### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRPH) # 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}}" "PRPH" "peripherin" "12" "q12-q13" "unknown" "NG_008354.1" "UD_132119045964" "" "https://www.LOVD.nl/PRPH" "" "1" "9461" "5630" "170710" "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/PRPH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-07-29 22:07:54" "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}}" "00016908" "PRPH" "peripherin" "001" "NM_006262.3" "" "NP_006253.2" "" "" "" "-75" "1758" "1413" "49688909" "49692481" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "00456" "ALS1" "sclerosis, lateral, amyotrophic, type 1 (ALS1)" "AD;AR" "105400" "" "" "" "00006" "2014-07-11 12:26:14" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PRPH" "00456" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00108467" "" "" "" "1" "" "01239" "{PMID:Hendee 2017:28722276}, {DOI:Hendee 2017:10.1002/humu.23299}" "3-generation family, 10 affecteds (6F, 4M), PatIII3" "M" "" "United States" "" "0" "" "" "white" "28722276-FamPatIII3" "00290730" "" "" "" "145" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290731" "" "" "" "119" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290732" "" "" "" "121" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290733" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304363" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304364" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304365" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00108467" "00198" "00290730" "00198" "00290731" "00198" "00290732" "00198" "00290733" "00198" "00304363" "00198" "00304364" "00198" "00304365" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00456 ## Count = 1 "{{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}}" "0000086063" "00198" "00108467" "01239" "Familial, autosomal dominant" "" "Congenital glaucoma\r\nAxenfeld-Rieger anomaly\r\nmyopia\r\nsensorineural hearing loss\r\ncongenital hypothyroidism\r\narterial tortuosity\r\nmicrocephaly\r\ndelayed eruption of permanent teeth\r\nfemoral retroversion" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108935" "00108467" "1" "01239" "01239" "2017-07-24 23:44:33" "00006" "2017-07-29 21:50:15" "PCR;SEQ" "DNA" "" "WES" "0000291898" "00290730" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291899" "00290731" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291900" "00290732" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291901" "00290733" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305492" "00304363" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305493" "00304364" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305494" "00304365" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000108935" "ADAMTSL1" ## 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 = 35 "{{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}}" "0000177869" "21" "90" "12" "49689087" "49689087" "subst" "3.4305E-5" "00006" "PRPH_000001" "g.49689087C>G" "" "{PMID:Hendee 2017:28722276}, {DOI:Hendee 2017:10.1002/humu.23299}" "" "" "variant not associated with phenotype" "Germline" "yes" "" "0" "" "" "g.49295304C>G" "" "pathogenic" "" "0000247076" "0" "10" "12" "49691250" "49691250" "subst" "0.191297" "02330" "PRPH_000012" "g.49691250A>G" "" "" "" "PRPH(NM_006262.3):c.1107A>G (p.K369=), PRPH(NM_006262.4):c.1107A>G (p.K369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49297467A>G" "" "benign" "" "0000249886" "0" "10" "12" "49691250" "49691250" "subst" "0.191297" "02329" "PRPH_000012" "g.49691250A>G" "" "" "" "PRPH(NM_006262.3):c.1107A>G (p.K369=), PRPH(NM_006262.4):c.1107A>G (p.K369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49297467A>G" "" "benign" "" "0000253110" "0" "10" "12" "49691250" "49691250" "subst" "0.191297" "01943" "PRPH_000012" "g.49691250A>G" "" "" "" "PRPH(NM_006262.3):c.1107A>G (p.K369=), PRPH(NM_006262.4):c.1107A>G (p.K369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49297467A>G" "" "benign" "" "0000294505" "0" "10" "12" "49689955" "49689955" "subst" "7.00817E-5" "02330" "PRPH_000007" "g.49689955C>T" "" "" "" "PRPH(NM_006262.4):c.546-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49296172C>T" "" "benign" "" "0000294506" "0" "30" "12" "49691072" "49691072" "subst" "4.07113E-6" "02330" "PRPH_000011" "g.49691072C>T" "" "" "" "PRPH(NM_006262.4):c.996+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49297289C>T" "" "likely benign" "" "0000294507" "0" "30" "12" "49691057" "49691057" "subst" "0.00488832" "02330" "PRPH_000010" "g.49691057G>A" "" "" "" "PRPH(NM_006262.3):c.996+1G>A, PRPH(NM_006262.4):c.996+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49297274G>A" "" "likely benign" "" "0000299127" "0" "30" "12" "49689265" "49689265" "subst" "0.00014561" "02329" "PRPH_000005" "g.49689265C>T" "" "" "" "PRPH(NM_006262.4):c.282C>T (p.R94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49295482C>T" "" "likely benign" "" "0000299128" "0" "30" "12" "49689489" "49689489" "subst" "0" "02329" "PRPH_000006" "g.49689489G>T" "" "" "" "PRPH(NM_006262.4):c.506G>T (p.R169L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49295706G>T" "" "likely benign" "" "0000299129" "0" "30" "12" "49689036" "49689036" "subst" "0" "02329" "PRPH_000003" "g.49689036G>A" "" "" "" "PRPH(NM_006262.4):c.53G>A (p.R18H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49295253G>A" "" "likely benign" "" "0000299130" "0" "30" "12" "49691057" "49691057" "subst" "0.00488832" "02329" "PRPH_000010" "g.49691057G>A" "" "" "" "PRPH(NM_006262.3):c.996+1G>A, PRPH(NM_006262.4):c.996+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49297274G>A" "" "likely benign" "" "0000301235" "0" "30" "12" "49689009" "49689009" "subst" "0.0146936" "02326" "PRPH_000002" "g.49689009G>A" "" "" "" "PRPH(NM_006262.3):c.26G>A (p.R9Q), PRPH(NM_006262.4):c.26G>A (p.R9Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49295226G>A" "" "likely benign" "" "0000306482" "0" "50" "12" "49689231" "49689231" "subst" "2.20712E-5" "01943" "PRPH_000004" "g.49689231C>T" "" "" "" "PRPH(NM_006262.3):c.248C>T (p.A83V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49295448C>T" "" "VUS" "" "0000306483" "0" "10" "12" "49689009" "49689009" "subst" "0.0146936" "01943" "PRPH_000002" "g.49689009G>A" "" "" "" "PRPH(NM_006262.3):c.26G>A (p.R9Q), PRPH(NM_006262.4):c.26G>A (p.R9Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49295226G>A" "" "benign" "" "0000306484" "0" "50" "12" "49689975" "49689975" "subst" "6.56561E-5" "01943" "PRPH_000008" "g.49689975C>T" "" "" "" "PRPH(NM_006262.3):c.560C>T (p.T187M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49296192C>T" "" "VUS" "" "0000306485" "0" "30" "12" "49690653" "49690653" "subst" "0.000265616" "01943" "PRPH_000009" "g.49690653T>G" "" "" "" "PRPH(NM_006262.3):c.703-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49296870T>G" "" "likely benign" "" "0000322838" "0" "50" "12" "49718029" "49718029" "subst" "0" "01804" "PRPH_000013" "g.49718029C>G" "" "" "" "TROAP(NM_001100620.1):c.429C>G (p.(Tyr143Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49324246C>G" "" "VUS" "" "0000322839" "0" "50" "12" "49722763" "49722763" "subst" "0.00025988" "01804" "C1QL4_000001" "g.49722763G>T" "" "" "" "TROAP(NM_001100620.1):c.*4728G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49328980G>T" "" "VUS" "" "0000322840" "0" "50" "12" "49722764" "49722764" "subst" "0.000259809" "01804" "C1QL4_000002" "g.49722764C>T" "" "" "" "TROAP(NM_001100620.1):c.*4729C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49328981C>T" "" "VUS" "" "0000648587" "1" "50" "12" "49689009" "49689009" "subst" "0.0146936" "03575" "PRPH_000002" "g.49689009G>A" "145/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 145 heterozygous; {DB:CLININrs57451017}" "Germline" "" "rs57451017" "0" "" "" "g.49295226G>A" "" "VUS" "" "0000648588" "1" "50" "12" "49689046" "49689046" "subst" "0.0228057" "03575" "PRPH_000015" "g.49689046C>T" "119/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 119 heterozygous; {DB:CLININrs58403142}" "Germline" "" "rs58403142" "0" "" "" "g.49295263C>T" "" "VUS" "" "0000648589" "1" "50" "12" "49690798" "49690798" "subst" "0.0226" "03575" "PRPH_000016" "g.49690798G>A" "121/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 121 heterozygous; {DB:CLININrs62636520}" "Germline" "" "rs62636520" "0" "" "" "g.49297015G>A" "" "VUS" "" "0000648590" "1" "50" "12" "49691057" "49691057" "subst" "0.00488832" "03575" "PRPH_000010" "g.49691057G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs73112142}" "Germline" "" "rs73112142" "0" "" "" "g.49297274G>A" "" "VUS" "" "0000657118" "0" "30" "12" "49722816" "49722816" "subst" "0.000475761" "01943" "C1QL4_000005" "g.49722816C>T" "" "" "" "TROAP(NM_005480.4):c.998C>T (p.P333L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49329033C>T" "" "likely benign" "" "0000669180" "3" "50" "12" "49689009" "49689009" "subst" "0.0146936" "03575" "PRPH_000002" "g.49689009G>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 4 homozygous; {DB:CLININrs57451017}" "Germline" "" "rs57451017" "0" "" "" "g.49295226G>A" "" "VUS" "" "0000669181" "3" "50" "12" "49689046" "49689046" "subst" "0.0228057" "03575" "PRPH_000015" "g.49689046C>T" "4/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 4 homozygous; {DB:CLININrs58403142}" "Germline" "" "rs58403142" "0" "" "" "g.49295263C>T" "" "VUS" "" "0000669182" "3" "50" "12" "49690798" "49690798" "subst" "0.0226" "03575" "PRPH_000016" "g.49690798G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 4 homozygous; {DB:CLININrs62636520}" "Germline" "" "rs62636520" "0" "" "" "g.49297015G>A" "" "VUS" "" "0000724095" "0" "50" "12" "49691236" "49691236" "subst" "0" "02329" "PRPH_000014" "g.49691236C>G" "" "" "" "PRPH(NM_006262.4):c.1093C>G (p.L365V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966947" "0" "50" "12" "49691150" "49691150" "subst" "0" "02326" "PRPH_000017" "g.49691150T>C" "" "" "" "PRPH(NM_006262.4):c.1007T>C (p.L336P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966948" "0" "50" "12" "49691252" "49691253" "del" "0" "02329" "PRPH_000018" "g.49691252_49691253del" "" "" "" "PRPH(NM_006262.4):c.1109_1110delAG (p.E370Gfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000160" "0" "50" "12" "49717507" "49717507" "subst" "6.09251E-5" "01804" "PRPH_000019" "g.49717507C>A" "" "" "" "TROAP(NM_005480.3):c.116C>A (p.(Ala39Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000161" "0" "30" "12" "49719436" "49719436" "subst" "0" "01804" "PRPH_000020" "g.49719436G>T" "" "" "" "TROAP(NM_005480.3):c.490G>T (p.(Val164Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000162" "0" "30" "12" "49720483" "49720483" "subst" "0.000130462" "01804" "PRPH_000021" "g.49720483T>C" "" "" "" "TROAP(NM_005480.3):c.749T>C (p.(Leu250Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026193" "0" "50" "12" "49691057" "49691057" "subst" "0.00488832" "01943" "PRPH_000010" "g.49691057G>A" "" "" "" "PRPH(NM_006262.3):c.996+1G>A, PRPH(NM_006262.4):c.996+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039301" "0" "50" "12" "49689404" "49689404" "subst" "0.00318406" "01804" "PRPH_000022" "g.49689404G>T" "" "" "" "PRPH(NM_006262.4):c.421G>T (p.(Asp141Tyr))" "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 PRPH ## Count = 35 "{{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}}" "0000177869" "00016908" "90" "104" "0" "104" "0" "c.104C>G" "r.(?)" "p.(Ser35Trp)" "1" "0000247076" "00016908" "10" "1107" "0" "1107" "0" "c.1107A>G" "r.(?)" "p.(Lys369=)" "" "0000249886" "00016908" "10" "1107" "0" "1107" "0" "c.1107A>G" "r.(?)" "p.(Lys369=)" "" "0000253110" "00016908" "10" "1107" "0" "1107" "0" "c.1107A>G" "r.(?)" "p.(Lys369=)" "" "0000294505" "00016908" "10" "546" "-6" "546" "-6" "c.546-6C>T" "r.(=)" "p.(=)" "" "0000294506" "00016908" "30" "996" "16" "996" "16" "c.996+16C>T" "r.(=)" "p.(=)" "" "0000294507" "00016908" "30" "996" "1" "996" "1" "c.996+1G>A" "r.spl?" "p.?" "" "0000299127" "00016908" "30" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(Arg94=)" "" "0000299128" "00016908" "30" "506" "0" "506" "0" "c.506G>T" "r.(?)" "p.(Arg169Leu)" "" "0000299129" "00016908" "30" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18His)" "" "0000299130" "00016908" "30" "996" "1" "996" "1" "c.996+1G>A" "r.spl?" "p.?" "" "0000301235" "00016908" "30" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Arg9Gln)" "" "0000306482" "00016908" "50" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Ala83Val)" "" "0000306483" "00016908" "10" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Arg9Gln)" "" "0000306484" "00016908" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Thr187Met)" "" "0000306485" "00016908" "30" "703" "-19" "703" "-19" "c.703-19T>G" "r.(=)" "p.(=)" "" "0000322838" "00016908" "50" "27306" "0" "27306" "0" "c.*25893C>G" "r.(=)" "p.(=)" "" "0000322839" "00016908" "50" "32040" "0" "32040" "0" "c.*30627G>T" "r.(=)" "p.(=)" "" "0000322840" "00016908" "50" "32041" "0" "32041" "0" "c.*30628C>T" "r.(=)" "p.(=)" "" "0000648587" "00016908" "50" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Arg9Gln)" "" "0000648588" "00016908" "50" "63" "0" "63" "0" "c.63C>T" "r.(=)" "p.(=)" "" "0000648589" "00016908" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Ala277Thr)" "" "0000648590" "00016908" "50" "996" "1" "996" "1" "c.996+1G>A" "r.spl?" "p.?" "" "0000657118" "00016908" "30" "32093" "0" "32093" "0" "c.*30680C>T" "r.(=)" "p.(=)" "" "0000669180" "00016908" "50" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Arg9Gln)" "" "0000669181" "00016908" "50" "63" "0" "63" "0" "c.63C>T" "r.(=)" "p.(=)" "" "0000669182" "00016908" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Ala277Thr)" "" "0000724095" "00016908" "50" "1093" "0" "1093" "0" "c.1093C>G" "r.(?)" "p.(Leu365Val)" "" "0000966947" "00016908" "50" "1007" "0" "1007" "0" "c.1007T>C" "r.(?)" "p.(Leu336Pro)" "" "0000966948" "00016908" "50" "1109" "0" "1110" "0" "c.1109_1110del" "r.(?)" "p.(Glu370Glyfs*55)" "" "0001000160" "00016908" "50" "26784" "0" "26784" "0" "c.*25371C>A" "r.(=)" "p.(=)" "" "0001000161" "00016908" "30" "28713" "0" "28713" "0" "c.*27300G>T" "r.(=)" "p.(=)" "" "0001000162" "00016908" "30" "29760" "0" "29760" "0" "c.*28347T>C" "r.(=)" "p.(=)" "" "0001026193" "00016908" "50" "996" "1" "996" "1" "c.996+1G>A" "r.spl?" "p.?" "" "0001039301" "00016908" "50" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Asp141Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000108935" "0000177869" "0000291898" "0000648587" "0000291899" "0000648588" "0000291900" "0000648589" "0000291901" "0000648590" "0000305492" "0000669180" "0000305493" "0000669181" "0000305494" "0000669182"