### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HRNR) # 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}}" "HRNR" "hornerin" "1" "q21.3" "unknown" "NC_000001.10" "UD_132319166857" "" "https://www.LOVD.nl/HRNR" "" "1" "20846" "388697" "616293" "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/HRNR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-19 17:23:38" "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}}" "00024244" "HRNR" "hornerin" "001" "NM_001009931.2" "" "NP_001009931.1" "" "" "" "-79" "9553" "8553" "152196672" "152184552" "00006" "2017-03-19 17:22:25" "" "" ## 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}}" "05238" "PDB" "Paget disease of bone (PDB)" "" "" "" "" "" "00006" "2017-03-18 19:40:34" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00065168" "" "" "" "14" "" "01604" "{PMID:Divisato 2016:26849110}, {DOI:Divisato 2016:10.1016/j.ajhg.2015.12.016}" "5-generation family, 14-affecteds (9F, 5M)" "M" "no" "Italy" ">35y" "0" "" "" "Italian" "26849110-Fam1PatV4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00065168" "05238" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05238 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000079421" "05238" "00065168" "01604" "Familial, autosomal dominant" "35y" "Giant Cell Tumor (HP:0011847), coronary heart disease (HP:0004929)" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065321" "00065168" "1" "01604" "01604" "2016-05-20 14:00:14" "" "" "IHC;PCRq;SEQ;SEQ-NG-I;SEQ-NG-R;Western" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000065321" "ZNF687" ## 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 = 42 "{{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}}" "0000164224" "21" "50" "1" "152185676" "152185677" "del" "0" "00006" "HRNR_000001" "g.152185676_152185677del" "" "{PMID:Divisato 2016:26849110}, {DOI:Divisato 2016:10.1016/j.ajhg.2015.12.016}" "" "152185676delTA" "ancestral haplotype" "Germline" "" "" "0" "" "" "g.152213200_152213201del" "" "VUS" "" "0000289187" "0" "10" "1" "152195739" "152195739" "del" "0" "01943" "HRNR_000010" "g.152195739del" "" "" "" "HRNR(NM_001009931.1):c.-1del (p.(=)), HRNR(NM_001009931.2):c.1delA (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152223263del" "" "benign" "" "0000289188" "0" "30" "1" "152191064" "152191064" "subst" "0.000296454" "01943" "HRNR_000008" "g.152191064T>C" "" "" "" "HRNR(NM_001009931.2):c.3041A>G (p.H1014R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152218588T>C" "" "likely benign" "" "0000289189" "0" "30" "1" "152193158" "152193158" "subst" "0.000121822" "01943" "HRNR_000009" "g.152193158G>A" "" "" "" "HRNR(NM_001009931.2):c.947C>T (p.S316L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152220682G>A" "" "likely benign" "" "0000320987" "0" "50" "1" "152186860" "152186860" "subst" "0.000263457" "01804" "HRNR_000003" "g.152186860C>A" "" "" "" "HRNR(NM_001009931.1):c.7245G>T (p.(Gln2415His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152214384C>A" "" "VUS" "" "0000320988" "0" "50" "1" "152187404" "152187404" "subst" "0.0025008" "01804" "HRNR_000004" "g.152187404G>C" "" "" "" "HRNR(NM_001009931.1):c.6701C>G (p.(Ser2234Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152214928G>C" "" "VUS" "" "0000320989" "0" "50" "1" "152190230" "152190230" "subst" "0" "01804" "HRNR_000005" "g.152190230C>T" "" "" "" "HRNR(NM_001009931.1):c.3875G>A (p.(Gly1292Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152217754C>T" "" "VUS" "" "0000320992" "0" "50" "1" "152195738" "152195739" "del" "0" "01804" "HRNR_000011" "g.152195738_152195739del" "" "" "" "HRNR(NM_001009931.1):c.-1_1del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152223262_152223263del" "" "VUS" "" "0000320993" "0" "50" "1" "152195739" "152195739" "del" "0" "01804" "HRNR_000012" "g.152195739del" "" "" "" "HRNR(NM_001009931.1):c.-1del (p.(=)), HRNR(NM_001009931.2):c.1delA (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152223263del" "" "VUS" "" "0000503154" "0" "30" "1" "152186091" "152186091" "subst" "0.000159067" "01943" "HRNR_000016" "g.152186091C>T" "" "" "" "HRNR(NM_001009931.2):c.8014G>A (p.G2672R), HRNR(NM_001009931.3):c.8014G>A (p.(Gly2672Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152213615C>T" "" "likely benign" "" "0000503155" "0" "50" "1" "152186196" "152186196" "subst" "0" "01943" "HRNR_000017" "g.152186196G>A" "" "" "" "HRNR(NM_001009931.2):c.7909C>T (p.R2637C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152213720G>A" "" "VUS" "" "0000503158" "0" "30" "1" "152186605" "152186605" "subst" "0" "01943" "HRNR_000020" "g.152186605G>A" "" "" "" "HRNR(NM_001009931.2):c.7500C>T (p.G2500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152214129G>A" "" "likely benign" "" "0000503160" "0" "30" "1" "152186802" "152186802" "subst" "0" "01943" "HRNR_000022" "g.152186802T>C" "" "" "" "HRNR(NM_001009931.2):c.7303A>G (p.S2435G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152214326T>C" "" "likely benign" "" "0000503162" "0" "30" "1" "152187195" "152187195" "subst" "0" "01804" "HRNR_000024" "g.152187195G>A" "" "" "" "HRNR(NM_001009931.1):c.6910C>T (p.(Arg2304Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152214719G>A" "" "likely benign" "" "0000503169" "0" "30" "1" "152187320" "152187320" "subst" "0" "01804" "HRNR_000031" "g.152187320G>C" "" "" "" "HRNR(NM_001009931.1):c.6785C>G (p.(Thr2262Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152214844G>C" "" "likely benign" "" "0000503170" "0" "30" "1" "152188180" "152188180" "subst" "0" "01943" "HRNR_000032" "g.152188180G>T" "" "" "" "HRNR(NM_001009931.2):c.5925C>A (p.S1975=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152215704G>T" "" "likely benign" "" "0000503176" "0" "10" "1" "152189451" "152189451" "subst" "0" "01943" "HRNR_000038" "g.152189451T>C" "" "" "" "HRNR(NM_001009931.2):c.4654A>G (p.T1552A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152216975T>C" "" "benign" "" "0000503181" "0" "30" "1" "152192823" "152192823" "subst" "0.000178672" "01943" "HRNR_000042" "g.152192823G>T" "" "" "" "HRNR(NM_001009931.2):c.1282C>A (p.Q428K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152220347G>T" "" "likely benign" "" "0000503182" "0" "30" "1" "152192824" "152192824" "subst" "0.000178679" "01943" "HRNR_000043" "g.152192824G>T" "" "" "" "HRNR(NM_001009931.2):c.1281C>A (p.G427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152220348G>T" "" "likely benign" "" "0000604801" "0" "30" "1" "152191168" "152191168" "subst" "0.000381841" "01943" "HRNR_000047" "g.152191168C>T" "" "" "" "HRNR(NM_001009931.2):c.2937G>A (p.S979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152218692C>T" "" "likely benign" "" "0000604802" "0" "50" "1" "152191331" "152191331" "subst" "4.06062E-6" "01943" "HRNR_000048" "g.152191331C>T" "" "" "" "HRNR(NM_001009931.2):c.2774G>A (p.G925D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152218855C>T" "" "VUS" "" "0000620397" "0" "30" "1" "152190308" "152190308" "subst" "0" "01943" "HRNR_000006" "g.152190308C>T" "" "" "" "HRNR(NM_001009931.2):c.3797G>A (p.G1266D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152217832C>T" "" "likely benign" "" "0000675478" "0" "30" "1" "152190190" "152190190" "subst" "0" "01943" "HRNR_000050" "g.152190190C>T" "" "" "" "HRNR(NM_001009931.2):c.3915G>A (p.G1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716808" "0" "30" "1" "152185960" "152185960" "subst" "4.89179E-6" "01943" "HRNR_000051" "g.152185960C>T" "" "" "" "HRNR(NM_001009931.2):c.8145G>A (p.G2715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716809" "0" "30" "1" "152190719" "152190719" "subst" "0" "01943" "HRNR_000052" "g.152190719C>T" "" "" "" "HRNR(NM_001009931.2):c.3386G>A (p.G1129D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716810" "0" "30" "1" "152191285" "152191285" "subst" "0.000491383" "01943" "HRNR_000053" "g.152191285C>G" "" "" "" "HRNR(NM_001009931.2):c.2820G>C (p.Q940H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798778" "0" "30" "1" "152188212" "152188212" "subst" "0.00229163" "01804" "HRNR_000054" "g.152188212C>T" "" "" "" "HRNR(NM_001009931.1):c.5893G>A (p.(Gly1965Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798779" "0" "30" "1" "152192960" "152192960" "subst" "1.21854E-5" "01943" "HRNR_000055" "g.152192960C>G" "" "" "" "HRNR(NM_001009931.2):c.1145G>C (p.G382A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856970" "0" "30" "1" "152189505" "152189505" "subst" "0" "01943" "HRNR_000056" "g.152189505C>T" "" "" "" "HRNR(NM_001009931.2):c.4600G>A (p.G1534S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856971" "0" "30" "1" "152191169" "152191169" "subst" "9.74904E-5" "01943" "HRNR_000057" "g.152191169G>A" "" "" "" "HRNR(NM_001009931.2):c.2936C>T (p.S979L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856972" "0" "30" "1" "152191476" "152191476" "subst" "4.06085E-5" "01943" "HRNR_000058" "g.152191476C>T" "" "" "" "HRNR(NM_001009931.2):c.2629G>A (p.A877T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856973" "0" "30" "1" "152192364" "152192364" "subst" "0" "01943" "HRNR_000059" "g.152192364A>C" "" "" "" "HRNR(NM_001009931.2):c.1741T>G (p.S581A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990277" "0" "30" "1" "152190881" "152190881" "subst" "0.000223377" "01804" "HRNR_000061" "g.152190881G>T" "" "" "" "HRNR(NM_001009931.2):c.3224C>A (p.(Thr1075Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990278" "0" "50" "1" "152191227" "152191227" "subst" "0.000499492" "01804" "HRNR_000062" "g.152191227G>T" "" "" "" "HRNR(NM_001009931.2):c.2878C>A (p.(His960Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990279" "0" "30" "1" "152191484" "152191484" "subst" "0.00014618" "01804" "HRNR_000063" "g.152191484G>T" "" "" "" "HRNR(NM_001009931.2):c.2621C>A (p.(Ser874Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990280" "0" "50" "1" "152191725" "152191725" "subst" "0.000227409" "01804" "HRNR_000064" "g.152191725G>A" "" "" "" "HRNR(NM_001009931.2):c.2380C>T (p.(His794Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990281" "0" "30" "1" "152191902" "152191902" "subst" "0" "01804" "HRNR_000065" "g.152191902G>C" "" "" "" "HRNR(NM_001009931.2):c.2203C>G (p.(Gln735Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990282" "0" "30" "1" "152192345" "152192345" "subst" "0.000434648" "01804" "HRNR_000066" "g.152192345T>C" "" "" "" "HRNR(NM_001009931.2):c.1760A>G (p.(Gln587Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990283" "0" "30" "1" "152193233" "152193233" "subst" "0.000288306" "01804" "HRNR_000067" "g.152193233C>T" "" "" "" "HRNR(NM_001009931.2):c.872G>A (p.(Arg291His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031265" "0" "30" "1" "152186091" "152186091" "subst" "0.000159067" "01804" "HRNR_000016" "g.152186091C>T" "" "" "" "HRNR(NM_001009931.2):c.8014G>A (p.G2672R), HRNR(NM_001009931.3):c.8014G>A (p.(Gly2672Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031266" "0" "50" "1" "152191556" "152191556" "subst" "3.24844E-5" "01804" "HRNR_000068" "g.152191556T>C" "" "" "" "HRNR(NM_001009931.3):c.2549A>G (p.(Gln850Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031267" "0" "50" "1" "152193518" "152193518" "subst" "4.06068E-6" "01804" "HRNR_000069" "g.152193518C>T" "" "" "" "HRNR(NM_001009931.3):c.587G>A (p.(Gly196Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 HRNR ## Count = 42 "{{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}}" "0000164224" "00024244" "50" "8429" "0" "8430" "0" "c.8429_8430del" "r.(?)" "p.(Tyr2810Phefs*8)" "3" "0000289187" "00024244" "10" "1" "0" "1" "0" "c.1del" "r.(?)" "p.(Met1?)" "" "0000289188" "00024244" "30" "3041" "0" "3041" "0" "c.3041A>G" "r.(?)" "p.(His1014Arg)" "" "0000289189" "00024244" "30" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Ser316Leu)" "" "0000320987" "00024244" "50" "7245" "0" "7245" "0" "c.7245G>T" "r.(?)" "p.(Gln2415His)" "" "0000320988" "00024244" "50" "6701" "0" "6701" "0" "c.6701C>G" "r.(?)" "p.(Ser2234Cys)" "" "0000320989" "00024244" "50" "3875" "0" "3875" "0" "c.3875G>A" "r.(?)" "p.(Gly1292Glu)" "" "0000320992" "00024244" "50" "-1" "0" "1" "0" "c.-1_1del" "r.(?)" "p.(Met1?)" "" "0000320993" "00024244" "50" "1" "0" "1" "0" "c.1del" "r.(?)" "p.(Met1?)" "" "0000503154" "00024244" "30" "8014" "0" "8014" "0" "c.8014G>A" "r.(?)" "p.(Gly2672Arg)" "" "0000503155" "00024244" "50" "7909" "0" "7909" "0" "c.7909C>T" "r.(?)" "p.(Arg2637Cys)" "" "0000503158" "00024244" "30" "7500" "0" "7500" "0" "c.7500C>T" "r.(?)" "p.(Gly2500=)" "" "0000503160" "00024244" "30" "7303" "0" "7303" "0" "c.7303A>G" "r.(?)" "p.(Ser2435Gly)" "" "0000503162" "00024244" "30" "6910" "0" "6910" "0" "c.6910C>T" "r.(?)" "p.(Arg2304Ter)" "" "0000503169" "00024244" "30" "6785" "0" "6785" "0" "c.6785C>G" "r.(?)" "p.(Thr2262Ser)" "" "0000503170" "00024244" "30" "5925" "0" "5925" "0" "c.5925C>A" "r.(?)" "p.(Ser1975=)" "" "0000503176" "00024244" "10" "4654" "0" "4654" "0" "c.4654A>G" "r.(?)" "p.(Thr1552Ala)" "" "0000503181" "00024244" "30" "1282" "0" "1282" "0" "c.1282C>A" "r.(?)" "p.(Gln428Lys)" "" "0000503182" "00024244" "30" "1281" "0" "1281" "0" "c.1281C>A" "r.(?)" "p.(Gly427=)" "" "0000604801" "00024244" "30" "2937" "0" "2937" "0" "c.2937G>A" "r.(?)" "p.(Ser979=)" "" "0000604802" "00024244" "50" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Gly925Asp)" "" "0000620397" "00024244" "30" "3797" "0" "3797" "0" "c.3797G>A" "r.(?)" "p.(Gly1266Asp)" "" "0000675478" "00024244" "30" "3915" "0" "3915" "0" "c.3915G>A" "r.(?)" "p.(Gly1305=)" "" "0000716808" "00024244" "30" "8145" "0" "8145" "0" "c.8145G>A" "r.(?)" "p.(Gly2715=)" "" "0000716809" "00024244" "30" "3386" "0" "3386" "0" "c.3386G>A" "r.(?)" "p.(Gly1129Asp)" "" "0000716810" "00024244" "30" "2820" "0" "2820" "0" "c.2820G>C" "r.(?)" "p.(Gln940His)" "" "0000798778" "00024244" "30" "5893" "0" "5893" "0" "c.5893G>A" "r.(?)" "p.(Gly1965Ser)" "" "0000798779" "00024244" "30" "1145" "0" "1145" "0" "c.1145G>C" "r.(?)" "p.(Gly382Ala)" "" "0000856970" "00024244" "30" "4600" "0" "4600" "0" "c.4600G>A" "r.(?)" "p.(Gly1534Ser)" "" "0000856971" "00024244" "30" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Ser979Leu)" "" "0000856972" "00024244" "30" "2629" "0" "2629" "0" "c.2629G>A" "r.(?)" "p.(Ala877Thr)" "" "0000856973" "00024244" "30" "1741" "0" "1741" "0" "c.1741T>G" "r.(?)" "p.(Ser581Ala)" "" "0000990277" "00024244" "30" "3224" "0" "3224" "0" "c.3224C>A" "r.(?)" "p.(Thr1075Asn)" "" "0000990278" "00024244" "50" "2878" "0" "2878" "0" "c.2878C>A" "r.(?)" "p.(His960Asn)" "" "0000990279" "00024244" "30" "2621" "0" "2621" "0" "c.2621C>A" "r.(?)" "p.(Ser874Tyr)" "" "0000990280" "00024244" "50" "2380" "0" "2380" "0" "c.2380C>T" "r.(?)" "p.(His794Tyr)" "" "0000990281" "00024244" "30" "2203" "0" "2203" "0" "c.2203C>G" "r.(?)" "p.(Gln735Glu)" "" "0000990282" "00024244" "30" "1760" "0" "1760" "0" "c.1760A>G" "r.(?)" "p.(Gln587Arg)" "" "0000990283" "00024244" "30" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291His)" "" "0001031265" "00024244" "30" "8014" "0" "8014" "0" "c.8014G>A" "r.(?)" "p.(Gly2672Arg)" "" "0001031266" "00024244" "50" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Gln850Arg)" "" "0001031267" "00024244" "50" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Gly196Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000065321" "0000164224"