### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDHA2) # 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}}" "PDHA2" "pyruvate dehydrogenase (lipoamide) alpha 2" "4" "q22-q23" "unknown" "NC_000004.11" "UD_136090038543" "" "https://www.LOVD.nl/PDHA2" "" "1" "8807" "5161" "179061" "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/PDHA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-08 19:37:19" "00000" "2025-02-07 18:57:27" ## 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}}" "00015906" "PDHA2" "pyruvate dehydrogenase (lipoamide) alpha 2" "001" "NM_005390.4" "" "NP_005381.1" "" "" "" "-63" "1324" "1167" "96761239" "96762625" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "04227" "BD" "brachydactyly (BD)" "" "" "" "" "" "00006" "2015-03-14 21:49:37" "" "" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "06910" "SPGF70" "spermatogenic failure, type 70" "AR" "619828" "" "" "" "00006" "2022-04-08 19:36:43" "00006" "2022-04-08 19:49:53" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PDHA2" "05562" "PDHA2" "06910" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00107535" "" "" "" "7" "" "02147" "{PMID:Yildrim 2018:29581481}" "family, 7 affecteds (3M, 4F), parents first cousins" "M" "yes" "Algeria" ">31y" "0" "Yes" "" "" "FAM53-412" "00133223" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "M" "yes" "Algeria" ">43y" "0" "" "" "" "FAM53-401" "00133226" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "M" "yes" "Algeria" ">37y" "0" "" "" "" "FAM53-406" "00133227" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "F" "yes" "Algeria" ">36y" "0" "" "" "" "FAM53-408" "00133228" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "F" "yes" "Algeria" ">62y" "0" "" "" "" "FAM53-302" "00133229" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "brother" "M" "yes" "Algeria" ">43y" "0" "" "" "" "FAM53-409" "00133230" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "M" "yes" "Algeria" ">30y" "0" "" "" "" "FAM53-413" "00403102" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Tunisia" "" "0" "" "" "" "P0253" "00403103" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Tunisia" "" "0" "" "" "" "P0144" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00107535" "00201" "00107535" "04227" "00133223" "00201" "00133223" "04227" "00133226" "00201" "00133226" "04227" "00133227" "00201" "00133227" "04227" "00133228" "04227" "00133229" "00201" "00133229" "04227" "00133230" "00201" "00133230" "04227" "00403102" "00201" "00403103" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 04227, 05562, 06910 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000085328" "04227" "00107535" "02147" "Familial, autosomal recessive" "" "Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), symphalangism of the 3rd finger (HP:0009445), no symphalangism of the 4th finger (-HP:0009857), symphalangism of the 5th finger (HP:0004218), thumb brachydactyly (HP:0009778), short 2nd finger (HP:0009536), 5th finger brachydactyly (HP:0009237), camptodactyly of the 3rd finger (HP:0009471), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173)" "" "" "yeserin@gmail.com" "" "" "" "" "" "" "0000106396" "00201" "00107535" "02147" "Familial, autosomal recessive" "" "male infertility (HP:0003251), azoospemia (HP:0000027)" "" "" "yeserin@gmail.com" "" "" "" "" "SPGF70" "" "0000106797" "04227" "00133227" "02147" "Familial, autosomal recessive" "" "Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), symphalangism of the 5th finger (HP:0004218), no thumb brachydactyly (-HP:0009778), crowded carpal bones unknown (?HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), no short 5th toe (-HP:0011917), duplication of the phalanges of the 2nd toe unknown (?HP:0010355), aplasia/hypoplasia of the phalanges of the toes unknown (?HP:0010173)" "" "" "" "" "" "" "" "" "" "0000106798" "04227" "00133226" "02147" "Familial, autosomal recessive" "" "no symphalangism of the thumb (-HP:0009656), Symphalangism of the 2nd finger (HP:0009545), no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), no hallux valgus (-HP:0001822), 2-3 toe syndactyly (HP:0004691), short 5th toe (HP:0011917), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173)" "" "" "" "" "" "" "" "" "" "0000106799" "00201" "00133226" "02147" "Familial, autosomal recessive" "" "male infertility (HP:0003251), azoospemia (HP:0000027)" "" "" "" "" "" "" "" "SPGF70" "" "0000106800" "04227" "00133223" "02147" "Familial, autosomal recessive" "" "Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), symphalangism of the 3rd finger (HP:0009445), symphalangism of the 4th finger (HP:0009857), no symphalangism of the 5th finger (-HP:0004218), thumb brachydactyly (HP:0009778), 5th finger camptodactyly (HP:0009185), curved phalanges of the 2nd finger (HP:0009549), curved phalanges of the 3rd finger (HP:0009442), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), short 5th toe (HP:0011917), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173)" "" "" "" "" "" "" "" "" "" "0000106801" "00201" "00133223" "02147" "Familial, autosomal recessive" "" "male infertility (HP:0003251), oligospermia (HP:0000798), asthenospermia (HP:0012207)" "" "" "" "" "" "" "" "SPGF70" "" "0000106802" "04227" "00133228" "02147" "Familial, autosomal recessive" "" "no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), no crowded carpal bones (-HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (-HP:0001822), no 2-3 toe syndactyly (-HP:0004691), no camptodactyly of 3rd toe (-HP:0100349), no camptodactyly of the 4th toe (-HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173)" "" "" "" "" "" "" "" "" "" "0000106803" "04227" "00133229" "02147" "Familial, autosomal recessive" "" "no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (-HP:0001822), no 2-3 toe syndactyly (-HP:0004691), no camptodactyly of 3rd toe (-HP:0100349), no camptodactyly of the 4th toe (-HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173)" "" "" "" "" "" "" "" "" "" "0000106804" "00201" "00133229" "02147" "Familial, autosomal recessive" "" "no male infertility (-HP:0003251), no azoospemia (-HP:0000027), no oligospermia (-HP:0000798), no asthenospermia (-HP:0012207), Nonmotile sperm (HP:0012208)" "" "" "" "" "" "" "" "" "" "0000106805" "04227" "00133230" "02147" "Familial, autosomal recessive" "" "no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778),no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (HP:0001822), no 2-3 toe syndactyly (-HP:0004691), camptodactyly of 3rd toe (HP:0100349), camptodactyly of the 4th toe (HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173)" "" "" "" "" "" "" "" "" "" "0000106806" "00201" "00133230" "02147" "Familial, autosomal recessive" "" "male infertility unknown (?HP:0003251), azoospemia unknown (?HP:0000027), oligospermia unknown (?HP:0000798), asthenospermia unknown (?HP:0012207), Nonmotile sperm unknown (?HP:0012208)" "" "" "" "" "" "" "" "" "" "0000295849" "00201" "00403102" "00006" "Familial, autosomal recessive" "" "left/right testis volume 10-15/10-15 mL; FSH 2.87 IU/L; testis hypospermatogenesis; sperm retrieval positive; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "SPGF70" "non-obstructive azoospermia" "0000295850" "00201" "00403103" "00006" "Familial, autosomal recessive" "" "left/right testis volume 10-15/10-15 mL; FSH 2.4 IU/L; testis meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "SPGF70" "non-obstructive azoospermia" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108007" "00107535" "1" "02147" "02147" "2017-07-12 20:22:48" "" "" "arraySNP;SEQ;SEQ-NG-I" "DNA" "whole blood" "" "0000134058" "00133223" "1" "02147" "02147" "2017-11-13 14:48:28" "" "" "SSCA" "DNA" "Whole blood" "" "0000134061" "00133226" "1" "02147" "02147" "2017-11-13 15:07:55" "" "" "SSCA" "DNA" "Whole blood" "" "0000134062" "00133227" "1" "02147" "02147" "2017-11-13 15:57:47" "" "" "SSCA" "DNA" "Whole blood" "" "0000134063" "00133228" "1" "02147" "02147" "2017-11-13 16:15:31" "" "" "SSCA" "DNA" "Whole blood" "" "0000134064" "00133229" "1" "02147" "02147" "2017-11-13 19:43:06" "" "" "SSCA" "DNA" "Whole blood" "" "0000134065" "00133230" "1" "02147" "02147" "2017-11-13 20:39:16" "" "" "SSCA" "DNA" "Whole blood" "" "0000404343" "00403102" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404344" "00403103" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000134058" "BMPR1B" "0000134058" "PDHA2" "0000134061" "BMPR1B" "0000134061" "PDHA2" "0000134062" "BMPR1B" "0000134062" "PDHA2" "0000134063" "BMPR1B" "0000134063" "PDHA2" "0000134064" "BMPR1B" "0000134064" "PDHA2" "0000134065" "BMPR1B" "0000134065" "PDHA2" "0000404343" "PDHA2" "0000404344" "PDHA2" ## 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 = 10 "{{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}}" "0000223724" "3" "70" "4" "96761980" "96761980" "subst" "6.09172E-5" "02147" "PDHA2_000001" "g.96761980A>G" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "rs200969445" "0" "" "" "g.95840829A>G" "" "likely pathogenic" "" "0000223733" "3" "70" "4" "96761980" "96761980" "subst" "6.09172E-5" "02147" "PDHA2_000001" "g.96761980A>G" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "rs200969445" "0" "" "" "g.95840829A>G" "" "likely pathogenic" "" "0000223735" "3" "70" "4" "96761980" "96761980" "subst" "6.09172E-5" "02147" "PDHA2_000001" "g.96761980A>G" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95840829A>G" "" "likely pathogenic" "" "0000223737" "3" "70" "4" "96761980" "96761980" "subst" "6.09172E-5" "02147" "PDHA2_000001" "g.96761980A>G" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "rs200969445" "0" "" "" "g.95840829A>G" "" "likely pathogenic" "" "0000223739" "0" "70" "4" "96761980" "96761980" "subst" "6.09172E-5" "02147" "PDHA2_000001" "g.96761980A>G" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "rs200969445" "0" "" "" "g.95840829A>G" "" "likely pathogenic" "" "0000223741" "0" "70" "4" "96761980" "96761980" "subst" "6.09172E-5" "02147" "PDHA2_000001" "g.96761980A>G" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "rs200969445" "0" "" "" "g.95840829A>G" "" "likely pathogenic" "" "0000223743" "0" "70" "4" "96761980" "96761980" "subst" "6.09172E-5" "02147" "PDHA2_000001" "g.96761980A>G" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "rs200969445" "0" "" "" "g.95840829A>G" "" "likely pathogenic" "" "0000840013" "3" "70" "4" "96761980" "96761980" "subst" "6.09172E-5" "00006" "PDHA2_000001" "g.96761980A>G" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_005390.5:c.679A>G" "" "Germline" "" "" "0" "" "" "g.95840829A>G" "" "likely pathogenic (recessive)" "" "0000840014" "3" "70" "4" "96761980" "96761980" "subst" "6.09172E-5" "00006" "PDHA2_000001" "g.96761980A>G" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_005390.5:c.679A>G" "" "Germline" "" "" "0" "" "" "g.95840829A>G" "" "likely pathogenic (recessive)" "" "0001024958" "0" "90" "4" "96761980" "96761980" "subst" "6.09172E-5" "02327" "PDHA2_000001" "g.96761980A>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 PDHA2 ## Count = 10 "{{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}}" "0000223724" "00015906" "50" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "1" "0000223733" "00015906" "70" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "1" "0000223735" "00015906" "70" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "1" "0000223737" "00015906" "70" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "1" "0000223739" "00015906" "70" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "1" "0000223741" "00015906" "70" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "1" "0000223743" "00015906" "70" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "1" "0000840013" "00015906" "70" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "" "0000840014" "00015906" "70" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "" "0001024958" "00015906" "90" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000108007" "0000223724" "0000134058" "0000223733" "0000134061" "0000223735" "0000134062" "0000223737" "0000134063" "0000223739" "0000134064" "0000223741" "0000134065" "0000223743" "0000404343" "0000840013" "0000404344" "0000840014"