### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDK3) # 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}}" "PDK3" "pyruvate dehydrogenase kinase, isozyme 3" "X" "p22.12" "unknown" "NG_016762.1" "UD_132085327384" "" "https://www.LOVD.nl/PDK3" "" "1" "8811" "5165" "300906" "1" "1" "1" "1" "This database is one of the gene variant databases from the:

" "" "g" "https://databases.lovd.nl/shared/refseq/PDK3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2019-12-31 15:55:30" "00006" "2026-03-06 17:26:39" ## 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}}" "00000730" "PDK3" "transcript variant 2" "002" "NM_005391.4" "" "NP_005382.1" "" "" "" "-229" "1574" "1221" "24483344" "24552542" "00000" "2012-09-13 12:50:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05558" "CMTX6" "Charcot-Marie-Tooth disease, X-linked, type 6 (CMTX-6)" "XLD" "300905" "" "X-linked dominant" "" "00006" "2019-02-04 17:12:00" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PDK3" "05558" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00210545" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "" "" "" "" "00210546" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "" "" "" "" "00210547" "" "" "" "8" "" "00006" "{PMID:Kennerson 2013:23297365}" "4-generation family, 8 affecteds" "M" "no" "Australia" "" "0" "" "" "" "23297365-PatM" "00210548" "" "" "" "12" "" "00006" "{PMID:Kennerson 2013:23297365}" "4-generation family, 12 affected carrier females" "F" "no" "Australia" "" "0" "" "" "" "23297365-PatF" "00210549" "" "" "" "1" "" "00006" "{PMID:Kennerson 2013:23297365}" "family" "" "" "" "" "0" "" "" "" "23297365-Fam2" "00210550" "" "" "" "1" "" "00006" "{PMID:Kennerson 2013:23297365}" "family" "" "" "" "" "0" "" "" "" "23297365-Fam3" "00219094" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat104" "00405976" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "194429" "00473009" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam2436Pat108" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00210545" "00187" "00210546" "00187" "00210547" "05113" "00210548" "05113" "00210549" "05113" "00210550" "05113" "00219094" "05113" "00405976" "05558" "00473009" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 05113, 05558 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000159110" "00187" "00210545" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "0000159111" "00187" "00210546" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "0000159112" "05113" "00210547" "00006" "Familial, X-linked dominant" "" "more severe then females" "<6y6m" "" "" "foot deformity, gait abnormalities" "" "" "" "" "CMTX-6" "Charcot-Marie-Tooth disease" "0000159113" "05113" "00210548" "00006" "Familial, X-linked dominant" "" "mildly affected/asymptomatic" "" "" "" "" "" "" "" "" "CMTX-6" "Charcot-Marie-Tooth disease" "0000159114" "05113" "00210549" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "CMTX-6" "Charcot-Marie-Tooth disease" "0000159115" "05113" "00210550" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "CMTX-6" "Charcot-Marie-Tooth disease" "0000167651" "05113" "00219094" "00006" "Unknown" "" "CMTX6" "" "" "" "" "" "" "" "" "CMTX-6" "Charcot-Marie-Tooth diseae" "0000298474" "05558" "00405976" "01164" "Unknown" "50y" "Sensorimotor neuropathy, PMP22 excluded" "" "" "" "" "" "" "" "" "" "" "0000357804" "05113" "00473009" "00006" "Familial, X-linked" "43y" "onset 12y with difficulty walking; Muscle weakness, upper limb; Palpitations during heavy work; Blurred vision, occasionally; Mildly abnormal semen analysis; EMG-NCV: bilateral severe chronic sensorimotor axonal polyneuropathy (CMT)." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000211621" "00210545" "1" "00006" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000211622" "00210546" "1" "00006" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000211623" "00210547" "1" "00006" "00006" "2013-03-15 18:53:20" "" "" "MCA;SEQ;SEQ-NG-I" "DNA" "" "" "0000211624" "00210548" "1" "00006" "00006" "2013-03-15 18:53:20" "" "" "MCA;SEQ;SEQ-NG-I" "DNA" "" "" "0000211625" "00210549" "1" "00006" "00006" "2013-03-15 18:53:20" "" "" "SEQ" "DNA" "" "" "0000211626" "00210550" "1" "00006" "00006" "2013-03-15 18:53:20" "" "" "SEQ" "DNA" "" "" "0000220166" "00219094" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000407217" "00405976" "1" "01164" "01164" "2022-03-24 14:07:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000474678" "00473009" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000211621" "PDK3" "0000211622" "PDK3" "0000211623" "PDK3" "0000211624" "PDK3" "0000211625" "PDK3" "0000211626" "PDK3" "0000220166" "PDK3" "0000407217" "PDK3" ## 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 = 26 "{{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}}" "0000001838" "20" "50" "X" "24536996" "24536997" "del" "0" "00037" "PDK3_010001" "g.24536996_24536997del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24518879_24518880del" "" "VUS" "" "0000008559" "0" "50" "X" "24536996" "24536997" "del" "0" "00037" "PDK3_010001" "g.24536996_24536997del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24518879_24518880del" "" "VUS" "" "0000010853" "0" "50" "X" "24483717" "24483717" "dup" "0" "00037" "PDK3_010003" "g.24483717dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24465600dup" "" "VUS" "" "0000293636" "0" "10" "X" "24516937" "24516937" "del" "0" "02330" "PDK3_010005" "g.24516937del" "" "" "" "PDK3(NM_001142386.3):c.249-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24498820del" "" "benign" "" "0000443217" "1" "30" "X" "24521459" "24521459" "subst" "2.42586E-5" "00006" "PDK3_000001" "g.24521459G>C" "" "{PMID:Tarpey 2009:19377476}" "" "p.L112L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.24503342G>C" "" "likely benign" "" "0000443218" "1" "50" "X" "24521499" "24521499" "subst" "0.00122801" "00006" "PDK3_000002" "g.24521499A>G" "" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.24503382A>G" "" "VUS" "" "0000443219" "21" "90" "X" "24521596" "24521596" "subst" "0" "00006" "PDK3_000003" "g.24521596G>A" "1/63 families" "{PMID:Kennerson 2013:23297365}" "" "G473A" "linkage, exome sequencing; not in 1200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.24503479G>A" "" "pathogenic (dominant)" "" "0000443220" "1" "90" "X" "24521596" "24521596" "subst" "0" "00006" "PDK3_000003" "g.24521596G>A" "1/63 families" "{PMID:Kennerson 2013:23297365}" "" "G473A" "linkage, exome sequencing; not in 1200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.24503479G>A" "" "pathogenic (dominant)" "" "0000443221" "1" "30" "X" "24521464" "24521464" "subst" "9.09366E-5" "00006" "PDK3_000004" "g.24521464A>C" "1/63 families" "{PMID:Kennerson 2013:23297365}" "" "" "" "Germline" "no" "" "0" "" "" "g.24503347A>C" "" "likely benign" "" "0000443222" "1" "30" "X" "24549811" "24549811" "subst" "0" "00006" "PDK3_000005" "g.24549811A>C" "1/63 families" "{PMID:Kennerson 2013:23297365}" "" "" "" "Germline" "no" "" "0" "" "" "g.24531694A>C" "" "likely benign" "" "0000443223" "0" "90" "X" "24521596" "24521596" "subst" "0" "00006" "PDK3_000003" "g.24521596G>A" "" "{PMID:Kennerson 2013:23297365}" "" "" "expression cloning, PKD3 hyperactivity (5x increased)" "In vitro (cloned)" "" "" "0" "" "" "g.24503479G>A" "" "NA" "" "0000443224" "0" "90" "X" "24521596" "24521596" "subst" "0" "00006" "PDK3_000003" "g.24521596G>A" "" "{PMID:Kennerson 2013:23297365}" "" "" "expression cloning, significant increase in L2-binding affinity" "In vitro (cloned)" "" "" "0" "" "" "g.24503479G>A" "" "NA" "" "0000455081" "1" "70" "X" "24521625" "24521625" "subst" "0" "00006" "PDK3_010006" "g.24521625C>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pm1, pm2, pm5" "Germline" "" "" "0" "" "" "g.24503508C>A" "" "likely pathogenic" "ACMG" "0000575380" "0" "30" "X" "24483623" "24483623" "subst" "0.000858205" "02330" "PDK3_010007" "g.24483623G>C" "" "" "" "PDK3(NM_001142386.3):c.51G>C (p.E17D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24465506G>C" "" "likely benign" "" "0000575381" "0" "10" "X" "24516937" "24516937" "dup" "0" "02330" "PDK3_010008" "g.24516937dup" "" "" "" "PDK3(NM_001142386.3):c.249-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24498820dup" "" "benign" "" "0000575384" "0" "30" "X" "24521499" "24521499" "subst" "0.00122801" "01804" "PDK3_000002" "g.24521499A>G" "" "" "" "PDK3(NM_001142386.2):c.376A>G (p.(Met126Val)), PDK3(NM_001142386.3):c.376A>G (p.M126V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24503382A>G" "" "likely benign" "" "0000575385" "0" "10" "X" "24557261" "24557261" "subst" "0.00325063" "02330" "PDK3_010011" "g.24557261A>C" "" "" "" "PDK3(NM_001142386.3):c.1228A>C (p.K410Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24539144A>C" "" "benign" "" "0000619433" "0" "30" "X" "24483608" "24483608" "subst" "8.80307E-5" "01943" "PDK3_010012" "g.24483608G>A" "" "" "" "PDK3(NM_001142386.2):c.36G>A (p.V12=), PDK3(NM_001142386.3):c.36G>A (p.V12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24465491G>A" "" "likely benign" "" "0000619434" "0" "30" "X" "24521499" "24521499" "subst" "0.00122801" "02326" "PDK3_000002" "g.24521499A>G" "" "" "" "PDK3(NM_001142386.2):c.376A>G (p.(Met126Val)), PDK3(NM_001142386.3):c.376A>G (p.M126V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24503382A>G" "" "likely benign" "" "0000843738" "0" "50" "X" "24521608" "24521608" "subst" "0" "01164" "PDK3_010013" "g.24521608G>A" "" "" "" "" "ACMG: PS4_SUP, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "VCV000810537.9" "VUS" "ACMG" "0000896071" "0" "30" "X" "24544322" "24544322" "subst" "6.26806E-5" "02326" "PDK3_010014" "g.24544322G>A" "" "" "" "PDK3(NM_001142386.3):c.681G>A (p.A227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927318" "0" "50" "X" "24483607" "24483607" "subst" "0" "02330" "PDK3_010015" "g.24483607T>C" "" "" "" "PDK3(NM_001142386.3):c.35T>C (p.V12A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970988" "0" "30" "X" "24483608" "24483608" "subst" "8.80307E-5" "02326" "PDK3_010012" "g.24483608G>A" "" "" "" "PDK3(NM_001142386.2):c.36G>A (p.V12=), PDK3(NM_001142386.3):c.36G>A (p.V12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970989" "0" "30" "X" "24545781" "24545781" "subst" "1.29261E-5" "02330" "PDK3_010016" "g.24545781T>C" "" "" "" "PDK3(NM_001142386.3):c.841T>C (p.L281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970990" "0" "50" "X" "24549859" "24549859" "subst" "0" "02325" "PDK3_010017" "g.24549859T>A" "" "" "" "PDK3(NM_001142386.3):c.1049T>A (p.V350E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069076" "0" "70" "X" "24521596" "24521596" "subst" "0" "00006" "PDK3_000003" "g.24521596G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PS3, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.24503479G>A" "SCV006075116" "likely pathogenic" "ACMG" ## 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 PDK3 ## Count = 26 "{{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}}" "0000001838" "00000730" "50" "596" "-54" "596" "-53" "c.596-54_596-53del" "r.(=)" "p.(=)" "" "0000008559" "00000730" "50" "596" "-54" "596" "-53" "c.596-54_596-53del" "r.(=)" "p.(=)" "" "0000010853" "00000730" "50" "106" "39" "106" "39" "c.106+39dup" "r.(=)" "p.(=)" "" "0000293636" "00000730" "10" "249" "-9" "249" "-9" "c.249-9del" "r.(=)" "p.(=)" "" "0000443217" "00000730" "30" "336" "0" "336" "0" "c.336G>C" "r.(?)" "p.(=)" "4" "0000443218" "00000730" "50" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Met126Val)" "4" "0000443219" "00000730" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "4" "0000443220" "00000730" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "4" "0000443221" "00000730" "30" "341" "0" "341" "0" "c.341A>C" "r.(?)" "p.(Lys114Thr)" "4" "0000443222" "00000730" "30" "1001" "0" "1001" "0" "c.1001A>C" "r.(?)" "p.(Tyr334Ser)" "10" "0000443223" "00000730" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.Arg158His" "4" "0000443224" "00000730" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.Arg158His" "4" "0000455081" "00000730" "70" "502" "0" "502" "0" "c.502C>A" "r.(?)" "p.(His168Asn)" "" "0000575380" "00000730" "30" "51" "0" "51" "0" "c.51G>C" "r.(?)" "p.(Glu17Asp)" "" "0000575381" "00000730" "10" "249" "-9" "249" "-9" "c.249-9dup" "r.(=)" "p.(=)" "" "0000575384" "00000730" "30" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Met126Val)" "" "0000575385" "00000730" "10" "6293" "0" "6293" "0" "c.*5072A>C" "r.(=)" "p.(=)" "" "0000619433" "00000730" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Val12=)" "" "0000619434" "00000730" "30" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Met126Val)" "" "0000843738" "00000730" "50" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162His)" "" "0000896071" "00000730" "30" "681" "0" "681" "0" "c.681G>A" "r.(?)" "p.(Ala227=)" "" "0000927318" "00000730" "50" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Val12Ala)" "" "0000970988" "00000730" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Val12=)" "" "0000970989" "00000730" "30" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(=)" "" "0000970990" "00000730" "50" "1049" "0" "1049" "0" "c.1049T>A" "r.(?)" "p.(Val350Glu)" "" "0001069076" "00000730" "70" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001838" "0000000210" "0000008559" "0000000210" "0000010853" "0000211621" "0000443217" "0000211622" "0000443218" "0000211623" "0000443219" "0000211624" "0000443220" "0000211625" "0000443221" "0000211626" "0000443222" "0000220166" "0000455081" "0000407217" "0000843738" "0000474678" "0001069076"