### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIK3R5) # 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}}" "PIK3R5" "phosphoinositide-3-kinase, regulatory subunit 5" "17" "p13.1" "unknown" "NG_030374.1" "UD_136018810245" "" "https://www.LOVD.nl/PIK3R5" "" "1" "30035" "23533" "611317" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/PIK3R5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-10-14 00:00:00" "00006" "2017-07-04 21:16:30" "00000" "2025-11-01 13:22:20" ## 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}}" "00024288" "PIK3R5" "transcript variant 1" "004" "NM_001142633.2" "" "NP_001136105.1" "" "" "" "-130" "4366" "2643" "8869029" "8782233" "00006" "2017-07-04 21:15:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00853" "AOA3" "ataxia-oculomotor apraxia, type 3 (AOA-3)" "AR" "615217" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05519" "AOA" "ataxia-oculomotor apraxia (AOA)" "" "" "" "" "" "00006" "2018-11-17 09:09:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PIK3R5" "00853" "PIK3R5" "05519" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00117895" "" "" "" "1" "" "02061" "" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00117895" "00853" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00853, 05519 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000093276" "00853" "00117895" "02061" "Familial, autosomal recessive" "" "truncal ataxia with impaired ocular movement, elevated alpha-fetoprotein levels" "14y" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000118358" "00117895" "1" "02061" "02061" "2011-10-18 13:53:58" "00006" "2011-10-18 14:01:02" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000118358" "PIK3R5" ## 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 = 44 "{{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}}" "0000194454" "3" "70" "17" "8790433" "8790433" "subst" "0.00219291" "02061" "PIK3R5_000001" "g.8790433G>A" "" "" "" "" "absent in 954 alleles from ethnically matched normal controls" "Germline" "" "rs61761068" "0" "" "" "g.8887116G>A" "" "likely pathogenic" "" "0000253492" "0" "10" "17" "8792029" "8792029" "subst" "0.40187" "01943" "PIK3R5_000017" "g.8792029A>G" "" "" "" "PIK3R5(NM_014308.3):c.1075T>C (p.L359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8888712A>G" "" "benign" "" "0000253533" "0" "10" "17" "8791540" "8791540" "subst" "0.000675698" "01943" "PIK3R5_000012" "g.8791540A>G" "" "" "" "PIK3R5(NM_001251851.1):c.406T>C (p.F136L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8888223A>G" "" "benign" "" "0000253924" "0" "10" "17" "8785087" "8785087" "subst" "0.221336" "01943" "PIK3R5_000004" "g.8785087A>C" "" "" "" "PIK3R5(NM_014308.3):c.2299+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8881770A>C" "" "benign" "" "0000254682" "0" "30" "17" "8792028" "8792028" "subst" "0.00179575" "01943" "PIK3R5_000016" "g.8792028A>G" "" "" "" "PIK3R5(NM_014308.3):c.1076T>C (p.L359S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8888711A>G" "" "likely benign" "" "0000256414" "0" "50" "17" "8791619" "8791619" "subst" "0" "01943" "PIK3R5_000013" "g.8791619A>T" "" "" "" "PIK3R5(NM_001251851.1):c.327T>A (p.P109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8888302A>T" "" "VUS" "" "0000305647" "0" "50" "17" "8788068" "8788068" "subst" "2.0349E-5" "01943" "PIK3R5_000007" "g.8788068C>T" "" "" "" "PIK3R5(NM_001251851.1):c.1003G>A (p.D335N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8884751C>T" "" "VUS" "" "0000305648" "0" "10" "17" "8792093" "8792093" "subst" "0.246328" "01943" "PIK3R5_000018" "g.8792093G>A" "" "" "" "PIK3R5(NM_014308.3):c.1011C>T (p.D337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8888776G>A" "" "benign" "" "0000305649" "0" "10" "17" "8792003" "8792003" "subst" "0.246855" "01943" "PIK3R5_000015" "g.8792003C>T" "" "" "" "PIK3R5(NM_014308.3):c.1101G>A (p.S367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8888686C>T" "" "benign" "" "0000305650" "0" "10" "17" "8784942" "8784942" "subst" "0.000798299" "01943" "PIK3R5_000003" "g.8784942C>T" "" "" "" "PIK3R5(NM_001251851.1):c.1224+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8881625C>T" "" "benign" "" "0000305651" "0" "30" "17" "8784042" "8784042" "subst" "0.00296997" "01943" "PIK3R5_000002" "g.8784042G>A" "" "" "" "PIK3R5(NM_001251851.1):c.1399C>T (p.P467S), PIK3R5(NM_001251851.2):c.1399C>T (p.P467S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8880725G>A" "" "likely benign" "" "0000305652" "0" "50" "17" "8791527" "8791527" "subst" "0" "01943" "PIK3R5_000011" "g.8791527C>T" "" "" "" "PIK3R5(NM_014308.3):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8888210C>T" "" "VUS" "" "0000305653" "0" "10" "17" "8814797" "8814797" "subst" "0.00133169" "01943" "PIK3R5_000029" "g.8814797G>A" "" "" "" "PIK3R5(NM_001142633.2):c.15C>T (p.A5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8911480G>A" "" "benign" "" "0000305654" "0" "30" "17" "8791782" "8791782" "subst" "1.39307E-5" "01943" "PIK3R5_000014" "g.8791782C>T" "" "" "" "PIK3R5(NM_001251851.1):c.164G>A (p.R55Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8888465C>T" "" "likely benign" "" "0000305655" "0" "10" "17" "8790850" "8790850" "subst" "0.0067829" "01943" "PIK3R5_000010" "g.8790850G>A" "" "" "" "PIK3R5(NM_014308.3):c.1767C>T (p.H589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8887533G>A" "" "benign" "" "0000305656" "0" "10" "17" "8790473" "8790473" "subst" "0.0073343" "01943" "PIK3R5_000009" "g.8790473G>A" "" "" "" "PIK3R5(NM_014308.3):c.1845C>T (p.D615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8887156G>A" "" "benign" "" "0000305657" "0" "30" "17" "8790433" "8790433" "subst" "0.00219291" "01943" "PIK3R5_000001" "g.8790433G>A" "" "" "" "PIK3R5(NM_014308.3):c.1885C>T (p.P629S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8887116G>A" "" "likely benign" "" "0000305658" "0" "10" "17" "8788014" "8788014" "subst" "0.00405496" "01943" "PIK3R5_000006" "g.8788014C>T" "" "" "" "PIK3R5(NM_014308.3):c.2205+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8884697C>T" "" "benign" "" "0000305659" "0" "10" "17" "8785092" "8785092" "subst" "0.210704" "01943" "PIK3R5_000005" "g.8785092C>T" "" "" "" "PIK3R5(NM_014308.3):c.2299+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8881775C>T" "" "benign" "" "0000305660" "0" "10" "17" "8809025" "8809025" "subst" "0.040821" "01943" "PIK3R5_000027" "g.8809025G>A" "" "" "" "PIK3R5(NM_014308.3):c.234C>T (p.L78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8905708G>A" "" "benign" "" "0000305661" "0" "30" "17" "8808966" "8808966" "subst" "0.00996643" "01943" "PIK3R5_000026" "g.8808966C>T" "" "" "" "PIK3R5(NM_014308.3):c.273+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8905649C>T" "" "likely benign" "" "0000305662" "0" "30" "17" "8808174" "8808174" "subst" "0.000666439" "01943" "PIK3R5_000025" "g.8808174C>T" "" "" "" "PIK3R5(NM_001142633.2):c.332G>A (p.R111Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8904857C>T" "" "likely benign" "" "0000305663" "0" "30" "17" "8794115" "8794115" "subst" "0.000868192" "01943" "PIK3R5_000024" "g.8794115G>A" "" "" "" "PIK3R5(NM_014308.3):c.597C>T (p.H199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8890798G>A" "" "likely benign" "" "0000305664" "0" "30" "17" "8793283" "8793283" "subst" "0.000630153" "01943" "PIK3R5_000022" "g.8793283G>C" "" "" "" "PIK3R5(NM_014308.3):c.811+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8889966G>C" "" "likely benign" "" "0000305665" "0" "10" "17" "8792514" "8792514" "subst" "0.400598" "01943" "PIK3R5_000021" "g.8792514G>A" "" "" "" "PIK3R5(NM_014308.3):c.837C>T (p.H279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8889197G>A" "" "benign" "" "0000305666" "0" "50" "17" "8792490" "8792490" "subst" "0.000126137" "01943" "PIK3R5_000020" "g.8792490C>T" "" "" "" "PIK3R5(NM_001142633.2):c.861G>A (p.R287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8889173C>T" "" "VUS" "" "0000305667" "0" "10" "17" "8814719" "8814719" "subst" "0.0438945" "01943" "PIK3R5_000028" "g.8814719G>A" "" "" "" "PIK3R5(NM_014308.3):c.93C>T (p.T31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8911402G>A" "" "benign" "" "0000305668" "0" "50" "17" "8788075" "8788075" "subst" "0.000154703" "01943" "PIK3R5_000008" "g.8788075G>C" "" "" "" "PIK3R5(NM_001251851.1):c.996C>G (p.I332M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8884758G>C" "" "VUS" "" "0000325181" "0" "50" "17" "8792168" "8792173" "del" "0" "01804" "PIK3R5_000019" "g.8792168_8792173del" "" "" "" "PIK3R5(NM_001142633.2):c.932_937del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8888851_8888856del" "" "VUS" "" "0000325182" "0" "50" "17" "8793372" "8793372" "subst" "0.000101528" "01804" "PIK3R5_000023" "g.8793372G>C" "" "" "" "PIK3R5(NM_001142633.2):c.729C>G (p.(Ile243Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8890055G>C" "" "VUS" "" "0000563851" "0" "50" "17" "8790857" "8790857" "subst" "0" "01943" "PIK3R5_000030" "g.8790857G>C" "" "" "" "PIK3R5(NM_001251851.1):c.602C>G (p.P201R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8887540G>C" "" "VUS" "" "0000563852" "0" "10" "17" "8791494" "8791494" "subst" "0.00377241" "01943" "PIK3R5_000031" "g.8791494T>C" "" "" "" "PIK3R5(NM_001251851.1):c.452A>G (p.N151S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8888177T>C" "" "benign" "" "0000563854" "0" "30" "17" "8791532" "8791532" "subst" "2.44421E-5" "01943" "PIK3R5_000033" "g.8791532G>A" "" "" "" "PIK3R5(NM_001251851.1):c.414C>T (p.S138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8888215G>A" "" "likely benign" "" "0000563855" "0" "50" "17" "8791675" "8791675" "subst" "0.000164788" "01943" "PIK3R5_000034" "g.8791675G>A" "" "" "" "PIK3R5(NM_001251851.1):c.271C>T (p.R91C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8888358G>A" "" "VUS" "" "0000563856" "0" "10" "17" "8792171" "8792171" "subst" "0.247926" "01943" "PIK3R5_000035" "g.8792171T>C" "" "" "" "PIK3R5(NM_014308.3):c.933A>G (p.L311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8888854T>C" "" "benign" "" "0000563857" "0" "30" "17" "8794081" "8794081" "subst" "0.000382942" "01943" "PIK3R5_000036" "g.8794081C>T" "" "" "" "PIK3R5(NM_001142633.2):c.631G>A (p.V211I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8890764C>T" "" "likely benign" "" "0000563859" "0" "50" "17" "8808112" "8808112" "subst" "0.000158461" "02325" "PIK3R5_000038" "g.8808112C>T" "" "" "" "PIK3R5(NM_001142633.3):c.394G>A (p.A132T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8904795C>T" "" "VUS" "" "0000563860" "0" "30" "17" "8814726" "8814726" "subst" "0.000238938" "02325" "PIK3R5_000039" "g.8814726C>T" "" "" "" "PIK3R5(NM_001142633.3):c.86G>A (p.R29H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8911409C>T" "" "likely benign" "" "0000616944" "0" "50" "17" "8790484" "8790484" "subst" "0.000150373" "02325" "PIK3R5_000040" "g.8790484C>T" "" "" "" "PIK3R5(NM_001251851.2):c.676G>A (p.G226S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8887167C>T" "" "VUS" "" "0000658310" "0" "30" "17" "8784042" "8784042" "subst" "0.00296997" "02325" "PIK3R5_000002" "g.8784042G>A" "" "" "" "PIK3R5(NM_001251851.1):c.1399C>T (p.P467S), PIK3R5(NM_001251851.2):c.1399C>T (p.P467S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8880725G>A" "" "likely benign" "" "0000726800" "0" "30" "17" "8784998" "8784998" "subst" "0" "01943" "PIK3R5_000041" "g.8784998C>A" "" "" "" "PIK3R5(NM_001251851.1):c.1173G>T (p.L391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808368" "0" "50" "17" "8789554" "8789554" "subst" "0" "01943" "PIK3R5_000042" "g.8789554T>C" "" "" "" "PIK3R5(NM_001251851.1):c.962A>G (p.K321R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855188" "0" "30" "17" "8791595" "8791595" "subst" "0" "01943" "PIK3R5_000043" "g.8791595G>T" "" "" "" "PIK3R5(NM_001251851.1):c.351C>A (p.R117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055841" "0" "50" "17" "8792013" "8792013" "subst" "4.12361E-6" "01804" "PIK3R5_000044" "g.8792013G>A" "" "" "" "PIK3R5(NM_001142633.3):c.1091C>T (p.(Ser364Phe))" "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 PIK3R5 ## Count = 44 "{{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}}" "0000194454" "00024288" "70" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Pro629Ser)" "12" "0000253492" "00024288" "10" "1075" "0" "1075" "0" "c.1075T>C" "r.(?)" "p.(Leu359=)" "" "0000253533" "00024288" "10" "1564" "0" "1564" "0" "c.1564T>C" "r.(?)" "p.(Phe522Leu)" "" "0000253924" "00024288" "10" "2299" "18" "2299" "18" "c.2299+18T>G" "r.(=)" "p.(=)" "" "0000254682" "00024288" "30" "1076" "0" "1076" "0" "c.1076T>C" "r.(?)" "p.(Leu359Ser)" "" "0000256414" "00024288" "50" "1485" "0" "1485" "0" "c.1485T>A" "r.(?)" "p.(Pro495=)" "" "0000305647" "00024288" "50" "2161" "0" "2161" "0" "c.2161G>A" "r.(?)" "p.(Asp721Asn)" "" "0000305648" "00024288" "10" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(Asp337=)" "" "0000305649" "00024288" "10" "1101" "0" "1101" "0" "c.1101G>A" "r.(?)" "p.(Ser367=)" "" "0000305650" "00024288" "10" "2382" "5" "2382" "5" "c.2382+5G>A" "r.spl?" "p.?" "" "0000305651" "00024288" "30" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Pro853Ser)" "" "0000305652" "00024288" "50" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "0000305653" "00024288" "10" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Ala5=)" "" "0000305654" "00024288" "30" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" "0000305655" "00024288" "10" "1767" "0" "1767" "0" "c.1767C>T" "r.(?)" "p.(His589=)" "" "0000305656" "00024288" "10" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(Asp615=)" "" "0000305657" "00024288" "30" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Pro629Ser)" "" "0000305658" "00024288" "10" "2205" "10" "2205" "10" "c.2205+10G>A" "r.(=)" "p.(=)" "" "0000305659" "00024288" "10" "2299" "13" "2299" "13" "c.2299+13G>A" "r.(=)" "p.(=)" "" "0000305660" "00024288" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Leu78=)" "" "0000305661" "00024288" "30" "273" "20" "273" "20" "c.273+20G>A" "r.(=)" "p.(=)" "" "0000305662" "00024288" "30" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Gln)" "" "0000305663" "00024288" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(His199=)" "" "0000305664" "00024288" "30" "811" "7" "811" "7" "c.811+7C>G" "r.(=)" "p.(=)" "" "0000305665" "00024288" "10" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(His279=)" "" "0000305666" "00024288" "50" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Arg287=)" "" "0000305667" "00024288" "10" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Thr31=)" "" "0000305668" "00024288" "50" "2154" "0" "2154" "0" "c.2154C>G" "r.(?)" "p.(Ile718Met)" "" "0000325181" "00024288" "50" "932" "0" "937" "0" "c.932_937del" "r.(?)" "p.(Leu311_Leu312del)" "" "0000325182" "00024288" "50" "729" "0" "729" "0" "c.729C>G" "r.(?)" "p.(Ile243Met)" "" "0000563851" "00024288" "50" "1760" "0" "1760" "0" "c.1760C>G" "r.(?)" "p.(Pro587Arg)" "" "0000563852" "00024288" "10" "1610" "0" "1610" "0" "c.1610A>G" "r.(?)" "p.(Asn537Ser)" "" "0000563854" "00024288" "30" "1572" "0" "1572" "0" "c.1572C>T" "r.(?)" "p.(Ser524=)" "" "0000563855" "00024288" "50" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Cys)" "" "0000563856" "00024288" "10" "933" "0" "933" "0" "c.933A>G" "r.(?)" "p.(Leu311=)" "" "0000563857" "00024288" "30" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Val211Ile)" "" "0000563859" "00024288" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "" "0000563860" "00024288" "30" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Arg29His)" "" "0000616944" "00024288" "50" "1834" "0" "1834" "0" "c.1834G>A" "r.(?)" "p.(Gly612Ser)" "" "0000658310" "00024288" "30" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Pro853Ser)" "" "0000726800" "00024288" "30" "2331" "0" "2331" "0" "c.2331G>T" "r.(?)" "p.(Leu777=)" "" "0000808368" "00024288" "50" "2120" "0" "2120" "0" "c.2120A>G" "r.(?)" "p.(Lys707Arg)" "" "0000855188" "00024288" "30" "1509" "0" "1509" "0" "c.1509C>A" "r.(?)" "p.(Arg503=)" "" "0001055841" "00024288" "50" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Ser364Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000118358" "0000194454"