### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPSG1) # 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}}" "TPSG1" "tryptase gamma 1" "16" "p13.3" "unknown" "NC_000016.9" "UD_132438253117" "" "https://www.LOVD.nl/TPSG1" "" "1" "14134" "25823" "609341" "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/TPSG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-21 10:39:13" "00000" "2026-01-20 18:57:21" ## 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}}" "00021714" "TPSG1" "tryptase gamma 1" "001" "NM_012467.3" "" "NP_036599.3" "" "" "" "-2" "1103" "966" "1275254" "1271651" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00165002" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00165035" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00165036" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00334966" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "" "" "China" "" "0" "" "" "" "H33" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00165002" "00091" "00165035" "00091" "00165036" "00091" "00334966" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198 ## Count = 1 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000252713" "00198" "00334966" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165872" "00165002" "1" "02509" "02509" "2018-06-20 15:29:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000165905" "00165035" "1" "02509" "02509" "2018-06-20 17:33:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000165906" "00165036" "1" "02509" "02509" "2018-06-20 17:35:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000336197" "00334966" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000336197" "GRM6" "0000336197" "TPSG1" ## 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 = 353 "{{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}}" "0000248678" "0" "10" "16" "1261219" "1261219" "subst" "0.651708" "02325" "CACNA1H_000041" "g.1261219A>G" "" "" "" "CACNA1H(NM_021098.3):c.4275A>G (p.S1425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211219A>G" "" "benign" "" "0000248679" "0" "10" "16" "1261222" "1261222" "subst" "0.651845" "02325" "CACNA1H_000042" "g.1261222A>G" "" "" "" "CACNA1H(NM_021098.3):c.4278A>G (p.S1426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211222A>G" "" "benign" "" "0000251040" "0" "10" "16" "1252259" "1252259" "subst" "0.417964" "02326" "CACNA1H_000007" "g.1252259A>G" "" "" "" "CACNA1H(NM_021098.3):c.1809A>G (p.R603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202259A>G" "" "benign" "" "0000251903" "0" "30" "16" "1254361" "1254361" "subst" "0.00358092" "02326" "CACNA1H_000080" "g.1254361A>T" "" "" "" "CACNA1H(NM_001005407.1):c.2354A>T (p.(Lys785Met)), CACNA1H(NM_021098.3):c.2354A>T (p.K785M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204361A>T" "" "likely benign" "" "0000252275" "0" "30" "16" "1250090" "1250090" "subst" "0" "02326" "CACNA1H_000136" "g.1250090A>G" "" "" "" "CACNA1H(NM_021098.3):c.804-166A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200090A>G" "" "likely benign" "" "0000252276" "0" "30" "16" "1260364" "1260364" "subst" "0.134213" "02326" "CACNA1H_000138" "g.1260364A>C" "" "" "" "CACNA1H(NM_001005407.1):c.3846-6A>C (p.(=)), CACNA1H(NM_021098.3):c.3846-6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210364A>C" "" "likely benign" "" "0000266440" "0" "30" "16" "1254236" "1254236" "subst" "0.000537829" "02325" "CACNA1H_000077" "g.1254236G>A" "" "" "" "CACNA1H(NM_021098.3):c.2229G>A (p.T743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204236G>A" "" "likely benign" "" "0000266441" "0" "10" "16" "1204007" "1204007" "subst" "0.00976994" "02325" "CACNA1H_000053" "g.1204007C>G" "" "" "" "CACNA1H(NM_021098.3):c.270C>G (p.R90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1154007C>G" "" "benign" "" "0000266442" "0" "30" "16" "1259257" "1259257" "subst" "0.000443031" "02325" "CACNA1H_000097" "g.1259257G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3589G>A (p.(Glu1197Lys)), CACNA1H(NM_021098.2):c.3589G>A (p.E1197K), CACNA1H(NM_021098.3):c.3589G>A (p.E1197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209257G>A" "" "likely benign" "" "0000266443" "0" "10" "16" "1260021" "1260021" "subst" "0.866248" "02325" "CACNA1H_000021" "g.1260021G>T" "" "" "" "CACNA1H(NM_021098.3):c.3745-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210021G>T" "" "benign" "" "0000266444" "0" "10" "16" "1260481" "1260481" "subst" "0.859784" "02325" "CACNA1H_000022" "g.1260481T>C" "" "" "" "CACNA1H(NM_021098.3):c.3957T>C (p.D1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210481T>C" "" "benign" "" "0000266445" "0" "10" "16" "1260767" "1260767" "subst" "0.550881" "02325" "CACNA1H_000025" "g.1260767G>A" "" "" "" "CACNA1H(NM_021098.3):c.4039-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210767G>A" "" "benign" "" "0000266446" "0" "10" "16" "1261282" "1261282" "subst" "0.859814" "02325" "CACNA1H_000043" "g.1261282T>C" "" "" "" "CACNA1H(NM_021098.3):c.4338T>C (p.I1446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211282T>C" "" "benign" "" "0000266447" "0" "10" "16" "1245509" "1245509" "subst" "0.00493654" "02325" "CACNA1H_000058" "g.1245509G>C" "" "" "" "CACNA1H(NM_001005407.1):c.489G>C (p.(Gln163His)), CACNA1H(NM_021098.3):c.489G>C (p.Q163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195509G>C" "" "benign" "" "0000266448" "0" "10" "16" "1268257" "1268257" "subst" "0.00572238" "02325" "CACNA1H_000124" "g.1268257C>T" "" "" "" "CACNA1H(NM_021098.2):c.5493C>T (p.Y1831=), CACNA1H(NM_021098.3):c.5493C>T (p.Y1831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218257C>T" "" "benign" "" "0000266449" "0" "10" "16" "1268494" "1268494" "subst" "0.652983" "02325" "CACNA1H_000032" "g.1268494C>T" "" "" "" "CACNA1H(NM_021098.3):c.5730C>T (p.D1910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218494C>T" "" "benign" "" "0000266450" "0" "10" "16" "1269029" "1269029" "subst" "0.651346" "02325" "CACNA1H_000034" "g.1269029T>C" "" "" "" "CACNA1H(NM_021098.3):c.5947T>C (p.L1983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219029T>C" "" "benign" "" "0000266451" "0" "30" "16" "1269147" "1269147" "del" "0" "02325" "CACNA1H_000036" "g.1269147del" "" "" "" "CACNA1H(NM_021098.3):c.6048+17delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219147del" "" "likely benign" "" "0000266452" "0" "10" "16" "1270162" "1270162" "subst" "0.656134" "02325" "CACNA1H_000027" "g.1270162G>A" "" "" "" "CACNA1H(NM_021098.3):c.6230G>A (p.R2077H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220162G>A" "" "benign" "" "0000266453" "0" "10" "16" "1270349" "1270349" "subst" "0.857613" "02325" "CACNA1H_000028" "g.1270349T>C" "" "" "" "CACNA1H(NM_021098.3):c.6417T>C (p.D2139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220349T>C" "" "benign" "" "0000269576" "0" "30" "16" "1250520" "1250520" "subst" "6.952E-5" "02326" "CACNA1H_000066" "g.1250520C>T" "" "" "" "CACNA1H(NM_021098.3):c.1068C>T (p.N356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200520C>T" "" "likely benign" "" "0000269577" "0" "10" "16" "1250708" "1250708" "subst" "0.00875712" "02326" "CACNA1H_000067" "g.1250708C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1120-8C>T (p.(=)), CACNA1H(NM_021098.3):c.1120-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200708C>T" "" "benign" "" "0000269578" "0" "30" "16" "1250831" "1250831" "subst" "0.0152279" "02326" "CACNA1H_000068" "g.1250831G>A" "" "" "" "CACNA1H(NM_021098.3):c.1212+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200831G>A" "" "likely benign" "" "0000269579" "0" "30" "16" "1251760" "1251760" "subst" "0.000388812" "02326" "CACNA1H_000069" "g.1251760G>A" "" "" "" "CACNA1H(NM_021098.3):c.1310G>A (p.R437Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1201760G>A" "" "likely benign" "" "0000269580" "0" "30" "16" "1252114" "1252114" "subst" "0.0109907" "02326" "CACNA1H_000071" "g.1252114C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1664C>T (p.(Ala555Val)), CACNA1H(NM_021098.3):c.1664C>T (p.A555V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202114C>T" "" "likely benign" "" "0000269581" "0" "10" "16" "1252118" "1252118" "subst" "0.114244" "02326" "CACNA1H_000006" "g.1252118C>T" "" "" "" "CACNA1H(NM_021098.3):c.1668C>T (p.P556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202118C>T" "" "benign" "" "0000269582" "0" "30" "16" "1252274" "1252274" "subst" "0.00174436" "02326" "CACNA1H_000072" "g.1252274G>A" "" "" "" "CACNA1H(NM_021098.2):c.1824G>A (p.L608=), CACNA1H(NM_021098.3):c.1824G>A (p.L608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202274G>A" "" "likely benign" "" "0000269583" "0" "50" "16" "1252303" "1252303" "subst" "0.000534177" "02326" "CACNA1H_000073" "g.1252303C>T" "" "" "" "CACNA1H(NM_021098.2):c.1853C>T (p.(Pro618Leu)), CACNA1H(NM_021098.3):c.1853C>T (p.P618L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202303C>T" "" "VUS" "" "0000269584" "0" "10" "16" "1252416" "1252416" "subst" "0.00181691" "02326" "CACNA1H_000074" "g.1252416C>T" "" "" "" "CACNA1H(NM_021098.3):c.1966C>T (p.P656S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202416C>T" "" "benign" "" "0000269585" "0" "30" "16" "1252517" "1252517" "subst" "0" "02326" "CACNA1H_000075" "g.1252517G>T" "" "" "" "CACNA1H(NM_021098.3):c.2002+65G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202517G>T" "" "likely benign" "" "0000269586" "0" "30" "16" "1254064" "1254064" "subst" "0.00101162" "02326" "CACNA1H_000076" "g.1254064C>T" "" "" "" "CACNA1H(NM_001005407.1):c.2057C>T (p.(Pro686Leu)), CACNA1H(NM_021098.2):c.2057C>T (p.P686L), CACNA1H(NM_021098.3):c.2057C>T (p.P686L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204064C>T" "" "likely benign" "" "0000269587" "0" "30" "16" "1254262" "1254262" "subst" "6.03677E-5" "02326" "CACNA1H_000078" "g.1254262C>T" "" "" "" "CACNA1H(NM_021098.3):c.2255C>T (p.P752L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204262C>T" "" "likely benign" "" "0000269588" "0" "30" "16" "1254272" "1254272" "subst" "0.00498996" "02326" "CACNA1H_000079" "g.1254272C>T" "" "" "" "CACNA1H(NM_021098.3):c.2265C>T (p.G755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204272C>T" "" "likely benign" "" "0000269589" "0" "10" "16" "1255083" "1255083" "subst" "0.0472057" "02326" "CACNA1H_000081" "g.1255083C>T" "" "" "" "CACNA1H(NM_021098.3):c.2452-31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1205083C>T" "" "benign" "" "0000269590" "0" "30" "16" "1255202" "1255202" "subst" "0.000195227" "02326" "CACNA1H_000082" "g.1255202G>T" "" "" "" "CACNA1H(NM_021098.3):c.2540G>T (p.C847F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1205202G>T" "" "likely benign" "" "0000269591" "0" "30" "16" "1255374" "1255374" "subst" "0" "02326" "CACNA1H_000083" "g.1255374G>T" "" "" "" "CACNA1H(NM_021098.3):c.2603+109G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1205374G>T" "" "likely benign" "" "0000269592" "0" "10" "16" "1255277" "1255277" "subst" "0.120321" "02326" "CACNA1H_000014" "g.1255277C>T" "" "" "" "CACNA1H(NM_021098.3):c.2603+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1205277C>T" "" "benign" "" "0000269593" "0" "30" "16" "1256016" "1256016" "subst" "0" "02326" "CACNA1H_000084" "g.1256016C>A" "" "" "" "CACNA1H(NM_021098.3):c.2604-88C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1206016C>A" "" "likely benign" "" "0000269594" "0" "30" "16" "1256259" "1256259" "subst" "0.00219023" "02326" "CACNA1H_000085" "g.1256259C>T" "" "" "" "CACNA1H(NM_021098.3):c.2759C>T (p.T920M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1206259C>T" "" "likely benign" "" "0000269595" "0" "30" "16" "1256297" "1256297" "subst" "2.63165E-5" "02326" "CACNA1H_000086" "g.1256297C>A" "" "" "" "CACNA1H(NM_021098.3):c.2789+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1206297C>A" "" "likely benign" "" "0000269596" "0" "10" "16" "1257092" "1257092" "subst" "0.00476951" "02326" "CACNA1H_000087" "g.1257092C>T" "" "" "" "CACNA1H(NM_021098.3):c.2881C>T (p.L961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1207092C>T" "" "benign" "" "0000269597" "0" "10" "16" "1257334" "1257334" "subst" "0.00352494" "02326" "CACNA1H_000017" "g.1257334C>T" "" "" "" "CACNA1H(NM_021098.3):c.2967C>T (p.S989=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1207334C>T" "" "benign" "" "0000269598" "0" "30" "16" "1204056" "1204076" "del" "0" "02326" "CACNA1H_000054" "g.1204056_1204076del" "" "" "" "CACNA1H(NM_021098.3):c.299+20_299+40delGGGGGCGGGGGGCGGGGGGCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1154056_1154076del" "" "likely benign" "" "0000269599" "0" "30" "16" "1258002" "1258002" "subst" "0.000101119" "02326" "CACNA1H_000088" "g.1258002C>G" "" "" "" "CACNA1H(NM_021098.3):c.3155-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208002C>G" "" "likely benign" "" "0000269600" "0" "30" "16" "1258033" "1258033" "subst" "0.00727032" "02326" "CACNA1H_000089" "g.1258033G>T" "" "" "" "CACNA1H(NM_001005407.1):c.3175G>T (p.(Ala1059Ser)), CACNA1H(NM_021098.3):c.3175G>T (p.A1059S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208033G>T" "" "likely benign" "" "0000269601" "0" "30" "16" "1258189" "1258189" "subst" "0.0013258" "02326" "CACNA1H_000090" "g.1258189G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3331G>A (p.(Gly1111Arg)), CACNA1H(NM_021098.3):c.3331G>A (p.G1111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208189G>A" "" "likely benign" "" "0000269602" "0" "30" "16" "1258920" "1258920" "subst" "0" "02326" "CACNA1H_000092" "g.1258920G>T" "" "" "" "CACNA1H(NM_021098.3):c.3364-112G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208920G>T" "" "likely benign" "" "0000269603" "0" "30" "16" "1258980" "1258980" "subst" "0" "02326" "CACNA1H_000093" "g.1258980G>A" "" "" "" "CACNA1H(NM_021098.3):c.3364-52G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208980G>A" "" "likely benign" "" "0000269604" "0" "30" "16" "1259042" "1259042" "subst" "0" "02326" "CACNA1H_000094" "g.1259042G>A" "" "" "" "CACNA1H(NM_021098.3):c.3374G>A (p.R1125Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209042G>A" "" "likely benign" "" "0000269605" "0" "30" "16" "1259337" "1259337" "subst" "0.000965285" "02326" "CACNA1H_000098" "g.1259337C>T" "" "" "" "CACNA1H(NM_021098.3):c.3669C>T (p.A1223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209337C>T" "" "likely benign" "" "0000269606" "0" "30" "16" "1259406" "1259406" "subst" "0.011522" "02326" "CACNA1H_000099" "g.1259406G>A" "" "" "" "CACNA1H(NM_021098.3):c.3738G>A (p.S1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209406G>A" "" "likely benign" "" "0000269607" "0" "30" "16" "1259500" "1259500" "subst" "0" "02326" "CACNA1H_000100" "g.1259500G>C" "" "" "" "CACNA1H(NM_021098.3):c.3744+88G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209500G>C" "" "likely benign" "" "0000269608" "0" "30" "16" "1260360" "1260360" "subst" "0.231528" "02326" "CACNA1H_000102" "g.1260360G>C" "" "" "" "CACNA1H(NM_021098.3):c.3846-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210360G>C" "" "likely benign" "" "0000269609" "0" "30" "16" "1245057" "1245057" "subst" "0.000248661" "02326" "CACNA1H_000055" "g.1245057G>A" "" "" "" "CACNA1H(NM_021098.3):c.385G>A (p.G129S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195057G>A" "" "likely benign" "" "0000269610" "0" "10" "16" "1245062" "1245062" "subst" "0.00918654" "02326" "CACNA1H_000056" "g.1245062C>T" "" "" "" "CACNA1H(NM_021098.3):c.390C>T (p.S130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195062C>T" "" "benign" "" "0000269611" "0" "30" "16" "1260449" "1260449" "subst" "0.000485861" "02326" "CACNA1H_000103" "g.1260449G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3925G>A (p.(Val1309Ile)), CACNA1H(NM_021098.3):c.3925G>A (p.V1309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210449G>A" "" "likely benign" "" "0000269612" "0" "10" "16" "1260481" "1260481" "subst" "0.859784" "02326" "CACNA1H_000022" "g.1260481T>C" "" "" "" "CACNA1H(NM_021098.3):c.3957T>C (p.D1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210481T>C" "" "benign" "" "0000269613" "0" "30" "16" "1260783" "1260783" "subst" "0.00350518" "02326" "CACNA1H_000105" "g.1260783G>A" "" "" "" "CACNA1H(NM_021098.3):c.4039-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210783G>A" "" "likely benign" "" "0000269614" "0" "30" "16" "1245361" "1245361" "subst" "0" "02326" "CACNA1H_000057" "g.1245361C>T" "" "" "" "CACNA1H(NM_021098.3):c.412-71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195361C>T" "" "likely benign" "" "0000269615" "0" "30" "16" "1261063" "1261063" "subst" "0" "02326" "CACNA1H_000106" "g.1261063C>T" "" "" "" "CACNA1H(NM_021098.3):c.4223+92C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211063C>T" "" "likely benign" "" "0000269616" "0" "10" "16" "1261110" "1261110" "subst" "0" "02326" "CACNA1H_000107" "g.1261110C>T" "" "" "" "CACNA1H(NM_021098.3):c.4224-58C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211110C>T" "" "benign" "" "0000269617" "0" "30" "16" "1261162" "1261162" "subst" "0.00153927" "02326" "CACNA1H_000108" "g.1261162C>T" "" "" "" "CACNA1H(NM_001005407.1):c.4224-6C>T (p.(=)), CACNA1H(NM_021098.3):c.4224-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211162C>T" "" "likely benign" "" "0000269618" "0" "30" "16" "1261300" "1261300" "subst" "2.44218E-5" "02326" "CACNA1H_000109" "g.1261300T>C" "" "" "" "CACNA1H(NM_021098.2):c.4350+6T>C (p.?), CACNA1H(NM_021098.3):c.4350+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211300T>C" "" "likely benign" "" "0000269619" "0" "30" "16" "1261921" "1261921" "subst" "0.000455134" "02326" "CACNA1H_000110" "g.1261921G>T" "" "" "" "CACNA1H(NM_021098.3):c.4567-25G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211921G>T" "" "likely benign" "" "0000269620" "0" "30" "16" "1262120" "1262120" "subst" "0.000103598" "02326" "CACNA1H_000111" "g.1262120C>G" "" "" "" "CACNA1H(NM_021098.3):c.4741C>G (p.L1581V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1212120C>G" "" "likely benign" "" "0000269621" "0" "30" "16" "1263766" "1263766" "subst" "0.00185342" "02326" "CACNA1H_000112" "g.1263766C>T" "" "" "" "CACNA1H(NM_021098.3):c.4778-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213766C>T" "" "likely benign" "" "0000269622" "0" "30" "16" "1263775" "1263775" "subst" "0.00139128" "02326" "CACNA1H_000113" "g.1263775C>T" "" "" "" "CACNA1H(NM_021098.3):c.4778-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213775C>T" "" "likely benign" "" "0000269623" "0" "30" "16" "1263819" "1263819" "subst" "0.00502505" "02326" "CACNA1H_000114" "g.1263819C>T" "" "" "" "CACNA1H(NM_021098.3):c.4817C>T (p.T1606M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213819C>T" "" "likely benign" "" "0000269624" "0" "30" "16" "1245509" "1245509" "subst" "0.00493654" "02326" "CACNA1H_000058" "g.1245509G>C" "" "" "" "CACNA1H(NM_001005407.1):c.489G>C (p.(Gln163His)), CACNA1H(NM_021098.3):c.489G>C (p.Q163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195509G>C" "" "likely benign" "" "0000269625" "0" "30" "16" "1263949" "1263949" "subst" "0.00858217" "02326" "CACNA1H_000045" "g.1263949G>A" "" "" "" "CACNA1H(NM_021098.3):c.4929+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213949G>A" "" "likely benign" "" "0000269626" "0" "30" "16" "1263939" "1263939" "subst" "0.00427303" "02326" "CACNA1H_000116" "g.1263939C>T" "" "" "" "CACNA1H(NM_021098.3):c.4929+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213939C>T" "" "likely benign" "" "0000269627" "0" "30" "16" "1265152" "1265152" "subst" "0" "02326" "CACNA1H_000117" "g.1265152C>T" "" "" "" "CACNA1H(NM_021098.3):c.5039+71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1215152C>T" "" "likely benign" "" "0000269628" "0" "10" "16" "1265412" "1265412" "subst" "0.0100396" "02326" "CACNA1H_000119" "g.1265412G>A" "" "" "" "CACNA1H(NM_021098.3):c.5173+37G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1215412G>A" "" "benign" "" "0000269630" "0" "30" "16" "1267915" "1267915" "subst" "0.00114203" "02326" "CACNA1H_000121" "g.1267915G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5306-4G>A (p.?), CACNA1H(NM_021098.3):c.5324-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1217915G>A" "" "likely benign" "" "0000269631" "0" "10" "16" "1268044" "1268044" "subst" "0.00286798" "02326" "CACNA1H_000122" "g.1268044C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5427+4C>T (p.?), CACNA1H(NM_021098.3):c.5445+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218044C>T" "" "benign" "" "0000269632" "0" "30" "16" "1268046" "1268046" "subst" "8.13559E-5" "02326" "CACNA1H_000123" "g.1268046C>T" "" "" "" "CACNA1H(NM_021098.3):c.5445+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218046C>T" "" "likely benign" "" "0000269633" "0" "10" "16" "1245916" "1245916" "subst" "0.0123245" "02326" "CACNA1H_000060" "g.1245916C>T" "" "" "" "CACNA1H(NM_021098.3):c.546-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195916C>T" "" "benign" "" "0000269634" "0" "30" "16" "1245879" "1245879" "subst" "0.000783977" "02326" "CACNA1H_000059" "g.1245879C>T" "" "" "" "CACNA1H(NM_021098.3):c.546-47C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195879C>T" "" "likely benign" "" "0000269635" "0" "10" "16" "1268257" "1268257" "subst" "0.00572238" "02326" "CACNA1H_000124" "g.1268257C>T" "" "" "" "CACNA1H(NM_021098.2):c.5493C>T (p.Y1831=), CACNA1H(NM_021098.3):c.5493C>T (p.Y1831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218257C>T" "" "benign" "" "0000269636" "0" "10" "16" "1268376" "1268376" "subst" "0.0548607" "02326" "CACNA1H_000030" "g.1268376G>A" "" "" "" "CACNA1H(NM_021098.3):c.5612G>A (p.R1871Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218376G>A" "" "benign" "" "0000269637" "0" "10" "16" "1268979" "1268979" "subst" "0.0169781" "02326" "CACNA1H_000033" "g.1268979C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5879C>T (p.(Ala1960Val)), CACNA1H(NM_021098.3):c.5897C>T (p.A1966V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218979C>T" "" "benign" "" "0000269638" "0" "10" "16" "1269029" "1269029" "subst" "0.651346" "02326" "CACNA1H_000034" "g.1269029T>C" "" "" "" "CACNA1H(NM_021098.3):c.5947T>C (p.L1983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219029T>C" "" "benign" "" "0000269639" "0" "30" "16" "1269071" "1269071" "subst" "0.000702372" "02326" "CACNA1H_000126" "g.1269071G>A" "" "" "" "CACNA1H(NM_021098.3):c.5989G>A (p.A1997T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219071G>A" "" "likely benign" "" "0000269640" "0" "10" "16" "1269095" "1269095" "subst" "0.0566159" "02326" "CACNA1H_000035" "g.1269095C>T" "" "" "" "CACNA1H(NM_021098.3):c.6013C>T (p.R2005C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219095C>T" "" "benign" "" "0000269641" "0" "30" "16" "1269142" "1269142" "subst" "0.00110426" "02326" "CACNA1H_000127" "g.1269142C>T" "" "" "" "CACNA1H(NM_021098.3):c.6048+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219142C>T" "" "likely benign" "" "0000269642" "0" "10" "16" "1269143" "1269143" "subst" "0.0315001" "02326" "CACNA1H_000128" "g.1269143G>A" "" "" "" "CACNA1H(NM_021098.3):c.6048+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219143G>A" "" "benign" "" "0000269643" "0" "10" "16" "1270111" "1270111" "subst" "0.108204" "02326" "CACNA1H_000026" "g.1270111G>A" "" "" "" "CACNA1H(NM_021098.3):c.6179G>A (p.R2060H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220111G>A" "" "benign" "" "0000269644" "0" "30" "16" "1270127" "1270127" "subst" "0.00202697" "02326" "CACNA1H_000130" "g.1270127C>T" "" "" "" "CACNA1H(NM_021098.2):c.6195C>T (p.A2065=), CACNA1H(NM_021098.3):c.6195C>T (p.A2065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220127C>T" "" "likely benign" "" "0000269645" "0" "10" "16" "1270162" "1270162" "subst" "0.656134" "02326" "CACNA1H_000027" "g.1270162G>A" "" "" "" "CACNA1H(NM_021098.3):c.6230G>A (p.R2077H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220162G>A" "" "benign" "" "0000269646" "0" "30" "16" "1270254" "1270254" "subst" "0.00147123" "02326" "CACNA1H_000131" "g.1270254G>A" "" "" "" "CACNA1H(NM_021098.3):c.6322G>A (p.A2108T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220254G>A" "" "likely benign" "" "0000269647" "0" "10" "16" "1270349" "1270349" "subst" "0.857613" "02326" "CACNA1H_000028" "g.1270349T>C" "" "" "" "CACNA1H(NM_021098.3):c.6417T>C (p.D2139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220349T>C" "" "benign" "" "0000269648" "0" "30" "16" "1270350" "1270350" "subst" "0.00256625" "02326" "CACNA1H_000029" "g.1270350G>A" "" "" "" "CACNA1H(NM_021098.2):c.6418G>A (p.A2140T), CACNA1H(NM_021098.3):c.6418G>A (p.(Ala2140Thr), p.A2140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220350G>A" "" "likely benign" "" "0000269649" "0" "10" "16" "1246034" "1246034" "subst" "0.00111237" "02326" "CACNA1H_000061" "g.1246034G>A" "" "" "" "CACNA1H(NM_021098.3):c.643+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1196034G>A" "" "benign" "" "0000269650" "0" "30" "16" "1270477" "1270477" "subst" "0.000163378" "02326" "CACNA1H_000132" "g.1270477G>A" "" "" "" "CACNA1H(NM_021098.3):c.6545G>A (p.R2182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220477G>A" "" "likely benign" "" "0000269651" "0" "30" "16" "1270585" "1270585" "subst" "0.00153116" "02326" "CACNA1H_000134" "g.1270585G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6635G>A (p.(Arg2212His)), CACNA1H(NM_021098.2):c.6653G>A (p.R2218H), CACNA1H(NM_021098.3):c.6653G>A (p.R2218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220585G>A" "" "likely benign" "" "0000269652" "0" "30" "16" "1250271" "1250271" "subst" "0.00141748" "02326" "CACNA1H_000063" "g.1250271C>T" "" "" "" "CACNA1H(NM_021098.3):c.819C>T (p.(Thr273=), p.T273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200271C>T" "" "likely benign" "" "0000269653" "0" "30" "16" "1250440" "1250440" "subst" "3.70892E-5" "02326" "CACNA1H_000064" "g.1250440G>A" "" "" "" "CACNA1H(NM_021098.2):c.988G>A (p.V330M), CACNA1H(NM_021098.3):c.988G>A (p.V330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200440G>A" "" "likely benign" "" "0000269654" "0" "10" "16" "1250446" "1250446" "subst" "0.0167807" "02326" "CACNA1H_000065" "g.1250446G>A" "" "" "" "CACNA1H(NM_001005407.1):c.994G>A (p.(Ala332Thr)), CACNA1H(NM_021098.3):c.994G>A (p.A332T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200446G>A" "" "benign" "" "0000272515" "0" "50" "16" "1259051" "1259051" "subst" "0" "01943" "CACNA1H_000095" "g.1259051C>T" "" "" "" "CACNA1H(NM_021098.2):c.3383C>T (p.P1128L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209051C>T" "" "VUS" "" "0000272516" "0" "30" "16" "1259247" "1259247" "subst" "0" "01943" "CACNA1H_000096" "g.1259247G>T" "" "" "" "CACNA1H(NM_021098.2):c.3579G>T (p.L1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209247G>T" "" "likely benign" "" "0000316993" "0" "30" "16" "1272769" "1272769" "subst" "2.44706E-5" "01943" "TPSG1_000001" "g.1272769T>G" "" "" "" "TPSG1(NM_012467.3):c.394A>C (p.S132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1222769T>G" "" "likely benign" "" "0000324403" "0" "50" "16" "1251945" "1251945" "subst" "0.00180268" "01804" "CACNA1H_000070" "g.1251945G>A" "" "" "" "CACNA1H(NM_001005407.1):c.1495G>A (p.(Gly499Ser)), CACNA1H(NM_021098.3):c.1495G>A (p.G499S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1201945G>A" "" "VUS" "" "0000324404" "0" "50" "16" "1258220" "1258220" "subst" "0.000347361" "01804" "CACNA1H_000091" "g.1258220C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3362C>T (p.?), CACNA1H(NM_021098.2):c.3362C>T (p.P1121L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208220C>T" "" "VUS" "" "0000324405" "0" "50" "16" "1260048" "1260048" "subst" "6.05441E-5" "01804" "CACNA1H_000101" "g.1260048G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3758G>A (p.(Arg1253His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210048G>A" "" "VUS" "" "0000324406" "0" "50" "16" "1260620" "1260620" "subst" "8.29442E-6" "01804" "CACNA1H_000104" "g.1260620C>T" "" "" "" "CACNA1H(NM_001005407.1):c.4007C>T (p.(Thr1336Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210620C>T" "" "VUS" "" "0000324407" "0" "50" "16" "1263883" "1263883" "subst" "0" "01804" "CACNA1H_000115" "g.1263883C>G" "" "" "" "CACNA1H(NM_001005407.1):c.4863C>G (p.(Ile1621Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213883C>G" "" "VUS" "" "0000324408" "0" "10" "16" "1265315" "1265315" "subst" "0.00551305" "01804" "CACNA1H_000118" "g.1265315G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5095G>A (p.(Ala1699Thr)), CACNA1H(NM_021098.3):c.5113G>A (p.A1705T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1215315G>A" "" "benign" "" "0000324409" "0" "30" "16" "1268451" "1268451" "subst" "2.64281E-5" "01804" "CACNA1H_000125" "g.1268451C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5669C>T (p.(Ala1890Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218451C>T" "" "likely benign" "" "0000339002" "0" "30" "16" "1259249" "1259249" "subst" "5.16803E-5" "02327" "CACNA1H_000137" "g.1259249G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209249G>A" "" "likely benign" "" "0000348813" "0" "50" "16" "1245967" "1245967" "subst" "0" "02327" "CACNA1H_000135" "g.1245967C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195967C>T" "" "VUS" "" "0000369648" "0" "70" "16" "1272273" "1272273" "subst" "0.000288322" "02509" "TPSG1_000005" "g.1272273G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1222273G>A" "" "likely pathogenic" "" "0000369649" "0" "70" "16" "1272750" "1272750" "subst" "0.0521271" "02509" "TPSG1_000004" "g.1272750G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1222750G>A" "" "likely pathogenic" "" "0000369699" "0" "70" "16" "1272273" "1272273" "subst" "0.000288322" "02509" "TPSG1_000005" "g.1272273G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1222273G>A" "" "likely pathogenic" "" "0000369700" "0" "70" "16" "1272750" "1272750" "subst" "0.0521271" "02509" "TPSG1_000004" "g.1272750G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1222750G>A" "" "likely pathogenic" "" "0000369701" "0" "70" "16" "1273444" "1273444" "subst" "0.0233163" "02509" "TPSG1_000003" "g.1273444G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1223444G>T" "" "likely pathogenic" "" "0000556506" "0" "30" "16" "1245101" "1245123" "del" "0" "01804" "TPSG1_000007" "g.1245101_1245123del" "" "" "" "CACNA1H(NM_001005407.1):c.411+8_411+30del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1195101_1195123del" "" "likely benign" "" "0000556507" "0" "30" "16" "1245474" "1245474" "subst" "0" "01804" "TPSG1_000008" "g.1245474G>A" "" "" "" "CACNA1H(NM_001005407.1):c.454G>A (p.(Val152Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1195474G>A" "" "likely benign" "" "0000556508" "0" "30" "16" "1245509" "1245509" "subst" "0.00493654" "01804" "CACNA1H_000058" "g.1245509G>C" "" "" "" "CACNA1H(NM_001005407.1):c.489G>C (p.(Gln163His)), CACNA1H(NM_021098.3):c.489G>C (p.Q163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1195509G>C" "" "likely benign" "" "0000556509" "0" "50" "16" "1248692" "1248692" "subst" "4.87793E-5" "02325" "TPSG1_000009" "g.1248692T>G" "" "" "" "CACNA1H(NM_021098.3):c.721T>G (p.F241V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1198692T>G" "" "VUS" "" "0000556510" "0" "30" "16" "1250279" "1250279" "subst" "0.000691928" "01804" "TPSG1_000010" "g.1250279G>A" "" "" "" "CACNA1H(NM_001005407.1):c.827G>A (p.(Arg276Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200279G>A" "" "likely benign" "" "0000556511" "0" "30" "16" "1250440" "1250440" "subst" "3.70892E-5" "01943" "CACNA1H_000064" "g.1250440G>A" "" "" "" "CACNA1H(NM_021098.2):c.988G>A (p.V330M), CACNA1H(NM_021098.3):c.988G>A (p.V330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200440G>A" "" "likely benign" "" "0000556512" "0" "30" "16" "1250445" "1250445" "subst" "7.40814E-5" "01943" "TPSG1_000011" "g.1250445C>A" "" "" "" "CACNA1H(NM_021098.2):c.993C>A (p.G331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200445C>A" "" "likely benign" "" "0000556513" "0" "30" "16" "1250446" "1250446" "subst" "0.0167807" "01804" "CACNA1H_000065" "g.1250446G>A" "" "" "" "CACNA1H(NM_001005407.1):c.994G>A (p.(Ala332Thr)), CACNA1H(NM_021098.3):c.994G>A (p.A332T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200446G>A" "" "likely benign" "" "0000556514" "0" "30" "16" "1250708" "1250708" "subst" "0.00875712" "01804" "CACNA1H_000067" "g.1250708C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1120-8C>T (p.(=)), CACNA1H(NM_021098.3):c.1120-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200708C>T" "" "likely benign" "" "0000556515" "0" "30" "16" "1251788" "1251788" "subst" "1.38764E-5" "01943" "TPSG1_000012" "g.1251788G>A" "" "" "" "CACNA1H(NM_021098.2):c.1338G>A (p.T446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201788G>A" "" "likely benign" "" "0000556516" "0" "10" "16" "1251803" "1251803" "subst" "0.117238" "02326" "CACNA1H_000005" "g.1251803C>T" "" "" "" "CACNA1H(NM_021098.3):c.1353C>T (p.S451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201803C>T" "" "benign" "" "0000556518" "0" "10" "16" "1251963" "1251963" "subst" "0.00144471" "01943" "TPSG1_000014" "g.1251963C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1513C>T (p.(Arg505Cys)), CACNA1H(NM_021098.2):c.1513C>T (p.R505C), CACNA1H(NM_021098.3):c.1513C>T (p.R505C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201963C>T" "" "benign" "" "0000556519" "0" "30" "16" "1251963" "1251963" "subst" "0.00144471" "01804" "TPSG1_000014" "g.1251963C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1513C>T (p.(Arg505Cys)), CACNA1H(NM_021098.2):c.1513C>T (p.R505C), CACNA1H(NM_021098.3):c.1513C>T (p.R505C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201963C>T" "" "likely benign" "" "0000556520" "0" "30" "16" "1252068" "1252068" "subst" "0" "01804" "TPSG1_000015" "g.1252068G>A" "" "" "" "CACNA1H(NM_001005407.1):c.1618G>A (p.(Gly540Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202068G>A" "" "likely benign" "" "0000556521" "0" "30" "16" "1252114" "1252114" "subst" "0.0109907" "01804" "CACNA1H_000071" "g.1252114C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1664C>T (p.(Ala555Val)), CACNA1H(NM_021098.3):c.1664C>T (p.A555V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202114C>T" "" "likely benign" "" "0000556522" "0" "10" "16" "1252369" "1252369" "subst" "0.386016" "02325" "CACNA1H_000008" "g.1252369C>T" "" "" "" "CACNA1H(NM_021098.3):c.1919C>T (p.P640L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202369C>T" "" "benign" "" "0000556523" "0" "10" "16" "1252369" "1252369" "subst" "0.386016" "02326" "CACNA1H_000008" "g.1252369C>T" "" "" "" "CACNA1H(NM_021098.3):c.1919C>T (p.P640L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202369C>T" "" "benign" "" "0000556525" "0" "50" "16" "1254064" "1254064" "subst" "0.00101162" "01943" "CACNA1H_000076" "g.1254064C>T" "" "" "" "CACNA1H(NM_001005407.1):c.2057C>T (p.(Pro686Leu)), CACNA1H(NM_021098.2):c.2057C>T (p.P686L), CACNA1H(NM_021098.3):c.2057C>T (p.P686L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1204064C>T" "" "VUS" "" "0000556526" "0" "30" "16" "1254064" "1254064" "subst" "0.00101162" "01804" "CACNA1H_000076" "g.1254064C>T" "" "" "" "CACNA1H(NM_001005407.1):c.2057C>T (p.(Pro686Leu)), CACNA1H(NM_021098.2):c.2057C>T (p.P686L), CACNA1H(NM_021098.3):c.2057C>T (p.P686L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1204064C>T" "" "likely benign" "" "0000556527" "0" "30" "16" "1254349" "1254349" "subst" "8.65809E-5" "01804" "TPSG1_000016" "g.1254349C>T" "" "" "" "CACNA1H(NM_001005407.1):c.2342C>T (p.(Thr781Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1204349C>T" "" "likely benign" "" "0000556528" "0" "30" "16" "1254361" "1254361" "subst" "0.00358092" "01804" "CACNA1H_000080" "g.1254361A>T" "" "" "" "CACNA1H(NM_001005407.1):c.2354A>T (p.(Lys785Met)), CACNA1H(NM_021098.3):c.2354A>T (p.K785M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1204361A>T" "" "likely benign" "" "0000556531" "0" "30" "16" "1255249" "1255249" "subst" "4.08477E-6" "01943" "TPSG1_000019" "g.1255249A>T" "" "" "" "CACNA1H(NM_021098.2):c.2587A>T (p.I863F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1205249A>T" "" "likely benign" "" "0000556532" "0" "50" "16" "1256151" "1256151" "subst" "0" "01804" "TPSG1_000020" "g.1256151G>A" "" "" "" "CACNA1H(NM_001005407.1):c.2651G>A (p.(Arg884His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1206151G>A" "" "VUS" "" "0000556533" "0" "30" "16" "1256216" "1256216" "subst" "4.27765E-5" "01943" "TPSG1_000021" "g.1256216G>A" "" "" "" "CACNA1H(NM_021098.2):c.2716G>A (p.V906M), CACNA1H(NM_021098.3):c.2716G>A (p.(Val906Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1206216G>A" "" "likely benign" "" "0000556536" "0" "30" "16" "1257299" "1257299" "subst" "2.50388E-5" "01804" "TPSG1_000023" "g.1257299G>A" "" "" "" "CACNA1H(NM_001005407.1):c.2932G>A (p.(Val978Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207299G>A" "" "likely benign" "" "0000556537" "0" "30" "16" "1257313" "1257313" "subst" "8.31864E-6" "01943" "TPSG1_000024" "g.1257313C>T" "" "" "" "CACNA1H(NM_021098.2):c.2946C>T (p.N982=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207313C>T" "" "likely benign" "" "0000556538" "0" "10" "16" "1257591" "1257591" "subst" "0" "02326" "TPSG1_000025" "g.1257591G>A" "" "" "" "CACNA1H(NM_021098.3):c.3063+161G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207591G>A" "" "benign" "" "0000556539" "0" "30" "16" "1258021" "1258021" "subst" "0.000169136" "01804" "TPSG1_000026" "g.1258021A>G" "" "" "" "CACNA1H(NM_001005407.1):c.3163A>G (p.(Met1055Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208021A>G" "" "likely benign" "" "0000556540" "0" "30" "16" "1258033" "1258033" "subst" "0.00727032" "01804" "CACNA1H_000089" "g.1258033G>T" "" "" "" "CACNA1H(NM_001005407.1):c.3175G>T (p.(Ala1059Ser)), CACNA1H(NM_021098.3):c.3175G>T (p.A1059S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208033G>T" "" "likely benign" "" "0000556541" "0" "30" "16" "1258064" "1258064" "subst" "0.00126441" "01804" "TPSG1_000027" "g.1258064G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3206G>A (p.(Arg1069Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208064G>A" "" "likely benign" "" "0000556542" "0" "30" "16" "1258149" "1258149" "subst" "2.11544E-5" "01943" "TPSG1_000028" "g.1258149C>T" "" "" "" "CACNA1H(NM_021098.2):c.3291C>T (p.A1097=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208149C>T" "" "likely benign" "" "0000556543" "0" "30" "16" "1258189" "1258189" "subst" "0.0013258" "01804" "CACNA1H_000090" "g.1258189G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3331G>A (p.(Gly1111Arg)), CACNA1H(NM_021098.3):c.3331G>A (p.G1111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208189G>A" "" "likely benign" "" "0000556544" "0" "30" "16" "1258220" "1258220" "subst" "0.000347361" "01943" "CACNA1H_000091" "g.1258220C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3362C>T (p.?), CACNA1H(NM_021098.2):c.3362C>T (p.P1121L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208220C>T" "" "likely benign" "" "0000556546" "0" "50" "16" "1259251" "1259251" "subst" "6.6402E-5" "01943" "TPSG1_000030" "g.1259251C>T" "" "" "" "CACNA1H(NM_021098.2):c.3583C>T (p.R1195W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209251C>T" "" "VUS" "" "0000556547" "0" "30" "16" "1259257" "1259257" "subst" "0.000443031" "01943" "CACNA1H_000097" "g.1259257G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3589G>A (p.(Glu1197Lys)), CACNA1H(NM_021098.2):c.3589G>A (p.E1197K), CACNA1H(NM_021098.3):c.3589G>A (p.E1197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209257G>A" "" "likely benign" "" "0000556548" "0" "30" "16" "1259257" "1259257" "subst" "0.000443031" "01804" "CACNA1H_000097" "g.1259257G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3589G>A (p.(Glu1197Lys)), CACNA1H(NM_021098.2):c.3589G>A (p.E1197K), CACNA1H(NM_021098.3):c.3589G>A (p.E1197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209257G>A" "" "likely benign" "" "0000556549" "0" "50" "16" "1259272" "1259272" "subst" "3.36895E-5" "01804" "TPSG1_000031" "g.1259272C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3604C>T (p.(Arg1202Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209272C>T" "" "VUS" "" "0000556550" "0" "30" "16" "1259282" "1259282" "subst" "0.000234451" "01804" "TPSG1_000032" "g.1259282G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3614G>A (p.(Arg1205Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209282G>A" "" "likely benign" "" "0000556551" "0" "50" "16" "1259410" "1259410" "subst" "4.38243E-5" "01804" "TPSG1_000033" "g.1259410G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3742G>A (p.(Asp1248Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209410G>A" "" "VUS" "" "0000556552" "0" "50" "16" "1260047" "1260047" "subst" "0.000134844" "01943" "CACNA1H_000140" "g.1260047C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3757C>T (p.(Arg1253Cys)), CACNA1H(NM_021098.2):c.3757C>T (p.R1253C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210047C>T" "" "VUS" "" "0000556553" "0" "30" "16" "1260082" "1260082" "subst" "0.000669668" "01943" "TPSG1_000034" "g.1260082G>T" "" "" "" "CACNA1H(NM_021098.2):c.3792G>T (p.Q1264H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210082G>T" "" "likely benign" "" "0000556554" "0" "30" "16" "1260354" "1260354" "subst" "0.269204" "02326" "TPSG1_000035" "g.1260354G>C" "" "" "" "CACNA1H(NM_021098.3):c.3846-16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210354G>C" "" "likely benign" "" "0000556555" "0" "30" "16" "1260364" "1260364" "subst" "0.134213" "01804" "CACNA1H_000138" "g.1260364A>C" "" "" "" "CACNA1H(NM_001005407.1):c.3846-6A>C (p.(=)), CACNA1H(NM_021098.3):c.3846-6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210364A>C" "" "likely benign" "" "0000556556" "0" "30" "16" "1260368" "1260372" "del" "0" "01804" "TPSG1_000036" "g.1260368_1260372del" "" "" "" "CACNA1H(NM_001005407.1):c.3846-2_3848del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210368_1210372del" "" "likely benign" "" "0000556557" "0" "30" "16" "1260449" "1260449" "subst" "0.000485861" "01804" "CACNA1H_000103" "g.1260449G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3925G>A (p.(Val1309Ile)), CACNA1H(NM_021098.3):c.3925G>A (p.V1309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210449G>A" "" "likely benign" "" "0000556558" "0" "30" "16" "1260673" "1260673" "subst" "0.00355031" "02326" "TPSG1_000037" "g.1260673G>A" "" "" "" "CACNA1H(NM_021098.3):c.4038+22G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210673G>A" "" "likely benign" "" "0000556560" "0" "30" "16" "1261162" "1261162" "subst" "0.00153927" "01804" "CACNA1H_000108" "g.1261162C>T" "" "" "" "CACNA1H(NM_001005407.1):c.4224-6C>T (p.(=)), CACNA1H(NM_021098.3):c.4224-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1211162C>T" "" "likely benign" "" "0000556561" "0" "30" "16" "1262000" "1262000" "subst" "7.72075E-5" "01804" "TPSG1_000038" "g.1262000A>G" "" "" "" "CACNA1H(NM_001005407.1):c.4621A>G (p.(Ile1541Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1212000A>G" "" "likely benign" "" "0000556563" "0" "30" "16" "1264974" "1264974" "subst" "0.0011417" "01804" "TPSG1_000039" "g.1264974G>A" "" "" "" "CACNA1H(NM_001005407.1):c.4914G>A (p.(=)), CACNA1H(NM_021098.3):c.4932G>A (p.S1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1214974G>A" "" "likely benign" "" "0000556564" "0" "30" "16" "1265315" "1265315" "subst" "0.00551305" "02326" "CACNA1H_000118" "g.1265315G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5095G>A (p.(Ala1699Thr)), CACNA1H(NM_021098.3):c.5113G>A (p.A1705T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1215315G>A" "" "likely benign" "" "0000556565" "0" "10" "16" "1266803" "1266804" "ins" "0" "02326" "TPSG1_000040" "g.1266803_1266804insT" "" "" "" "CACNA1H(NM_021098.3):c.5245-129_5245-128insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1216803_1216804insT" "" "benign" "" "0000556566" "0" "30" "16" "1267915" "1267915" "subst" "0.00114203" "01804" "CACNA1H_000121" "g.1267915G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5306-4G>A (p.?), CACNA1H(NM_021098.3):c.5324-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1217915G>A" "" "likely benign" "" "0000556567" "0" "30" "16" "1268044" "1268044" "subst" "0.00286798" "01804" "CACNA1H_000122" "g.1268044C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5427+4C>T (p.?), CACNA1H(NM_021098.3):c.5445+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218044C>T" "" "likely benign" "" "0000556568" "0" "10" "16" "1268257" "1268257" "subst" "0.00572238" "01943" "CACNA1H_000124" "g.1268257C>T" "" "" "" "CACNA1H(NM_021098.2):c.5493C>T (p.Y1831=), CACNA1H(NM_021098.3):c.5493C>T (p.Y1831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218257C>T" "" "benign" "" "0000556569" "0" "50" "16" "1268337" "1268337" "subst" "0" "01804" "TPSG1_000041" "g.1268337T>C" "" "" "" "CACNA1H(NM_021098.2):c.5573T>C (p.(Val1858Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218337T>C" "" "VUS" "" "0000556572" "0" "30" "16" "1268428" "1268428" "subst" "4.56216E-5" "01943" "TPSG1_000043" "g.1268428C>T" "" "" "" "CACNA1H(NM_021098.2):c.5664C>T (p.P1888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218428C>T" "" "likely benign" "" "0000556574" "0" "30" "16" "1268979" "1268979" "subst" "0.0169781" "01804" "CACNA1H_000033" "g.1268979C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5879C>T (p.(Ala1960Val)), CACNA1H(NM_021098.3):c.5897C>T (p.A1966V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218979C>T" "" "likely benign" "" "0000556577" "0" "30" "16" "1270328" "1270328" "subst" "0" "01943" "TPSG1_000046" "g.1270328G>A" "" "" "" "CACNA1H(NM_021098.2):c.6396G>A (p.L2132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220328G>A" "" "likely benign" "" "0000556578" "0" "30" "16" "1270350" "1270350" "subst" "0.00256625" "01804" "CACNA1H_000029" "g.1270350G>A" "" "" "" "CACNA1H(NM_021098.2):c.6418G>A (p.A2140T), CACNA1H(NM_021098.3):c.6418G>A (p.(Ala2140Thr), p.A2140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220350G>A" "" "likely benign" "" "0000556579" "0" "30" "16" "1270426" "1270426" "subst" "1.87728E-5" "01943" "TPSG1_000047" "g.1270426C>G" "" "" "" "CACNA1H(NM_021098.2):c.6494C>G (p.P2165R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220426C>G" "" "likely benign" "" "0000556580" "0" "30" "16" "1270463" "1270463" "subst" "0.000169895" "01943" "TPSG1_000048" "g.1270463C>T" "" "" "" "CACNA1H(NM_021098.2):c.6531C>T (p.P2177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220463C>T" "" "likely benign" "" "0000556581" "0" "30" "16" "1270554" "1270554" "subst" "0.000605914" "01804" "TPSG1_000049" "g.1270554G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6604G>A (p.(Ala2202Thr)), CACNA1H(NM_021098.2):c.6622G>A (p.A2208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220554G>A" "" "likely benign" "" "0000556582" "0" "50" "16" "1270585" "1270585" "subst" "0.00153116" "01943" "CACNA1H_000134" "g.1270585G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6635G>A (p.(Arg2212His)), CACNA1H(NM_021098.2):c.6653G>A (p.R2218H), CACNA1H(NM_021098.3):c.6653G>A (p.R2218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220585G>A" "" "VUS" "" "0000556583" "0" "30" "16" "1270585" "1270585" "subst" "0.00153116" "01804" "CACNA1H_000134" "g.1270585G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6635G>A (p.(Arg2212His)), CACNA1H(NM_021098.2):c.6653G>A (p.R2218H), CACNA1H(NM_021098.3):c.6653G>A (p.R2218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220585G>A" "" "likely benign" "" "0000556584" "0" "30" "16" "1270780" "1270780" "subst" "0.00039065" "01804" "TPSG1_000050" "g.1270780A>T" "" "" "" "CACNA1H(NM_001005407.1):c.6830A>T (p.(Asp2277Val)), CACNA1H(NM_021098.3):c.6848A>T (p.D2283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220780A>T" "" "likely benign" "" "0000556585" "0" "30" "16" "1270800" "1270800" "subst" "0" "01804" "TPSG1_000051" "g.1270800C>G" "" "" "" "CACNA1H(NM_001005407.1):c.6850C>G (p.(Pro2284Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220800C>G" "" "likely benign" "" "0000556587" "0" "30" "16" "1273424" "1273424" "subst" "0.000668351" "01804" "TPSB2_000002" "g.1273424C>T" "" "" "" "TPSG1(NM_012467.3):c.244G>A (p.(Gly82Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1223424C>T" "" "likely benign" "" "0000556588" "0" "30" "16" "1278902" "1278902" "subst" "0.0741539" "01804" "TPSB2_000003" "g.1278902G>T" "" "" "" "TPSB2(NM_024164.5):c.662C>A (p.(Pro221Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1228902G>T" "" "likely benign" "" "0000556589" "0" "30" "16" "1278906" "1278906" "subst" "0.0749163" "01804" "TPSB2_000004" "g.1278906T>G" "" "" "" "TPSB2(NM_024164.5):c.658A>C (p.(Met220Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1228906T>G" "" "likely benign" "" "0000556591" "0" "30" "16" "1278919" "1278919" "subst" "0.0754969" "01804" "TPSB2_000006" "g.1278919G>C" "" "" "" "TPSB2(NM_024164.5):c.645C>G (p.(His215Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1228919G>C" "" "likely benign" "" "0000615683" "0" "30" "16" "1250778" "1250778" "subst" "0" "01943" "TPSG1_000055" "g.1250778C>T" "" "" "" "CACNA1H(NM_021098.2):c.1182C>T (p.Y394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200778C>T" "" "likely benign" "" "0000615684" "0" "50" "16" "1251750" "1251750" "subst" "8.47328E-6" "02327" "TPSG1_000056" "g.1251750C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201750C>T" "" "VUS" "" "0000615685" "0" "30" "16" "1251998" "1251998" "subst" "0" "01943" "TPSG1_000057" "g.1251998C>G" "" "" "" "CACNA1H(NM_021098.2):c.1548C>G (p.H516Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201998C>G" "" "likely benign" "" "0000615686" "0" "30" "16" "1252112" "1252112" "subst" "2.24527E-5" "01943" "TPSG1_000058" "g.1252112C>T" "" "" "" "CACNA1H(NM_021098.2):c.1662C>T (p.G554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202112C>T" "" "likely benign" "" "0000615687" "0" "50" "16" "1255132" "1255132" "subst" "0" "02325" "TPSG1_000060" "g.1255132G>A" "" "" "" "CACNA1H(NM_021098.3):c.2470G>A (p.A824T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1205132G>A" "" "VUS" "" "0000615688" "0" "30" "16" "1257787" "1257787" "subst" "1.79469E-5" "01943" "TPSG1_000062" "g.1257787C>G" "" "" "" "CACNA1H(NM_021098.2):c.3081C>G (p.S1027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207787C>G" "" "likely benign" "" "0000615689" "0" "30" "16" "1259269" "1259269" "subst" "1.34765E-5" "01804" "TPSG1_000063" "g.1259269C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3601C>T (p.(Pro1201Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209269C>T" "" "likely benign" "" "0000615690" "0" "30" "16" "1260795" "1260795" "subst" "0" "01943" "TPSG1_000064" "g.1260795C>T" "" "" "" "CACNA1H(NM_021098.2):c.4047C>T (p.A1349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210795C>T" "" "likely benign" "" "0000615691" "0" "30" "16" "1267973" "1267973" "subst" "0.00121599" "01804" "TPSG1_000065" "g.1267973A>G" "" "" "" "CACNA1H(NM_001005407.1):c.5360A>G (p.(Asn1787Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1217973A>G" "" "likely benign" "" "0000615692" "0" "30" "16" "1268513" "1268513" "subst" "0.00110994" "01804" "TPSG1_000066" "g.1268513C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5731C>T (p.(Arg1911Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218513C>T" "" "likely benign" "" "0000615693" "0" "30" "16" "1270167" "1270167" "subst" "8.63462E-5" "01943" "TPSG1_000067" "g.1270167G>A" "" "" "" "CACNA1H(NM_021098.2):c.6235G>A (p.V2079I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220167G>A" "" "likely benign" "" "0000615694" "0" "30" "16" "1270350" "1270350" "subst" "0.00256625" "01943" "CACNA1H_000029" "g.1270350G>A" "" "" "" "CACNA1H(NM_021098.2):c.6418G>A (p.A2140T), CACNA1H(NM_021098.3):c.6418G>A (p.(Ala2140Thr), p.A2140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220350G>A" "" "likely benign" "" "0000615695" "0" "30" "16" "1270554" "1270554" "subst" "0.000605914" "01943" "TPSG1_000049" "g.1270554G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6604G>A (p.(Ala2202Thr)), CACNA1H(NM_021098.2):c.6622G>A (p.A2208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220554G>A" "" "likely benign" "" "0000623362" "0" "30" "16" "1248772" "1248772" "subst" "2.92407E-5" "01943" "TPSG1_000053" "g.1248772C>T" "" "" "" "CACNA1H(NM_021098.2):c.801C>T (p.V267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1198772C>T" "" "likely benign" "" "0000623363" "0" "30" "16" "1250481" "1250481" "subst" "6.9474E-5" "01943" "TPSG1_000054" "g.1250481C>T" "" "" "" "CACNA1H(NM_021098.2):c.1029C>T (p.Y343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200481C>T" "" "likely benign" "" "0000623364" "0" "30" "16" "1252152" "1252152" "subst" "0.00194218" "01943" "TPSG1_000059" "g.1252152G>A" "" "" "" "CACNA1H(NM_021098.2):c.1702G>A (p.D568N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202152G>A" "" "likely benign" "" "0000623365" "0" "30" "16" "1252274" "1252274" "subst" "0.00174436" "01943" "CACNA1H_000072" "g.1252274G>A" "" "" "" "CACNA1H(NM_021098.2):c.1824G>A (p.L608=), CACNA1H(NM_021098.3):c.1824G>A (p.L608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202274G>A" "" "likely benign" "" "0000623366" "0" "30" "16" "1257409" "1257409" "subst" "1.22249E-5" "01943" "TPSG1_000061" "g.1257409C>T" "" "" "" "CACNA1H(NM_021098.2):c.3042C>T (p.L1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207409C>T" "" "likely benign" "" "0000623367" "0" "30" "16" "1270649" "1270649" "subst" "0.00117055" "01943" "TPSG1_000068" "g.1270649C>T" "" "" "" "CACNA1H(NM_021098.2):c.6717C>T (p.G2239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220649C>T" "" "likely benign" "" "0000680382" "0" "50" "16" "1260047" "1260047" "subst" "0.000134844" "01804" "CACNA1H_000140" "g.1260047C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3757C>T (p.(Arg1253Cys)), CACNA1H(NM_021098.2):c.3757C>T (p.R1253C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680383" "0" "30" "16" "1270127" "1270127" "subst" "0.00202697" "01943" "CACNA1H_000130" "g.1270127C>T" "" "" "" "CACNA1H(NM_021098.2):c.6195C>T (p.A2065=), CACNA1H(NM_021098.3):c.6195C>T (p.A2065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691931" "0" "50" "16" "1245957" "1245957" "subst" "1.22043E-5" "02327" "TPSG1_000069" "g.1245957G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691932" "0" "30" "16" "1252067" "1252067" "subst" "6.22278E-5" "01943" "TPSG1_000070" "g.1252067C>T" "" "" "" "CACNA1H(NM_021098.2):c.1617C>T (p.P539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691933" "0" "50" "16" "1268566" "1268566" "subst" "2.95428E-5" "01804" "TPSG1_000071" "g.1268566C>G" "" "" "" "CACNA1H(NM_001005407.1):c.5784C>G (p.(Phe1928Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691934" "0" "50" "16" "1270227" "1270227" "subst" "0" "01804" "TPSG1_000072" "g.1270227G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6277G>A (p.(Glu2093Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725437" "0" "10" "16" "1251803" "1251803" "subst" "0.117238" "02327" "CACNA1H_000005" "g.1251803C>T" "" "" "" "CACNA1H(NM_021098.3):c.1353C>T (p.S451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725438" "0" "10" "16" "1252118" "1252118" "subst" "0.114244" "02327" "CACNA1H_000006" "g.1252118C>T" "" "" "" "CACNA1H(NM_021098.3):c.1668C>T (p.P556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725439" "0" "10" "16" "1252259" "1252259" "subst" "0.417964" "02327" "CACNA1H_000007" "g.1252259A>G" "" "" "" "CACNA1H(NM_021098.3):c.1809A>G (p.R603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725440" "0" "10" "16" "1252369" "1252369" "subst" "0.386016" "02327" "CACNA1H_000008" "g.1252369C>T" "" "" "" "CACNA1H(NM_021098.3):c.1919C>T (p.P640L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000735348" "0" "70" "16" "1272303" "1272303" "subst" "1.68114E-5" "00000" "TPSG1_000073" "g.1272303C>T" "" "{PMID:Jin 2017:28373534}" "" "" "" "De novo" "" "" "0" "" "" "g.1222303C>T" "" "likely pathogenic" "" "0000807057" "0" "30" "16" "1259223" "1259223" "subst" "0.000696452" "01943" "TPSG1_000074" "g.1259223G>A" "" "" "" "CACNA1H(NM_021098.2):c.3555G>A (p.A1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807058" "0" "30" "16" "1270545" "1270545" "subst" "5.47692E-5" "01943" "TPSG1_000075" "g.1270545C>T" "" "" "" "CACNA1H(NM_021098.2):c.6613C>T (p.R2205W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854266" "0" "30" "16" "1251886" "1251886" "subst" "0.000228771" "02326" "TPSG1_000076" "g.1251886A>G" "" "" "" "CACNA1H(NM_021098.3):c.1436A>G (p.Y479C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854267" "0" "10" "16" "1251945" "1251945" "subst" "0.00180268" "02326" "CACNA1H_000070" "g.1251945G>A" "" "" "" "CACNA1H(NM_001005407.1):c.1495G>A (p.(Gly499Ser)), CACNA1H(NM_021098.3):c.1495G>A (p.G499S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854268" "0" "10" "16" "1255285" "1255285" "subst" "0.00219924" "02326" "TPSG1_000077" "g.1255285C>A" "" "" "" "CACNA1H(NM_021098.3):c.2603+20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854269" "0" "30" "16" "1256996" "1256996" "subst" "9.11392E-5" "02326" "TPSG1_000022" "g.1256996C>T" "" "" "" "CACNA1H(NM_021098.3):c.2790-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854270" "0" "10" "16" "1258047" "1258047" "subst" "0.00178364" "02326" "TPSG1_000078" "g.1258047C>T" "" "" "" "CACNA1H(NM_021098.3):c.3189C>T (p.N1063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854271" "0" "30" "16" "1262544" "1262544" "subst" "0.00164474" "02326" "TPSG1_000081" "g.1262544C>T" "" "" "" "CACNA1H(NM_021098.3):c.4777+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854272" "0" "30" "16" "1263781" "1263781" "subst" "3.8321E-5" "02326" "TPSG1_000082" "g.1263781G>A" "" "" "" "CACNA1H(NM_021098.3):c.4779G>A (p.E1593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854273" "0" "10" "16" "1266940" "1266940" "subst" "0.00173051" "02326" "TPSG1_000085" "g.1266940C>T" "" "" "" "CACNA1H(NM_021098.3):c.5253C>T (p.N1751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854274" "0" "30" "16" "1268596" "1268596" "subst" "0.000674437" "02326" "TPSG1_000086" "g.1268596C>T" "" "" "" "CACNA1H(NM_021098.3):c.5832C>T (p.H1944=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854275" "0" "10" "16" "1270866" "1270866" "subst" "0.00161935" "02326" "TPSG1_000052" "g.1270866A>G" "" "" "" "CACNA1H(NM_021098.3):c.6934A>G (p.M2312V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864286" "0" "30" "16" "1261231" "1261231" "subst" "8.53964E-5" "02326" "TPSG1_000079" "g.1261231C>A" "" "" "" "CACNA1H(NM_021098.3):c.4287C>A (p.P1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864287" "0" "30" "16" "1262151" "1262151" "subst" "7.34909E-5" "02326" "TPSG1_000080" "g.1262151C>T" "" "" "" "CACNA1H(NM_021098.3):c.4759+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864288" "0" "50" "16" "1265066" "1265066" "subst" "0.000107557" "01804" "CACNA1H_000139" "g.1265066G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5006G>A (p.(Arg1669Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864289" "0" "30" "16" "1265098" "1265098" "subst" "0.000316386" "02326" "TPSG1_000083" "g.1265098C>T" "" "" "" "CACNA1H(NM_021098.3):c.5039+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864290" "0" "50" "16" "1265375" "1265375" "subst" "1.66568E-5" "02326" "TPSG1_000084" "g.1265375G>C" "" "" "" "CACNA1H(NM_021098.3):c.5173G>C (p.V1725L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864291" "0" "10" "16" "1269070" "1269070" "subst" "0.00408942" "02326" "TPSG1_000087" "g.1269070C>T" "" "" "" "CACNA1H(NM_021098.3):c.5988C>T (p.H1996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864292" "0" "30" "16" "1278674" "1278674" "subst" "0" "01943" "TPSB2_000009" "g.1278674G>A" "" "" "" "TPSB2(NM_024164.5):c.804C>T (p.H268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892502" "0" "30" "16" "1203917" "1203917" "subst" "0.000326847" "02326" "TPSG1_000088" "g.1203917G>C" "" "" "" "CACNA1H(NM_021098.3):c.180G>C (p.(Ala60=), p.A60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892503" "0" "30" "16" "1204050" "1204050" "subst" "0" "02326" "TPSG1_000089" "g.1204050C>G" "" "" "" "CACNA1H(NM_021098.3):c.299+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892504" "0" "30" "16" "1244986" "1244986" "subst" "0.00016711" "02326" "TPSG1_000090" "g.1244986T>G" "" "" "" "CACNA1H(NM_021098.3):c.314T>G (p.(Val105Gly), p.V105G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892505" "0" "30" "16" "1250367" "1250367" "subst" "2.72707E-5" "02326" "TPSG1_000091" "g.1250367C>T" "" "" "" "CACNA1H(NM_021098.3):c.915C>T (p.I305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892506" "0" "30" "16" "1251686" "1251686" "subst" "0.00185054" "02326" "TPSG1_000092" "g.1251686C>T" "" "" "" "CACNA1H(NM_021098.3):c.1236C>T (p.N412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892507" "0" "30" "16" "1251963" "1251963" "subst" "0.00144471" "02326" "TPSG1_000014" "g.1251963C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1513C>T (p.(Arg505Cys)), CACNA1H(NM_021098.2):c.1513C>T (p.R505C), CACNA1H(NM_021098.3):c.1513C>T (p.R505C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892508" "0" "30" "16" "1256099" "1256099" "subst" "0.000249233" "02326" "TPSG1_000093" "g.1256099C>T" "" "" "" "CACNA1H(NM_021098.3):c.2604-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892509" "0" "30" "16" "1258119" "1258119" "subst" "0.000935961" "02326" "TPSG1_000094" "g.1258119C>A" "" "" "" "CACNA1H(NM_021098.3):c.3261C>A (p.T1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892510" "0" "30" "16" "1259273" "1259273" "subst" "5.34431E-5" "02326" "TPSG1_000095" "g.1259273G>A" "" "" "" "CACNA1H(NM_021098.3):c.3605G>A (p.R1202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892511" "0" "10" "16" "1262014" "1262014" "subst" "0.00223087" "02326" "TPSG1_000096" "g.1262014C>T" "" "" "" "CACNA1H(NM_021098.3):c.4635C>T (p.F1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892512" "0" "30" "16" "1266982" "1266982" "subst" "0.000526114" "02326" "TPSG1_000097" "g.1266982G>A" "" "" "" "CACNA1H(NM_021098.3):c.5295G>A (p.A1765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892513" "0" "30" "16" "1268022" "1268022" "subst" "4.48129E-6" "02326" "TPSG1_000098" "g.1268022C>T" "" "" "" "CACNA1H(NM_021098.3):c.5427C>T (p.N1809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892514" "0" "30" "16" "1268439" "1268439" "subst" "0.00120491" "02326" "TPSG1_000099" "g.1268439G>T" "" "" "" "CACNA1H(NM_021098.3):c.5675G>T (p.R1892L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892515" "0" "30" "16" "1268604" "1268604" "subst" "0.0012409" "02326" "TPSG1_000100" "g.1268604C>T" "" "" "" "CACNA1H(NM_021098.3):c.5840C>T (p.P1947L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892516" "0" "30" "16" "1270154" "1270154" "subst" "0.000127697" "02326" "TPSG1_000101" "g.1270154C>T" "" "" "" "CACNA1H(NM_021098.3):c.6222C>T (p.(Phe2074=), p.F2074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892517" "0" "30" "16" "1270205" "1270205" "subst" "0.0012696" "02326" "TPSG1_000102" "g.1270205C>T" "" "" "" "CACNA1H(NM_021098.3):c.6273C>T (p.A2091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892518" "0" "30" "16" "1270511" "1270511" "subst" "0.00311127" "02326" "TPSG1_000103" "g.1270511G>A" "" "" "" "CACNA1H(NM_021098.3):c.6579G>A (p.S2193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892519" "0" "30" "16" "1270653" "1270653" "subst" "0.000470614" "02326" "TPSG1_000104" "g.1270653G>A" "" "" "" "CACNA1H(NM_021098.3):c.6721G>A (p.G2241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892520" "0" "30" "16" "1270780" "1270780" "subst" "0.00039065" "02326" "TPSG1_000050" "g.1270780A>T" "" "" "" "CACNA1H(NM_001005407.1):c.6830A>T (p.(Asp2277Val)), CACNA1H(NM_021098.3):c.6848A>T (p.D2283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914448" "0" "30" "16" "1250370" "1250370" "subst" "0.00114226" "02326" "TPSG1_000105" "g.1250370C>T" "" "" "" "CACNA1H(NM_021098.3):c.918C>T (p.P306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914449" "0" "30" "16" "1251809" "1251809" "subst" "0.00120451" "02326" "TPSG1_000106" "g.1251809T>C" "" "" "" "CACNA1H(NM_021098.3):c.1359T>C (p.P453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914450" "0" "30" "16" "1255206" "1255206" "subst" "0.00124044" "02326" "TPSG1_000107" "g.1255206C>A" "" "" "" "CACNA1H(NM_021098.3):c.2544C>A (p.G848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914451" "0" "30" "16" "1259257" "1259257" "subst" "0.000443031" "02326" "CACNA1H_000097" "g.1259257G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3589G>A (p.(Glu1197Lys)), CACNA1H(NM_021098.2):c.3589G>A (p.E1197K), CACNA1H(NM_021098.3):c.3589G>A (p.E1197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914452" "0" "30" "16" "1261550" "1261550" "subst" "0.000532717" "02326" "TPSG1_000108" "g.1261550C>T" "" "" "" "CACNA1H(NM_021098.3):c.4420C>T (p.R1474W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914453" "0" "30" "16" "1265385" "1265385" "subst" "0.000850791" "02326" "TPSG1_000109" "g.1265385C>T" "" "" "" "CACNA1H(NM_021098.3):c.5173+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914454" "0" "30" "16" "1268419" "1268419" "subst" "0.000871215" "02326" "TPSG1_000110" "g.1268419G>A" "" "" "" "CACNA1H(NM_021098.3):c.5655G>A (p.A1885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914455" "0" "10" "16" "1270871" "1270871" "subst" "0.00234858" "02326" "TPSG1_000111" "g.1270871C>T" "" "" "" "CACNA1H(NM_021098.3):c.6939C>T (p.P2313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926114" "0" "30" "16" "1204050" "1204056" "del" "0" "02326" "TPSG1_000112" "g.1204050_1204056del" "" "" "" "CACNA1H(NM_021098.3):c.299+14_299+20delCCGGCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926115" "0" "30" "16" "1245034" "1245034" "subst" "4.47916E-5" "02326" "TPSG1_000113" "g.1245034G>A" "" "" "" "CACNA1H(NM_021098.3):c.362G>A (p.R121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926116" "0" "30" "16" "1250826" "1250826" "subst" "0.000361204" "02326" "TPSG1_000114" "g.1250826T>C" "" "" "" "CACNA1H(NM_021098.3):c.1212+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926117" "0" "30" "16" "1254276" "1254276" "subst" "9.01953E-5" "02326" "TPSG1_000115" "g.1254276G>C" "" "" "" "CACNA1H(NM_021098.3):c.2269G>C (p.G757R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926118" "0" "30" "16" "1260663" "1260663" "subst" "0.000994952" "02326" "TPSG1_000116" "g.1260663C>T" "" "" "" "CACNA1H(NM_021098.3):c.4038+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926119" "0" "30" "16" "1260666" "1260666" "subst" "0.000999444" "02326" "TPSG1_000117" "g.1260666G>T" "" "" "" "CACNA1H(NM_021098.3):c.4038+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926120" "0" "30" "16" "1262093" "1262093" "subst" "0.000134742" "02326" "TPSG1_000118" "g.1262093C>T" "" "" "" "CACNA1H(NM_021098.3):c.4714C>T (p.R1572W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926121" "0" "30" "16" "1264974" "1264974" "subst" "0.0011417" "02326" "TPSG1_000039" "g.1264974G>A" "" "" "" "CACNA1H(NM_001005407.1):c.4914G>A (p.(=)), CACNA1H(NM_021098.3):c.4932G>A (p.S1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926122" "0" "10" "16" "1270475" "1270475" "subst" "0.00163492" "02326" "TPSG1_000119" "g.1270475G>A" "" "" "" "CACNA1H(NM_021098.3):c.6543G>A (p.A2181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930497" "0" "30" "16" "1260979" "1260979" "dup" "0" "02326" "TPSG1_000120" "g.1260979dup" "" "" "" "CACNA1H(NM_021098.3):c.4223+8dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930498" "0" "30" "16" "1261963" "1261963" "subst" "0.000154578" "02326" "TPSG1_000121" "g.1261963C>T" "" "" "" "CACNA1H(NM_021098.3):c.4584C>T (p.N1528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930499" "0" "30" "16" "1269084" "1269084" "subst" "0.000302718" "02326" "TPSG1_000122" "g.1269084G>A" "" "" "" "CACNA1H(NM_021098.3):c.6002G>A (p.R2001Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950504" "0" "30" "16" "1252124" "1252124" "subst" "0.000250634" "02326" "TPSG1_000123" "g.1252124G>A" "" "" "" "CACNA1H(NM_021098.3):c.1674G>A (p.S558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950505" "0" "30" "16" "1255173" "1255173" "subst" "0.000215528" "02326" "TPSG1_000124" "g.1255173C>T" "" "" "" "CACNA1H(NM_021098.3):c.2511C>T (p.A837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950506" "0" "30" "16" "1259285" "1259285" "subst" "0.000191191" "02326" "TPSG1_000125" "g.1259285C>T" "" "" "" "CACNA1H(NM_021098.3):c.3617C>T (p.P1206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950507" "0" "30" "16" "1265393" "1265393" "subst" "0.00110098" "02326" "TPSG1_000126" "g.1265393C>T" "" "" "" "CACNA1H(NM_021098.3):c.5173+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968083" "0" "50" "16" "1248684" "1248684" "subst" "0.000333301" "02327" "TPSG1_000127" "g.1248684T>G" "" "" "" "CACNA1H(NM_021098.3):c.713T>G (p.F238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968085" "0" "30" "16" "1251831" "1251831" "subst" "0.00109995" "02326" "TPSG1_000128" "g.1251831C>T" "" "" "" "CACNA1H(NM_021098.3):c.1381C>T (p.L461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968086" "0" "30" "16" "1252394" "1252394" "subst" "0" "02326" "TPSG1_000129" "g.1252394G>A" "" "" "" "CACNA1H(NM_021098.3):c.1944G>A (p.P648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968087" "0" "30" "16" "1255107" "1255107" "subst" "0.000103684" "02326" "TPSG1_000017" "g.1255107C>T" "" "" "" "CACNA1H(NM_021098.3):c.2452-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968088" "0" "30" "16" "1256131" "1256131" "subst" "0.00188232" "02326" "TPSG1_000130" "g.1256131C>T" "" "" "" "CACNA1H(NM_021098.3):c.2631C>T (p.D877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968089" "0" "50" "16" "1257426" "1257426" "subst" "4.08403E-6" "02327" "TPSG1_000131" "g.1257426C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968090" "0" "30" "16" "1259029" "1259029" "subst" "0.000162904" "02326" "TPSG1_000132" "g.1259029C>T" "" "" "" "CACNA1H(NM_021098.3):c.3364-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968091" "0" "30" "16" "1268439" "1268439" "subst" "0.000333971" "02326" "CACNA1H_000050" "g.1268439G>A" "" "" "" "CACNA1H(NM_021098.3):c.5675G>A (p.R1892H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968092" "0" "30" "16" "1269971" "1269971" "subst" "0" "02326" "TPSG1_000133" "g.1269971G>A" "" "" "" "CACNA1H(NM_021098.3):c.6049-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981565" "0" "30" "16" "1203917" "1203917" "subst" "0.000326847" "01804" "TPSG1_000088" "g.1203917G>C" "" "" "" "CACNA1H(NM_021098.3):c.180G>C (p.(Ala60=), p.A60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981566" "0" "30" "16" "1244986" "1244986" "subst" "0.00016711" "01804" "TPSG1_000090" "g.1244986T>G" "" "" "" "CACNA1H(NM_021098.3):c.314T>G (p.(Val105Gly), p.V105G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981567" "0" "50" "16" "1245529" "1245529" "subst" "0" "01804" "TPSG1_000134" "g.1245529C>A" "" "" "" "CACNA1H(NM_021098.3):c.509C>A (p.(Thr170Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981568" "0" "30" "16" "1248684" "1248684" "subst" "0.000333301" "02326" "TPSG1_000127" "g.1248684T>G" "" "" "" "CACNA1H(NM_021098.3):c.713T>G (p.F238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981569" "0" "50" "16" "1248746" "1248746" "subst" "0" "01804" "TPSG1_000135" "g.1248746C>T" "" "" "" "CACNA1H(NM_021098.3):c.775C>T (p.(Arg259Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981571" "0" "30" "16" "1250271" "1250271" "subst" "0.00141748" "01804" "CACNA1H_000063" "g.1250271C>T" "" "" "" "CACNA1H(NM_021098.3):c.819C>T (p.(Thr273=), p.T273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981572" "0" "30" "16" "1250410" "1250410" "subst" "5.90907E-5" "01804" "TPSG1_000136" "g.1250410G>A" "" "" "" "CACNA1H(NM_021098.3):c.958G>A (p.(Glu320Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981573" "0" "30" "16" "1250706" "1250706" "subst" "0" "01804" "TPSG1_000137" "g.1250706G>T" "" "" "" "CACNA1H(NM_021098.3):c.1120-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981574" "0" "50" "16" "1251871" "1251871" "subst" "0" "01804" "TPSG1_000138" "g.1251871G>C" "" "" "" "CACNA1H(NM_021098.3):c.1421G>C (p.(Arg474Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981575" "0" "30" "16" "1252203" "1252203" "subst" "0.000159671" "01804" "TPSG1_000139" "g.1252203C>T" "" "" "" "CACNA1H(NM_021098.3):c.1753C>T (p.(Pro585Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981576" "0" "30" "16" "1252228" "1252239" "del" "0.000114958" "01804" "TPSG1_000140" "g.1252228_1252239del" "" "" "" "CACNA1H(NM_021098.3):c.1778_1789del (p.(His593_Thr597delinsPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981577" "0" "30" "16" "1254152" "1254152" "subst" "0.000576212" "02326" "TPSG1_000141" "g.1254152C>T" "" "" "" "CACNA1H(NM_021098.3):c.2145C>T (p.S715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981578" "0" "30" "16" "1254336" "1254336" "subst" "0.000132161" "01804" "TPSG1_000142" "g.1254336C>T" "" "" "" "CACNA1H(NM_021098.3):c.2329C>T (p.(Arg777Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981579" "0" "50" "16" "1256130" "1256130" "subst" "0" "01804" "TPSG1_000143" "g.1256130A>G" "" "" "" "CACNA1H(NM_021098.3):c.2630A>G (p.(Asp877Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981580" "0" "30" "16" "1256215" "1256215" "subst" "0" "02326" "TPSG1_000144" "g.1256215C>T" "" "" "" "CACNA1H(NM_021098.3):c.2715C>T (p.L905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981581" "0" "30" "16" "1256216" "1256216" "subst" "4.27765E-5" "01804" "TPSG1_000021" "g.1256216G>A" "" "" "" "CACNA1H(NM_021098.2):c.2716G>A (p.V906M), CACNA1H(NM_021098.3):c.2716G>A (p.(Val906Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981582" "0" "30" "16" "1260904" "1260904" "subst" "5.002E-5" "01804" "TPSG1_000145" "g.1260904G>A" "" "" "" "CACNA1H(NM_021098.3):c.4156G>A (p.(Ala1386Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981583" "0" "30" "16" "1261300" "1261300" "subst" "2.44218E-5" "01804" "CACNA1H_000109" "g.1261300T>C" "" "" "" "CACNA1H(NM_021098.2):c.4350+6T>C (p.?), CACNA1H(NM_021098.3):c.4350+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981584" "0" "30" "16" "1262116" "1262116" "subst" "0.000239751" "02326" "TPSG1_000146" "g.1262116G>A" "" "" "" "CACNA1H(NM_021098.3):c.4737G>A (p.R1579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981585" "0" "50" "16" "1268383" "1268383" "subst" "6.01938E-6" "01804" "TPSG1_000147" "g.1268383T>A" "" "" "" "CACNA1H(NM_021098.3):c.5619T>A (p.(Asp1873Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981586" "0" "50" "16" "1268384" "1268384" "subst" "0" "01804" "TPSG1_000148" "g.1268384G>T" "" "" "" "CACNA1H(NM_021098.3):c.5620G>T (p.(Ala1874Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981587" "0" "30" "16" "1269978" "1269978" "subst" "5.18888E-5" "01804" "TPSG1_000149" "g.1269978C>T" "" "" "" "CACNA1H(NM_021098.3):c.6049-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981588" "0" "50" "16" "1270110" "1270110" "subst" "0" "01804" "TPSG1_000150" "g.1270110C>T" "" "" "" "CACNA1H(NM_021098.3):c.6178C>T (p.(Arg2060Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981589" "0" "30" "16" "1270154" "1270154" "subst" "0.000127697" "01804" "TPSG1_000101" "g.1270154C>T" "" "" "" "CACNA1H(NM_021098.3):c.6222C>T (p.(Phe2074=), p.F2074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981590" "0" "50" "16" "1270206" "1270206" "subst" "0" "01804" "TPSG1_000151" "g.1270206G>A" "" "" "" "CACNA1H(NM_021098.3):c.6274G>A (p.(Glu2092Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981591" "0" "50" "16" "1270736" "1270736" "subst" "8.20735E-6" "01804" "TPSG1_000152" "g.1270736T>G" "" "" "" "CACNA1H(NM_021098.3):c.6804T>G (p.(Phe2268Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981592" "0" "50" "16" "1270787" "1270787" "subst" "8.13451E-6" "01804" "TPSG1_000153" "g.1270787C>A" "" "" "" "CACNA1H(NM_021098.3):c.6855C>A (p.(Ser2285Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001859" "0" "30" "16" "1203988" "1203988" "subst" "0" "01804" "TPSG1_000154" "g.1203988G>A" "" "" "" "CACNA1H(NM_021098.2):c.251G>A (p.(Gly84Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001860" "0" "50" "16" "1204038" "1204038" "subst" "0" "01804" "TPSG1_000155" "g.1204038T>C" "" "" "" "CACNA1H(NM_021098.2):c.299+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001861" "0" "50" "16" "1250723" "1250723" "subst" "0" "01804" "TPSG1_000156" "g.1250723C>T" "" "" "" "CACNA1H(NM_021098.2):c.1127C>T (p.(Thr376Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001862" "0" "50" "16" "1250806" "1250806" "subst" "3.9773E-5" "01804" "TPSG1_000157" "g.1250806A>G" "" "" "" "CACNA1H(NM_021098.2):c.1210A>G (p.(Ile404Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001863" "0" "50" "16" "1251870" "1251870" "subst" "0" "01804" "TPSG1_000158" "g.1251870C>T" "" "" "" "CACNA1H(NM_021098.2):c.1420C>T (p.(Arg474Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001864" "0" "50" "16" "1252083" "1252083" "subst" "0" "01804" "TPSG1_000159" "g.1252083G>A" "" "" "" "CACNA1H(NM_021098.2):c.1633G>A (p.(Ala545Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001865" "0" "30" "16" "1252303" "1252303" "subst" "0.000534177" "01804" "CACNA1H_000073" "g.1252303C>T" "" "" "" "CACNA1H(NM_021098.2):c.1853C>T (p.(Pro618Leu)), CACNA1H(NM_021098.3):c.1853C>T (p.P618L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001866" "0" "30" "16" "1256126" "1256126" "subst" "0.00118637" "01804" "TPSG1_000160" "g.1256126G>A" "" "" "" "CACNA1H(NM_021098.2):c.2626G>A (p.(Ala876Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001867" "0" "50" "16" "1257357" "1257357" "subst" "3.26299E-5" "01804" "TPSG1_000161" "g.1257357C>T" "" "" "" "CACNA1H(NM_021098.2):c.2990C>T (p.(Ala997Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001868" "0" "50" "16" "1257792" "1257792" "subst" "0" "01804" "TPSG1_000162" "g.1257792C>T" "" "" "" "CACNA1H(NM_021098.2):c.3086C>T (p.(Thr1029Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001869" "0" "50" "16" "1258076" "1258076" "subst" "0" "01804" "TPSG1_000163" "g.1258076C>G" "" "" "" "CACNA1H(NM_021098.2):c.3218C>G (p.(Ser1073Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001870" "0" "50" "16" "1258166" "1258166" "subst" "5.92368E-6" "01804" "TPSG1_000164" "g.1258166C>A" "" "" "" "CACNA1H(NM_021098.2):c.3308C>A (p.(Ser1103Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001871" "0" "50" "16" "1259137" "1259137" "subst" "0" "01804" "TPSG1_000165" "g.1259137C>T" "" "" "" "CACNA1H(NM_021098.2):c.3469C>T (p.(Arg1157Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001872" "0" "30" "16" "1259297" "1259297" "subst" "0.000757547" "01804" "TPSG1_000166" "g.1259297C>T" "" "" "" "CACNA1H(NM_021098.2):c.3629C>T (p.(Pro1210Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001873" "0" "50" "16" "1259318" "1259318" "subst" "2.21268E-5" "01804" "TPSG1_000167" "g.1259318G>A" "" "" "" "CACNA1H(NM_021098.2):c.3650G>A (p.(Arg1217His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001875" "0" "50" "16" "1265063" "1265063" "subst" "0" "01804" "TPSG1_000168" "g.1265063G>C" "" "" "" "CACNA1H(NM_021098.2):c.5021G>C (p.(Arg1674Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001876" "0" "50" "16" "1268246" "1268246" "subst" "0" "01804" "TPSG1_000169" "g.1268246T>C" "" "" "" "CACNA1H(NM_021098.2):c.5482T>C (p.(Cys1828Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001877" "0" "50" "16" "1269078" "1269078" "subst" "6.85551E-6" "01804" "TPSG1_000170" "g.1269078C>T" "" "" "" "CACNA1H(NM_021098.2):c.5996C>T (p.(Ser1999Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001878" "0" "50" "16" "1270243" "1270257" "del" "0" "01804" "TPSG1_000171" "g.1270243_1270257del" "" "" "" "CACNA1H(NM_021098.2):c.6311_6325delTCACCAGCTCCGCCT (p.(Ile2104_Cys2109delinsSer))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001879" "0" "30" "16" "1270330" "1270330" "subst" "0" "01804" "TPSG1_000172" "g.1270330G>T" "" "" "" "CACNA1H(NM_021098.2):c.6398G>T (p.(Arg2133Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001880" "0" "50" "16" "1270435" "1270435" "subst" "0" "01804" "TPSG1_000173" "g.1270435C>G" "" "" "" "CACNA1H(NM_021098.2):c.6503C>G (p.(Ala2168Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001881" "0" "30" "16" "1270645" "1270645" "subst" "2.2603E-5" "01804" "TPSG1_000174" "g.1270645C>T" "" "" "" "CACNA1H(NM_021098.2):c.6713C>T (p.(Ser2238Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001882" "0" "30" "16" "1270868" "1270868" "subst" "0" "01804" "TPSG1_000175" "g.1270868G>A" "" "" "" "CACNA1H(NM_021098.2):c.6936G>A (p.(Met2312Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015290" "0" "30" "16" "1270181" "1270181" "subst" "8.93256E-5" "02326" "TPSG1_000176" "g.1270181G>A" "" "" "" "CACNA1H(NM_021098.3):c.6249G>A (p.P2083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026561" "0" "30" "16" "1261258" "1261258" "subst" "0.00337132" "02326" "TPSG1_000177" "g.1261258C>T" "" "" "" "CACNA1H(NM_021098.3):c.4314C>T (p.C1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040755" "0" "50" "16" "1245018" "1245018" "subst" "0" "01804" "TPSG1_000178" "g.1245018A>T" "" "" "" "CACNA1H(NM_021098.3):c.346A>T (p.(Thr116Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040756" "0" "50" "16" "1245474" "1245474" "subst" "0" "01804" "TPSG1_000179" "g.1245474G>C" "" "" "" "CACNA1H(NM_021098.3):c.454G>C (p.(Val152Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040757" "0" "50" "16" "1250424" "1250424" "subst" "0" "01804" "TPSG1_000180" "g.1250424G>T" "" "" "" "CACNA1H(NM_021098.3):c.972G>T (p.(Gln324His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040758" "0" "50" "16" "1251802" "1251802" "subst" "0" "01804" "TPSG1_000181" "g.1251802C>T" "" "" "" "CACNA1H(NM_021098.3):c.1352C>T (p.(Ser451Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040759" "0" "30" "16" "1255133" "1255133" "subst" "1.22328E-5" "01804" "TPSG1_000182" "g.1255133C>T" "" "" "" "CACNA1H(NM_021098.3):c.2471C>T (p.(Ala824Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040760" "0" "30" "16" "1268385" "1268385" "subst" "0.000255854" "01804" "TPSG1_000183" "g.1268385C>T" "" "" "" "CACNA1H(NM_021098.3):c.5621C>T (p.(Ala1874Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040761" "0" "50" "16" "1270419" "1270419" "subst" "0" "01804" "TPSG1_000184" "g.1270419G>A" "" "" "" "CACNA1H(NM_021098.3):c.6487G>A (p.(Gly2163Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040762" "0" "30" "16" "1270782" "1270782" "subst" "6.51015E-5" "01804" "TPSG1_000185" "g.1270782G>A" "" "" "" "CACNA1H(NM_021098.3):c.6850G>A (p.(Gly2284Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040763" "0" "30" "16" "1271928" "1271928" "subst" "2.87212E-5" "01804" "TPSG1_000186" "g.1271928C>T" "" "" "" "TPSG1(NM_012467.4):c.826G>A (p.(Glu276Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055303" "0" "50" "16" "1256294" "1256294" "subst" "0" "01804" "TPSG1_000187" "g.1256294G>A" "" "" "" "CACNA1H(NM_021098.3):c.2789+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055304" "0" "30" "16" "1265346" "1265346" "subst" "4.52798E-5" "01804" "TPSG1_000188" "g.1265346G>A" "" "" "" "CACNA1H(NM_021098.3):c.5144G>A (p.(Arg1715His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055305" "0" "50" "16" "1265585" "1265585" "subst" "0" "01804" "TPSG1_000189" "g.1265585C>G" "" "" "" "CACNA1H(NM_021098.3):c.5236C>G (p.(Leu1746Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055306" "0" "50" "16" "1268968" "1268968" "subst" "6.74737E-6" "01804" "TPSG1_000190" "g.1268968A>G" "" "" "" "CACNA1H(NM_021098.3):c.5888-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055307" "0" "50" "16" "1270329" "1270329" "subst" "0" "01804" "TPSG1_000191" "g.1270329C>T" "" "" "" "CACNA1H(NM_021098.3):c.6397C>T (p.(Arg2133Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066324" "0" "50" "16" "1250315" "1250315" "subst" "" "01804" "chr16_007645" "g.1250315C>T" "" "" "" "CACNA1H(NM_021098.3):c.863C>T (p.(Pro288Leu))" "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 TPSG1 ## Count = 353 "{{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}}" "0000248678" "00021714" "10" "11535" "0" "11535" "0" "c.*10569T>C" "r.(=)" "p.(=)" "" "0000248679" "00021714" "10" "11532" "0" "11532" "0" "c.*10566T>C" "r.(=)" "p.(=)" "" "0000251040" "00021714" "10" "20495" "0" "20495" "0" "c.*19529T>C" "r.(=)" "p.(=)" "" "0000251903" "00021714" "30" "18393" "0" "18393" "0" "c.*17427T>A" "r.(=)" "p.(=)" "" "0000252275" "00021714" "30" "22664" "0" "22664" "0" "c.*21698T>C" "r.(=)" "p.(=)" "" "0000252276" "00021714" "30" "12390" "0" "12390" "0" "c.*11424T>G" "r.(=)" "p.(=)" "" "0000266440" "00021714" "30" "18518" "0" "18518" "0" "c.*17552C>T" "r.(=)" "p.(=)" "" "0000266441" "00021714" "10" "68747" "0" "68747" "0" "c.*67781G>C" "r.(=)" "p.(=)" "" "0000266442" "00021714" "30" "13497" "0" "13497" "0" "c.*12531C>T" "r.(=)" "p.(=)" "" "0000266443" "00021714" "10" "12733" "0" "12733" "0" "c.*11767C>A" "r.(=)" "p.(=)" "" "0000266444" "00021714" "10" "12273" "0" "12273" "0" "c.*11307A>G" "r.(=)" "p.(=)" "" "0000266445" "00021714" "10" "11987" "0" "11987" "0" "c.*11021C>T" "r.(=)" "p.(=)" "" "0000266446" "00021714" "10" "11472" "0" "11472" "0" "c.*10506A>G" "r.(=)" "p.(=)" "" "0000266447" "00021714" "10" "27245" "0" "27245" "0" "c.*26279C>G" "r.(=)" "p.(=)" "" "0000266448" "00021714" "10" "4497" "0" "4497" "0" "c.*3531G>A" "r.(=)" "p.(=)" "" "0000266449" "00021714" "10" "4260" "0" "4260" "0" "c.*3294G>A" "r.(=)" "p.(=)" "" "0000266450" "00021714" "10" "3725" "0" "3725" "0" "c.*2759A>G" "r.(=)" "p.(=)" "" "0000266451" "00021714" "30" "3608" "0" "3608" "0" "c.*2642del" "r.(?)" "p.(=)" "" "0000266452" "00021714" "10" "2592" "0" "2592" "0" "c.*1626C>T" "r.(=)" "p.(=)" "" "0000266453" "00021714" "10" "2405" "0" "2405" "0" "c.*1439A>G" "r.(=)" "p.(=)" "" "0000269576" "00021714" "30" "22234" "0" "22234" "0" "c.*21268G>A" "r.(=)" "p.(=)" "" "0000269577" "00021714" "10" "22046" "0" "22046" "0" "c.*21080G>A" "r.(=)" "p.(=)" "" "0000269578" "00021714" "30" "21923" "0" "21923" "0" "c.*20957C>T" "r.(=)" "p.(=)" "" "0000269579" "00021714" "30" "20994" "0" "20994" "0" "c.*20028C>T" "r.(=)" "p.(=)" "" "0000269580" "00021714" "30" "20640" "0" "20640" "0" "c.*19674G>A" "r.(=)" "p.(=)" "" "0000269581" "00021714" "10" "20636" "0" "20636" "0" "c.*19670G>A" "r.(=)" "p.(=)" "" "0000269582" "00021714" "30" "20480" "0" "20480" "0" "c.*19514C>T" "r.(=)" "p.(=)" "" "0000269583" "00021714" "50" "20451" "0" "20451" "0" "c.*19485G>A" "r.(=)" "p.(=)" "" "0000269584" "00021714" "10" "20338" "0" "20338" "0" "c.*19372G>A" "r.(=)" "p.(=)" "" "0000269585" "00021714" "30" "20237" "0" "20237" "0" "c.*19271C>A" "r.(=)" "p.(=)" "" "0000269586" "00021714" "30" "18690" "0" "18690" "0" "c.*17724G>A" "r.(=)" "p.(=)" "" "0000269587" "00021714" "30" "18492" "0" "18492" "0" "c.*17526G>A" "r.(=)" "p.(=)" "" "0000269588" "00021714" "30" "18482" "0" "18482" "0" "c.*17516G>A" "r.(=)" "p.(=)" "" "0000269589" "00021714" "10" "17671" "0" "17671" "0" "c.*16705G>A" "r.(=)" "p.(=)" "" "0000269590" "00021714" "30" "17552" "0" "17552" "0" "c.*16586C>A" "r.(=)" "p.(=)" "" "0000269591" "00021714" "30" "17380" "0" "17380" "0" "c.*16414C>A" "r.(=)" "p.(=)" "" "0000269592" "00021714" "10" "17477" "0" "17477" "0" "c.*16511G>A" "r.(=)" "p.(=)" "" "0000269593" "00021714" "30" "16738" "0" "16738" "0" "c.*15772G>T" "r.(=)" "p.(=)" "" "0000269594" "00021714" "30" "16495" "0" "16495" "0" "c.*15529G>A" "r.(=)" "p.(=)" "" "0000269595" "00021714" "30" "16457" "0" "16457" "0" "c.*15491G>T" "r.(=)" "p.(=)" "" "0000269596" "00021714" "10" "15662" "0" "15662" "0" "c.*14696G>A" "r.(=)" "p.(=)" "" "0000269597" "00021714" "10" "15420" "0" "15420" "0" "c.*14454G>A" "r.(=)" "p.(=)" "" "0000269598" "00021714" "30" "68682" "0" "68702" "0" "c.*67716_*67736del" "r.(=)" "p.(=)" "" "0000269599" "00021714" "30" "14752" "0" "14752" "0" "c.*13786G>C" "r.(=)" "p.(=)" "" "0000269600" "00021714" "30" "14721" "0" "14721" "0" "c.*13755C>A" "r.(=)" "p.(=)" "" "0000269601" "00021714" "30" "14565" "0" "14565" "0" "c.*13599C>T" "r.(=)" "p.(=)" "" "0000269602" "00021714" "30" "13834" "0" "13834" "0" "c.*12868C>A" "r.(=)" "p.(=)" "" "0000269603" "00021714" "30" "13774" "0" "13774" "0" "c.*12808C>T" "r.(=)" "p.(=)" "" "0000269604" "00021714" "30" "13712" "0" "13712" "0" "c.*12746C>T" "r.(=)" "p.(=)" "" "0000269605" "00021714" "30" "13417" "0" "13417" "0" "c.*12451G>A" "r.(=)" "p.(=)" "" "0000269606" "00021714" "30" "13348" "0" "13348" "0" "c.*12382C>T" "r.(=)" "p.(=)" "" "0000269607" "00021714" "30" "13254" "0" "13254" "0" "c.*12288C>G" "r.(=)" "p.(=)" "" "0000269608" "00021714" "30" "12394" "0" "12394" "0" "c.*11428C>G" "r.(=)" "p.(=)" "" "0000269609" "00021714" "30" "27697" "0" "27697" "0" "c.*26731C>T" "r.(=)" "p.(=)" "" "0000269610" "00021714" "10" "27692" "0" "27692" "0" "c.*26726G>A" "r.(=)" "p.(=)" "" "0000269611" "00021714" "30" "12305" "0" "12305" "0" "c.*11339C>T" "r.(=)" "p.(=)" "" "0000269612" "00021714" "10" "12273" "0" "12273" "0" "c.*11307A>G" "r.(=)" "p.(=)" "" "0000269613" "00021714" "30" "11971" "0" "11971" "0" "c.*11005C>T" "r.(=)" "p.(=)" "" "0000269614" "00021714" "30" "27393" "0" "27393" "0" "c.*26427G>A" "r.(=)" "p.(=)" "" "0000269615" "00021714" "30" "11691" "0" "11691" "0" "c.*10725G>A" "r.(=)" "p.(=)" "" "0000269616" "00021714" "10" "11644" "0" "11644" "0" "c.*10678G>A" "r.(=)" "p.(=)" "" "0000269617" "00021714" "30" "11592" "0" "11592" "0" "c.*10626G>A" "r.(=)" "p.(=)" "" "0000269618" "00021714" "30" "11454" "0" "11454" "0" "c.*10488A>G" "r.(=)" "p.(=)" "" "0000269619" "00021714" "30" "10833" "0" "10833" "0" "c.*9867C>A" "r.(=)" "p.(=)" "" "0000269620" "00021714" "30" "10634" "0" "10634" "0" "c.*9668G>C" "r.(=)" "p.(=)" "" "0000269621" "00021714" "30" "8988" "0" "8988" "0" "c.*8022G>A" "r.(=)" "p.(=)" "" "0000269622" "00021714" "30" "8979" "0" "8979" "0" "c.*8013G>A" "r.(=)" "p.(=)" "" "0000269623" "00021714" "30" "8935" "0" "8935" "0" "c.*7969G>A" "r.(=)" "p.(=)" "" "0000269624" "00021714" "30" "27245" "0" "27245" "0" "c.*26279C>G" "r.(=)" "p.(=)" "" "0000269625" "00021714" "30" "8805" "0" "8805" "0" "c.*7839C>T" "r.(=)" "p.(=)" "" "0000269626" "00021714" "30" "8815" "0" "8815" "0" "c.*7849G>A" "r.(=)" "p.(=)" "" "0000269627" "00021714" "30" "7602" "0" "7602" "0" "c.*6636G>A" "r.(=)" "p.(=)" "" "0000269628" "00021714" "10" "7342" "0" "7342" "0" "c.*6376C>T" "r.(=)" "p.(=)" "" "0000269630" "00021714" "30" "4839" "0" "4839" "0" "c.*3873C>T" "r.(=)" "p.(=)" "" "0000269631" "00021714" "10" "4710" "0" "4710" "0" "c.*3744G>A" "r.(=)" "p.(=)" "" "0000269632" "00021714" "30" "4708" "0" "4708" "0" "c.*3742G>A" "r.(=)" "p.(=)" "" "0000269633" "00021714" "10" "26838" "0" "26838" "0" "c.*25872G>A" "r.(=)" "p.(=)" "" "0000269634" "00021714" "30" "26875" "0" "26875" "0" "c.*25909G>A" "r.(=)" "p.(=)" "" "0000269635" "00021714" "10" "4497" "0" "4497" "0" "c.*3531G>A" "r.(=)" "p.(=)" "" "0000269636" "00021714" "10" "4378" "0" "4378" "0" "c.*3412C>T" "r.(=)" "p.(=)" "" "0000269637" "00021714" "10" "3775" "0" "3775" "0" "c.*2809G>A" "r.(=)" "p.(=)" "" "0000269638" "00021714" "10" "3725" "0" "3725" "0" "c.*2759A>G" "r.(=)" "p.(=)" "" "0000269639" "00021714" "30" "3683" "0" "3683" "0" "c.*2717C>T" "r.(=)" "p.(=)" "" "0000269640" "00021714" "10" "3659" "0" "3659" "0" "c.*2693G>A" "r.(=)" "p.(=)" "" "0000269641" "00021714" "30" "3612" "0" "3612" "0" "c.*2646G>A" "r.(=)" "p.(=)" "" "0000269642" "00021714" "10" "3611" "0" "3611" "0" "c.*2645C>T" "r.(=)" "p.(=)" "" "0000269643" "00021714" "10" "2643" "0" "2643" "0" "c.*1677C>T" "r.(=)" "p.(=)" "" "0000269644" "00021714" "30" "2627" "0" "2627" "0" "c.*1661G>A" "r.(=)" "p.(=)" "" "0000269645" "00021714" "10" "2592" "0" "2592" "0" "c.*1626C>T" "r.(=)" "p.(=)" "" "0000269646" "00021714" "30" "2500" "0" "2500" "0" "c.*1534C>T" "r.(=)" "p.(=)" "" "0000269647" "00021714" "10" "2405" "0" "2405" "0" "c.*1439A>G" "r.(=)" "p.(=)" "" "0000269648" "00021714" "30" "2404" "0" "2404" "0" "c.*1438C>T" "r.(=)" "p.(=)" "" "0000269649" "00021714" "10" "26720" "0" "26720" "0" "c.*25754C>T" "r.(=)" "p.(=)" "" "0000269650" "00021714" "30" "2277" "0" "2277" "0" "c.*1311C>T" "r.(=)" "p.(=)" "" "0000269651" "00021714" "30" "2169" "0" "2169" "0" "c.*1203C>T" "r.(=)" "p.(=)" "" "0000269652" "00021714" "30" "22483" "0" "22483" "0" "c.*21517G>A" "r.(=)" "p.(=)" "" "0000269653" "00021714" "30" "22314" "0" "22314" "0" "c.*21348C>T" "r.(=)" "p.(=)" "" "0000269654" "00021714" "10" "22308" "0" "22308" "0" "c.*21342C>T" "r.(=)" "p.(=)" "" "0000272515" "00021714" "50" "13703" "0" "13703" "0" "c.*12737G>A" "r.(=)" "p.(=)" "" "0000272516" "00021714" "30" "13507" "0" "13507" "0" "c.*12541C>A" "r.(=)" "p.(=)" "" "0000316993" "00021714" "30" "394" "0" "394" "0" "c.394A>C" "r.(?)" "p.(Ser132Arg)" "" "0000324403" "00021714" "50" "20809" "0" "20809" "0" "c.*19843C>T" "r.(=)" "p.(=)" "" "0000324404" "00021714" "50" "14534" "0" "14534" "0" "c.*13568G>A" "r.(=)" "p.(=)" "" "0000324405" "00021714" "50" "12706" "0" "12706" "0" "c.*11740C>T" "r.(=)" "p.(=)" "" "0000324406" "00021714" "50" "12134" "0" "12134" "0" "c.*11168G>A" "r.(=)" "p.(=)" "" "0000324407" "00021714" "50" "8871" "0" "8871" "0" "c.*7905G>C" "r.(=)" "p.(=)" "" "0000324408" "00021714" "10" "7439" "0" "7439" "0" "c.*6473C>T" "r.(=)" "p.(=)" "" "0000324409" "00021714" "30" "4303" "0" "4303" "0" "c.*3337G>A" "r.(=)" "p.(=)" "" "0000339002" "00021714" "30" "13505" "0" "13505" "0" "c.*12539C>T" "r.(=)" "p.(=)" "" "0000348813" "00021714" "50" "26787" "0" "26787" "0" "c.*25821G>A" "r.(=)" "p.(=)" "" "0000369648" "00021714" "70" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Trp)" "" "0000369649" "00021714" "70" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Ser138Phe)" "" "0000369699" "00021714" "70" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Trp)" "" "0000369700" "00021714" "70" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Ser138Phe)" "" "0000369701" "00021714" "70" "224" "0" "224" "0" "c.224C>A" "r.(?)" "p.(Thr75Lys)" "" "0000556506" "00021714" "30" "27641" "0" "27663" "0" "c.*26675_*26697del" "r.(=)" "p.(=)" "" "0000556507" "00021714" "30" "27280" "0" "27280" "0" "c.*26314C>T" "r.(=)" "p.(=)" "" "0000556508" "00021714" "30" "27245" "0" "27245" "0" "c.*26279C>G" "r.(=)" "p.(=)" "" "0000556509" "00021714" "50" "24062" "0" "24062" "0" "c.*23096A>C" "r.(=)" "p.(=)" "" "0000556510" "00021714" "30" "22475" "0" "22475" "0" "c.*21509C>T" "r.(=)" "p.(=)" "" "0000556511" "00021714" "30" "22314" "0" "22314" "0" "c.*21348C>T" "r.(=)" "p.(=)" "" "0000556512" "00021714" "30" "22309" "0" "22309" "0" "c.*21343G>T" "r.(=)" "p.(=)" "" "0000556513" "00021714" "30" "22308" "0" "22308" "0" "c.*21342C>T" "r.(=)" "p.(=)" "" "0000556514" "00021714" "30" "22046" "0" "22046" "0" "c.*21080G>A" "r.(=)" "p.(=)" "" "0000556515" "00021714" "30" "20966" "0" "20966" "0" "c.*20000C>T" "r.(=)" "p.(=)" "" "0000556516" "00021714" "10" "20951" "0" "20951" "0" "c.*19985G>A" "r.(=)" "p.(=)" "" "0000556518" "00021714" "10" "20791" "0" "20791" "0" "c.*19825G>A" "r.(=)" "p.(=)" "" "0000556519" "00021714" "30" "20791" "0" "20791" "0" "c.*19825G>A" "r.(=)" "p.(=)" "" "0000556520" "00021714" "30" "20686" "0" "20686" "0" "c.*19720C>T" "r.(=)" "p.(=)" "" "0000556521" "00021714" "30" "20640" "0" "20640" "0" "c.*19674G>A" "r.(=)" "p.(=)" "" "0000556522" "00021714" "10" "20385" "0" "20385" "0" "c.*19419G>A" "r.(=)" "p.(=)" "" "0000556523" "00021714" "10" "20385" "0" "20385" "0" "c.*19419G>A" "r.(=)" "p.(=)" "" "0000556525" "00021714" "50" "18690" "0" "18690" "0" "c.*17724G>A" "r.(=)" "p.(=)" "" "0000556526" "00021714" "30" "18690" "0" "18690" "0" "c.*17724G>A" "r.(=)" "p.(=)" "" "0000556527" "00021714" "30" "18405" "0" "18405" "0" "c.*17439G>A" "r.(=)" "p.(=)" "" "0000556528" "00021714" "30" "18393" "0" "18393" "0" "c.*17427T>A" "r.(=)" "p.(=)" "" "0000556531" "00021714" "30" "17505" "0" "17505" "0" "c.*16539T>A" "r.(=)" "p.(=)" "" "0000556532" "00021714" "50" "16603" "0" "16603" "0" "c.*15637C>T" "r.(=)" "p.(=)" 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"p.(Glu276Lys)" "" "0001055303" "00021714" "50" "16460" "0" "16460" "0" "c.*15494C>T" "r.(=)" "p.(=)" "" "0001055304" "00021714" "30" "7408" "0" "7408" "0" "c.*6442C>T" "r.(=)" "p.(=)" "" "0001055305" "00021714" "50" "7169" "0" "7169" "0" "c.*6203G>C" "r.(=)" "p.(=)" "" "0001055306" "00021714" "50" "3786" "0" "3786" "0" "c.*2820T>C" "r.(=)" "p.(=)" "" "0001055307" "00021714" "50" "2425" "0" "2425" "0" "c.*1459G>A" "r.(=)" "p.(=)" "" "0001066324" "00021714" "50" "22439" "0" "22439" "0" "c.*21473G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000165872" "0000369648" "0000165872" "0000369649" "0000165905" "0000369699" "0000165905" "0000369700" "0000165906" "0000369701" "0000336197" "0000735348"