### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLUAP1) # 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}}" "CLUAP1" "clusterin associated protein 1" "16" "p13.3" "unknown" "NG_047131.1" "UD_136086286139" "" "https://www.LOVD.nl/CLUAP1" "" "1" "19009" "23059" "616787" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CLUAP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-01-28 13:21:43" "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}}" "00025594" "CLUAP1" "transcript variant 1" "001" "NM_015041.2" "" "NP_055856.1" "" "" "" "-123" "4019" "1242" "3550945" "3589048" "00006" "2021-01-28 13:22:55" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00386928" "" "" "" "1" "" "00006" "{PMID:Mauro-Herrera 2021:34209753}" "" "" "" "United States" "" "0" "" "" "" "Pat5" "00405903" "" "" "" "1" "" "00000" "{PMID:Soens 2016:26820066}" "" "" "" "" "" "0" "" "" "Saudi Arabian" "" "00405904" "" "" "" "1" "" "00000" "{PMID:Johnston 2017:28679688}" "" "" "" "(United States)" "" "0" "" "" "" "" "00405905" "" "" "" "1" "" "00000" "{PMID:Johnston 2017:28679688}" "" "" "" "(United States)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00386928" "04214" "00405903" "04214" "00405904" "04214" "00405905" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04214 ## Count = 4 "{{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}}" "0000280727" "04214" "00386928" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "0000298400" "04214" "00405903" "00000" "Familial, autosomal recessive" "5y" "severe visual function limited to light perception by 6 weeks of age, accompanied by nystagmus, the oculodigital sign, and an extinguished electroretinogram" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "0000298401" "04214" "00405904" "00000" "Familial, autosomal recessive" "" "Pallister–Hall syndrome; midline notched upper lip, alveolar ridge overgrowth, high palate, extra frenula, a malformed epiglottis with a midline cleft, and a notched tongue tip; His limb findings were remarkable for mild rhizomelic shortening, bilateral postaxial polydactyly with partial cutaneous syndactyly of fingers 4-5, bilateral preaxial polydactyly with partial cutaneous syndactyly of toes 2-3, broadened metatarsals, short fingers and toes, and small nails" "3d" "" "sparse scalp hair and eyebrows, underdeveloped supraorbital ridges, apparently widely spaced eyes with epicanthal folds, a wide and mildly depressed nasal bridge, a broad nasal tip, and retrognathia" "" "" "" "" "" "Joubert and oral–facial–digital overlap syndrome" "0000298402" "04214" "00405905" "00000" "Familial, autosomal recessive" "" "Pallister–Hall syndrome; midline notched upper lip, alveolar ridge overgrowth, high palate, extra frenula, a malformed epiglottis with a midline cleft, and a notched tongue tip; His limb findings were remarkable for mild rhizomelic shortening, bilateral postaxial polydactyly with partial cutaneous syndactyly of fingers 4–5, bilateral preaxial polydactyly with partial cutaneous syndactyly of toes 2–3, broadened metatarsals, short fingers and toes, and small nails" "3d" "" "sparse scalp hair and eyebrows, underdeveloped supraorbital ridges, apparently widely spaced eyes with epicanthal folds, a wide and mildly depressed nasal bridge, a broad nasal tip, and retrognathia" "" "" "" "" "" "Joubert and oral–facial–digital overlap syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000388156" "00386928" "1" "00006" "00006" "2021-10-26 20:31:33" "" "" "SEQ" "DNA" "" "" "0000407144" "00405903" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ-NG;SEQ" "DNA" "blood" "WES" "0000407145" "00405904" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ-NG;SEQ;Western" "DNA" "blood" "" "0000407146" "00405905" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ-NG;SEQ;Western" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000388156" "CLUAP1" "0000407144" "CLUAP1" "0000407145" "CLUAP1" "0000407146" "CLUAP1" ## 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 = 33 "{{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}}" "0000273635" "0" "30" "16" "3558279" "3558279" "subst" "0" "01943" "CLUAP1_000001" "g.3558279C>T" "" "" "" "CLUAP1(NM_001330454.1):c.220-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3508279C>T" "" "likely benign" "" "0000308550" "0" "30" "16" "3632349" "3632349" "subst" "4.10145E-6" "01943" "SLX4_000111" "g.3632349C>T" "" "" "" "SLX4(NM_032444.2):c.5499G>A (p.R1833=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3582348C>T" "" "likely benign" "" "0000324519" "0" "50" "16" "3586188" "3586188" "subst" "2.84248E-5" "01804" "CLUAP1_000002" "g.3586188G>A" "" "" "" "CLUAP1(NM_015041.2):c.1159G>A (p.(Glu387Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3536188G>A" "" "VUS" "" "0000324520" "0" "30" "16" "3632347" "3632347" "subst" "0.00556057" "01804" "SLX4_000029" "g.3632347T>C" "" "" "" "SLX4(NM_032444.2):c.5501A>G (p.N1834S, p.(Asn1834Ser)), SLX4(NM_032444.4):c.5501A>G (p.N1834S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3582346T>C" "" "likely benign" "" "0000342826" "0" "10" "16" "3586230" "3586230" "subst" "0.206477" "02327" "CLUAP1_000004" "g.3586230C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3536230C>T" "" "benign" "" "0000350749" "0" "50" "16" "3586120" "3586120" "subst" "4.06716E-6" "02327" "CLUAP1_000003" "g.3586120A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3536120A>G" "" "VUS" "" "0000558087" "0" "10" "16" "3569909" "3569909" "subst" "0.00315711" "01943" "CLUAP1_000005" "g.3569909G>T" "" "" "" "CLUAP1(NM_001330454.1):c.586G>T (p.V196F), CLUAP1(NM_015041.3):c.586G>T (p.V196F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3519909G>T" "" "benign" "" "0000558088" "0" "30" "16" "3632347" "3632347" "subst" "0.00556057" "01943" "SLX4_000029" "g.3632347T>C" "" "" "" "SLX4(NM_032444.2):c.5501A>G (p.N1834S, p.(Asn1834Ser)), SLX4(NM_032444.4):c.5501A>G (p.N1834S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3582346T>C" "" "likely benign" "" "0000558089" "0" "30" "16" "3632391" "3632391" "subst" "4.0785E-6" "01943" "CLUAP1_000006" "g.3632391C>T" "" "" "" "SLX4(NM_032444.2):c.5457G>A (p.Q1819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3582390C>T" "" "likely benign" "" "0000615965" "0" "50" "16" "3580633" "3580633" "subst" "6.12065E-5" "01943" "CLUAP1_000008" "g.3580633C>T" "" "" "" "CLUAP1(NM_015041.2):c.994C>T (p.R332W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3530633C>T" "" "VUS" "" "0000615966" "0" "30" "16" "3594282" "3594282" "subst" "0.000186841" "01943" "CLUAP1_000009" "g.3594282C>T" "" "" "" "NLRC3(NM_178844.3):c.2819G>A (p.R940H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3544282C>T" "" "likely benign" "" "0000623453" "0" "50" "16" "3556354" "3556354" "subst" "1.62429E-5" "01943" "CLUAP1_000007" "g.3556354C>T" "" "" "" "CLUAP1(NM_015041.2):c.158C>T (p.P53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3506354C>T" "" "VUS" "" "0000680561" "0" "30" "16" "3556323" "3556323" "subst" "0" "01943" "CLUAP1_000010" "g.3556323C>T" "" "" "" "CLUAP1(NM_001330454.1):c.135-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680562" "0" "30" "16" "3580683" "3580683" "subst" "5.31093E-5" "01943" "CLUAP1_000011" "g.3580683G>A" "" "" "" "CLUAP1(NM_001330454.1):c.1036+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692064" "0" "30" "16" "3580593" "3580593" "subst" "0.000130123" "01943" "CLUAP1_000012" "g.3580593C>T" "" "" "" "CLUAP1(NM_001330454.1):c.954C>T (p.I318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725766" "0" "30" "16" "3569983" "3569983" "subst" "0" "01943" "NLRC3_000001" "g.3569983A>G" "" "" "" "CLUAP1(NM_015041.2):c.660A>G (p.R220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725767" "0" "50" "16" "3613673" "3613673" "subst" "5.69337E-5" "01943" "NLRC3_000002" "g.3613673G>A" "" "" "" "NLRC3(NM_178844.3):c.1265C>T (p.A422V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807380" "0" "30" "16" "3580682" "3580682" "subst" "2.45082E-5" "01943" "NLRC3_000003" "g.3580682C>T" "" "" "" "CLUAP1(NM_001330454.1):c.1036+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816588" "1" "70" "16" "3580569" "3580569" "subst" "4.0699E-6" "00006" "CLUAP1_000013" "g.3580569T>A" "" "{PMID:Mauro-Herrera 2021:34209753}" "" "" "minigene splicing assay shows effect on splicing" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000816589" "2" "70" "16" "3580426" "3580426" "subst" "0" "00006" "CLUAP1_000014" "g.3580426G>A" "" "{PMID:Mauro-Herrera 2021:34209753}" "" "" "minigene splicing assay shows reduced amount of RNA" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000843644" "3" "70" "16" "3573261" "3573261" "subst" "8.14617E-6" "00000" "CLUAP1_000017" "g.3573261C>T" "" "{PMID:Soens 2016:26820066}" "" "c.817C>T; p.L273F" "Hypomorphic variant" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843645" "21" "90" "16" "3558407" "3558407" "subst" "1.31785E-5" "00000" "CLUAP1_000015" "g.3558407T>G" "" "{PMID:Johnston 2017:28679688}" "" "c.338T>G, p.(Met113Arg)" "" "Germline" "" "rs768663992" "0" "" "" "" "" "pathogenic" "" "0000843646" "11" "90" "16" "3570011" "3570011" "subst" "4.08781E-6" "00000" "CLUAP1_000016" "g.3570011C>T" "" "{PMID:Johnston 2017:28679688}" "" "c.688C>T, p.(Arg230Ter)" "" "Germline" "" "rs769705065" "0" "" "" "" "" "pathogenic" "" "0000854495" "0" "10" "16" "3551107" "3551107" "subst" "0.00109864" "02330" "NLRC3_000004" "g.3551107C>G" "" "" "" "CLUAP1(NM_015041.3):c.22+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854496" "0" "10" "16" "3582814" "3582814" "subst" "0.00116543" "02330" "NLRC3_000007" "g.3582814G>A" "" "" "" "CLUAP1(NM_015041.3):c.1065G>A (p.T355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864777" "0" "30" "16" "3562380" "3562380" "subst" "0.00178276" "02330" "NLRC3_000005" "g.3562380C>T" "" "" "" "CLUAP1(NM_001330454.2):c.400-3C>T, CLUAP1(NM_015041.3):c.400-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864778" "0" "30" "16" "3573221" "3573221" "subst" "4.06398E-6" "02330" "NLRC3_000006" "g.3573221T>C" "" "" "" "CLUAP1(NM_015041.3):c.777T>C (p.Y259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864779" "0" "30" "16" "3586210" "3586210" "subst" "8.12143E-6" "01943" "NLRC3_000008" "g.3586210C>T" "" "" "" "CLUAP1(NM_015041.2):c.1181C>T (p.T394I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892958" "0" "30" "16" "3562415" "3562415" "subst" "0.000414193" "02330" "NLRC3_000009" "g.3562415G>A" "" "" "" "CLUAP1(NM_015041.3):c.432G>A (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892959" "0" "30" "16" "3569909" "3569909" "subst" "0.00315711" "02330" "CLUAP1_000005" "g.3569909G>T" "" "" "" "CLUAP1(NM_001330454.1):c.586G>T (p.V196F), CLUAP1(NM_015041.3):c.586G>T (p.V196F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950654" "0" "30" "16" "3580590" "3580590" "subst" "1.21987E-5" "02330" "NLRC3_000010" "g.3580590C>T" "" "" "" "CLUAP1(NM_001330454.2):c.951C>T (p.D317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968348" "0" "30" "16" "3580692" "3580692" "subst" "4.93299E-5" "02330" "NLRC3_000011" "g.3580692C>T" "" "" "" "CLUAP1(NM_001330454.2):c.1036+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041094" "0" "30" "16" "3632347" "3632347" "subst" "0.00556057" "02329" "SLX4_000029" "g.3632347T>C" "" "" "" "SLX4(NM_032444.2):c.5501A>G (p.N1834S, p.(Asn1834Ser)), SLX4(NM_032444.4):c.5501A>G (p.N1834S)" "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 CLUAP1 ## Count = 33 "{{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}}" "0000273635" "00025594" "30" "220" "-10" "220" "-10" "c.220-10C>T" "r.(=)" "p.(=)" "" "0000308550" "00025594" "30" "47320" "0" "47320" "0" "c.*46078C>T" "r.(=)" "p.(=)" "" "0000324519" "00025594" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" "0000324520" "00025594" "30" "47318" "0" "47318" "0" "c.*46076T>C" "r.(=)" "p.(=)" "" "0000342826" "00025594" "10" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401Trp)" "" "0000350749" "00025594" "50" "1093" "-2" "1093" "-2" "c.1093-2A>G" "r.spl?" "p.?" "" "0000558087" "00025594" "10" "586" "0" "586" "0" "c.586G>T" "r.(?)" "p.(Val196Phe)" "" "0000558088" "00025594" "30" "47318" "0" "47318" "0" "c.*46076T>C" "r.(=)" "p.(=)" "" "0000558089" "00025594" "30" "47362" "0" "47362" "0" "c.*46120C>T" "r.(=)" "p.(=)" "" "0000615965" "00025594" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0000615966" "00025594" "30" "9253" "0" "9253" "0" "c.*8011C>T" "r.(=)" "p.(=)" "" "0000623453" "00025594" "50" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Pro53Leu)" "" "0000680561" "00025594" "30" "135" "-8" "135" "-8" "c.135-8C>T" "r.(=)" "p.(=)" "" "0000680562" "00025594" "30" "1036" "8" "1036" "8" "c.1036+8G>A" "r.(=)" "p.(=)" "" "0000692064" "00025594" "30" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Ile318=)" "" "0000725766" "00025594" "30" "660" "0" "660" "0" "c.660A>G" "r.(?)" "p.(Arg220=)" "" "0000725767" "00025594" "50" "28644" "0" "28644" "0" "c.*27402G>A" "r.(=)" "p.(=)" "" "0000807380" "00025594" "30" "1036" "7" "1036" "7" "c.1036+7C>T" "r.(=)" "p.(=)" "" "0000816588" "00025594" "70" "930" "0" "930" "0" "c.930T>A" "r.[(928_929ins929-101_929-1;930u>a)]" "p.?)" "" "0000816589" "00025594" "70" "929" "-142" "929" "-142" "c.929-142G>A" "r.?" "p.?" "" "0000843644" "00025594" "70" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Leu273Phe)" "8" "0000843645" "00025594" "90" "338" "0" "338" "0" "c.338T>G" "r.(?)" "p.(Met113Arg)" "4" "0000843646" "00025594" "90" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230*)" "7" "0000854495" "00025594" "10" "22" "18" "22" "18" "c.22+18C>G" "r.(=)" "p.(=)" "" "0000854496" "00025594" "10" "1065" "0" "1065" "0" "c.1065G>A" "r.(?)" "p.(Thr355=)" "" "0000864777" "00025594" "30" "400" "-3" "400" "-3" "c.400-3C>T" "r.spl?" "p.?" "" "0000864778" "00025594" "30" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(Tyr259=)" "" "0000864779" "00025594" "30" "1181" "0" "1181" "0" "c.1181C>T" "r.(?)" "p.(Thr394Ile)" "" "0000892958" "00025594" "30" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Ala144=)" "" "0000892959" "00025594" "30" "586" "0" "586" "0" "c.586G>T" "r.(?)" "p.(Val196Phe)" "" "0000950654" "00025594" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(=)" "" "0000968348" "00025594" "30" "1036" "17" "1036" "17" "c.1036+17C>T" "r.(=)" "p.(=)" "" "0001041094" "00025594" "30" "47318" "0" "47318" "0" "c.*46076T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000388156" "0000816588" "0000388156" "0000816589" "0000407144" "0000843644" "0000407145" "0000843645" "0000407146" "0000843646"