### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ESR2) # 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}}" "ESR2" "estrogen receptor 2 (ER beta)" "14" "q21-q22" "unknown" "NG_011535.1" "UD_132119104886" "" "https://www.LOVD.nl/ESR2" "" "1" "3468" "2100" "601663" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ESR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-08 15:44:22" "00000" "2025-07-08 13:22:38" ## 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}}" "00007251" "ESR2" "transcript variant b" "002" "NM_001040275.1" "" "NP_001035365.1" "" "" "" "-468" "1988" "1488" "64761128" "64693751" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04188" "ODG" "dysgenesis, ovarian (ODG)" "" "" "" "" "" "00006" "2015-02-14 15:50:42" "00006" "2019-08-08 15:42:52" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" "05643" "ODG8" "dysgenesis, ovarian, type 8 (ODG-8)" "AD" "618187" "" "" "autosomal dominant" "00006" "2019-08-08 15:44:06" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ESR2" "04188" "ESR2" "05643" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00104009" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-509A" "00248190" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00260945" "" "" "" "1" "" "00006" "{PMID:Baetens 2018:29261182}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00260946" "" "" "" "1" "" "00006" "{PMID:Baetens 2018:29261182}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat3" "00260947" "" "" "" "1" "" "00006" "{PMID:Baetens 2018:29261182}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00260948" "" "" "" "1" "" "00006" "{PMID:Muritano 2018:30113650}" "adopted child" "F" "" "" "" "0" "" "" "Africa (east)" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00104009" "03381" "00248190" "00318" "00260945" "05597" "00260946" "05597" "00260947" "05597" "00260948" "05597" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00318, 03381, 04188, 05597, 05643 ## Count = 6 "{{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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081943" "03381" "00104009" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000187199" "00318" "00248190" "01474" "Unknown" "" "55y ductal breast cancer, subtype basal" "55y" "" "" "" "" "" "" "" "breast cancer" "" "0000199478" "05597" "00260945" "00006" "Isolated (sporadic)" "15y" "see paper; ..., absence of pubertal development, facial dysmorphism, ocular anomalies" "" "" "" "" "" "" "" "ODG-8" "disorder of sex development" "" "0000199479" "05597" "00260946" "00006" "Isolated (sporadic)" "24y" "see paper; ..., primary amenorrhea, absent breast development, female external genitalia" "" "" "" "" "" "" "" "ODG-8" "disorder of sex development" "" "0000199480" "05597" "00260947" "00006" "Isolated (sporadic)" "12y06m" "see paper; ..." "" "" "" "" "" "" "" "ODG-8" "disorder of sex development" "" "0000199481" "05597" "00260948" "00006" "Unknown" "" "see paper; ..., ovarian dysgenesis" "" "" "" "" "" "" "" "ODG-8" "disorder of sex development" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104480" "00104009" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000249295" "00248190" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000262050" "00260945" "1" "00006" "00006" "2019-08-09 16:03:43" "" "" "SEQ" "DNA" "" "" "0000262051" "00260946" "1" "00006" "00006" "2019-08-09 16:07:18" "" "" "SEQ" "DNA" "" "" "0000262052" "00260947" "1" "00006" "00006" "2019-08-09 16:10:02" "" "" "SEQ" "DNA" "" "" "0000262053" "00260948" "1" "00006" "00006" "2019-08-09 16:31:22" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000262050" "ESR2" "0000262051" "ESR2" "0000262052" "ESR2" "0000262053" "ESR2" ## 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 = 30 "{{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}}" "0000169329" "0" "70" "14" "64701721" "64701721" "subst" "0" "00587" "ESR2_000001" "g.64701721A>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001437.2(ESR2):c.1373T>A p.(Leu458His)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.64235003A>T" "" "likely pathogenic" "" "0000253880" "0" "10" "14" "64690107" "64690107" "subst" "0.000649889" "01943" "SYNE2_000109" "g.64690107A>G" "" "" "" "SYNE2(NM_182914.2):c.20382+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64223389A>G" "" "benign" "" "0000314302" "0" "10" "14" "64689913" "64689913" "subst" "0.00216485" "02326" "SYNE2_000108" "g.64689913G>A" "" "" "" "SYNE2(NM_182914.2):c.20197G>A (p.E6733K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64223195G>A" "" "benign" "" "0000314303" "0" "30" "14" "64691166" "64691166" "subst" "0.000849877" "02326" "SYNE2_000110" "g.64691166G>A" "" "" "" "SYNE2(NM_182914.2):c.20383-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64224448G>A" "" "likely benign" "" "0000314304" "0" "30" "14" "64691206" "64691206" "subst" "0.00280208" "02326" "SYNE2_000111" "g.64691206G>A" "" "" "" "SYNE2(NM_182914.2):c.20410G>A (p.D6804N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64224488G>A" "" "likely benign" "" "0000316139" "0" "10" "14" "64691206" "64691206" "subst" "0.00280208" "01943" "SYNE2_000111" "g.64691206G>A" "" "" "" "SYNE2(NM_182914.2):c.20410G>A (p.D6804N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64224488G>A" "" "benign" "" "0000316140" "0" "30" "14" "64692044" "64692044" "subst" "3.28429E-5" "01943" "SYNE2_000112" "g.64692044G>A" "" "" "" "SYNE2(NM_182914.2):c.20524G>A (p.G6842S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64225326G>A" "" "likely benign" "" "0000552817" "0" "30" "14" "64691224" "64691224" "subst" "4.06121E-6" "01943" "SYNE2_000238" "g.64691224G>T" "" "" "" "SYNE2(NM_182914.2):c.20428G>T (p.D6810Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64224506G>T" "" "likely benign" "" "0000552818" "0" "10" "14" "64691744" "64691744" "subst" "0.00101955" "01943" "SYNE2_000239" "g.64691744G>A" "" "" "" "SYNE2(NM_182914.2):c.20497G>A (p.E6833K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64225026G>A" "" "benign" "" "0000552819" "0" "50" "14" "64701777" "64701777" "subst" "0.000154339" "02327" "ESR2_000002" "g.64701777C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64235059C>A" "" "VUS" "" "0000578046" "0" "50" "14" "64749628" "64749628" "subst" "4.06355E-6" "01474" "ESR2_000003" "g.64749628C>A" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "" "0" "" "" "g.64282910C>A" "" "VUS" "" "0000592185" "0" "70" "14" "64735624" "64735626" "del" "0" "00006" "ESR2_000004" "g.64735624_64735626del" "" "{PMID:Baetens 2018:29261182}" "" "" "" "De novo" "" "" "0" "" "" "g.64268906_64268908del" "" "likely pathogenic (dominant)" "" "0000592186" "0" "70" "14" "64701817" "64701817" "subst" "4.06458E-6" "00006" "ESR2_000005" "g.64701817A>C" "" "{PMID:Baetens 2018:29261182}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.64235099A>C" "" "likely pathogenic (dominant)" "" "0000592187" "0" "70" "14" "64749453" "64749453" "subst" "4.06187E-6" "00006" "ESR2_000006" "g.64749453C>A" "" "{PMID:Baetens 2018:29261182}" "" "251C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.64282735C>A" "" "likely pathogenic (dominant)" "" "0000592188" "0" "70" "14" "64727178" "64727178" "subst" "0" "00006" "ESR2_000007" "g.64727178T>C" "" "{PMID:Muritano 2018:30113650}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.64260460T>C" "" "likely pathogenic (dominant)" "" "0000615040" "0" "30" "14" "64691251" "64691251" "subst" "4.06121E-6" "02327" "SYNE2_000285" "g.64691251G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64224533G>T" "" "likely benign" "" "0000615041" "0" "50" "14" "64692195" "64692195" "subst" "3.68505E-5" "02327" "SYNE2_000286" "g.64692195G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64225477G>A" "" "VUS" "" "0000657461" "0" "50" "14" "64749340" "64749340" "subst" "6.67273E-5" "01943" "ESR2_000008" "g.64749340A>G" "" "" "" "ESR2(NM_001291712.1):c.362+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64282622A>G" "" "VUS" "" "0000806456" "0" "30" "14" "64692150" "64692150" "subst" "2.04906E-5" "01804" "SYNE2_000320" "g.64692150C>T" "" "" "" "SYNE2(NM_015180.4):c.20564C>T (p.(Ser6855Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891841" "0" "30" "14" "64691238" "64691238" "subst" "4.06095E-5" "02326" "SYNE2_000343" "g.64691238A>G" "" "" "" "SYNE2(NM_182914.2):c.20442A>G (p.A6814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891842" "0" "30" "14" "64692056" "64692056" "subst" "0.000496463" "02325" "SYNE2_000344" "g.64692056C>T" "" "" "" "SYNE2(NM_182914.3):c.20536C>T (p.P6846S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950264" "0" "30" "14" "64716313" "64716313" "subst" "0.00265253" "02326" "ESR2_000009" "g.64716313G>C" "" "" "" "ESR2(NM_001437.2):c.1176C>G (p.L392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980957" "0" "50" "14" "64694278" "64694281" "dup" "0" "01804" "SYNE2_000359" "g.64694278_64694281dup" "" "" "" "ESR2(NM_001040275.1):c.1459_1462dup (p.(Leu488SerfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980958" "0" "30" "14" "64735532" "64735532" "subst" "0.00125202" "01804" "ESR2_000010" "g.64735532T>C" "" "" "" "ESR2(NM_001437.3):c.633A>G (p.(Glu211=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001078" "0" "50" "14" "64716326" "64716326" "subst" "4.87436E-5" "01804" "ESR2_000011" "g.64716326C>T" "" "" "" "ESR2(NM_001437.2):c.1163G>A (p.(Arg388Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001079" "0" "50" "14" "64724004" "64724004" "subst" "0" "01804" "ESR2_000012" "g.64724004A>G" "" "" "" "ESR2(NM_001437.2):c.1031T>C (p.(Met344Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001080" "0" "50" "14" "64727363" "64727363" "dup" "0" "01804" "ESR2_000013" "g.64727363dup" "" "" "" "ESR2(NM_001437.2):c.756dupG (p.(Pro253fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040038" "0" "30" "14" "64723951" "64723951" "subst" "8.12203E-6" "01804" "ESR2_000014" "g.64723951G>A" "" "" "" "ESR2(NM_001437.3):c.1084C>T (p.(Leu362=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040039" "0" "50" "14" "64727170" "64727170" "subst" "0" "01804" "ESR2_000015" "g.64727170G>C" "" "" "" "ESR2(NM_001437.3):c.949C>G (p.(Pro317Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046475" "0" "50" "14" "64692115" "64692132" "del" "0" "02325" "SYNE2_000377" "g.64692115_64692132del" "" "" "" "SYNE2(NM_182914.3):c.20595_20612delCCTGCTGCTGCTGCTCCT (p.L6866_L6871del)" "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 ESR2 ## Count = 30 "{{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}}" "0000169329" "00007251" "00" "1373" "0" "1373" "0" "c.1373T>A" "r.(?)" "p.(Leu458His)" "" "0000253880" "00007251" "10" "5632" "0" "5632" "0" "c.*4144T>C" "r.(=)" "p.(=)" "" "0000314302" "00007251" "10" "5826" "0" "5826" "0" "c.*4338C>T" "r.(=)" "p.(=)" "" "0000314303" "00007251" "30" "4573" "0" "4573" "0" "c.*3085C>T" "r.(=)" "p.(=)" "" "0000314304" "00007251" "30" "4533" "0" "4533" "0" "c.*3045C>T" "r.(=)" "p.(=)" "" "0000316139" "00007251" "10" "4533" "0" "4533" "0" "c.*3045C>T" "r.(=)" "p.(=)" "" "0000316140" "00007251" "30" "3695" "0" "3695" "0" "c.*2207C>T" "r.(=)" "p.(=)" "" "0000552817" "00007251" "30" "4515" "0" "4515" "0" "c.*3027C>A" "r.(=)" "p.(=)" "" "0000552818" "00007251" "10" "3995" "0" "3995" "0" "c.*2507C>T" "r.(=)" "p.(=)" "" "0000552819" "00007251" "50" "1317" "0" "1317" "0" "c.1317G>T" "r.(?)" "p.(Trp439Cys)" "" "0000578046" "00007251" "00" "76" "0" "76" "0" "c.76G>T" "r.(?)" "p.(Glu26*)" "" "0000592185" "00007251" "70" "541" "0" "543" "0" "c.541_543del" "r.(?)" "p.(Asn181del)" "" "0000592186" "00007251" "70" "1277" "0" "1277" "0" "c.1277T>G" "r.(?)" "p.(Leu426Arg)" "" "0000592187" "00007251" "70" "251" "0" "251" "0" "c.251G>T" "r.(?)" "p.(Gly84Val)" "" "0000592188" "00007251" "70" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Lys314Arg)" "" "0000615040" "00007251" "30" "4488" "0" "4488" "0" "c.*3000C>A" "r.(=)" "p.(=)" "" "0000615041" "00007251" "50" "3544" "0" "3544" "0" "c.*2056C>T" "r.(=)" "p.(=)" "" "0000657461" "00007251" "50" "362" "2" "362" "2" "c.362+2T>C" "r.spl?" "p.?" "" "0000806456" "00007251" "30" "3589" "0" "3589" "0" "c.*2101G>A" "r.(=)" "p.(=)" "" "0000891841" "00007251" "30" "4501" "0" "4501" "0" "c.*3013T>C" "r.(=)" "p.(=)" "" "0000891842" "00007251" "30" "3683" "0" "3683" "0" "c.*2195G>A" "r.(=)" "p.(=)" "" "0000950264" "00007251" "30" "1176" "0" "1176" "0" "c.1176C>G" "r.(?)" "p.(Leu392=)" "" "0000980957" "00007251" "50" "1459" "0" "1462" "0" "c.1459_1462dup" "r.(?)" "p.(Leu488Serfs*4)" "" "0000980958" "00007251" "30" "633" "0" "633" "0" "c.633A>G" "r.(?)" "p.(Glu211=)" "" "0001001078" "00007251" "50" "1163" "0" "1163" "0" "c.1163G>A" "r.(?)" "p.(Arg388Gln)" "" "0001001079" "00007251" "50" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Met344Thr)" "" "0001001080" "00007251" "50" "756" "0" "756" "0" "c.756dup" "r.(?)" "p.(Pro253Alafs*24)" "" "0001040038" "00007251" "30" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Leu362=)" "" "0001040039" "00007251" "50" "949" "0" "949" "0" "c.949C>G" "r.(?)" "p.(Pro317Ala)" "" "0001046475" "00007251" "50" "3616" "0" "3633" "0" "c.*2128_*2145del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000104480" "0000169329" "0000249295" "0000578046" "0000262050" "0000592185" "0000262051" "0000592186" "0000262052" "0000592187" "0000262053" "0000592188"