### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGK) # 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}}" "PIGK" "phosphatidylinositol glycan anchor biosynthesis, class K" "1" "p31.1" "unknown" "NC_000001.10" "UD_132319104091" "" "https://www.LOVD.nl/PIGK" "" "1" "8965" "10026" "605087" "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/PIGK_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-04-04 11:43:03" "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}}" "00001198" "PIGK" "phosphatidylinositol glycan anchor biosynthesis, class K" "001" "NM_005482.2" "" "NP_005473.1" "" "" "" "-45" "4581" "1188" "77554666" "77685132" "00000" "2012-09-13 13:18:34" "" "" ## 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}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05365" "NEDHCAS" "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" "AR" "618879" "" "" "" "00006" "2017-12-29 14:39:52" "00006" "2024-07-24 10:12:34" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PIGK" "05365" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00289333" "" "" "" "2" "" "00081" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "no" "India" "" "0" "" "" "Asia" "Fam1PatII1 Ind1A" "00289334" "" "" "" "2" "" "00081" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "yes" "Italy" "" "0" "" "" "" "Fam2PatII1 Ind2A" "00289335" "" "" "" "1" "" "00081" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "Maghreb" "Fam3PatII1 Ind3" "00289336" "" "" "" "1" "" "00081" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Egypt" "" "0" "" "" "" "Fam4PatII1 Ind4" "00289337" "" "" "" "1" "" "00081" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam5PatIV1 Ind5" "00289338" "" "" "" "1" "" "00081" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Nigeria" "" "0" "" "" "Igbo tribe" "Fam6PatII1 Ind6" "00289339" "" "" "" "1" "" "00081" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Fam7PatII1 Ind7" "00289340" "" "" "" "1" "" "00081" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "5-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam8PatV1 Ind8" "00289341" "" "" "" "2" "" "00081" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "2-generation family, 2 affected BROTHERS, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam9PatII1 Ind9A" "00296268" "" "" "00289333" "1" "" "00006" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "M" "no" "India" "" "0" "" "" "" "Fam1PatII3 Ind1B" "00296269" "" "" "00289334" "1" "" "00006" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "F" "yes" "Italy" "" "0" "" "" "" "Fam2PatII2 Ind2B" "00296270" "" "" "00289341" "1" "" "00006" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam9PatII2 Ind9B" "00452750" "" "" "" "1" "" "01164" "" "" "F" "yes" "(Morocco)" "" "0" "" "" "" "290869" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00289333" "05365" "00289334" "05365" "00289335" "05365" "00289336" "05365" "00289337" "05365" "00289338" "05365" "00289339" "05365" "00289340" "05365" "00289341" "05365" "00296268" "05365" "00296269" "05365" "00296270" "05365" "00452750" "05365" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 05365 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000222963" "05365" "00289333" "00081" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; no skeletal findings; no low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "" "0000223735" "05365" "00289334" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; epilepsy/seizures; dysmorphisms; no ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; skeletal findings; low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223736" "05365" "00289335" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; gastrointestinal anomalies including gastroesophageal reflux disease; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223737" "05365" "00289336" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223738" "05365" "00289337" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; no dysmorphisms; no ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223739" "05365" "00289338" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; movement disorder; epilepsy/seizures; dysmorphisms; no ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223740" "05365" "00289339" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; -; ataxia; epilepsy/seizures; no dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; gastrointestinal anomalies including gastroesophageal reflux disease; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223741" "05365" "00289340" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; no dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223742" "05365" "00289341" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; no hand/no foot anomalies; no skeletal findings" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223743" "05365" "00296268" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; -; movement disorder; no epilepsy/no seizures; dysmorphisms; no ophthalmological anomalies; genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223744" "05365" "00296269" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; skeletal findings; low serum alkaline phosphatase" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000223745" "05365" "00296270" "00006" "Familial, autosomal recessive" "" "hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings" "" "" "" "" "" "" "" "" "glycosylphosphatidylinositol biosynthesis defect" "0000341357" "05365" "00452750" "01164" "Familial, autosomal recessive" "01y" "Triggered by infection, Episodic ataxia, Intellectual disability, Delayed fine motor development; parents consanguineous (cousin and cousin), son of the father\'s cousin with similar symptoms (also ataxia esp. in the context of infections)" "" "" "" "" "" "" "" "NEDHCAS" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000290503" "00289333" "1" "00081" "00081" "2020-03-03 23:02:50" "" "" "SEQ-NG" "DNA" "" "" "0000290504" "00289334" "1" "00081" "00081" "2020-03-03 23:16:47" "" "" "SEQ-NG" "DNA" "" "" "0000290505" "00289335" "1" "00081" "00081" "2020-03-03 23:19:46" "" "" "SEQ-NG" "DNA" "" "" "0000290506" "00289336" "1" "00081" "00081" "2020-03-03 23:21:03" "" "" "SEQ-NG" "DNA" "" "" "0000290507" "00289337" "1" "00081" "00081" "2020-03-03 23:26:07" "" "" "SEQ-NG" "DNA" "" "" "0000290508" "00289338" "1" "00081" "00081" "2020-03-03 23:28:05" "" "" "SEQ-NG" "DNA" "" "" "0000290509" "00289339" "1" "00081" "00081" "2020-03-03 23:29:05" "" "" "SEQ-NG" "DNA" "" "" "0000290510" "00289340" "1" "00081" "00081" "2020-03-03 23:31:34" "" "" "SEQ-NG" "DNA" "" "" "0000290511" "00289341" "1" "00081" "00081" "2020-03-03 23:31:40" "" "" "SEQ-NG" "DNA" "" "" "0000297440" "00296268" "1" "00006" "00006" "2020-04-04 16:09:09" "" "" "SEQ-NG" "DNA" "" "" "0000297441" "00296269" "1" "00006" "00006" "2020-04-04 16:09:09" "" "" "SEQ-NG" "DNA" "" "" "0000297442" "00296270" "1" "00006" "00006" "2020-04-04 16:09:09" "" "" "SEQ-NG" "DNA" "" "" "0000454352" "00452750" "1" "01164" "01164" "2024-07-22 15:44:24" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000290503" "PIGK" "0000290504" "PIGK" "0000290505" "PIGK" "0000290506" "PIGK" "0000290507" "PIGK" "0000290508" "PIGK" "0000290509" "PIGK" "0000290510" "PIGK" "0000290511" "PIGK" "0000297440" "PIGK" "0000297441" "PIGK" "0000297442" "PIGK" "0000454352" "PIGK" ## 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 = 22 "{{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}}" "0000003443" "0" "50" "1" "77661175" "77661175" "subst" "0" "00037" "PIGK_000001" "g.77661175T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.77195490T>C" "" "likely benign" "" "0000011413" "0" "50" "1" "77661175" "77661175" "subst" "0" "00037" "PIGK_000001" "g.77661175T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.77195490T>C" "" "likely benign" "" "0000647184" "11" "90" "1" "77620297" "77620297" "subst" "0" "00081" "PIGK_000002" "g.77620297A>G" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77154612A>G" "" "pathogenic (recessive)" "" "0000647185" "21" "90" "1" "77672406" "77672406" "subst" "0" "00081" "PIGK_000003" "g.77672406G>A" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77206721G>A" "" "pathogenic (recessive)" "" "0000647186" "3" "90" "1" "77635060" "77635060" "subst" "4.21035E-6" "00081" "PIGK_000004" "g.77635060G>A" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77169375G>A" "" "pathogenic (recessive)" "" "0000647187" "11" "90" "1" "77632412" "77632412" "subst" "1.30232E-5" "00081" "PIGK_000005" "g.77632412T>G" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77166727T>G" "" "pathogenic (recessive)" "" "0000647188" "11" "70" "1" "77632412" "77632412" "subst" "1.30232E-5" "00081" "PIGK_000005" "g.77632412T>G" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77166727T>G" "" "pathogenic (recessive)" "" "0000647189" "21" "90" "1" "77676171" "77676171" "subst" "0" "00081" "PIGK_000006" "g.77676171G>A" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77210486G>A" "" "pathogenic (recessive)" "" "0000647190" "21" "70" "1" "77676175" "77676175" "subst" "0" "00081" "PIGK_000007" "g.77676175C>G" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77210490C>G" "" "pathogenic (recessive)" "" "0000647191" "3" "70" "1" "77632412" "77632412" "subst" "1.30232E-5" "00081" "PIGK_000005" "g.77632412T>G" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77166727T>G" "" "pathogenic (recessive)" "" "0000647192" "21" "90" "1" "77629564" "77629564" "subst" "4.0937E-6" "00081" "PIGK_000008" "g.77629564G>A" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77163879G>A" "" "pathogenic (recessive)" "" "0000647193" "3" "70" "1" "77635063" "77635063" "subst" "0" "00081" "PIGK_000009" "g.77635063A>G" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77169378A>G" "" "pathogenic (recessive)" "" "0000647194" "3" "70" "1" "77635058" "77635058" "subst" "1.26055E-5" "00081" "PIGK_000010" "g.77635058C>T" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77169373C>T" "" "pathogenic (recessive)" "" "0000647195" "3" "70" "1" "77635058" "77635058" "subst" "1.26055E-5" "00081" "PIGK_000010" "g.77635058C>T" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77169373C>T" "" "pathogenic (recessive)" "" "0000647196" "11" "90" "1" "77627056" "77627056" "subst" "0" "00081" "PIGK_000011" "g.77627056A>T" "" "{PMID:Nguyen 2020:32220290}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.03.001}" "" "" "" "Germline" "" "" "0" "" "" "g.77161371A>T" "" "pathogenic (recessive)" "" "0000660068" "11" "90" "1" "77620297" "77620297" "subst" "0" "00006" "PIGK_000002" "g.77620297A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.77154612A>G" "" "pathogenic (recessive)" "" "0000660069" "21" "90" "1" "77672406" "77672406" "subst" "0" "00006" "PIGK_000003" "g.77672406G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.77206721G>A" "" "pathogenic (recessive)" "" "0000660070" "3" "90" "1" "77635060" "77635060" "subst" "4.21035E-6" "00006" "PIGK_000004" "g.77635060G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.77169375G>A" "" "pathogenic (recessive)" "" "0000660071" "3" "70" "1" "77635058" "77635058" "subst" "1.26055E-5" "00006" "PIGK_000010" "g.77635058C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.77169373C>T" "" "pathogenic (recessive)" "" "0000989153" "3" "70" "1" "77632412" "77632412" "subst" "1.30232E-5" "01164" "PIGK_000005" "g.77632412T>G" "" "" "" "" "ACMG PM3_STR, PP3_MOD, PM2_SUP, PP1; PMID:32220290" "Germline" "yes" "" "0" "" "" "g.77166727T>G" "" "likely pathogenic (recessive)" "ACMG" "0001032181" "0" "50" "1" "77558080" "77558080" "dup" "0" "01804" "PIGK_000012" "g.77558080dup" "" "" "" "PIGK(NM_005482.3):c.1167dup (p.(His390Alafs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032182" "0" "50" "1" "77635052" "77635052" "dup" "0" "01804" "PIGK_000013" "g.77635052dup" "" "" "" "PIGK(NM_005482.3):c.268dup (p.(Met90Asnfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 PIGK ## Count = 22 "{{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}}" "0000003443" "00001198" "50" "239" "11150" "239" "11150" "c.239+11150A>G" "r.(=)" "p.(=)" "" "0000011413" "00001198" "50" "239" "11150" "239" "11150" "c.239+11150A>G" "r.(=)" "p.(=)" "" "0000647184" "00001198" "90" "823" "0" "823" "0" "c.823T>C" "r.(?)" "p.Cys275Arg" "" "0000647185" "00001198" "90" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.Ser53Phe" "" "0000647186" "00001198" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Ala87Val)" "" "0000647187" "00001198" "90" "479" "0" "479" "0" "c.479A>C" "r.(?)" "p.(Tyr160Ser)" "" "0000647188" "00001198" "70" "479" "0" "479" "0" "c.479A>C" "r.(?)" "p.(Tyr160Ser)" "" "0000647189" "00001198" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Gln33*)" "" "0000647190" "00001198" "70" "94" "-1" "94" "-1" "c.94-1G>C" "r.spl?" "p.?" "" "0000647191" "00001198" "70" "479" "0" "479" "0" "c.479A>C" "r.(?)" "p.(Tyr160Ser)" "" "0000647192" "00001198" "90" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Ala184Val)" "" "0000647193" "00001198" "70" "257" "0" "257" "0" "c.257T>C" "r.(?)" "p.(Leu86Pro)" "" "0000647194" "00001198" "70" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Asp88Asn)" "" "0000647195" "00001198" "70" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Asp88Asn)" "" "0000647196" "00001198" "90" "737" "0" "737" "0" "c.737T>A" "r.(?)" "p.(Met246Lys)" "" "0000660068" "00001198" "90" "823" "0" "823" "0" "c.823T>C" "r.(?)" "p.Cys275Arg" "" "0000660069" "00001198" "90" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.Ser53Phe" "" "0000660070" "00001198" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Ala87Val)" "" "0000660071" "00001198" "70" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Asp88Asn)" "" "0000989153" "00001198" "70" "479" "0" "479" "0" "c.479A>C" "r.(?)" "p.(Tyr160Ser)" "" "0001032181" "00001198" "50" "1167" "0" "1167" "0" "c.1167dup" "r.(?)" "p.(His390Alafs*23)" "" "0001032182" "00001198" "50" "268" "0" "268" "0" "c.268dup" "r.(?)" "p.(Met90Asnfs*4)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003443" "0000000210" "0000011413" "0000290503" "0000647184" "0000290503" "0000647185" "0000290504" "0000647186" "0000290505" "0000647187" "0000290505" "0000647189" "0000290506" "0000647188" "0000290506" "0000647190" "0000290507" "0000647191" "0000290508" "0000647193" "0000290509" "0000647192" "0000290509" "0000647196" "0000290510" "0000647194" "0000290511" "0000647195" "0000297440" "0000660068" "0000297440" "0000660069" "0000297441" "0000660070" "0000297442" "0000660071" "0000454352" "0000989153"