### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PYCR2) # 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}}" "PYCR2" "pyrroline-5-carboxylate reductase family, member 2" "1" "q42.13" "unknown" "NG_044963.1" "UD_132319256660" "" "https://www.LOVD.nl/PYRC2" "" "1" "30262" "29920" "616406" "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/PYCR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-07-18 22:43:28" "00000" "2025-02-26 18:28:02" ## 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}}" "00024298" "PYCR2" "transcript variant 1" "002" "NM_013328.3" "" "NP_037460.2" "" "" "" "-230" "1541" "963" "226112040" "226107577" "00006" "2017-07-18 22:44:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04636" "HLD10" "leukodystrophy, hypomyelinating, type 10 (HLD-10)" "AR" "616420" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05153" "MCPH" "microcephaly, primary, autosomal recessive (MCPH)" "" "" "" "" "" "00006" "2016-04-14 15:50:58" "00006" "2016-07-05 08:24:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PYCR2" "04636" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00074397" "" "" "" "2" "" "01604" "{PMID:Nakayama 2015:25865492}, {DOI:Nakayama 2015:10.1016/j.ajhg.2015.03.003}" "2-generation family, affected brother/sister, PatMR901" "M" "yes" "Oman" ">11y" "0" "" "" "" "25865492-Fam1PatMR901" "00074398" "" "" "00074397" "1" "" "01604" "{PMID:Nakayama 2015:25865492}, {DOI:Nakayama 2015:10.1016/j.ajhg.2015.03.003}" "PatMR902" "F" "yes" "Oman" ">10y" "0" "" "" "" "25865492-Fam1PatMR902" "00074399" "" "" "" "2" "" "01604" "{PMID:Nakayama 2015:25865492}, {DOI:Nakayama 2015:10.1016/j.ajhg.2015.03.003}" "2-generation family, 2 affected sisters, PatMC27801" "F" "yes" "Palestine" ">09y" "0" "" "" "" "25865492-Fam2PatMC27801" "00074400" "" "" "00074399" "1" "" "01604" "{PMID:Nakayama 2015:25865492}, {DOI:Nakayama 2015:10.1016/j.ajhg.2015.03.003}" "PatMC27802" "F" "yes" "Palestine" ">07y" "0" "" "" "" "25865492-Fam2PatMC27802" "00426151" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "10DK8900" "00426152" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, no other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "10SN11400" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00074397" "05153" "00074398" "05153" "00074399" "05153" "00074400" "05153" "00426151" "00139" "00426152" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04636, 05153 ## Count = 6 "{{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}}" "0000054215" "05153" "00074397" "01604" "Familial, autosomal recessive" "11y06m" "Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), hypertonia (HP:0001276), brisk deep tendon reflex (HP:0006801), down-slanting eyes (HP:0000494), prominent eyelashes (HP:0011231), thin vermilion of the lips (HP:0011339), exotropia (HP:0000577), undescended testicles (HP:?), type 1 diabetes (HP:0100651), gastrostomy tube (HP:0011471), hypomyelination (HP:0003429), White-matter volume markedly diminished (HP:?), thin corpus callosum (HP:0002079), thin brain stem (HP:0002365)" "00y05m" "" "" "" "" "" "" "" "" "0000054216" "05153" "00074398" "01604" "Familial, autosomal recessive" "10y03m" "Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), hypertonia (HP:0001276), brisk deep tendon reflex (HP:0006801), prominent eyelashes (HP:0011231), thin vermilion of the lips (HP:0011339), poor dentition (HP:0000696), malformed teeth (HP:0006482), hypomyelination (HP:0003429), White-matter volume markedly diminished (HP:?), thin corpus callosum (HP:0002079), slightly thin brain stem (HP:0002365)" "00y08m" "" "" "" "" "" "" "" "" "0000054217" "05153" "00074399" "01604" "Familial, autosomal recessive" "09y05m" "no decreased head circumference at birth (-HP:0011451), Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), limited range of motion of the hips and knees (HP:?), hyperextensibility of wrists (HP:0005072) and ankles (HP:?), brisk deep tendon reflex (HP:0006801), up-slanting eyes (HP:0000582), bulbous nasal tip (HP:0000414), protuberant ears (HP:?) with\r\nhypoplastic antihelix (HP:0009739), large atrial septal defect (HP:0011643), gastrostomy tube (HP:0011471), white-matter volume markedly diminished (HP:?), very thin corpus callosum (HP:0002079), slightly thin brain stem (HP:0002365)" "00y00m" "" "" "" "" "" "" "" "" "0000054218" "05153" "00074400" "01604" "Familial, autosomal recessive" "07y08m" "decreased head circumference present at birth (HP:0011451), Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), hyperextensibility of\r\nthe wrists (HP:0005072) and ankles (HP:?), brisk deep tendon reflex (HP:0006801), down-slanting eyes (HP:0000494), blunted nasal tip (HP:?), prominent jaw (HP:0000303), white-matter volume markedly diminished (HP:?), very thin corpus callosum (HP:0002079), slightly thin brain stem (HP:0002365)" "00y00m" "" "" "" "" "" "" "" "" "0000317301" "00139" "00426151" "00006" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "Leukodystrophy, hypomyelinating, 10" "intellectual disability" "0000317302" "00139" "00426152" "00006" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "Leukodystrophy, hypomyelinating, 10" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000074558" "00074397" "1" "01604" "01604" "2016-06-27 11:44:20" "" "" "PCR;SEQ" "DNA;RNA" "" "" "0000074559" "00074398" "1" "01604" "01604" "2016-06-27 11:58:36" "" "" "PCR;SEQ" "DNA;RNA" "" "" "0000074560" "00074399" "1" "01604" "01604" "2016-06-27 12:14:20" "" "" "PCR;SEQ" "DNA;RNA" "" "" "0000074561" "00074400" "1" "01604" "01604" "2016-06-27 12:22:13" "" "" "PCR;SEQ" "DNA;RNA" "" "" "0000427471" "00426151" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427472" "00426152" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000074558" "PYCR2" "0000074559" "PYCR2" "0000074560" "PYCR2" "0000074561" "PYCR2" ## 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 = 25 "{{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}}" "0000118936" "3" "90" "1" "226109743" "226109743" "subst" "3.25267E-5" "01604" "PYCR2_000001" "g.226109743G>A" "" "{PMID:Nakayama 2015:25865492}, {DOI:Nakayama 2015:10.1016/j.ajhg.2015.03.003}" "" "" "" "Germline" "" "" "0" "" "" "g.225922043G>A" "" "pathogenic" "" "0000118937" "3" "90" "1" "226109743" "226109743" "subst" "3.25267E-5" "01604" "PYCR2_000001" "g.226109743G>A" "" "{PMID:Nakayama 2015:25865492}, {DOI:Nakayama 2015:10.1016/j.ajhg.2015.03.003}" "" "" "" "Germline" "" "" "0" "" "" "g.225922043G>A" "" "pathogenic" "" "0000118938" "3" "90" "1" "226108954" "226108954" "subst" "0" "01604" "PYCR2_000002" "g.226108954G>A" "" "{PMID:Nakayama 2015:25865492}, {DOI:Nakayama 2015:10.1016/j.ajhg.2015.03.003}" "" "" "" "Germline" "" "" "0" "" "" "g.225921254G>A" "" "pathogenic" "" "0000118939" "3" "90" "1" "226108954" "226108954" "subst" "0" "01604" "PYCR2_000002" "g.226108954G>A" "" "{PMID:Nakayama 2015:25865492}, {DOI:Nakayama 2015:10.1016/j.ajhg.2015.03.003}" "" "" "" "Germline" "" "" "0" "" "" "g.225921254G>A" "" "pathogenic" "" "0000306651" "0" "10" "1" "226110091" "226110092" "del" "0" "01943" "PYCR2_000004" "g.226110091_226110092del" "" "" "" "PYCR2(NM_013328.3):c.139-7_139-6delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225922391_225922392del" "" "benign" "" "0000306652" "0" "30" "1" "226109699" "226109699" "subst" "0.000605662" "01943" "PYCR2_000003" "g.226109699T>C" "" "" "" "PYCR2(NM_013328.3):c.399A>G (p.T133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225921999T>C" "" "likely benign" "" "0000342461" "0" "90" "1" "226108915" "226108915" "subst" "1.63341E-5" "02327" "PYCR2_000005" "g.226108915G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225921215G>A" "" "pathogenic" "" "0000347690" "0" "90" "1" "226111809" "226111809" "subst" "0" "02327" "PYCR2_000007" "g.226111809A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225924109A>G" "" "pathogenic" "" "0000505700" "0" "90" "1" "226108909" "226108909" "subst" "0" "01804" "PYCR2_000008" "g.226108909G>A" "" "" "" "PYCR2(NM_001271681.1):c.574C>T (p.(Arg192*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.225921209G>A" "" "pathogenic" "" "0000505701" "0" "30" "1" "226109327" "226109327" "subst" "0.000544538" "01943" "PYCR2_000009" "g.226109327G>A" "" "" "" "PYCR2(NM_013328.3):c.558C>T (p.D186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.225921627G>A" "" "likely benign" "" "0000620532" "0" "30" "1" "226109705" "226109705" "subst" "8.13134E-5" "01943" "PYCR2_000010" "g.226109705G>A" "" "" "" "PYCR2(NM_013328.3):c.393C>T (p.G131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.225922005G>A" "" "likely benign" "" "0000620533" "0" "30" "1" "226111391" "226111391" "subst" "0" "01943" "PYCR2_000011" "g.226111391C>A" "" "" "" "PYCR2(NM_013328.3):c.138+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.225923691C>A" "" "likely benign" "" "0000717220" "0" "30" "1" "226109270" "226109270" "subst" "0.00157557" "01943" "PYCR2_000012" "g.226109270G>A" "" "" "" "PYCR2(NM_013328.3):c.615C>T (p.L205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717221" "0" "30" "1" "226109570" "226109570" "subst" "2.06842E-5" "01943" "PYCR2_000013" "g.226109570G>A" "" "" "" "PYCR2(NM_013328.3):c.528C>T (p.S176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717222" "0" "90" "1" "226109971" "226109971" "del" "0" "01943" "PYCR2_000014" "g.226109971del" "" "" "" "PYCR2(NM_013328.3):c.252delC (p.D85Tfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799142" "0" "50" "1" "226109586" "226109586" "subst" "0" "01943" "PYCR2_000015" "g.226109586G>A" "" "" "" "PYCR2(NM_013328.3):c.512C>T (p.T171M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799143" "0" "70" "1" "226109780" "226109780" "subst" "4.08367E-6" "01943" "PYCR2_000016" "g.226109780C>G" "" "" "" "PYCR2(NM_013328.3):c.319-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000904831" "3" "70" "1" "226109743" "226109743" "subst" "3.25267E-5" "00006" "PYCR2_000001" "g.226109743G>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "rs372781135" "0" "" "" "g.225922043G>A" "VCV000192393.1" "likely pathogenic (recessive)" "" "0000904832" "3" "70" "1" "226109743" "226109743" "subst" "3.25267E-5" "00006" "PYCR2_000001" "g.226109743G>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "rs372781135" "0" "" "" "g.225922043G>A" "VCV000192393.1" "likely pathogenic (recessive)" "" "0000947160" "0" "50" "1" "226109326" "226109326" "subst" "0" "02327" "PYCR2_000017" "g.226109326C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947161" "0" "50" "1" "226111444" "226111444" "subst" "0" "02327" "PYCR2_000018" "g.226111444G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973721" "0" "50" "1" "226110029" "226110029" "subst" "0.000162513" "01804" "PYCR2_000019" "g.226110029C>T" "" "" "" "PYCR2(NM_013328.4):c.193G>A (p.(Val65Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990904" "0" "50" "1" "226110000" "226110002" "del" "0" "01804" "PYCR2_000006" "g.226110000_226110002del" "" "" "" "PYCR2(NM_001271681.1):c.223_225delATC (p.(Ile75del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990905" "0" "30" "1" "226111454" "226111454" "subst" "4.06253E-6" "01804" "PYCR2_000020" "g.226111454T>C" "" "" "" "PYCR2(NM_013328.3):c.85A>G (p.(Lys29Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029691" "0" "90" "1" "226109289" "226109289" "subst" "8.12203E-6" "03779" "PYCR2_000021" "g.226109289C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs376952965" "0" "" "" "" "" "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 PYCR2 ## Count = 25 "{{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}}" "0000118936" "00024298" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Cys)" "4" "0000118937" "00024298" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Cys)" "4" "0000118938" "00024298" "90" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251Cys)" "6" "0000118939" "00024298" "90" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251Cys)" "6" "0000306651" "00024298" "10" "139" "-7" "139" "-6" "c.139-7_139-6del" "r.(=)" "p.(=)" "" "0000306652" "00024298" "30" "399" "0" "399" "0" "c.399A>G" "r.(?)" "p.(Thr133=)" "" "0000342461" "00024298" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Ter)" "" "0000347690" "00024298" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000505700" "00024298" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Ter)" "" "0000505701" "00024298" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Asp186=)" "" "0000620532" "00024298" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Gly131=)" "" "0000620533" "00024298" "30" "138" "10" "138" "10" "c.138+10G>T" "r.(=)" "p.(=)" "" "0000717220" "00024298" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Leu205=)" "" "0000717221" "00024298" "30" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Ser176=)" "" "0000717222" "00024298" "90" "252" "0" "252" "0" "c.252del" "r.(?)" "p.(Asp85Thrfs*24)" "" "0000799142" "00024298" "50" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Thr171Met)" "" "0000799143" "00024298" "70" "319" "-1" "319" "-1" "c.319-1G>C" "r.spl?" "p.?" "" "0000904831" "00024298" "70" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Cys)" "" "0000904832" "00024298" "70" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Cys)" "" "0000947160" "00024298" "50" "559" "0" "559" "0" "c.559G>T" "r.(?)" "p.(Ala187Ser)" "" "0000947161" "00024298" "50" "95" "0" "95" "0" "c.95C>A" "r.(?)" "p.(Ala32Asp)" "" "0000973721" "00024298" "50" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Val65Ile)" "" "0000990904" "00024298" "50" "223" "0" "225" "0" "c.223_225del" "r.(?)" "p.(Ile75del)" "" "0000990905" "00024298" "30" "85" "0" "85" "0" "c.85A>G" "r.(?)" "p.(Lys29Glu)" "" "0001029691" "00024298" "90" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000074558" "0000118936" "0000074559" "0000118937" "0000074560" "0000118938" "0000074561" "0000118939" "0000427471" "0000904831" "0000427472" "0000904832"