### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FGF23) # 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}}" "FGF23" "fibroblast growth factor 23" "12" "p13" "unknown" "NG_007087.1" "UD_132118679035" "" "https://www.LOVD.nl/FGF23" "" "1" "3680" "8074" "605380" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FGF23_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-29 12:51:42" "00000" "2025-11-01 13:22:20" ## 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}}" "00007929" "FGF23" "fibroblast growth factor 23" "001" "NM_020638.2" "" "NP_065689.1" "" "" "" "-146" "2872" "756" "4488894" "4477393" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01599" "ADHR" "rickets, hypophosphatemic, autosomal dominant (ADHR)" "AD" "193100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02241" "XLHR" "rickets, hypophosphatemic, X-linked dominant (XLHR)" "XLD" "307800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04472" "HFTC" "calcinosis, tumoral, hyperphosphatemic, familial (HFTC)" "AR" "211900" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "06183" "HFTC2" "Tumoral calcinosis, hyperphosphatemic, familial, 2" "" "617993" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "FGF23" "01599" "FGF23" "04472" "FGF23" "06183" "FGF23" "06886" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00393401" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam32" "00393406" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam34" "00393410" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam22" "00393414" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam39" "00393421" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam47" "00393422" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam13" "00393425" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam2" "00396999" "" "" "" "1" "" "00006" "{PMID:Guven 2017:28383812}" "daughter" "F" "" "Turkey" "" "0" "" "" "" "FamVIPat3" "00397280" "" "" "" "2" "" "00006" "{PMID:Obara-Moszynska 2020:33295632}" "2-generation family, affeced father/daughter" "F" "" "Poland" "" "0" "" "" "" "Pat1" "00397501" "" "" "" "1" "" "00006" "{PMID:Jorgensen 2019:31903094}" "" "F" "" "Denmark" "" "0" "" "" "" "Pat7" "00401548" "" "" "" "1" "" "00006" "{PMID:McKenna 2019:30238432}" "" "M" "" "Ireland" "" "0" "" "" "" "Pat24" "00401549" "" "" "" "1" "" "00006" "{PMID:McKenna 2019:30238432}" "" "F" "" "Ireland" "" "0" "" "" "" "Pat25" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00393401" "02241" "00393406" "02241" "00393410" "02241" "00393414" "02241" "00393421" "01599" "00393422" "00198" "00393425" "00198" "00396999" "02241" "00397280" "06886" "00397501" "06886" "00401548" "06886" "00401549" "06886" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01599, 02241, 04472, 06183, 06886 ## Count = 6 "{{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}}" "0000286635" "01599" "00393421" "00006" "Isolated (sporadic)" "" "1y-lower extremity bowing" "" "" "" "" "" "" "" "" "ADHR" "hypophosphatemic rickets" "" "0000290154" "02241" "00396999" "00006" "Isolated (sporadic)" "2y6m" "see paper; ..., bowed legs" "" "" "" "" "" "" "" "" "" "hypophosphatemic rickets" "" "0000290433" "06886" "00397280" "00006" "Familial, X-linked dominant" "9y7m" "bowing lower limbs, short stature; no ear problems; no dental problems" "" "2y3m" "" "" "" "" "" "" "XLHR" "hypophosphatemic rickets" "" "0000290633" "06886" "00397501" "00006" "Familial, autosomal dominant" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "ADHR" "" "" "0000294340" "06886" "00401548" "00006" "Familial, autosomal dominant" "18y" "see paper; ..., height 173cm, BMI 44kg/m" "" "" "" "" "" "" "" "" "ADHR" "hypophosphataemia" "" "0000294341" "06886" "00401549" "00006" "Familial, autosomal dominant" "32y" "see paper; ..., height 158cm, BMI 21.2 kg/m" "" "" "" "" "" "" "" "" "ADHR" "hypophosphataemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000394649" "00393401" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394654" "00393406" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394658" "00393410" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394662" "00393414" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394669" "00393421" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394670" "00393422" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394673" "00393425" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000398240" "00396999" "1" "00006" "00006" "2021-12-18 16:55:52" "" "" "SEQ" "DNA" "" "" "0000398520" "00397280" "1" "00006" "00006" "2021-12-20 11:46:08" "" "" "SEQ" "DNA" "" "" "0000398741" "00397501" "1" "00006" "00006" "2021-12-22 15:06:37" "" "" "SEQ" "DNA" "" "" "0000402791" "00401548" "1" "00006" "00006" "2022-01-31 17:18:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000402792" "00401549" "1" "00006" "00006" "2022-01-31 17:18:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000398240" "FGF23" "0000398520" "PHEX" "0000398741" "FGF23" "0000402791" "FGF23" "0000402792" "FGF23" ## 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 = 24 "{{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}}" "0000249662" "0" "90" "12" "4481788" "4481788" "subst" "0" "02325" "FGF23_000002" "g.4481788A>G" "" "" "" "FGF23(NM_020638.3):c.287T>C (p.M96T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4372622A>G" "" "pathogenic" "" "0000280776" "0" "90" "12" "4479916" "4479917" "del" "0" "02325" "FGF23_000001" "g.4479916_4479917del" "" "" "" "FGF23(NM_020638.3):c.350_351delAC (p.H117Pfs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4370750_4370751del" "" "pathogenic" "" "0000283920" "0" "10" "12" "4488384" "4488385" "del" "0" "02326" "FGF23_000003" "g.4488384_4488385del" "" "" "" "FGF23(NM_020638.3):c.211+169_211+170delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4379218_4379219del" "" "benign" "" "0000283921" "0" "10" "12" "4488502" "4488502" "subst" "0.00632064" "02326" "FGF23_000004" "g.4488502G>T" "" "" "" "FGF23(NM_020638.3):c.211+36C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4379336G>T" "" "benign" "" "0000347920" "0" "90" "12" "4481788" "4481788" "subst" "0" "02327" "FGF23_000002" "g.4481788A>G" "" "" "" "FGF23(NM_020638.3):c.287T>C (p.M96T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4372622A>G" "" "pathogenic" "" "0000679526" "0" "10" "12" "4479549" "4479549" "subst" "0.128334" "02327" "FGF23_000005" "g.4479549G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000825621" "0" "90" "12" "4479730" "4479730" "subst" "0" "00006" "FGF23_000006" "g.4479730G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs28937882" "0" "" "" "g.4370564G>A" "" "pathogenic" "" "0000825622" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825625" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825635" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825638" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825639" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825640" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000830449" "0" "90" "12" "4479739" "4479739" "subst" "0" "00006" "FGF23_000007" "g.4479739G>C" "" "{PMID:Guven 2017:28383812}" "" "" "" "De novo" "" "" "0" "" "" "g.4370573G>C" "" "pathogenic (dominant)" "" "0000830743" "20" "10" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Obara-Moszynska 2020:33295632}" "" "C716>T" "" "Germline" "" "rs7955866" "0" "" "" "" "" "benign" "" "0000830971" "0" "90" "12" "4479729" "4479729" "subst" "4.08213E-6" "00006" "FGF23_000008" "g.4479729C>T" "" "{PMID:Jorgensen 2019:31903094}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000837024" "0" "90" "12" "4479739" "4479739" "subst" "0" "00006" "FGF23_000007" "g.4479739G>C" "1/374 cases NF" "{PMID:McKenna 2019:30238432}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.4370573G>C" "" "pathogenic (dominant)" "" "0000837025" "0" "90" "12" "4479730" "4479730" "subst" "0" "00006" "FGF23_000006" "g.4479730G>A" "1/374 cases NF" "{PMID:McKenna 2019:30238432}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.4370564G>A" "" "pathogenic (dominant)" "" "0000949944" "0" "50" "12" "4488703" "4488703" "subst" "2.46255E-5" "01804" "FGF23_000009" "g.4488703C>T" "" "" "" "FGF23(NM_020638.2):c.46G>A (p.(Val16Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026179" "0" "90" "12" "4479729" "4479729" "subst" "4.08213E-6" "02325" "FGF23_000008" "g.4479729C>T" "" "" "" "FGF23(NM_020638.3):c.536G>A (p.R179Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039220" "0" "30" "12" "4479660" "4479660" "subst" "6.19681E-5" "01804" "FGF23_000010" "g.4479660G>A" "" "" "" "FGF23(NM_020638.3):c.605C>T (p.(Ala202Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039221" "0" "30" "12" "4481866" "4481866" "subst" "0" "01804" "FGF23_000011" "g.4481866A>T" "" "" "" "FGF23(NM_020638.3):c.212-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039222" "0" "50" "12" "4488692" "4488692" "subst" "8.18009E-6" "01804" "FGF23_000012" "g.4488692C>T" "" "" "" "FGF23(NM_020638.3):c.57G>A (p.(Met19Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054207" "0" "50" "12" "4488661" "4488661" "subst" "7.74814E-5" "01804" "FGF23_000013" "g.4488661G>A" "" "" "" "FGF23(NM_020638.3):c.88C>T (p.(Pro30Ser))" "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 FGF23 ## Count = 24 "{{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}}" "0000249662" "00007929" "90" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Met96Thr)" "" "0000280776" "00007929" "90" "350" "0" "351" "0" "c.350_351del" "r.(?)" "p.(His117ProfsTer105)" "" "0000283920" "00007929" "10" "211" "169" "211" "170" "c.211+169_211+170del" "r.(=)" "p.(=)" "" "0000283921" "00007929" "10" "211" "36" "211" "36" "c.211+36C>A" "r.(=)" "p.(=)" "" "0000347920" "00007929" "90" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Met96Thr)" "" "0000679526" "00007929" "10" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825621" "00007929" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "3" "0000825622" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825625" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825635" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825638" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825639" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825640" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000830449" "00007929" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Arg176Gly)" "3" "0000830743" "00007929" "10" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "3" "0000830971" "00007929" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Gln)" "" "0000837024" "00007929" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Arg176Gly)" "3" "0000837025" "00007929" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "3" "0000949944" "00007929" "50" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Val16Ile)" "" "0001026179" "00007929" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Gln)" "" "0001039220" "00007929" "30" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "" "0001039221" "00007929" "30" "212" "-3" "212" "-3" "c.212-3T>A" "r.spl?" "p.?" "" "0001039222" "00007929" "50" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Met19Ile)" "" "0001054207" "00007929" "50" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Pro30Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000394649" "0000825635" "0000394654" "0000825638" "0000394658" "0000825639" "0000394662" "0000825640" "0000394669" "0000825621" "0000394670" "0000825622" "0000394673" "0000825625" "0000398240" "0000830449" "0000398520" "0000830743" "0000398741" "0000830971" "0000402791" "0000837024" "0000402792" "0000837025"