### 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" "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}}" "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 = 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" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PKHD1L1" "05086" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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" "" "" "" "" "00443406" "" "" "" "1" "" "00006" "{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 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 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "2-generation family, 1 affected" "M" "yes" "Korea" "" "0" "" "" "" "Fam3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00050326" "00198" "00443406" "05086" "00443407" "05086" "00443408" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05086 ## Count = 4 "{{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" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000332748" "05086" "00443407" "00006" "Familial, autosomal recessive" "<10y" "see paper; ..., moderate to severe congenital bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000332749" "05086" "00443408" "00006" "Familial, autosomal recessive" "<15y" "see paper; ..., severe congenital bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{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" ## 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 = 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}}" "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 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 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 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 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" "" ## 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 = 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}}" "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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050271" "0000079223" "0000444895" "0000946824" "0000444895" "0000946827" "0000444896" "0000946825" "0000444897" "0000946826"