### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRKD1) # 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}}" "PRKD1" "protein kinase D1" "14" "q11" "unknown" "NC_000014.8" "UD_132319766961" "" "https://www.LOVD.nl/PRKD1" "" "1" "9407" "5587" "605435" "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/PRKD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-22 20:27:45" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016845" "PRKD1" "protein kinase D1" "001" "NM_002742.2" "" "NP_002733.2" "" "" "" "-181" "3498" "2739" "30396899" "30045685" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05942" "CHDED" "heart defects, congenital and ectodermal dysplasia (CHDED)" "AD" "617364" "" "" "" "00006" "2021-05-22 20:30:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PRKD1" "05942" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00374056" "" "" "" "2" "" "00006" "{PMID:Shaheen 2015:25713110}" "4-generation family, 2 affected sisters" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2" "00374058" "" "" "" "1" "" "00006" "{PMID:Sifrim 2016:27479907}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "268276/DDDP107179" "00374059" "" "" "" "1" "" "00006" "{PMID:Sifrim 2016:27479907}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "261674/DDDP107434" "00374060" "" "" "" "1" "" "00006" "{PMID:Sifrim 2016:27479907}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "263568/DDDP107562" "00374061" "" "" "" "1" "" "00006" "{PMID:Alter 2021:32817298}" "" "" "" "Spain" "" "0" "" "" "" "PatA" "00374062" "" "" "" "1" "" "00006" "{PMID:Alter 2021:32817298}" "" "" "" "Germany" "" "0" "" "" "" "PatB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00374056" "00198" "00374058" "00152" "00374059" "00152" "00374060" "00152" "00374061" "00198" "00374062" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 05942 ## 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}}" "0000269265" "00198" "00374056" "00006" "Familial, autosomal recessive" "16y" "uneventful pregnancy; 1d-heart murmur, cardiomegaly on chest X-ray, ECG-truncus arteriosus type I; uneventful surgical repair, asymptomatic since; 16y-no dysmorpy or any other systemic manifestations; 16-year-old sister with identical history" "00y00m01d" "" "heart murmur" "" "" "" "" "" "" "truncus arteriosus" "" "0000269267" "00152" "00374058" "00006" "Isolated (sporadic)" "05y10m" "birth 40w, weight 2400 gg (SD -2.48); hypoglycaemia, jaundice and hypothermia; 8w-social smile, 7m-sit, 9m-walk, 11m-first words; height 108.5 cm (SD -0.24), weight 18.9 kg (SD 0.12), OFC 48.7 cm (SD -2.69); pulmonary valvar abnormality; sparse scalp hair; premature loss of primary teeth; delayed speech and language development; microcephaly; bilateral conductive hearing impairment; broad thumb, short digit; dry skin; ectodermal dysplasia, Lipson syndrome; feeding difficulties" "" "" "" "" "" "" "" "" "" "congenital heart disease" "" "0000269268" "00152" "00374059" "00006" "Isolated (sporadic)" "07y01m" "birth 33w, weight 1770 grams (SD -0.83); 2-2.5y-walk; length 121 cm (SD -0.08), weight 44.3 kg (SD 3.77), OFC 50.7 cm (SD -1.81); atrioventricular septal defect; prominent forehead, prominent nasal bridge, disorganised left eyebrow with both medial and lateral flare, anteverted nares, full lips, wide-spaced teeth; global developmental delay; motor delay; specific learning disability; attention deficit hyperactivity disorder; microcephaly, Arnold-Chiari type I malformation, microcephaly; nystagmus" "" "" "" "" "" "" "" "" "" "congenital heart disease" "" "0000269269" "00152" "00374060" "00006" "Isolated (sporadic)" "04y10m" "birth-41w, weight 3685 grams (SD 0.27); abnormality of prenatal development or birth; 5w-social smile; OFC 56 cm (SD 2.19); trioventricular septal defect; sparse scalp hair, high anterior hairline, brachycephaly, depressed nasal bridge, small, widely spaced teeth, Frontal bossing; thoracic cavity stridor; deep plantar creases, 2-3 toe syndactyly, ifnger syndactyly; fragile nails, thin skin, pigmented nevi; scoliosis; generalized hypotonia; asogastric feeding" "" "" "" "" "" "" "" "" "" "congenital heart disease" "" "0000269270" "00198" "00374061" "00006" "Isolated (sporadic)" "" "interauricular communication (ostium secundum) 7y-spontaneous closure, pulmonary stenosis, mild tricuspid insufficiency; depressed nasal bridge, protruding tongue; hypotrichosis, sparse eyebrows; dental abnormalities; black spots in deciduous teeh, absence of several pieces of permanent teeth; no global developmental delay; no motor delay; no intellectual disability; no behavioral/psychiatric manifestations; no seizures; no microcephaly; normal vision, scleral telangiectasia; chronic median otitis, no hypoacusia; arteriovenous fistula in the lingula; nephrocalcinosis; medullary sponge kidney; short thumbs, brachydactyly, shortened metacarpal bones (esp 3rd finger).No X ray from hands available, first toes short and laterally bended. Recurrent patellar luxation left knee, chronic venous insufficiency left limb; generalized teleangiectasia; sternal deformity with marked angulation of the median third of the sternal body and prominence of the third arch bilaterally; scoliosis, right convexity; maxillary and mandibular atrophy; joint hypermobility; autoimmune thyroiditis (TSH 7.17; antiperoxidase Abs >1300,00); persistent hypocalcemia and hypomagnesemia; hypercalciuria and hypocitraturia; low vitamin D 18 (VN 30-100), elevated PTHi 73 (VN 12-65); inonized calcium 1.08 mmol/L (VN 1.15-1.29)" "" "" "" "" "" "" "" "" "" "telangiectasia, ectodermal dysplasia, brachydactyly, congenital heart disease" "" "0000269271" "00198" "00374062" "00006" "Isolated (sporadic)" "" "pulmonary valve stenosis; thin, sparse hair; sparse eyebrows; deep set prodruding ears; high palate; premature loss of primary teeth, reduced number of permanent teeth, permanent teeth with short roots; no global developmental delay; no motor delay; no intellectual disability; no behavioral/psychiatric manifestations; no seizures; no microcephaly; no neuromuscular abnormalities; 2y-recurrent ear infections, partial; destruction of the right ear due to cholesteatoma; short thumbs and short first toe, brachydactyly; X-ray; 8y5m-short and broad metacarpalia 1 & 3-5, dysplastic metaphyses and epiphyses of metacarpalia 3-5, short distal phalanges, cone epiphyses (MC 1, MP 2 and 5), brachymesophalangy 2 & 5, partial syndactyly toe 2-3; thin translucent skin\r\nX-ray of the spine: flattened vertebral bodies with prominent pedicles; parathormone: 9,9 (range 1-7) pmol/l on two occasions" "" "" "" "" "" "" "" "" "" "telangiectasia, ectodermal dysplasia, brachydactyly, congenital heart disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000375288" "00374056" "1" "00006" "00006" "2021-05-22 20:55:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375290" "00374058" "1" "00006" "00006" "2021-05-22 21:46:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000375291" "00374059" "1" "00006" "00006" "2021-05-22 21:52:46" "" "" "SEQ-NG" "DNA" "" "WES" "0000375292" "00374060" "1" "00006" "00006" "2021-05-22 21:58:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000375293" "00374061" "1" "00006" "00006" "2021-05-22 22:24:44" "" "" "SEQ-NG" "DNA" "" "" "0000375294" "00374062" "1" "00006" "00006" "2021-05-22 22:30:09" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000375290" "PRKD1" "0000375291" "PRKD1" "0000375292" "PRKD1" "0000375293" "PRKD1" "0000375294" "PRKD1" ## 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}}" "0000299096" "0" "50" "14" "30093455" "30093455" "subst" "0" "02329" "PRKD1_000002" "g.30093455C>T" "" "" "" "PRKD1(NM_001330069.1):c.1832G>A (p.R611H), PRKD1(NM_002742.3):c.1808G>A (p.R603H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29624249C>T" "" "VUS" "" "0000306405" "0" "30" "14" "30066821" "30066821" "subst" "0" "01943" "PRKD1_000001" "g.30066821C>T" "" "" "" "PRKD1(NM_002742.2):c.2310G>A (p.G770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29597615C>T" "" "likely benign" "" "0000347861" "0" "50" "14" "30099997" "30099997" "subst" "0" "02327" "PRKD1_000003" "g.30099997C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29630791C>T" "" "VUS" "" "0000552480" "0" "30" "14" "30046511" "30046511" "subst" "0.0121434" "01804" "PRKD1_000004" "g.30046511T>C" "" "" "" "PRKD1(NM_002742.3):c.2672A>G (p.(His891Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29577305T>C" "" "likely benign" "" "0000552481" "0" "30" "14" "30066709" "30066709" "subst" "0.000436606" "01804" "PRKD1_000005" "g.30066709T>C" "" "" "" "PRKD1(NM_002742.2):c.2422A>G (p.(Ile808Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29597503T>C" "" "likely benign" "" "0000552482" "0" "30" "14" "30100101" "30100101" "subst" "0" "01804" "PRKD1_000006" "g.30100101C>G" "" "" "" "PRKD1(NM_002742.2):c.1519G>C (p.(Val507Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29630895C>G" "" "likely benign" "" "0000552483" "0" "30" "14" "30100164" "30100164" "subst" "6.51763E-5" "01804" "PRKD1_000007" "g.30100164C>T" "" "" "" "PRKD1(NM_002742.3):c.1456G>A (p.(Gly486Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29630958C>T" "" "likely benign" "" "0000552484" "0" "30" "14" "30102160" "30102160" "subst" "0.00582767" "01804" "PRKD1_000008" "g.30102160A>G" "" "" "" "PRKD1(NM_002742.2):c.1315-8T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29632954A>G" "" "likely benign" "" "0000552485" "0" "30" "14" "30103753" "30103753" "subst" "0.00571373" "01804" "PRKD1_000009" "g.30103753G>A" "" "" "" "PRKD1(NM_002742.2):c.1191-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29634547G>A" "" "likely benign" "" "0000552486" "0" "30" "14" "30108088" "30108088" "subst" "0" "01804" "PRKD1_000010" "g.30108088A>C" "" "" "" "PRKD1(NM_001330069.1):c.743T>G (p.F248C), PRKD1(NM_002742.2):c.719T>G (p.(Phe240Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29638882A>C" "" "likely benign" "" "0000552487" "0" "50" "14" "30108111" "30108111" "subst" "0" "01943" "PRKD1_000011" "g.30108111C>T" "" "" "" "PRKD1(NM_001330069.1):c.721-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29638905C>T" "" "VUS" "" "0000552489" "0" "30" "14" "30194885" "30194885" "subst" "0.00321625" "01804" "PRKD1_000013" "g.30194885A>G" "" "" "" "PRKD1(NM_002742.2):c.265-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29725679A>G" "" "likely benign" "" "0000552491" "0" "30" "14" "30396699" "30396699" "subst" "0.00804829" "01804" "PRKD1_000015" "g.30396699A>G" "" "" "" "PRKD1(NM_002742.2):c.20T>C (p.(Leu7Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29927493A>G" "" "likely benign" "" "0000679969" "0" "50" "14" "30396507" "30396507" "subst" "0" "01943" "PRKD1_000016" "g.30396507T>C" "" "" "" "PRKD1(NM_001330069.1):c.212A>G (p.D71G), PRKD1(NM_002742.3):c.212A>G (p.(Asp71Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724755" "0" "30" "14" "30108088" "30108088" "subst" "0" "01943" "PRKD1_000010" "g.30108088A>C" "" "" "" "PRKD1(NM_001330069.1):c.743T>G (p.F248C), PRKD1(NM_002742.2):c.719T>G (p.(Phe240Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786629" "3" "95" "14" "30093411" "30093411" "subst" "5.38981E-5" "00006" "PRKD1_000017" "g.30093411G>A" "" "{PMID:Shaheen 2015:25713110}" "" "" "pathogenicity questioned, variant considered VUS" "Germline" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000786631" "0" "90" "14" "30095714" "30095714" "subst" "0" "00006" "PRKD1_000018" "g.30095714C>T" "" "{PMID:Sifrim 2016:27479907}," "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000786632" "0" "90" "14" "30107911" "30107911" "subst" "0" "00006" "PRKD1_000019" "g.30107911A>C" "" "{PMID:Sifrim 2016:27479907}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000786633" "0" "90" "14" "30095714" "30095714" "subst" "0" "00006" "PRKD1_000018" "g.30095714C>T" "" "{PMID:Sifrim 2016:27479907}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000786634" "0" "90" "14" "30093455" "30093455" "subst" "0" "00006" "PRKD1_000002" "g.30093455C>T" "" "{PMID:Alter 2021:32817298}" "" "" "" "De novo" "" "rs776034417" "0" "" "" "" "" "pathogenic (dominant)" "" "0000786635" "0" "90" "14" "30095714" "30095714" "subst" "0" "00006" "PRKD1_000020" "g.30095714C>G" "" "{PMID:Alter 2021:32817298}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000853821" "0" "70" "14" "30093455" "30093455" "subst" "0" "01943" "PRKD1_000002" "g.30093455C>T" "" "" "" "PRKD1(NM_001330069.1):c.1832G>A (p.R611H), PRKD1(NM_002742.3):c.1808G>A (p.R603H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000891773" "0" "50" "14" "30066731" "30066733" "del" "0" "02325" "PRKD1_000021" "g.30066731_30066733del" "" "" "" "PRKD1(NM_002742.3):c.2398_2400delTAT (p.Y800del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891774" "0" "70" "14" "30396718" "30396718" "subst" "0" "02327" "PRKD1_000022" "g.30396718T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925870" "0" "30" "14" "30194877" "30194877" "subst" "0.000154965" "02327" "PRKD1_000023" "g.30194877G>C" "" "" "" "PRKD1(NM_002742.2):c.268C>G (p.(Pro90Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950243" "0" "50" "14" "30046643" "30046643" "subst" "3.66805E-5" "02325" "PRKD1_000024" "g.30046643T>C" "" "" "" "PRKD1(NM_002742.3):c.2540A>G (p.D847G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950244" "0" "50" "14" "30194856" "30194856" "subst" "0" "02325" "PRKD1_000025" "g.30194856T>C" "" "" "" "PRKD1(NM_002742.3):c.289A>G (p.M97V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980870" "0" "30" "14" "30046526" "30046526" "subst" "0.00137964" "01804" "PRKD1_000026" "g.30046526T>C" "" "" "" "PRKD1(NM_002742.3):c.2657A>G (p.(Asn886Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980871" "0" "30" "14" "30046611" "30046611" "subst" "9.36818E-5" "01804" "PRKD1_000027" "g.30046611G>A" "" "" "" "PRKD1(NM_002742.3):c.2572C>T (p.(Arg858Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980872" "0" "30" "14" "30103628" "30103628" "subst" "2.84564E-5" "01804" "PRKD1_000028" "g.30103628G>A" "" "" "" "PRKD1(NM_002742.3):c.1310C>T (p.(Thr437Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980873" "0" "30" "14" "30108115" "30108115" "subst" "0.000134345" "01804" "PRKD1_000029" "g.30108115A>G" "" "" "" "PRKD1(NM_002742.3):c.697-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980874" "0" "30" "14" "30135346" "30135346" "subst" "4.06534E-6" "01804" "PRKD1_000030" "g.30135346C>T" "" "" "" "PRKD1(NM_002742.3):c.472G>A (p.(Ala158Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980875" "0" "30" "14" "30396507" "30396507" "subst" "0" "01804" "PRKD1_000016" "g.30396507T>C" "" "" "" "PRKD1(NM_001330069.1):c.212A>G (p.D71G), PRKD1(NM_002742.3):c.212A>G (p.(Asp71Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000962" "0" "50" "14" "30047522" "30047522" "subst" "0" "01804" "PRKD1_000031" "g.30047522G>A" "" "" "" "PRKD1(NM_002742.2):c.2479C>T (p.(Arg827Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000963" "0" "50" "14" "30066921" "30066922" "del" "0" "01804" "PRKD1_000032" "g.30066921_30066922del" "" "" "" "PRKD1(NM_002742.2):c.2209_2210delAA (p.(Lys737fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000964" "0" "30" "14" "30132933" "30132933" "subst" "4.87531E-5" "01804" "PRKD1_000033" "g.30132933G>T" "" "" "" "PRKD1(NM_002742.2):c.668C>A (p.(Ser223Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000965" "0" "50" "14" "30132997" "30132997" "subst" "2.84278E-5" "01804" "PRKD1_000034" "g.30132997T>C" "" "" "" "PRKD1(NM_002742.2):c.604A>G (p.(Arg202Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000966" "0" "50" "14" "30194877" "30194877" "subst" "0.000154965" "01804" "PRKD1_000023" "g.30194877G>C" "" "" "" "PRKD1(NM_002742.2):c.268C>G (p.(Pro90Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000967" "0" "50" "14" "30396471" "30396471" "subst" "0" "01804" "PRKD1_000035" "g.30396471G>A" "" "" "" "PRKD1(NM_002742.2):c.248C>T (p.(Ser83Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000968" "0" "30" "14" "30396700" "30396700" "subst" "0" "01804" "PRKD1_000036" "g.30396700G>C" "" "" "" "PRKD1(NM_002742.2):c.19C>G (p.(Leu7Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000969" "0" "50" "14" "30396706" "30396706" "subst" "0" "01804" "PRKD1_000037" "g.30396706G>C" "" "" "" "PRKD1(NM_002742.2):c.13C>G (p.(Pro5Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026383" "0" "30" "14" "30047583" "30047583" "subst" "0.000157955" "02327" "PRKD1_000038" "g.30047583G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026384" "0" "30" "14" "30069008" "30069008" "subst" "4.1308E-5" "02327" "PRKD1_000039" "g.30069008C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039939" "0" "30" "14" "30046661" "30046661" "subst" "0.000101976" "01804" "PRKD1_000040" "g.30046661T>C" "" "" "" "PRKD1(NM_002742.3):c.2522A>G (p.(Asp841Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039940" "0" "30" "14" "30068976" "30068976" "subst" "0.00619102" "01804" "PRKD1_000041" "g.30068976C>T" "" "" "" "PRKD1(NM_002742.3):c.1953G>A (p.(Thr651=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039941" "0" "30" "14" "30099949" "30099949" "subst" "2.03533E-5" "01804" "PRKD1_000042" "g.30099949G>A" "" "" "" "PRKD1(NM_002742.3):c.1671C>T (p.(His557=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039942" "0" "50" "14" "30100182" "30100182" "subst" "0" "01804" "PRKD1_000043" "g.30100182A>G" "" "" "" "PRKD1(NM_002742.3):c.1438T>C (p.(Ser480Pro))" "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 PRKD1 ## 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}}" "0000299096" "00016845" "50" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Arg603His)" "" "0000306405" "00016845" "30" "2310" "0" "2310" "0" "c.2310G>A" "r.(?)" "p.(Gly770=)" "" "0000347861" "00016845" "50" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(Met541Ile)" "" "0000552480" "00016845" "30" "2672" "0" "2672" "0" "c.2672A>G" "r.(?)" "p.(His891Arg)" "" "0000552481" "00016845" "30" "2422" "0" "2422" "0" "c.2422A>G" "r.(?)" "p.(Ile808Val)" "" "0000552482" "00016845" "30" "1519" "0" "1519" "0" "c.1519G>C" "r.(?)" "p.(Val507Leu)" "" "0000552483" "00016845" "30" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Gly486Arg)" "" "0000552484" "00016845" "30" "1315" "-8" "1315" "-8" "c.1315-8T>C" "r.(=)" "p.(=)" "" "0000552485" "00016845" "30" "1191" "-6" "1191" "-6" "c.1191-6C>T" "r.(=)" "p.(=)" "" "0000552486" "00016845" "30" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Phe240Cys)" "" "0000552487" "00016845" "50" "697" "-1" "697" "-1" "c.697-1G>A" "r.spl?" "p.?" "" "0000552489" "00016845" "30" "265" "-5" "265" "-5" "c.265-5T>C" "r.spl?" "p.?" "" "0000552491" "00016845" "30" "20" "0" "20" "0" "c.20T>C" "r.(?)" "p.(Leu7Pro)" "" "0000679969" "00016845" "50" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asp71Gly)" "" "0000724755" "00016845" "30" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Phe240Cys)" "" "0000786629" "00016845" "95" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Arg618*)" "" "0000786631" "00016845" "90" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Gly592Arg)" "" "0000786632" "00016845" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Leu299Trp)" "" "0000786633" "00016845" "90" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Gly592Arg)" "" "0000786634" "00016845" "90" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Arg603His)" "" "0000786635" "00016845" "90" "1774" "0" "1774" "0" "c.1774G>C" "r.(?)" "p.(Gly592Arg)" "" "0000853821" "00016845" "70" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Arg603His)" "" "0000891773" "00016845" "50" "2398" "0" "2400" "0" "c.2398_2400del" "r.(?)" "p.(Tyr800del)" "" "0000891774" "00016845" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000925870" "00016845" "30" "268" "0" "268" "0" "c.268C>G" "r.(?)" "p.(Pro90Ala)" "" "0000950243" "00016845" "50" "2540" "0" "2540" "0" "c.2540A>G" "r.(?)" "p.(Asp847Gly)" "" "0000950244" "00016845" "50" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Met97Val)" "" "0000980870" "00016845" "30" "2657" "0" "2657" "0" "c.2657A>G" "r.(?)" "p.(Asn886Ser)" "" "0000980871" "00016845" "30" "2572" "0" "2572" "0" "c.2572C>T" "r.(?)" "p.(Arg858Cys)" "" "0000980872" "00016845" "30" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Thr437Met)" "" "0000980873" "00016845" "30" "697" "-5" "697" "-5" "c.697-5T>C" "r.spl?" "p.?" "" "0000980874" "00016845" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000980875" "00016845" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asp71Gly)" "" "0001000962" "00016845" "50" "2479" "0" "2479" "0" "c.2479C>T" "r.(?)" "p.(Arg827Cys)" "" "0001000963" "00016845" "50" "2209" "0" "2210" "0" "c.2209_2210del" "r.(?)" "p.(Lys737Valfs*16)" "" "0001000964" "00016845" "30" "668" "0" "668" "0" "c.668C>A" "r.(?)" "p.(Ser223Tyr)" "" "0001000965" "00016845" "50" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Arg202Gly)" "" "0001000966" "00016845" "50" "268" "0" "268" "0" "c.268C>G" "r.(?)" "p.(Pro90Ala)" "" "0001000967" "00016845" "50" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Ser83Phe)" "" "0001000968" "00016845" "30" "19" "0" "19" "0" "c.19C>G" "r.(?)" "p.(Leu7Val)" "" "0001000969" "00016845" "50" "13" "0" "13" "0" "c.13C>G" "r.(?)" "p.(Pro5Ala)" "" "0001026383" "00016845" "30" "2435" "-17" "2435" "-17" "c.2435-17C>G" "r.(=)" "p.(=)" "" "0001026384" "00016845" "30" "1921" "0" "1921" "0" "c.1921G>A" "r.(?)" "p.(Gly641Ser)" "" "0001039939" "00016845" "30" "2522" "0" "2522" "0" "c.2522A>G" "r.(?)" "p.(Asp841Gly)" "" "0001039940" "00016845" "30" "1953" "0" "1953" "0" "c.1953G>A" "r.(?)" "p.(=)" "" "0001039941" "00016845" "30" "1671" "0" "1671" "0" "c.1671C>T" "r.(?)" "p.(=)" "" "0001039942" "00016845" "50" "1438" "0" "1438" "0" "c.1438T>C" "r.(?)" "p.(Ser480Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000375288" "0000786629" "0000375290" "0000786631" "0000375291" "0000786632" "0000375292" "0000786633" "0000375293" "0000786634" "0000375294" "0000786635"