### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RANGRF) # 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}}" "RANGRF" "RAN guanine nucleotide release factor" "17" "p13" "unknown" "NG_028189.1" "UD_132118289207" "" "http://www.LOVD.nl/RANGRF" "" "1" "17679" "29098" "607954" "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/RANGRF_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-19 19:17:39" "00000" "2024-08-28 13:16:32" ## 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}}" "00017413" "RANGRF" "transcript variant 1" "003" "NM_016492.4" "" "NP_057576.2" "" "" "" "-138" "716" "561" "8191969" "8193409" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00065130" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y02m" "0" "" "" "Europe" "SIDS051" "00065151" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y08m" "0" "" "" "Europe" "SIDS172" "00065157" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y07m" "0" "" "" "Europe" "SIDS238" "00143768" "" "" "" "1" "" "02335" "" "" "M" "" "" "" "0" "" "" "" "" "00288323" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00065130" "02087" "00065151" "02087" "00065157" "02087" "00143768" "04170" "00288323" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02087, 04170 ## Count = 5 "{{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}}" "0000051235" "02087" "00065130" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000051256" "02087" "00065151" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000051262" "02087" "00065157" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000116538" "04170" "00143768" "02335" "Familial, autosomal dominant" "49y" "suspected Brugada syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000222027" "00198" "00288323" "01807" "Unknown" "" "Arrhythmia (HP:0011675)" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000065281" "00065130" "1" "01602" "01602" "2016-05-19 13:37:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000065302" "00065151" "1" "01602" "01602" "2016-05-19 14:47:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000065308" "00065157" "1" "01602" "01602" "2016-05-19 14:59:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000144626" "00143768" "1" "02335" "02335" "2017-12-05 12:53:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000289492" "00288323" "1" "01807" "01807" "2020-02-19 14:22:10" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000144626" "CACNB2" "0000144626" "HCN4" "0000144626" "RANGRF" "0000144626" "SCN5A" ## 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 = 28 "{{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}}" "0000096952" "0" "50" "17" "8192377" "8192377" "subst" "0.00399597" "01602" "RANGRF_000001" "g.8192377G>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs140704891" "0" "" "" "g.8289059G>T" "" "VUS" "" "0000096978" "0" "70" "17" "8192377" "8192377" "subst" "0.00399597" "01602" "RANGRF_000001" "g.8192377G>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "association with disease phenotype not proven" "Germline" "?" "rs140704891" "0" "" "" "g.8289059G>T" "" "likely pathogenic" "" "0000096985" "0" "50" "17" "8192377" "8192377" "subst" "0.00399597" "01602" "RANGRF_000001" "g.8192377G>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "association with disease phenotype not proven" "Germline" "?" "rs140704891" "0" "" "" "g.8289059G>T" "" "VUS" "" "0000235434" "0" "50" "17" "8192377" "8192377" "subst" "0.00399597" "02335" "RANGRF_000001" "g.8192377G>T" "" "" "" "" "variant more frequent in patients than in controls, but also homozygous carriers reported in gnomAD, worldwide MAF of 0,4%. Probably modifying effect but not a primary genetic cause of Brugada syndrome." "Germline/De novo (untested)" "" "rs140704891" "0" "" "" "g.8289059G>T" "" "VUS" "" "0000247465" "0" "50" "17" "8192111" "8192111" "subst" "4.07874E-6" "02330" "RANGRF_000002" "g.8192111A>G" "" "" "" "RANGRF(NM_001177802.2):c.5A>G (p.E2G), RANGRF(NM_016492.5):c.5A>G (p.E2G), SLC25A35(NM_201520.3):c.*823T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8288793A>G" "" "VUS" "" "0000294656" "0" "50" "17" "8192117" "8192117" "subst" "4.07608E-6" "02330" "RANGRF_000003" "g.8192117C>G" "" "" "" "RANGRF(NM_001177802.2):c.11C>G (p.T4R), SLC25A35(NM_201520.3):c.*817G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8288799C>G" "" "VUS" "" "0000294657" "0" "10" "17" "8192377" "8192377" "subst" "0.00399597" "02330" "RANGRF_000001" "g.8192377G>T" "" "" "" "RANGRF(NM_001177802.2):c.181G>T (p.E61*), RANGRF(NM_016492.4):c.181G>T (p.(Glu61*)), SLC25A35(NM_201520.3):c.*557C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8289059G>T" "" "benign" "" "0000294658" "0" "30" "17" "8192133" "8192133" "subst" "0.000166869" "02330" "RANGRF_000004" "g.8192133G>C" "" "" "" "RANGRF(NM_001177802.2):c.27G>C (p.L9=), SLC25A35(NM_201520.3):c.*801C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8288815G>C" "" "likely benign" "" "0000294659" "0" "10" "17" "8192738" "8192738" "subst" "0" "02330" "RANGRF_000007" "g.8192738G>A" "" "" "" "RANGRF(NM_001177802.2):c.357G>A (p.R119=), SLC25A35(NM_201520.3):c.*196C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8289420G>A" "" "benign" "" "0000294660" "0" "10" "17" "8193203" "8193203" "subst" "0.00228207" "02330" "RANGRF_000009" "g.8193203G>A" "" "" "" "RANGRF(NM_016492.5):c.510G>A (p.Q170=), SLC25A35(NM_201520.3):c.829C>T (p.L277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8289885G>A" "" "benign" "" "0000294661" "0" "30" "17" "8192158" "8192158" "subst" "0.000581192" "02330" "RANGRF_000005" "g.8192158C>T" "" "" "" "RANGRF(NM_001177802.2):c.52C>T (p.L18F), SLC25A35(NM_201520.3):c.*776G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8288840C>T" "" "likely benign" "" "0000294662" "0" "10" "17" "8192277" "8192277" "subst" "0.00454623" "02330" "RANGRF_000006" "g.8192277C>T" "" "" "" "RANGRF(NM_001177802.2):c.81C>T (p.D27=), SLC25A35(NM_201520.3):c.*657G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8288959C>T" "" "benign" "" "0000295883" "0" "10" "17" "8192922" "8192922" "subst" "0.107124" "02330" "RANGRF_000008" "g.8192922C>T" "" "" "" "RANGRF(NM_001177802.2):c.*43C>T, RANGRF(NM_016492.5):c.437+16C>T, SLC25A35(NM_201520.3):c.*12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8289604C>T" "" "benign" "" "0000563829" "0" "30" "17" "8192188" "8192188" "subst" "0.00026015" "02330" "RANGRF_000010" "g.8192188G>A" "" "" "" "RANGRF(NM_001177802.2):c.77+5G>A, SLC25A35(NM_201520.3):c.*746C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8288870G>A" "" "likely benign" "" "0000563830" "0" "10" "17" "8192202" "8192202" "subst" "0.00145223" "02330" "RANGRF_000011" "g.8192202C>G" "" "" "" "RANGRF(NM_001177802.2):c.77+19C>G, SLC25A35(NM_201520.3):c.*732G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8288884C>G" "" "benign" "" "0000563831" "0" "10" "17" "8192377" "8192377" "subst" "0.00399597" "02325" "RANGRF_000001" "g.8192377G>T" "" "" "" "RANGRF(NM_001177802.2):c.181G>T (p.E61*), RANGRF(NM_016492.4):c.181G>T (p.(Glu61*)), SLC25A35(NM_201520.3):c.*557C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8289059G>T" "" "benign" "" "0000563832" "0" "10" "17" "8192403" "8192403" "subst" "0.000268052" "02330" "RANGRF_000012" "g.8192403C>T" "" "" "" "RANGRF(NM_001177802.2):c.194+13C>T, SLC25A35(NM_201520.3):c.*531G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8289085C>T" "" "benign" "" "0000616942" "0" "30" "17" "8192173" "8192173" "subst" "2.03179E-5" "02327" "RANGRF_000013" "g.8192173A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8288855A>G" "" "likely benign" "" "0000616943" "0" "10" "17" "8193203" "8193203" "subst" "0.00228207" "02327" "RANGRF_000009" "g.8193203G>A" "" "" "" "RANGRF(NM_016492.5):c.510G>A (p.Q170=), SLC25A35(NM_201520.3):c.829C>T (p.L277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8289885G>A" "" "benign" "" "0000645463" "3" "70" "17" "8192377" "8192377" "subst" "0.00399597" "01807" "RANGRF_000001" "g.8192377G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.8289059G>T" "" "VUS" "" "0000692542" "0" "10" "17" "8192382" "8192382" "subst" "4.09833E-6" "02330" "RANGRF_000014" "g.8192382G>T" "" "" "" "RANGRF(NM_001177802.2):c.186G>T (p.A62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692543" "0" "30" "17" "8192912" "8192912" "subst" "1.22138E-5" "02330" "RANGRF_000015" "g.8192912G>C" "" "" "" "RANGRF(NM_001177802.2):c.*33G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808366" "0" "50" "17" "8192156" "8192156" "subst" "8.53492E-5" "02330" "RANGRF_000016" "g.8192156T>A" "" "" "" "RANGRF(NM_001177802.2):c.50T>A (p.I17N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808367" "0" "30" "17" "8193258" "8193258" "subst" "2.03044E-5" "02330" "RANGRF_000017" "g.8193258C>T" "" "" "" "RANGRF(NM_001177802.2):c.*379C>T, SLC25A35(NM_201520.3):c.774G>A (p.A258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894380" "0" "50" "17" "8192355" "8192355" "subst" "0" "02330" "RANGRF_000018" "g.8192355G>A" "" "" "" "RANGRF(NM_001177802.2):c.159G>A (p.E53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915005" "0" "10" "17" "8192922" "8192922" "subst" "0.107124" "02325" "RANGRF_000008" "g.8192922C>T" "" "" "" "RANGRF(NM_001177802.2):c.*43C>T, RANGRF(NM_016492.5):c.437+16C>T, SLC25A35(NM_201520.3):c.*12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969297" "0" "50" "17" "8192111" "8192111" "subst" "4.07874E-6" "02325" "RANGRF_000002" "g.8192111A>G" "" "" "" "RANGRF(NM_001177802.2):c.5A>G (p.E2G), RANGRF(NM_016492.5):c.5A>G (p.E2G), SLC25A35(NM_201520.3):c.*823T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003886" "0" "30" "17" "8192377" "8192377" "subst" "0.00399597" "01804" "RANGRF_000001" "g.8192377G>T" "" "" "" "RANGRF(NM_001177802.2):c.181G>T (p.E61*), RANGRF(NM_016492.4):c.181G>T (p.(Glu61*)), SLC25A35(NM_201520.3):c.*557C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RANGRF ## Count = 28 "{{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}}" "0000096952" "00017413" "50" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Glu61*)" "2" "0000096978" "00017413" "70" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Glu61*)" "2" "0000096985" "00017413" "50" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Glu61*)" "2" "0000235434" "00017413" "50" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Glu61*)" "2" "0000247465" "00017413" "50" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Glu2Gly)" "" "0000294656" "00017413" "50" "11" "0" "11" "0" "c.11C>G" "r.(?)" "p.(Thr4Arg)" "" "0000294657" "00017413" "10" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Glu61Ter)" "" "0000294658" "00017413" "30" "27" "0" "27" "0" "c.27G>C" "r.(?)" "p.(Leu9=)" "" "0000294659" "00017413" "10" "351" "6" "351" "6" "c.351+6G>A" "r.(=)" "p.(=)" "" "0000294660" "00017413" "10" "510" "0" "510" "0" "c.510G>A" "r.(?)" "p.(Gln170=)" "" "0000294661" "00017413" "30" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Leu18Phe)" "" "0000294662" "00017413" "10" "81" "0" "81" "0" "c.81C>T" "r.(?)" "p.(Asp27=)" "" "0000295883" "00017413" "10" "437" "16" "437" "16" "c.437+16C>T" "r.(=)" "p.(=)" "" "0000563829" "00017413" "30" "77" "5" "77" "5" "c.77+5G>A" "r.spl?" "p.?" "" "0000563830" "00017413" "10" "77" "19" "77" "19" "c.77+19C>G" "r.(=)" "p.(=)" "" "0000563831" "00017413" "10" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Glu61Ter)" "" "0000563832" "00017413" "10" "194" "13" "194" "13" "c.194+13C>T" "r.(=)" "p.(=)" "" "0000616942" "00017413" "30" "67" "0" "67" "0" "c.67A>G" "r.(?)" "p.(Ile23Val)" "" "0000616943" "00017413" "10" "510" "0" "510" "0" "c.510G>A" "r.(?)" "p.(Gln170=)" "" "0000645463" "00017413" "70" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Glu61*)" "" "0000692542" "00017413" "10" "186" "0" "186" "0" "c.186G>T" "r.(?)" "p.(Ala62=)" "" "0000692543" "00017413" "30" "437" "6" "437" "6" "c.437+6G>C" "r.(=)" "p.(=)" "" "0000808366" "00017413" "50" "50" "0" "50" "0" "c.50T>A" "r.(?)" "p.(Ile17Asn)" "" "0000808367" "00017413" "30" "565" "0" "565" "0" "c.*4C>T" "r.(=)" "p.(=)" "" "0000894380" "00017413" "50" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Glu53=)" "" "0000915005" "00017413" "10" "437" "16" "437" "16" "c.437+16C>T" "r.(=)" "p.(=)" "" "0000969297" "00017413" "50" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Glu2Gly)" "" "0001003886" "00017413" "30" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Glu61Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000065281" "0000096952" "0000065302" "0000096978" "0000065308" "0000096985" "0000144626" "0000235434" "0000289492" "0000645463"