### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HPD) # 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}}" "HPD" "4-hydroxyphenylpyruvate dioxygenase" "12" "q14-qter" "unknown" "NG_016461.2" "UD_132084416582" "" "https://www.LOVD.nl/HPD" "" "1" "5147" "3242" "609695" "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/HPD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-07-12 13:36:35" "00000" "2025-07-08 13:22:38" ## 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}}" "00009595" "HPD" "transcript variant 1" "002" "NM_002150.2" "" "NP_002141.1" "" "" "" "-40" "1383" "1182" "122296769" "122277433" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01358" "-" "hawkinsinuria" "AD" "140350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02113" "TYRSN3" "tyrosinemia, type III (TYRSN-3)" "AR" "276710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "HPD" "00139" "HPD" "01358" "HPD" "02113" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00290627" "" "" "" "114" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290628" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304332" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374344" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1643" "00452244" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00290627" "00198" "00290628" "00198" "00304332" "00198" "00374344" "00198" "00452244" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01358, 02113 ## Count = 2 "{{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}}" "0000269554" "00198" "00374344" "00006" "Familial, autosomal recessive" "" "Epileptic encephalopathy and seizures since 2nd day of birth, did not attain milestones" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000340847" "00198" "00452244" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "TYRSN3" "tyrosinemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291795" "00290627" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291796" "00290628" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305461" "00304332" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375538" "00374344" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000453846" "00452244" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000375538" "HPD" "0000453846" "HPD" ## 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 = 31 "{{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}}" "0000281404" "0" "10" "12" "122295335" "122295335" "subst" "0.843617" "02325" "HPD_000004" "g.122295335T>C" "" "" "" "HPD(NM_002150.3):c.97A>G (p.T33A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121857429T>C" "" "benign" "" "0000285117" "0" "50" "12" "122277904" "122277904" "subst" "0.00203042" "02326" "HPD_000001" "g.122277904G>C" "" "" "" "HPD(NM_001171993.1):c.888C>G (p.I296M), HPD(NM_002150.2):c.1005C>G (p.(Ile335Met)), HPD(NM_002150.3):c.1005C>G (p.I335M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121839998G>C" "" "VUS" "" "0000323180" "0" "50" "12" "122281689" "122281689" "subst" "1.21823E-5" "01804" "HPD_000002" "g.122281689G>A" "" "" "" "HPD(NM_001171993.1):c.764C>T (p.(Thr255Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121843783G>A" "" "VUS" "" "0000323181" "0" "50" "12" "122295275" "122295275" "subst" "4.46686E-5" "01804" "HPD_000003" "g.122295275C>T" "" "" "" "HPD(NM_001171993.1):c.40G>A (p.(Gly14Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121857369C>T" "" "VUS" "" "0000546904" "0" "30" "12" "122277958" "122277958" "subst" "1.62496E-5" "01804" "HPD_000007" "g.122277958G>A" "" "" "" "HPD(NM_001171993.1):c.838-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121840052G>A" "" "likely benign" "" "0000546905" "0" "30" "12" "122281725" "122281725" "subst" "8.12216E-6" "01804" "HPD_000008" "g.122281725C>T" "" "" "" "HPD(NM_001171993.1):c.728G>A (p.(Arg243Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121843819C>T" "" "likely benign" "" "0000546906" "0" "70" "12" "122287610" "122287610" "dup" "0" "01943" "HPD_000009" "g.122287610dup" "" "" "" "HPD(NM_001171993.1):c.388dupC (p.L130Pfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121849704dup" "" "likely pathogenic" "" "0000648484" "1" "30" "12" "122277891" "122277891" "subst" "0.0140298" "03575" "HPD_000006" "g.122277891C>A" "114/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "114 heterozygous; {DB:CLININrs36023382}" "Germline" "" "rs36023382" "0" "" "" "g.121839985C>A" "" "likely benign" "" "0000648485" "1" "30" "12" "122277904" "122277904" "subst" "0.00203042" "03575" "HPD_000001" "g.122277904G>C" "38/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous, no homozygous; {DB:CLININrs137852868}" "Germline" "" "rs137852868" "0" "" "" "g.121839998G>C" "" "likely benign" "" "0000669149" "3" "30" "12" "122277891" "122277891" "subst" "0.0140298" "03575" "HPD_000006" "g.122277891C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs36023382}" "Germline" "" "rs36023382" "0" "" "" "g.121839985C>A" "" "likely benign" "" "0000723884" "0" "30" "12" "122287700" "122287700" "subst" "0.000813795" "01943" "HPD_000011" "g.122287700C>T" "" "" "" "HPD(NM_001171993.1):c.298-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786889" "0" "50" "12" "122292625" "122292625" "subst" "0.000369513" "00006" "HPD_000012" "g.122292625A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs545913399" "0" "" "" "g.121854719A>G" "" "VUS" "" "0000787487" "0" "70" "12" "122277904" "122277904" "subst" "0.00203042" "00000" "HPD_000001" "g.122277904G>C" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.121839998G>C" "" "likely pathogenic" "" "0000853290" "0" "90" "12" "122295713" "122295713" "subst" "8.12599E-6" "02325" "HPD_000005" "g.122295713G>A" "" "" "" "HPD(NM_002150.3):c.43C>T (p.R15*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925574" "0" "30" "12" "122277904" "122277904" "subst" "0.00203042" "02325" "HPD_000001" "g.122277904G>C" "" "" "" "HPD(NM_001171993.1):c.888C>G (p.I296M), HPD(NM_002150.2):c.1005C>G (p.(Ile335Met)), HPD(NM_002150.3):c.1005C>G (p.I335M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925575" "0" "30" "12" "122287613" "122287613" "subst" "0.00124682" "02326" "HPD_000013" "g.122287613C>T" "" "" "" "HPD(NM_002150.3):c.498G>A (p.M166I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980096" "0" "50" "12" "122281629" "122281629" "subst" "8.93735E-5" "01804" "HPD_000014" "g.122281629A>G" "" "" "" "HPD(NM_002150.3):c.941T>C (p.(Ile314Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000988608" "1" "50" "12" "122284815" "122284815" "subst" "4.06326E-6" "00006" "HPD_000015" "g.122284815C>T" "1/8 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.121846909C>T" "" "VUS" "" "0000988630" "2" "70" "12" "0" "0" "" "" "00006" "PTPRQ_000000" "g.?" "1/8 case chromosomes" "{PMID:Wang 2019:31737040}" "" "916C>T (R306X" "" "Germline" "" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000999783" "0" "30" "12" "122277904" "122277904" "subst" "0.00203042" "01804" "HPD_000001" "g.122277904G>C" "" "" "" "HPD(NM_001171993.1):c.888C>G (p.I296M), HPD(NM_002150.2):c.1005C>G (p.(Ile335Met)), HPD(NM_002150.3):c.1005C>G (p.I335M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999784" "0" "50" "12" "122285083" "122285083" "subst" "1.21818E-5" "01804" "HPD_000016" "g.122285083C>T" "" "" "" "HPD(NM_002150.2):c.634G>A (p.(Val212Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999785" "0" "50" "12" "122292662" "122292662" "subst" "0" "01804" "HPD_000017" "g.122292662G>A" "" "" "" "HPD(NM_002150.2):c.361C>T (p.(Pro121Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999786" "0" "30" "12" "122292663" "122292663" "subst" "0" "01804" "HPD_000018" "g.122292663C>A" "" "" "" "HPD(NM_002150.2):c.360G>T (p.(Glu120Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999787" "0" "30" "12" "122294508" "122294508" "subst" "4.06303E-6" "02325" "HPD_000019" "g.122294508C>A" "" "" "" "HPD(NM_002150.3):c.222G>T (p.A74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999788" "0" "50" "12" "122295311" "122295311" "subst" "2.84264E-5" "01804" "HPD_000020" "g.122295311C>T" "" "" "" "HPD(NM_002150.2):c.121G>A (p.(Gly41Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039025" "0" "50" "12" "122281735" "122281735" "subst" "4.06128E-6" "02325" "HPD_000021" "g.122281735G>A" "" "" "" "HPD(NM_002150.3):c.835C>T (p.R279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039026" "0" "50" "12" "122294234" "122294234" "subst" "3.65461E-5" "01804" "HPD_000022" "g.122294234A>G" "" "" "" "HPD(NM_002150.3):c.320T>C (p.(Val107Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039027" "0" "50" "12" "122295253" "122295253" "subst" "7.31006E-5" "01804" "HPD_000023" "g.122295253T>C" "" "" "" "HPD(NM_002150.3):c.179A>G (p.(His60Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039028" "0" "50" "12" "122295664" "122295664" "subst" "0" "01804" "HPD_000024" "g.122295664T>C" "" "" "" "HPD(NM_002150.3):c.92A>G (p.(Gln31Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039029" "0" "30" "12" "122317406" "122317410" "dup" "0" "01804" "HPD_000025" "g.122317406_122317410dup" "" "" "" "HPD(NM_001171993.2):c.-447+8938_-447+8942dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046354" "0" "50" "12" "122294237" "122294237" "subst" "0" "02325" "HPD_000026" "g.122294237A>G" "" "" "" "HPD(NM_002150.3):c.317T>C (p.I106T)" "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 HPD ## Count = 31 "{{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}}" "0000281404" "00009595" "10" "97" "0" "97" "0" "c.97=" "r.(=)" "p.(Ala33=)" "" "0000285117" "00009595" "50" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Ile335Met)" "" "0000323180" "00009595" "50" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Thr294Met)" "" "0000323181" "00009595" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Gly53Ser)" "" "0000546904" "00009595" "30" "955" "-4" "955" "-4" "c.955-4C>T" "r.spl?" "p.?" "" "0000546905" "00009595" "30" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282Lys)" "" "0000546906" "00009595" "70" "505" "0" "505" "0" "c.505dup" "r.(?)" "p.(Leu169ProfsTer4)" "" "0000648484" "00009595" "30" "1018" "0" "1018" "0" "c.1018G>T" "r.(?)" "p.(Val340Leu)" "" "0000648485" "00009595" "30" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Ile335Met)" "" "0000669149" "00009595" "30" "1018" "0" "1018" "0" "c.1018G>T" "r.(?)" "p.(Val340Leu)" "" "0000723884" "00009595" "30" "415" "-4" "415" "-4" "c.415-4G>A" "r.spl?" "p.?" "" "0000786889" "00009595" "50" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Phe133Ser)" "7" "0000787487" "00009595" "70" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Ile335Met)" "13" "0000853290" "00009595" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Ter)" "" "0000925574" "00009595" "30" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Ile335Met)" "" "0000925575" "00009595" "30" "498" "0" "498" "0" "c.498G>A" "r.(?)" "p.(Met166Ile)" "" "0000980096" "00009595" "50" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Ile314Thr)" "" "0000988608" "00009595" "50" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Ala262Thr)" "" "0000988630" "00009595" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000999783" "00009595" "30" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Ile335Met)" "" "0000999784" "00009595" "50" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Val212Met)" "" "0000999785" "00009595" "50" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Pro121Ser)" "" "0000999786" "00009595" "30" "360" "0" "360" "0" "c.360G>T" "r.(?)" "p.(Glu120Asp)" "" "0000999787" "00009595" "30" "222" "0" "222" "0" "c.222G>T" "r.(?)" "p.(=)" "" "0000999788" "00009595" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Gly41Ser)" "" "0001039025" "00009595" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "0001039026" "00009595" "50" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Val107Ala)" "" "0001039027" "00009595" "50" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(His60Arg)" "" "0001039028" "00009595" "50" "92" "0" "92" "0" "c.92A>G" "r.(?)" "p.(Gln31Arg)" "" "0001039029" "00009595" "30" "-20664" "0" "-20660" "0" "c.-20664_-20660dup" "r.(?)" "p.(=)" "" "0001046354" "00009595" "50" "317" "0" "317" "0" "c.317T>C" "r.(?)" "p.(Ile106Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000291795" "0000648484" "0000291796" "0000648485" "0000305461" "0000669149" "0000375538" "0000786889" "0000375538" "0000787487" "0000453846" "0000988608" "0000453846" "0000988630"