### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FGF8) # 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}}" "FGF8" "fibroblast growth factor 8 (androgen-induced)" "10" "q25-q26" "unknown" "NG_007151.1" "UD_132119142006" "" "https://www.LOVD.nl/FGF8" "" "1" "3686" "2253" "600483" "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/FGF8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-11 13:28:26" "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}}" "00025636" "FGF8" "transcript variant F" "005" "NM_033163.3" "" "NP_149353.1" "" "" "" "-102" "934" "735" "103535759" "103529887" "00006" "2021-10-05 19:12:26" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03180" "HH6" "hypogonadotropic hypogonadism, type 6 with/without anosmia (HH6)" "AD" "612702" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-05 19:09:49" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05586" "OFC" "cleft, orofacial (OFC)" "" "" "" "" "" "00006" "2019-03-29 16:06:15" "" "" "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}}" "FGF8" "03180" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00231457" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat77" "00289981" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316120" "" "" "" "3" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient, 1st degree relative and uncle/aunt/cousin" "" "" "France" "" "0" "" "" "" "K173" "00384960" "" "" "" "2" "" "00006" "{PMID:Socha 2021:34433009}" "3-generation family, affected mother/daugther" "F" "" "" "" "0" "" "" "" "Fam1PatII2/III1" "00384962" "" "" "" "3" "" "00006" "{PMID:Socha 2021:34433009}" "3-generation family, affected mother and 2 fetuses" "F" "" "" "" "0" "" "" "" "Fam2PatII3/III1/2" "00426637" "" "" "" "1" "" "00000" "{PMID:Peng 2016:27527345}" "" "" "" "Taiwan" "" "0" "" "" "Taiwanese" "?" "00426638" "" "" "" "1" "" "00000" "{PMID:Peng 2016:27527345}" "" "" "" "Taiwan" "" "0" "" "" "Taiwanese" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00231457" "05597" "00289981" "00198" "00316120" "05342" "00384960" "00198" "00384962" "00198" "00426637" "05586" "00426638" "05586" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03180, 05342, 05586, 05597 ## 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}}" "0000173848" "05597" "00231457" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000239867" "05342" "00316120" "00006" "Unknown" "" "renal hypoplasia; renal dysplasia; cysts; hypomagnesemia" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000278742" "00198" "00384960" "00006" "Familial, autosomal dominant" "" "isolated bilateral congenital lower limb malformation, extremely short and hypoplastic femoral bones, moderate hypoplasia pelvic bone structures, normal psychomotor development, no other associated abnormalities" "" "" "" "" "" "" "" "" "" "femoral hypoplasia" "" "0000278743" "00198" "00384962" "00006" "Familial, autosomal dominant" "" "bilateral femoral hypoplasia, bilateral pelvic hypoplasia, anarrow pelvis, normal psychomotor development; see paper ..., two pregnancies prenatal ultrasound fetuses revealed developmental abnormalities, short lower limbs" "" "" "" "" "" "" "" "" "" "femoral hypoplasia" "" "0000317789" "05586" "00426637" "00000" "Unknown" "" "left cleft lip" "" "" "" "" "" "" "" "" "nonsyndromic orofacial cleft" "" "" "0000317790" "05586" "00426638" "00000" "Unknown" "" "left cleft lip" "" "" "" "" "" "" "" "" "nonsyndromic orofacial cleft" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232556" "00231457" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000291149" "00289981" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317302" "00316120" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000386187" "00384960" "1" "00006" "00006" "2021-10-05 19:05:36" "" "" "arrayCGH;PCRlr;SEQ;SEQ-NG" "DNA" "" "" "0000386188" "00384962" "1" "00006" "00006" "2021-10-05 19:05:36" "" "" "arrayCGH;PCRlr;SEQ;SEQ-NG" "DNA" "" "" "0000427955" "00426637" "1" "00000" "03840" "2022-12-02 10:07:08" "" "" "SEQ-NG;SEQ" "DNA" "" "next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study" "0000427956" "00426638" "1" "00000" "03840" "2022-12-02 10:07:08" "" "" "SEQ-NG;SEQ" "DNA" "" "next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000232556" "FGF8" "0000317302" "FAT3" "0000317302" "FGF8" "0000317302" "SLC6A18" "0000427955" "FGF8" "0000427956" "FGF8" ## 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 = 28 "{{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}}" "0000283922" "0" "10" "10" "103530438" "103530438" "subst" "0" "02326" "FGF8_000002" "g.103530438C>T" "" "" "" "FGF8(NM_033163.4):c.445-62G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101770681C>T" "" "benign" "" "0000287386" "0" "50" "10" "103530121" "103530121" "subst" "0" "01943" "FGF8_000001" "g.103530121C>T" "" "" "" "FGF8(NM_033163.3):c.700G>A (p.G234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101770364C>T" "" "VUS" "" "0000287387" "0" "50" "10" "103534966" "103534966" "subst" "0.00116049" "01943" "FGF8_000003" "g.103534966G>A" "" "" "" "FGF8(NM_001206389.1):c.-123-330C>T (p.(=)), FGF8(NM_033163.3):c.77C>T (p.P26L), FGF8(NM_033164.4):c.77C>T (p.P26L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101775209G>A" "" "VUS" "" "0000341821" "0" "90" "10" "103531285" "103531285" "subst" "0" "02327" "FGF8_000004" "g.103531285G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101771528G>A" "" "pathogenic" "" "0000474983" "1" "50" "10" "103534966" "103534966" "subst" "0.00116049" "00006" "FGF8_000003" "g.103534966G>A" "" "{PMID:Eggers 2016:27899157}" "" "NM_033163:c.C77T (P26L)" "" "Germline" "" "" "0" "" "46,XY" "g.101775209G>A" "" "VUS" "" "0000538936" "0" "30" "10" "103534948" "103534965" "dup" "0" "02330" "FGF8_000005" "g.103534948_103534965dup" "" "" "" "FGF8(NM_001206389.1):c.-123-321_-123-304dup (p.(=)), FGF8(NM_033163.3):c.86_103dupGCCCTGCGCTGGGCAGGG (p.G29_R34dup), FGF8(NM_033163.4):c.86_103dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101775191_101775208dup" "" "likely benign" "" "0000538937" "0" "50" "10" "103534948" "103534965" "dup" "0" "01943" "FGF8_000005" "g.103534948_103534965dup" "" "" "" "FGF8(NM_001206389.1):c.-123-321_-123-304dup (p.(=)), FGF8(NM_033163.3):c.86_103dupGCCCTGCGCTGGGCAGGG (p.G29_R34dup), FGF8(NM_033163.4):c.86_103dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101775191_101775208dup" "" "VUS" "" "0000538938" "0" "30" "10" "103534966" "103534966" "subst" "0.00116049" "01804" "FGF8_000003" "g.103534966G>A" "" "" "" "FGF8(NM_001206389.1):c.-123-330C>T (p.(=)), FGF8(NM_033163.3):c.77C>T (p.P26L), FGF8(NM_033164.4):c.77C>T (p.P26L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101775209G>A" "" "likely benign" "" "0000538939" "0" "10" "10" "103535615" "103535615" "subst" "0.000891048" "02330" "FGF8_000007" "g.103535615G>A" "" "" "" "FGF8(NM_033163.5):c.32+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101775858G>A" "" "benign" "" "0000538940" "0" "30" "10" "103541595" "103541595" "subst" "0.000259888" "01804" "FGF8_000008" "g.103541595A>T" "" "" "" "NPM3(NM_006993.2):c.435T>A (p.(Asp145Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101781838A>T" "" "likely benign" "" "0000612238" "0" "10" "10" "103531201" "103531201" "subst" "0.0131655" "02330" "FGF8_000010" "g.103531201C>T" "" "" "" "FGF8(NM_033163.5):c.444+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101771444C>T" "" "benign" "" "0000612239" "0" "70" "10" "103531279" "103531279" "subst" "4.06081E-6" "02327" "FGF8_000012" "g.103531279G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101771522G>A" "" "likely pathogenic" "" "0000622313" "0" "30" "10" "103531232" "103531232" "subst" "9.34033E-5" "01943" "FGF8_000011" "g.103531232C>T" "" "" "" "FGF8(NM_033163.3):c.432G>A (p.K144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101771475C>T" "" "likely benign" "" "0000647838" "1" "50" "10" "103530135" "103530135" "subst" "0.000256956" "03575" "FGF8_000013" "g.103530135G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs137852664}" "Germline" "" "rs137852664" "0" "" "" "g.101770378G>A" "" "VUS" "" "0000690635" "0" "30" "10" "103534966" "103534966" "subst" "0.00116049" "02330" "FGF8_000003" "g.103534966G>A" "" "" "" "FGF8(NM_001206389.1):c.-123-330C>T (p.(=)), FGF8(NM_033163.3):c.77C>T (p.P26L), FGF8(NM_033164.4):c.77C>T (p.P26L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699826" "0" "50" "10" "103531303" "103531303" "subst" "0" "00006" "FGF8_000015" "g.103531303T>A^103531304C>G" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000722643" "0" "10" "10" "103530239" "103530239" "subst" "0.00130273" "02330" "FGF8_000014" "g.103530239C>T" "" "" "" "FGF8(NM_033163.4):c.582G>A (p.T194=), FGF8(NM_033164.4):c.549G>A (p.T183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722644" "0" "30" "10" "103530239" "103530239" "subst" "0.00130273" "02326" "FGF8_000014" "g.103530239C>T" "" "" "" "FGF8(NM_033163.4):c.582G>A (p.T194=), FGF8(NM_033164.4):c.549G>A (p.T183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804271" "0" "30" "10" "103534948" "103534965" "dup" "0" "02326" "FGF8_000005" "g.103534948_103534965dup" "" "" "" "FGF8(NM_001206389.1):c.-123-321_-123-304dup (p.(=)), FGF8(NM_033163.3):c.86_103dupGCCCTGCGCTGGGCAGGG (p.G29_R34dup), FGF8(NM_033163.4):c.86_103dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000813591" "21" "90" "10" "103012761" "103546704" "dup" "0" "00006" "FGF8_000016" "g.103012761_103546704dup" "" "{PMID:Socha 2021:34433009}" "" "" "duplication includes BTRC, POLL, DPCD, FBXW4, FGF8 and NPM3; increased expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000813592" "21" "90" "10" "103001852" "103543913" "dup" "0" "00006" "FGF8_000017" "g.103001852_103543913dup" "" "{PMID:Socha 2021:34433009}" "" "" "duplication includes BTRC, POLL, DPCD, FBXW4, FGF8 and NPM3; increased expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000861795" "0" "30" "10" "103534948" "103534965" "dup" "0" "01804" "FGF8_000005" "g.103534948_103534965dup" "" "" "" "FGF8(NM_001206389.1):c.-123-321_-123-304dup (p.(=)), FGF8(NM_033163.3):c.86_103dupGCCCTGCGCTGGGCAGGG (p.G29_R34dup), FGF8(NM_033163.4):c.86_103dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888965" "0" "50" "10" "103531238" "103531238" "subst" "0" "02326" "FGF8_000018" "g.103531238C>G" "" "" "" "FGF8(NM_033163.4):c.426G>C (p.K142N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905526" "0" "50" "10" "103530259" "103530259" "subst" "0" "00000" "FGF8_000020" "g.103530259G>A" "1/103 cases" "{PMID:Peng 2016:27527345}" "" "FGF8 c.475C>T, p.P84S" "risk factor; different transcript: NM_001206389.1(FGF8):c.250C>T is NM_006119.4(FGF8):c.475C>T" "Unknown" "?" "" "0" "" "" "g.101770502G>A" "" "association" "" "0000905527" "0" "50" "10" "103530258" "103530258" "subst" "0" "00000" "FGF8_000019" "g.103530258G>A" "1/103 cases" "{PMID:Peng 2016:27527345}" "" "FGF8 c.476C>T, p.P84L" "risk factor; different transcript: NM_001206389.1(FGF8):c.251C>T is NM_006119.4(FGF8):c.476C>T" "Unknown" "?" "" "0" "" "" "g.101770501G>A" "" "association" "" "0000978861" "0" "50" "10" "103535649" "103535649" "subst" "0" "01804" "FGF8_000021" "g.103535649G>T" "" "" "" "FGF8(NM_033163.5):c.9C>A (p.(Ser3Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037688" "0" "50" "10" "103530096" "103530096" "subst" "0" "01804" "FGF8_000022" "g.103530096T>C" "" "" "" "FGF8(NM_033163.5):c.725A>G (p.(Glu242Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053689" "0" "30" "10" "103531278" "103531278" "subst" "2.03036E-5" "01804" "FGF8_000023" "g.103531278C>T" "" "" "" "FGF8(NM_033163.5):c.386G>A (p.(Arg129Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 FGF8 ## Count = 28 "{{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}}" "0000283922" "00025636" "10" "445" "-62" "445" "-62" "c.445-62G>A" "r.(=)" "p.(=)" "" "0000287386" "00025636" "50" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Gly234Ser)" "" "0000287387" "00025636" "50" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000341821" "00025636" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Ter)" "" "0000474983" "00025636" "50" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000538936" "00025636" "30" "86" "0" "103" "0" "c.86_103dup" "r.(?)" "p.(Gly29_Arg34dup)" "" "0000538937" "00025636" "50" "86" "0" "103" "0" "c.86_103dup" "r.(?)" "p.(Gly29_Arg34dup)" "" "0000538938" "00025636" "30" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000538939" "00025636" "10" "32" "11" "32" "11" "c.32+11C>T" "r.(=)" "p.(=)" "" "0000538940" "00025636" "30" "-5938" "0" "-5938" "0" "c.-5938T>A" "r.(?)" "p.(=)" "" "0000612238" "00025636" "10" "444" "19" "444" "19" "c.444+19G>A" "r.(=)" "p.(=)" "" "0000612239" "00025636" "70" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Arg129Ter)" "" "0000622313" "00025636" "30" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Lys144=)" "" "0000647838" "00025636" "50" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Thr229Met)" "" "0000690635" "00025636" "30" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000699826" "00025636" "50" "361" "0" "361" "0" "c.361A>T^362C>G" "r.(?)" "p.(Thr121Ser)" "" "0000722643" "00025636" "10" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Thr194=)" "" "0000722644" "00025636" "30" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Thr194=)" "" "0000804271" "00025636" "30" "86" "0" "103" "0" "c.86_103dup" "r.(?)" "p.(Gly29_Arg34dup)" "" "0000813591" "00025636" "90" "0" "0" "0" "0" "c.-102_*199{2}" "r.?" "p.?" "" "0000813592" "00025636" "90" "0" "0" "0" "0" "c.-102_*199{2}" "r.?" "p.?" "" "0000861795" "00025636" "30" "86" "0" "103" "0" "c.86_103dup" "r.(?)" "p.(Gly29_Arg34dup)" "" "0000888965" "00025636" "50" "426" "0" "426" "0" "c.426G>C" "r.(?)" "p.(Lys142Asn)" "" "0000905526" "00025636" "50" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Pro159Ser)" "" "0000905527" "00025636" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Pro159Leu)" "" "0000978861" "00025636" "50" "9" "0" "9" "0" "c.9C>A" "r.(?)" "p.(Ser3Arg)" "" "0001037688" "00025636" "50" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Glu242Gly)" "" "0001053689" "00025636" "30" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000232556" "0000474983" "0000291149" "0000647838" "0000317302" "0000699826" "0000386187" "0000813591" "0000386188" "0000813592" "0000427955" "0000905526" "0000427956" "0000905527"