### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GNRHR) # 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}}" "GNRHR" "gonadotropin-releasing hormone receptor" "4" "q21.2" "unknown" "NG_009293.1" "UD_132118971432" "" "https://www.LOVD.nl/GNRHR" "" "1" "4421" "2798" "138850" "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/GNRHR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-16 19:51:40" "00000" "2025-10-22 12:53:03" ## 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}}" "00008686" "GNRHR" "transcript variant 1" "002" "NM_000406.2" "" "NP_000397.1" "" "" "" "-1751" "4092" "987" "68621804" "68603093" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01388" "HH7" "hypogonadism, hypogonadotropic, type 7 (HH7)" "AR" "146110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05284" "ANI" "anosmia, isolated (ANI)" "" "" "" "" "" "00006" "2017-06-16 19:42:14" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GNRHR" "01388" ## 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}}" "00103196" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00104951" "" "" "" "1" "" "02034" "" "" "M" "?" "Israel" "" "0" "" "" "Jewish" "" "00231561" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat253" "00293655" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293656" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00103196" "01388" "00104951" "05284" "00231561" "05597" "00293655" "00198" "00293656" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01388, 05284, 05597 ## Count = 3 "{{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}}" "0000081311" "01388" "00103196" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082947" "05284" "00104951" "02034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173952" "05597" "00231561" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" ## 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}}" "0000103649" "00103196" "1" "01741" "01741" "2017-04-05 12:27:48" "" "" "SEQ" "DNA" "" "" "0000105426" "00104951" "1" "02034" "02034" "2017-06-13 05:58:03" "" "" "SEQ-NG-IT" "DNA" "" "" "0000232660" "00231561" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000294823" "00293655" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294824" "00293656" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000103649" "GNRHR" "0000232660" "GNRHR" "0000232660" "HSD3B2" ## 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 = 31 "{{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}}" "0000167103" "0" "70" "4" "68610442" "68610442" "subst" "0" "01741" "GNRHR_000001" "g.68610442A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67744724A>T" "" "likely pathogenic" "" "0000170846" "0" "90" "4" "68619737" "68619737" "subst" "0.00279698" "02034" "GNRHR_000002" "g.68619737T>C" "" "" "" "" "" "Germline" "?" "rs104893836" "0" "" "" "g.67754019T>C" "" "pathogenic" "" "0000288580" "0" "90" "4" "68606417" "68606417" "subst" "8.16247E-6" "01943" "GNRHR_000003" "g.68606417G>A" "" "" "" "GNRHR(NM_001012763.1):c.640C>T (p.Q214*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67740699G>A" "" "pathogenic" "" "0000340384" "0" "10" "4" "68619601" "68619601" "subst" "0.075198" "02327" "GNRHR_000008" "g.68619601G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67753883G>A" "" "benign" "" "0000341902" "0" "90" "4" "68619638" "68619638" "subst" "0.000154745" "02327" "GNRHR_000009" "g.68619638C>T" "" "" "" "GNRHR(NM_000406.2):c.416G>A (p.R139H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67753920C>T" "" "pathogenic" "" "0000342456" "0" "90" "4" "68606400" "68606400" "subst" "0.00181593" "02327" "GNRHR_000007" "g.68606400C>T" "" "" "" "GNRHR(NM_000406.3):c.785G>A (p.(Arg262Gln), p.R262Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67740682C>T" "" "pathogenic" "" "0000344341" "0" "90" "4" "68606349" "68606349" "subst" "5.6887E-5" "02327" "GNRHR_000006" "g.68606349C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67740631C>T" "" "pathogenic" "" "0000344494" "0" "90" "4" "68619737" "68619737" "subst" "0.00279698" "02327" "GNRHR_000002" "g.68619737T>C" "" "" "" "GNRHR(NM_000406.2):c.317A>G (p.Q106R), GNRHR(NM_000406.3):c.317A>G (p.(Gln106Arg), p.Q106R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67754019T>C" "" "pathogenic" "" "0000345585" "0" "50" "4" "68620032" "68620032" "subst" "0" "02327" "GNRHR_000011" "g.68620032C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67754314C>T" "" "VUS" "" "0000347744" "0" "70" "4" "68619662" "68619662" "subst" "0" "02327" "GNRHR_000010" "g.68619662A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67753944A>G" "" "likely pathogenic" "" "0000347807" "0" "50" "4" "68606298" "68606298" "subst" "0" "02327" "GNRHR_000005" "g.68606298A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67740580A>T" "" "VUS" "" "0000474993" "3" "90" "4" "68606400" "68606400" "subst" "0.00181593" "00006" "GNRHR_000007" "g.68606400C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67740682C>T" "" "pathogenic" "" "0000523060" "0" "50" "4" "68619618" "68619618" "subst" "0.00120532" "02327" "GNRHR_000012" "g.68619618G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67753900G>A" "" "VUS" "" "0000523061" "0" "90" "4" "68619638" "68619638" "subst" "0.000154745" "01943" "GNRHR_000009" "g.68619638C>T" "" "" "" "GNRHR(NM_000406.2):c.416G>A (p.R139H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67753920C>T" "" "pathogenic" "" "0000523062" "0" "50" "4" "68619905" "68619905" "subst" "4.06534E-5" "02325" "GNRHR_000013" "g.68619905G>A" "" "" "" "GNRHR(NM_000406.3):c.149C>T (p.A50V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67754187G>A" "" "VUS" "" "0000609281" "0" "90" "4" "68619737" "68619737" "subst" "0.00279698" "01943" "GNRHR_000002" "g.68619737T>C" "" "" "" "GNRHR(NM_000406.2):c.317A>G (p.Q106R), GNRHR(NM_000406.3):c.317A>G (p.(Gln106Arg), p.Q106R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67754019T>C" "" "pathogenic" "" "0000621416" "0" "90" "4" "68619737" "68619737" "subst" "0.00279698" "02325" "GNRHR_000002" "g.68619737T>C" "" "" "" "GNRHR(NM_000406.2):c.317A>G (p.Q106R), GNRHR(NM_000406.3):c.317A>G (p.(Gln106Arg), p.Q106R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67754019T>C" "" "pathogenic" "" "0000651512" "1" "90" "4" "68606400" "68606400" "subst" "0.00181593" "03575" "GNRHR_000007" "g.68606400C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs104893837}" "Germline" "" "rs104893837" "0" "" "" "g.67740682C>T" "" "pathogenic" "" "0000651513" "1" "90" "4" "68619638" "68619638" "subst" "0.000154745" "03575" "GNRHR_000009" "g.68619638C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104893842}" "Germline" "" "rs104893842" "0" "" "" "g.67753920C>T" "" "pathogenic" "" "0000677307" "0" "70" "4" "68619782" "68619782" "subst" "0" "02327" "GNRHR_000014" "g.68619782G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689334" "0" "30" "4" "68606377" "68606377" "subst" "0" "01943" "GNRHR_000015" "g.68606377C>T" "" "" "" "GNRHR(NM_000406.2):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719976" "0" "90" "4" "68606400" "68606400" "subst" "0.00181593" "02329" "GNRHR_000007" "g.68606400C>T" "" "" "" "GNRHR(NM_000406.3):c.785G>A (p.(Arg262Gln), p.R262Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719977" "0" "30" "4" "68619867" "68619867" "subst" "0" "01943" "GNRHR_000016" "g.68619867A>G" "" "" "" "GNRHR(NM_000406.2):c.187T>C (p.W63R), GNRHR(NM_000406.3):c.187T>C (p.(Trp63Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886364" "0" "90" "4" "68620023" "68620024" "delins" "0" "02327" "GNRHR_000017" "g.68620023_68620024delinsTT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912136" "0" "70" "4" "68619776" "68619776" "subst" "0" "02327" "GNRHR_000018" "g.68619776A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976346" "0" "90" "4" "68619737" "68619737" "subst" "0.00279698" "01804" "GNRHR_000002" "g.68619737T>C" "" "" "" "GNRHR(NM_000406.2):c.317A>G (p.Q106R), GNRHR(NM_000406.3):c.317A>G (p.(Gln106Arg), p.Q106R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024941" "0" "90" "4" "68620023" "68620023" "subst" "0.000135367" "02327" "GNRHR_000019" "g.68620023G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024942" "0" "90" "4" "68620024" "68620024" "subst" "0.000135394" "02327" "GNRHR_000020" "g.68620024A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034646" "0" "90" "4" "68606400" "68606400" "subst" "0.00181593" "01804" "GNRHR_000007" "g.68606400C>T" "" "" "" "GNRHR(NM_000406.3):c.785G>A (p.(Arg262Gln), p.R262Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034647" "0" "50" "4" "68619867" "68619867" "subst" "0" "01804" "GNRHR_000016" "g.68619867A>G" "" "" "" "GNRHR(NM_000406.2):c.187T>C (p.W63R), GNRHR(NM_000406.3):c.187T>C (p.(Trp63Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049492" "0" "90" "4" "68606400" "68606400" "subst" "0.00181593" "03779" "GNRHR_000007" "g.68606400C>T" "" "" "" "" "" "Unknown" "" "rs104893837" "0" "" "" "" "" "pathogenic" "" ## 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 GNRHR ## Count = 31 "{{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}}" "0000167103" "00008686" "70" "586" "0" "586" "0" "c.586T>A" "r.(?)" "p.(Cys196Ser)" "2" "0000170846" "00008686" "90" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Gln106Arg)" "1" "0000288580" "00008686" "90" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Asn256=)" "" "0000340384" "00008686" "10" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Ser151=)" "" "0000341902" "00008686" "90" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0000342456" "00008686" "90" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0000344341" "00008686" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Cys279Tyr)" "" "0000344494" "00008686" "90" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Gln106Arg)" "" "0000345585" "00008686" "50" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Glu8Lys)" "" "0000347744" "00008686" "70" "392" "0" "392" "0" "c.392T>C" "r.(?)" "p.(Met131Thr)" "" "0000347807" "00008686" "50" "887" "0" "887" "0" "c.887T>A" "r.(?)" "p.(Met296Lys)" "" "0000474993" "00008686" "90" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0000523060" "00008686" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Pro146Ser)" "" "0000523061" "00008686" "90" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0000523062" "00008686" "50" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Ala50Val)" "" "0000609281" "00008686" "90" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Gln106Arg)" "" "0000621416" "00008686" "90" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Gln106Arg)" "" "0000651512" "00008686" "90" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0000651513" "00008686" "90" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0000677307" "00008686" "70" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Thr91Ile)" "" "0000689334" "00008686" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000719976" "00008686" "90" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0000719977" "00008686" "30" "187" "0" "187" "0" "c.187T>C" "r.(?)" "p.(Trp63Arg)" "" "0000886364" "00008686" "90" "30" "0" "31" "0" "c.30_31delinsAA" "r.(?)" "p.(Asn10_Gln11delinsLysLys)" "" "0000912136" "00008686" "70" "278" "0" "278" "0" "c.278T>A" "r.(?)" "p.(Ile93Asn)" "" "0000976346" "00008686" "90" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Gln106Arg)" "" "0001024941" "00008686" "90" "31" "0" "31" "0" "c.31C>A" "r.(?)" "p.(Gln11Lys)" "" "0001024942" "00008686" "90" "30" "0" "30" "0" "c.30T>A" "r.(?)" "p.(Asn10Lys)" "" "0001034646" "00008686" "90" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0001034647" "00008686" "50" "187" "0" "187" "0" "c.187T>C" "r.(?)" "p.(Trp63Arg)" "" "0001049492" "00008686" "90" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000103649" "0000167103" "0000105426" "0000170846" "0000232660" "0000474993" "0000294823" "0000651512" "0000294824" "0000651513"