### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POMK) # 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}}" "POMK" "protein-O-mannose kinase" "8" "p11.21" "unknown" "NG_033235.1" "UD_139543899718" "" "https://www.LOVD.nl/POMK" "" "1" "26267" "84197" "615247" "1" "1" "1" "1" "alias SKG196.\r\nThis database is one of the gene variant databases from the:.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/POMK_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00006" "2014-03-21 00:00:00" "00006" "2017-12-11 13:45:10" "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}}" "00023936" "POMK" "transcript variant 1" "001" "NM_032237.4" "" "NP_115613.1" "" "" "" "-267" "1356" "1053" "43093506" "43123180" "00006" "2014-03-21 22:57:39" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00360" "MDC" "dystrophy, muscular, congenital (MDC)" "" "" "" "" "" "00006" "2014-03-21 23:02:36" "00006" "2018-07-03 16:30:02" "00361" "WWS" "Walker-Warburg syndrome (WWS)" "SMo" "" "" "" "" "00006" "2014-03-22 16:35:00" "00006" "2021-12-10 21:51:32" "04291" "MDDGC12" "dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C12 (MDDGC-12)" "AR" "616094" "" "" "" "00006" "2015-06-19 22:41:00" "00006" "2024-01-12 21:01:14" "04292" "MDDGA12" "dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A12 (MDDGA-12)" "AR" "615249" "" "" "" "00006" "2015-06-19 22:43:00" "00006" "2021-12-10 21:51:32" "05117" "MDDG" "dystrophy, muscular, dystroglycanopathy (MDDG)" "" "" "" "" "" "00006" "2016-01-11 01:55:59" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "POMK" "04291" "POMK" "04292" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00016342" "" "" "" "2" "" "00006" "{PMID:von Renesse:24556084}" "2-generation family, 2 affecteds (sister/brother)" "" "yes" "Lebanon" "" "0" "" "" "" "" "00016343" "" "" "" "3" "" "00006" "{PMID:Jae 2013:23519211}" "2-generation family, 1 affected, unaffected carrier parents" "?" "no" "" "" "0" "" "" "" "" "00016346" "" "" "00016343" "1" "" "00006" "{PMID:Jae 2013:23519211}" "2-generation family, unaffected carrier parent" "?" "no" "" "" "0" "" "" "" "" "00016347" "" "" "00016343" "1" "" "00006" "{PMID:Jae 2013:23519211}" "2-generation family, unaffected carrier parent" "?" "no" "" "" "0" "" "" "" "" "00081036" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00144402" "" "" "" "2" "" "02343" "{PMID:Strang-Karlsson 2018:29910097}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "Finland" "" "0" "yes" "no" "white" "" "00144403" "" "" "00144402" "1" "" "02343" "{PMID:Strang-Karlsson 2018:29910097}" "sister to #0000145262" "F" "no" "Finland" "" "0" "" "no" "white" "" "00311113" "" "" "" "1" "" "00006" "{PMID:Johnson 2018:30060766}" "" "M" "" "" "" "0" "" "" "white" "Pat15" "00311114" "" "" "" "1" "" "00006" "{PMID:Johnson 2018:30060766}" "" "F" "" "" "" "0" "" "" "white" "Pat16" "00314396" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314397" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00016342" "00360" "00016343" "00361" "00016346" "00000" "00016347" "00000" "00081036" "04292" "00144402" "00198" "00144403" "00198" "00311113" "05117" "00311114" "05117" "00314396" "05126" "00314397" "05126" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00360, 00361, 04291, 04292, 05117, 05126 ## 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}}" "0000014951" "00360" "00016342" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000014952" "00361" "00016343" "00006" "Isolated (sporadic)" "" "typical WWS" "" "" "" "" "" "" "" "" "" "" "" "0000060605" "04292" "00081036" "01758" "Familial, autosomal recessive" "" "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (OMIM:615249)" "" "" "" "" "" "" "" "" "" "" "" "0000117171" "00198" "00144402" "02343" "Familial, autosomal recessive" "06y" "proximal upper and proximal and distal lower limb weakness. Distal lower limb hypertrophy; mild LGMD phenotype, onset in chidhood" "" "10y" "" "" "" "" "" "" "dystrophy, muscular, limb-girdle (dystroglycanopathy) type C12 (MDDGC-12)" "dystrophy, muscular" "" "0000117172" "00198" "00144403" "02343" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, limb-girdle (dystroglycanopathy) type C12 (MDDGC-12)" "dystrophy, muscular" "" "0000236369" "05117" "00311113" "00006" "Familial, autosomal recessive" "11y" "onset childhood, non-progressive; walks independent; left ventricular enlargement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 2,553-6,800 U/L; muscle biopsy myopathic; minimal high-signal changes in the right shoulder and left pelvic and thigh regions; EMG normal" "" "" "" "α-DG deficiency" "" "" "" "" "" "dystroglycanopathy" "" "0000236370" "05117" "00311114" "00006" "Familial, autosomal recessive" "13y" "onset childhood, non-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal and distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 890-4,687 U/L; muscle biopsy normal; EMG normal" "" "" "" "no indications" "" "" "" "" "" "dystroglycanopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016280" "00016342" "1" "00006" "00006" "2014-03-21 23:09:31" "" "" "arraySNP;SEQ;SEQ-NG-I" "DNA" "" "" "0000016281" "00016343" "1" "00006" "00006" "2014-03-22 16:35:50" "" "" "SEQ" "DNA" "" "" "0000016284" "00016346" "1" "00006" "00006" "2014-03-22 17:21:45" "" "" "SEQ" "DNA" "" "" "0000016285" "00016347" "1" "00006" "00006" "2014-03-22 17:25:33" "" "" "SEQ" "DNA" "" "" "0000081148" "00081036" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000145262" "00144402" "1" "02343" "02343" "2017-12-11 12:47:47" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000145263" "00144403" "1" "02343" "02343" "2017-12-11 13:19:41" "" "" "SEQ" "DNA" "blood" "WES" "0000312265" "00311113" "1" "00006" "00006" "2020-09-18 13:35:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312266" "00311114" "1" "00006" "00006" "2020-09-18 13:35:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315569" "00314396" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315570" "00314397" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000016280" "POMK" "0000016281" "POMK" "0000016284" "POMK" "0000016285" "POMK" "0000081148" "POMK" "0000145263" "FAM41C" "0000312265" "POMK" "0000312266" "POMK" "0000315569" "POMK" "0000315570" "POMK" ## 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 = 32 "{{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}}" "0000036056" "3" "95" "8" "42977292" "42977292" "subst" "0" "00006" "POMK_000003" "g.42977292C>T" "" "{PMID:von Renesse:24556084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43122149C>T" "" "pathogenic" "" "0000036060" "1" "95" "8" "42977377" "42977377" "subst" "0" "00006" "POMK_000001" "g.42977377T>G" "" "{PMID:Jae 2013:23519211}, {OMIM615247:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43122234T>G" "" "pathogenic" "" "0000036061" "2" "95" "8" "42977740" "42977740" "subst" "1.21886E-5" "00006" "POMK_000002" "g.42977740A>G" "" "{PMID:Jae 2013:23519211}, {OMIM615247:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.43122597A>G" "" "pathogenic" "" "0000036062" "0" "95" "8" "42977377" "42977377" "subst" "0" "00006" "POMK_000001" "g.42977377T>G" "" "{PMID:Jae 2013:23519211}, {OMIM615247:0001}" "" "" "expression cloning neither restored alpha-DG glycosylation nor enhanced susceptibility to infection with rVSV-GP-LASV" "In vitro (cloned)" "-" "" "0" "" "" "g.43122234T>G" "" "NA" "" "0000036063" "0" "95" "8" "42977740" "42977740" "subst" "1.21886E-5" "00006" "POMK_000002" "g.42977740A>G" "" "{PMID:Jae 2013:23519211}, {OMIM615247:0002}" "" "" "expression cloning neither restored alpha-DG glycosylation nor enhanced susceptibility to infection with rVSV-GP-LASV" "In vitro (cloned)" "-" "" "0" "" "" "g.43122597A>G" "" "NA" "" "0000036068" "1" "95" "8" "42977377" "42977377" "subst" "0" "00006" "POMK_000001" "g.42977377T>G" "" "{PMID:Jae 2013:23519211}, {OMIM615247:0001}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.43122234T>G" "" "pathogenic" "" "0000036069" "1" "95" "8" "42977740" "42977740" "subst" "1.21886E-5" "00006" "POMK_000002" "g.42977740A>G" "" "{PMID:Jae 2013:23519211}, {OMIM615247:0002}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.43122597A>G" "" "pathogenic" "" "0000130234" "3" "70" "8" "42977960" "42977960" "subst" "0" "01758" "POMK_000004" "g.42977960C>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.43122817C>G" "" "likely pathogenic" "ACMG" "0000236355" "11" "70" "8" "42977932" "42977932" "subst" "4.06246E-6" "02343" "POMK_000006" "g.42977932C>T" "" "{PMID:Strang-Karlsson 2018:29910097}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43122789C>T" "" "likely pathogenic" "" "0000236356" "21" "70" "8" "42958827" "42958827" "subst" "0.0001259" "02343" "POMK_000005" "g.42958827C>T" "" "{PMID:Strang-Karlsson 2018:29910097}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43103684C>T" "" "likely pathogenic" "" "0000236357" "11" "70" "8" "42977932" "42977932" "subst" "4.06246E-6" "02343" "POMK_000006" "g.42977932C>T" "" "{PMID:Strang-Karlsson 2018:29910097}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43122789C>T" "" "likely pathogenic" "" "0000236358" "21" "70" "8" "42958827" "42958827" "subst" "0.0001259" "02343" "POMK_000005" "g.42958827C>T" "" "{PMID:Strang-Karlsson 2018:29910097}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43103684C>T" "" "likely pathogenic" "" "0000294225" "0" "10" "8" "42977591" "42977591" "subst" "0.00677994" "02330" "POMK_000009" "g.42977591G>C" "" "" "" "POMK(NM_032237.5):c.624G>C (p.L208=, p.(Leu208=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43122448G>C" "" "benign" "" "0000294226" "0" "10" "8" "42977681" "42977681" "subst" "0.000857828" "02330" "POMK_000007" "g.42977681C>T" "" "" "" "POMK(NM_032237.5):c.714C>T (p.S238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43122538C>T" "" "benign" "" "0000534860" "0" "50" "8" "42977740" "42977740" "subst" "1.21886E-5" "02327" "POMK_000002" "g.42977740A>G" "" "" "" "POMK(NM_032237.5):c.773A>G (p.Q258R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43122597A>G" "" "VUS" "" "0000611620" "0" "70" "8" "42977874" "42977874" "subst" "2.03061E-5" "02327" "POMK_000013" "g.42977874C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43122731C>T" "" "likely pathogenic" "" "0000622065" "0" "90" "8" "42958827" "42958827" "subst" "0.0001259" "02325" "POMK_000005" "g.42958827C>T" "" "" "" "POMK(NM_032237.5):c.136C>T (p.R46*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43103684C>T" "" "pathogenic" "" "0000622066" "0" "70" "8" "42977740" "42977740" "subst" "1.21886E-5" "02325" "POMK_000002" "g.42977740A>G" "" "" "" "POMK(NM_032237.5):c.773A>G (p.Q258R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43122597A>G" "" "likely pathogenic" "" "0000690274" "0" "30" "8" "42977531" "42977531" "subst" "0.00114507" "01943" "POMK_000010" "g.42977531C>T" "" "" "" "POMK(NM_032237.4):c.564C>T (p.I188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690275" "0" "30" "8" "42977849" "42977849" "subst" "0.00103971" "01943" "POMK_000012" "g.42977849G>A" "" "" "" "POMK(NM_032237.4):c.882G>A (p.G294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693821" "1" "70" "8" "42977932" "42977932" "subst" "4.06246E-6" "00006" "POMK_000006" "g.42977932C>T" "" "{PMID:Johnson 2018:30060766}" "" "" "" "Germline" "" "" "0" "" "" "g.43122789C>T" "" "likely pathogenic (recessive)" "" "0000693822" "1" "70" "8" "42977932" "42977932" "subst" "4.06246E-6" "00006" "POMK_000006" "g.42977932C>T" "" "{PMID:Johnson 2018:30060766}" "" "" "" "Germline" "" "" "0" "" "" "g.43122789C>T" "" "likely pathogenic (recessive)" "" "0000693840" "2" "70" "8" "42958827" "42958827" "subst" "0.0001259" "00006" "POMK_000005" "g.42958827C>T" "" "{PMID:Johnson 2018:30060766}" "" "" "" "Germline" "" "" "0" "" "" "g.43103684C>T" "" "likely pathogenic (recessive)" "" "0000693841" "2" "70" "8" "42958827" "42958827" "subst" "0.0001259" "00006" "POMK_000005" "g.42958827C>T" "" "{PMID:Johnson 2018:30060766}" "" "" "" "Germline" "" "" "0" "" "" "g.43103684C>T" "" "likely pathogenic (recessive)" "" "0000697658" "0" "70" "8" "42958827" "42958827" "subst" "0.0001259" "00006" "POMK_000005" "g.42958827C>T" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.43103684C>T" "" "likely pathogenic" "" "0000697659" "0" "70" "8" "42977932" "42977932" "subst" "4.06246E-6" "00006" "POMK_000006" "g.42977932C>T" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.43122789C>T" "" "likely pathogenic" "" "0000722000" "0" "30" "8" "42977566" "42977566" "subst" "3.25892E-5" "01804" "POMK_000014" "g.42977566G>T" "" "" "" "POMK(NM_001277971.1):c.599G>T (p.(Arg200Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803659" "0" "30" "8" "42977726" "42977726" "subst" "0.000150347" "01943" "POMK_000011" "g.42977726C>T" "" "" "" "POMK(NM_032237.4):c.759C>T (p.F253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949081" "0" "30" "8" "42977980" "42977980" "subst" "0.000673678" "02326" "POMK_000015" "g.42977980T>G" "" "" "" "POMK(NM_032237.5):c.1013T>G (p.L338R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978219" "0" "50" "8" "42958692" "42958692" "subst" "0" "01804" "POMK_000016" "g.42958692A>G" "" "" "" "POMK(NM_032237.5):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997199" "0" "50" "8" "42977593" "42977593" "subst" "9.77844E-5" "01804" "POMK_000017" "g.42977593C>T" "" "" "" "POMK(NM_001277971.1):c.626C>T (p.(Pro209Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036979" "0" "10" "8" "42977591" "42977591" "subst" "0.00677994" "01804" "POMK_000009" "g.42977591G>C" "" "" "" "POMK(NM_032237.5):c.624G>C (p.L208=, p.(Leu208=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 POMK ## Count = 32 "{{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}}" "0000036056" "00023936" "95" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "5" "0000036060" "00023936" "95" "410" "0" "410" "0" "c.410T>G" "r.(?)" "p.(Leu137Arg)" "5" "0000036061" "00023936" "95" "773" "0" "773" "0" "c.773A>G" "r.(?)" "p.(Gln258Arg)" "5" "0000036062" "00023936" "95" "410" "0" "410" "0" "c.410T>G" "r.(?)" "p.Leu137Arg" "5" "0000036063" "00023936" "95" "773" "0" "773" "0" "c.773A>G" "r.(?)" "p.Gln258Arg" "5" "0000036068" "00023936" "95" "410" "0" "410" "0" "c.410T>G" "r.(?)" "p.(Leu137Arg)" "5" "0000036069" "00023936" "95" "773" "0" "773" "0" "c.773A>G" "r.(?)" "p.(Gln258Arg)" "5" "0000130234" "00023936" "70" "993" "0" "993" "0" "c.993C>G" "r.(?)" "p.(Tyr331*)" "" "0000236355" "00023936" "70" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Pro322Leu)" "5" "0000236356" "00023936" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "4" "0000236357" "00023936" "70" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Pro322Leu)" "5" "0000236358" "00023936" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "4" "0000294225" "00023936" "10" "624" "0" "624" "0" "c.624G>C" "r.(?)" "p.(Leu208=)" "" "0000294226" "00023936" "10" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(Ser238=)" "" "0000534860" "00023936" "50" "773" "0" "773" "0" "c.773A>G" "r.(?)" "p.(Gln258Arg)" "" "0000611620" "00023936" "70" "907" "0" "907" "0" "c.907C>T" "r.(?)" "p.(Arg303Ter)" "" "0000622065" "00023936" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Ter)" "" "0000622066" "00023936" "70" "773" "0" "773" "0" "c.773A>G" "r.(?)" "p.(Gln258Arg)" "" "0000690274" "00023936" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Ile188=)" "" "0000690275" "00023936" "30" "882" "0" "882" "0" "c.882G>A" "r.(?)" "p.(Gly294=)" "" "0000693821" "00023936" "70" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Pro322Leu)" "" "0000693822" "00023936" "70" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Pro322Leu)" "" "0000693840" "00023936" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000693841" "00023936" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000697658" "00023936" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000697659" "00023936" "70" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Pro322Leu)" "" "0000722000" "00023936" "30" "599" "0" "599" "0" "c.599G>T" "r.(?)" "p.(Arg200Leu)" "" "0000803659" "00023936" "30" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Phe253=)" "" "0000949081" "00023936" "30" "1013" "0" "1013" "0" "c.1013T>G" "r.(?)" "p.(Leu338Arg)" "" "0000978219" "00023936" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0000997199" "00023936" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "" "0001036979" "00023936" "10" "624" "0" "624" "0" "c.624G>C" "r.(?)" "p.(Leu208=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000016280" "0000036056" "0000016281" "0000036060" "0000016281" "0000036061" "0000016284" "0000036068" "0000016285" "0000036069" "0000081148" "0000130234" "0000145262" "0000236355" "0000145262" "0000236356" "0000145263" "0000236357" "0000145263" "0000236358" "0000312265" "0000693821" "0000312265" "0000693840" "0000312266" "0000693822" "0000312266" "0000693841" "0000315569" "0000697658" "0000315570" "0000697659"