### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PHKB) # 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}}" "PHKB" "phosphorylase kinase, beta" "16" "q12-q13" "unknown" "NG_016598.1" "UD_132085446058" "" "http://www.LOVD.nl/PHKB" "" "1" "8927" "5257" "172490" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/PHKB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-03-05 15:47:37" "00000" "2025-11-01 13:22:20" ## 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}}" "00016100" "PHKB" "transcript variant 1" "002" "NM_000293.2" "" "NP_000284.1" "" "" "" "-52" "5439" "3282" "47495210" "47735434" "" "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" "02014" "GSD9B" "storage disease, glycogen, type IXb (GSD-9B)" "AR" "261750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PHKB" "02014" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00033808" "" "" "" "1" "" "00402" "" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00033816" "" "" "" "1" "" "00402" "" "" "M" "" "Australia" "" "0" "" "" "" "" "00033817" "" "" "" "1" "" "00402" "" "" "F" "" "Australia" "" "0" "" "" "" "" "00033818" "" "" "" "1" "" "00402" "" "" "F" "" "Australia" "" "0" "" "" "" "" "00039399" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "F" "yes" "" "" "0" "" "" "" "" "00174819" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}" "" "F" "" "Poland" "" "0" "" "" "" "Pat205" "00291466" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291467" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291468" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291469" "" "" "" "102" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291470" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291471" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00329065" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "F" "" "France" "" "0" "" "" "" "Pat41" "00329066" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat42" "00329067" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat43" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00033808" "04216" "00033816" "02014" "00033817" "04216" "00033818" "02014" "00039399" "00139" "00039399" "04282" "00174819" "05126" "00291466" "00198" "00291467" "00198" "00291468" "00198" "00291469" "00198" "00291470" "00198" "00291471" "00198" "00329065" "04216" "00329066" "04216" "00329067" "04216" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02014, 04216, 04282, 05126 ## Count = 9 "{{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}}" "0000027208" "04216" "00033808" "00402" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027218" "02014" "00033816" "00402" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027219" "04216" "00033817" "00402" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027220" "02014" "00033818" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078835" "04282" "00039399" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000139646" "05126" "00174819" "00006" "Isolated (sporadic)" "41y" "onset overt symptoms adulthood; CPK raised 4x; asymmetric limb-girdle weakness; transient respiratory failure after general anesthesia; generalized muscle atrophy, calf atrophy; no clear dystrophic features in biopsy; ambulation preserved" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000247262" "04216" "00329065" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247263" "04216" "00329066" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247264" "04216" "00329067" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033881" "00033808" "1" "00402" "00006" "2012-01-21 13:19:50" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000033882" "00033816" "1" "00402" "00006" "2012-01-21 13:19:50" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000033883" "00033817" "1" "00402" "00006" "2012-01-21 13:19:50" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000033884" "00033818" "1" "00402" "00006" "2012-01-21 13:19:50" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000039640" "00039399" "1" "01158" "01158" "2015-06-15 14:32:40" "" "" "SEQ-NG" "DNA" "" "" "0000175710" "00174819" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000292634" "00291466" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292635" "00291467" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292636" "00291468" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292637" "00291469" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292638" "00291470" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292639" "00291471" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000330282" "00329065" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330283" "00329066" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330284" "00329067" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000033881" "PHKB" "0000033882" "PHKB" "0000033883" "PHKB" "0000033884" "PHKB" "0000330282" "PHKB" "0000330283" "PHKB" "0000330284" "PHKB" ## 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 = 47 "{{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}}" "0000060725" "1" "50" "16" "47703180" "47703180" "subst" "4.0658E-6" "00402" "PHKB_000001" "g.47703180C>G" "" "" "" "" "patient heterozygous for PYGM variant of unknown significance" "Germline" "" "" "0" "" "" "g.47669269C>G" "" "VUS" "" "0000060726" "10" "90" "16" "47684830" "47684830" "subst" "0.000105694" "00402" "PHKB_000002" "g.47684830C>T" "" "" "" "" "" "Germline" "" "rs34667348" "0" "" "" "g.47650919C>T" "" "pathogenic" "" "0000060727" "20" "90" "16" "47684830" "47684830" "subst" "0.000105694" "00402" "PHKB_000002" "g.47684830C>T" "" "" "" "" "" "Germline" "" "rs34667348" "0" "" "" "g.47650919C>T" "" "pathogenic" "" "0000060728" "21" "90" "16" "47630336" "47630336" "subst" "6.09355E-5" "00402" "PHKB_000003" "g.47630336T>A" "" "" "" "" "" "Germline" "" "rs121918021" "0" "" "" "g.47596425T>A" "" "pathogenic" "" "0000060729" "10" "70" "16" "47727390" "47727390" "subst" "0" "00402" "PHKB_000004" "g.47727390T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47693479T>A" "" "likely pathogenic" "" "0000060730" "20" "70" "16" "47727390" "47727390" "subst" "0" "00402" "PHKB_000004" "g.47727390T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47693479T>A" "" "likely pathogenic" "" "0000067250" "3" "30" "16" "47536996" "47536996" "subst" "0.00182712" "01158" "PHKB_000005" "g.47536996G>A" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "Germline" "" "" "0" "" "" "g.47503085G>A" "" "likely benign" "" "0000251996" "0" "30" "16" "47697618" "47697618" "subst" "0.0398628" "02326" "PHKB_000008" "g.47697618A>G" "" "" "" "PHKB(NM_000293.3):c.2309A>G (p.(Tyr770Cys)), PHKB(NM_001031835.3):c.2288A>G (p.Y763C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47663707A>G" "" "likely benign" "" "0000296944" "0" "10" "16" "47549473" "47549473" "subst" "0.0111836" "02325" "PHKB_000007" "g.47549473G>T" "" "" "" "PHKB(NM_001031835.3):c.534G>T (p.M178I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47515562G>T" "" "benign" "" "0000305552" "0" "10" "16" "47495300" "47495300" "subst" "0.00231067" "01943" "PHKB_000006" "g.47495300G>A" "" "" "" "PHKB(NM_000293.2):c.39G>A (p.W13*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47461389G>A" "" "benign" "" "0000398569" "1" "50" "16" "47684830" "47684830" "subst" "0.00277243" "00006" "PHKB_000009" "g.47684830C>A" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2" "Germline" "" "" "0" "" "" "g.47650919C>A" "" "VUS" "ACMG" "0000398570" "2" "50" "16" "47694729" "47694729" "subst" "0.000358812" "00006" "PHKB_000010" "g.47694729A>G" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2" "Germline" "" "" "0" "" "" "g.47660818A>G" "" "VUS" "ACMG" "0000558265" "0" "10" "16" "47545670" "47545670" "subst" "0.00463542" "01943" "PHKB_000011" "g.47545670A>G" "" "" "" "PHKB(NM_001031835.2):c.479A>G (p.Y160C), PHKB(NM_001031835.3):c.479A>G (p.Y160C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47511759A>G" "" "benign" "" "0000558267" "0" "10" "16" "47621573" "47621573" "subst" "0.0514803" "02327" "PHKB_000012" "g.47621573G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47587662G>C" "" "benign" "" "0000558268" "0" "50" "16" "47621585" "47621585" "subst" "0.000239888" "02325" "PHKB_000013" "g.47621585T>G" "" "" "" "PHKB(NM_001031835.3):c.760T>G (p.S254A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47587674T>G" "" "VUS" "" "0000558271" "0" "30" "16" "47684830" "47684830" "subst" "0.00277243" "02325" "PHKB_000009" "g.47684830C>A" "" "" "" "PHKB(NM_000293.3):c.1969C>A (p.(Gln657Lys)), PHKB(NM_001031835.3):c.1948C>A (p.Q650K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47650919C>A" "" "likely benign" "" "0000558272" "0" "90" "16" "47684830" "47684830" "subst" "0.000105694" "01943" "PHKB_000002" "g.47684830C>T" "" "" "" "PHKB(NM_001031835.2):c.1948C>T (p.Q650*), PHKB(NM_001031835.3):c.1948C>T (p.Q650*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47650919C>T" "" "pathogenic" "" "0000558273" "0" "50" "16" "47697618" "47697618" "subst" "0.0398628" "02327" "PHKB_000008" "g.47697618A>G" "" "" "" "PHKB(NM_000293.3):c.2309A>G (p.(Tyr770Cys)), PHKB(NM_001031835.3):c.2288A>G (p.Y763C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47663707A>G" "" "VUS" "" "0000558275" "0" "50" "16" "47733261" "47733261" "subst" "2.03056E-5" "01943" "PHKB_000016" "g.47733261C>G" "" "" "" "PHKB(NM_001031835.2):c.3245C>G (p.P1082R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47699350C>G" "" "VUS" "" "0000649323" "1" "50" "16" "47536996" "47536996" "subst" "0.00182712" "03575" "PHKB_000005" "g.47536996G>A" "15/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 15 heterozygous, no homozygous; {DB:CLININrs144486825}" "Germline" "" "rs144486825" "0" "" "" "g.47503085G>A" "" "VUS" "" "0000649324" "1" "50" "16" "47545670" "47545670" "subst" "0.00463542" "03575" "PHKB_000011" "g.47545670A>G" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs151155518}" "Germline" "" "rs151155518" "0" "" "" "g.47511759A>G" "" "VUS" "" "0000649325" "1" "30" "16" "47549473" "47549473" "subst" "0.0111836" "03575" "PHKB_000007" "g.47549473G>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs56257827}" "Germline" "" "rs56257827" "0" "" "" "g.47515562G>T" "" "likely benign" "" "0000649326" "1" "30" "16" "47697618" "47697618" "subst" "0.0398628" "03575" "PHKB_000008" "g.47697618A>G" "102/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "102 heterozygous, no homozygous; {DB:CLININrs16945474}" "Germline" "" "rs16945474" "0" "" "" "g.47663707A>G" "" "likely benign" "" "0000649327" "1" "50" "16" "47732476" "47732476" "subst" "0.00585576" "03575" "PHKB_000017" "g.47732476C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs12918964}" "Germline" "" "rs12918964" "0" "" "" "g.47698565C>T" "" "VUS" "" "0000649328" "1" "50" "16" "47733918" "47733918" "subst" "0" "03575" "PHKB_000018" "g.47733918C>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs117861728}" "Germline" "" "rs117861728" "0" "" "" "g.47700007C>A" "" "VUS" "" "0000657852" "0" "30" "16" "47683064" "47683064" "subst" "0.00015029" "01943" "PHKB_000019" "g.47683064A>G" "" "" "" "PHKB(NM_001031835.2):c.1725A>G (p.L575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47649153A>G" "" "likely benign" "" "0000657853" "0" "30" "16" "47699850" "47699850" "del" "0" "01943" "PHKB_000020" "g.47699850del" "" "" "" "PHKB(NM_001031835.2):c.2316-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47665939del" "" "likely benign" "" "0000657854" "0" "90" "16" "47730291" "47730291" "subst" "8.12817E-6" "02326" "PHKB_000021" "g.47730291G>T" "" "" "" "PHKB(NM_001031835.3):c.2875-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47696380G>T" "" "pathogenic" "" "0000680583" "0" "70" "16" "47623015" "47623015" "subst" "0" "01943" "PHKB_000022" "g.47623015T>G" "" "" "" "PHKB(NM_001031835.2):c.1047+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680584" "0" "90" "16" "47684830" "47684830" "subst" "0.000105694" "02325" "PHKB_000002" "g.47684830C>T" "" "" "" "PHKB(NM_001031835.2):c.1948C>T (p.Q650*), PHKB(NM_001031835.3):c.1948C>T (p.Q650*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000692075" "0" "30" "16" "47732440" "47732440" "subst" "3.25558E-5" "01943" "PHKB_000023" "g.47732440A>G" "" "" "" "PHKB(NM_001031835.2):c.3064A>G (p.K1022E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000714813" "3" "90" "16" "47630364" "47630364" "subst" "3.24899E-5" "00000" "PHKB_000026" "g.47630364C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "R429X" "" "Germline" "" "" "0" "" "" "g.47596453C>T" "" "pathogenic (recessive)" "" "0000714814" "1" "90" "16" "47630364" "47630364" "subst" "3.24899E-5" "00000" "PHKB_000026" "g.47630364C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "R429X" "" "Germline" "" "" "0" "" "" "g.47596453C>T" "" "pathogenic (recessive)" "" "0000714815" "1" "90" "16" "47627432" "47627432" "subst" "6.10824E-5" "00000" "PHKB_000025" "g.47627432G>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "p.R364X" "" "Germline" "" "" "0" "" "" "g.47593521G>T" "" "pathogenic (recessive)" "" "0000714863" "2" "90" "16" "47549491" "47549495" "del" "0" "00000" "PHKB_000024" "g.47549491_47549495del" "" "{PMID:Davit-Spraul 2011:21646031}" "" "573_577delGATTA" "" "Germline" "" "" "0" "" "" "g.47515580_47515584del" "" "pathogenic (recessive)" "" "0000714864" "2" "90" "16" "47698889" "47698889" "subst" "8.13809E-6" "00000" "PHKB_000027" "g.47698889A>G" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.47664978A>G" "" "pathogenic (recessive)" "" "0000725804" "0" "50" "16" "47549436" "47549436" "subst" "0.00178393" "01943" "PHKB_000028" "g.47549436A>G" "" "" "" "PHKB(NM_001031835.2):c.497A>G (p.N166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854523" "0" "50" "16" "47695630" "47695630" "subst" "0" "01943" "PHKB_000030" "g.47695630G>A" "" "" "" "PHKB(NM_001031835.2):c.2176G>A (p.D726N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864817" "0" "30" "16" "47684460" "47684460" "subst" "0.000154516" "01943" "PHKB_000029" "g.47684460G>A" "" "" "" "PHKB(NM_001031835.2):c.1782G>A (p.A594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950669" "0" "30" "16" "47545670" "47545670" "subst" "0.00463542" "02326" "PHKB_000011" "g.47545670A>G" "" "" "" "PHKB(NM_001031835.2):c.479A>G (p.Y160C), PHKB(NM_001031835.3):c.479A>G (p.Y160C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968379" "0" "50" "16" "47581353" "47581353" "subst" "1.21973E-5" "02325" "PHKB_000031" "g.47581353A>G" "" "" "" "PHKB(NM_000293.3):c.604A>G (p.I202V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968380" "0" "90" "16" "47630336" "47630336" "subst" "6.09355E-5" "02327" "PHKB_000003" "g.47630336T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981919" "0" "10" "16" "47697618" "47697618" "subst" "0.0398628" "01804" "PHKB_000008" "g.47697618A>G" "" "" "" "PHKB(NM_000293.3):c.2309A>G (p.(Tyr770Cys)), PHKB(NM_001031835.3):c.2288A>G (p.Y763C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001002375" "0" "50" "16" "47531367" "47531367" "subst" "3.67969E-5" "01804" "PHKB_000032" "g.47531367T>A" "" "" "" "PHKB(NM_000293.2):c.134T>A (p.(Leu45His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002376" "0" "90" "16" "47703155" "47703155" "del" "0" "01804" "PHKB_000033" "g.47703155del" "" "" "" "PHKB(NM_000293.2):c.2457delA (p.(Glu820fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055565" "0" "30" "16" "47644727" "47644727" "subst" "0.000192361" "01804" "PHKB_000034" "g.47644727T>C" "" "" "" "PHKB(NM_000293.3):c.1364-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055566" "0" "30" "16" "47684830" "47684830" "subst" "0.00277243" "01804" "PHKB_000009" "g.47684830C>A" "" "" "" "PHKB(NM_000293.3):c.1969C>A (p.(Gln657Lys)), PHKB(NM_001031835.3):c.1948C>A (p.Q650K)" "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 PHKB ## Count = 47 "{{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}}" "0000060725" "00016100" "50" "2482" "0" "2482" "0" "c.2482C>G" "r.(?)" "p.(Pro828Ala)" "26" "0000060726" "00016100" "90" "1969" "0" "1969" "0" "c.1969C>T" "r.(?)" "p.(Gln657*)" "20" "0000060727" "00016100" "90" "1969" "0" "1969" "0" "c.1969C>T" "r.(?)" "p.(Gln657*)" "20" "0000060728" "00016100" "90" "1257" "0" "1257" "0" "c.1257T>A" "r.(?)" "p.(Tyr419*)" "13" "0000060729" "00016100" "70" "2867" "0" "2867" "0" "c.2867T>A" "r.(?)" "p.(Ile956Asn)" "28" "0000060730" "00016100" "70" "2867" "0" "2867" "0" "c.2867T>A" "r.(?)" "p.(Ile956Asn)" "28" "0000067250" "00016100" "30" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Asp134Asn)" "4" "0000251996" "00016100" "30" "2309" "0" "2309" "0" "c.2309A>G" "r.(?)" "p.(Tyr770Cys)" "" "0000296944" "00016100" "10" "555" "0" "555" "0" "c.555G>T" "r.(?)" "p.(Met185Ile)" "" "0000305552" "00016100" "10" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Trp13Ter)" "" "0000398569" "00016100" "50" "1969" "0" "1969" "0" "c.1969C>A" "r.(?)" "p.(Gln657Lys)" "" "0000398570" "00016100" "50" "2195" "0" "2195" "0" "c.2195A>G" "r.(?)" "p.(Asn732Ser)" "" "0000558265" "00016100" "10" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Tyr167Cys)" "" "0000558267" "00016100" "10" "775" "-6" "775" "-6" "c.775-6G>C" "r.(=)" "p.(=)" "" "0000558268" "00016100" "50" "781" "0" "781" "0" "c.781T>G" "r.(?)" "p.(Ser261Ala)" "" "0000558271" "00016100" "30" "1969" "0" "1969" "0" "c.1969C>A" "r.(?)" "p.(Gln657Lys)" "" "0000558272" "00016100" "90" "1969" "0" "1969" "0" "c.1969C>T" "r.(?)" "p.(Gln657Ter)" "" "0000558273" "00016100" "50" "2309" "0" "2309" "0" "c.2309A>G" "r.(?)" "p.(Tyr770Cys)" "" "0000558275" "00016100" "50" "3266" "0" "3266" "0" "c.3266C>G" "r.(?)" "p.(Pro1089Arg)" "" "0000649323" "00016100" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Asp134Asn)" "" "0000649324" "00016100" "50" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Tyr167Cys)" "" "0000649325" "00016100" "30" "555" "0" "555" "0" "c.555G>T" "r.(?)" "p.(Met185Ile)" "" "0000649326" "00016100" "30" "2309" "0" "2309" "0" "c.2309A>G" "r.(?)" "p.(Tyr770Cys)" "" "0000649327" "00016100" "50" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "" "0000649328" "00016100" "50" "3923" "0" "3923" "0" "c.*641C>A" "r.(=)" "p.(=)" "" "0000657852" "00016100" "30" "1746" "0" "1746" "0" "c.1746A>G" "r.(?)" "p.(Leu582=)" "" "0000657853" "00016100" "30" "2427" "964" "2427" "964" "c.2427+964del" "r.(=)" "p.(=)" "" "0000657854" "00016100" "90" "2896" "-1" "2896" "-1" "c.2896-1G>T" "r.spl?" "p.?" "" "0000680583" "00016100" "70" "1068" "2" "1068" "2" "c.1068+2T>G" "r.spl?" "p.?" "" "0000680584" "00016100" "90" "1969" "0" "1969" "0" "c.1969C>T" "r.(?)" "p.(Gln657Ter)" "" "0000692075" "00016100" "30" "3085" "0" "3085" "0" "c.3085A>G" "r.(?)" "p.(Lys1029Glu)" "" "0000714813" "00016100" "90" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429*)" "" "0000714814" "00016100" "90" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429*)" "" "0000714815" "00016100" "90" "1090" "0" "1090" "0" "c.1090G>T" "r.(?)" "p.(Glu364*)" "" "0000714863" "00016100" "90" "573" "0" "577" "0" "c.573_577del" "r.(?)" "p.(Gln191Hisfs*5)" "" "0000714864" "00016100" "90" "2427" "3" "2427" "3" "c.2427+3A>G" "r.spl?" "p.?" "" "0000725804" "00016100" "50" "518" "0" "518" "0" "c.518A>G" "r.(?)" "p.(Asn173Ser)" "" "0000854523" "00016100" "50" "2197" "0" "2197" "0" "c.2197G>A" "r.(?)" "p.(Asp733Asn)" "" "0000864817" "00016100" "30" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(Ala601=)" "" "0000950669" "00016100" "30" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Tyr167Cys)" "" "0000968379" "00016100" "50" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Ile202Val)" "" "0000968380" "00016100" "90" "1257" "0" "1257" "0" "c.1257T>A" "r.(?)" "p.(Tyr419*)" "" "0000981919" "00016100" "10" "2309" "0" "2309" "0" "c.2309A>G" "r.(?)" "p.(Tyr770Cys)" "" "0001002375" "00016100" "50" "134" "0" "134" "0" "c.134T>A" "r.(?)" "p.(Leu45His)" "" "0001002376" "00016100" "90" "2457" "0" "2457" "0" "c.2457del" "r.(?)" "p.(Glu820Lysfs*11)" "" "0001055565" "00016100" "30" "1364" "-10" "1364" "-10" "c.1364-10T>C" "r.(=)" "p.(=)" "" "0001055566" "00016100" "30" "1969" "0" "1969" "0" "c.1969C>A" "r.(?)" "p.(Gln657Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000033881" "0000060725" "0000033882" "0000060726" "0000033882" "0000060727" "0000033883" "0000060728" "0000033884" "0000060729" "0000033884" "0000060730" "0000039640" "0000067250" "0000175710" "0000398569" "0000175710" "0000398570" "0000292634" "0000649323" "0000292635" "0000649324" "0000292636" "0000649325" "0000292637" "0000649326" "0000292638" "0000649327" "0000292639" "0000649328" "0000330282" "0000714813" "0000330283" "0000714814" "0000330283" "0000714863" "0000330284" "0000714815" "0000330284" "0000714864"