### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PKHD1L1) # 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}}" "PKHD1L1" "polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1" "8" "q23" "unknown" "NC_000008.10" "UD_132609954211" "" "https://www.LOVD.nl/PKHD1L1" "" "1" "20313" "93035" "607843" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PKHD1L1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-26 09:18:45" "00006" "2025-10-15 22:32:14" ## 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}}" "00016242" "PKHD1L1" "polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1" "001" "NM_177531.4" "" "NP_803875.2" "" "" "" "-104" "13913" "12732" "110374706" "110543500" "" "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" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "07193" "DFNB124" "deafness, autosomal recessive, type 124" "AR" "620794" "" "" "" "00006" "2025-10-15 21:52:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PKHD1L1" "05086" "PKHD1L1" "07193" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00050326" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DecUnDi" "00443406" "" "" "" "1" "" "00006" "{PMID:Redfield 2024:38459354}, {PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "United States" "" "0" "" "" "" "Fam1" "00443407" "" "" "" "1" "" "00006" "{PMID:Redfield 2024:38459354}, {PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "United States" "" "0" "" "" "" "Fam2" "00443408" "" "" "" "1" "" "00006" "{PMID:Redfield 2024:38459354}, {PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "2-generation family, 1 affected" "M" "yes" "Korea" "" "0" "" "" "" "Fam3" "00467517" "" "" "" "1" "" "00006" "{PMID:Redfield 2024:38459354}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam4" "00467518" "" "" "" "1" "" "00006" "" "" "" "" "China" "" "0" "" "" "" "patient" "00467519" "" "" "" "1" "" "00006" "{PMID:Redfield 2024:38459354}" "" "" "" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00050326" "00198" "00443406" "05086" "00443407" "05086" "00443408" "05086" "00467517" "05086" "00467518" "05086" "00467519" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05086, 07193 ## Count = 7 "{{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}}" "0000036938" "00198" "00050326" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000332747" "05086" "00443406" "00006" "Familial, autosomal recessive" "<15y" "see paper; ..., slowly progressive mild to moderate bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB124" "hearing loss" "" "0000332748" "05086" "00443407" "00006" "Familial, autosomal recessive" "<10y" "see paper; ..., moderate to severe congenital bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB124" "hearing loss" "" "0000332749" "05086" "00443408" "00006" "Familial, autosomal recessive" "<15y" "see paper; ..., severe congenital bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB124" "hearing loss" "" "0000352725" "05086" "00467517" "00006" "Familial, autosomal recessive" "" "see paper; ..., hearing loss, bilateral moderate sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB124" "sensorineural hearing loss" "" "0000352726" "05086" "00467518" "00006" "Unknown" "" "see paper; ..., congenital bilateral severe sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "sensorineural hearing loss" "" "0000352727" "05086" "00467519" "00006" "Unknown" "" "see paper; ..., congenital bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "sensorineural hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050271" "00050326" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000444895" "00443406" "1" "00006" "00006" "2023-11-26 09:32:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444896" "00443407" "1" "00006" "00006" "2023-11-26 09:32:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444897" "00443408" "1" "00006" "00006" "2023-11-26 09:32:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469180" "00467517" "1" "00006" "00006" "2025-10-15 22:14:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469181" "00467518" "1" "00006" "00006" "2025-10-15 22:20:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469182" "00467519" "1" "00006" "00006" "2025-10-15 22:23:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000050271" "PKHD1L1" ## 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 = 39 "{{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}}" "0000079223" "3" "90" "8" "110464510" "110464510" "subst" "0.00765174" "00006" "PKHD1L1_000001" "g.110464510G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.109452281G>A" "" "pathogenic" "" "0000332276" "0" "50" "8" "110457292" "110457292" "subst" "0.000365672" "01804" "PKHD1L1_000002" "g.110457292C>T" "" "" "" "PKHD1L1(NM_177531.4):c.5194C>T (p.(Pro1732Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109445063C>T" "" "VUS" "" "0000332277" "0" "50" "8" "110474060" "110474060" "subst" "2.53756E-5" "01804" "PKHD1L1_000003" "g.110474060C>A" "" "" "" "PKHD1L1(NM_177531.4):c.7306C>A (p.(Gln2436Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109461831C>A" "" "VUS" "" "0000332278" "0" "50" "8" "110478822" "110478822" "subst" "0.000641574" "01804" "PKHD1L1_000004" "g.110478822C>A" "" "" "" "PKHD1L1(NM_177531.4):c.8429C>A (p.(Thr2810Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109466593C>A" "" "VUS" "" "0000332280" "0" "30" "8" "110505963" "110505963" "subst" "0.0188675" "01804" "PKHD1L1_000006" "g.110505963A>G" "" "" "" "PKHD1L1(NM_177531.4):c.10310A>G (p.(Asp3437Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109493734A>G" "" "likely benign" "" "0000332281" "0" "50" "8" "110516556" "110516556" "subst" "0" "01804" "PKHD1L1_000007" "g.110516556G>T" "" "" "" "PKHD1L1(NM_177531.4):c.10829G>T (p.(Gly3610Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109504327G>T" "" "VUS" "" "0000690137" "0" "50" "8" "110424563" "110424563" "subst" "0.000101599" "01943" "PKHD1L1_000013" "g.110424563C>A" "" "" "" "PKHD1L1(NM_177531.6):c.2155C>A (p.P719T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803403" "0" "30" "8" "110425735" "110425735" "subst" "1.02838E-5" "01943" "PKHD1L1_000014" "g.110425735C>A" "" "" "" "PKHD1L1(NM_177531.6):c.2321C>A (p.T774N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861018" "0" "30" "8" "110450575" "110450575" "subst" "0" "01943" "PKHD1L1_000015" "g.110450575T>C" "" "" "" "PKHD1L1(NM_177531.6):c.3650T>C (p.I1217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861019" "0" "30" "8" "110474092" "110474092" "subst" "1.29386E-5" "01943" "PKHD1L1_000016" "g.110474092T>C" "" "" "" "PKHD1L1(NM_177531.6):c.7338T>C (p.P2446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000944619" "0" "70" "8" "110418707" "110418707" "subst" "5.475E-5" "03779" "PKHD1L1_000017" "g.110418707G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs767753360" "0" "" "" "" "" "likely pathogenic" "" "0000946824" "21" "70" "8" "110394768" "110394768" "subst" "0" "00006" "PKHD1L1_000019" "g.110394768G>A" "" "{PMID:Redfield 2024:38459354}, {PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "" "" "" "Germline" "" "" "0" "" "" "g.109382539G>A" "" "likely pathogenic (recessive)" "" "0000946825" "3" "70" "8" "110504128" "110504128" "subst" "4.5169E-5" "00006" "PKHD1L1_000020" "g.110504128C>T" "" "{PMID:Redfield 2024:38459354}, {PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "" "" "" "Germline" "" "" "0" "" "" "g.109491899C>T" "" "likely pathogenic (recessive)" "" "0000946826" "3" "70" "8" "110476498" "110476498" "subst" "0.000232733" "00006" "PKHD1L1_000021" "g.110476498C>A" "" "{PMID:Redfield 2024:38459354}, {PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "" "" "" "Germline" "" "" "0" "" "" "g.109464269C>A" "" "likely pathogenic (recessive)" "" "0000946827" "11" "70" "8" "110451306" "110451306" "subst" "0.000277687" "00006" "PKHD1L1_000018" "g.110451306G>T" "" "{PMID:Redfield 2024:38459354}, {PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "" "" "" "Germline" "" "" "0" "" "" "g.109439077G>T" "" "likely pathogenic (recessive)" "" "0000977992" "0" "30" "8" "110477066" "110477066" "subst" "0.0013229" "01804" "PKHD1L1_000024" "g.110477066C>T" "" "" "" "PKHD1L1(NM_177531.6):c.8005C>T (p.(Gln2669*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977993" "0" "50" "8" "110492246" "110492246" "dup" "0" "01804" "PKHD1L1_000025" "g.110492246dup" "" "" "" "PKHD1L1(NM_177531.6):c.9205dup (p.(Met3069Asnfs*18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996868" "0" "30" "8" "110393632" "110393632" "subst" "0" "01804" "PKHD1L1_000026" "g.110393632T>A" "" "" "" "PKHD1L1(NM_177531.4):c.197T>A (p.(Val66Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996869" "0" "30" "8" "110418573" "110418573" "subst" "0.000490671" "01804" "PKHD1L1_000027" "g.110418573C>T" "" "" "" "PKHD1L1(NM_177531.4):c.1679C>T (p.(Pro560Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996870" "0" "30" "8" "110424545" "110424545" "subst" "4.06342E-6" "01804" "PKHD1L1_000028" "g.110424545C>T" "" "" "" "PKHD1L1(NM_177531.4):c.2137C>T (p.(Arg713Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996871" "0" "50" "8" "110424563" "110424563" "subst" "0.00105663" "01804" "PKHD1L1_000029" "g.110424563C>T" "" "" "" "PKHD1L1(NM_177531.4):c.2155C>T (p.(Pro719Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996872" "0" "50" "8" "110425668" "110425668" "subst" "0" "01804" "PKHD1L1_000030" "g.110425668G>T" "" "" "" "PKHD1L1(NM_177531.4):c.2254G>T (p.(Gly752*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996873" "0" "50" "8" "110432891" "110432891" "subst" "0" "01804" "PKHD1L1_000031" "g.110432891T>C" "" "" "" "PKHD1L1(NM_177531.4):c.2669T>C (p.(Ile890Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996874" "0" "50" "8" "110441669" "110441669" "subst" "0" "01804" "PKHD1L1_000032" "g.110441669G>A" "" "" "" "PKHD1L1(NM_177531.4):c.3101G>A (p.(Arg1034His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996875" "0" "30" "8" "110456019" "110456019" "subst" "4.0626E-6" "01804" "PKHD1L1_000033" "g.110456019T>G" "" "" "" "PKHD1L1(NM_177531.4):c.4679T>G (p.(Val1560Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996876" "0" "50" "8" "110457154" "110457154" "subst" "0.00058122" "01804" "PKHD1L1_000034" "g.110457154G>A" "" "" "" "PKHD1L1(NM_177531.4):c.5056G>A (p.(Val1686Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996877" "0" "30" "8" "110464408" "110464408" "subst" "0.000493197" "01804" "PKHD1L1_000035" "g.110464408T>G" "" "" "" "PKHD1L1(NM_177531.4):c.6406T>G (p.(Tyr2136Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996878" "0" "50" "8" "110476705" "110476705" "subst" "0" "01804" "PKHD1L1_000036" "g.110476705A>C" "" "" "" "PKHD1L1(NM_177531.4):c.7644A>C (p.(Gln2548His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996879" "0" "50" "8" "110492322" "110492322" "subst" "0" "01804" "PKHD1L1_000037" "g.110492322C>T" "" "" "" "PKHD1L1(NM_177531.4):c.9281C>T (p.(Ser3094Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036694" "0" "50" "8" "110451125" "110451125" "subst" "0.000500464" "01804" "PKHD1L1_000038" "g.110451125G>A" "" "" "" "PKHD1L1(NM_177531.6):c.3761-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036695" "0" "30" "8" "110492328" "110492328" "subst" "0.00152984" "01804" "PKHD1L1_000039" "g.110492328A>C" "" "" "" "PKHD1L1(NM_177531.6):c.9287A>C (p.(Tyr3096Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036696" "0" "50" "8" "110492337" "110492337" "subst" "0" "01804" "PKHD1L1_000040" "g.110492337T>C" "" "" "" "PKHD1L1(NM_177531.6):c.9296T>C (p.(Val3099Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036697" "0" "50" "8" "110510763" "110510763" "subst" "4.06154E-6" "01804" "PKHD1L1_000041" "g.110510763G>T" "" "" "" "PKHD1L1(NM_177531.6):c.10672G>T (p.(Glu3558*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036698" "0" "50" "8" "110510782" "110510782" "subst" "0.000633652" "01804" "PKHD1L1_000042" "g.110510782G>C" "" "" "" "PKHD1L1(NM_177531.6):c.10691G>C (p.(Arg3564Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036699" "0" "30" "8" "110539175" "110539175" "subst" "0.00164333" "01804" "PKHD1L1_000043" "g.110539175T>A" "" "" "" "PKHD1L1(NM_177531.6):c.12647T>A (p.(Ile4216Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049372" "11" "90" "8" "110418707" "110418707" "subst" "5.475E-5" "00006" "PKHD1L1_000017" "g.110418707G>A" "" "{PMID:Redfield 2024:38459354}" "" "" "effect on RNA predicted from minigene splicing assay" "Germline" "" "" "0" "" "" "g.109406478G>A" "" "likely pathogenic (recessive)" "" "0001049373" "21" "90" "8" "110478845" "110478861" "del" "0" "00006" "PKHD1L1_000044" "g.110478845_110478861del" "" "{PMID:Redfield 2024:38459354}" "" "" "" "Germline" "" "" "0" "" "" "g.109466616_109466632del" "" "likely pathogenic (recessive)" "" "0001049374" "1" "90" "8" "110418707" "110418707" "subst" "5.475E-5" "00006" "PKHD1L1_000017" "g.110418707G>A" "" "{PMID:Redfield 2024:38459354}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.109406478G>A" "" "likely pathogenic (recessive)" "" "0001049375" "1" "90" "8" "110478845" "110478861" "del" "0" "00006" "PKHD1L1_000044" "g.110478845_110478861del" "" "{PMID:Redfield 2024:38459354}" "" "" "" "Germline" "" "" "0" "" "" "g.109466616_109466632del" "" "likely pathogenic (recessive)" "" ## 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 PKHD1L1 ## Count = 39 "{{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}}" "0000079223" "00016242" "00" "6507" "1" "6507" "1" "c.6507+1G>A" "r.spl?" "p.?" "" "0000332276" "00016242" "50" "5194" "0" "5194" "0" "c.5194C>T" "r.(?)" "p.(Pro1732Ser)" "" "0000332277" "00016242" "50" "7306" "0" "7306" "0" "c.7306C>A" "r.(?)" "p.(Gln2436Lys)" "" "0000332278" "00016242" "50" "8429" "0" "8429" "0" "c.8429C>A" "r.(?)" "p.(Thr2810Asn)" "" "0000332280" "00016242" "30" "10310" "0" "10310" "0" "c.10310A>G" "r.(?)" "p.(Asp3437Gly)" "" "0000332281" "00016242" "50" "10829" "0" "10829" "0" "c.10829G>T" "r.(?)" "p.(Gly3610Val)" "" "0000690137" "00016242" "50" "2155" "0" "2155" "0" "c.2155C>A" "r.(?)" "p.(Pro719Thr)" "" "0000803403" "00016242" "30" "2321" "0" "2321" "0" "c.2321C>A" "r.(?)" "p.(Thr774Asn)" "" "0000861018" "00016242" "30" "3650" "0" "3650" "0" "c.3650T>C" "r.(?)" "p.(Ile1217Thr)" "" "0000861019" "00016242" "30" "7338" "0" "7338" "0" "c.7338T>C" "r.(?)" "p.(Pro2446=)" "" "0000944619" "00016242" "70" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Gly605Arg)" "" "0000946824" "00016242" "70" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Ser)" "" "0000946825" "00016242" "70" "10141" "0" "10141" "0" "c.10141C>T" "r.(?)" "p.(Arg3381*)" "" "0000946826" "00016242" "70" "7437" "0" "7437" "0" "c.7437C>A" "r.(?)" "p.(His2479Gln)" "" "0000946827" "00016242" "70" "3941" "0" "3941" "0" "c.3941G>T" "r.(?)" "p.(Gly1314Val)" "" "0000977992" "00016242" "30" "8005" "0" "8005" "0" "c.8005C>T" "r.(?)" "p.(Gln2669*)" "" "0000977993" "00016242" "50" "9205" "0" "9205" "0" "c.9205dup" "r.(?)" "p.(Met3069Asnfs*18)" "" "0000996868" "00016242" "30" "197" "0" "197" "0" "c.197T>A" "r.(?)" "p.(Val66Asp)" "" "0000996869" "00016242" "30" "1679" "0" "1679" "0" "c.1679C>T" "r.(?)" "p.(Pro560Leu)" "" "0000996870" "00016242" "30" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Arg713Cys)" "" "0000996871" "00016242" "50" "2155" "0" "2155" "0" "c.2155C>T" "r.(?)" "p.(Pro719Ser)" "" "0000996872" "00016242" "50" "2254" "0" "2254" "0" "c.2254G>T" "r.(?)" "p.(Gly752*)" "" "0000996873" "00016242" "50" "2669" "0" "2669" "0" "c.2669T>C" "r.(?)" "p.(Ile890Thr)" "" "0000996874" "00016242" "50" "3101" "0" "3101" "0" "c.3101G>A" "r.(?)" "p.(Arg1034His)" "" "0000996875" "00016242" "30" "4679" "0" "4679" "0" "c.4679T>G" "r.(?)" "p.(Val1560Gly)" "" "0000996876" "00016242" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Ile)" "" "0000996877" "00016242" "30" "6406" "0" "6406" "0" "c.6406T>G" "r.(?)" "p.(Tyr2136Asp)" "" "0000996878" "00016242" "50" "7644" "0" "7644" "0" "c.7644A>C" "r.(?)" "p.(Gln2548His)" "" "0000996879" "00016242" "50" "9281" "0" "9281" "0" "c.9281C>T" "r.(?)" "p.(Ser3094Phe)" "" "0001036694" "00016242" "50" "3761" "-1" "3761" "-1" "c.3761-1G>A" "r.spl?" "p.?" "" "0001036695" "00016242" "30" "9287" "0" "9287" "0" "c.9287A>C" "r.(?)" "p.(Tyr3096Ser)" "" "0001036696" "00016242" "50" "9296" "0" "9296" "0" "c.9296T>C" "r.(?)" "p.(Val3099Ala)" "" "0001036697" "00016242" "50" "10672" "0" "10672" "0" "c.10672G>T" "r.(?)" "p.(Glu3558*)" "" "0001036698" "00016242" "50" "10691" "0" "10691" "0" "c.10691G>C" "r.(?)" "p.(Arg3564Pro)" "" "0001036699" "00016242" "30" "12647" "0" "12647" "0" "c.12647T>A" "r.(?)" "p.(Ile4216Asn)" "" "0001049372" "00016242" "90" "1813" "0" "1813" "0" "c.1813G>A" "r.[(1670_1813del,1813G>A)]" "p.([Val557_Arg604del,Gly605Arg)]" "" "0001049373" "00016242" "90" "8452" "0" "8468" "0" "c.8452_8468del" "r.(8452_8468del)" "p.(Leu2818TyrfsTer5)" "" "0001049374" "00016242" "90" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Gly605Arg)" "" "0001049375" "00016242" "90" "8452" "0" "8468" "0" "c.8452_8468del" "r.(?)" "p.(Leu2818Tyrfs*5)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000050271" "0000079223" "0000444895" "0000946824" "0000444895" "0000946827" "0000444896" "0000946825" "0000444897" "0000946826" "0000469180" "0001049372" "0000469180" "0001049373" "0000469181" "0001049374" "0000469182" "0001049375"