### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PNPT1) # 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}}" "PNPT1" "polyribonucleotide nucleotidyltransferase 1" "2" "p15" "unknown" "NG_033012.1" "UD_134711654088" "" "https://www.LOVD.nl/PNPT1" "" "1" "23166" "87178" "610316" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PNPT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-02-19 11:19:47" "00000" "2025-05-05 21:14:00" ## 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}}" "00024229" "PNPT1" "polyribonucleotide nucleotidyltransferase 1" "001" "NM_033109.4" "" "NP_149100.2" "" "" "" "-87" "4526" "2352" "55921045" "55861198" "00006" "2017-02-19 11:18:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00211" "ENC" "encephalopathy (ENC)" "" "" "" "" "" "00006" "2013-09-24 21:07:28" "00006" "2015-12-07 07:11:25" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "01133" "COXPD13" "combined oxidative phosphorylation deficiency, type 13 (COXPD-13)" "AR" "614932" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01134" "DFNB70" "deafness, autosomal recessive, type 70 (DFNB-70)" "AR" "614934" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PNPT1" "01133" "PNPT1" "01134" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00155227" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Punjab" "29311637-Fam1" "00282298" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282299" "" "" "" "1" "" "00004" "{PMID:Posey 2016:26633545}, {PMID:Yang 2013:24088041}" "" "" "" "" "" "0" "" "" "" "" "00282300" "" "" "" "1" "" "00004" "{PMID:Posey 2016:26633545}, {PMID:Yang 2013:24088041}" "" "" "" "" "" "0" "" "" "" "" "00282301" "" "" "" "1" "" "00004" "{PMID:Slavotinek 2015:25457163}" "" "" "" "" "" "0" "" "" "" "" "00282302" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282303" "" "" "" "1" "" "00004" "{PMID:von Ameln 2012:23084290}" "" "" "" "" "" "0" "" "" "" "" "00282304" "" "" "" "1" "" "00004" "{PMID:Vedrenne 2012:23084291}" "" "" "" "" "" "0" "" "" "" "" "00282305" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282306" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282307" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282308" "" "" "" "1" "" "00004" "{PMID:Slavotinek 2015:25457163}" "" "" "" "" "" "0" "" "" "" "" "00282309" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282310" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00314707" "" "" "" "1" "" "00006" "{PMID:Slavotinek 2015:25457163}" "" "M" "" "United States" "" "0" "" "" "" "MCA350" "00399866" "" "" "" "1" "" "00006" "{PMID:Pennisi 2022:33199448}" "" "M" "no" "" "" "0" "" "" "" "Pat1" "00399867" "" "" "" "1" "" "00006" "{PMID:Pennisi 2022:33199448}" "" "M" "yes" "" "" "0" "" "" "" "Pat2" "00399868" "" "" "" "1" "" "00006" "{PMID:Pennisi 2022:33199448}" "" "F" "yes" "" "" "0" "" "" "" "Pat3" "00399869" "" "" "" "1" "" "00006" "{PMID:Pennisi 2022:33199448}" "" "F" "no" "" "" "0" "" "" "" "Pat4" "00399870" "" "" "" "1" "" "00006" "{PMID:Pennisi 2022:33199448}" "" "M" "no" "" "" "0" "" "" "" "Pat5" "00399871" "" "" "" "1" "" "00006" "{PMID:Pennisi 2022:33199448}" "" "M" "yes" "" "" "0" "" "" "" "Pat6" "00441469" "" "" "" "1" "" "00006" "{PMID:Vanniya 2022:34374074}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "" "India" "" "0" "" "" "" "DXDCHE32" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00155227" "00259" "00282299" "00198" "00282300" "00198" "00282303" "05086" "00282304" "00198" "00314707" "00198" "00399866" "00211" "00399867" "00211" "00399868" "00211" "00399869" "00211" "00399870" "00211" "00399871" "00211" "00441469" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00211, 00259, 01133, 01134, 05086 ## Count = 13 "{{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}}" "0000127755" "00259" "00155227" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity (BMI score ≥3)" "" "" "" "" "" "" "" "" "" "obesity" "" "0000216575" "00198" "00282299" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Combined oxidative phosphorylation deficiency 13" "" "0000216576" "00198" "00282300" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Combined oxidative phosphorylation deficiency 13" "" "0000216577" "00198" "00282304" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Respiratory chain deficiency" "" "0000218139" "05086" "00282303" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000238509" "00198" "00314707" "00006" "Familial, autosomal recessive" "" "see paper; severe delays, seizures, microcephaly, sensorineural deafness, chorioretinal defect, ..." "" "" "" "" "" "" "" "" "" "developmental eye defects" "" "0000292906" "00211" "00399866" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mitochondrial encephalopathy" "" "0000292907" "00211" "00399867" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mitochondrial encephalopathy" "" "0000292908" "00211" "00399868" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mitochondrial encephalopathy" "" "0000292909" "00211" "00399869" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mitochondrial encephalopathy" "" "0000292910" "00211" "00399870" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mitochondrial encephalopathy" "" "0000292911" "00211" "00399871" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mitochondrial encephalopathy" "" "0000330909" "05086" "00441469" "00006" "Familial, autosomal recessive" "56y" "prelingual bilateral profound sensorineural hearing loss, vestibular dysfunction, unilateral progressive vision loss" "" "" "" "" "" "" "" "" "DFNB70" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156091" "00155227" "1" "00006" "00006" "2018-03-18 13:02:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000283448" "00282298" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283449" "00282299" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283450" "00282300" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283451" "00282301" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283452" "00282302" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283453" "00282303" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283454" "00282304" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283455" "00282305" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283456" "00282306" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283457" "00282307" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283458" "00282308" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283459" "00282309" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283460" "00282310" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000315880" "00314707" "1" "00006" "00006" "2020-10-14 10:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401109" "00399866" "1" "00006" "00006" "2022-01-23 15:53:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401110" "00399867" "1" "00006" "00006" "2022-01-23 15:53:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401111" "00399868" "1" "00006" "00006" "2022-01-23 15:53:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401112" "00399869" "1" "00006" "00006" "2022-01-23 15:53:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401113" "00399870" "1" "00006" "00006" "2022-01-23 15:53:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401114" "00399871" "1" "00006" "00006" "2022-01-23 15:53:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442955" "00441469" "1" "00006" "00006" "2023-11-07 21:36:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000283448" "PNPT1" "0000283449" "PNPT1" "0000283450" "PNPT1" "0000283451" "PNPT1" "0000283452" "PNPT1" "0000283453" "PNPT1" "0000283454" "PNPT1" "0000283455" "PNPT1" "0000283456" "PNPT1" "0000283457" "PNPT1" "0000283458" "PNPT1" "0000283459" "PNPT1" "0000283460" "PNPT1" "0000315880" "PNPT1" ## 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 = 75 "{{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}}" "0000163050" "0" "70" "2" "55910966" "55910966" "subst" "2.4393E-5" "00707" "PNPT1_000001" "g.55910966C>T" "" "" "" "g.55910966G>A" "" "Germline" "" "" "0" "" "" "g.55683831C>T" "" "likely pathogenic" "" "0000163053" "0" "70" "2" "55910954" "55910954" "subst" "1.62554E-5" "00707" "PNPT1_000002" "g.55910954G>A" "" "" "" "g.55910954C>T" "" "Germline" "" "" "0" "" "" "g.55683819G>A" "" "likely pathogenic" "" "0000255205" "0" "30" "2" "55867845" "55867845" "subst" "0.00877301" "01943" "PNPT1_000005" "g.55867845A>G" "" "" "" "PNPT1(NM_033109.4):c.2070-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55640710A>G" "" "likely benign" "" "0000255206" "0" "30" "2" "55894121" "55894121" "del" "0" "01943" "PNPT1_000016" "g.55894121del" "" "" "" "PNPT1(NM_033109.4):c.1176+7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55666986del" "" "likely benign" "" "0000297204" "0" "10" "2" "55894247" "55894247" "subst" "0.441055" "02325" "PNPT1_000010" "g.55894247T>C" "" "" "" "PNPT1(NM_033109.5):c.1074-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55667112T>C" "" "benign" "" "0000297205" "0" "10" "2" "55883317" "55883317" "subst" "0.486119" "02325" "PNPT1_000006" "g.55883317G>T" "" "" "" "PNPT1(NM_033109.5):c.1390C>A (p.R464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55656182G>T" "" "benign" "" "0000297206" "0" "10" "2" "55863371" "55863371" "dup" "0" "02325" "PNPT1_000003" "g.55863371dup" "" "" "" "PNPT1(NM_033109.5):c.2352_*1insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55636236dup" "" "benign" "" "0000297207" "0" "10" "2" "55912120" "55912120" "subst" "0.432625" "02325" "PNPT1_000011" "g.55912120T>C" "" "" "" "PNPT1(NM_033109.5):c.361A>G (p.I121V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55684985T>C" "" "benign" "" "0000306042" "0" "30" "2" "55894232" "55894232" "subst" "0.00132377" "01943" "PNPT1_000009" "g.55894232T>A" "" "" "" "PNPT1(NM_033109.4):c.1074-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55667097T>A" "" "likely benign" "" "0000306043" "0" "50" "2" "55889149" "55889149" "subst" "9.16811E-5" "01943" "PNPT1_000008" "g.55889149C>T" "" "" "" "PNPT1(NM_033109.4):c.1189G>A (p.V397I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55662014C>T" "" "VUS" "" "0000306044" "0" "30" "2" "55920837" "55920837" "subst" "0.00252511" "01943" "PNPT1_000012" "g.55920837C>G" "" "" "" "PNPT1(NM_033109.4):c.122G>C (p.S41T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55693702C>G" "" "likely benign" "" "0000306045" "0" "30" "2" "55887325" "55887325" "subst" "0.00474692" "01943" "PNPT1_000007" "g.55887325C>T" "" "" "" "PNPT1(NM_033109.4):c.1251G>A (p.G417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55660190C>T" "" "likely benign" "" "0000306046" "0" "30" "2" "55863477" "55863477" "subst" "1.22373E-5" "01943" "PNPT1_000004" "g.55863477T>C" "" "" "" "PNPT1(NM_033109.4):c.2247A>G (p.R749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55636342T>C" "" "likely benign" "" "0000306047" "0" "50" "2" "55920882" "55920882" "subst" "0" "01943" "PNPT1_000013" "g.55920882C>T" "" "" "" "PNPT1(NM_033109.4):c.77G>A (p.R26Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55693747C>T" "" "VUS" "" "0000343063" "0" "50" "2" "55874502" "55874502" "subst" "0" "02327" "PNPT1_000015" "g.55874502G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55647367G>T" "" "VUS" "" "0000344951" "0" "50" "2" "55864698" "55864698" "subst" "4.87496E-5" "02327" "PNPT1_000014" "g.55864698G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55637563G>T" "" "VUS" "" "0000357965" "3" "50" "2" "55907850" "55907850" "subst" "0" "00006" "PNPT1_000017" "g.55907850C>G" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.55680715C>G" "" "VUS" "" "0000516463" "0" "50" "2" "55863511" "55863511" "subst" "0.000294971" "01943" "PNPT1_000018" "g.55863511C>T" "" "" "" "PNPT1(NM_033109.4):c.2213G>A (p.R738H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55636376C>T" "" "VUS" "" "0000516464" "0" "30" "2" "55864747" "55864747" "dup" "0" "01804" "PNPT1_000019" "g.55864747dup" "" "" "" "PNPT1(NM_033109.3):c.2149-5dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55637612dup" "" "likely benign" "" "0000516465" "0" "70" "2" "55874492" "55874492" "subst" "1.63562E-5" "01804" "PNPT1_000020" "g.55874492G>C" "" "" "" "PNPT1(NM_033109.3):c.1592C>G (p.(Thr531Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55647357G>C" "" "likely pathogenic" "" "0000516466" "0" "70" "2" "55874565" "55874565" "subst" "0.000215658" "01804" "PNPT1_000021" "g.55874565C>A" "" "" "" "PNPT1(NM_033109.3):c.1519G>T (p.(Ala507Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55647430C>A" "" "likely pathogenic" "" "0000516467" "0" "10" "2" "55883522" "55883522" "del" "0" "01943" "PNPT1_000022" "g.55883522del" "" "" "" "PNPT1(NM_033109.4):c.1285-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55656387del" "" "benign" "" "0000516470" "0" "30" "2" "55889107" "55889107" "subst" "0.000491382" "01804" "PNPT1_000024" "g.55889107C>T" "" "" "" "PNPT1(NM_033109.3):c.1231G>A (p.(Val411Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55661972C>T" "" "likely benign" "" "0000516471" "0" "30" "2" "55895019" "55895019" "subst" "0" "01943" "PNPT1_000025" "g.55895019T>C" "" "" "" "PNPT1(NM_033109.4):c.1051A>G (p.I351V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55667884T>C" "" "likely benign" "" "0000516472" "0" "30" "2" "55900032" "55900032" "subst" "0.000411092" "01943" "PNPT1_000026" "g.55900032G>A" "" "" "" "PNPT1(NM_033109.4):c.862C>T (p.H288Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55672897G>A" "" "likely benign" "" "0000516473" "0" "30" "2" "55906936" "55906936" "subst" "0.000651605" "01943" "PNPT1_000027" "g.55906936A>G" "" "" "" "PNPT1(NM_033109.4):c.566-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55679801A>G" "" "likely benign" "" "0000516474" "0" "30" "2" "55913588" "55913588" "subst" "0.000714099" "01943" "PNPT1_000028" "g.55913588T>A" "" "" "" "PNPT1(NM_033109.4):c.223-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55686453T>A" "" "likely benign" "" "0000608054" "0" "30" "2" "55870538" "55870538" "subst" "0.000320799" "01943" "PNPT1_000029" "g.55870538A>G" "" "" "" "PNPT1(NM_033109.4):c.1929T>C (p.D643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55643403A>G" "" "likely benign" "" "0000608055" "0" "30" "2" "55900042" "55900042" "subst" "0.00296147" "01943" "PNPT1_000030" "g.55900042C>G" "" "" "" "PNPT1(NM_033109.4):c.852G>C (p.V284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55672907C>G" "" "likely benign" "" "0000608056" "0" "30" "2" "55906829" "55906829" "subst" "0.000114491" "01943" "PNPT1_000031" "g.55906829T>C" "" "" "" "PNPT1(NM_033109.4):c.667A>G (p.K223E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55679694T>C" "" "likely benign" "" "0000608057" "0" "30" "2" "55910910" "55910911" "ins" "0" "01943" "PNPT1_000032" "g.55910910_55910911insTC" "" "" "" "PNPT1(NM_033109.4):c.453+10_453+11insAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55683775_55683776insTC" "" "likely benign" "" "0000608058" "0" "30" "2" "55910961" "55910961" "subst" "0.000288458" "01943" "PNPT1_000033" "g.55910961T>C" "" "" "" "PNPT1(NM_033109.4):c.412A>G (p.I138V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55683826T>C" "" "likely benign" "" "0000639190" "1" "77" "2" "55870312" "55870312" "subst" "1.21839E-5" "00004" "PNPT1_000034" "g.55870312C>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55643177C>T" "" "likely pathogenic" "" "0000639191" "1" "77" "2" "55874492" "55874492" "subst" "1.63562E-5" "00004" "PNPT1_000020" "g.55874492G>C" "" "{DB:DVD}, {PMID:Posey 2016:26633545}, {PMID:Yang 2013:24088041}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55647357G>C" "" "likely pathogenic" "" "0000639192" "1" "77" "2" "55874559" "55874559" "subst" "0.000931485" "00004" "PNPT1_000035" "g.55874559C>T" "" "{DB:DVD}, {PMID:Posey 2016:26633545}, {PMID:Yang 2013:24088041}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55647424C>T" "" "likely pathogenic" "" "0000639193" "1" "77" "2" "55874565" "55874565" "subst" "0.000215658" "00004" "PNPT1_000021" "g.55874565C>A" "" "{DB:DVD}, {PMID:Slavotinek 2015:25457163}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55647430C>A" "" "likely pathogenic" "" "0000639194" "1" "99" "2" "55882077" "55882077" "subst" "8.13716E-6" "00004" "PNPT1_000036" "g.55882077T>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55654942T>C" "" "pathogenic" "" "0000639195" "1" "99" "2" "55883283" "55883283" "subst" "0" "00004" "PNPT1_000037" "g.55883283T>C" "" "{DB:DVD}, {PMID:von Ameln 2012:23084290}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55656148T>C" "" "pathogenic" "" "0000639196" "1" "99" "2" "55894142" "55894142" "subst" "0" "00004" "PNPT1_000038" "g.55894142T>C" "" "{DB:DVD}, {PMID:Vedrenne 2012:23084291}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55667007T>C" "" "pathogenic" "" "0000639197" "1" "77" "2" "55899161" "55899161" "subst" "5.46241E-5" "00004" "PNPT1_000039" "g.55899161T>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55672026T>C" "" "likely pathogenic" "" "0000639198" "1" "77" "2" "55906921" "55906921" "subst" "4.1412E-6" "00004" "PNPT1_000040" "g.55906921C>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55679786C>T" "" "likely pathogenic" "" "0000639199" "1" "77" "2" "55908014" "55908014" "subst" "0.000146232" "00004" "PNPT1_000041" "g.55908014G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55680879G>A" "" "likely pathogenic" "" "0000639200" "1" "55" "2" "55910970" "55910970" "subst" "0" "00004" "PNPT1_000042" "g.55910970C>T" "" "{DB:DVD}, {PMID:Slavotinek 2015:25457163}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55683835C>T" "" "VUS" "" "0000639201" "1" "99" "2" "55912087" "55912087" "subst" "4.24398E-6" "00004" "PNPT1_000043" "g.55912087G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55684952G>A" "" "pathogenic" "" "0000639202" "1" "77" "2" "55912131" "55912131" "subst" "0" "00004" "PNPT1_000044" "g.55912131A>G" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55684996A>G" "" "likely pathogenic" "" "0000676689" "0" "50" "2" "55906928" "55906928" "subst" "0" "01943" "PNPT1_000045" "g.55906928C>A" "" "" "" "PNPT1(NM_033109.4):c.568G>T (p.A190S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697982" "3" "90" "2" "55910970" "55910970" "subst" "0" "00006" "PNPT1_000042" "g.55910970C>T" "" "{PMID:Slavotinek 2015:25457163}" "" "401-1G>A" "" "Germline" "" "" "0" "" "" "g.55683835C>T" "" "pathogenic (recessive)" "" "0000697985" "11" "90" "2" "55874565" "55874565" "subst" "0.000215658" "00006" "PNPT1_000021" "g.55874565C>A" "" "{PMID:Slavotinek 2015:25457163}" "" "" "" "Germline" "" "" "0" "" "" "g.55647430C>A" "" "pathogenic (recessive)" "" "0000718906" "0" "50" "2" "55883293" "55883293" "subst" "8.12995E-6" "01943" "PNPT1_000046" "g.55883293C>T" "" "" "" "PNPT1(NM_033109.4):c.1414G>A (p.V472I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718907" "0" "30" "2" "55906874" "55906874" "subst" "8.15814E-6" "01943" "PNPT1_000047" "g.55906874C>G" "" "" "" "PNPT1(NM_033109.4):c.622G>C (p.E208Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718908" "0" "50" "2" "55913533" "55913533" "subst" "0" "02329" "PNPT1_000048" "g.55913533G>C" "" "" "" "PNPT1(NM_033109.5):c.269C>G (p.P90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718909" "0" "50" "2" "55914777" "55914777" "subst" "0" "02329" "PNPT1_000049" "g.55914777T>G" "" "" "" "PNPT1(NM_033109.5):c.222+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800751" "0" "30" "2" "55900105" "55900105" "subst" "0.000386408" "01943" "PNPT1_000050" "g.55900105T>C" "" "" "" "PNPT1(NM_033109.4):c.789A>G (p.V263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800752" "0" "50" "2" "55908035" "55908035" "subst" "1.21891E-5" "01943" "PNPT1_000051" "g.55908035C>A" "" "" "" "PNPT1(NM_033109.4):c.472G>T (p.A158S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000834193" "1" "90" "2" "55874559" "55874559" "subst" "0.000931485" "00006" "PNPT1_000035" "g.55874559C>T" "" "{PMID:Pennisi 2022:33199448}" "" "" "" "Germline" "" "" "0" "" "" "g.55647424C>T" "" "pathogenic (recessive)" "" "0000834194" "3" "90" "2" "55874505" "55874506" "ins" "0" "00006" "PNPT1_000053" "g.55874505_55874506insTCA" "" "{PMID:Pennisi 2022:33199448}" "" "" "" "Germline" "" "" "0" "" "" "g.55647370_55647371insTCA" "" "pathogenic (recessive)" "" "0000834195" "3" "90" "2" "55883308" "55883308" "subst" "0" "00006" "PNPT1_000055" "g.55883308G>A" "" "{PMID:Pennisi 2022:33199448}" "" "" "" "Germline" "" "" "0" "" "" "g.55656173G>A" "" "pathogenic (recessive)" "" "0000834196" "1" "90" "2" "55882035" "55882035" "subst" "0" "00006" "PNPT1_000054" "g.55882035C>T" "" "{PMID:Pennisi 2022:33199448}" "" "" "" "Germline" "" "" "0" "" "" "g.55654900C>T" "" "pathogenic (recessive)" "" "0000834197" "1" "90" "2" "55914794" "55914794" "subst" "0" "00006" "PNPT1_000056" "g.55914794A>G" "" "{PMID:Pennisi 2022:33199448}" "" "" "" "Germline" "" "" "0" "" "" "g.55687659A>G" "" "pathogenic (recessive)" "" "0000834198" "3" "90" "2" "55910966" "55910966" "subst" "2.4393E-5" "00006" "PNPT1_000001" "g.55910966C>T" "" "{PMID:Pennisi 2022:33199448}" "" "" "" "Germline" "" "" "0" "" "" "g.55683831C>T" "" "pathogenic (recessive)" "" "0000834199" "2" "90" "2" "55874492" "55874492" "subst" "1.63562E-5" "00006" "PNPT1_000020" "g.55874492G>C" "" "{PMID:Pennisi 2022:33199448}" "" "" "" "Germline" "" "" "0" "" "" "g.55647357G>C" "" "pathogenic (recessive)" "" "0000834200" "2" "90" "2" "55874565" "55874565" "subst" "0.000215658" "00006" "PNPT1_000021" "g.55874565C>A" "" "{PMID:Pennisi 2022:33199448}" "" "" "" "Germline" "" "" "0" "" "" "g.55647430C>A" "" "pathogenic (recessive)" "" "0000834201" "2" "90" "2" "55867773" "55867773" "subst" "0" "00006" "PNPT1_000052" "g.55867773C>A" "" "{PMID:Pennisi 2022:33199448}" "" "" "" "Germline" "" "" "0" "" "" "g.55640638C>A" "" "pathogenic (recessive)" "" "0000858623" "0" "30" "2" "55870529" "55870529" "subst" "0.000921775" "01943" "PNPT1_000057" "g.55870529C>T" "" "" "" "PNPT1(NM_033109.4):c.1938G>A (p.T646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858624" "0" "30" "2" "55908014" "55908014" "subst" "0.000146232" "01943" "PNPT1_000041" "g.55908014G>A" "" "" "" "PNPT1(NM_033109.4):c.493C>T (p.P165S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000944308" "10" "90" "2" "55873605" "55873605" "subst" "0.000201019" "00006" "PNPT1_000058" "g.55873605T>C" "" "{PMID:Vanniya 2022:34374074}" "" "" "" "Germline" "" "" "0" "" "" "g.55646470T>C" "" "pathogenic (recessive)" "" "0000944309" "21" "90" "2" "55920822" "55920822" "subst" "0.000211661" "00006" "PNPT1_000059" "g.55920822G>C" "" "{PMID:Vanniya 2022:34374074}" "" "" "" "Germline" "" "" "0" "" "" "g.55693687G>C" "" "pathogenic (recessive)" "" "0000962243" "0" "50" "2" "55906909" "55906909" "subst" "0" "02325" "PNPT1_000060" "g.55906909A>G" "" "" "" "PNPT1(NM_033109.5):c.587T>C (p.I196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975369" "0" "50" "2" "55870294" "55870294" "subst" "0" "01804" "PNPT1_000061" "g.55870294T>G" "" "" "" "PNPT1(NM_033109.5):c.2068A>C (p.(Arg690=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992966" "0" "50" "2" "55863449" "55863449" "subst" "6.51259E-5" "01804" "PNPT1_000062" "g.55863449C>T" "" "" "" "PNPT1(NM_033109.4):c.2275G>A (p.(Val759Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992967" "0" "70" "2" "55882077" "55882077" "subst" "8.13716E-6" "01804" "PNPT1_000036" "g.55882077T>C" "" "" "" "PNPT1(NM_033109.4):c.1453A>G (p.(Met485Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992968" "0" "50" "2" "55889110" "55889110" "subst" "0" "01804" "PNPT1_000063" "g.55889110G>C" "" "" "" "PNPT1(NM_033109.4):c.1228C>G (p.(Gln410Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033422" "0" "50" "2" "55870495" "55870495" "subst" "8.12117E-6" "01804" "PNPT1_000064" "g.55870495G>A" "" "" "" "PNPT1(NM_033109.5):c.1972C>T (p.(His658Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033423" "0" "50" "2" "55873456" "55873456" "subst" "6.52114E-5" "01804" "PNPT1_000065" "g.55873456G>C" "" "" "" "PNPT1(NM_033109.5):c.1676C>G (p.(Ala559Gly))" "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 PNPT1 ## Count = 75 "{{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}}" "0000163050" "00024229" "70" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "0000163053" "00024229" "70" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Pro140Leu)" "5" "0000255205" "00024229" "30" "2070" "-5" "2070" "-5" "c.2070-5T>C" "r.spl?" "p.?" "" "0000255206" "00024229" "30" "1176" "7" "1176" "7" "c.1176+7del" "r.(=)" "p.(=)" "" "0000297204" "00024229" "10" "1074" "-19" "1074" "-19" "c.1074-19A>G" "r.(=)" "p.(=)" "" "0000297205" "00024229" "10" "1390" "0" "1390" "0" "c.1390C>A" "r.(?)" "p.(Arg464=)" "" "0000297206" "00024229" "10" "2363" "0" "2363" "0" "c.*11dup" "r.(?)" "p.(=)" "" "0000297207" "00024229" "10" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Ile121Val)" "" "0000306042" "00024229" "30" "1074" "-4" "1074" "-4" "c.1074-4A>T" "r.spl?" "p.?" "" "0000306043" "00024229" "50" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Val397Ile)" "" "0000306044" "00024229" "30" "122" "0" "122" "0" "c.122G>C" "r.(?)" "p.(Ser41Thr)" "" "0000306045" "00024229" "30" "1251" "0" "1251" "0" "c.1251G>A" "r.(?)" "p.(Gly417=)" "" "0000306046" "00024229" "30" "2247" "0" "2247" "0" "c.2247A>G" "r.(?)" "p.(Arg749=)" "" "0000306047" "00024229" "50" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Arg26Gln)" "" "0000343063" "00024229" "50" "1582" "0" "1582" "0" "c.1582C>A" "r.(?)" "p.(Arg528Ser)" "" "0000344951" "00024229" "50" "2185" "0" "2185" "0" "c.2185C>A" "r.(?)" "p.(Gln729Lys)" "" "0000357965" "00024229" "00" "562" "0" "562" "0" "c.562G>C" "r.(?)" "p.(Val188Leu)" "" "0000516463" "00024229" "50" "2213" "0" "2213" "0" "c.2213G>A" "r.(?)" "p.(Arg738His)" "" "0000516464" "00024229" "30" "2149" "-5" "2149" "-5" "c.2149-5dup" "r.spl?" "p.?" "" "0000516465" "00024229" "70" "1592" "0" "1592" "0" "c.1592C>G" "r.(?)" "p.(Thr531Arg)" "" "0000516466" "00024229" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Ala507Ser)" "" "0000516467" "00024229" "10" "1285" "-4" "1285" "-4" "c.1285-4del" "r.spl?" "p.?" "" "0000516470" "00024229" "30" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Val411Ile)" "" "0000516471" "00024229" "30" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Ile351Val)" "" "0000516472" "00024229" "30" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(His288Tyr)" "" "0000516473" "00024229" "30" "566" "-6" "566" "-6" "c.566-6T>C" "r.(=)" "p.(=)" "" "0000516474" "00024229" "30" "223" "-9" "223" "-9" "c.223-9A>T" "r.(=)" "p.(=)" "" "0000608054" "00024229" "30" "1929" "0" "1929" "0" "c.1929T>C" "r.(?)" "p.(Asp643=)" "" "0000608055" "00024229" "30" "852" "0" "852" "0" "c.852G>C" "r.(?)" "p.(Val284=)" "" "0000608056" "00024229" "30" "667" "0" "667" "0" "c.667A>G" "r.(?)" "p.(Lys223Glu)" "" "0000608057" "00024229" "30" "453" "10" "453" "11" "c.453+10_453+11insAG" "r.(=)" "p.(=)" "" "0000608058" "00024229" "30" "412" "0" "412" "0" "c.412A>G" "r.(?)" "p.(Ile138Val)" "" "0000639190" "00024229" "77" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Ala684Thr)" "25" "0000639191" "00024229" "77" "1592" "0" "1592" "0" "c.1592C>G" "r.(?)" "p.(Thr531Arg)" "19" "0000639192" "00024229" "77" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Val509Ile)" "19" "0000639193" "00024229" "77" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Ala507Ser)" "19" "0000639194" "00024229" "99" "1453" "0" "1453" "0" "c.1453A>G" "r.(?)" "p.(Met485Val)" "18" "0000639195" "00024229" "99" "1424" "0" "1424" "0" "c.1424A>G" "r.(?)" "p.(Glu475Gly)" "17" "0000639196" "00024229" "99" "1160" "0" "1160" "0" "c.1160A>G" "r.(?)" "p.(Gln387Arg)" "13" "0000639197" "00024229" "77" "887" "0" "887" "0" "c.887A>G" "r.(?)" "p.(Tyr296Cys)" "10" "0000639198" "00024229" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "8" "0000639199" "00024229" "77" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Pro165Ser)" "6" "0000639200" "00024229" "55" "404" "-1" "404" "-1" "c.404-1G>A" "r.spl?" "p.?" "4i" "0000639201" "00024229" "99" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132*)" "4" "0000639202" "00024229" "77" "350" "0" "350" "0" "c.350T>C" "r.(?)" "p.(Leu117Pro)" "4" "0000676689" "00024229" "50" "568" "0" "568" "0" "c.568G>T" "r.(?)" "p.(Ala190Ser)" "" "0000697982" "00024229" "90" "404" "-1" "404" "-1" "c.404-1G>A" "r.spl" "p.?" "" "0000697985" "00024229" "90" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Ala507Ser)" "" "0000718906" "00024229" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Val472Ile)" "" "0000718907" "00024229" "30" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Glu208Gln)" "" "0000718908" "00024229" "50" "269" "0" "269" "0" "c.269C>G" "r.(?)" "p.(Pro90Arg)" "" "0000718909" "00024229" "50" "222" "3" "222" "3" "c.222+3A>C" "r.spl?" "p.?" "" "0000800751" "00024229" "30" "789" "0" "789" "0" "c.789A>G" "r.(?)" "p.(Val263=)" "" "0000800752" "00024229" "50" "472" "0" "472" "0" "c.472G>T" "r.(?)" "p.(Ala158Ser)" "" "0000829418" "00024229" "50" "-6160223" "0" "8388607" "0" "c.-6160223_*28262964dup" "r.0?" "p.0?" "" "0000834193" "00024229" "90" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Val509Ile)" "" "0000834194" "00024229" "90" "1579" "0" "1580" "0" "c.1579_1580insGAT" "r.(?)" "p.(Tyr527Ter)" "" "0000834195" "00024229" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Pro467Ser)" "" "0000834196" "00024229" "90" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Gly499Arg)" "" "0000834197" "00024229" "90" "208" "0" "208" "0" "c.208T>C" "r.(?)" "p.(Ser70Pro)" "" "0000834198" "00024229" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "0000834199" "00024229" "90" "1592" "0" "1592" "0" "c.1592C>G" "r.(?)" "p.(Thr531Arg)" "" "0000834200" "00024229" "90" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Ala507Ser)" "" "0000834201" "00024229" "90" "2137" "0" "2137" "0" "c.2137G>T" "r.(?)" "p.(Asp713Tyr)" "" "0000858623" "00024229" "30" "1938" "0" "1938" "0" "c.1938G>A" "r.(?)" "p.(Thr646=)" "" "0000858624" "00024229" "30" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Pro165Ser)" "" "0000944308" "00024229" "90" "1619" "0" "1619" "0" "c.1619A>G" "r.(?)" "p.(Asn540Ser)" "" "0000944309" "00024229" "90" "137" "0" "137" "0" "c.137C>G" "r.(?)" "p.(Ala46Gly)" "" "0000962243" "00024229" "50" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Ile196Thr)" "" "0000975369" "00024229" "50" "2068" "0" "2068" "0" "c.2068A>C" "r.(?)" "p.(=)" "" "0000992966" "00024229" "50" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Met)" "" "0000992967" "00024229" "70" "1453" "0" "1453" "0" "c.1453A>G" "r.(?)" "p.(Met485Val)" "" "0000992968" "00024229" "50" "1228" "0" "1228" "0" "c.1228C>G" "r.(?)" "p.(Gln410Glu)" "" "0001033422" "00024229" "50" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(His658Tyr)" "" "0001033423" "00024229" "50" "1676" "0" "1676" "0" "c.1676C>G" "r.(?)" "p.(Ala559Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000156091" "0000357965" "0000283448" "0000639190" "0000283449" "0000639191" "0000283450" "0000639192" "0000283451" "0000639193" "0000283452" "0000639194" "0000283453" "0000639195" "0000283454" "0000639196" "0000283455" "0000639197" "0000283456" "0000639198" "0000283457" "0000639199" "0000283458" "0000639200" "0000283459" "0000639201" "0000283460" "0000639202" "0000315880" "0000697982" "0000315880" "0000697985" "0000401109" "0000834193" "0000401109" "0000834199" "0000401110" "0000834194" "0000401111" "0000834195" "0000401112" "0000834196" "0000401112" "0000834200" "0000401113" "0000834197" "0000401113" "0000834201" "0000401114" "0000834198" "0000442955" "0000944308" "0000442955" "0000944309"