### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EFEMP2) # 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}}" "EFEMP2" "EGF containing fibulin-like extracellular matrix protein 2" "11" "q13" "unknown" "NG_012304.2" "UD_132118475293" "" "https://www.LOVD.nl/EFEMP2" "" "1" "3219" "30008" "604633" "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/EFEMP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-04-21 17:54:22" "00006" "2025-09-24 08:32:36" ## 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}}" "00006904" "EFEMP2" "transcript variant 1" "002" "NM_016938.4" "" "NP_058634.4" "" "" "" "-259" "1809" "1332" "65640405" "65633912" "" "0000-00-00 00:00:00" "" "" ## 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}}" "03648" "ARCL1B" "cutis laxa, autosomal recessive, type 1B (ARCL-1B)" "AR" "614437" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EFEMP2" "03648" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00080968" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00103746" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "F" "" "Switzerland" "33y" "0" "" "" "Europe" "SUDS047" "00331423" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "17DG0797" "00442660" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat32" "00466832" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat119" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00080968" "03648" "00103746" "05166" "00331423" "05517" "00442660" "05618" "00466832" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03648, 05166, 05296, 05517, 05618 ## Count = 5 "{{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}}" "0000060537" "03648" "00080968" "01758" "Familial, autosomal recessive" "" "Cutis laxa, autosomal recessive, type IB (OMIM:614437)" "" "" "" "" "" "" "" "" "" "0000081682" "05166" "00103746" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "0000249615" "05517" "00331423" "00000" "Familial, autosomal recessive" "" "Feeding difficulties, Generalized hypotonia, Multiple joint dislocation, Delayed gross motoNo" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "0000332007" "05618" "00442660" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Connective tissue disorder, scoliosis, joint dislocations and contractures" "0000352195" "05296" "00466832" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081080" "00080968" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104201" "00103746" "1" "01602" "01602" "2017-04-18 11:55:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000332642" "00331423" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444144" "00442660" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468496" "00466832" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000081080" "EFEMP2" "0000332642" "EFEMP2" ## 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 = 83 "{{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}}" "0000130166" "3" "90" "11" "65638016" "65638016" "subst" "1.22135E-5" "01758" "EFEMP2_000001" "g.65638016C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.65870545C>T" "" "pathogenic" "ACMG" "0000168858" "0" "50" "11" "65637645" "65637645" "subst" "3.25529E-5" "01602" "EFEMP2_000002" "g.65637645C>T" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Unknown" "" "rs143662598" "0" "" "" "g.65870174C>T" "" "VUS" "" "0000250545" "0" "50" "11" "65637705" "65637705" "subst" "0" "02329" "EFEMP2_000014" "g.65637705A>G" "" "" "" "EFEMP2(NM_016938.5):c.494T>C (p.I165T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870234A>G" "" "VUS" "" "0000267770" "0" "10" "11" "65636053" "65636053" "subst" "0.975535" "02325" "EFEMP2_000009" "g.65636053T>C" "" "" "" "EFEMP2(NM_016938.4):c.775A>G (p.I259V), EFEMP2(NM_016938.5):c.775A>G (p.I259V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65868582T>C" "" "benign" "" "0000268762" "0" "30" "11" "65635315" "65635315" "subst" "0.000109815" "02329" "EFEMP2_000004" "g.65635315G>A" "" "" "" "EFEMP2(NM_016938.5):c.1170+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65867844G>A" "" "likely benign" "" "0000268763" "0" "10" "11" "65634533" "65634533" "subst" "0.00220243" "02329" "EFEMP2_000003" "g.65634533G>A" "" "" "" "EFEMP2(NM_016938.4):c.1188C>T (p.S396=), EFEMP2(NM_016938.5):c.1188C>T (p.S396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65867062G>A" "" "benign" "" "0000268764" "0" "10" "11" "65638719" "65638719" "subst" "0.44924" "02329" "EFEMP2_000022" "g.65638719G>A" "" "" "" "EFEMP2(NM_016938.4):c.276C>T (p.H92=), EFEMP2(NM_016938.5):c.276C>T (p.H92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871248G>A" "" "benign" "" "0000268765" "0" "30" "11" "65638718" "65638718" "subst" "0.00318787" "02329" "EFEMP2_000021" "g.65638718C>T" "" "" "" "EFEMP2(NM_016938.4):c.277G>A (p.G93S), EFEMP2(NM_016938.5):c.277G>A (p.G93S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871247C>T" "" "likely benign" "" "0000268766" "0" "30" "11" "65638140" "65638140" "subst" "0.00260258" "02329" "EFEMP2_000019" "g.65638140C>T" "" "" "" "EFEMP2(NM_016938.5):c.368-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870669C>T" "" "likely benign" "" "0000268767" "0" "30" "11" "65638133" "65638133" "subst" "0.00171809" "02329" "EFEMP2_000018" "g.65638133C>T" "" "" "" "EFEMP2(NM_016938.4):c.368-4G>A (p.?), EFEMP2(NM_016938.5):c.368-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870662C>T" "" "likely benign" "" "0000268768" "0" "30" "11" "65637573" "65637573" "subst" "4.08563E-6" "02329" "EFEMP2_000012" "g.65637573T>C" "" "" "" "EFEMP2(NM_016938.5):c.607+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870102T>C" "" "likely benign" "" "0000268769" "0" "10" "11" "65636053" "65636053" "subst" "0.975535" "02329" "EFEMP2_000009" "g.65636053T>C" "" "" "" "EFEMP2(NM_016938.4):c.775A>G (p.I259V), EFEMP2(NM_016938.5):c.775A>G (p.I259V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65868582T>C" "" "benign" "" "0000268770" "0" "30" "11" "65635855" "65635855" "subst" "0.000130073" "02329" "EFEMP2_000008" "g.65635855G>A" "" "" "" "EFEMP2(NM_016938.4):c.885C>T (p.S295=), EFEMP2(NM_016938.5):c.885C>T (p.S295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65868384G>A" "" "likely benign" "" "0000268771" "0" "30" "11" "65639730" "65639730" "subst" "0" "02329" "EFEMP2_000027" "g.65639730C>T" "" "" "" "EFEMP2(NM_016938.5):c.96G>A (p.E32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65872259C>T" "" "likely benign" "" "0000271082" "0" "10" "11" "65637984" "65637984" "subst" "0.597638" "02326" "EFEMP2_000016" "g.65637984C>G" "" "" "" "EFEMP2(NM_016938.4):c.490+23G>C, EFEMP2(NM_016938.5):c.490+23G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870513C>G" "" "benign" "" "0000275941" "0" "30" "11" "65635455" "65635455" "subst" "0" "01943" "EFEMP2_000006" "g.65635455G>A" "" "" "" "EFEMP2(NM_016938.4):c.1047C>T (p.T349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65867984G>A" "" "likely benign" "" "0000275942" "0" "50" "11" "65635437" "65635437" "subst" "6.49894E-5" "01943" "EFEMP2_000005" "g.65635437G>T" "" "" "" "EFEMP2(NM_016938.4):c.1065C>A (p.S355R), EFEMP2(NM_016938.5):c.1065C>A (p.S355R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65867966G>T" "" "VUS" "" "0000275943" "0" "30" "11" "65634533" "65634533" "subst" "0.00220243" "01943" "EFEMP2_000003" "g.65634533G>A" "" "" "" "EFEMP2(NM_016938.4):c.1188C>T (p.S396=), EFEMP2(NM_016938.5):c.1188C>T (p.S396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65867062G>A" "" "likely benign" "" "0000275944" "0" "10" "11" "65639463" "65639463" "subst" "0.000878193" "01943" "EFEMP2_000026" "g.65639463G>A" "" "" "" "EFEMP2(NM_016938.4):c.138C>T (p.D46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871992G>A" "" "benign" "" "0000275945" "0" "30" "11" "65639462" "65639462" "subst" "0.000965406" "01943" "EFEMP2_000025" "g.65639462G>A" "" "" "" "EFEMP2(NM_016938.4):c.139C>T (p.P47S), EFEMP2(NM_016938.5):c.139C>T (p.P47S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871991G>A" "" "likely benign" "" "0000275946" "0" "30" "11" "65639424" "65639424" "subst" "0" "01943" "EFEMP2_000024" "g.65639424C>A" "" "" "" "EFEMP2(NM_016938.4):c.160+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871953C>A" "" "likely benign" "" "0000275947" "0" "10" "11" "65638844" "65638844" "subst" "0.000928558" "01943" "EFEMP2_000023" "g.65638844G>A" "" "" "" "EFEMP2(NM_016938.4):c.161-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871373G>A" "" "benign" "" "0000275948" "0" "10" "11" "65638719" "65638719" "subst" "0.44924" "01943" "EFEMP2_000022" "g.65638719G>A" "" "" "" "EFEMP2(NM_016938.4):c.276C>T (p.H92=), EFEMP2(NM_016938.5):c.276C>T (p.H92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871248G>A" "" "benign" "" "0000275949" "0" "30" "11" "65638718" "65638718" "subst" "0.00318787" "01943" "EFEMP2_000021" "g.65638718C>T" "" "" "" "EFEMP2(NM_016938.4):c.277G>A (p.G93S), EFEMP2(NM_016938.5):c.277G>A (p.G93S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871247C>T" "" "likely benign" "" "0000275950" "0" "10" "11" "65638540" "65638540" "del" "0" "01943" "EFEMP2_000020" "g.65638540del" "" "" "" "EFEMP2(NM_016938.4):c.367+90delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871069del" "" "benign" "" "0000275951" "0" "30" "11" "65638133" "65638133" "subst" "0.00171809" "01943" "EFEMP2_000018" "g.65638133C>T" "" "" "" "EFEMP2(NM_016938.4):c.368-4G>A (p.?), EFEMP2(NM_016938.5):c.368-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870662C>T" "" "likely benign" "" "0000275952" "0" "50" "11" "65638100" "65638100" "subst" "2.44258E-5" "01943" "EFEMP2_000017" "g.65638100C>T" "" "" "" "EFEMP2(NM_016938.4):c.397G>A (p.D133N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870629C>T" "" "VUS" "" "0000275953" "0" "10" "11" "65637984" "65637984" "subst" "0.597638" "01943" "EFEMP2_000016" "g.65637984C>G" "" "" "" "EFEMP2(NM_016938.4):c.490+23G>C, EFEMP2(NM_016938.5):c.490+23G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870513C>G" "" "benign" "" "0000275954" "0" "10" "11" "65637737" "65637743" "del" "0" "01943" "EFEMP2_000015" "g.65637737_65637743del" "" "" "" "EFEMP2(NM_016938.4):c.491-28_491-22delGCCCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870266_65870272del" "" "benign" "" "0000275955" "0" "50" "11" "65637694" "65637694" "subst" "0" "01943" "EFEMP2_000013" "g.65637694G>T" "" "" "" "EFEMP2(NM_016938.4):c.505C>A (p.R169S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870223G>T" "" "VUS" "" "0000275956" "0" "10" "11" "65637490" "65637492" "del" "0" "01943" "EFEMP2_000011" "g.65637490_65637492del" "" "" "" "EFEMP2(NM_016938.4):c.608-38_608-36delTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870019_65870021del" "" "benign" "" "0000275957" "0" "10" "11" "65636053" "65636053" "subst" "0.975535" "01943" "EFEMP2_000009" "g.65636053T>C" "" "" "" "EFEMP2(NM_016938.4):c.775A>G (p.I259V), EFEMP2(NM_016938.5):c.775A>G (p.I259V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65868582T>C" "" "benign" "" "0000275959" "0" "30" "11" "65635855" "65635855" "subst" "0.000130073" "01943" "EFEMP2_000008" "g.65635855G>A" "" "" "" "EFEMP2(NM_016938.4):c.885C>T (p.S295=), EFEMP2(NM_016938.5):c.885C>T (p.S295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65868384G>A" "" "likely benign" "" "0000275960" "0" "50" "11" "65635817" "65635817" "subst" "1.21956E-5" "01943" "EFEMP2_000007" "g.65635817C>T" "" "" "" "EFEMP2(NM_016938.4):c.923G>A (p.R308H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65868346C>T" "" "VUS" "" "0000322313" "0" "30" "11" "65638133" "65638133" "subst" "0.00171809" "01804" "EFEMP2_000018" "g.65638133C>T" "" "" "" "EFEMP2(NM_016938.4):c.368-4G>A (p.?), EFEMP2(NM_016938.5):c.368-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870662C>T" "" "likely benign" "" "0000338582" "0" "10" "11" "65640204" "65640204" "subst" "0.705807" "02327" "EFEMP2_000029" "g.65640204C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65872733C>T" "" "benign" "" "0000340365" "0" "10" "11" "65638719" "65638719" "subst" "0.44924" "02327" "EFEMP2_000022" "g.65638719G>A" "" "" "" "EFEMP2(NM_016938.4):c.276C>T (p.H92=), EFEMP2(NM_016938.5):c.276C>T (p.H92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65871248G>A" "" "benign" "" "0000342057" "0" "50" "11" "65637693" "65637693" "subst" "8.95335E-5" "02327" "EFEMP2_000028" "g.65637693C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65870222C>T" "" "VUS" "" "0000346657" "0" "10" "11" "65636053" "65636053" "subst" "0.975535" "02327" "EFEMP2_000009" "g.65636053T>C" "" "" "" "EFEMP2(NM_016938.4):c.775A>G (p.I259V), EFEMP2(NM_016938.5):c.775A>G (p.I259V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65868582T>C" "" "benign" "" "0000545022" "0" "30" "11" "65635407" "65635407" "subst" "9.74667E-5" "01943" "EFEMP2_000032" "g.65635407C>T" "" "" "" "EFEMP2(NM_016938.4):c.1095G>A (p.A365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65867936C>T" "" "likely benign" "" "0000545023" "0" "50" "11" "65635437" "65635437" "subst" "6.49894E-5" "02329" "EFEMP2_000005" "g.65635437G>T" "" "" "" "EFEMP2(NM_016938.4):c.1065C>A (p.S355R), EFEMP2(NM_016938.5):c.1065C>A (p.S355R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65867966G>T" "" "VUS" "" "0000545024" "0" "30" "11" "65635542" "65635542" "subst" "7.79916E-5" "02326" "EFEMP2_000033" "g.65635542G>A" "" "" "" "EFEMP2(NM_016938.5):c.975-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868071G>A" "" "likely benign" "" "0000545025" "0" "30" "11" "65635542" "65635542" "subst" "7.79916E-5" "02329" "EFEMP2_000033" "g.65635542G>A" "" "" "" "EFEMP2(NM_016938.5):c.975-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868071G>A" "" "likely benign" "" "0000545026" "0" "30" "11" "65635801" "65635801" "subst" "4.06504E-6" "02329" "EFEMP2_000034" "g.65635801G>A" "" "" "" "EFEMP2(NM_016938.5):c.939C>T (p.N313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868330G>A" "" "likely benign" "" "0000545027" "0" "30" "11" "65636036" "65636036" "subst" "0" "02329" "EFEMP2_000035" "g.65636036A>G" "" "" "" "EFEMP2(NM_016938.5):c.792T>C (p.R264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868565A>G" "" "likely benign" "" "0000545029" "0" "10" "11" "65638718" "65638718" "subst" "0.00318787" "02326" "EFEMP2_000021" "g.65638718C>T" "" "" "" "EFEMP2(NM_016938.4):c.277G>A (p.G93S), EFEMP2(NM_016938.5):c.277G>A (p.G93S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65871247C>T" "" "benign" "" "0000545030" "0" "30" "11" "65639462" "65639462" "subst" "0.000965406" "02329" "EFEMP2_000025" "g.65639462G>A" "" "" "" "EFEMP2(NM_016938.4):c.139C>T (p.P47S), EFEMP2(NM_016938.5):c.139C>T (p.P47S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65871991G>A" "" "likely benign" "" "0000545031" "0" "30" "11" "65639792" "65639792" "subst" "2.01272E-5" "02329" "EFEMP2_000037" "g.65639792G>A" "" "" "" "EFEMP2(NM_016938.5):c.34C>T (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65872321G>A" "" "likely benign" "" "0000545032" "0" "30" "11" "65639799" "65639799" "subst" "0.000181269" "01943" "EFEMP2_000038" "g.65639799G>C" "" "" "" "EFEMP2(NM_016938.4):c.27C>G (p.P9=), EFEMP2(NM_016938.5):c.27C>G (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65872328G>C" "" "likely benign" "" "0000545033" "0" "30" "11" "65639799" "65639799" "subst" "0.000181269" "02329" "EFEMP2_000038" "g.65639799G>C" "" "" "" "EFEMP2(NM_016938.4):c.27C>G (p.P9=), EFEMP2(NM_016938.5):c.27C>G (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65872328G>C" "" "likely benign" "" "0000613562" "0" "30" "11" "65634107" "65634107" "subst" "0.000745752" "02327" "EFEMP2_000041" "g.65634107G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65866636G>A" "" "likely benign" "" "0000613563" "0" "30" "11" "65635801" "65635801" "subst" "4.06504E-6" "02327" "EFEMP2_000034" "g.65635801G>A" "" "" "" "EFEMP2(NM_016938.5):c.939C>T (p.N313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868330G>A" "" "likely benign" "" "0000613564" "0" "50" "11" "65635801" "65635803" "delins" "0" "02327" "EFEMP2_000042" "g.65635801_65635803delinsATC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868330_65868332delinsATC" "" "VUS" "" "0000613565" "0" "50" "11" "65635803" "65635803" "subst" "4.06511E-6" "02327" "EFEMP2_000043" "g.65635803T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868332T>C" "" "VUS" "" "0000613566" "0" "30" "11" "65635817" "65635817" "subst" "1.21956E-5" "02327" "EFEMP2_000007" "g.65635817C>T" "" "" "" "EFEMP2(NM_016938.4):c.923G>A (p.R308H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868346C>T" "" "likely benign" "" "0000613567" "0" "30" "11" "65635855" "65635855" "subst" "0.000130073" "02327" "EFEMP2_000008" "g.65635855G>A" "" "" "" "EFEMP2(NM_016938.4):c.885C>T (p.S295=), EFEMP2(NM_016938.5):c.885C>T (p.S295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868384G>A" "" "likely benign" "" "0000613568" "0" "30" "11" "65635868" "65635868" "subst" "0" "02327" "EFEMP2_000044" "g.65635868G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868397G>A" "" "likely benign" "" "0000613569" "0" "10" "11" "65635911" "65635911" "subst" "0" "02327" "EFEMP2_000045" "g.65635911G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868440G>A" "" "benign" "" "0000613570" "0" "30" "11" "65638705" "65638705" "subst" "2.8444E-5" "02327" "EFEMP2_000047" "g.65638705G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65871234G>A" "" "likely benign" "" "0000613571" "0" "50" "11" "65638786" "65638786" "subst" "2.03047E-5" "02327" "EFEMP2_000048" "g.65638786T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65871315T>C" "" "VUS" "" "0000613572" "0" "30" "11" "65639462" "65639462" "subst" "0.000965406" "02327" "EFEMP2_000025" "g.65639462G>A" "" "" "" "EFEMP2(NM_016938.4):c.139C>T (p.P47S), EFEMP2(NM_016938.5):c.139C>T (p.P47S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65871991G>A" "" "likely benign" "" "0000613573" "0" "30" "11" "65639727" "65639727" "subst" "8.72671E-5" "02326" "EFEMP2_000049" "g.65639727G>A" "" "" "" "EFEMP2(NM_016938.5):c.99C>T (p.P33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65872256G>A" "" "likely benign" "" "0000622680" "0" "30" "11" "65636054" "65636054" "subst" "1.21911E-5" "01943" "EFEMP2_000046" "g.65636054G>A" "" "" "" "EFEMP2(NM_016938.4):c.774C>T (p.C258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868583G>A" "" "likely benign" "" "0000656856" "0" "50" "11" "65635437" "65635437" "subst" "6.49894E-5" "02326" "EFEMP2_000005" "g.65635437G>T" "" "" "" "EFEMP2(NM_016938.4):c.1065C>A (p.S355R), EFEMP2(NM_016938.5):c.1065C>A (p.S355R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65867966G>T" "" "VUS" "" "0000656857" "0" "50" "11" "65635806" "65635806" "subst" "0.000662661" "01943" "EFEMP2_000050" "g.65635806T>C" "" "" "" "EFEMP2(NM_016938.4):c.934A>G (p.T312A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65868335T>C" "" "VUS" "" "0000656858" "0" "30" "11" "65637635" "65637635" "subst" "1.62804E-5" "01943" "EFEMP2_000051" "g.65637635G>A" "" "" "" "EFEMP2(NM_016938.4):c.564C>T (p.C188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65870164G>A" "" "likely benign" "" "0000656859" "0" "50" "11" "65637637" "65637637" "subst" "0" "01943" "EFEMP2_000052" "g.65637637A>C" "" "" "" "EFEMP2(NM_016938.4):c.562T>G (p.C188G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65870166A>C" "" "VUS" "" "0000656860" "0" "50" "11" "65639812" "65639812" "subst" "0" "01943" "EFEMP2_000053" "g.65639812G>T" "" "" "" "EFEMP2(NM_016938.4):c.14C>A (p.A5D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65872341G>T" "" "VUS" "" "0000723589" "0" "30" "11" "65637629" "65637629" "subst" "0.000154653" "02329" "EFEMP2_000054" "g.65637629C>T" "" "" "" "EFEMP2(NM_016938.5):c.570G>A (p.P190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723590" "0" "30" "11" "65638441" "65638441" "subst" "0" "02329" "EFEMP2_000055" "g.65638441C>T" "" "" "" "EFEMP2(NM_016938.5):c.367+187G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723591" "0" "30" "11" "65639613" "65639613" "subst" "0" "02329" "EFEMP2_000056" "g.65639613C>T" "" "" "" "EFEMP2(NM_016938.5):c.111+102G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729924" "3" "90" "11" "65637693" "65637693" "subst" "8.95335E-5" "00000" "EFEMP2_000028" "g.65637693C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_016938.4:c.506G>A:p.(Arg169His)" "" "Germline" "" "" "0" "" "" "g.65870222C>T" "" "likely pathogenic (recessive)" "" "0000853090" "0" "30" "11" "65634533" "65634533" "subst" "0.00220243" "02326" "EFEMP2_000003" "g.65634533G>A" "" "" "" "EFEMP2(NM_016938.4):c.1188C>T (p.S396=), EFEMP2(NM_016938.5):c.1188C>T (p.S396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853091" "0" "30" "11" "65638688" "65638688" "subst" "2.43696E-5" "01943" "EFEMP2_000058" "g.65638688C>T" "" "" "" "EFEMP2(NM_016938.4):c.307G>A (p.A103T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862635" "0" "50" "11" "65637427" "65637427" "subst" "6.09741E-5" "01943" "EFEMP2_000057" "g.65637427C>T" "" "" "" "EFEMP2(NM_016938.4):c.628G>A (p.G210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890080" "0" "30" "11" "65638140" "65638140" "subst" "0.00260258" "02326" "EFEMP2_000019" "g.65638140C>T" "" "" "" "EFEMP2(NM_016938.5):c.368-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925475" "0" "30" "11" "65635525" "65635525" "subst" "0.000330731" "02326" "EFEMP2_000059" "g.65635525C>T" "" "" "" "EFEMP2(NM_016938.5):c.977G>A (p.R326H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946001" "3" "90" "11" "65637693" "65637693" "subst" "8.95335E-5" "00006" "EFEMP2_000028" "g.65637693C>T" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.65870222C>T" "" "pathogenic (recessive)" "" "0000979755" "0" "50" "11" "65638656" "65638656" "subst" "0" "01804" "EFEMP2_000060" "g.65638656A>C" "" "" "" "EFEMP2(NM_016938.5):c.339T>G (p.(Tyr113*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038603" "0" "50" "11" "65635441" "65635441" "subst" "2.84349E-5" "01804" "EFEMP2_000061" "g.65635441C>T" "" "" "" "EFEMP2(NM_016938.5):c.1061G>A (p.(Arg354Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038604" "0" "50" "11" "65636038" "65636038" "subst" "4.06441E-6" "01804" "EFEMP2_000062" "g.65636038G>A" "" "" "" "EFEMP2(NM_016938.5):c.790C>T (p.(Arg264Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038605" "0" "30" "11" "65638133" "65638133" "subst" "0.00171809" "02326" "EFEMP2_000018" "g.65638133C>T" "" "" "" "EFEMP2(NM_016938.4):c.368-4G>A (p.?), EFEMP2(NM_016938.5):c.368-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048330" "3" "90" "11" "65639714" "65639714" "subst" "0" "00006" "EFEMP2_000063" "g.65639714C>T" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3" "Germline" "" "" "0" "" "" "g.65872243C>T" "" "pathogenic" "" ## 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 EFEMP2 ## Count = 83 "{{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}}" "0000130166" "00006904" "90" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Glu161Lys)" "" "0000168858" "00006904" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "6" "0000250545" "00006904" "50" "494" "0" "494" "0" "c.494T>C" "r.(?)" "p.(Ile165Thr)" "" "0000267770" "00006904" "10" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Ile259Val)" "" "0000268762" "00006904" "30" "1170" "17" "1170" "17" "c.1170+17C>T" "r.(=)" "p.(=)" "" "0000268763" "00006904" "10" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Ser396=)" "" "0000268764" "00006904" "10" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(His92=)" "" "0000268765" "00006904" "30" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Gly93Ser)" "" "0000268766" "00006904" "30" "368" "-11" "368" "-11" "c.368-11G>A" "r.(=)" "p.(=)" "" "0000268767" "00006904" "30" "368" "-4" "368" "-4" "c.368-4G>A" "r.spl?" "p.?" "" "0000268768" "00006904" "30" "607" "19" "607" "19" "c.607+19A>G" "r.(=)" "p.(=)" "" "0000268769" "00006904" "10" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Ile259Val)" "" "0000268770" "00006904" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Ser295=)" "" "0000268771" "00006904" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Glu32=)" "" "0000271082" "00006904" "10" "490" "23" "490" "23" "c.490+23G>C" "r.(=)" "p.(=)" "" "0000275941" "00006904" "30" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(Thr349=)" "" "0000275942" "00006904" "50" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Ser355Arg)" "" "0000275943" "00006904" "30" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Ser396=)" "" "0000275944" "00006904" "10" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Asp46=)" "" "0000275945" "00006904" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Pro47Ser)" "" "0000275946" "00006904" "30" "160" "17" "160" "17" "c.160+17G>T" "r.(=)" "p.(=)" "" "0000275947" "00006904" "10" "161" "-10" "161" "-10" "c.161-10C>T" "r.(=)" "p.(=)" "" "0000275948" "00006904" "10" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(His92=)" "" "0000275949" "00006904" "30" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Gly93Ser)" "" "0000275950" "00006904" "10" "367" "90" "367" "90" "c.367+90del" "r.(=)" "p.(=)" "" "0000275951" "00006904" "30" "368" "-4" "368" "-4" "c.368-4G>A" "r.spl?" "p.?" "" "0000275952" "00006904" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Asp133Asn)" "" "0000275953" "00006904" "10" "490" "23" "490" "23" "c.490+23G>C" "r.(=)" "p.(=)" "" "0000275954" "00006904" "10" "491" "-28" "491" "-22" "c.491-28_491-22del" "r.(=)" "p.(=)" "" "0000275955" "00006904" "50" "505" "0" "505" "0" "c.505C>A" "r.(?)" "p.(Arg169Ser)" "" "0000275956" "00006904" "10" "608" "-38" "608" "-36" "c.608-38_608-36del" "r.(=)" "p.(=)" "" "0000275957" "00006904" "10" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Ile259Val)" "" "0000275959" "00006904" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Ser295=)" "" "0000275960" "00006904" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308His)" "" "0000322313" "00006904" "30" "368" "-4" "368" "-4" "c.368-4G>A" "r.spl?" "p.?" "" "0000338582" "00006904" "10" "-58" "0" "-58" "0" "c.-58G>A" "r.(?)" "p.(=)" "" "0000340365" "00006904" "10" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(His92=)" "" "0000342057" "00006904" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000346657" "00006904" "10" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Ile259Val)" "" "0000545022" "00006904" "30" "1095" "0" "1095" "0" "c.1095G>A" "r.(?)" "p.(Ala365=)" "" "0000545023" "00006904" "50" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Ser355Arg)" "" "0000545024" "00006904" "30" "975" "-15" "975" "-15" "c.975-15C>T" "r.(=)" "p.(=)" "" "0000545025" "00006904" "30" "975" "-15" "975" "-15" "c.975-15C>T" "r.(=)" "p.(=)" "" "0000545026" "00006904" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Asn313=)" "" "0000545027" "00006904" "30" "792" "0" "792" "0" "c.792T>C" "r.(?)" "p.(Arg264=)" "" "0000545029" "00006904" "10" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Gly93Ser)" "" "0000545030" "00006904" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Pro47Ser)" "" "0000545031" "00006904" "30" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Leu12=)" "" "0000545032" "00006904" "30" "27" "0" "27" "0" "c.27C>G" "r.(?)" "p.(Pro9=)" "" "0000545033" "00006904" "30" "27" "0" "27" "0" "c.27C>G" "r.(?)" "p.(Pro9=)" "" "0000613562" "00006904" "30" "1614" "0" "1614" "0" "c.*282C>T" "r.(=)" "p.(=)" "" "0000613563" "00006904" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Asn313=)" "" "0000613564" "00006904" "50" "937" "0" "939" "0" "c.937_939delinsGAT" "r.(?)" "p.(Asn313Asp)" "" "0000613565" "00006904" "50" "937" "0" "937" "0" "c.937A>G" "r.(?)" "p.(Asn313Asp)" "" "0000613566" "00006904" "30" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308His)" "" "0000613567" "00006904" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Ser295=)" "" "0000613568" "00006904" "30" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ala291Val)" "" "0000613569" "00006904" "10" "848" "-19" "848" "-19" "c.848-19C>T" "r.(=)" "p.(=)" "" "0000613570" "00006904" "30" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Pro97Leu)" "" "0000613571" "00006904" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Lys70Arg)" "" "0000613572" "00006904" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Pro47Ser)" "" "0000613573" "00006904" "30" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(Pro33=)" "" "0000622680" "00006904" "30" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Cys258=)" "" "0000656856" "00006904" "50" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Ser355Arg)" "" "0000656857" "00006904" "50" "934" "0" "934" "0" "c.934A>G" "r.(?)" "p.(Thr312Ala)" "" "0000656858" "00006904" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Cys188=)" "" "0000656859" "00006904" "50" "562" "0" "562" "0" "c.562T>G" "r.(?)" "p.(Cys188Gly)" "" "0000656860" "00006904" "50" "14" "0" "14" "0" "c.14C>A" "r.(?)" "p.(Ala5Asp)" "" "0000723589" "00006904" "30" "570" "0" "570" "0" "c.570G>A" "r.(?)" "p.(Pro190=)" "" "0000723590" "00006904" "30" "367" "187" "367" "187" "c.367+187G>A" "r.(=)" "p.(=)" "" "0000723591" "00006904" "30" "111" "102" "111" "102" "c.111+102G>A" "r.(=)" "p.(=)" "" "0000729924" "00006904" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000853090" "00006904" "30" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Ser396=)" "" "0000853091" "00006904" "30" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Ala103Thr)" "" "0000862635" "00006904" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Arg)" "" "0000890080" "00006904" "30" "368" "-11" "368" "-11" "c.368-11G>A" "r.(=)" "p.(=)" "" "0000925475" "00006904" "30" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Arg326His)" "" "0000946001" "00006904" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000979755" "00006904" "50" "339" "0" "339" "0" "c.339T>G" "r.(?)" "p.(Tyr113*)" "" "0001038603" "00006904" "50" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Arg354Gln)" "" "0001038604" "00006904" "50" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "" "0001038605" "00006904" "30" "368" "-4" "368" "-4" "c.368-4G>A" "r.spl?" "p.?" "" "0001048330" "00006904" "90" "111" "1" "111" "1" "c.111+1G>A" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000081080" "0000130166" "0000104201" "0000168858" "0000332642" "0000729924" "0000444144" "0000946001" "0000468496" "0001048330"