### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AICDA) # 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}}" "AICDA" "activation-induced cytidine deaminase" "12" "p13" "unknown" "LRG_17" "UD_132118994342" "" "http://www.LOVD.nl/AICDA" "" "1" "13203" "57379" "605257" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/AICDA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-07-27 14:49:28" "00000" "2024-04-19 20:27:30" ## 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}}" "00002271" "AICDA" "activation-induced cytidine deaminase" "001" "NM_020661.2" "" "NP_065712.1" "" "" "" "-79" "2715" "597" "8765442" "8754762" "" "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" "02536" "HIGM2" "immunodeficiency, with hyper IgM, type 2 (HIGM-2)" "AR" "605258" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AICDA" "02536" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00046593" "" "" "" "1" "" "01363" "" "" "M" "no" "Tunisia" "" "0" "" "" "" "" "00046594" "" "" "" "5" "" "01363" "" "" "" "no" "Tunisia" "" "0" "" "" "" "" "00046595" "" "" "" "5" "" "01363" "" "" "" "" "Tunisia" "" "0" "" "" "" "" "00058568" "" "" "" "1" "" "01524" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "" "F" "no" "Finland" "" "0" "" "" "" "" "00058569" "" "" "" "1" "" "01524" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "" "M" "no" "Finland" "" "0" "" "" "" "" "00058570" "" "" "" "1" "" "01524" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "" "F" "no" "Finland" "" "0" "" "" "" "" "00058572" "" "" "" "1" "" "01524" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "" "F" "no" "Finland" "" "0" "" "" "" "" "00058573" "" "" "" "1" "" "01524" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "" "M" "no" "Finland" "" "0" "" "" "" "" "00058574" "" "" "" "1" "" "01524" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "" "F" "no" "Finland" "" "0" "" "" "" "" "00058575" "" "" "" "1" "" "01524" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "" "M" "no" "Finland" "" "0" "" "" "" "" "00290805" "" "" "" "170" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304382" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00433038" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat5,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00046593" "02536" "00046594" "02536" "00046595" "02536" "00058568" "02536" "00058569" "02536" "00058570" "02536" "00058572" "02536" "00058573" "02536" "00058574" "02536" "00058575" "02536" "00290805" "00198" "00304382" "00198" "00433038" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02536, 05292 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000045163" "02536" "00058568" "01524" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045164" "02536" "00058569" "01524" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045165" "02536" "00058570" "01524" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045166" "02536" "00058572" "01524" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045167" "02536" "00058573" "01524" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045168" "02536" "00058574" "01524" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045169" "02536" "00058575" "01524" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323564" "05292" "00433038" "00006" "Familial, autosomal recessive" "7y" "antibody deficiency including hyper IgM syndrome" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000046702" "00046593" "1" "01363" "01363" "2015-07-20 16:30:42" "" "" "PCR;SEQ" "DNA" "" "" "0000046703" "00046594" "1" "01363" "01363" "2015-07-20 16:50:28" "" "" "PCR;SEQ" "DNA" "" "" "0000046704" "00046595" "1" "01363" "01363" "2015-07-20 17:14:00" "" "" "PCR;SEQ" "DNA" "" "" "0000058532" "00058568" "1" "01524" "01524" "2016-02-01 09:38:39" "00006" "2016-02-01 23:35:05" "PCRdig;SEQ" "DNA" "PBMC" "" "0000058533" "00058569" "1" "01524" "01524" "2016-02-01 10:18:10" "" "" "SEQ-NG-I" "DNA" "PBMC" "" "0000058534" "00058570" "1" "01524" "01524" "2016-02-01 10:26:12" "" "" "SEQ-NG-I" "DNA" "PBMC" "" "0000058535" "00058572" "1" "01524" "01524" "2016-02-01 10:31:53" "00006" "2016-02-01 23:35:05" "PCRdig;SEQ" "DNA" "PBMC" "" "0000058536" "00058573" "1" "01524" "01524" "2016-02-01 10:35:54" "00006" "2016-02-01 23:35:05" "PCRdig;SEQ" "DNA" "PBMC" "" "0000058537" "00058574" "1" "01524" "01524" "2016-02-01 10:54:16" "00006" "2016-02-01 23:35:05" "PCRdig;SEQ" "DNA" "PBMC" "" "0000058538" "00058575" "1" "01524" "01524" "2016-02-01 10:57:40" "00006" "2016-02-01 23:35:05" "PCRdig;SEQ" "DNA" "PBMC" "" "0000291973" "00290805" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305511" "00304382" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000434469" "00433038" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000046702" "AICDA" "0000046703" "AICDA" "0000046704" "AICDA" "0000058532" "AICDA" "0000058533" "AICDA" "0000058534" "AICDA" "0000058535" "AICDA" "0000058536" "AICDA" "0000058537" "AICDA" "0000058538" "AICDA" ## 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 = 26 "{{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}}" "0000074839" "3" "70" "12" "8759526" "8759526" "subst" "0" "01363" "AICDA_000002" "g.8759526A>G" "" "" "" "g.5834T>C" "" "Germline" "" "" "0" "" "" "g.8606930A>G" "" "likely pathogenic" "" "0000074840" "3" "70" "12" "8757849" "8757849" "subst" "0" "01363" "AICDA_000003" "g.8757849T>G" "" "" "" "g.7515A>C" "" "Germline" "" "" "0" "" "" "g.8605253T>G" "" "likely pathogenic" "" "0000074841" "3" "90" "12" "8759460" "8759460" "subst" "0" "01363" "AICDA_000001" "g.8759460C>A" "" "" "" "5904G>T" "" "Germline" "" "" "0" "" "" "g.8606864C>A" "" "pathogenic" "" "0000089118" "3" "70" "12" "8757822" "8757822" "subst" "0.000167858" "01524" "AICDA_000004" "g.8757822A>G" "" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "BspHI-" "" "on founder haplotype" "Germline" "yes" "rs200858797" "0" "" "" "g.8605226A>G" "" "likely pathogenic" "" "0000089119" "3" "70" "12" "8757822" "8757822" "subst" "0.000167858" "01524" "AICDA_000004" "g.8757822A>G" "" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "BspHI-" "" "on founder haplotype" "Germline" "yes" "rs200858797" "0" "" "" "g.8605226A>G" "" "likely pathogenic" "" "0000089120" "3" "70" "12" "8757822" "8757822" "subst" "0.000167858" "01524" "AICDA_000004" "g.8757822A>G" "" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "BspHI-" "" "on founder haplotype" "Germline" "yes" "rs200858797" "0" "" "" "g.8605226A>G" "" "likely pathogenic" "" "0000089121" "3" "70" "12" "8757822" "8757822" "subst" "0.000167858" "01524" "AICDA_000004" "g.8757822A>G" "" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "BspHI-" "" "on founder haplotype" "Germline" "yes" "rs200858797" "0" "" "" "g.8605226A>G" "" "likely pathogenic" "" "0000089122" "3" "70" "12" "8757822" "8757822" "subst" "0.000167858" "01524" "AICDA_000004" "g.8757822A>G" "" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "BspHI-" "" "on founder haplotype" "Germline" "yes" "rs200858797" "0" "" "" "g.8605226A>G" "" "likely pathogenic" "" "0000089123" "3" "70" "12" "8757822" "8757822" "subst" "0.000167858" "01524" "AICDA_000004" "g.8757822A>G" "" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "BspHI-" "" "on founder haplotype" "Germline" "yes" "rs200858797" "0" "" "" "g.8605226A>G" "" "likely pathogenic" "" "0000089124" "3" "70" "12" "8757822" "8757822" "subst" "0.000167858" "01524" "AICDA_000004" "g.8757822A>G" "" "Trotta 2016, submitted to EJHG (845-15-EJHGR)" "BspHI-" "" "on founder haplotype" "Germline" "yes" "rs200858797" "0" "" "" "g.8605226A>G" "" "likely pathogenic" "" "0000259003" "0" "10" "12" "8759445" "8759445" "subst" "0.525564" "02325" "AICDA_000007" "g.8759445C>T" "" "" "" "AICDA(NM_020661.2):c.156+16G>A, AICDA(NM_020661.4):c.156+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8606849C>T" "" "benign" "" "0000260688" "0" "10" "12" "8759445" "8759445" "subst" "0.525564" "02326" "AICDA_000007" "g.8759445C>T" "" "" "" "AICDA(NM_020661.2):c.156+16G>A, AICDA(NM_020661.4):c.156+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8606849C>T" "" "benign" "" "0000549292" "0" "30" "12" "8757442" "8757442" "subst" "0" "01943" "AICDA_000008" "g.8757442A>G" "" "" "" "AICDA(NM_020661.2):c.504T>C (p.N168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8604846A>G" "" "likely benign" "" "0000549293" "0" "10" "12" "8757481" "8757481" "subst" "0.5966" "02325" "AICDA_000009" "g.8757481G>A" "" "" "" "AICDA(NM_020661.2):c.465C>T (p.H155=), AICDA(NM_020661.4):c.465C>T (p.H155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8604885G>A" "" "benign" "" "0000549294" "0" "10" "12" "8757481" "8757481" "subst" "0.5966" "02326" "AICDA_000009" "g.8757481G>A" "" "" "" "AICDA(NM_020661.2):c.465C>T (p.H155=), AICDA(NM_020661.4):c.465C>T (p.H155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8604885G>A" "" "benign" "" "0000549295" "0" "50" "12" "8757838" "8757838" "subst" "4.09987E-6" "01943" "AICDA_000010" "g.8757838C>T" "" "" "" "AICDA(NM_020661.2):c.400G>A (p.V134M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8605242C>T" "" "VUS" "" "0000549296" "0" "50" "12" "8759503" "8759503" "subst" "0" "01943" "AICDA_000011" "g.8759503A>C" "" "" "" "AICDA(NM_020661.2):c.114T>G (p.S38R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8606907A>C" "" "VUS" "" "0000648662" "1" "10" "12" "8755852" "8755852" "subst" "0" "03575" "AICDA_000012" "g.8755852G>A" "170/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "170 heterozygous; {DB:CLININrs7304723}" "Germline" "" "rs7304723" "0" "" "" "g.8603256G>A" "" "benign" "" "0000669199" "3" "10" "12" "8755852" "8755852" "subst" "0" "03575" "AICDA_000012" "g.8755852G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs7304723}" "Germline" "" "rs7304723" "0" "" "" "g.8603256G>A" "" "benign" "" "0000724265" "0" "10" "12" "8757535" "8757535" "dup" "0" "02325" "AICDA_000006" "g.8757535dup" "" "" "" "AICDA(NM_020661.2):c.428-5dupT, AICDA(NM_020661.4):c.428-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805962" "0" "50" "12" "8757942" "8757942" "subst" "0" "01943" "AICDA_000013" "g.8757942C>T" "" "" "" "AICDA(NM_020661.2):c.296G>A (p.R99Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890809" "0" "30" "12" "8757429" "8757429" "subst" "8.12896E-6" "02326" "AICDA_000014" "g.8757429A>C" "" "" "" "AICDA(NM_020661.2):c.517T>G (p.S173A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920229" "3" "70" "12" "8759546" "8759546" "subst" "8.12301E-6" "00006" "AICDA_000015" "g.8759546C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.8606950C>T" "" "likely pathogenic" "ACMG" "0000930153" "0" "10" "12" "8757535" "8757535" "dup" "0" "02326" "AICDA_000006" "g.8757535dup" "" "" "" "AICDA(NM_020661.2):c.428-5dupT, AICDA(NM_020661.4):c.428-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930154" "0" "70" "12" "8759519" "8759519" "subst" "0" "02327" "AICDA_000016" "g.8759519A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950035" "0" "30" "12" "8759569" "8759569" "subst" "0.0011497" "02326" "AICDA_000017" "g.8759569T>C" "" "" "" "AICDA(NM_020661.2):c.48A>G (p.K16=)" "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 AICDA ## Count = 26 "{{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}}" "0000074839" "00002271" "70" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Tyr31His)" "2" "0000074840" "00002271" "70" "389" "0" "389" "0" "c.389A>C" "r.(?)" "p.(His130Pro)" "3" "0000074841" "00002271" "90" "156" "1" "156" "1" "c.156+1G>T" "r.[156_157ins[u;156+2_156+43],156_157ins[u;156+2_156+72]]" "p.[Asn53Leufs*15,Asn53Leufs*19]" "2i" "0000089118" "00002271" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Met139Thr)" "3" "0000089119" "00002271" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Met139Thr)" "3" "0000089120" "00002271" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Met139Thr)" "3" "0000089121" "00002271" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Met139Thr)" "3" "0000089122" "00002271" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Met139Thr)" "3" "0000089123" "00002271" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Met139Thr)" "3" "0000089124" "00002271" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Met139Thr)" "3" "0000259003" "00002271" "10" "156" "16" "156" "16" "c.156+16G>A" "r.(=)" "p.(=)" "" "0000260688" "00002271" "10" "156" "16" "156" "16" "c.156+16G>A" "r.(=)" "p.(=)" "" "0000549292" "00002271" "30" "504" "0" "504" "0" "c.504T>C" "r.(?)" "p.(Asn168=)" "" "0000549293" "00002271" "10" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(His155=)" "" "0000549294" "00002271" "10" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(His155=)" "" "0000549295" "00002271" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Val134Met)" "" "0000549296" "00002271" "50" "114" "0" "114" "0" "c.114T>G" "r.(?)" "p.(Ser38Arg)" "" "0000648662" "00002271" "10" "1625" "0" "1625" "0" "c.*1028C>T" "r.(=)" "p.(=)" "" "0000669199" "00002271" "10" "1625" "0" "1625" "0" "c.*1028C>T" "r.(=)" "p.(=)" "" "0000724265" "00002271" "10" "428" "-5" "428" "-5" "c.428-5dup" "r.spl?" "p.?" "" "0000805962" "00002271" "50" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99Gln)" "" "0000890809" "00002271" "30" "517" "0" "517" "0" "c.517T>G" "r.(?)" "p.(Ser173Ala)" "" "0000920229" "00002271" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Gln)" "2" "0000930153" "00002271" "10" "428" "-5" "428" "-5" "c.428-5dup" "r.spl?" "p.?" "" "0000930154" "00002271" "70" "98" "0" "98" "0" "c.98T>A" "r.(?)" "p.(Val33Glu)" "" "0000950035" "00002271" "30" "48" "0" "48" "0" "c.48A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000046702" "0000074839" "0000046703" "0000074840" "0000046704" "0000074841" "0000058532" "0000089118" "0000058533" "0000089119" "0000058534" "0000089120" "0000058535" "0000089121" "0000058536" "0000089122" "0000058537" "0000089123" "0000058538" "0000089124" "0000291973" "0000648662" "0000305511" "0000669199" "0000434469" "0000920229"