### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PRKCG)
# 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}}"
"PRKCG" "protein kinase C, gamma" "19" "q13.4" "unknown" "NG_009114.1" "UD_132118410728" "" "https://www.LOVD.nl/PRKCG" "" "1" "9402" "5582" "176980" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PRKCG_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-04 00:00:00" "00006" "2020-11-25 19:51:43" "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}}"
"00016839" "PRKCG" "protein kinase C, gamma" "001" "NM_002739.3" "" "NP_002730.1" "" "" "" "-282" "2846" "2094" "54385467" "54410901" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00142" "SCA5" "ataxia, spinocerebellar, type 5 (SCA-5)" "AD" "600224" "" "" "" "00006" "2013-06-10 21:18:33" "00006" "2021-12-10 21:51:32"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"01474" "SCA1" "ataxia, spinocerebellar, type 1 (SCA-1)" "AD" "164400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01475" "SCA7" "ataxia, spinocerebellar, type 7 (SCA-7)" "AD" "164500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01564" "SCA6" "ataxia, spinocerebellar, type 6" "AD" "183086" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-03-22 16:53:30"
"02456" "SCA10" "ataxia, spinocerebellar, type 10 (SCA-10)" "AD" "603516" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02512" "SCA11" "ataxia, spinocerebellar, type 11 (SCA-11)" "AD" "604432" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02542" "SCA14" "ataxia, spinocerebellar, type 14 (SCA-14)" "AD" "605361" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02634" "SCA17" "ataxia, spinocerebellar, type 17 (SCA-17)" "AD" "607136" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02789" "SCA8" "ataxia, spinocerebellar, type 8 (SCA-8)" "AD" "608768" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02844" "SCA27A" "ataxia, spinocerebellar, type 27A" "AD" "193003" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-31 08:59:15"
"05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"PRKCG" "02542"
## Individuals ## Do not remove or alter this header ##
## Count = 8
"{{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}}"
"00073123" "" "" "" "1" "" "01400" "ATX425" "" "M" "" "France" "" "0" "" "" "" ""
"00073124" "" "" "" "1" "" "01400" "ATX535" "" "M" "" "France" "" "0" "" "" "" ""
"00106553" "" "" "" "1" "" "02029" "" "Mother is also affected" "F" "?" "(Germany)" "" "0" "no" "" "" "606181126"
"00248423" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00292194" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00390050" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "187548"
"00408703" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "patient and affected brother" "" "" "France" "" "0" "" "" "" "Pat29"
"00409979" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 16
"{{individualid}}" "{{diseaseid}}"
"00073123" "02542"
"00073124" "02542"
"00106553" "00142"
"00106553" "01474"
"00106553" "01475"
"00106553" "01564"
"00106553" "02456"
"00106553" "02512"
"00106553" "02542"
"00106553" "02634"
"00106553" "02789"
"00106553" "02844"
"00292194" "00198"
"00390050" "02542"
"00408703" "00198"
"00409979" "05356"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00142, 00198, 01474, 01475, 01564, 02456, 02512, 02542, 02634, 02789, 02844, 05356
## Count = 6
"{{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}}"
"0000053283" "02542" "00073124" "01400" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000053284" "02542" "00073123" "01400" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000084358" "02542" "00106553" "02029" "Familial, autosomal dominant" "73y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000187414" "00198" "00248423" "01164" "Unknown" "" "HP:0012759 (Neurodevelopmental abnormality); HP:0011458 (Abdominal symptom); HP:0002013 (Vomiting); HP:0002066 (Gait ataxia); HP:0100022 (Abnormality of movement); HP:0001627 (Abnormality of cardiac morphology); HP:0001637 (Abnormality of the myocardium); HP:0012547 (Abnormal involuntary eye movements); HP:0001263 (Global developmental delay); HP:0000666 (Horizontal nystagmus)" "" "" "" "" "" "" "" "" "" "" ""
"0000283590" "02542" "00390050" "01164" "Familial, autosomal dominant" "" "Ataxia, Cerebellar atrophy, Spastic paraplegia, Optic neuropathy, Dysarthria, Difficulty in tongue movements, Hyperreflexia; Son (untested) with similar symptoms" "" "30y" "" "" "" "" "" "" "" "" ""
"0000300822" "00198" "00408703" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cerebellar ataxia" ""
## Screenings ## Do not remove or alter this header ##
## Count = 8
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000073281" "00073123" "1" "01400" "01400" "2016-06-07 17:05:10" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000073282" "00073124" "1" "01400" "01400" "2016-06-07 17:15:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000107023" "00106553" "1" "02029" "02029" "2017-07-06 14:29:52" "" "" "SEQ" "DNA" "" ""
"0000249527" "00248423" "1" "01164" "01164" "2019-07-23 18:22:51" "" "" "SEQ-NG-S" "DNA" "" ""
"0000293362" "00292194" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000391291" "00390050" "1" "01164" "01164" "2021-11-09 13:04:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000409966" "00408703" "1" "00006" "00006" "2022-04-25 20:53:24" "" "" "SEQ-NG" "DNA" "" ""
"0000411241" "00409979" "1" "01741" "01741" "2022-05-16 13:31:18" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{geneid}}"
"0000073281" "PRKCG"
"0000073282" "PRKCG"
"0000107023" "PRKCG"
"0000391291" "PRKCG"
"0000411241" "PRKCG"
## 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 = 69
"{{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}}"
"0000116908" "21" "90" "19" "54409983" "54409987" "delins" "0" "01400" "PRKCG_000002" "g.54409983_54409987delinsCA" "" "" "" "1928_1932delTTGACinsCA" "" "Germline" "" "" "0" "" "" "g.53906729_53906733delinsCA" "" "pathogenic" ""
"0000116909" "0" "90" "19" "54387466" "54387466" "subst" "0" "01400" "PRKCG_000001" "g.54387466G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53884212G>C" "" "pathogenic" ""
"0000172765" "0" "50" "19" "54394982" "54394982" "subst" "0" "02029" "PRKCG_000003" "g.54394982A>G" "" "" "" "12539A>G" "" "Germline" "?" "" "0" "" "" "g.53891728A>G" "" "VUS" ""
"0000249740" "0" "70" "19" "54385855" "54385855" "subst" "0" "02325" "PRKCG_000006" "g.54385855A>G" "" "" "" "PRKCG(NM_002739.5):c.107A>G (p.H36R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53882601A>G" "" "likely pathogenic" ""
"0000251152" "0" "10" "19" "54410114" "54410114" "subst" "0.00194749" "02326" "PRKCG_000024" "g.54410114A>G" "" "" "" "PRKCG(NM_002739.3):c.2059A>G (p.S687G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53906860A>G" "" "benign" ""
"0000252505" "0" "90" "19" "54393263" "54393263" "subst" "0" "02326" "PRKCG_000026" "g.54393263A>C" "" "" "" "PRKCG(NM_002739.3):c.521A>C (p.H174P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53890009A>C" "" "pathogenic" ""
"0000297357" "0" "50" "19" "54407979" "54407979" "subst" "0.000114125" "02325" "PRKCG_000022" "g.54407979G>A" "" "" "" "PRKCG(NM_002739.3):c.1747G>A (p.V583M), PRKCG(NM_002739.5):c.1747G>A (p.V583M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53904725G>A" "" "VUS" ""
"0000297358" "0" "10" "19" "54394965" "54394965" "subst" "0.406851" "02325" "PRKCG_000012" "g.54394965T>C" "" "" "" "PRKCG(NM_002739.3):c.567T>C (p.N189=), PRKCG(NM_002739.5):c.567T>C (p.N189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53891711T>C" "" "benign" ""
"0000297359" "0" "10" "19" "54395098" "54395098" "subst" "0.404798" "02325" "PRKCG_000015" "g.54395098G>T" "" "" "" "PRKCG(NM_002739.3):c.686+14G>T, PRKCG(NM_002739.5):c.686+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53891844G>T" "" "benign" ""
"0000297360" "0" "50" "19" "54395791" "54395791" "subst" "0" "02325" "PRKCG_000016" "g.54395791C>T" "" "" "" "PRKCG(NM_002739.3):c.715C>T (p.R239W), PRKCG(NM_002739.5):c.715C>T (p.R239W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53892537C>T" "" "VUS" ""
"0000297361" "0" "10" "19" "54385820" "54385820" "subst" "0.950789" "02325" "PRKCG_000005" "g.54385820C>T" "" "" "" "PRKCG(NM_002739.3):c.72C>T (p.A24=), PRKCG(NM_002739.5):c.72C>T (p.A24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53882566C>T" "" "benign" ""
"0000301213" "0" "50" "19" "54385513" "54385513" "subst" "0" "02326" "PRKCG_000004" "g.54385513C>T" "" "" "" "PRKCG(NM_002739.3):c.-236C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53882259C>T" "" "VUS" ""
"0000301214" "0" "10" "19" "54403703" "54403703" "subst" "0.0125278" "02326" "PRKCG_000018" "g.54403703C>G" "" "" "" "PRKCG(NM_002739.3):c.1404C>G (p.L468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53900449C>G" "" "benign" ""
"0000301215" "0" "50" "19" "54407916" "54407918" "del" "0" "02326" "PRKCG_000020" "g.54407916_54407918del" "" "" "" "PRKCG(NM_002739.3):c.1684_1686delGAG (p.E562del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53904662_53904664del" "" "VUS" ""
"0000301216" "0" "10" "19" "54387419" "54387419" "subst" "0.0227655" "02326" "PRKCG_000007" "g.54387419C>T" "" "" "" "PRKCG(NM_002739.3):c.207C>T (p.C69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53884165C>T" "" "benign" ""
"0000301217" "0" "10" "19" "54387497" "54387497" "subst" "0.0110381" "02326" "PRKCG_000008" "g.54387497C>T" "" "" "" "PRKCG(NM_002739.3):c.285C>T (p.D95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53884243C>T" "" "benign" ""
"0000301218" "0" "90" "19" "54392959" "54392959" "subst" "0" "02326" "PRKCG_000009" "g.54392959G>A" "" "" "" "PRKCG(NM_002739.3):c.353G>A (p.G118D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53889705G>A" "" "pathogenic" ""
"0000301219" "0" "50" "19" "54392989" "54392989" "subst" "0" "02326" "PRKCG_000010" "g.54392989G>T" "" "" "" "PRKCG(NM_002739.3):c.383G>T (p.G128V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53889735G>T" "" "VUS" ""
"0000301220" "0" "50" "19" "54395009" "54395009" "subst" "0" "02326" "PRKCG_000013" "g.54395009C>G" "" "" "" "PRKCG(NM_002739.3):c.611C>G (p.P204R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53891755C>G" "" "VUS" ""
"0000301221" "0" "10" "19" "54385820" "54385820" "subst" "0.950789" "02326" "PRKCG_000005" "g.54385820C>T" "" "" "" "PRKCG(NM_002739.3):c.72C>T (p.A24=), PRKCG(NM_002739.5):c.72C>T (p.A24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53882566C>T" "" "benign" ""
"0000306389" "0" "30" "19" "54403489" "54403489" "subst" "0.000150256" "01943" "PRKCG_000017" "g.54403489C>T" "" "" "" "PRKCG(NM_002739.3):c.1284C>T (p.D428=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53900235C>T" "" "likely benign" ""
"0000306390" "0" "10" "19" "54403703" "54403703" "subst" "0.0125278" "01943" "PRKCG_000018" "g.54403703C>G" "" "" "" "PRKCG(NM_002739.3):c.1404C>G (p.L468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53900449C>G" "" "benign" ""
"0000306391" "0" "10" "19" "54403925" "54403925" "subst" "0.029595" "01943" "PRKCG_000019" "g.54403925T>C" "" "" "" "PRKCG(NM_002739.3):c.1497T>C (p.F499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53900671T>C" "" "benign" ""
"0000306392" "0" "30" "19" "54407954" "54407954" "subst" "0.00180463" "01943" "PRKCG_000021" "g.54407954C>T" "" "" "" "PRKCG(NM_002739.3):c.1722C>T (p.Y574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53904700C>T" "" "likely benign" ""
"0000306393" "0" "50" "19" "54407979" "54407979" "subst" "0.000114125" "01943" "PRKCG_000022" "g.54407979G>A" "" "" "" "PRKCG(NM_002739.3):c.1747G>A (p.V583M), PRKCG(NM_002739.5):c.1747G>A (p.V583M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53904725G>A" "" "VUS" ""
"0000306394" "0" "30" "19" "54410015" "54410015" "subst" "2.44284E-5" "01943" "PRKCG_000023" "g.54410015C>T" "" "" "" "PRKCG(NM_002739.3):c.1960C>T (p.L654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53906761C>T" "" "likely benign" ""
"0000306395" "0" "30" "19" "54410134" "54410134" "subst" "0" "01943" "PRKCG_000025" "g.54410134T>C" "" "" "" "PRKCG(NM_002739.3):c.2079T>C (p.P693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53906880T>C" "" "likely benign" ""
"0000306396" "0" "10" "19" "54387419" "54387419" "subst" "0.0227655" "01943" "PRKCG_000007" "g.54387419C>T" "" "" "" "PRKCG(NM_002739.3):c.207C>T (p.C69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53884165C>T" "" "benign" ""
"0000306397" "0" "10" "19" "54387497" "54387497" "subst" "0.0110381" "01943" "PRKCG_000008" "g.54387497C>T" "" "" "" "PRKCG(NM_002739.3):c.285C>T (p.D95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53884243C>T" "" "benign" ""
"0000306398" "0" "50" "19" "54393236" "54393236" "subst" "0" "01943" "PRKCG_000011" "g.54393236T>A" "" "" "" "PRKCG(NM_002739.3):c.494T>A (p.I165N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53889982T>A" "" "VUS" ""
"0000306399" "0" "10" "19" "54394965" "54394965" "subst" "0.406851" "01943" "PRKCG_000012" "g.54394965T>C" "" "" "" "PRKCG(NM_002739.3):c.567T>C (p.N189=), PRKCG(NM_002739.5):c.567T>C (p.N189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53891711T>C" "" "benign" ""
"0000306400" "0" "30" "19" "54395040" "54395040" "subst" "0.00132376" "01943" "PRKCG_000014" "g.54395040G>A" "" "" "" "PRKCG(NM_002739.3):c.642G>A (p.T214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53891786G>A" "" "likely benign" ""
"0000306401" "0" "10" "19" "54395098" "54395098" "subst" "0.404798" "01943" "PRKCG_000015" "g.54395098G>T" "" "" "" "PRKCG(NM_002739.3):c.686+14G>T, PRKCG(NM_002739.5):c.686+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53891844G>T" "" "benign" ""
"0000306402" "0" "50" "19" "54395791" "54395791" "subst" "0" "01943" "PRKCG_000016" "g.54395791C>T" "" "" "" "PRKCG(NM_002739.3):c.715C>T (p.R239W), PRKCG(NM_002739.5):c.715C>T (p.R239W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53892537C>T" "" "VUS" ""
"0000306403" "0" "10" "19" "54385820" "54385820" "subst" "0.950789" "01943" "PRKCG_000005" "g.54385820C>T" "" "" "" "PRKCG(NM_002739.3):c.72C>T (p.A24=), PRKCG(NM_002739.5):c.72C>T (p.A24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53882566C>T" "" "benign" ""
"0000342370" "0" "50" "19" "54395791" "54395791" "subst" "0" "02327" "PRKCG_000016" "g.54395791C>T" "" "" "" "PRKCG(NM_002739.3):c.715C>T (p.R239W), PRKCG(NM_002739.5):c.715C>T (p.R239W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53892537C>T" "" "VUS" ""
"0000350759" "0" "50" "19" "54395900" "54395900" "dup" "0" "02327" "PRKCG_000027" "g.54395900dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53892646dup" "" "VUS" ""
"0000568345" "0" "50" "19" "54385884" "54385884" "subst" "0" "02326" "PRKCG_000028" "g.54385884C>T" "" "" "" "PRKCG(NM_002739.3):c.136C>T (p.P46S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53882630C>T" "" "VUS" ""
"0000568346" "0" "70" "19" "54386433" "54386433" "subst" "0" "02327" "PRKCG_000029" "g.54386433G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53883179G>C" "" "likely pathogenic" ""
"0000568347" "0" "50" "19" "54387417" "54387417" "subst" "0" "02327" "PRKCG_000030" "g.54387417T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53884163T>C" "" "VUS" ""
"0000568348" "0" "90" "19" "54392947" "54392947" "subst" "0" "02326" "PRKCG_000031" "g.54392947G>A" "" "" "" "PRKCG(NM_002739.3):c.341G>A (p.C114Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53889693G>A" "" "pathogenic" ""
"0000568349" "0" "50" "19" "54393139" "54393139" "subst" "0" "02327" "PRKCG_000032" "g.54393139G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53889885G>C" "" "VUS" ""
"0000568350" "0" "30" "19" "54394983" "54394983" "subst" "4.87266E-5" "01943" "PRKCG_000033" "g.54394983T>C" "" "" "" "PRKCG(NM_002739.3):c.585T>C (p.Y195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53891729T>C" "" "likely benign" ""
"0000568351" "0" "50" "19" "54401349" "54401349" "subst" "0" "01943" "PRKCG_000034" "g.54401349A>C" "" "" "" "PRKCG(NM_002739.3):c.1076A>C (p.K359T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53898095A>C" "" "VUS" ""
"0000568352" "0" "30" "19" "54403481" "54403481" "subst" "1.62458E-5" "01943" "PRKCG_000035" "g.54403481C>T" "" "" "" "PRKCG(NM_002739.3):c.1282-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53900227C>T" "" "likely benign" ""
"0000568353" "0" "30" "19" "54403489" "54403489" "subst" "0.000150256" "01804" "PRKCG_000017" "g.54403489C>T" "" "" "" "PRKCG(NM_002739.3):c.1284C>T (p.D428=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53900235C>T" "" "likely benign" ""
"0000568354" "0" "30" "19" "54403952" "54403952" "subst" "0.000142146" "01943" "PRKCG_000036" "g.54403952C>A" "" "" "" "PRKCG(NM_002739.3):c.1524C>A (p.P508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53900698C>A" "" "likely benign" ""
"0000568355" "0" "50" "19" "54409614" "54409614" "subst" "0" "02327" "CACNG7_000002" "g.54409614A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53906360A>G" "" "VUS" ""
"0000578318" "3" "50" "19" "54403508" "54403508" "subst" "0" "01164" "PRKCG_000037" "g.54403508G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53900254G>C" "" "VUS" "ACMG"
"0000617847" "0" "30" "19" "54385927" "54385927" "subst" "0" "02326" "PRKCG_000038" "g.54385927A>T" "" "" "" "PRKCG(NM_002739.3):c.170+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53882673A>T" "" "likely benign" ""
"0000617848" "0" "30" "19" "54394921" "54394921" "subst" "0.00306208" "01943" "PRKCG_000039" "g.54394921C>T" "" "" "" "PRKCG(NM_002739.3):c.530-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53891667C>T" "" "likely benign" ""
"0000650051" "1" "70" "19" "54385902" "54385902" "subst" "0" "03575" "PRKCG_000040" "g.54385902T>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797045900}" "Germline" "" "rs797045900" "0" "" "" "g.53882648T>A" "" "likely pathogenic" ""
"0000658656" "0" "50" "19" "54410004" "54410004" "subst" "0" "02325" "CACNG7_000004" "g.54410004C>T" "" "" "" "PRKCG(NM_002739.5):c.1949C>T (p.A650V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53906750C>T" "" "VUS" ""
"0000681506" "0" "90" "19" "54392959" "54392959" "subst" "0" "01943" "PRKCG_000009" "g.54392959G>A" "" "" "" "PRKCG(NM_002739.3):c.353G>A (p.G118D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000809042" "0" "50" "19" "54392944" "54392946" "del" "0" "02325" "PRKCG_000041" "g.54392944_54392946del" "" "" "" "PRKCG(NM_002739.5):c.338_340delTCT (p.F113del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809043" "0" "50" "19" "54401291" "54401291" "subst" "4.06085E-6" "01943" "PRKCG_000042" "g.54401291G>T" "" "" "" "PRKCG(NM_002739.3):c.1018G>T (p.G340W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809044" "0" "50" "19" "54409649" "54409649" "subst" "0" "01943" "CACNG7_000005" "g.54409649C>T" "" "" "" "PRKCG(NM_002739.3):c.1843C>T (p.R615C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000821031" "0" "70" "19" "54392964" "54392964" "subst" "0" "01164" "PRKCG_000043" "g.54392964C>T" "" "PMID: 34292398, 34445196" "" "" "ACMG: PM1, PS4_SUP, PM2_SUP, PP2, PP3" "Germline" "?" "" "" "" "" "" "VCV001027477.1" "likely pathogenic (dominant)" "ACMG"
"0000847194" "0" "50" "19" "54393250" "54393250" "subst" "0" "00006" "PRKCG_000044" "g.54393250G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000855689" "0" "70" "19" "54392959" "54392959" "subst" "0" "02327" "PRKCG_000009" "g.54392959G>A" "" "" "" "PRKCG(NM_002739.3):c.353G>A (p.G118D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000855690" "0" "50" "19" "54393208" "54393209" "ins" "0" "02325" "PRKCG_000045" "g.54393208_54393209insCAC" "" "" "" "PRKCG(NM_002739.5):c.466_467insCAC (p.E156delinsAQ)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855691" "0" "30" "19" "54393211" "54393211" "subst" "0" "02325" "PRKCG_000046" "g.54393211C>G" "" "" "" "PRKCG(NM_002739.5):c.469C>G (p.R157G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855692" "0" "50" "19" "54395035" "54395035" "subst" "8.12117E-6" "01943" "PRKCG_000047" "g.54395035C>T" "" "" "" "PRKCG(NM_002739.3):c.637C>T (p.R213*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000866261" "0" "50" "19" "54395887" "54395887" "subst" "6.16503E-5" "01943" "PRKCG_000048" "g.54395887G>A" "" "" "" "PRKCG(NM_002739.3):c.811G>A (p.V271M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000868281" "0" "50" "19" "54396608" "54396608" "subst" "0" "01741" "PRKCG_000049" "g.54396608T>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0001005110" "0" "50" "19" "54392992" "54392992" "subst" "0" "02329" "PRKCG_000050" "g.54392992T>G" "" "" "" "PRKCG(NM_002739.5):c.386T>G (p.M129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001005111" "0" "30" "19" "54396286" "54396286" "subst" "1.21868E-5" "01804" "PRKCG_000051" "g.54396286C>A" "" "" "" "PRKCG(NM_002739.3):c.866C>A (p.(Pro289Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001027265" "0" "50" "19" "54401783" "54401783" "subst" "0" "02325" "PRKCG_000052" "g.54401783C>A" "" "" "" "PRKCG(NM_002739.5):c.1182C>A (p.D394E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001056786" "0" "70" "19" "54403680" "54403680" "subst" "9.34003E-5" "01804" "PRKCG_000053" "g.54403680G>A" "" "" "" "PRKCG(NM_002739.5):c.1381G>A (p.(Ala461Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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 PRKCG
## Count = 69
"{{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}}"
"0000116908" "00016839" "90" "1928" "0" "1932" "0" "c.1928_1932delinsCA" "r.(?)" "p.(Phe643_Asp644delinsSer)" "18"
"0000116909" "00016839" "90" "254" "0" "254" "0" "c.254G>C" "r.(?)" "p.(Cys85Ser)" "3"
"0000172765" "00016839" "50" "584" "0" "584" "0" "c.584A>G" "r.(584a>g)" "p.(Tyr195Cys)" "6"
"0000249740" "00016839" "70" "107" "0" "107" "0" "c.107A>G" "r.(?)" "p.(His36Arg)" ""
"0000251152" "00016839" "10" "2059" "0" "2059" "0" "c.2059A>G" "r.(?)" "p.(Ser687Gly)" ""
"0000252505" "00016839" "90" "521" "0" "521" "0" "c.521A>C" "r.(?)" "p.(His174Pro)" ""
"0000297357" "00016839" "50" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Val583Met)" ""
"0000297358" "00016839" "10" "567" "0" "567" "0" "c.567T>C" "r.(?)" "p.(Asn189=)" ""
"0000297359" "00016839" "10" "686" "14" "686" "14" "c.686+14G>T" "r.(=)" "p.(=)" ""
"0000297360" "00016839" "50" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Trp)" ""
"0000297361" "00016839" "10" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Ala24=)" ""
"0000301213" "00016839" "50" "-236" "0" "-236" "0" "c.-236C>T" "r.(?)" "p.(=)" ""
"0000301214" "00016839" "10" "1404" "0" "1404" "0" "c.1404C>G" "r.(?)" "p.(Leu468=)" ""
"0000301215" "00016839" "50" "1684" "0" "1686" "0" "c.1684_1686del" "r.(?)" "p.(Glu562del)" ""
"0000301216" "00016839" "10" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Cys69=)" ""
"0000301217" "00016839" "10" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Asp95=)" ""
"0000301218" "00016839" "90" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Gly118Asp)" ""
"0000301219" "00016839" "50" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Gly128Val)" ""
"0000301220" "00016839" "50" "611" "0" "611" "0" "c.611C>G" "r.(?)" "p.(Pro204Arg)" ""
"0000301221" "00016839" "10" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Ala24=)" ""
"0000306389" "00016839" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asp428=)" ""
"0000306390" "00016839" "10" "1404" "0" "1404" "0" "c.1404C>G" "r.(?)" "p.(Leu468=)" ""
"0000306391" "00016839" "10" "1497" "0" "1497" "0" "c.1497T>C" "r.(?)" "p.(Phe499=)" ""
"0000306392" "00016839" "30" "1722" "0" "1722" "0" "c.1722C>T" "r.(?)" "p.(Tyr574=)" ""
"0000306393" "00016839" "50" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Val583Met)" ""
"0000306394" "00016839" "30" "1960" "0" "1960" "0" "c.1960C>T" "r.(?)" "p.(Leu654=)" ""
"0000306395" "00016839" "30" "2079" "0" "2079" "0" "c.2079T>C" "r.(?)" "p.(Pro693=)" ""
"0000306396" "00016839" "10" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Cys69=)" ""
"0000306397" "00016839" "10" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Asp95=)" ""
"0000306398" "00016839" "50" "494" "0" "494" "0" "c.494T>A" "r.(?)" "p.(Ile165Asn)" ""
"0000306399" "00016839" "10" "567" "0" "567" "0" "c.567T>C" "r.(?)" "p.(Asn189=)" ""
"0000306400" "00016839" "30" "642" "0" "642" "0" "c.642G>A" "r.(?)" "p.(Thr214=)" ""
"0000306401" "00016839" "10" "686" "14" "686" "14" "c.686+14G>T" "r.(=)" "p.(=)" ""
"0000306402" "00016839" "50" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Trp)" ""
"0000306403" "00016839" "10" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Ala24=)" ""
"0000342370" "00016839" "50" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Trp)" ""
"0000350759" "00016839" "50" "821" "3" "821" "3" "c.821+3dup" "r.spl?" "p.?" ""
"0000568345" "00016839" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" ""
"0000568346" "00016839" "70" "187" "0" "187" "0" "c.187G>C" "r.(?)" "p.(Gly63Arg)" ""
"0000568347" "00016839" "50" "205" "0" "205" "0" "c.205T>C" "r.(?)" "p.(Cys69Arg)" ""
"0000568348" "00016839" "90" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Cys114Tyr)" ""
"0000568349" "00016839" "50" "398" "-1" "398" "-1" "c.398-1G>C" "r.spl?" "p.?" ""
"0000568350" "00016839" "30" "585" "0" "585" "0" "c.585T>C" "r.(?)" "p.(Tyr195=)" ""
"0000568351" "00016839" "50" "1076" "0" "1076" "0" "c.1076A>C" "r.(?)" "p.(Lys359Thr)" ""
"0000568352" "00016839" "30" "1282" "-6" "1282" "-6" "c.1282-6C>T" "r.(=)" "p.(=)" ""
"0000568353" "00016839" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asp428=)" ""
"0000568354" "00016839" "30" "1524" "0" "1524" "0" "c.1524C>A" "r.(?)" "p.(Pro508=)" ""
"0000568355" "00016839" "50" "1808" "0" "1808" "0" "c.1808A>G" "r.(?)" "p.(Asp603Gly)" ""
"0000578318" "00016839" "50" "1303" "0" "1303" "0" "c.1303G>C" "r.(?)" "p.Glu435Gln" ""
"0000617847" "00016839" "30" "170" "9" "170" "9" "c.170+9A>T" "r.(=)" "p.(=)" ""
"0000617848" "00016839" "30" "530" "-7" "530" "-7" "c.530-7C>T" "r.(=)" "p.(=)" ""
"0000650051" "00016839" "70" "154" "0" "154" "0" "c.154T>A" "r.(?)" "p.(Cys52Ser)" ""
"0000658656" "00016839" "50" "1949" "0" "1949" "0" "c.1949C>T" "r.(?)" "p.(Ala650Val)" ""
"0000681506" "00016839" "90" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Gly118Asp)" ""
"0000809042" "00016839" "50" "338" "0" "340" "0" "c.338_340del" "r.(?)" "p.(Phe113del)" ""
"0000809043" "00016839" "50" "1018" "0" "1018" "0" "c.1018G>T" "r.(?)" "p.(Gly340Trp)" ""
"0000809044" "00016839" "50" "1843" "0" "1843" "0" "c.1843C>T" "r.(?)" "p.(Arg615Cys)" ""
"0000821031" "00016839" "70" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Leu120Phe)" ""
"0000847194" "00016839" "50" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Ala170Thr)" ""
"0000855689" "00016839" "70" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Gly118Asp)" ""
"0000855690" "00016839" "50" "466" "0" "467" "0" "c.466_467insCAC" "r.(?)" "p.(Glu156delinsAlaGln)" ""
"0000855691" "00016839" "30" "469" "0" "469" "0" "c.469C>G" "r.(?)" "p.(Arg157Gly)" ""
"0000855692" "00016839" "50" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213*)" ""
"0000866261" "00016839" "50" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Val271Met)" ""
"0000868281" "00016839" "50" "910" "-8" "910" "-8" "c.910-8T>G" "r.spl?" "p.(?)" ""
"0001005110" "00016839" "50" "386" "0" "386" "0" "c.386T>G" "r.(?)" "p.(Met129Arg)" ""
"0001005111" "00016839" "30" "866" "0" "866" "0" "c.866C>A" "r.(?)" "p.(Pro289Gln)" ""
"0001027265" "00016839" "50" "1182" "0" "1182" "0" "c.1182C>A" "r.(?)" "p.(Asp394Glu)" ""
"0001056786" "00016839" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Ala461Thr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}" "{{variantid}}"
"0000073281" "0000116908"
"0000073282" "0000116909"
"0000107023" "0000172765"
"0000249527" "0000578318"
"0000293362" "0000650051"
"0000391291" "0000821031"
"0000409966" "0000847194"
"0000411241" "0000868281"