### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SRD5A2) # 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}}" "SRD5A2" "steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)" "2" "p23.1" "unknown" "NG_008365.1" "UD_132118315440" "" "https://www.LOVD.nl/SRD5A2" "" "1" "11285" "6716" "607306" "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/SRD5A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-09 18:25:41" "00000" "2024-02-02 14:51:03" ## 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}}" "00020276" "SRD5A2" "steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)" "001" "NM_000348.3" "" "NP_000339.2" "" "" "" "-71" "2374" "764" "31806040" "31749656" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02033" "PPSH" "hypospadias, perineoscrotal, pseudovaginal (PPSH)" "AR" "264600" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "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}}" "SRD5A2" "02033" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00181096" "" "" "" "1" "" "02572" "" "" "" "" "" "" "0" "" "" "" "" "00231420" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat18" "00231425" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat26" "00231426" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat30" "00231432" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat40" "00231433" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat41" "00231443" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat57" "00231447" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat64" "00231449" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat68" "00231455" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat75" "00231474" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat116" "00231475" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat117" "00231514" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat208" "00231525" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat232" "00231531" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat257" "00231554" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat154" "00231562" "" "" "" "2" "" "00006" "{PMID:Eggers 2016:27899157}" "family, 2 sibs" "M" "" "" "" "0" "" "" "" "Pat33" "00231563" "" "" "00231562" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "sib34" "M" "" "" "" "0" "" "" "" "Pat34" "00292724" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292725" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308690" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00380579" "" "" "" "1" "" "01164" "" "" "M" "likely" "India" "" "0" "" "" "" "183442" "00408088" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "90" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00181096" "02033" "00231420" "05597" "00231425" "05597" "00231426" "05597" "00231432" "05597" "00231433" "05597" "00231443" "05597" "00231447" "05597" "00231449" "05597" "00231455" "05597" "00231474" "05597" "00231475" "05597" "00231514" "05597" "00231525" "05597" "00231531" "05597" "00231554" "05597" "00231562" "05597" "00231563" "05597" "00292724" "00198" "00292725" "00198" "00308690" "00000" "00380579" "02033" "00408088" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02033, 04214, 05597 ## Count = 20 "{{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}}" "0000143699" "02033" "00181096" "02572" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173811" "05597" "00231420" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173816" "05597" "00231425" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173817" "05597" "00231426" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173823" "05597" "00231432" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173824" "05597" "00231433" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173834" "05597" "00231443" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173838" "05597" "00231447" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173840" "05597" "00231449" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173846" "05597" "00231455" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173865" "05597" "00231474" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173866" "05597" "00231475" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173905" "05597" "00231514" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173916" "05597" "00231525" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173922" "05597" "00231531" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173945" "05597" "00231554" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173953" "05597" "00231562" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173954" "05597" "00231563" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000274431" "02033" "00380579" "01164" "Familial, autosomal recessive" "42y" "Ambiguous genitalia, male, Scrotal hypoplasia, Hypoplastic male external genitalia, Abnormal external genitalia, External genital hypoplasia, Hypoplasia of penis, Abnormal reproductive system morphology, Family history (2 maternal uncles affected)" "" "" "" "" "" "" "" "" "" "" "" "0000300216" "04214" "00408088" "00000" "Familial, autosomal recessive" "9y" "9 years old boy with small testicles, micropenis, and right-side undescended testes that required orchidopexy at age of 4 years. His endocrine work up showed pre-pubertal gonadotropins and testosterone level. His parents were cousins and he had a similarly affected brother and healthy brother and sister." "" "" "" "" "" "" "" "" "5 alpha reductase deficiency" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000182048" "00181096" "1" "02572" "02572" "2018-09-26 12:12:36" "" "" "SEQ" "DNA" "blood" "" "0000232519" "00231420" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232524" "00231425" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232525" "00231426" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232531" "00231432" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232532" "00231433" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232542" "00231443" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232546" "00231447" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232548" "00231449" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232554" "00231455" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232573" "00231474" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232574" "00231475" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232613" "00231514" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232624" "00231525" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232630" "00231531" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232653" "00231554" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232661" "00231562" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232662" "00231563" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000293892" "00292724" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293893" "00292725" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309835" "00308690" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000381792" "00380579" "1" "01164" "01164" "2021-08-18 16:08:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000409343" "00408088" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000182048" "SRD5A2" "0000232519" "SRD5A2" "0000232524" "SRD5A2" "0000232525" "SRD5A2" "0000232531" "SRD5A2" "0000232532" "SRD5A2" "0000232542" "SRD5A2" "0000232546" "SRD5A2" "0000232548" "SRD5A2" "0000232554" "SRD5A2" "0000232573" "SRD5A2" "0000232574" "SRD5A2" "0000232613" "SRD5A2" "0000232624" "SRD5A2" "0000232630" "SRD5A2" "0000232653" "AR" "0000232653" "SRD5A2" "0000232661" "SRD5A2" "0000232662" "SRD5A2" "0000309835" "SRD5A2" "0000381792" "SRD5A2" "0000409343" "SRD5A2" ## 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 = 61 "{{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}}" "0000253762" "0" "10" "2" "31805674" "31805674" "subst" "0" "01943" "SRD5A2_000085" "g.31805674A>G" "" "" "" "SRD5A2(NM_000348.3):c.281+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000255837" "0" "50" "2" "31754478" "31754478" "subst" "0" "01943" "SRD5A2_000079" "g.31754478A>T" "" "" "" "SRD5A2(NM_000348.3):c.597T>A (p.I199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000311567" "0" "10" "2" "31805882" "31805882" "dup" "0" "02325" "SRD5A2_000086" "g.31805882dup" "" "" "" "SRD5A2(NM_000348.4):c.90dupC (p.S31Lfs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000314121" "0" "10" "2" "31754345" "31754345" "subst" "0.00130532" "02326" "SRD5A2_000073" "g.31754345G>A" "" "" "" "SRD5A2(NM_000348.3):c.698+32C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000315725" "0" "90" "2" "31805954" "31805954" "subst" "1.70783E-5" "01943" "SRD5A2_000088" "g.31805954G>A" "" "" "" "SRD5A2(NM_000348.3):c.16C>T (p.Q6*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31580885G>A" "" "pathogenic" "" "0000315727" "0" "90" "2" "31758740" "31758740" "subst" "0" "01943" "SRD5A2_000083" "g.31758740T>C" "" "" "" "SRD5A2(NM_000348.3):c.378A>G (p.Q126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000315730" "0" "90" "2" "31754467" "31754467" "subst" "0" "01943" "SRD5A2_000078" "g.31754467C>T" "" "" "" "SRD5A2(NM_000348.3):c.608G>A (p.G203D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000315733" "0" "90" "2" "31754383" "31754383" "subst" "0.000166713" "01943" "SRD5A2_000075" "g.31754383T>C" "" "" "" "SRD5A2(NM_000348.3):c.692A>G (p.H231R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000315735" "0" "90" "2" "31751293" "31751293" "subst" "0" "01943" "SRD5A2_000072" "g.31751293C>T" "" "" "" "SRD5A2(NM_000348.3):c.738G>A (p.R246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000315736" "0" "90" "2" "31805884" "31805891" "del" "0" "01943" "SRD5A2_000087" "g.31805884_31805891del" "" "" "" "SRD5A2(NM_000348.3):c.80_87delTCGCGAAG (p.V27Afs*106)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000342316" "0" "90" "2" "31754395" "31754395" "subst" "0.000443309" "02327" "SRD5A2_000089" "g.31754395C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000345485" "0" "50" "2" "31805801" "31805801" "subst" "0" "02327" "SRD5A2_000091" "g.31805801T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000350214" "0" "70" "2" "31805700" "31805700" "subst" "1.02829E-5" "02327" "SRD5A2_000090" "g.31805700A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000405868" "3" "50" "2" "31751307" "31751307" "subst" "0" "02572" "SRD5A2_000092" "g.31751307A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31526237A>T" "" "VUS" "" "0000475058" "3" "90" "2" "31756523" "31756523" "del" "0" "00006" "SRD5A2_000093" "g.31756523del" "" "{PMID:Eggers 2016:27899157}" "" "NM_000348:c.CA464C:p.L155fs" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "46,XY" "" "" "pathogenic" "" "0000475059" "3" "90" "2" "31754395" "31754395" "subst" "0.000443309" "00006" "SRD5A2_000076" "g.31754395C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.31529325C>T" "" "pathogenic" "" "0000475060" "3" "90" "2" "31805807" "31805807" "subst" "0" "00006" "SRD5A2_000097" "g.31805807A>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.31580737A>T" "" "pathogenic" "" "0000475061" "3" "90" "2" "31805871" "31805871" "del" "0" "00006" "SRD5A2_000098" "g.31805871del" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.31580801del" "" "pathogenic" "" "0000475062" "11" "90" "2" "31805871" "31805871" "del" "0" "00006" "SRD5A2_000098" "g.31805871del" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.31580801del" "" "pathogenic" "" "0000475063" "3" "90" "2" "31751293" "31751293" "subst" "0" "00006" "SRD5A2_000072" "g.31751293C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "46,XY" "" "" "pathogenic" "" "0000475064" "3" "90" "2" "31805890" "31805890" "subst" "0" "00006" "SRD5A2_000099" "g.31805890A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.31580821A>G" "" "pathogenic" "" "0000475065" "1" "90" "2" "31754454" "31754454" "subst" "0" "00006" "SRD5A2_000095" "g.31754454G>T" "" "{PMID:Eggers 2016:27899157}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "46,XY" "" "" "pathogenic" "" "0000475066" "3" "90" "2" "31754395" "31754395" "subst" "0.000443309" "00006" "SRD5A2_000076" "g.31754395C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "mother not analysed" "Germline" "" "" "0" "" "46,XY" "g.31529325C>T" "" "pathogenic" "" "0000475067" "3" "90" "2" "31754395" "31754395" "subst" "0.000443309" "00006" "SRD5A2_000076" "g.31754395C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "mother not analysed" "Germline" "" "" "0" "" "46,XY" "g.31529325C>T" "" "pathogenic" "" "0000475068" "3" "90" "2" "31754497" "31754497" "subst" "2.03482E-5" "00006" "SRD5A2_000080" "g.31754497T>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.31529427T>C" "" "pathogenic" "" "0000475069" "1" "50" "2" "31758836" "31758836" "subst" "0" "00006" "SRD5A2_000096" "g.31758836C>T" "" "{PMID:Eggers 2016:27899157}" "" "NM_000348c.G281A (R94Q)" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "46,XY" "" "" "VUS" "" "0000475070" "3" "90" "2" "31751293" "31751293" "subst" "0" "00006" "SRD5A2_000072" "g.31751293C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "46,XY" "" "" "pathogenic" "" "0000475071" "3" "90" "2" "31754383" "31754383" "subst" "0.000166713" "00006" "SRD5A2_000074" "g.31754383T>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.31529313T>C" "" "pathogenic" "" "0000475072" "3" "90" "2" "31754383" "31754383" "subst" "0.000166713" "00006" "SRD5A2_000074" "g.31754383T>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.31529313T>C" "" "pathogenic" "" "0000475073" "21" "90" "2" "31751293" "31751293" "subst" "0" "00006" "SRD5A2_000072" "g.31751293C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "46,XY" "" "" "pathogenic" "" "0000475074" "0" "90" "2" "31758740" "31758740" "subst" "0" "00006" "SRD5A2_000083" "g.31758740T>C" "" "{PMID:Eggers 2016:27899157}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "46,XY" "" "" "pathogenic" "" "0000475075" "3" "90" "2" "31751293" "31751293" "subst" "0" "00006" "SRD5A2_000072" "g.31751293C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "46,XY" "" "" "pathogenic" "" "0000475076" "1" "90" "2" "31756446" "31756446" "subst" "0" "00006" "SRD5A2_000094" "g.31756446G>A" "" "{PMID:Eggers 2016:27899157}" "" "NM_000348:c.G541A (P181L)" "variant description correct?" "Germline" "" "" "0" "" "46,XY" "g.31531376G>A" "" "pathogenic" "" "0000515685" "0" "10" "2" "31751174" "31751175" "ins" "0" "02326" "SRD5A2_000100" "g.31751174_31751175insATATATATATATATATAT" "" "" "" "SRD5A2(NM_000348.3):c.*91_*92insATATATATATATATATAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31526104_31526105insATATATATATATATATAT" "" "benign" "" "0000515686" "0" "90" "2" "31754383" "31754383" "subst" "0.000166713" "02329" "SRD5A2_000075" "g.31754383T>C" "" "" "" "SRD5A2(NM_000348.3):c.692A>G (p.H231R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000515687" "0" "90" "2" "31754488" "31754488" "subst" "0" "01943" "SRD5A2_000101" "g.31754488C>T" "" "" "" "SRD5A2(NM_000348.3):c.587G>A (p.G196D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000515688" "0" "70" "2" "31754489" "31754489" "subst" "0.000138394" "02329" "SRD5A2_000102" "g.31754489C>T" "" "" "" "SRD5A2(NM_000348.3):c.586G>A (p.G196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000515689" "0" "90" "2" "31756440" "31756440" "subst" "0" "01943" "SRD5A2_000103" "g.31756440C>T" "" "" "" "SRD5A2(NM_000348.3):c.547+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000515690" "0" "10" "2" "31756643" "31756644" "ins" "0" "02326" "SRD5A2_000104" "g.31756643_31756644insCCAAAAAATGAAGGGAAGGGCATTTAATT" "" "" "" "SRD5A2(NM_000348.3):c.446-89_446-88insTCCCTTCATTTTTTGGAATTAAATGCCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000515691" "0" "90" "2" "31758741" "31758741" "subst" "8.17483E-5" "02327" "SRD5A2_000105" "g.31758741T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000515692" "0" "10" "2" "31805675" "31805675" "subst" "0.644646" "02327" "SRD5A2_000106" "g.31805675A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000515693" "0" "10" "2" "31805706" "31805706" "subst" "0.658573" "02327" "SRD5A2_000107" "g.31805706G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000515694" "0" "10" "2" "31806031" "31806031" "subst" "0" "02327" "SRD5A2_000108" "g.31806031C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31580962C>G" "" "benign" "" "0000607903" "0" "50" "2" "31751329" "31751329" "subst" "0.00039797" "02327" "SRD5A2_000109" "g.31751329G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000607904" "0" "10" "2" "31805826" "31805826" "subst" "0.0174138" "01943" "SRD5A2_000111" "g.31805826C>T" "" "" "" "SRD5A2(NM_000348.3):c.145G>A (p.A49T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000621031" "0" "30" "2" "31754370" "31754370" "subst" "0.000581726" "01943" "SRD5A2_000110" "g.31754370A>C" "" "" "" "SRD5A2(NM_000348.3):c.698+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000650581" "1" "50" "2" "31751297" "31751297" "subst" "0.000217517" "03575" "SRD5A2_000112" "g.31751297G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs145712014}\r\nVariant Error EMISMATCH/EREF: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs145712014" "0" "" "" "g.31526227G>T" "" "VUS" "" "0000650582" "1" "10" "2" "31754481" "31754481" "subst" "0.00279923" "03575" "SRD5A2_000113" "g.31754481G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs28383064}\r\nVariant Error EMISMATCH/EREF: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs28383064" "0" "" "" "g.31529411G>A" "" "benign" "" "0000684737" "0" "30" "2" "31754394" "31754394" "subst" "0" "00004" "SRD5A2_000076" "g.31754394C>T" "frequency 0.014" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.31529325C>T" "" "likely benign" "" "0000688745" "0" "30" "2" "31805761" "31805761" "subst" "0.000196121" "01943" "SRD5A2_000114" "g.31805761C>T" "" "" "" "SRD5A2(NM_000348.3):c.210G>A (p.R70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000795355" "3" "70" "2" "31754452" "31754452" "subst" "0" "01164" "SRD5A2_000115" "g.31754452G>A" "" "" "" "" "ACMG: PM1, PM3, PS4_SUP, PM2_SUP, PP4" "Germline" "yes" "" "0" "" "" "g.31529382G>A" "RCV000548299" "likely pathogenic (recessive)" "ACMG" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000846497" "3" "70" "2" "31758764" "31758764" "subst" "0" "00000" "SRD5A2_000116" "g.31758764G>T" "" "{PMID:Alabdullatif 2017:27717089}" "" "SRD5A2 c.354C>A, (p.Phe118Leu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.31533694G>T" "" "likely pathogenic" "" "0000858505" "0" "90" "2" "31751294" "31751294" "subst" "0.000222975" "01943" "SRD5A2_000072" "g.31751294C>T" "" "" "" "SRD5A2(NM_000348.3):c.737G>A (p.R246Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858506" "0" "90" "2" "31754468" "31754468" "subst" "8.13683E-5" "01943" "SRD5A2_000117" "g.31754468C>T" "" "" "" "SRD5A2(NM_000348.3):c.607G>A (p.G203S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858507" "0" "50" "2" "31756475" "31756475" "subst" "1.84435E-5" "01943" "SRD5A2_000118" "g.31756475C>G" "" "" "" "SRD5A2(NM_000348.3):c.513G>C (p.R171S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000878732" "0" "70" "2" "31758700" "31758700" "subst" "0" "03779" "SRD5A2_000119" "g.31758700A>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000923683" "0" "90" "2" "31751327" "31751327" "subst" "0" "02326" "SRD5A2_000120" "g.31751327T>A" "" "" "" "SRD5A2(NM_000348.3):c.704A>T (p.Y235F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923684" "0" "90" "2" "31754497" "31754497" "subst" "2.03482E-5" "02326" "SRD5A2_000080" "g.31754497T>C" "" "" "" "SRD5A2(NM_000348.3):c.578A>G (p.N193S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000959720" "0" "90" "2" "31758811" "31758811" "subst" "2.17831E-5" "03779" "SRD5A2_000121" "g.31758811G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs267599353" "0" "" "" "" "" "pathogenic" "" "0000992810" "0" "90" "2" "31758838" "31758838" "subst" "0" "02329" "SRD5A2_000122" "g.31758838T>C" "" "" "" "SRD5A2(NM_000348.3):c.282-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 SRD5A2 ## Count = 61 "{{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}}" "0000253762" "00020276" "10" "281" "16" "281" "16" "c.281+16T>C" "r.(=)" "p.(=)" "" "0000255837" "00020276" "50" "597" "0" "597" "0" "c.597T>A" "r.(?)" "p.(Ile199=)" "" "0000311567" "00020276" "10" "86" "0" "90" "0" "c.86_90=" "r.(=)" "p.(Lys29=)" "" "0000314121" "00020276" "10" "698" "32" "698" "32" "c.698+32C>T" "r.(=)" "p.(=)" "" "0000315725" "00020276" "90" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Gln6Ter)" "" "0000315727" "00020276" "90" "378" "0" "378" "0" "c.378A>G" "r.(?)" "p.(Gln126=)" "" "0000315730" "00020276" "90" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Gly203Asp)" "" "0000315733" "00020276" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(His231Arg)" "" "0000315735" "00020276" "90" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Arg246=)" "" "0000315736" "00020276" "90" "80" "0" "88" "0" "c.80_88del" "r.(?)" "p.(Val27_Pro30delinsAla)" "" "0000342316" "00020276" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Gln)" "" "0000345485" "00020276" "50" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(Glu57Gly)" "" "0000350214" "00020276" "70" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Tyr91His)" "" "0000405868" "00020276" "50" "724" "0" "724" "0" "c.724T>A" "r.(?)" "p.(Tyr242Asn)" "5" "0000475058" "00020276" "90" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Leu155Trpfs*5)" "" "0000475059" "00020276" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Gln)" "" "0000475060" "00020276" "90" "164" "0" "164" "0" "c.164T>A" "r.(?)" "p.(Leu55Gln)" "" "0000475061" "00020276" "90" "102" "0" "102" "0" "c.102del" "r.(?)" "p.(Lys35Serfs*6)" "" "0000475062" "00020276" "90" "102" "0" "102" "0" "c.102del" "r.(?)" "p.(Lys35Serfs*6)" "" "0000475063" "00020276" "90" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246Gln)" "" "0000475064" "00020276" "90" "80" "0" "80" "0" "c.80T>C" "r.spl?" "p.(Val27fs)" "" "0000475065" "00020276" "90" "620" "0" "620" "0" "c.620C>A" "r.?" "p.(Ala207Asp)" "" "0000475066" "00020276" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Gln)" "" "0000475067" "00020276" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Gln)" "" "0000475068" "00020276" "90" "578" "0" "578" "0" "c.578A>G" "r.(?)" "p.(Asn193Ser)" "" "0000475069" "00020276" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94Lys)" "" "0000475070" "00020276" "90" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246Gln)" "" "0000475071" "00020276" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(His231Arg)" "" "0000475072" "00020276" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(His231Arg)" "" "0000475073" "00020276" "90" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246Gln)" "" "0000475074" "00020276" "90" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Gln126Arg)" "" "0000475075" "00020276" "90" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246Gln)" "" "0000475076" "00020276" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Pro181Leu)" "" "0000515685" "00020276" "10" "855" "0" "856" "0" "c.*91_*92insATATATATATATATATAT" "r.(=)" "p.(=)" "" "0000515686" "00020276" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(His231Arg)" "" "0000515687" "00020276" "90" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Gly196Asp)" "" "0000515688" "00020276" "70" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Gly196Ser)" "" "0000515689" "00020276" "90" "547" "1" "547" "1" "c.547+1G>A" "r.spl?" "p.?" "" "0000515690" "00020276" "10" "446" "-90" "446" "-89" "c.446-90_446-89insTTCCCTTCATTTTTTGGAATTAAATGCCC" "r.(=)" "p.(=)" "" "0000515691" "00020276" "90" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Gln126Arg)" "" "0000515692" "00020276" "10" "281" "15" "281" "15" "c.281+15T>C" "r.(=)" "p.(=)" "" "0000515693" "00020276" "10" "265" "0" "265" "0" "c.265C>G" "r.(?)" "p.(Leu89Val)" "" "0000515694" "00020276" "10" "-62" "0" "-62" "0" "c.-62G>C" "r.(?)" "p.(=)" "" "0000607903" "00020276" "50" "702" "0" "702" "0" "c.702C>G" "r.(?)" "p.(Phe234Leu)" "" "0000607904" "00020276" "10" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Ala49Thr)" "" "0000621031" "00020276" "30" "698" "7" "698" "7" "c.698+7T>G" "r.(=)" "p.(=)" "" "0000650581" "00020276" "50" "733" "0" "733" "0" "c.733C>A" "" "p.?" "" "0000650582" "00020276" "10" "593" "0" "593" "0" "c.593C>T" "" "p.?" "" "0000684737" "00020276" "30" "680" "0" "680" "0" "c.680G>A" "" "" "" "0000688745" "00020276" "30" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(Arg70=)" "" "0000795355" "00020276" "70" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Thr208Ile)" "" "0000829418" "00020276" "50" "-8388608" "0" "4151622" "0" "c.-30275212_*4150858dup" "r.0?" "p.0?" "" "0000846497" "00020276" "70" "354" "0" "354" "0" "c.354C>A" "r.(?)" "p.(Phe118Leu)" "" "0000858505" "00020276" "90" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246Gln)" "" "0000858506" "00020276" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Ser)" "" "0000858507" "00020276" "50" "513" "0" "513" "0" "c.513G>C" "r.(?)" "p.(Arg171Ser)" "" "0000878732" "00020276" "70" "418" "0" "418" "0" "c.418T>G" "r.(?)" "p.(Trp140Gly)" "" "0000923683" "00020276" "90" "704" "0" "704" "0" "c.704A>T" "r.(?)" "p.(Tyr235Phe)" "" "0000923684" "00020276" "90" "578" "0" "578" "0" "c.578A>G" "r.(?)" "p.(Asn193Ser)" "" "0000959720" "00020276" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Ter)" "" "0000992810" "00020276" "90" "281" "-2" "281" "-2" "c.281-2A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000182048" "0000405868" "0000232519" "0000475076" "0000232524" "0000475058" "0000232525" "0000475059" "0000232531" "0000475060" "0000232532" "0000475061" "0000232542" "0000475062" "0000232542" "0000475073" "0000232546" "0000475063" "0000232548" "0000475064" "0000232554" "0000475065" "0000232554" "0000475074" "0000232573" "0000475066" "0000232574" "0000475067" "0000232613" "0000475068" "0000232624" "0000475069" "0000232630" "0000475070" "0000232653" "0000475075" "0000232661" "0000475071" "0000232662" "0000475072" "0000293892" "0000650581" "0000293893" "0000650582" "0000309835" "0000684737" "0000381792" "0000795355" "0000409343" "0000846497"