### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRKG1) # 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}}" "PRKG1" "protein kinase, cGMP-dependent, type I" "10" "q11.2" "unknown" "NG_029982.1" "UD_134752086592" "" "https://www.LOVD.nl/PRKG1" "" "1" "9414" "5592" "176894" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PRKG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-04-15 11:59:03" "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}}" "00025634" "PRKG1" "transcript variant 2" "002" "NM_006258.3" "" "NP_006249.1" "" "" "" "-117" "6511" "2061" "52834234" "54058110" "00006" "2021-08-23 16:49:09" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03947" "AAT8" "aneurysm, aortic, thoracic, familial, type 8 (AAT8)" "AD" "615436" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-08-30 17:02:14" "04193" "TAAD" "aneurysms, aortic, thoracic, dissections (TAAD)" "" "" "" "" "" "00006" "2015-02-14 21:35:57" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PRKG1" "03947" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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" "" "" "" "" "00163770" "" "" "" "1" "" "01233" "" "" "M" "" "" "" "0" "" "" "" "" "00163772" "" "" "" "1" "" "01233" "" "" "M" "" "" "" "0" "" "" "" "" "00163774" "" "" "" "1" "" "01233" "" "" "M" "" "" "" "0" "" "" "" "" "00163775" "" "" "" "1" "" "01233" "" "" "M" "" "" "" "0" "" "" "" "" "00290055" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290056" "" "" "" "205" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295606" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00304245" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00398101" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat39" "00398124" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat62" "00398188" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat133" "00398189" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat134" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00163770" "03947" "00163772" "03947" "00163774" "04193" "00163775" "04193" "00290055" "00198" "00290056" "00198" "00295606" "00198" "00304245" "00198" "00398101" "00198" "00398124" "00198" "00398188" "00198" "00398189" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 03947, 04193 ## Count = 11 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000128937" "03947" "00163770" "01233" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128938" "04193" "00163775" "01233" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128939" "04193" "00163774" "01233" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128940" "03947" "00163772" "01233" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223171" "00198" "00295606" "01807" "Unknown" "" "Aortic aneurysm (HP:0004942)" "" "" "" "" "" "" "" "" "" "" "" "0000291211" "00198" "00398101" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291234" "00198" "00398124" "00006" "Unknown" "36y" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291298" "00198" "00398188" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291299" "00198" "00398189" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{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" "" "" "0000164633" "00163770" "1" "01233" "01233" "2018-04-10 23:01:52" "" "" "SEQ-NG" "DNA" "" "" "0000164636" "00163772" "1" "01233" "01233" "2018-04-10 23:21:03" "" "" "SEQ-NG" "DNA" "" "CNV detection on NGS data, using XHMM bioinformatic tool" "0000164637" "00163774" "1" "01233" "01233" "2018-04-11 00:06:28" "" "" "SEQ-NG" "DNA" "" "" "0000164638" "00163775" "1" "01233" "01233" "2018-04-11 00:15:22" "" "" "SEQ-NG" "DNA" "" "" "0000291223" "00290055" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291224" "00290056" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296776" "00295606" "1" "01807" "01807" "2020-03-18 10:50:30" "" "" "SEQ" "DNA" "" "" "0000305374" "00304245" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000399344" "00398101" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399367" "00398124" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "MLPA" "DNA" "" "" "0000399431" "00398188" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399432" "00398189" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000399344" "PRKG1" "0000399367" "PRKG1" "0000399431" "PRKG1" "0000399432" "PRKG1" ## 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 = 126 "{{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}}" "0000004884" "0" "50" "10" "53458998" "53458998" "subst" "0.182464" "00037" "PRKG1_000009" "g.53458998A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51699238A>G" "" "VUS" "" "0000004885" "0" "50" "10" "53692824" "53692824" "subst" "0" "00037" "PRKG1_000005" "g.53692824A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51933064A>G" "" "VUS" "" "0000004886" "0" "50" "10" "53692910" "53692910" "subst" "0" "00037" "PRKG1_000007" "g.53692910A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51933150A>G" "" "VUS" "" "0000004887" "0" "50" "10" "53692969" "53692969" "subst" "0" "00037" "PRKG1_000003" "g.53692969C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51933209C>T" "" "VUS" "" "0000004888" "0" "50" "10" "53693075" "53693075" "subst" "0" "00037" "PRKG1_000001" "g.53693075A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51933315A>G" "" "VUS" "" "0000012841" "0" "50" "10" "53458998" "53458998" "subst" "0.182464" "00037" "PRKG1_000009" "g.53458998A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51699238A>G" "" "VUS" "" "0000012842" "3" "50" "10" "53692824" "53692824" "subst" "0" "00037" "PRKG1_000005" "g.53692824A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51933064A>G" "" "VUS" "" "0000012843" "3" "50" "10" "53692910" "53692910" "subst" "0" "00037" "PRKG1_000007" "g.53692910A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51933150A>G" "" "VUS" "" "0000012844" "3" "50" "10" "53692969" "53692969" "subst" "0" "00037" "PRKG1_000003" "g.53692969C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51933209C>T" "" "VUS" "" "0000012845" "3" "50" "10" "53693075" "53693075" "subst" "0" "00037" "PRKG1_000001" "g.53693075A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51933315A>G" "" "VUS" "" "0000250165" "0" "10" "10" "53822301" "53822301" "subst" "0.043004" "02329" "PRKG1_000017" "g.53822301A>G" "" "" "" "PRKG1(NM_001098512.3):c.800A>G (p.N267S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52062541A>G" "" "benign" "" "0000254324" "0" "30" "10" "52913007" "52913007" "subst" "3.25513E-5" "01943" "PRKG1_000010" "g.52913007A>G" "" "" "" "PRKG1(NM_006258.4):c.395A>G (p.D132G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51153247A>G" "" "likely benign" "" "0000254558" "0" "30" "10" "54042021" "54042021" "subst" "4.08523E-6" "01943" "PRKG1_000030" "g.54042021A>G" "" "" "" "PRKG1(NM_006258.4):c.1654A>G (p.I552V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52282261A>G" "" "likely benign" "" "0000256388" "0" "50" "10" "54011359" "54011359" "subst" "2.84757E-5" "01943" "PRKG1_000025" "g.54011359A>G" "" "" "" "PRKG1(NM_006258.4):c.1106A>G (p.N369S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52251599A>G" "" "VUS" "" "0000256673" "0" "50" "10" "54040611" "54040611" "subst" "0.000240545" "01943" "PRKG1_000028" "g.54040611A>T" "" "" "" "PRKG1(NM_001098512.3):c.1421A>T (p.Y474F), PRKG1(NM_006258.4):c.1466A>T (p.Y489F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52280851A>T" "" "VUS" "" "0000299098" "0" "30" "10" "54031259" "54031259" "subst" "0" "02329" "PRKG1_000026" "g.54031259C>G" "" "" "" "PRKG1(NM_001098512.3):c.1268+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52271499C>G" "" "likely benign" "" "0000299099" "0" "30" "10" "54053546" "54053546" "subst" "0.000393226" "02329" "PRKG1_000031" "g.54053546T>G" "" "" "" "PRKG1(NM_001098512.3):c.1918-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52293786T>G" "" "likely benign" "" "0000299100" "0" "10" "10" "52913020" "52913020" "subst" "0.0173203" "02329" "PRKG1_000011" "g.52913020G>A" "" "" "" "PRKG1(NM_001098512.3):c.363G>A (p.P121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51153260G>A" "" "benign" "" "0000299101" "0" "10" "10" "52913038" "52913038" "subst" "0.00389651" "02329" "PRKG1_000012" "g.52913038C>T" "" "" "" "PRKG1(NM_001098512.3):c.381C>T (p.D127=), PRKG1(NM_006258.4):c.426C>T (p.D142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51153278C>T" "" "benign" "" "0000299102" "0" "10" "10" "53227474" "53227474" "subst" "0.0406743" "02329" "PRKG1_000013" "g.53227474C>T" "" "" "" "PRKG1(NM_001098512.3):c.434-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51467714C>T" "" "benign" "" "0000299103" "0" "10" "10" "53564427" "53564427" "subst" "0.00351972" "02329" "PRKG1_000014" "g.53564427C>T" "" "" "" "PRKG1(NM_001098512.3):c.630C>T (p.T210=), PRKG1(NM_006258.4):c.675C>T (p.T225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51804667C>T" "" "benign" "" "0000299104" "0" "10" "10" "53814229" "53814229" "subst" "0.34166" "02329" "PRKG1_000015" "g.53814229G>T" "" "" "" "PRKG1(NM_001098512.3):c.718-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52054469G>T" "" "benign" "" "0000299105" "0" "10" "10" "53822344" "53822344" "subst" "0.00489889" "02329" "PRKG1_000018" "g.53822344T>C" "" "" "" "PRKG1(NM_001098512.3):c.843T>C (p.L281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52062584T>C" "" "benign" "" "0000299106" "0" "30" "10" "53921637" "53921637" "subst" "0.00053168" "02329" "PRKG1_000019" "g.53921637T>C" "" "" "" "PRKG1(NM_001098512.3):c.957-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52161877T>C" "" "likely benign" "" "0000299107" "0" "10" "10" "53921655" "53921655" "subst" "0.0197797" "02329" "PRKG1_000021" "g.53921655T>C" "" "" "" "PRKG1(NM_001098512.3):c.963T>C (p.F321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52161895T>C" "" "benign" "" "0000299108" "0" "30" "10" "53921673" "53921673" "subst" "0.000138545" "02329" "PRKG1_000022" "g.53921673G>A" "" "" "" "PRKG1(NM_001098512.3):c.981G>A (p.G327=), PRKG1(NM_006258.4):c.1026G>A (p.G342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52161913G>A" "" "likely benign" "" "0000306419" "0" "30" "10" "53921640" "53921640" "subst" "0.00022135" "01943" "PRKG1_000020" "g.53921640G>A" "" "" "" "PRKG1(NM_001098512.3):c.957-9G>A, PRKG1(NM_006258.4):c.1002-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52161880G>A" "" "likely benign" "" "0000306420" "0" "10" "10" "54011333" "54011333" "subst" "0.001364" "01943" "PRKG1_000024" "g.54011333T>C" "" "" "" "PRKG1(NM_001098512.3):c.1035T>C (p.Y345=), PRKG1(NM_006258.4):c.1080T>C (p.Y360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52251573T>C" "" "benign" "" "0000306421" "0" "30" "10" "54032176" "54032176" "subst" "8.1809E-6" "01943" "PRKG1_000027" "g.54032176C>A" "" "" "" "PRKG1(NM_001098512.3):c.1293C>A (p.S431R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52272416C>A" "" "likely benign" "" "0000306422" "0" "50" "10" "54041941" "54041941" "subst" "0" "01943" "PRKG1_000029" "g.54041941G>A" "" "" "" "PRKG1(NM_006258.4):c.1574G>A (p.G525E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52282181G>A" "" "VUS" "" "0000306423" "0" "30" "10" "54053612" "54053612" "subst" "2.03465E-5" "01943" "PRKG1_000032" "g.54053612C>T" "" "" "" "PRKG1(NM_006258.4):c.2013C>T (p.N671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52293852C>T" "" "likely benign" "" "0000306424" "0" "30" "10" "52913038" "52913038" "subst" "0.00389651" "01943" "PRKG1_000012" "g.52913038C>T" "" "" "" "PRKG1(NM_001098512.3):c.381C>T (p.D127=), PRKG1(NM_006258.4):c.426C>T (p.D142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51153278C>T" "" "likely benign" "" "0000306425" "0" "30" "10" "53564427" "53564427" "subst" "0.00351972" "01943" "PRKG1_000014" "g.53564427C>T" "" "" "" "PRKG1(NM_001098512.3):c.630C>T (p.T210=), PRKG1(NM_006258.4):c.675C>T (p.T225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51804667C>T" "" "likely benign" "" "0000306426" "0" "30" "10" "53814273" "53814273" "subst" "4.06782E-6" "01943" "PRKG1_000016" "g.53814273C>T" "" "" "" "PRKG1(NM_006258.4):c.792C>T (p.I264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52054513C>T" "" "likely benign" "" "0000368206" "0" "90" "10" "53227579" "53227579" "subst" "0" "01233" "PRKG1_000033" "g.53227579G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.51467819G>A" "" "pathogenic" "" "0000368209" "0" "70" "10" "53227482" "53227597" "del" "0" "01233" "PRKG1_000036" "g.(52913091_53227482)_(53227597_53564344)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000368210" "0" "50" "10" "52913061" "52913061" "subst" "2.04235E-5" "01233" "PRKG1_000034" "g.52913061A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.51153301A>C" "" "VUS" "" "0000368211" "0" "50" "10" "53921663" "53921663" "subst" "2.03716E-5" "01233" "PRKG1_000035" "g.53921663T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.52161903T>C" "" "VUS" "" "0000540006" "0" "50" "10" "52751177" "52751177" "subst" "0.000809607" "01943" "PRKG1_000037" "g.52751177G>A" "" "" "" "PRKG1(NM_001098512.3):c.39G>A (p.M13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50991417G>A" "" "VUS" "" "0000540007" "0" "30" "10" "52751177" "52751177" "subst" "0.000809607" "02329" "PRKG1_000037" "g.52751177G>A" "" "" "" "PRKG1(NM_001098512.3):c.39G>A (p.M13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50991417G>A" "" "likely benign" "" "0000540008" "0" "50" "10" "52751272" "52751272" "subst" "0" "01804" "PRKG1_000038" "g.52751272C>A" "" "" "" "PRKG1(NM_001098512.2):c.134C>A (p.(Ser45Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50991512C>A" "" "VUS" "" "0000540009" "0" "50" "10" "52913013" "52913013" "subst" "0" "02329" "PRKG1_000039" "g.52913013T>C" "" "" "" "PRKG1(NM_001098512.3):c.356T>C (p.M119T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51153253T>C" "" "VUS" "" "0000540010" "0" "50" "10" "52913061" "52913061" "subst" "2.04235E-5" "02329" "PRKG1_000034" "g.52913061A>C" "" "" "" "PRKG1(NM_001098512.3):c.404A>C (p.D135A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51153301A>C" "" "VUS" "" "0000540011" "0" "50" "10" "52913066" "52913066" "subst" "0" "02329" "PRKG1_000040" "g.52913066G>C" "" "" "" "PRKG1(NM_001098512.3):c.409G>C (p.G137R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51153306G>C" "" "VUS" "" "0000540012" "0" "50" "10" "53227524" "53227524" "subst" "0" "02329" "PRKG1_000041" "g.53227524A>T" "" "" "" "PRKG1(NM_001098512.3):c.475A>T (p.T159S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51467764A>T" "" "VUS" "" "0000540013" "0" "90" "10" "53227579" "53227579" "subst" "0" "02329" "PRKG1_000033" "g.53227579G>A" "" "" "" "PRKG1(NM_001098512.3):c.530G>A (p.R177Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51467819G>A" "" "pathogenic" "" "0000540014" "0" "50" "10" "53564378" "53564378" "subst" "0" "01943" "PRKG1_000042" "g.53564378G>A" "" "" "" "PRKG1(NM_001098512.3):c.581G>A (p.R194Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51804618G>A" "" "VUS" "" "0000540015" "0" "30" "10" "53667285" "53667285" "subst" "4.06884E-6" "01943" "PRKG1_000043" "g.53667285C>A" "" "" "" "PRKG1(NM_001098512.3):c.672C>A (p.S224R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51907525C>A" "" "likely benign" "" "0000540017" "0" "30" "10" "53822362" "53822362" "subst" "0.000618001" "02329" "PRKG1_000044" "g.53822362A>C" "" "" "" "PRKG1(NM_001098512.3):c.861A>C (p.G287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52062602A>C" "" "likely benign" "" "0000540018" "0" "50" "10" "53921663" "53921663" "subst" "2.03716E-5" "01943" "PRKG1_000035" "g.53921663T>C" "" "" "" "PRKG1(NM_001098512.3):c.971T>C (p.L324S), PRKG1(NM_006258.4):c.1016T>C (p.L339S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52161903T>C" "" "VUS" "" "0000540019" "0" "50" "10" "53921663" "53921663" "subst" "2.03716E-5" "02329" "PRKG1_000035" "g.53921663T>C" "" "" "" "PRKG1(NM_001098512.3):c.971T>C (p.L324S), PRKG1(NM_006258.4):c.1016T>C (p.L339S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52161903T>C" "" "VUS" "" "0000540020" "0" "30" "10" "53921718" "53921718" "subst" "0.000822853" "02326" "PRKG1_000045" "g.53921718A>G" "" "" "" "PRKG1(NM_001098512.3):c.1026A>G (p.K342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52161958A>G" "" "likely benign" "" "0000540021" "0" "30" "10" "53921718" "53921718" "subst" "0.000822853" "02329" "PRKG1_000045" "g.53921718A>G" "" "" "" "PRKG1(NM_001098512.3):c.1026A>G (p.K342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52161958A>G" "" "likely benign" "" "0000540022" "0" "10" "10" "53921742" "53921743" "ins" "0" "02329" "PRKG1_000046" "g.53921742_53921743insTGGCCTT" "" "" "" "PRKG1(NM_001098512.3):c.1031+19_1031+20insTGGCCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52161982_52161983insTGGCCTT" "" "benign" "" "0000540023" "0" "30" "10" "54011345" "54011345" "subst" "5.29187E-5" "01943" "PRKG1_000047" "g.54011345G>A" "" "" "" "PRKG1(NM_001098512.3):c.1047G>A (p.A349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52251585G>A" "" "likely benign" "" "0000540024" "0" "30" "10" "54031101" "54031101" "subst" "8.17775E-5" "02329" "PRKG1_000048" "g.54031101T>G" "" "" "" "PRKG1(NM_001098512.3):c.1129-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52271341T>G" "" "likely benign" "" "0000540025" "0" "50" "10" "54031126" "54031126" "subst" "0" "01943" "PRKG1_000049" "g.54031126A>G" "" "" "" "PRKG1(NM_001098512.3):c.1145A>G (p.E382G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52271366A>G" "" "VUS" "" "0000540026" "0" "30" "10" "54040611" "54040611" "subst" "0.000240545" "02329" "PRKG1_000028" "g.54040611A>T" "" "" "" "PRKG1(NM_001098512.3):c.1421A>T (p.Y474F), PRKG1(NM_006258.4):c.1466A>T (p.Y489F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52280851A>T" "" "likely benign" "" "0000540027" "0" "10" "10" "54040670" "54040670" "subst" "0.00187098" "02326" "PRKG1_000050" "g.54040670C>T" "" "" "" "PRKG1(NM_001098512.3):c.1480C>T (p.H494Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52280910C>T" "" "benign" "" "0000540028" "0" "30" "10" "54053546" "54053546" "subst" "0.000393226" "02326" "PRKG1_000031" "g.54053546T>G" "" "" "" "PRKG1(NM_001098512.3):c.1918-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52293786T>G" "" "likely benign" "" "0000540029" "0" "50" "10" "54053587" "54053587" "subst" "1.62833E-5" "02325" "PRKG1_000051" "g.54053587A>G" "" "" "" "PRKG1(NM_001098512.3):c.1943A>G (p.N648S), PRKG1(NM_006258.4):c.1988A>G (p.N663S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52293827A>G" "" "VUS" "" "0000540030" "0" "50" "10" "54053619" "54053619" "subst" "0" "02326" "PRKG1_000052" "g.54053619C>A" "" "" "" "PRKG1(NM_001098512.3):c.1975C>A (p.P659T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52293859C>A" "" "VUS" "" "0000612490" "0" "50" "10" "52913033" "52913033" "subst" "0" "02327" "PRKG1_000053" "g.52913033A>G" "" "" "" "PRKG1(NM_001098512.3):c.376A>G (p.K126E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51153273A>G" "" "VUS" "" "0000612491" "0" "50" "10" "53458192" "53458192" "subst" "6.51614E-5" "02327" "PRKG1_000054" "g.53458192C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51698432C>T" "" "VUS" "" "0000612492" "0" "30" "10" "53458597" "53458602" "del" "8.14571E-6" "02327" "PRKG1_000055" "g.53458597_53458602del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51698837_51698842del" "" "likely benign" "" "0000612493" "0" "30" "10" "53458628" "53458628" "subst" "0.000200136" "02327" "PRKG1_000056" "g.53458628G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51698868G>T" "" "likely benign" "" "0000612494" "0" "30" "10" "53822288" "53822288" "subst" "4.72496E-6" "02329" "PRKG1_000057" "g.53822288T>C" "" "" "" "PRKG1(NM_001098512.3):c.796-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52062528T>C" "" "likely benign" "" "0000612495" "0" "10" "10" "53822344" "53822344" "subst" "0.00489889" "02327" "PRKG1_000018" "g.53822344T>C" "" "" "" "PRKG1(NM_001098512.3):c.843T>C (p.L281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52062584T>C" "" "benign" "" "0000612496" "0" "50" "10" "54011355" "54011355" "subst" "8.13928E-6" "02327" "PRKG1_000058" "g.54011355G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52251595G>A" "" "VUS" "" "0000612497" "0" "30" "10" "54031254" "54031254" "del" "0" "02327" "PRKG1_000059" "g.54031254del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52271494del" "" "likely benign" "" "0000612498" "0" "50" "10" "54050016" "54050016" "subst" "3.25643E-5" "01943" "PRKG1_000060" "g.54050016G>A" "" "" "" "PRKG1(NM_001098512.3):c.1883G>A (p.R628K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52290256G>A" "" "VUS" "" "0000612499" "0" "30" "10" "54053567" "54053567" "subst" "8.58194E-5" "02327" "PRKG1_000061" "g.54053567A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52293807A>G" "" "likely benign" "" "0000647912" "1" "90" "10" "53227579" "53227579" "subst" "0" "03575" "PRKG1_000033" "g.53227579G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397515330}" "Germline" "" "rs397515330" "0" "" "" "g.51467819G>A" "" "pathogenic" "" "0000647913" "1" "10" "10" "53822301" "53822301" "subst" "0.043004" "03575" "PRKG1_000017" "g.53822301A>G" "205/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "205 heterozygous; {DB:CLININrs34997494}" "Germline" "" "rs34997494" "0" "" "" "g.52062541A>G" "" "benign" "" "0000653487" "0" "50" "10" "54011337" "54011337" "subst" "0" "01807" "PRKG1_000062" "g.54011337G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.52251577G>A" "" "VUS" "" "0000656493" "0" "30" "10" "52751170" "52751170" "subst" "0" "01943" "PRKG1_000063" "g.52751170T>C" "" "" "" "PRKG1(NM_001098512.3):c.32T>C (p.I11T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50991410T>C" "" "likely benign" "" "0000656494" "0" "50" "10" "52913033" "52913033" "subst" "0" "02329" "PRKG1_000053" "g.52913033A>G" "" "" "" "PRKG1(NM_001098512.3):c.376A>G (p.K126E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51153273A>G" "" "VUS" "" "0000656495" "0" "30" "10" "54011430" "54011430" "subst" "0" "02325" "PRKG1_000064" "g.54011430G>A" "" "" "" "PRKG1(NM_001098512.3):c.1128+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52251670G>A" "" "likely benign" "" "0000656496" "0" "30" "10" "54031226" "54031226" "subst" "5.30361E-5" "02329" "PRKG1_000065" "g.54031226G>A" "" "" "" "PRKG1(NM_001098512.3):c.1245G>A (p.G415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52271466G>A" "" "likely benign" "" "0000656497" "0" "30" "10" "54032083" "54032083" "subst" "0" "02329" "PRKG1_000066" "g.54032083C>T" "" "" "" "PRKG1(NM_001098512.3):c.1269-69C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52272323C>T" "" "likely benign" "" "0000656498" "0" "30" "10" "54053369" "54053369" "subst" "0" "02329" "PRKG1_000067" "g.54053369A>G" "" "" "" "PRKG1(NM_001098512.3):c.1918-193A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52293609A>G" "" "likely benign" "" "0000669062" "3" "10" "10" "53822301" "53822301" "subst" "0.043004" "03575" "PRKG1_000017" "g.53822301A>G" "7/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs34997494}" "Germline" "" "rs34997494" "0" "" "" "g.52062541A>G" "" "benign" "" "0000678846" "0" "50" "10" "53921663" "53921663" "subst" "2.03716E-5" "02326" "PRKG1_000035" "g.53921663T>C" "" "" "" "PRKG1(NM_001098512.3):c.971T>C (p.L324S), PRKG1(NM_006258.4):c.1016T>C (p.L339S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678847" "0" "50" "10" "54041935" "54041935" "subst" "0" "02326" "PRKG1_000068" "g.54041935A>G" "" "" "" "PRKG1(NM_001098512.3):c.1523A>G (p.K508R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690722" "0" "30" "10" "53814335" "53814335" "subst" "0.000854659" "02326" "PRKG1_000069" "g.53814335G>T" "" "" "" "PRKG1(NM_001098512.3):c.795+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690723" "0" "30" "10" "53921718" "53921718" "subst" "0.000822853" "01943" "PRKG1_000045" "g.53921718A>G" "" "" "" "PRKG1(NM_001098512.3):c.1026A>G (p.K342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722836" "0" "30" "10" "54032143" "54032143" "subst" "0" "02329" "PRKG1_000070" "g.54032143A>G" "" "" "" "PRKG1(NM_001098512.3):c.1269-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722837" "0" "30" "10" "54032569" "54032569" "subst" "0" "02329" "PRKG1_000071" "g.54032569A>C" "" "" "" "PRKG1(NM_001098512.3):c.1358+328A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722838" "0" "30" "10" "54048486" "54048486" "subst" "0.00024113" "02329" "PRKG1_000072" "g.54048486C>T" "" "" "" "PRKG1(NM_001098512.3):c.1665C>T (p.S555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722839" "0" "50" "10" "54049984" "54049984" "subst" "4.07747E-6" "01943" "PRKG1_000073" "g.54049984A>T" "" "" "" "PRKG1(NM_001098512.3):c.1851A>T (p.K617N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804446" "0" "30" "10" "53227526" "53227526" "subst" "0.000471372" "02326" "CSTF2T_000001" "g.53227526C>T" "" "" "" "PRKG1(NM_006258.4):c.522C>T (p.T174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804447" "0" "30" "10" "53921640" "53921640" "subst" "0.00022135" "02329" "PRKG1_000020" "g.53921640G>A" "" "" "" "PRKG1(NM_001098512.3):c.957-9G>A, PRKG1(NM_006258.4):c.1002-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804448" "0" "50" "10" "54053587" "54053587" "subst" "1.62833E-5" "01943" "PRKG1_000051" "g.54053587A>G" "" "" "" "PRKG1(NM_001098512.3):c.1943A>G (p.N648S), PRKG1(NM_006258.4):c.1988A>G (p.N663S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831705" "1" "90" "10" "53227579" "53227579" "subst" "0" "00006" "PRKG1_000033" "g.53227579G>A" "3/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.51467819G>A" "" "pathogenic" "" "0000831728" "0" "70" "10" "0" "0" "" "0" "00006" "CYP2C9_001038" "g.?" "2/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "del ex3" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000831792" "1" "50" "10" "52913061" "52913061" "subst" "2.04235E-5" "00006" "PRKG1_000034" "g.52913061A>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.51153301A>C" "" "VUS" "" "0000831793" "1" "50" "10" "53921663" "53921663" "subst" "2.03716E-5" "00006" "PRKG1_000035" "g.53921663T>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.52161903T>C" "" "VUS" "" "0000852495" "0" "30" "10" "52834547" "52834547" "subst" "0.000294498" "01943" "CSTF2T_000002" "g.52834547G>T" "" "" "" "PRKG1(NM_006258.4):c.197G>T (p.S66I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852496" "0" "10" "10" "52913038" "52913038" "subst" "0.00389651" "02326" "PRKG1_000012" "g.52913038C>T" "" "" "" "PRKG1(NM_001098512.3):c.381C>T (p.D127=), PRKG1(NM_006258.4):c.426C>T (p.D142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852497" "0" "30" "10" "54031235" "54031235" "subst" "0.000273478" "02329" "CSTF2T_000003" "g.54031235C>T" "" "" "" "PRKG1(NM_001098512.3):c.1254C>T (p.S418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889154" "0" "30" "10" "53921640" "53921640" "subst" "0.00022135" "02326" "PRKG1_000020" "g.53921640G>A" "" "" "" "PRKG1(NM_001098512.3):c.957-9G>A, PRKG1(NM_006258.4):c.1002-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889155" "0" "50" "10" "54011419" "54011419" "subst" "4.06755E-6" "02325" "CSTF2T_000004" "g.54011419T>C" "" "" "" "PRKG1(NM_001098512.3):c.1121T>C (p.V374A), PRKG1(NM_006258.4):c.1166T>C (p.V389A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889156" "0" "50" "10" "54040611" "54040611" "subst" "0.000240545" "02326" "PRKG1_000028" "g.54040611A>T" "" "" "" "PRKG1(NM_001098512.3):c.1421A>T (p.Y474F), PRKG1(NM_006258.4):c.1466A>T (p.Y489F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925160" "0" "30" "10" "54040611" "54040611" "subst" "0.000240545" "02325" "PRKG1_000028" "g.54040611A>T" "" "" "" "PRKG1(NM_001098512.3):c.1421A>T (p.Y474F), PRKG1(NM_006258.4):c.1466A>T (p.Y489F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925161" "0" "30" "10" "54053657" "54053657" "subst" "0" "02329" "CSTF2T_000005" "g.54053657C>T" "" "" "" "PRKG1(NM_001098512.3):c.2013C>T (p.F671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929680" "0" "30" "10" "53921579" "53921579" "subst" "0" "02329" "CSTF2T_000006" "g.53921579T>C" "" "" "" "PRKG1(NM_001098512.3):c.957-70T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929681" "0" "30" "10" "53921673" "53921673" "subst" "0.000138545" "02326" "PRKG1_000022" "g.53921673G>A" "" "" "" "PRKG1(NM_001098512.3):c.981G>A (p.G327=), PRKG1(NM_006258.4):c.1026G>A (p.G342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929682" "0" "30" "10" "54040794" "54040794" "subst" "0" "02329" "CSTF2T_000007" "g.54040794T>C" "" "" "" "PRKG1(NM_001098512.3):c.1500+104T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949402" "0" "30" "10" "52751225" "52751225" "subst" "4.25431E-6" "02329" "CSTF2T_000008" "g.52751225G>A" "" "" "" "PRKG1(NM_001098512.3):c.87G>A (p.K29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949403" "0" "30" "10" "53814173" "53814173" "subst" "0" "02329" "CSTF2T_000009" "g.53814173T>C" "" "" "" "PRKG1(NM_001098512.3):c.718-71T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949404" "0" "50" "10" "54011358" "54011358" "subst" "0" "02329" "CSTF2T_000010" "g.54011358A>C" "" "" "" "PRKG1(NM_001098512.3):c.1060A>C (p.N354H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965744" "0" "30" "10" "52751435" "52751435" "subst" "0.000206555" "02329" "CSTF2T_000011" "g.52751435C>G" "" "" "" "PRKG1(NM_001098512.3):c.266+31C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965745" "0" "30" "10" "53822268" "53822268" "subst" "1.49267E-5" "02329" "CSTF2T_000012" "g.53822268A>T" "" "" "" "PRKG1(NM_001098512.3):c.796-29A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965746" "0" "30" "10" "54032424" "54032424" "subst" "0" "02329" "CSTF2T_000013" "g.54032424C>A" "" "" "" "PRKG1(NM_001098512.3):c.1358+183C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979064" "0" "50" "10" "53227582" "53227582" "subst" "0" "01804" "CSTF2T_000014" "g.53227582C>T" "" "" "" "PRKG1(NM_006258.4):c.578C>T (p.(Thr193Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979065" "0" "30" "10" "54031304" "54031304" "subst" "0" "02329" "CSTF2T_000015" "g.54031304A>G" "" "" "" "PRKG1(NM_001098512.3):c.1268+55A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979066" "0" "50" "10" "54042028" "54042028" "subst" "0" "02329" "CSTF2T_000016" "g.54042028C>T" "" "" "" "PRKG1(NM_001098512.3):c.1616C>T (p.A539V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979067" "0" "30" "10" "54042144" "54042144" "subst" "0" "02329" "CSTF2T_000017" "g.54042144T>C" "" "" "" "PRKG1(NM_001098512.3):c.1664+68T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979068" "0" "30" "10" "54053391" "54053391" "subst" "0" "02329" "CSTF2T_000018" "g.54053391T>C" "" "" "" "PRKG1(NM_001098512.3):c.1918-171T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998321" "0" "30" "10" "52834380" "52834380" "subst" "0.00010184" "02326" "CSTF2T_000019" "g.52834380G>A" "" "" "" "PRKG1(NM_006258.4):c.30G>A (p.A10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998322" "0" "10" "10" "54011333" "54011333" "subst" "0.001364" "02329" "PRKG1_000024" "g.54011333T>C" "" "" "" "PRKG1(NM_001098512.3):c.1035T>C (p.Y345=), PRKG1(NM_006258.4):c.1080T>C (p.Y360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998323" "0" "50" "10" "54011419" "54011419" "subst" "4.06755E-6" "02329" "CSTF2T_000004" "g.54011419T>C" "" "" "" "PRKG1(NM_001098512.3):c.1121T>C (p.V374A), PRKG1(NM_006258.4):c.1166T>C (p.V389A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998324" "0" "50" "10" "54053587" "54053587" "subst" "1.62833E-5" "02329" "PRKG1_000051" "g.54053587A>G" "" "" "" "PRKG1(NM_001098512.3):c.1943A>G (p.N648S), PRKG1(NM_006258.4):c.1988A>G (p.N663S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014626" "0" "10" "10" "54040670" "54040670" "subst" "0.00187098" "02329" "PRKG1_000050" "g.54040670C>T" "" "" "" "PRKG1(NM_001098512.3):c.1480C>T (p.H494Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025746" "0" "50" "10" "54032176" "54032176" "subst" "8.1809E-6" "02329" "PRKG1_000027" "g.54032176C>A" "" "" "" "PRKG1(NM_001098512.3):c.1293C>A (p.S431R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037920" "0" "50" "10" "52912934" "52912934" "subst" "0" "02326" "CSTF2T_000020" "g.52912934C>T" "" "" "" "PRKG1(NM_006258.4):c.322C>T (p.L108F)" "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 PRKG1 ## Count = 126 "{{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}}" "0000004884" "00025634" "50" "593" "-105347" "593" "-105347" "c.593-105347A>G" "r.(=)" "p.(=)" "" "0000004885" "00025634" "50" "762" "25494" "762" "25494" "c.762+25494A>G" "r.(=)" "p.(=)" "" "0000004886" "00025634" "50" "762" "25580" "762" "25580" "c.762+25580A>G" "r.(=)" "p.(=)" "" "0000004887" "00025634" "50" "762" "25639" "762" "25639" "c.762+25639C>T" "r.(=)" "p.(=)" "" "0000004888" "00025634" "50" "762" "25745" "762" "25745" "c.762+25745A>G" "r.(=)" "p.(=)" "" "0000012841" "00025634" "50" "593" "-105347" "593" "-105347" "c.593-105347A>G" "r.(=)" "p.(=)" "" "0000012842" "00025634" "50" "762" "25494" "762" "25494" "c.762+25494A>G" "r.(=)" "p.(=)" "" "0000012843" "00025634" "50" "762" "25580" "762" "25580" "c.762+25580A>G" "r.(=)" "p.(=)" "" "0000012844" "00025634" "50" "762" "25639" "762" "25639" "c.762+25639C>T" "r.(=)" "p.(=)" "" "0000012845" "00025634" "50" "762" "25745" "762" "25745" "c.762+25745A>G" "r.(=)" "p.(=)" "" "0000250165" "00025634" "10" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asn282Ser)" "" "0000254324" "00025634" "30" "395" "0" "395" "0" "c.395A>G" "r.(?)" "p.(Asp132Gly)" "" "0000254558" "00025634" "30" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Ile552Val)" "" "0000256388" "00025634" "50" "1106" "0" "1106" "0" "c.1106A>G" "r.(?)" "p.(Asn369Ser)" "" "0000256673" "00025634" "50" "1466" "0" "1466" "0" "c.1466A>T" "r.(?)" "p.(Tyr489Phe)" "" "0000299098" "00025634" "30" "1313" "10" "1313" "10" "c.1313+10C>G" "r.(=)" "p.(=)" "" "0000299099" "00025634" "30" "1963" "-16" "1963" "-16" "c.1963-16T>G" "r.(=)" "p.(=)" "" "0000299100" "00025634" "10" "408" "0" "408" "0" "c.408G>A" "r.(?)" "p.(Pro136=)" "" "0000299101" "00025634" "10" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Asp142=)" "" "0000299102" "00025634" "10" "479" "-9" "479" "-9" "c.479-9C>T" "r.(=)" "p.(=)" "" "0000299103" "00025634" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Thr225=)" "" "0000299104" "00025634" "10" "763" "-15" "763" "-15" "c.763-15G>T" "r.(=)" "p.(=)" "" "0000299105" "00025634" "10" "888" "0" "888" "0" "c.888T>C" "r.(?)" "p.(Leu296=)" "" "0000299106" "00025634" "30" "1002" "-12" "1002" "-12" "c.1002-12T>C" "r.(=)" "p.(=)" "" "0000299107" "00025634" "10" "1008" "0" "1008" "0" "c.1008T>C" "r.(?)" "p.(Phe336=)" "" "0000299108" "00025634" "30" "1026" "0" "1026" "0" "c.1026G>A" "r.(?)" "p.(Gly342=)" "" "0000306419" "00025634" "30" "1002" "-9" "1002" "-9" "c.1002-9G>A" "r.(=)" "p.(=)" "" "0000306420" "00025634" "10" "1080" "0" "1080" "0" "c.1080T>C" "r.(?)" "p.(Tyr360=)" "" "0000306421" "00025634" "30" "1338" "0" "1338" "0" "c.1338C>A" "r.(?)" "p.(Ser446Arg)" "" "0000306422" "00025634" "50" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Gly525Glu)" "" "0000306423" "00025634" "30" "2013" "0" "2013" "0" "c.2013C>T" "r.(?)" "p.(Asn671=)" "" "0000306424" "00025634" "30" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Asp142=)" "" "0000306425" "00025634" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Thr225=)" "" "0000306426" "00025634" "30" "792" "0" "792" "0" "c.792C>T" "r.(?)" "p.(Ile264=)" "" "0000368206" "00025634" "90" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "" "0000368209" "00025634" "70" "479" "-1" "592" "1" "c.(478+1_479-1)_(592+1_593-1)del" "r.?" "p.(Asp160_Thr198delinsAla)" "" "0000368210" "00025634" "50" "449" "0" "449" "0" "c.449A>C" "r.(?)" "p.(Asp150Ala)" "" "0000368211" "00025634" "50" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Ser)" "" "0000540006" "00025634" "50" "-83174" "0" "-83174" "0" "c.-83174G>A" "r.(?)" "p.(=)" "_1" "0000540007" "00025634" "30" "-83174" "0" "-83174" "0" "c.-83174G>A" "r.(?)" "p.(=)" "_1" "0000540008" "00025634" "50" "-83079" "0" "-83079" "0" "c.-83079C>A" "r.(?)" "p.(=)" "_1" "0000540009" "00025634" "50" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Met134Thr)" "" "0000540010" "00025634" "50" "449" "0" "449" "0" "c.449A>C" "r.(?)" "p.(Asp150Ala)" "" "0000540011" "00025634" "50" "454" "0" "454" "0" "c.454G>C" "r.(?)" "p.(Gly152Arg)" "" "0000540012" "00025634" "50" "520" "0" "520" "0" "c.520A>T" "r.(?)" "p.(Thr174Ser)" "" "0000540013" "00025634" "90" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "" "0000540014" "00025634" "50" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209Gln)" "" "0000540015" "00025634" "30" "717" "0" "717" "0" "c.717C>A" "r.(?)" "p.(Ser239Arg)" "" "0000540017" "00025634" "30" "906" "0" "906" "0" "c.906A>C" "r.(?)" "p.(Gly302=)" "" "0000540018" "00025634" "50" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Ser)" "" "0000540019" "00025634" "50" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Ser)" "" "0000540020" "00025634" "30" "1071" "0" "1071" "0" "c.1071A>G" "r.(?)" "p.(Lys357=)" "" "0000540021" "00025634" "30" "1071" "0" "1071" "0" "c.1071A>G" "r.(?)" "p.(Lys357=)" "" "0000540022" "00025634" "10" "1076" "19" "1076" "20" "c.1076+19_1076+20insTGGCCTT" "r.(=)" "p.(=)" "" "0000540023" "00025634" "30" "1092" "0" "1092" "0" "c.1092G>A" "r.(?)" "p.(Ala364=)" "" "0000540024" "00025634" "30" "1174" "-9" "1174" "-9" "c.1174-9T>G" "r.(=)" "p.(=)" "" "0000540025" "00025634" "50" "1190" "0" "1190" "0" "c.1190A>G" "r.(?)" "p.(Glu397Gly)" "" "0000540026" "00025634" "30" "1466" "0" "1466" "0" "c.1466A>T" "r.(?)" "p.(Tyr489Phe)" "" "0000540027" "00025634" "10" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(His509Tyr)" "" "0000540028" "00025634" "30" "1963" "-16" "1963" "-16" "c.1963-16T>G" "r.(=)" "p.(=)" "" "0000540029" "00025634" "50" "1988" "0" "1988" "0" "c.1988A>G" "r.(?)" "p.(Asn663Ser)" "" "0000540030" "00025634" "50" "2020" "0" "2020" "0" "c.2020C>A" "r.(?)" "p.(Pro674Thr)" "" "0000612490" "00025634" "50" "421" "0" "421" "0" "c.421A>G" "r.(?)" "p.(Lys141Glu)" "" "0000612491" "00025634" "50" "593" "-106153" "593" "-106153" "c.593-106153C>T" "r.(=)" "p.(=)" "" "0000612492" "00025634" "30" "593" "-105748" "593" "-105743" "c.593-105748_593-105743del" "r.(=)" "p.(=)" "" "0000612493" "00025634" "30" "593" "-105717" "593" "-105717" "c.593-105717G>T" "r.(=)" "p.(=)" "" "0000612494" "00025634" "30" "841" "-9" "841" "-9" "c.841-9T>C" "r.(=)" "p.(=)" "" "0000612495" "00025634" "10" "888" "0" "888" "0" "c.888T>C" "r.(?)" "p.(Leu296=)" "" "0000612496" "00025634" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Ala368Thr)" "" "0000612497" "00025634" "30" "1313" "5" "1313" "5" "c.1313+5del" "r.spl?" "p.?" "" "0000612498" "00025634" "50" "1928" "0" "1928" "0" "c.1928G>A" "r.(?)" "p.(Arg643Lys)" "" "0000612499" "00025634" "30" "1968" "0" "1968" "0" "c.1968A>G" "r.(?)" "p.(Ala656=)" "" "0000647912" "00025634" "90" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "" "0000647913" "00025634" "10" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asn282Ser)" "" "0000653487" "00025634" "50" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Ala362Thr)" "" "0000656493" "00025634" "30" "-83181" "0" "-83181" "0" "c.-83181T>C" "r.(?)" "p.(=)" "_1" "0000656494" "00025634" "50" "421" "0" "421" "0" "c.421A>G" "r.(?)" "p.(Lys141Glu)" "" "0000656495" "00025634" "30" "1173" "4" "1173" "4" "c.1173+4G>A" "r.spl?" "p.?" "" "0000656496" "00025634" "30" "1290" "0" "1290" "0" "c.1290G>A" "r.(?)" "p.(Gly430=)" "" "0000656497" "00025634" "30" "1314" "-69" "1314" "-69" "c.1314-69C>T" "r.(=)" "p.(=)" "" "0000656498" "00025634" "30" "1963" "-193" "1963" "-193" "c.1963-193A>G" "r.(=)" "p.(=)" "" "0000669062" "00025634" "10" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asn282Ser)" "" "0000678846" "00025634" "50" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Ser)" "" "0000678847" "00025634" "50" "1568" "0" "1568" "0" "c.1568A>G" "r.(?)" "p.(Lys523Arg)" "" "0000690722" "00025634" "30" "840" "14" "840" "14" "c.840+14G>T" "r.(=)" "p.(=)" "" "0000690723" "00025634" "30" "1071" "0" "1071" "0" "c.1071A>G" "r.(?)" "p.(Lys357=)" "" "0000722836" "00025634" "30" "1314" "-9" "1314" "-9" "c.1314-9A>G" "r.(=)" "p.(=)" "" "0000722837" "00025634" "30" "1403" "328" "1403" "328" "c.1403+328A>C" "r.(=)" "p.(=)" "" "0000722838" "00025634" "30" "1710" "0" "1710" "0" "c.1710C>T" "r.(?)" "p.(Ser570=)" "" "0000722839" "00025634" "50" "1896" "0" "1896" "0" "c.1896A>T" "r.(?)" "p.(Lys632Asn)" "" "0000804446" "00025634" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Thr174=)" "" "0000804447" "00025634" "30" "1002" "-9" "1002" "-9" "c.1002-9G>A" "r.(=)" "p.(=)" "" "0000804448" "00025634" "50" "1988" "0" "1988" "0" "c.1988A>G" "r.(?)" "p.(Asn663Ser)" "" "0000831705" "00025634" "90" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Arg177Gln)" "" "0000831728" "00025634" "70" "434" "-1" "547" "1" "c.(433+1_434-1)_(547+1_548-1)del" "r.(434_547del)" "p.(Asp145_Thr183delinsAla)" "" "0000831792" "00025634" "50" "404" "0" "404" "0" "c.404A>C" "r.(?)" "p.(Asp135Ala)" "" "0000831793" "00025634" "50" "971" "0" "971" "0" "c.971T>C" "r.(?)" "p.(Leu324Ser)" "" "0000852495" "00025634" "30" "197" "0" "197" "0" "c.197G>T" "r.(?)" "p.(Ser66Ile)" "" "0000852496" "00025634" "10" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Asp142=)" "" "0000852497" "00025634" "30" "1299" "0" "1299" "0" "c.1299C>T" "r.(?)" "p.(Ser433=)" "" "0000889154" "00025634" "30" "1002" "-9" "1002" "-9" "c.1002-9G>A" "r.(=)" "p.(=)" "" "0000889155" "00025634" "50" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Val389Ala)" "" "0000889156" "00025634" "50" "1466" "0" "1466" "0" "c.1466A>T" "r.(?)" "p.(Tyr489Phe)" "" "0000925160" "00025634" "30" "1466" "0" "1466" "0" "c.1466A>T" "r.(?)" "p.(Tyr489Phe)" "" "0000925161" "00025634" "30" "2058" "0" "2058" "0" "c.2058C>T" "r.(?)" "p.(Phe686=)" "" "0000929680" "00025634" "30" "1002" "-70" "1002" "-70" "c.1002-70T>C" "r.(=)" "p.(=)" "" "0000929681" "00025634" "30" "1026" "0" "1026" "0" "c.1026G>A" "r.(?)" "p.(Gly342=)" "" "0000929682" "00025634" "30" "1545" "104" "1545" "104" "c.1545+104T>C" "r.(=)" "p.(=)" "" "0000949402" "00025634" "30" "-83126" "0" "-83126" "0" "c.-83126G>A" "r.(?)" "p.(=)" "" "0000949403" "00025634" "30" "763" "-71" "763" "-71" "c.763-71T>C" "r.(=)" "p.(=)" "" "0000949404" "00025634" "50" "1105" "0" "1105" "0" "c.1105A>C" "r.(?)" "p.(Asn369His)" "" "0000965744" "00025634" "30" "-82916" "0" "-82916" "0" "c.-82916C>G" "r.(?)" "p.(=)" "" "0000965745" "00025634" "30" "841" "-29" "841" "-29" "c.841-29A>T" "r.(=)" "p.(=)" "" "0000965746" "00025634" "30" "1403" "183" "1403" "183" "c.1403+183C>A" "r.(=)" "p.(=)" "" "0000979064" "00025634" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Thr193Ile)" "" "0000979065" "00025634" "30" "1313" "55" "1313" "55" "c.1313+55A>G" "r.(=)" "p.(=)" "" "0000979066" "00025634" "50" "1661" "0" "1661" "0" "c.1661C>T" "r.(?)" "p.(Ala554Val)" "" "0000979067" "00025634" "30" "1709" "68" "1709" "68" "c.1709+68T>C" "r.(=)" "p.(=)" "" "0000979068" "00025634" "30" "1963" "-171" "1963" "-171" "c.1963-171T>C" "r.(=)" "p.(=)" "" "0000998321" "00025634" "30" "30" "0" "30" "0" "c.30G>A" "r.(?)" "p.(=)" "" "0000998322" "00025634" "10" "1080" "0" "1080" "0" "c.1080T>C" "r.(?)" "p.(Tyr360=)" "" "0000998323" "00025634" "50" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Val389Ala)" "" "0000998324" "00025634" "50" "1988" "0" "1988" "0" "c.1988A>G" "r.(?)" "p.(Asn663Ser)" "" "0001014626" "00025634" "10" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(His509Tyr)" "" "0001025746" "00025634" "50" "1338" "0" "1338" "0" "c.1338C>A" "r.(?)" "p.(Ser446Arg)" "" "0001037920" "00025634" "50" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Leu108Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004884" "0000000209" "0000004885" "0000000209" "0000004886" "0000000209" "0000004887" "0000000209" "0000004888" "0000000210" "0000012841" "0000000210" "0000012842" "0000000210" "0000012843" "0000000210" "0000012844" "0000000210" "0000012845" "0000164633" "0000368206" "0000164636" "0000368209" "0000164637" "0000368210" "0000164638" "0000368211" "0000291223" "0000647912" "0000291224" "0000647913" "0000296776" "0000653487" "0000305374" "0000669062" "0000399344" "0000831705" "0000399367" "0000831728" "0000399431" "0000831792" "0000399432" "0000831793"