" "0000786684" "00024236" "70" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Cys)" "" "0000806674" "00024236" "30" "9094" "0" "9094" "0" "c.9094G>A" "r.(?)" "p.(Glu3032Lys)" "" "0000806675" "00024236" "30" "7317" "0" "7317" "0" "c.7317C>T" "r.(?)" "p.(His2439=)" "" "0000806676" "00024236" "30" "7050" "0" "7050" "0" "c.7050T>C" "r.(?)" "p.(His2350=)" "" "0000806677" "00024236" "30" "5138" "0" "5138" "0" "c.5138G>A" "r.(?)" "p.(Arg1713Gln)" "" "0000806678" "00024236" "30" "4016" "0" "4016" "0" "c.4016A>T" "r.(?)" "p.(His1339Leu)" "" "0000806679" "00024236" "50" "1199" "0" "1199" "0" "c.1199G>C" "r.(?)" "p.(Trp400Ser)" "" "0000845515" "00024236" "50" "6751" "0" "6751" "0" "c.6751C>A" "r.(?)" "p.(Leu2251Met)" "38" "0000845528" "00024236" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "46" "0000845533" "00024236" "50" "5647" "0" "5647" "0" "c.5647C>T" "r.(?)" "p.(Arg1883*)" "31" "0000854001" "00024236" "30" "35102" "0" "35102" "0" "c.*24077G>A" "r.(=)" "p.(=)" "" "0000863812" "00024236" "30" "35763" "0" "35763" "0" "c.*24738C>A" "r.(=)" "p.(=)" "" "0000863813" "00024236" "30" "14718" "0" "14718" "0" "c.*3693G>C" "r.(=)" "p.(=)" "" "0000863814" "00024236" "30" "9695" "0" "9695" "0" "c.9695C>T" "r.(?)" "p.(Thr3232Met)" "" "0000863815" "00024236" "50" "9089" "0" "9089" "0" "c.9089G>T" "r.(?)" "p.(Ser3030Ile)" "" "0000863816" "00024236" "30" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "" "0000863817" "00024236" "30" "3752" "0" "3752" "0" "c.3752G>A" "r.(?)" "p.(Arg1251Gln)" "" "0000863818" "00024236" "30" "1076" "0" "1076" "0" "c.1076G>A" "r.(?)" "p.(Arg359Gln)" "" "0000892033" "00024236" "10" "35168" "0" "35168" "0" "c.*24143C>T" "r.(=)" "p.(=)" "" "0000892034" "00024236" "30" "35102" "0" "35102" "0" "c.*24077G>A" "r.(=)" "p.(=)" "" "0000892035" "00024236" "30" "10033" "0" "10033" "0" "c.10033G>A" "r.(?)" "p.(Asp3345Asn)" "" "0000936305" "00024236" "50" "5078" "0" "5078" "0" "c.5078C>T" "r.(?)" "p.(Thr1693Ile)" "" "0000952345" "00024236" "50" "7921" "0" "7921" "0" "c.7921G>A" "r.(?)" "p.(Gly2641Ser)" "" "0000952358" "00024236" "50" "7921" "0" "7921" "0" "c.7921G>A" "r.(?)" "p.(Gly2641Ser)" "" "0000981203" "00024236" "50" "10202" "0" "10202" "0" "c.10202G>A" "r.(?)" "p.(Arg3401Gln)" "" "0000981204" "00024236" "50" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Val662Met)" "" "0001001378" "00024236" "30" "9830" "0" "9830" "0" "c.9830G>A" "r.(?)" "p.(Arg3277Gln)" "" "0001001379" "00024236" "30" "9784" "0" "9784" "0" "c.9784G>A" "r.(?)" "p.(Glu3262Lys)" "" "0001001380" "00024236" "50" "9566" "0" "9566" "0" "c.9566G>T" "r.(?)" "p.(Arg3189Leu)" "" "0001001381" "00024236" "50" "8181" "0" "8181" "0" "c.8181G>C" "r.(?)" "p.(Gln2727His)" "" "0001001382" "00024236" "30" "5867" "0" "5867" "0" "c.5867C>T" "r.(?)" "p.(Ala1956Val)" "" "0001001383" "00024236" "30" "4031" "0" "4031" "0" "c.4031C>T" "r.(?)" "p.(Ala1344Val)" "" "0001001384" "00024236" "30" "4016" "0" "4016" "0" "c.4016A>T" "r.(?)" "p.(His1339Leu)" "" "0001001385" "00024236" "30" "2320" "0" "2320" "0" "c.2320G>C" "r.(?)" "p.(Gly774Arg)" "" "0001001386" "00024236" "50" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514Cys)" "" "0001001387" "00024236" "30" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Ala340Thr)" "" "0001001388" "00024236" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Gly13Arg)" "" "0001040335" "00024236" "50" "9595" "0" "9595" "0" "c.9595C>T" "r.(?)" "p.(Gln3199*)" "" "0001040336" "00024236" "30" "9594" "0" "9594" "0" "c.9594C>G" "r.(?)" "p.(Asp3198Glu)" "" "0001040337" "00024236" "50" "9520" "0" "9520" "0" "c.9520dup" "r.(?)" "p.(Arg3174Profs*18)" "" "0001040338" "00024236" "50" "7856" "0" "7856" "0" "c.7856A>G" "r.(?)" "p.(Lys2619Arg)" "" "0001040339" "00024236" "50" "5822" "0" "5822" "0" "c.5822G>A" "r.(?)" "p.(Arg1941Gln)" "" "0001040340" "00024236" "30" "4100" "0" "4100" "0" "c.4100G>C" "r.(?)" "p.(Arg1367Thr)" "" "0001040341" "00024236" "50" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Arg482His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000039640" "0000067252" "0000375331" "0000786672" "0000375331" "0000786684" "0000408603" "0000845515" "0000408604" "0000845528" "0000408605" "0000845533" "0000440147" "0000936305" "0000445376" "0000952345" "0000445377" "0000952358"