### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HTR3E) # 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}}" "HTR3E" "5-hydroxytryptamine (serotonin) receptor 3E, ionotropic" "3" "q27" "unknown" "NG_012452.1" "UD_134408515369" "" "https://www.LOVD.nl/HTR3E" "IUPHAR/BPS guide to Pharmacology \r\nDSM online Library " "1" "24005" "285242" "610123" "1" "1" "1" "1" "University of Heidelberg Serotonin receptor variant database\r\nEstablishment of this gene variant database (LSDB) was performed for LOVD by Jacopo Celli (Leiden University Medical Center, NL)." "" "g" "https://databases.lovd.nl/shared/refseq/HTR3E_codingDNA.html" "1" "" "University of Heidelberg Serotonin receptor variant database" "-1" "" "-1" "00001" "2010-05-25 00:00:00" "00006" "2020-10-26 11:57:17" "00006" "2022-11-10 11:25:43" ## 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}}" "00009727" "HTR3E" "transcript variant 1" "003" "NM_182589.2" "" "NP_872395.2" "" "" "" "-194" "1718" "1416" "183817967" "183824783" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "04246" "IBD" "bowel disease, inflammatory (IBD)" "" "" "" "" "" "00006" "2015-05-01 23:30:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00315463" "" "" "" "1" "" "03806" "Niesler-Lab Kapeller PhD Thesis 2009" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315464" "" "" "" "1" "" "03806" "Niesler-Lab Kapeller PhD Thesis 2009" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315465" "" "" "" "1" "" "03806" "{PMID:Kapeller 2008:18614545}" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315466" "" "" "" "1" "" "03806" "Niesler-Lab Kapeller PhD Thesis 2009" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315467" "" "" "" "1" "" "03806" "{PMID:Schumacher 2009:19794330}" "Pharmacogenetic study" "" "" "Germany" "" "0" "" "" "white" "" "00315468" "" "" "" "1" "" "03806" "{PMID:Lennertz 2010:20356718}" "Case control study" "" "" "Germany" "" "0" "" "" "white" "" "00315469" "" "" "" "1" "" "03806" "Niesler-Lab Kapeller PhD Thesis 2009" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315470" "" "" "" "1" "" "03806" "Niesler-Lab Kapeller PhD Thesis 2009" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315471" "" "" "" "1" "" "03806" "Niesler-Lab Kapeller PhD Thesis 2009" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315472" "" "" "" "1" "" "03806" "Niesler-Lab Kapeller PhD Thesis 2009" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315473" "" "" "" "1" "" "03806" "Niesler-Lab Kapeller PhD Thesis 2009" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315474" "" "" "" "1" "" "03806" "Niesler-Lab Hammer Diploma Thesis 2006" "Case control study" "" "" "Germany" "" "0" "" "" "white" "" "00315475" "" "" "" "1" "" "03806" "{PMID:Kapeller 2008:18614545}" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315476" "" "" "" "1" "" "03806" "{PMID:Zhang Y. 2013:24257177}" "Case control study" "" "" "China" "" "0" "" "" "Asian" "" "00315477" "" "" "" "1" "" "03806" "{PMID:Gu 2015:26064388}" "Case control study" "" "" "China" "" "0" "" "" "Asian" "" "00315478" "" "" "" "1" "" "03806" "{PMID:Kapeller 2008:18614545}" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315479" "" "" "" "1" "" "03806" "{PMID:Kapeller 2008:18614545}" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315480" "" "" "" "1" "" "03806" "{PMID:Kapeller 2008:18614545}" "Case control study" "" "" "United Kingdom (Great Britain);Germany" "" "0" "" "" "white" "" "00315481" "" "" "" "1" "" "03806" "Niesler-Lab Hammer Diploma Thesis 2006" "Case control study" "" "" "Germany" "" "0" "" "" "white" "" "00422380" "" "" "" "8" "" "04402" "Atanasova 2022, submitted" "analysis 86 cases IBD" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00315463" "00000" "00315464" "00000" "00315465" "00000" "00315466" "00000" "00315467" "00198" "00315468" "00198" "00315469" "00000" "00315470" "00000" "00315471" "00000" "00315472" "00000" "00315473" "00000" "00315474" "00000" "00315475" "00198" "00315476" "00198" "00315477" "00198" "00315478" "00000" "00315479" "00000" "00315480" "00000" "00315481" "00000" "00422380" "04246" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04246 ## Count = 19 "{{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}}" "0000239215" "00000" "00315463" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239216" "00000" "00315464" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239217" "00000" "00315465" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239218" "00000" "00315466" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239219" "00198" "00315467" "03806" "Unknown" "" "atypical antipsychotics, antidepressants" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000239220" "00198" "00315468" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000239221" "00000" "00315469" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239222" "00000" "00315470" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239223" "00000" "00315471" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239224" "00000" "00315472" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239225" "00000" "00315473" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239226" "00000" "00315474" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239227" "00198" "00315475" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diarrhea-predominant irritable bowel syndrome (IBS-D)" "" "0000239228" "00198" "00315476" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "irritable bowel syndrome, diarrhea" "" "0000239229" "00198" "00315477" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "irritable bowel syndrome, diarrhea" "" "0000239230" "00000" "00315478" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239231" "00000" "00315479" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239232" "00000" "00315480" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239233" "00000" "00315481" "03806" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000316639" "00315463" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316640" "00315464" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316641" "00315465" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316642" "00315466" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316643" "00315467" "1" "03806" "03806" "2012-06-25 11:47:28" "03806" "2016-06-28 14:15:15" "SEQ" "DNA" "blood" "" "0000316644" "00315468" "1" "03806" "03806" "2012-06-25 11:47:28" "03806" "2016-06-28 14:15:15" "SEQ" "DNA" "blood" "" "0000316645" "00315469" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316646" "00315470" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316647" "00315471" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316648" "00315472" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316649" "00315473" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316650" "00315474" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316651" "00315475" "1" "03806" "03806" "2012-06-25 11:47:28" "03806" "2016-06-29 14:49:02" "SEQ" "DNA" "blood" "" "0000316652" "00315476" "1" "03806" "03806" "2016-04-28 16:28:19" "03806" "2016-04-28 16:51:38" "SEQ" "DNA" "blood" "" "0000316653" "00315477" "1" "03806" "03806" "2016-04-28 16:49:17" "" "" "PCRdig" "DNA" "blood" "" "0000316654" "00315478" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316655" "00315479" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316656" "00315480" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000316657" "00315481" "1" "03806" "03806" "2012-06-25 11:47:28" "" "" "SEQ" "DNA" "blood" "" "0000423691" "00422380" "1" "04402" "04402" "2022-10-20 16:18:27" "" "" "PCR" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000316639" "HTR3E" "0000316640" "HTR3E" "0000316641" "HTR3E" "0000316642" "HTR3E" "0000316643" "HTR3E" "0000316644" "HTR3E" "0000316645" "HTR3E" "0000316646" "HTR3E" "0000316647" "HTR3E" "0000316648" "HTR3E" "0000316649" "HTR3E" "0000316650" "HTR3E" "0000316651" "HTR3E" "0000316652" "HTR3E" "0000316653" "HTR3E" "0000316654" "HTR3E" "0000316655" "HTR3E" "0000316656" "HTR3E" "0000316657" "HTR3E" "0000423691" "HTR3E" ## 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 = 20 "{{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}}" "0000698794" "0" "55" "3" "183817694" "183817694" "subst" "0" "03806" "HTR3E_000001" "g.183817694A>G" "0.495 (0.424-0.566)" "Niesler-Lab Kapeller PhD Thesis 2009" "" "" "Sequence of patient differs from reference sequence" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000698795" "0" "55" "3" "183818282" "183818282" "subst" "0" "03806" "HTR3E_000002" "g.183818282A>G" "0.495 (0.424-0.566)" "Niesler-Lab Kapeller PhD Thesis 2009" "" "" "Sequence of patient differs from reference sequence" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000698796" "0" "55" "3" "183817972" "183817972" "subst" "0" "03806" "HTR3E_000003" "g.183817972A>G" "0.185 (0.134-0.250)" "{PMID:Kapeller 2008:18614545}" "+AvaII,Sau96I" "" "" "Germline" "" "rs34611203" "0" "" "" "g.184100184A>G" "" "VUS" "" "0000698797" "0" "55" "3" "183818224" "183818224" "del" "0" "03806" "HTR3E_000004" "g.183818224del" "0.085 (0.050-0.133)" "Niesler-Lab Kapeller PhD Thesis 2009" "" "c.62delG" "" "Germline" "" "" "0" "" "" "g.184100436del" "" "VUS" "" "0000698798" "0" "75" "3" "183818416" "183818416" "subst" "0.637995" "03806" "HTR3E_000005" "g.183818416G>A" "" "{PMID:Schumacher 2009:19794330}" "" "" "" "Germline" "" "rs7627615" "0" "" "" "g.184100628G>A" "" "association" "" "0000698799" "0" "75" "3" "183818416" "183818416" "subst" "0.637995" "03806" "HTR3E_000005" "g.183818416G>A" "" "{PMID:Lennertz 2010:20356718}" "" "A450G, Thr86Ala" "" "Germline" "" "rs7627615" "0" "" "" "g.184100628G>A" "" "association" "" "0000698800" "0" "55" "3" "183818416" "183818416" "subst" "0.637995" "03806" "HTR3E_000005" "g.183818416G>A" "0.37 (0.303-0.441)" "Niesler-Lab Kapeller PhD Thesis 2009" "" "" "" "Germline" "" "rs7627615" "0" "" "" "g.184100628G>A" "" "VUS" "" "0000698801" "0" "55" "3" "183823576" "183823576" "subst" "0.99717" "03806" "HTR3E_000006" "g.183823576T>C" "0.01 (0.001-0.036)" "Niesler-Lab Kapeller PhD Thesis 2009" "" "" "" "Germline" "" "rs4912524" "0" "" "" "g.184105788T>C" "" "VUS" "" "0000698802" "0" "55" "3" "183823861" "183823861" "subst" "0" "03806" "HTR3E_000007" "g.183823861G>T" "0 (0.000-0.018)" "Niesler-Lab Kapeller PhD Thesis 2009" "-EarI" "IVS6-55G>T" "" "Germline" "" "" "0" "" "" "g.184106073G>T" "" "VUS" "" "0000698803" "0" "55" "3" "183823866" "183823869" "dup" "0" "03806" "HTR3E_000008" "g.183823866_183823869dup" "0.37 (0.303-0.441)" "Niesler-Lab Kapeller PhD Thesis 2009" "" "IVS6-46insGAAA" "" "Germline" "" "rs56024836" "0" "" "" "g.184106078_184106081dup" "" "VUS" "" "0000698804" "0" "55" "3" "183823880" "183823880" "subst" "0.0114938" "03806" "HTR3E_000009" "g.183823880T>C" "0.04 (0.017-0.077)" "Niesler-Lab Kapeller PhD Thesis 2009" "-BsaHI,HaeII,HhaI,HinP1I,KasI,MwoI,NarI,PluTI,SfoI" "IVS6-36T>C" "" "Germline" "" "rs55756277" "0" "" "" "g.184106092T>C" "" "VUS" "" "0000698805" "0" "55" "3" "0" "0" "" "0" "03806" "HTR3E_000010" "g.?" "0.5" "Niesler-Lab Hammer Diploma Thesis 2006" "" "1307A>G" "Sequence of patient differs from reference sequence" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000698806" "0" "75" "3" "183824557" "183824557" "subst" "0" "03806" "HTR3E_000011" "g.183824557G>A" "0.06 (0.031-0.103)" "{PMID:Kapeller 2008:18614545}" "-BspCNI, Hpy188III" "" "" "Germline" "" "rs56109847" "0" "" "" "g.184106769G>A" "" "association" "" "0000698807" "0" "55" "3" "183824557" "183824557" "subst" "0" "03806" "HTR3E_000011" "g.183824557G>A" "" "{PMID:Zhang Y. 2013:24257177}" "-BspCNI, Hpy188III" "" "impaired miRNA regulation, increased expression" "Germline" "" "rs56109847" "0" "" "" "g.184106769G>A" "" "VUS" "" "0000698808" "0" "75" "3" "183824557" "183824557" "subst" "0" "03806" "HTR3E_000011" "g.183824557G>A" "0.08 (cases); 0.05 (controls)" "{PMID:Gu 2015:26064388}" "-BspCNI, Hpy188III" "" "impaired miRNA regulation, increased expression" "Germline" "" "rs56109847" "0" "" "" "g.184106769G>A" "" "association" "" "0000698809" "0" "55" "3" "183824596" "183824596" "subst" "0" "03806" "HTR3E_000012" "g.183824596T>G" "0.005 (0.000-0.028)" "{PMID:Kapeller 2008:18614545}" "+CviKI_1, NmeAIII" "" "" "Germline" "" "" "0" "" "" "g.184106808T>G" "" "VUS" "" "0000698810" "0" "55" "3" "183824619" "183824619" "subst" "0" "03806" "HTR3E_000013" "g.183824619C>T" "0.000 (0.000-0.018)" "{PMID:Kapeller 2008:18614545}" "-BsaWI, HpaII, MspI" "" "" "Germline" "" "" "0" "" "" "g.184106831C>T" "" "VUS" "" "0000698811" "0" "55" "3" "183824672" "183824672" "subst" "0" "03806" "HTR3E_000014" "g.183824672T>C" "0.000 (0.000-0.018)" "{PMID:Kapeller 2008:18614545}" "" "" "" "Germline" "" "" "0" "" "" "g.184106884T>C" "" "VUS" "" "0000698812" "0" "55" "3" "183824674" "183824674" "subst" "0" "03806" "HTR3E_000015" "g.183824674T>C" "0.5" "Niesler-Lab Hammer Diploma Thesis 2006" "+Cac8I" "" "" "Germline" "" "" "0" "" "" "g.184106886T>C" "" "VUS" "" "0000899441" "1" "10" "3" "183824557" "183824557" "subst" "0" "04402" "HTR3E_000011" "g.183824557G>A" "8/83 cases IBD" "Atanasova 2022, submitted" "" "" "no homozygous cases" "Germline" "" "rs56109847" "0" "" "" "g.184106769G>A" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HTR3E ## Count = 20 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000698794" "00009727" "55" "-194" "-273" "-194" "-273" "c.-467A>G" "r.(?)" "p.(=)" "1a" "" "0000698795" "00009727" "55" "122" "0" "122" "0" "c.67+55A>G" "r.(?)" "p.(=)" "1a" "" "0000698796" "00009727" "55" "-189" "0" "-189" "0" "c.-189A>G" "r.(?)" "p.(=)" "1" "" "0000698797" "00009727" "55" "64" "0" "64" "0" "c.64del" "r.(?)" "p.(Glu22Serfs*39)" "1" "" "0000698798" "00009727" "75" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Ala86Thr)" "1" "" "0000698799" "00009727" "75" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Ala86Thr)" "1" "" "0000698800" "00009727" "55" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Ala86Thr)" "6" "" "0000698801" "00009727" "55" "789" "0" "789" "0" "c.789T>C" "r.(?)" "p.(=)" "6" "" "0000698802" "00009727" "55" "971" "-55" "971" "-55" "c.971-55G>T" "r.(?)" "p.(=)" "6i" "" "0000698803" "00009727" "55" "971" "-50" "971" "-47" "c.971-50_971-47dup" "r.(?)" "p.(=)" "6i" "" "0000698804" "00009727" "55" "971" "-36" "971" "-36" "c.971-36T>C" "r.(?)" "p.(=)" "6i" "" "0000698805" "00009727" "55" "0" "0" "0" "0" "c.?" "r.(?)" "?" "8" "" "0000698806" "00009727" "75" "1492" "0" "1492" "0" "c.*76G>A" "r.(?)" "p.(=)" "8" "" "0000698807" "00009727" "55" "1492" "0" "1492" "0" "c.*76G>A" "r.(?)" "p.(=)" "8" "" "0000698808" "00009727" "75" "1492" "0" "1492" "0" "c.*76G>A" "r.(?)" "p.(=)" "8" "" "0000698809" "00009727" "55" "1531" "0" "1531" "0" "c.*115T>G" "r.(?)" "p.(=)" "8" "" "0000698810" "00009727" "55" "1554" "0" "1554" "0" "c.*138C>T" "r.(?)" "p.(=)" "8" "" "0000698811" "00009727" "55" "1607" "0" "1607" "0" "c.*191T>C" "r.(?)" "p.(=)" "8" "" "0000698812" "00009727" "55" "1609" "0" "1609" "0" "c.*193T>C" "r.(?)" "p.(=)" "8" "" "0000899441" "00009727" "10" "1492" "0" "1492" "0" "c.*76G>A" "r.(?)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000316639" "0000698794" "0000316640" "0000698795" "0000316641" "0000698796" "0000316642" "0000698797" "0000316643" "0000698798" "0000316644" "0000698799" "0000316645" "0000698800" "0000316646" "0000698801" "0000316647" "0000698802" "0000316648" "0000698803" "0000316649" "0000698804" "0000316650" "0000698805" "0000316651" "0000698806" "0000316652" "0000698807" "0000316653" "0000698808" "0000316654" "0000698809" "0000316655" "0000698810" "0000316656" "0000698811" "0000316657" "0000698812" "0000423691" "0000899441"