### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PURA) # 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}}" "PURA" "purine-rich element binding protein A" "5" "q31" "unknown" "NG_041813.1" "UD_136090411010" "" "https://www.LOVD.nl/PURA" "" "1" "9701" "5813" "600473" "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/PURA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-17 16:31:35" "00000" "2024-08-28 13:16:32" ## 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}}" "00017191" "PURA" "purine-rich element binding protein A" "001" "NM_005859.4" "" "NP_005850.1" "" "" "" "-59" "5235" "969" "139493708" "139499001" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04635" "NEDRIHF;MRD31" "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" "AD" "616158" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2022-09-15 14:30:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PURA" "04635" ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00050519" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050591" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050646" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080898" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00103892" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5932_1" "00144524" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00213138" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00287159" "" "" "" "1" "" "03282" "" "" "M" "no" "" "20y" "0" "" "" "" "SL2-137" "00299704" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00303075" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat117" "00305991" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Denmark" "" "0" "" "" "" "Pat22" "00305992" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Denmark" "" "0" "" "" "" "Pat23" "00307028" "" "" "" "1" "" "03219" "" "" "" "" "India" "" "0" "" "" "South Indian" "" "00380415" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00391877" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "136P" "00412735" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "200989" "00417206" "" "" "" "1" "" "03430" "" "" "" "" "" "" "" "" "" "" "" "00417276" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417277" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417278" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417279" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417280" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417281" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417282" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417283" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417284" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417285" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417322" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417323" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417324" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417325" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417326" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00417327" "" "" "" "1" "" "03430" "" "" "" "" "" "" "0" "" "" "" "" "00419472" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20166" "00419589" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8070" "00436595" "" "" "" "1" "" "04116" "" "" "F" "no" "" "" "" "" "" "" "31991" "00438290" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat8" "00440385" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2708.1" "00440403" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3627.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 40 "{{individualid}}" "{{diseaseid}}" "00050519" "00198" "00050575" "00198" "00050591" "00198" "00050646" "00198" "00080898" "04635" "00103892" "00198" "00144524" "00198" "00213138" "00198" "00287159" "00198" "00299704" "00198" "00303075" "05521" "00305991" "04270" "00305992" "04270" "00307028" "05611" "00380415" "00198" "00391877" "00139" "00412735" "04635" "00417206" "04635" "00417276" "04635" "00417277" "04635" "00417278" "04635" "00417279" "04635" "00417280" "04635" "00417281" "04635" "00417282" "04635" "00417283" "04635" "00417284" "04635" "00417285" "04635" "00417322" "04635" "00417323" "04635" "00417324" "04635" "00417325" "04635" "00417326" "04635" "00417327" "04635" "00419472" "00198" "00419589" "00198" "00436595" "00198" "00438290" "04270" "00440385" "00198" "00440403" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04270, 04635, 05521, 05611 ## Count = 21 "{{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}}" "0000037131" "00198" "00050519" "00006" "Isolated (sporadic)" "" "microcephaly, global developmental delay, facial asymmetry, strabismus, hypertelorism, bilateral ptosis, overlapping toe, anxiety" "" "" "" "" "" "" "" "" "" "" "" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000037203" "00198" "00050591" "00006" "Isolated (sporadic)" "" "specific learning disability, generalized hypotonia, cafe-au-lait spot, unsteady gait" "" "" "" "" "" "" "" "" "" "" "" "0000037258" "00198" "00050646" "00006" "Isolated (sporadic)" "" "global developmental delay, delayed speech and language development, delayed cns myelination, epicanthus, short nose, deep philtrum, edema" "" "" "" "" "" "" "" "" "" "" "" "0000060467" "04635" "00080898" "01758" "Isolated (sporadic)" "" "Mental retardation, autosomal dominant 31 (OMIM:616158)" "" "" "" "" "" "" "" "" "" "" "" "0000081819" "00198" "00103892" "00006" "Isolated (sporadic)" "" "developmental delay, intellectual disability, seizures, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000117264" "00198" "00144524" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Gait ataxia (HP:0002066); Nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000161615" "00198" "00213138" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Delayed myelination (HP:0012448); Secundum atrial septal defect (HP:0001684); Poor coordination (HP:0002370)" "" "" "" "" "" "" "" "" "" "" "" "0000222706" "00198" "00287159" "03282" "Familial, autosomal dominant" "" "global developmental delay, short stature, legal blindness, epilepsy, hypotonia, eye anomalies, absent speech, failure to thrive" "" "" "" "" "" "" "" "" "" "" "" "0000227009" "00198" "00299704" "01807" "Unknown" "" "Macrocephaly (HP:0000256); Global developmental delay (HP:0001263); Abnormality of movement (HP:0100022)" "" "" "" "" "" "" "" "" "" "" "" "0000230158" "05521" "00303075" "00006" "Isolated (sporadic)" "" "Neonatal Epileptic Encephalopathy; age onset neonatal" "" "" "" "" "" "" "" "" "" "seizures" "" "0000231837" "04270" "00305991" "00006" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000231838" "04270" "00305992" "00006" "Isolated (sporadic)" "39y" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000232901" "05611" "00307028" "03219" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MRD31" "neurodevelopmental disorder" "" "0000274265" "00198" "00380415" "01807" "Unknown" "" "Preauricular skin tag (HP:0000384); Muscular hypotonia (HP:0001252); Motor delay (HP:0001270); Plagiocephaly (HP:0001357); Overgrowth (HP:0001548)" "" "" "" "" "" "" "" "" "" "" "" "0000304726" "04635" "00412735" "01164" "Isolated (sporadic)" "11y" "Macrocephaly, Absent speech, Gait disturbance, Motor delay, Global developmental delay, Tall stature" "" "" "" "" "" "" "" "" "" "" "" "0000310753" "00198" "00419472" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000310870" "00198" "00419589" "02300" "Isolated (sporadic)" "7m" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000328194" "04270" "00438290" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001942 metabolic acidosis; HP:0008360 neonatal hypoproteinemia" "5m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330295" "00198" "00440385" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant mental retardation-31 (MIM #616158)" "" "" "0000330313" "00198" "00440403" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant mental retardation-31 (MIM #616158)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050464" "00050519" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050536" "00050591" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050591" "00050646" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081010" "00080898" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104350" "00103892" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000145381" "00144524" "0" "01807" "01807" "2017-12-16 16:30:53" "" "" "SEQ" "DNA" "" "" "0000214211" "00213138" "1" "01807" "01807" "2019-01-11 11:18:46" "" "" "SEQ" "DNA" "" "" "0000288324" "00287159" "1" "03282" "03282" "2020-02-12 23:05:06" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000300814" "00299704" "1" "01807" "01807" "2020-04-20 10:40:01" "" "" "SEQ" "DNA" "" "" "0000304200" "00303075" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000307121" "00305991" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000307122" "00305992" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000308168" "00307028" "1" "03219" "03219" "2020-07-28 06:58:18" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000381629" "00380415" "1" "01807" "01807" "2021-08-16 15:29:01" "" "" "SEQ" "DNA" "" "" "0000393119" "00391877" "1" "02494" "02494" "2021-11-19 13:33:29" "" "" "SEQ-NG" "DNA" "" "" "0000414005" "00412735" "1" "01164" "01164" "2022-07-04 12:57:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000418494" "00417206" "1" "03430" "03430" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418568" "00417276" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418569" "00417277" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418570" "00417278" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418571" "00417279" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418572" "00417280" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418573" "00417281" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418574" "00417282" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418575" "00417283" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418576" "00417284" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418577" "00417285" "1" "03430" "00006" "2022-09-14 10:11:13" "03430" "2022-09-14 10:58:06" "SEQ-NG-I" "DNA" "" "" "0000418614" "00417322" "1" "03430" "00006" "2022-09-14 11:07:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000418615" "00417323" "1" "03430" "00006" "2022-09-14 11:07:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000418616" "00417324" "1" "03430" "00006" "2022-09-14 11:07:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000418617" "00417325" "1" "03430" "00006" "2022-09-14 11:07:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000418618" "00417326" "1" "03430" "00006" "2022-09-14 11:07:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000418619" "00417327" "1" "03430" "00006" "2022-09-14 11:07:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000420776" "00419472" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420893" "00419589" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000438079" "00436595" "1" "04116" "04116" "2023-09-22 01:14:11" "" "" "SEQ-NG" "DNA" "" "" "0000439772" "00438290" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441870" "00440385" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441888" "00440403" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000050464" "PURA" "0000050536" "PURA" "0000050591" "PURA" "0000081010" "PURA" "0000104350" "PURA" "0000304200" "PURA" "0000307121" "PURA" "0000307122" "PURA" "0000308168" "PURA" "0000414005" "PURA" "0000418494" "PURA" "0000418568" "PURA" "0000418569" "PURA" "0000418570" "PURA" "0000418571" "PURA" "0000418572" "PURA" "0000418573" "PURA" "0000418574" "PURA" "0000418575" "PURA" "0000418576" "PURA" "0000418577" "PURA" "0000418614" "PURA" "0000418615" "PURA" "0000418616" "PURA" "0000418617" "PURA" "0000418618" "PURA" "0000418619" "PURA" ## 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 = 64 "{{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}}" "0000079444" "0" "90" "5" "139494613" "139494613" "del" "0" "00006" "PURA_000001" "g.139494613del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.140115028del" "" "pathogenic" "" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000079516" "0" "90" "5" "139494382" "139494382" "subst" "0" "00006" "PURA_000002" "g.139494382A>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.140114797A>T" "" "pathogenic" "" "0000079571" "0" "90" "5" "139494492" "139494493" "del" "0" "00006" "PURA_000003" "g.139494492_139494493del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "g.140114907_140114908del" "" "De novo" "" "" "0" "" "" "g.140114904_140114909delinsCGT" "" "pathogenic" "" "0000130096" "0" "70" "5" "139494268" "139494268" "del" "0" "01758" "PURA_000004" "g.139494268del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.140114683del" "" "likely pathogenic" "ACMG" "0000169030" "1" "90" "5" "139494322" "139494322" "subst" "0" "00006" "PURA_000005" "g.139494322C>T" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.140114737C>T" "" "pathogenic" "" "0000236494" "0" "90" "5" "139493925" "139493925" "dup" "0" "01807" "PURA_000006" "g.139493925dup" "" "" "" "dupG" "" "Unknown" "" "" "0" "" "" "g.140114340dup" "" "pathogenic" "" "0000306640" "0" "50" "5" "139494272" "139494272" "subst" "0" "01943" "PURA_000010" "g.139494272G>A" "" "" "" "PURA(NM_005859.4):c.506G>A (p.R169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114687G>A" "" "VUS" "" "0000306641" "0" "70" "5" "139494346" "139494346" "subst" "0" "01943" "PURA_000012" "g.139494346G>A" "" "" "" "PURA(NM_005859.4):c.580G>A (p.G194R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114761G>A" "" "likely pathogenic" "" "0000330556" "0" "50" "5" "139493889" "139493894" "dup" "0" "01804" "PURA_000007" "g.139493889_139493894dup" "" "" "" "PURA(NM_005859.4):c.121_122insGCGGCA (p.(Gly41_Gly42insGlySer))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114304_140114309dup" "" "VUS" "" "0000330557" "0" "70" "5" "139493925" "139493925" "del" "0" "01804" "PURA_000008" "g.139493925del" "" "" "" "PURA(NM_005859.4):c.154delG (p.(Leu54CysfsTer24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114340del" "" "likely pathogenic" "" "0000330558" "0" "70" "5" "139494236" "139494236" "subst" "0" "01804" "PURA_000009" "g.139494236T>G" "" "" "" "PURA(NM_005859.4):c.470T>G (p.(Met157Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114651T>G" "" "likely pathogenic" "" "0000330559" "0" "50" "5" "139494338" "139494338" "subst" "0" "01804" "PURA_000011" "g.139494338C>T" "" "" "" "PURA(NM_005859.4):c.572C>T (p.(Pro191Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114753C>T" "" "VUS" "" "0000341237" "0" "70" "5" "139494331" "139494331" "subst" "0" "02327" "PURA_000018" "g.139494331G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114746G>C" "" "likely pathogenic" "" "0000342398" "0" "50" "5" "139494500" "139494500" "subst" "0" "02327" "PURA_000022" "g.139494500G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114915G>C" "" "VUS" "" "0000344971" "0" "90" "5" "139494001" "139494001" "subst" "0" "02327" "PURA_000014" "g.139494001C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114416C>T" "" "pathogenic" "" "0000349884" "0" "90" "5" "139494105" "139494105" "subst" "0" "02327" "PURA_000017" "g.139494105C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114520C>G" "" "pathogenic" "" "0000350406" "0" "70" "5" "139494441" "139494442" "ins" "0" "02327" "PURA_000020" "g.139494441_139494442insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140114856_140114857insA" "" "likely pathogenic" "" "0000446153" "0" "90" "5" "139494477" "139494477" "dup" "0" "01807" "PURA_000023" "g.139494477dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.140114892dup" "" "pathogenic" "" "0000524433" "0" "30" "5" "139493826" "139493826" "subst" "0" "02327" "PURA_000024" "g.139493826C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140114241C>T" "" "likely benign" "" "0000524434" "0" "30" "5" "139493868" "139493885" "del" "0" "02325" "PURA_000025" "g.139493868_139493885del" "" "" "" "PURA(NM_005859.5):c.102_119delTGGTGGCGGCGGGGGCGG (p.G37_G42del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140114283_140114300del" "" "likely benign" "" "0000524436" "0" "30" "5" "139493910" "139493912" "dup" "0" "02325" "PURA_000027" "g.139493910_139493912dup" "" "" "" "PURA(NM_005859.5):c.144_146dupCGG (p.G49dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140114325_140114327dup" "" "likely benign" "" "0000524438" "0" "30" "5" "139494201" "139494201" "subst" "0" "02327" "PURA_000029" "g.139494201C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140114616C>G" "" "likely benign" "" "0000609521" "0" "90" "5" "139494073" "139494074" "dup" "0" "02329" "PURA_000030" "g.139494073_139494074dup" "" "" "" "PURA(NM_005859.5):c.307_308dupTC (p.M104Pfs*122)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140114488_140114489dup" "" "pathogenic" "" "0000609522" "0" "30" "5" "139494155" "139494155" "subst" "0" "01804" "PURA_000031" "g.139494155C>T" "" "" "" "PURA(NM_005859.4):c.389C>T (p.(Pro130Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140114570C>T" "" "likely benign" "" "0000644237" "0" "70" "5" "139493956" "139493956" "subst" "0" "03282" "PURA_000032" "g.139493956A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.140114371A>T" "" "pathogenic (dominant)" "" "0000663713" "0" "70" "5" "139494115" "139494115" "subst" "0" "01807" "PURA_000033" "g.139494115T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.140114530T>G" "" "likely pathogenic" "" "0000667613" "0" "70" "5" "139494647" "139494647" "dup" "0" "00006" "PURA_000034" "g.139494647dup" "" "" "" "881dupA" "" "De novo" "" "" "0" "" "" "g.140115062dup" "" "likely pathogenic (dominant)" "ACMG" "0000673686" "0" "90" "5" "139494253" "139494253" "subst" "0" "00006" "PURA_000036" "g.139494253C>T" "" "{PMID:Johannesen 2020:32427350}" "" "" "ACMG PVS1, PM2, PM6, PP5" "De novo" "" "" "0" "" "" "g.140114668C>T" "" "pathogenic (dominant)" "ACMG" "0000673687" "0" "70" "5" "139493963" "139493963" "subst" "0" "00006" "PURA_000035" "g.139493963T>C" "" "{PMID:Johannesen 2020:32427350}" "" "" "ACMG PM2, PM6, PP2, PP3" "De novo" "" "" "0" "" "" "g.140114378T>C" "" "likely pathogenic (dominant)" "ACMG" "0000675009" "0" "90" "5" "139493944" "139493944" "subst" "0" "03219" "PURA_000037" "g.139493944G>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000677411" "0" "50" "5" "139494093" "139494093" "subst" "0" "02327" "PURA_000038" "g.139494093G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720215" "0" "50" "5" "139493960" "139493960" "subst" "0" "02327" "PURA_000039" "g.139493960G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000795119" "0" "70" "5" "139494609" "139494609" "del" "0" "01807" "PURA_000040" "g.139494609del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.140115024del" "" "likely pathogenic" "" "0000823738" "0" "50" "5" "139494244" "139494244" "subst" "0" "02494" "PURA_000042" "g.139494244A>G" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000871594" "0" "90" "5" "139494343" "139494343" "subst" "0" "01164" "PURA_000043" "g.139494343C>T" "" "" "" "" "ACMG PVS1, PS2_MOD, PM2_SUP (confirmed de novo in trio-exome sequencing)" "De novo" "-" "" "0" "" "" "g.140114758C>T" "" "pathogenic (dominant)" "ACMG" "0000878265" "0" "90" "5" "139494458" "139494458" "subst" "0" "03430" "PURA_000044" "g.139494458T>G" "" "" "" "g.7038G>T" "" "De novo" "" "" "0" "" "" "g.140114873T>G" "" "pathogenic (dominant)" "ACMG" "0000878286" "0" "70" "5" "139493808" "139493809" "del" "0" "03430" "PURA_000059" "g.139493808_139493809del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.140114223_140114224del" "" "likely pathogenic" "ACMG" "0000878375" "0" "90" "5" "139494341" "139494341" "subst" "0" "03430" "PURA_000045" "g.139494341C>T" "" "" "" "g.6921G>C" "" "De novo" "" "" "0" "" "" "g.140114756C>T" "" "pathogenic (dominant)" "ACMG" "0000878376" "0" "50" "5" "139494224" "139494224" "subst" "0" "03430" "PURA_000046" "g.139494224G>C" "" "" "" "g.6804C>G" "" "De novo" "" "" "0" "" "" "g.140114639G>C" "" "VUS" "ACMG" "0000878377" "0" "70" "5" "139493776" "139493776" "subst" "0" "03430" "PURA_000047" "g.139493776C>T" "" "" "" "g.6356C>T" "" "De novo" "" "" "0" "" "" "g.140114191C>T" "" "likely pathogenic" "ACMG" "0000878378" "0" "50" "5" "139494349" "139494349" "subst" "0" "03430" "PURA_000048" "g.139494349C>G" "" "" "" "g.6929A>C" "" "De novo" "" "" "0" "" "" "g.140114764C>G" "" "VUS" "ACMG" "0000878379" "0" "50" "5" "139494578" "139494578" "subst" "0" "03430" "PURA_000049" "g.139494578T>C" "" "" "" "g.7158C>T" "" "De novo" "" "" "0" "" "" "g.140114993T>C" "" "VUS" "ACMG" "0000878380" "0" "70" "5" "139494272" "139494272" "subst" "0" "03430" "PURA_000050" "g.139494272G>C" "" "" "" "g.6852G>C" "" "De novo" "" "" "0" "" "" "g.140114687G>C" "" "likely pathogenic" "ACMG" "0000878381" "0" "70" "5" "139493984" "139493984" "subst" "0" "03430" "PURA_000051" "g.139493984T>G" "" "" "" "g.6564G>T" "" "De novo" "" "" "0" "" "" "g.140114399T>G" "" "likely pathogenic" "ACMG" "0000878382" "0" "90" "5" "139494316" "139494316" "subst" "0" "03430" "PURA_000052" "g.139494316C>T" "" "" "" "g.6896G>C" "" "De novo" "" "" "0" "" "" "g.140114731C>T" "" "likely pathogenic" "ACMG" "0000878383" "0" "90" "5" "139494196" "139494196" "subst" "0" "03430" "PURA_000053" "g.139494196A>T" "" "" "" "g.6776T>A" "" "De novo" "" "" "0" "" "" "g.140114611A>T" "" "likely pathogenic" "ACMG" "0000878384" "0" "90" "5" "139493925" "139493925" "dup" "0" "03430" "PURA_000006" "g.139493925dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.140114340dup" "" "pathogenic" "ACMG" "0000878422" "0" "90" "5" "139494215" "139494215" "del" "0" "03430" "PURA_000054" "g.139494215del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.140114630del" "" "pathogenic" "ACMG" "0000878423" "0" "90" "5" "139494463" "139494465" "del" "0" "03430" "PURA_000021" "g.139494463_139494465del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.140114878_140114880del" "" "pathogenic" "ACMG" "0000878424" "0" "90" "5" "139494297" "139494297" "del" "0" "03430" "PURA_000055" "g.139494297del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.140114712del" "" "pathogenic" "ACMG" "0000878425" "0" "70" "5" "139494631" "139494631" "del" "0" "03430" "PURA_000058" "g.139494631del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.140115046del" "" "likely pathogenic" "ACMG" "0000878426" "0" "90" "5" "139493838" "139493838" "del" "0" "03430" "PURA_000057" "g.139493838del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.140114253del" "" "pathogenic" "ACMG" "0000878427" "0" "70" "5" "139493915" "139493922" "dup" "0" "03430" "PURA_000056" "g.139493915_139493922dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.140114330_140114337dup" "" "likely pathogenic" "ACMG" "0000881135" "0" "90" "5" "139494578" "139494580" "del" "0" "02300" "PURA_000061" "g.139494578_139494580del" "" "{PMID:Marinakis 2021:34008892}" "" "c.810_812del" "ACMG PVS1, PM2, PP3, PP5" "Germline/De novo (untested)" "" "rs587782991" "0" "" "" "g.140114993_140114995del" "" "pathogenic (dominant)" "ACMG" "0000881252" "0" "70" "5" "139493990" "139493990" "subst" "0" "02300" "PURA_000060" "g.139493990T>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3" "De novo" "" "" "0" "" "" "g.140114405T>G" "" "likely pathogenic (dominant)" "ACMG" "0000912245" "0" "50" "5" "139494568" "139494568" "subst" "0" "02327" "PURA_000062" "g.139494568G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933604" "21" "70" "5" "139494062" "139494062" "subst" "0" "04116" "PURA_000063" "g.139494062G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.140114477G>T" "" "likely pathogenic" "ACMG" "0000935901" "0" "90" "5" "139493996" "139493996" "subst" "0" "00006" "PURA_000064" "g.139493996T>A" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.140114411T>A" "" "pathogenic (dominant)" "" "0000939812" "0" "70" "5" "139494196" "139494196" "subst" "0" "00006" "PURA_000065" "g.139494196A>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.140114611A>G" "" "likely pathogenic (dominant)" "" "0000939830" "0" "70" "5" "139494277" "139494277" "subst" "0" "00006" "PURA_000066" "g.139494277C>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.140114692C>G" "" "likely pathogenic (dominant)" "" "0000963455" "0" "90" "5" "139493973" "139493973" "dup" "0" "02327" "PURA_000067" "g.139493973dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994689" "0" "30" "5" "139493868" "139493876" "del" "0" "01804" "PURA_000069" "g.139493868_139493876del" "" "" "" "PURA(NM_005859.4):c.102_110delTGGTGGCGG (p.(Gly35_Gly37del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994690" "0" "50" "5" "139494188" "139494188" "subst" "0" "01804" "PURA_000070" "g.139494188G>C" "" "" "" "PURA(NM_005859.4):c.422G>C (p.(Arg141Pro))" "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 PURA ## Count = 64 "{{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}}" "0000079444" "00017191" "90" "847" "0" "847" "0" "c.847del" "r.(?)" "p.(Glu283Argfs*45)" "" "0000079500" "00017191" "00" "-8388608" "0" "6223519" "0" "c.-15665243_*6222550dup" "" "" "" "0000079516" "00017191" "00" "616" "0" "616" "0" "c.616A>T" "r.(?)" "p.(Ile206Phe)" "" "0000079571" "00017191" "90" "726" "0" "727" "0" "c.726_727del" "r.(?)" "p.(Phe243Tyrfs*50)" "" "0000130096" "00017191" "70" "502" "0" "502" "0" "c.502del" "r.(?)" "p.(Leu168Cysfs*57)" "" "0000169030" "00017191" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "1" "0000236494" "00017191" "90" "159" "0" "159" "0" "c.159dup" "r.(?)" "p.(Leu54Alafs*147)" "1" "0000306640" "00017191" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000306641" "00017191" "70" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Arg)" "" "0000330556" "00017191" "50" "123" "0" "128" "0" "c.123_128dup" "r.(?)" "p.(Ser43_Gly44dup)" "" "0000330557" "00017191" "70" "159" "0" "159" "0" "c.159del" "r.(?)" "p.(Leu54CysfsTer24)" "" "0000330558" "00017191" "70" "470" "0" "470" "0" "c.470T>G" "r.(?)" "p.(Met157Arg)" "" "0000330559" "00017191" "50" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Pro191Leu)" "" "0000341237" "00017191" "70" "565" "0" "565" "0" "c.565G>C" "r.(?)" "p.(Ala189Pro)" "" "0000342398" "00017191" "50" "734" "0" "734" "0" "c.734G>C" "r.(?)" "p.(Arg245Pro)" "" "0000344971" "00017191" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79Ter)" "" "0000349884" "00017191" "90" "339" "0" "339" "0" "c.339C>G" "r.(?)" "p.(Tyr113Ter)" "" "0000350406" "00017191" "70" "675" "0" "676" "0" "c.675_676insA" "r.(?)" "p.(Val226SerfsTer68)" "" "0000446153" "00017191" "90" "711" "0" "711" "0" "c.711dup" "r.(?)" "p.(Asn238Glnfs*56)" "" "0000524433" "00017191" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Ser20=)" "" "0000524434" "00017191" "30" "102" "0" "119" "0" "c.102_119del" "r.(?)" "p.(Gly37_Gly42del)" "" "0000524436" "00017191" "30" "144" "0" "146" "0" "c.144_146dup" "r.(?)" "p.(Gly49dup)" "" "0000524438" "00017191" "30" "435" "0" "435" "0" "c.435C>G" "r.(?)" "p.(Ser145Arg)" "" "0000609521" "00017191" "90" "307" "0" "308" "0" "c.307_308dup" "r.(?)" "p.(Met104ProfsTer122)" "" "0000609522" "00017191" "30" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Pro130Leu)" "" "0000644237" "00017191" "70" "190" "0" "190" "0" "c.190A>T" "r.(?)" "p.(Lys64*)" "" "0000663713" "00017191" "70" "349" "0" "349" "0" "c.349T>G" "r.(?)" "p.(Phe117Val)" "" "0000667613" "00017191" "70" "881" "0" "881" "0" "c.881dup" "r.(?)" "p.(Leu295Alafs*22)" "" "0000673686" "00017191" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "" "0000673687" "00017191" "70" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Val66Ala)" "" "0000675009" "00017191" "90" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Glu60*)" "1" "0000677411" "00017191" "50" "327" "0" "327" "0" "c.327G>T" "r.(?)" "p.(Glu109Asp)" "" "0000720215" "00017191" "50" "194" "0" "194" "0" "c.194G>C" "r.(?)" "p.(Arg65Pro)" "" "0000795119" "00017191" "70" "843" "0" "843" "0" "c.843del" "r.(?)" "p.(Gln282LysfsTer46)" "" "0000823738" "00017191" "50" "478" "0" "478" "0" "c.478A>G" "r.(?)" "p.(Lys160Glu)" "" "0000871594" "00017191" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Gln193*)" "1" "0000878265" "00017191" "90" "692" "0" "692" "0" "c.692T>G" "r.(?)" "p.(Phe231Cys)" "" "0000878286" "00017191" "70" "42" "0" "43" "0" "c.42_43del" "r.(?)" "p.(Leu15Glyfs*185)" "" "0000878375" "00017191" "90" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "" "0000878376" "00017191" "50" "458" "0" "458" "0" "c.458G>C" "r.(?)" "p.(Arg153Pro)" "" "0000878377" "00017191" "70" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Arg4*)" "" "0000878378" "00017191" "50" "583" "0" "583" "0" "c.583C>G" "r.(?)" "p.(Leu195Val)" "" "0000878379" "00017191" "50" "812" "0" "812" "0" "c.812T>C" "r.(?)" "p.(Phe271Ser)" "" "0000878380" "00017191" "70" "506" "0" "506" "0" "c.506G>C" "r.(?)" "p.(Arg169Pro)" "" "0000878381" "00017191" "70" "218" "0" "218" "0" "c.218T>G" "r.(?)" "p.(Phe73Cys)" "" "0000878382" "00017191" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Gln184*)" "" "0000878383" "00017191" "90" "430" "0" "430" "0" "c.430A>T" "r.(?)" "p.(Lys144*)" "" "0000878384" "00017191" "90" "159" "0" "159" "0" "c.159dup" "r.(?)" "p.(Leu54Alafs*147)" "" "0000878422" "00017191" "90" "449" "0" "449" "0" "c.449del" "r.(?)" "p.(Arg150Profs*75)" "" "0000878423" "00017191" "90" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Phe233del)" "" "0000878424" "00017191" "90" "531" "0" "531" "0" "c.531del" "r.(?)" "p.(Pro178Leufs*47)" "" "0000878425" "00017191" "70" "865" "0" "865" "0" "c.865del" "r.(?)" "p.(Arg289Glyfs*39)" "" "0000878426" "00017191" "90" "72" "0" "72" "0" "c.72del" "r.(?)" "p.(Gly25Alafs*53)" "" "0000878427" "00017191" "70" "149" "0" "156" "0" "c.149_156dup" "r.(?)" "p.(Gly53Profs*28)" "" "0000881135" "00017191" "90" "812" "0" "814" "0" "c.812_814del" "r.(?)" "p.(Phe271del)" "" "0000881252" "00017191" "70" "224" "0" "224" "0" "c.224T>G" "r.(?)" "p.(Leu75Arg)" "" "0000912245" "00017191" "50" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Gly268Arg)" "" "0000933604" "00017191" "70" "296" "0" "296" "0" "c.296G>T" "r.(?)" "p.(Arg99Leu)" "" "0000935901" "00017191" "90" "230" "0" "230" "0" "c.230T>A" "r.(?)" "p.(Val77Glu)" "" "0000939812" "00017191" "70" "430" "0" "430" "0" "c.430A>G" "r.(?)" "p.(Lys144Glu)" "1" "0000939830" "00017191" "70" "511" "0" "511" "0" "c.511C>G" "r.(?)" "p.(Arg171Gly)" "1" "0000963455" "00017191" "90" "207" "0" "207" "0" "c.207dup" "r.(?)" "p.(Asn70Glufs*131)" "" "0000994689" "00017191" "30" "102" "0" "110" "0" "c.102_110del" "r.(?)" "p.(Gly40_Gly42del)" "" "0000994690" "00017191" "50" "422" "0" "422" "0" "c.422G>C" "r.(?)" "p.(Arg141Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000050464" "0000079444" "0000050520" "0000079500" "0000050536" "0000079516" "0000050591" "0000079571" "0000081010" "0000130096" "0000104350" "0000169030" "0000145381" "0000236494" "0000214211" "0000446153" "0000288324" "0000644237" "0000300814" "0000663713" "0000304200" "0000667613" "0000307121" "0000673686" "0000307122" "0000673687" "0000308168" "0000675009" "0000381629" "0000795119" "0000393119" "0000823738" "0000414005" "0000871594" "0000418494" "0000878265" "0000418568" "0000878375" "0000418569" "0000878376" "0000418570" "0000878377" "0000418571" "0000878378" "0000418572" "0000878379" "0000418573" "0000878380" "0000418574" "0000878381" "0000418575" "0000878382" "0000418576" "0000878383" "0000418577" "0000878384" "0000418614" "0000878422" "0000418615" "0000878423" "0000418616" "0000878424" "0000418617" "0000878425" "0000418618" "0000878426" "0000418619" "0000878427" "0000420776" "0000881135" "0000420893" "0000881252" "0000438079" "0000933604" "0000439772" "0000935901" "0000441870" "0000939812" "0000441888" "0000939830"