### 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" "00006" "2026-03-06 17:26:39" ## 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 = 3 "{{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" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" ## 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 = 9 "{{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" "" "" "" "" "00473365" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam206959Pat639" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00108467" "00198" "00290730" "00198" "00290731" "00198" "00290732" "00198" "00290733" "00198" "00304363" "00198" "00304364" "00198" "00304365" "00198" "00473365" "04255" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00456, 04255 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "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" "" "" "" "" "" "" "" "" "" "" "" "0000358160" "04255" "00473365" "00006" "Unknown" "38y" "Sporadic case, muscle weakness, muscle cramp, onset 5y, gait abnormality, dysarthria, postural imbalance, bulbar dysfunction, left hemiparesis and active motor neuron disease reported in EDX" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{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" "0000475034" "00473365" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 36 "{{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" "" "0001069432" "0" "50" "12" "49690303" "49690303" "subst" "0" "00006" "PRPH_000023" "g.49690303A>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PP3_mod, PM2" "Germline" "" "" "0" "" "" "g.49296520A>G" "SCV006075162" "VUS" "ACMG" ## 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 = 36 "{{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)" "" "0001069432" "00016908" "50" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(His232Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000108935" "0000177869" "0000291898" "0000648587" "0000291899" "0000648588" "0000291900" "0000648589" "0000291901" "0000648590" "0000305492" "0000669180" "0000305493" "0000669181" "0000305494" "0000669182" "0000475034" "0001069432"