### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CACNB2) # 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}}" "CACNB2" "calcium channel, voltage-dependent, beta 2 subunit" "10" "p12" "unknown" "NG_016195.1" "UD_132118937292" "" "http://www.LOVD.nl/CACNB2" "" "1" "1402" "783" "600003" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CACNB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-27 07:46:58" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024101" "CACNB2" "transcript variant 2" "001" "NM_201596.2" "" "NP_963890.2" "" "" "" "-60" "4018" "1983" "18429606" "18830688" "00006" "2016-01-27 06:48:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00118" "BRGDA1" "Brugada syndrome, type 1 (BRGDA-1)" "AD" "601144" "" "" "" "00001" "2013-03-14 10:02:00" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03066" "BRGDA4" "Brugada syndrome, type 4 (BRGDA-4)" "" "611876" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CACNB2" "03066" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00028978" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">66y" "0" "" "" "white" "" "00028998" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "Belgium" ">50y" "0" "" "" "European" "" "00064705" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "15y" "0" "" "" "" "" "00064707" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "22y" "0" "" "" "" "" "00128380" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "69" "00128451" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "217" "00290018" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290019" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290020" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306016" "" "" "" "3" "" "02950" "{PMID:Monasky 2020:32824506}" "3-generation family, 3 affected (2F, M)" "F" "" "Italy" "" "0" "" "" "" "FamPatIII1" "00320301" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "BUG1" "00427684" "" "" "" "1" "" "04400" "" "" "F" "?" "Russian Federation" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00028978" "04170" "00028998" "04170" "00064705" "05166" "00064707" "05166" "00128380" "00198" "00128451" "00198" "00290018" "00198" "00290019" "00198" "00290020" "00198" "00306016" "00118" "00320301" "04172" "00427684" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00118, 00198, 03066, 04170, 04172, 05166 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000053233" "05166" "00064705" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053235" "05166" "00064707" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100596" "00198" "00128380" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100670" "00198" "00128451" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000231862" "00118" "00306016" "02950" "Familial" "38y" "history of syncope, positive ajmaline challenge, EPS inducible ventricular tachycardia/fibrillation, implanted ICD; father (46y) and maternal grandfather (70y) died suddenly, maternal uncle aborted cardiac arrest (36y) diagnosed with BRGDA" "" "" "" "" "" "" "" "" "" "Brugada syndrome type 1" "" "0000242329" "04172" "00320301" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029019" "00028978" "1" "00066" "00066" "2015-01-12 15:50:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000029039" "00028998" "1" "00066" "00066" "2015-01-14 12:27:36" "" "" "SEQ-NG-S" "DNA" "" "" "0000064844" "00064705" "1" "01601" "01601" "2016-05-10 11:18:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000064846" "00064707" "1" "01601" "01601" "2016-05-10 11:23:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000129218" "00128380" "1" "02244" "02244" "2017-09-15 14:57:12" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129289" "00128451" "1" "02244" "02244" "2017-09-15 17:45:00" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000291186" "00290018" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291187" "00290019" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291188" "00290020" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307146" "00306016" "1" "02950" "02950" "2020-07-06 17:39:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000321487" "00320301" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000429005" "00427684" "1" "04400" "04400" "2022-12-11 10:09:35" "00006" "2022-12-12 12:35:22" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000307146" "CACNB2" "0000307146" "SCN5A" "0000321487" "CACNB2" "0000321487" "SCN5A" "0000321487" "TBX5" ## 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 = 195 "{{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}}" "0000052357" "1" "10" "10" "18828181" "18828181" "subst" "0.0014914" "00066" "CACNB2_000001" "g.18828181C>T" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "rs143326262" "0" "" "" "g.18539252C>T" "" "benign" "" "0000052380" "1" "10" "10" "18828595" "18828595" "subst" "4.08233E-6" "00066" "CACNB2_000002" "g.18828595T>C" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "" "0" "" "" "g.18539666T>C" "" "benign" "" "0000096485" "0" "70" "10" "18795447" "18795447" "subst" "0.000986169" "01601" "CACNB2_000004" "g.18795447G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18506518G>C" "" "likely pathogenic" "" "0000096488" "0" "70" "10" "18828553" "18828553" "subst" "0" "01601" "CACNB2_000003" "g.18828553A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18539624A>C" "" "likely pathogenic" "" "0000218446" "0" "50" "10" "18828268" "18828268" "subst" "0" "02244" "CACNB2_000005" "g.18828268C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.18539339C>T" "" "VUS" "" "0000221898" "0" "50" "10" "18828181" "18828181" "subst" "0.0014914" "02244" "CACNB2_000001" "g.18828181C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.18539252C>T" "" "VUS" "" "0000246909" "0" "10" "10" "18789860" "18789860" "subst" "5.69309E-5" "02330" "CACNB2_000011" "g.18789860A>G" "" "" "" "CACNB2(NM_000724.4):c.411A>G (p.Q137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18500931A>G" "" "benign" "" "0000246966" "0" "50" "10" "18690965" "18690965" "subst" "4.07315E-6" "02330" "CACNB2_000073" "g.18690965A>G" "" "" "" "CACNB2(NM_000724.4):c.161A>G (p.K54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18402036A>G" "" "VUS" "" "0000246967" "0" "50" "10" "18429687" "18429687" "subst" "4.84201E-6" "02330" "CACNB2_000053" "g.18429687A>T" "" "" "" "CACNB2(NM_201596.3):c.22A>T (p.K8*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18140758A>T" "" "VUS" "" "0000251880" "0" "30" "10" "18689976" "18689976" "subst" "0" "02326" "CACNB2_000008" "g.18689976A>T" "" "" "" "CACNB2(NM_201570.3):c.16A>T (p.I6F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18401047A>T" "" "likely benign" "" "0000264175" "0" "10" "10" "18629839" "18629839" "subst" "8.12546E-6" "02330" "CACNB2_000007" "g.18629839C>G" "" "" "" "CACNB2(NM_201590.3):c.-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18340910C>G" "" "benign" "" "0000264176" "0" "10" "10" "18828663" "18828663" "subst" "0.781752" "02330" "CACNB2_000040" "g.18828663G>T" "" "" "" "CACNB2(NM_000724.4):c.*10G>T, CACNB2(NM_201590.3):c.*10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539734G>T" "" "benign" "" "0000264177" "0" "10" "10" "18828687" "18828688" "del" "0" "02330" "CACNB2_000044" "g.18828687_18828688del" "" "" "" "CACNB2(NM_000724.4):c.*34_*35delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539758_18539759del" "" "benign" "" "0000264178" "0" "10" "10" "18828688" "18828688" "dup" "0" "02330" "CACNB2_000041" "g.18828688dup" "" "" "" "CACNB2(NM_000724.4):c.*35dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539759dup" "" "benign" "" "0000264179" "0" "10" "10" "18828686" "18828688" "del" "0" "02330" "CACNB2_000045" "g.18828686_18828688del" "" "" "" "CACNB2(NM_000724.4):c.*33_*35delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539757_18539759del" "" "benign" "" "0000264180" "0" "10" "10" "18828685" "18828688" "del" "0" "02330" "CACNB2_000046" "g.18828685_18828688del" "" "" "" "CACNB2(NM_000724.4):c.*32_*35delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539756_18539759del" "" "benign" "" "0000264181" "0" "10" "10" "18828688" "18828688" "del" "0" "02330" "CACNB2_000042" "g.18828688del" "" "" "" "CACNB2(NM_000724.4):c.*35delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539759del" "" "benign" "" "0000264182" "0" "10" "10" "18828670" "18828670" "subst" "0" "02330" "CACNB2_000043" "g.18828670T>C" "" "" "" "CACNB2(NM_000724.4):c.*17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539741T>C" "" "benign" "" "0000264185" "0" "10" "10" "18828671" "18828671" "subst" "0" "02330" "CACNB2_000048" "g.18828671T>C" "" "" "" "CACNB2(NM_000724.4):c.*18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539742T>C" "" "benign" "" "0000264188" "0" "10" "10" "18828672" "18828672" "subst" "0" "02330" "CACNB2_000051" "g.18828672T>C" "" "" "" "CACNB2(NM_000724.4):c.*19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539743T>C" "" "benign" "" "0000264189" "0" "10" "10" "18823162" "18823162" "subst" "0.00148305" "02330" "CACNB2_000021" "g.18823162T>C" "" "" "" "CACNB2(NM_000724.4):c.1041+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18534233T>C" "" "benign" "" "0000264190" "0" "10" "10" "18825116" "18825116" "subst" "0.000345284" "02330" "CACNB2_000022" "g.18825116G>A" "" "" "" "CACNB2(NM_000724.4):c.1128G>A (p.Q376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18536187G>A" "" "benign" "" "0000264191" "0" "50" "10" "18827163" "18827163" "subst" "0.000211161" "02330" "CACNB2_000023" "g.18827163C>T" "" "" "" "CACNB2(NM_000724.4):c.1192C>T (p.L398F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18538234C>T" "" "VUS" "" "0000264192" "0" "10" "10" "18827183" "18827183" "subst" "0" "02330" "CACNB2_000024" "g.18827183C>G" "" "" "" "CACNB2(NM_000724.4):c.1212C>G (p.A404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18538254C>G" "" "benign" "" "0000264193" "0" "30" "10" "18439900" "18439900" "subst" "0.000772684" "02330" "CACNB2_000072" "g.18439900G>A" "" "" "" "CACNB2(NM_201571.4):c.125G>A (p.R42H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18150971G>A" "" "likely benign" "" "0000264195" "0" "10" "10" "18828181" "18828181" "subst" "0.0014914" "02330" "CACNB2_000001" "g.18828181C>T" "" "" "" "CACNB2(NM_000724.4):c.1346C>T (p.T449I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539252C>T" "" "benign" "" "0000264196" "0" "10" "10" "18828188" "18828188" "subst" "0.00241348" "02330" "CACNB2_000027" "g.18828188C>T" "" "" "" "CACNB2(NM_000724.4):c.1353C>T (p.R451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539259C>T" "" "benign" "" "0000264197" "0" "10" "10" "18828191" "18828191" "subst" "0.00474604" "02330" "CACNB2_000028" "g.18828191C>T" "" "" "" "CACNB2(NM_000724.4):c.1356C>T (p.S452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539262C>T" "" "benign" "" "0000264198" "0" "10" "10" "18828230" "18828230" "subst" "0.00084491" "02330" "CACNB2_000029" "g.18828230T>C" "" "" "" "CACNB2(NM_000724.4):c.1395T>C (p.P465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539301T>C" "" "benign" "" "0000264199" "0" "10" "10" "18828371" "18828371" "subst" "0.219619" "02330" "CACNB2_000033" "g.18828371C>T" "" "" "" "CACNB2(NM_000724.4):c.1536C>T (p.Y512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539442C>T" "" "benign" "" "0000264200" "0" "10" "10" "18828455" "18828455" "subst" "0.00198711" "02330" "CACNB2_000034" "g.18828455C>T" "" "" "" "CACNB2(NM_000724.4):c.1620C>T (p.H540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539526C>T" "" "benign" "" "0000264201" "0" "10" "10" "18828464" "18828464" "subst" "0.00752921" "02330" "CACNB2_000035" "g.18828464T>C" "" "" "" "CACNB2(NM_000724.4):c.1629T>C (p.S543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539535T>C" "" "benign" "" "0000264202" "0" "10" "10" "18828486" "18828486" "subst" "0.0090867" "02330" "CACNB2_000036" "g.18828486C>G" "" "" "" "CACNB2(NM_000724.4):c.1651C>G (p.R551G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539557C>G" "" "benign" "" "0000264203" "0" "10" "10" "18787276" "18787276" "subst" "6.90625E-5" "02330" "CACNB2_000009" "g.18787276C>T" "" "" "" "CACNB2(NM_000724.4):c.169-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18498347C>T" "" "benign" "" "0000264205" "0" "30" "10" "18828581" "18828583" "del" "0" "02330" "CACNB2_000038" "g.18828581_18828583del" "" "" "" "CACNB2(NM_000724.4):c.1746_1748delGGA (p.K582_D583delinsN)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539652_18539654del" "" "likely benign" "" "0000264206" "0" "10" "10" "18828635" "18828635" "subst" "0.136677" "02330" "CACNB2_000039" "g.18828635T>G" "" "" "" "CACNB2(NM_000724.4):c.1800T>G (p.D600E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539706T>G" "" "benign" "" "0000264207" "0" "10" "10" "18789724" "18789724" "subst" "0.277879" "02330" "CACNB2_000010" "g.18789724T>G" "" "" "" "CACNB2(NM_000724.4):c.292-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18500795T>G" "" "benign" "" "0000264208" "0" "10" "10" "18430151" "18430151" "subst" "0.000170317" "02330" "CACNB2_000055" "g.18430151C>G" "" "" "" "CACNB2(NM_201571.4):c.36+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18141222C>G" "" "benign" "" "0000264209" "0" "10" "10" "18439802" "18439809" "del" "0" "02330" "CACNB2_000059" "g.18439802_18439809del" "" "" "" "CACNB2(NM_201571.4):c.37-10_37-3delTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18150873_18150880del" "" "benign" "" "0000264213" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000065" "g.18439809_18439810insGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18150880_18150881insGT" "" "benign" "" "0000264220" "0" "10" "10" "18439808" "18439808" "subst" "0" "02330" "CACNB2_000063" "g.18439808T>G" "" "" "" "CACNB2(NM_201571.4):c.37-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18150879T>G" "" "benign" "" "0000264221" "0" "30" "10" "18789874" "18789874" "subst" "0.000508457" "02330" "CACNB2_000012" "g.18789874C>T" "" "" "" "CACNB2(NM_000724.4):c.425C>T (p.S142F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18500945C>T" "" "likely benign" "" "0000264222" "0" "10" "10" "18795389" "18795389" "subst" "0" "02330" "CACNB2_000013" "g.18795389C>T" "" "" "" "CACNB2(NM_000724.4):c.429-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18506460C>T" "" "benign" "" "0000264223" "0" "30" "10" "18795447" "18795447" "subst" "0.000986169" "02330" "CACNB2_000004" "g.18795447G>C" "" "" "" "CACNB2(NM_000724.4):c.476G>C (p.S159T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18506518G>C" "" "likely benign" "" "0000264224" "0" "10" "10" "18550254" "18550254" "subst" "0.00100126" "02330" "CACNB2_000006" "g.18550254T>G" "" "" "" "CACNB2(NM_000724.4):c.48+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18261325T>G" "" "benign" "" "0000264225" "0" "50" "10" "18803444" "18803444" "subst" "0.000243932" "02330" "CACNB2_000014" "g.18803444G>T" "" "" "" "CACNB2(NM_001167945.2):c.591G>T (p.K197N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18514515G>T" "" "VUS" "" "0000264226" "0" "10" "10" "18803951" "18803951" "subst" "0.000727849" "02330" "CACNB2_000015" "g.18803951G>A" "" "" "" "CACNB2(NM_201572.4):c.629G>A (p.G210D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18515022G>A" "" "benign" "" "0000264227" "0" "10" "10" "18807333" "18807333" "subst" "0.00338809" "02330" "CACNB2_000017" "g.18807333G>A" "" "" "" "CACNB2(NM_000724.4):c.708G>A (p.L236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18518404G>A" "" "benign" "" "0000264228" "0" "10" "10" "18816565" "18816565" "subst" "0.00721763" "02330" "CACNB2_000018" "g.18816565G>A" "" "" "" "CACNB2(NM_000724.4):c.828G>A (p.S276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18527636G>A" "" "benign" "" "0000264229" "0" "10" "10" "18816633" "18816633" "subst" "0.221372" "02330" "CACNB2_000019" "g.18816633C>T" "" "" "" "CACNB2(NM_000724.4):c.889+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18527704C>T" "" "benign" "" "0000264230" "0" "50" "10" "18823073" "18823073" "subst" "1.62456E-5" "02330" "CACNB2_000020" "g.18823073G>A" "" "" "" "CACNB2(NM_000724.4):c.958G>A (p.A320T), CACNB2(NM_201571.4):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18534144G>A" "" "VUS" "" "0000266456" "0" "10" "10" "18828663" "18828663" "subst" "0.781752" "02325" "CACNB2_000040" "g.18828663G>T" "" "" "" "CACNB2(NM_000724.4):c.*10G>T, CACNB2(NM_201590.3):c.*10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539734G>T" "" "benign" "" "0000266457" "0" "10" "10" "18789724" "18789724" "subst" "0.277879" "02325" "CACNB2_000010" "g.18789724T>G" "" "" "" "CACNB2(NM_000724.4):c.292-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18500795T>G" "" "benign" "" "0000269670" "0" "10" "10" "18828663" "18828663" "subst" "0.781752" "02326" "CACNB2_000040" "g.18828663G>T" "" "" "" "CACNB2(NM_000724.4):c.*10G>T, CACNB2(NM_201590.3):c.*10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539734G>T" "" "benign" "" "0000269671" "0" "10" "10" "18828688" "18828688" "del" "0" "02326" "CACNB2_000047" "g.18828688del" "" "" "" "CACNB2(NM_000724.4):c.*35delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539759del" "" "benign" "" "0000269673" "0" "50" "10" "18429769" "18429769" "subst" "5.65792E-5" "02326" "CACNB2_000054" "g.18429769T>C" "" "" "" "CACNB2(NM_201596.3):c.104T>C (p.L35P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18140840T>C" "" "VUS" "" "0000269674" "0" "30" "10" "18828181" "18828181" "subst" "0.0014914" "02326" "CACNB2_000001" "g.18828181C>T" "" "" "" "CACNB2(NM_000724.4):c.1346C>T (p.T449I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539252C>T" "" "likely benign" "" "0000269675" "0" "30" "10" "18828188" "18828188" "subst" "0.00241348" "02326" "CACNB2_000027" "g.18828188C>T" "" "" "" "CACNB2(NM_000724.4):c.1353C>T (p.R451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539259C>T" "" "likely benign" "" "0000269676" "0" "10" "10" "18828230" "18828230" "subst" "0.00084491" "02326" "CACNB2_000029" "g.18828230T>C" "" "" "" "CACNB2(NM_000724.4):c.1395T>C (p.P465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539301T>C" "" "benign" "" "0000269677" "0" "50" "10" "18828340" "18828340" "subst" "8.93953E-5" "02326" "CACNB2_000031" "g.18828340C>G" "" "" "" "CACNB2(NM_000724.4):c.1505C>G (p.S502W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539411C>G" "" "VUS" "" "0000269678" "0" "10" "10" "18828455" "18828455" "subst" "0.00198711" "02326" "CACNB2_000034" "g.18828455C>T" "" "" "" "CACNB2(NM_000724.4):c.1620C>T (p.H540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539526C>T" "" "benign" "" "0000269679" "0" "10" "10" "18828486" "18828486" "subst" "0.0090867" "02326" "CACNB2_000036" "g.18828486C>G" "" "" "" "CACNB2(NM_000724.4):c.1651C>G (p.R551G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539557C>G" "" "benign" "" "0000269680" "0" "30" "10" "18787276" "18787276" "subst" "6.90625E-5" "02326" "CACNB2_000009" "g.18787276C>T" "" "" "" "CACNB2(NM_000724.4):c.169-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18498347C>T" "" "likely benign" "" "0000269681" "0" "30" "10" "18430151" "18430151" "subst" "0.000170317" "02326" "CACNB2_000055" "g.18430151C>G" "" "" "" "CACNB2(NM_201571.4):c.36+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18141222C>G" "" "likely benign" "" "0000269682" "0" "30" "10" "18439809" "18439810" "ins" "0" "02326" "CACNB2_000070" "g.18439809_18439810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT" "" "" "" "CACNB2(NM_201571.4):c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18150880_18150881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT" "" "likely benign" "" "0000269683" "0" "30" "10" "18439787" "18439809" "dup" "0" "02326" "CACNB2_000061" "g.18439787_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-25_37-3dupTTTTTTTTTTTTTTTTTTTTTTT, CACNB2(NM_201571.4):c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18150858_18150880dup" "" "likely benign" "" "0000269684" "0" "30" "10" "18439785" "18439809" "dup" "0" "02326" "CACNB2_000060" "g.18439785_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTTTT, CACNB2(NM_201596.3):c.121-27_121-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18150856_18150880dup" "" "likely benign" "" "0000272540" "0" "30" "10" "18828186" "18828186" "subst" "4.46987E-5" "01943" "CACNB2_000026" "g.18828186C>T" "" "" "" "CACNB2(NM_000724.3):c.1351C>T (p.R451C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539257C>T" "" "likely benign" "" "0000272541" "0" "50" "10" "18803963" "18803963" "subst" "4.88027E-5" "01943" "CACNB2_000016" "g.18803963G>A" "" "" "" "CACNB2(NM_201572.3):c.641G>A (p.R214Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18515034G>A" "" "VUS" "" "0000321447" "0" "50" "10" "18828262" "18828262" "subst" "0.000239703" "01804" "CACNB2_000030" "g.18828262G>A" "" "" "" "CACNB2(NM_201596.2):c.1592G>A (p.(Arg531His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539333G>A" "" "VUS" "" "0000321448" "0" "50" "10" "18828364" "18828364" "del" "0" "01804" "CACNB2_000032" "g.18828364del" "" "" "" "CACNB2(NM_201596.2):c.1694delC (p.(Ser565fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18539435del" "" "VUS" "" "0000539635" "0" "10" "10" "18429776" "18429776" "subst" "0.000241231" "02330" "CACNB2_000074" "g.18429776C>A" "" "" "" "CACNB2(NM_201596.3):c.111C>A (p.A37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18140847C>A" "" "benign" "" "0000539636" "0" "10" "10" "18439787" "18439809" "dup" "0" "02330" "CACNB2_000061" "g.18439787_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-25_37-3dupTTTTTTTTTTTTTTTTTTTTTTT, CACNB2(NM_201571.4):c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150858_18150880dup" "" "benign" "" "0000539637" "0" "10" "10" "18439789" "18439809" "dup" "0" "02330" "CACNB2_000075" "g.18439789_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-23_37-3dupTTTTTTTTTTTTTTTTTTTTT, CACNB2(NM_201571.4):c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150860_18150880dup" "" "benign" "" "0000539638" "0" "30" "10" "18439789" "18439809" "dup" "0" "02326" "CACNB2_000075" "g.18439789_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-23_37-3dupTTTTTTTTTTTTTTTTTTTTT, CACNB2(NM_201571.4):c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150860_18150880dup" "" "likely benign" "" "0000539639" "0" "10" "10" "18439791" "18439809" "dup" "0" "02330" "CACNB2_000076" "g.18439791_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-21_37-3dupTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150862_18150880dup" "" "benign" "" "0000539640" "0" "10" "10" "18439792" "18439809" "dup" "0" "02330" "CACNB2_000077" "g.18439792_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-20_37-3dupTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150863_18150880dup" "" "benign" "" "0000539641" "0" "10" "10" "18439793" "18439809" "dup" "0" "02330" "CACNB2_000078" "g.18439793_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-19_37-3dupTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150864_18150880dup" "" "benign" "" "0000539642" "0" "30" "10" "18439795" "18439809" "dup" "0" "02326" "CACNB2_000079" "g.18439795_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-16_37-2dupTTTTTTTTTTTTTTT, CACNB2(NM_201571.4):c.37-17_37-3dupTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150866_18150880dup" "" "likely benign" "" "0000539643" "0" "10" "10" "18439795" "18439809" "dup" "0" "02330" "CACNB2_000079" "g.18439795_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-16_37-2dupTTTTTTTTTTTTTTT, CACNB2(NM_201571.4):c.37-17_37-3dupTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150866_18150880dup" "" "benign" "" "0000539644" "0" "10" "10" "18439796" "18439809" "dup" "0" "02330" "CACNB2_000080" "g.18439796_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-16_37-3dupTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150867_18150880dup" "" "benign" "" "0000539645" "0" "10" "10" "18439797" "18439809" "dup" "0" "02330" "CACNB2_000081" "g.18439797_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-15_37-3dupTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150868_18150880dup" "" "benign" "" "0000539646" "0" "10" "10" "18439798" "18439809" "dup" "0" "02330" "CACNB2_000082" "g.18439798_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-14_37-3dupTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150869_18150880dup" "" "benign" "" "0000539647" "0" "10" "10" "18439799" "18439809" "del" "0" "02330" "CACNB2_000083" "g.18439799_18439809del" "" "" "" "CACNB2(NM_201571.4):c.37-13_37-3delTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150870_18150880del" "" "benign" "" "0000539648" "0" "10" "10" "18439799" "18439809" "dup" "0" "02330" "CACNB2_000084" "g.18439799_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-13_37-3dupTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150870_18150880dup" "" "benign" "" "0000539649" "0" "10" "10" "18439800" "18439809" "dup" "0" "02330" "CACNB2_000085" "g.18439800_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-12_37-3dupTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150871_18150880dup" "" "benign" "" "0000539650" "0" "10" "10" "18439801" "18439809" "dup" "0" "02330" "CACNB2_000086" "g.18439801_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-11_37-3dupTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150872_18150880dup" "" "benign" "" "0000539651" "0" "10" "10" "18439803" "18439809" "del" "0" "02330" "CACNB2_000087" "g.18439803_18439809del" "" "" "" "CACNB2(NM_201571.4):c.37-9_37-3delTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150874_18150880del" "" "benign" "" "0000539652" "0" "30" "10" "18439803" "18439809" "del" "0" "02326" "CACNB2_000087" "g.18439803_18439809del" "" "" "" "CACNB2(NM_201571.4):c.37-9_37-3delTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150874_18150880del" "" "likely benign" "" "0000539653" "0" "10" "10" "18439808" "18439808" "subst" "0" "02327" "CACNB2_000063" "g.18439808T>G" "" "" "" "CACNB2(NM_201571.4):c.37-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150879T>G" "" "benign" "" "0000539654" "0" "10" "10" "18439808" "18439809" "ins" "0" "02330" "CACNB2_000088" "g.18439808_18439809insG" "" "" "" "CACNB2(NM_201571.4):c.37-4_37-3insG, CACNB2(NM_201596.3):c.121-4_121-3insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150879_18150880insG" "" "benign" "" "0000539655" "0" "10" "10" "18439808" "18439809" "ins" "0" "02327" "CACNB2_000088" "g.18439808_18439809insG" "" "" "" "CACNB2(NM_201571.4):c.37-4_37-3insG, CACNB2(NM_201596.3):c.121-4_121-3insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150879_18150880insG" "" "benign" "" "0000539656" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000091" "g.18439809_18439810insTG" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTG" "" "benign" "" "0000539657" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000092" "g.18439809_18439810insTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTGT" "" "benign" "" "0000539658" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000093" "g.18439809_18439810insTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTTGT" "" "benign" "" "0000539659" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000094" "g.18439809_18439810insTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTTTGT" "" "benign" "" "0000539660" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000095" "g.18439809_18439810insTTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-2_37-1insTTTGTT, CACNB2(NM_201571.4):c.37-3_37-2insTTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTTTTGT" "" "benign" "" "0000539661" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000096" "g.18439809_18439810insTTTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTTTTTGT" "" "benign" "" "0000539662" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000097" "g.18439809_18439810insTTTTTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTTTTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTTTTTTTGT" "" "benign" "" "0000539663" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000098" "g.18439809_18439810insTTTTTTTTTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTTTTTTTTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTTTTTTTTTTTGT" "" "benign" "" "0000539664" "0" "30" "10" "18439809" "18439810" "ins" "0" "02326" "CACNB2_000099" "g.18439809_18439810insTTTTTTTTTTTTTTTTTTTTTTTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTTTGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTTTTTTTTTTTTTTTTTTTTTTTTTGT" "" "likely benign" "" "0000539665" "0" "30" "10" "18439809" "18439810" "ins" "0" "02326" "CACNB2_000100" "g.18439809_18439810insTTTTTTTTTTTTTTTTTTTTTTTTTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTTTTTGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880_18150881insTTTTTTTTTTTTTTTTTTTTTTTTTTTGT" "" "likely benign" "" "0000539666" "0" "30" "10" "18439809" "18439809" "del" "0" "02327" "CACNB2_000089" "g.18439809del" "" "" "" "CACNB2(NM_201571.4):c.37-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880del" "" "likely benign" "" "0000539667" "0" "30" "10" "18439809" "18439809" "dup" "0" "02326" "CACNB2_000090" "g.18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150880dup" "" "likely benign" "" "0000539668" "0" "30" "10" "18439899" "18439899" "subst" "8.13306E-6" "02327" "CACNB2_000101" "g.18439899C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150970C>T" "" "likely benign" "" "0000539669" "0" "10" "10" "18439900" "18439900" "subst" "0.000772684" "02327" "CACNB2_000072" "g.18439900G>A" "" "" "" "CACNB2(NM_201571.4):c.125G>A (p.R42H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150971G>A" "" "benign" "" "0000539670" "0" "30" "10" "18439917" "18439917" "subst" "0" "02326" "CACNB2_000102" "g.18439917A>G" "" "" "" "CACNB2(NM_201571.4):c.129+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150988A>G" "" "likely benign" "" "0000539671" "0" "10" "10" "18439926" "18439926" "subst" "0.0926313" "02327" "CACNB2_000103" "g.18439926T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150997T>C" "" "benign" "" "0000539672" "0" "30" "10" "18787277" "18787277" "subst" "4.87472E-5" "02327" "CACNB2_000104" "g.18787277A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18498348A>T" "" "likely benign" "" "0000539673" "0" "10" "10" "18787304" "18787304" "subst" "0.00112124" "02330" "CACNB2_000105" "g.18787304G>A" "" "" "" "CACNB2(NM_000724.3):c.189G>A (p.A63=), CACNB2(NM_000724.4):c.189G>A (p.A63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18498375G>A" "" "benign" "" "0000539674" "0" "30" "10" "18787376" "18787376" "subst" "0.000256018" "02327" "CACNB2_000106" "g.18787376C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18498447C>T" "" "likely benign" "" "0000539675" "0" "10" "10" "18789724" "18789724" "subst" "0.277879" "02327" "CACNB2_000010" "g.18789724T>G" "" "" "" "CACNB2(NM_000724.4):c.292-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18500795T>G" "" "benign" "" "0000539676" "0" "30" "10" "18795389" "18795389" "subst" "0" "02327" "CACNB2_000013" "g.18795389C>T" "" "" "" "CACNB2(NM_000724.4):c.429-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18506460C>T" "" "likely benign" "" "0000539677" "0" "10" "10" "18803205" "18803205" "subst" "0.000292654" "02330" "CACNB2_000107" "g.18803205T>C" "" "" "" "CACNB2(NM_000724.4):c.546T>C (p.N182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18514276T>C" "" "benign" "" "0000539678" "0" "50" "10" "18803448" "18803448" "subst" "4.06494E-6" "02330" "CACNB2_000108" "g.18803448A>C" "" "" "" "CACNB2(NM_001167945.2):c.595A>C (p.K199Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18514519A>C" "" "VUS" "" "0000539679" "0" "30" "10" "18807262" "18807262" "subst" "0.000170936" "02327" "CACNB2_000109" "g.18807262C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18518333C>T" "" "likely benign" "" "0000539680" "0" "10" "10" "18807333" "18807333" "subst" "0.00338809" "02327" "CACNB2_000017" "g.18807333G>A" "" "" "" "CACNB2(NM_000724.4):c.708G>A (p.L236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18518404G>A" "" "benign" "" "0000539681" "0" "30" "10" "18823159" "18823159" "subst" "0.000117819" "02327" "CACNB2_000110" "g.18823159A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18534230A>T" "" "likely benign" "" "0000539682" "0" "10" "10" "18827307" "18827327" "dup" "0" "02330" "CACNB2_000111" "g.18827307_18827327dup" "" "" "" "CACNB2(NM_000724.4):c.1323+13_1323+33dupTTTATATATATCTATATATAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18538378_18538398dup" "" "benign" "" "0000539683" "0" "50" "10" "18828282" "18828282" "subst" "0" "02326" "CACNB2_000112" "g.18828282C>T" "" "" "" "CACNB2(NM_000724.4):c.1447C>T (p.H483Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539353C>T" "" "VUS" "" "0000539684" "0" "30" "10" "18828340" "18828340" "subst" "0.00112963" "02330" "CACNB2_000113" "g.18828340C>T" "" "" "" "CACNB2(NM_000724.4):c.1505C>T (p.S502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539411C>T" "" "likely benign" "" "0000539685" "0" "10" "10" "18828340" "18828340" "subst" "0.00112963" "02326" "CACNB2_000113" "g.18828340C>T" "" "" "" "CACNB2(NM_000724.4):c.1505C>T (p.S502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539411C>T" "" "benign" "" "0000539686" "0" "30" "10" "18828372" "18828372" "subst" "4.47056E-5" "02327" "CACNB2_000114" "g.18828372G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539443G>C" "" "likely benign" "" "0000539687" "0" "50" "10" "18828405" "18828405" "subst" "5.28258E-5" "02330" "CACNB2_000115" "g.18828405G>A" "" "" "" "CACNB2(NM_000724.4):c.1570G>A (p.V524M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539476G>A" "" "VUS" "" "0000539688" "0" "30" "10" "18828405" "18828405" "subst" "5.28258E-5" "02326" "CACNB2_000115" "g.18828405G>A" "" "" "" "CACNB2(NM_000724.4):c.1570G>A (p.V524M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539476G>A" "" "likely benign" "" "0000539689" "0" "30" "10" "18828446" "18828446" "subst" "0.000463189" "02330" "CACNB2_000116" "g.18828446C>A" "" "" "" "CACNB2(NM_000724.4):c.1611C>A (p.D537E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539517C>A" "" "likely benign" "" "0000539690" "0" "50" "10" "18828568" "18828568" "subst" "4.47638E-5" "02330" "CACNB2_000117" "g.18828568G>A" "" "" "" "CACNB2(NM_000724.4):c.1733G>A (p.R578H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539639G>A" "" "VUS" "" "0000539691" "0" "30" "10" "18828577" "18828578" "ins" "0" "02330" "CACNB2_000118" "g.18828577_18828578insGGG" "" "" "" "CACNB2(NM_000724.4):c.1742_1743insGGG (p.E581_K582insG)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539648_18539649insGGG" "" "likely benign" "" "0000539692" "0" "50" "10" "18828605" "18828605" "subst" "5.71251E-5" "02330" "CACNB2_000119" "g.18828605A>C" "" "" "" "CACNB2(NM_000724.4):c.1770A>C (p.K590N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539676A>C" "" "VUS" "" "0000539693" "0" "10" "10" "18828688" "18828688" "del" "0" "02327" "CACNB2_000042" "g.18828688del" "" "" "" "CACNB2(NM_000724.4):c.*35delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539759del" "" "benign" "" "0000612393" "0" "30" "10" "18429719" "18429719" "subst" "0" "02327" "CACNB2_000120" "g.18429719G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18140790G>C" "" "likely benign" "" "0000612394" "0" "10" "10" "18429767" "18429767" "subst" "0.000231657" "02330" "CACNB2_000121" "g.18429767G>T" "" "" "" "CACNB2(NM_201596.3):c.102G>T (p.A34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18140838G>T" "" "benign" "" "0000612395" "0" "30" "10" "18430131" "18430131" "subst" "0" "02327" "CACNB2_000122" "g.18430131A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18141202A>T" "" "likely benign" "" "0000612396" "0" "50" "10" "18439810" "18439810" "subst" "0" "02327" "CACNB2_000123" "g.18439810A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150881A>T" "" "VUS" "" "0000612397" "0" "30" "10" "18439907" "18439907" "subst" "0" "02327" "CACNB2_000124" "g.18439907A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18150978A>G" "" "likely benign" "" "0000612398" "0" "30" "10" "18787304" "18787304" "subst" "0.00112124" "01943" "CACNB2_000105" "g.18787304G>A" "" "" "" "CACNB2(NM_000724.3):c.189G>A (p.A63=), CACNB2(NM_000724.4):c.189G>A (p.A63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18498375G>A" "" "likely benign" "" "0000612399" "0" "30" "10" "18787330" "18787330" "subst" "8.93967E-5" "02327" "CACNB2_000125" "g.18787330C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18498401C>T" "" "likely benign" "" "0000612400" "0" "50" "10" "18789795" "18789795" "subst" "1.21936E-5" "02327" "CACNB2_000126" "g.18789795G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18500866G>A" "" "VUS" "" "0000612401" "0" "30" "10" "18789874" "18789874" "subst" "0.000508457" "02327" "CACNB2_000012" "g.18789874C>T" "" "" "" "CACNB2(NM_000724.4):c.425C>T (p.S142F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18500945C>T" "" "likely benign" "" "0000612402" "0" "50" "10" "18803440" "18803440" "subst" "8.12962E-6" "02327" "CACNB2_000127" "g.18803440C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18514511C>T" "" "VUS" "" "0000612403" "0" "50" "10" "18816530" "18816530" "subst" "0" "02327" "CACNB2_000128" "g.18816530A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18527601A>G" "" "VUS" "" "0000612404" "0" "50" "10" "18823053" "18823053" "subst" "0" "02330" "CACNB2_000129" "g.18823053T>C" "" "" "" "CACNB2(NM_000724.4):c.938T>C (p.L313S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18534124T>C" "" "VUS" "" "0000612405" "0" "50" "10" "18823073" "18823073" "subst" "1.62456E-5" "02327" "CACNB2_000020" "g.18823073G>A" "" "" "" "CACNB2(NM_000724.4):c.958G>A (p.A320T), CACNB2(NM_201571.4):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18534144G>A" "" "VUS" "" "0000612406" "0" "30" "10" "18825083" "18825083" "subst" "2.03107E-5" "02327" "CACNB2_000130" "g.18825083C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18536154C>T" "" "likely benign" "" "0000612407" "0" "50" "10" "18825099" "18825099" "subst" "8.12367E-6" "02327" "CACNB2_000131" "g.18825099G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18536170G>A" "" "VUS" "" "0000612409" "0" "10" "10" "18828191" "18828191" "subst" "0.00474604" "02327" "CACNB2_000028" "g.18828191C>T" "" "" "" "CACNB2(NM_000724.4):c.1356C>T (p.S452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539262C>T" "" "benign" "" "0000612410" "0" "10" "10" "18828446" "18828446" "subst" "0.000463189" "02327" "CACNB2_000116" "g.18828446C>A" "" "" "" "CACNB2(NM_000724.4):c.1611C>A (p.D537E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539517C>A" "" "benign" "" "0000612411" "0" "10" "10" "18828464" "18828464" "subst" "0.00752921" "02327" "CACNB2_000035" "g.18828464T>C" "" "" "" "CACNB2(NM_000724.4):c.1629T>C (p.S543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539535T>C" "" "benign" "" "0000622363" "0" "30" "10" "18828261" "18828261" "subst" "0.000199077" "02330" "CACNB2_000132" "g.18828261C>T" "" "" "" "CACNB2(NM_201571.4):c.1507C>T (p.R503C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539332C>T" "" "likely benign" "" "0000622364" "0" "50" "10" "18828606" "18828606" "subst" "0.000106163" "02330" "CACNB2_000133" "g.18828606C>T" "" "" "" "CACNB2(NM_201571.4):c.1852C>T (p.R618W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18539677C>T" "" "VUS" "" "0000647875" "1" "70" "10" "18827117" "18827117" "subst" "0" "03575" "CACNB2_000134" "g.18827117C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs560020203.1}" "Germline" "" "rs560020203" "0" "" "" "g.18538188C>A" "" "likely pathogenic" "" "0000647876" "1" "50" "10" "18828262" "18828262" "subst" "0.000239703" "03575" "CACNB2_000030" "g.18828262G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs184280124}" "Germline" "" "rs184280124" "0" "" "" "g.18539333G>A" "" "VUS" "" "0000647877" "1" "50" "10" "18828340" "18828340" "subst" "0.00112963" "03575" "CACNB2_000113" "g.18828340C>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; {DB:CLININrs137886839}" "Germline" "" "rs137886839" "0" "" "" "g.18539411C>T" "" "VUS" "" "0000673714" "0" "50" "10" "18828550" "18828550" "subst" "3.25455E-5" "02950" "CACNB2_000135" "g.18828550G>A" "" "{PMID:Monasky 2020:32824506}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000678821" "0" "30" "10" "18439809" "18439810" "ins" "0" "02327" "CACNB2_000092" "g.18439809_18439810insTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678822" "0" "30" "10" "18787276" "18787276" "subst" "6.90625E-5" "02327" "CACNB2_000009" "g.18787276C>T" "" "" "" "CACNB2(NM_000724.4):c.169-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690699" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000136" "g.18439809_18439810insTTTTTTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTTTTTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690700" "0" "30" "10" "18439900" "18439900" "subst" "0.000772684" "02326" "CACNB2_000072" "g.18439900G>A" "" "" "" "CACNB2(NM_201571.4):c.125G>A (p.R42H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690701" "0" "10" "10" "18828687" "18828688" "dup" "0" "02330" "CACNB2_000137" "g.18828687_18828688dup" "" "" "" "CACNB2(NM_201571.4):c.*34_*35dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000704345" "0" "50" "10" "0" "0" "" "0" "00006" "CYP2C9_001038" "g.?" "" "{PMID:Isbister 2020:32931854}" "" "16C>T (Leu6Phe)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000722771" "0" "10" "10" "18430123" "18430123" "subst" "1.36234E-5" "02330" "CACNB2_000138" "g.18430123T>C" "" "" "" "CACNB2(NM_201571.3):c.15T>C (p.S5=), CACNB2(NM_201571.4):c.15T>C (p.S5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722772" "0" "30" "10" "18430123" "18430123" "subst" "1.36234E-5" "01943" "CACNB2_000138" "g.18430123T>C" "" "" "" "CACNB2(NM_201571.3):c.15T>C (p.S5=), CACNB2(NM_201571.4):c.15T>C (p.S5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722773" "0" "10" "10" "18439802" "18439809" "dup" "0" "02330" "CACNB2_000139" "g.18439802_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-10_37-3dupTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722774" "0" "30" "10" "18439809" "18439810" "ins" "0" "02326" "CACNB2_000095" "g.18439809_18439810insTTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-2_37-1insTTTGTT, CACNB2(NM_201571.4):c.37-3_37-2insTTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722775" "0" "10" "10" "18439809" "18439810" "ins" "0" "02330" "CACNB2_000140" "g.18439809_18439810insTTTTTTTTTTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTTTTTTTTTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722776" "0" "50" "10" "18439855" "18439855" "subst" "0" "02330" "CACNB2_000141" "g.18439855C>G" "" "" "" "CACNB2(NM_201571.4):c.80C>G (p.S27C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722777" "0" "30" "10" "18828223" "18828223" "subst" "0.000178716" "02330" "CACNB2_000142" "g.18828223A>C" "" "" "" "CACNB2(NM_201571.4):c.1469A>C (p.E490A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804383" "0" "10" "10" "18439918" "18439918" "subst" "0" "02330" "CACNB2_000143" "g.18439918G>A" "" "" "" "CACNB2(NM_201571.4):c.129+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804384" "0" "30" "10" "18822993" "18822993" "subst" "0.000174702" "02326" "CACNB2_000144" "g.18822993C>T" "" "" "" "CACNB2(NM_000724.4):c.890-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852463" "0" "30" "10" "18429790" "18429790" "subst" "0" "02327" "CACNB2_000145" "g.18429790C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852464" "0" "10" "10" "18439809" "18439810" "ins" "0" "02327" "CACNB2_000094" "g.18439809_18439810insTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852465" "0" "50" "10" "18690965" "18690965" "subst" "4.07315E-6" "02327" "CACNB2_000073" "g.18690965A>G" "" "" "" "CACNB2(NM_000724.4):c.161A>G (p.K54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852466" "0" "50" "10" "18803228" "18803228" "subst" "0" "02327" "CACNB2_000146" "g.18803228C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852467" "0" "30" "10" "18828353" "18828353" "subst" "1.62559E-5" "02327" "CACNB2_000147" "g.18828353G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852468" "0" "30" "10" "18828606" "18828606" "subst" "0.000106163" "02327" "CACNB2_000133" "g.18828606C>T" "" "" "" "CACNB2(NM_201571.4):c.1852C>T (p.R618W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852469" "0" "10" "10" "18828687" "18828688" "del" "0" "02325" "CACNB2_000044" "g.18828687_18828688del" "" "" "" "CACNB2(NM_000724.4):c.*34_*35delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889110" "0" "50" "10" "18787377" "18787377" "subst" "4.06379E-5" "02327" "CACNB2_000148" "g.18787377G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889111" "0" "30" "10" "18789860" "18789860" "subst" "5.69309E-5" "02327" "CACNB2_000011" "g.18789860A>G" "" "" "" "CACNB2(NM_000724.4):c.411A>G (p.Q137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889112" "0" "30" "10" "18795447" "18795447" "subst" "0.000986169" "02327" "CACNB2_000004" "g.18795447G>C" "" "" "" "CACNB2(NM_000724.4):c.476G>C (p.S159T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908415" "0" "70" "10" "18787283" "18787283" "subst" "0" "04400" "CACNB2_000149" "g.18787283G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18498354G>A" "" "likely pathogenic (dominant)" "ACMG" "0000913259" "0" "10" "10" "18429630" "18429630" "subst" "0.00315913" "02325" "CACNB2_000150" "g.18429630G>A" "" "" "" "CACNB2(NM_201571.4):c.-479G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913260" "0" "30" "10" "18439809" "18439809" "del" "0" "02325" "CACNB2_000089" "g.18439809del" "" "" "" "CACNB2(NM_201571.4):c.37-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913261" "0" "50" "10" "18827247" "18827247" "subst" "0" "02325" "CACNB2_000151" "g.18827247G>C" "" "" "" "CACNB2(NM_201590.3):c.1279G>C (p.A427P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929670" "0" "30" "10" "18828378" "18828378" "subst" "4.4702E-5" "02326" "CACNB2_000152" "g.18828378C>G" "" "" "" "CACNB2(NM_201571.4):c.1624C>G (p.P542A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933342" "0" "50" "10" "18429682" "18429682" "del" "4.8546E-6" "03779" "CACNB2_000153" "g.18429682del" "" "" "" "" "" "Unknown" "" "rs786205787" "0" "" "" "" "" "VUS" "" "0000949376" "0" "50" "10" "18823073" "18823073" "subst" "1.62456E-5" "02326" "CACNB2_000020" "g.18823073G>A" "" "" "" "CACNB2(NM_000724.4):c.958G>A (p.A320T), CACNB2(NM_201571.4):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965687" "0" "30" "10" "18439809" "18439810" "ins" "0" "02325" "CACNB2_000093" "g.18439809_18439810insTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965688" "0" "50" "10" "18823118" "18823118" "subst" "1.21858E-5" "02325" "CACNB2_000154" "g.18823118G>A" "" "" "" "CACNB2(NM_201590.3):c.1006G>A (p.A336T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025735" "0" "10" "10" "18439809" "18439810" "ins" "0" "02326" "CACNB2_000094" "g.18439809_18439810insTTTGT" "" "" "" "CACNB2(NM_201571.4):c.37-3_37-2insTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037843" "0" "50" "10" "18429700" "18429700" "subst" "0" "01804" "CACNB2_000155" "g.18429700C>G" "" "" "" "CACNB2(NM_201596.3):c.35C>G (p.(Thr12Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037844" "0" "50" "10" "18439785" "18439809" "dup" "0" "01804" "CACNB2_000060" "g.18439785_18439809dup" "" "" "" "CACNB2(NM_201571.4):c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTTTT, CACNB2(NM_201596.3):c.121-27_121-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037845" "0" "50" "10" "18439788" "18439809" "dup" "0" "01804" "CACNB2_000156" "g.18439788_18439809dup" "" "" "" "CACNB2(NM_201596.3):c.121-24_121-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037847" "0" "30" "10" "18439808" "18439809" "ins" "0" "01804" "CACNB2_000088" "g.18439808_18439809insG" "" "" "" "CACNB2(NM_201571.4):c.37-4_37-3insG, CACNB2(NM_201596.3):c.121-4_121-3insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037848" "0" "50" "10" "18823055" "18823055" "subst" "0" "01804" "CACNB2_000157" "g.18823055C>A" "" "" "" "CACNB2(NM_201596.3):c.1105C>A (p.(Gln369Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053510" "0" "50" "10" "18828324" "18828324" "subst" "0" "01804" "CACNB2_000158" "g.18828324C>T" "" "" "" "CACNB2(NM_201596.3):c.1654C>T (p.(Gln552*))" "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 CACNB2 ## Count = 195 "{{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}}" "0000052357" "00024101" "10" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Thr504Ile)" "14" "0000052380" "00024101" "10" "1925" "0" "1925" "0" "c.1925T>C" "r.(?)" "p.(Ile642Thr)" "14" "0000096485" "00024101" "70" "641" "0" "641" "0" "c.641G>C" "r.(?)" "p.(Ser214Thr)" "6" "0000096488" "00024101" "70" "1883" "0" "1883" "0" "c.1883A>C" "r.(?)" "p.(His628Pro)" "14" "0000218446" "00024101" "50" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Ser533Phe)" "" "0000221898" "00024101" "50" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Thr504Ile)" "" "0000246909" "00024101" "10" "576" "0" "576" "0" "c.576A>G" "r.(?)" "p.(Gln192=)" "" "0000246966" "00024101" "50" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Lys109Arg)" "" "0000246967" "00024101" "50" "22" "0" "22" "0" "c.22A>T" "r.(?)" "p.(Lys8Ter)" "" "0000251880" "00024101" "30" "214" "-877" "214" "-877" "c.214-877A>T" "r.(=)" "p.(=)" "" "0000264175" "00024101" "10" "214" "-61014" "214" "-61014" "c.214-61014C>G" "r.(=)" "p.(=)" "" "0000264176" "00024101" "10" "1993" "0" "1993" "0" "c.*10G>T" "r.(=)" "p.(=)" "" "0000264177" "00024101" "10" "2017" "0" "2018" "0" "c.*34_*35del" "r.(=)" "p.(=)" "" "0000264178" "00024101" "10" "2018" "0" "2018" "0" "c.*35dup" "r.(?)" "p.(=)" "" "0000264179" "00024101" "10" "2016" "0" "2018" "0" "c.*33_*35del" "r.(=)" "p.(=)" "" "0000264180" "00024101" "10" "2015" "0" "2018" "0" "c.*32_*35del" "r.(=)" "p.(=)" "" "0000264181" "00024101" "10" "2018" "0" "2018" "0" "c.*35del" "r.(?)" "p.(=)" "" "0000264182" "00024101" "10" "2000" "0" "2000" "0" "c.*17T>C" "r.(=)" "p.(=)" "" "0000264185" "00024101" "10" "2001" "0" "2001" "0" "c.*18T>C" "r.(=)" "p.(=)" "" "0000264188" "00024101" "10" "2002" "0" "2002" "0" "c.*19T>C" "r.(=)" "p.(=)" "" "0000264189" "00024101" "10" "1206" "6" "1206" "6" "c.1206+6T>C" "r.(=)" "p.(=)" "" "0000264190" "00024101" "10" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Gln431=)" "" "0000264191" "00024101" "50" "1357" "0" "1357" "0" "c.1357C>T" "r.(?)" "p.(Leu453Phe)" "" "0000264192" "00024101" "10" "1377" "0" "1377" "0" "c.1377C>G" "r.(?)" "p.(Ala459=)" "" "0000264193" "00024101" "30" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70His)" "" "0000264195" "00024101" "10" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Thr504Ile)" "" "0000264196" "00024101" "10" "1518" "0" "1518" "0" "c.1518C>T" "r.(?)" "p.(Arg506=)" "" "0000264197" "00024101" "10" "1521" "0" "1521" "0" "c.1521C>T" "r.(?)" "p.(Ser507=)" "" "0000264198" "00024101" "10" "1560" "0" "1560" "0" "c.1560T>C" "r.(?)" "p.(Pro520=)" "" "0000264199" "00024101" "10" "1701" "0" "1701" "0" "c.1701C>T" "r.(?)" "p.(Tyr567=)" "" "0000264200" "00024101" "10" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(His595=)" "" "0000264201" "00024101" "10" "1794" "0" "1794" "0" "c.1794T>C" "r.(?)" "p.(Ser598=)" "" "0000264202" "00024101" "10" "1816" "0" "1816" "0" "c.1816C>G" "r.(?)" "p.(Arg606Gly)" "" "0000264203" "00024101" "10" "334" "-8" "334" "-8" "c.334-8C>T" "r.(=)" "p.(=)" "" "0000264205" "00024101" "30" "1911" "0" "1913" "0" "c.1911_1913del" "r.(?)" "p.(Lys637_Asp638delinsAsn)" "" "0000264206" "00024101" "10" "1965" "0" "1965" "0" "c.1965T>G" "r.(?)" "p.(Asp655Glu)" "" "0000264207" "00024101" "10" "457" "-17" "457" "-17" "c.457-17T>G" "r.(=)" "p.(=)" "" "0000264208" "00024101" "10" "120" "366" "120" "366" "c.120+366C>G" "r.(=)" "p.(=)" "" "0000264209" "00024101" "10" "121" "-10" "121" "-3" "c.121-10_121-3del" "r.spl?" "p.?" "" "0000264213" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insGT" "r.spl?" "p.?" "" "0000264220" "00024101" "10" "121" "-4" "121" "-4" "c.121-4T>G" "r.spl?" "p.?" "" "0000264221" "00024101" "30" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Ser197Phe)" "" "0000264222" "00024101" "10" "594" "-11" "594" "-11" "c.594-11C>T" "r.(=)" "p.(=)" "" "0000264223" "00024101" "30" "641" "0" "641" "0" "c.641G>C" "r.(?)" "p.(Ser214Thr)" "" "0000264224" "00024101" "10" "213" "110350" "213" "110350" "c.213+110350T>G" "r.(=)" "p.(=)" "" "0000264225" "00024101" "50" "804" "146" "804" "146" "c.804+146G>T" "r.(=)" "p.(=)" "" "0000264226" "00024101" "10" "804" "653" "804" "653" "c.804+653G>A" "r.(=)" "p.(=)" "" "0000264227" "00024101" "10" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Leu291=)" "" "0000264228" "00024101" "10" "993" "0" "993" "0" "c.993G>A" "r.(?)" "p.(Ser331=)" "" "0000264229" "00024101" "10" "1054" "7" "1054" "7" "c.1054+7C>T" "r.(=)" "p.(=)" "" "0000264230" "00024101" "50" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Ala375Thr)" "" "0000266456" "00024101" "10" "1993" "0" "1993" "0" "c.*10G>T" "r.(=)" "p.(=)" "" "0000266457" "00024101" "10" "457" "-17" "457" "-17" "c.457-17T>G" "r.(=)" "p.(=)" "" "0000269670" "00024101" "10" "1993" "0" "1993" "0" "c.*10G>T" "r.(=)" "p.(=)" "" "0000269671" "00024101" "10" "2018" "0" "2018" "0" "c.*35del" "r.(?)" "p.(=)" "" "0000269673" "00024101" "50" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Leu35Pro)" "" "0000269674" "00024101" "30" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Thr504Ile)" "" "0000269675" "00024101" "30" "1518" "0" "1518" "0" "c.1518C>T" "r.(?)" "p.(Arg506=)" "" "0000269676" "00024101" "10" "1560" "0" "1560" "0" "c.1560T>C" "r.(?)" "p.(Pro520=)" "" "0000269677" "00024101" "50" "1670" "0" "1670" "0" "c.1670C>G" "r.(?)" "p.(Ser557Trp)" "" "0000269678" "00024101" "10" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(His595=)" "" "0000269679" "00024101" "10" "1816" "0" "1816" "0" "c.1816C>G" "r.(?)" "p.(Arg606Gly)" "" "0000269680" "00024101" "30" "334" "-8" "334" "-8" "c.334-8C>T" "r.(=)" "p.(=)" "" "0000269681" "00024101" "30" "120" "366" "120" "366" "c.120+366C>G" "r.(=)" "p.(=)" "" "0000269682" "00024101" "30" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT" "r.spl?" "p.?" "" "0000269683" "00024101" "30" "121" "-25" "121" "-3" "c.121-25_121-3dup" "r.spl?" "p.?" "" "0000269684" "00024101" "30" "121" "-27" "121" "-3" "c.121-27_121-3dup" "r.spl?" "p.?" "" "0000272540" "00024101" "30" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506Cys)" "" "0000272541" "00024101" "50" "804" "665" "804" "665" "c.804+665G>A" "r.(=)" "p.(=)" "" "0000321447" "00024101" "50" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Arg531His)" "" "0000321448" "00024101" "50" "1694" "0" "1694" "0" "c.1694del" "r.(?)" "p.(Ser565LeufsTer4)" "" "0000539635" "00024101" "10" "111" "0" "111" "0" "c.111C>A" "r.(?)" "p.(Ala37=)" "" "0000539636" "00024101" "10" "121" "-25" "121" "-3" "c.121-25_121-3dup" "r.spl?" "p.?" "" "0000539637" "00024101" "10" "121" "-23" "121" "-3" "c.121-23_121-3dup" "r.spl?" "p.?" "" "0000539638" "00024101" "30" "121" "-23" "121" "-3" "c.121-23_121-3dup" "r.spl?" "p.?" "" "0000539639" "00024101" "10" "121" "-21" "121" "-3" "c.121-21_121-3dup" "r.spl?" "p.?" "" "0000539640" "00024101" "10" "121" "-20" "121" "-3" "c.121-20_121-3dup" "r.spl?" "p.?" "" "0000539641" "00024101" "10" "121" "-19" "121" "-3" "c.121-19_121-3dup" "r.spl?" "p.?" "" "0000539642" "00024101" "30" "121" "-17" "121" "-3" "c.121-17_121-3dup" "r.spl?" "p.?" "" "0000539643" "00024101" "10" "121" "-17" "121" "-3" "c.121-17_121-3dup" "r.spl?" "p.?" "" "0000539644" "00024101" "10" "121" "-16" "121" "-3" "c.121-16_121-3dup" "r.spl?" "p.?" "" "0000539645" "00024101" "10" "121" "-15" "121" "-3" "c.121-15_121-3dup" "r.spl?" "p.?" "" "0000539646" "00024101" "10" "121" "-14" "121" "-3" "c.121-14_121-3dup" "r.spl?" "p.?" "" "0000539647" "00024101" "10" "121" "-13" "121" "-3" "c.121-13_121-3del" "r.spl?" "p.?" "" "0000539648" "00024101" "10" "121" "-13" "121" "-3" "c.121-13_121-3dup" "r.spl?" "p.?" "" "0000539649" "00024101" "10" "121" "-12" "121" "-3" "c.121-12_121-3dup" "r.spl?" "p.?" "" "0000539650" "00024101" "10" "121" "-11" "121" "-3" "c.121-11_121-3dup" "r.spl?" "p.?" "" "0000539651" "00024101" "10" "121" "-9" "121" "-3" "c.121-9_121-3del" "r.spl?" "p.?" "" "0000539652" "00024101" "30" "121" "-9" "121" "-3" "c.121-9_121-3del" "r.spl?" "p.?" "" "0000539653" "00024101" "10" "121" "-4" "121" "-4" "c.121-4T>G" "r.spl?" "p.?" "" "0000539654" "00024101" "10" "121" "-4" "121" "-3" "c.121-4_121-3insG" "r.spl?" "p.?" "" "0000539655" "00024101" "10" "121" "-4" "121" "-3" "c.121-4_121-3insG" "r.spl?" "p.?" "" "0000539656" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTG" "r.spl?" "p.?" "" "0000539657" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTGT" "r.spl?" "p.?" "" "0000539658" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTGT" "r.spl?" "p.?" "" "0000539659" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTTGT" "r.spl?" "p.?" "" "0000539660" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTGT" "r.spl?" "p.?" "" "0000539661" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTTGT" "r.spl?" "p.?" "" "0000539662" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTTTTGT" "r.spl?" "p.?" "" "0000539663" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTTTTTTTTGT" "r.spl?" "p.?" "" "0000539664" "00024101" "30" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTTTTTTTTTTTTTTTTTTTTTTGT" "r.spl?" "p.?" "" "0000539665" "00024101" "30" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTGT" "r.spl?" "p.?" "" "0000539666" "00024101" "30" "121" "-3" "121" "-3" "c.121-3del" "r.spl?" "p.?" "" "0000539667" "00024101" "30" "121" "-3" "121" "-3" "c.121-3dup" "r.spl?" "p.?" "" "0000539668" "00024101" "30" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Cys)" "" "0000539669" "00024101" "10" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70His)" "" "0000539670" "00024101" "30" "213" "13" "213" "13" "c.213+13A>G" "r.(=)" "p.(=)" "" "0000539671" "00024101" "10" "213" "22" "213" "22" "c.213+22T>C" "r.(=)" "p.(=)" "" "0000539672" "00024101" "30" "334" "-7" "334" "-7" "c.334-7A>T" "r.(=)" "p.(=)" "" "0000539673" "00024101" "10" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Ala118=)" "" "0000539674" "00024101" "30" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Phe142=)" "" "0000539675" "00024101" "10" "457" "-17" "457" "-17" "c.457-17T>G" "r.(=)" "p.(=)" "" "0000539676" "00024101" "30" "594" "-11" "594" "-11" "c.594-11C>T" "r.(=)" "p.(=)" "" "0000539677" "00024101" "10" "711" "0" "711" "0" "c.711T>C" "r.(?)" "p.(Asn237=)" "" "0000539678" "00024101" "50" "804" "150" "804" "150" "c.804+150A>C" "r.(=)" "p.(=)" "" "0000539679" "00024101" "30" "805" "-3" "805" "-3" "c.805-3C>T" "r.spl?" "p.?" "" "0000539680" "00024101" "10" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Leu291=)" "" "0000539681" "00024101" "30" "1206" "3" "1206" "3" "c.1206+3A>T" "r.spl?" "p.?" "" "0000539682" "00024101" "10" "1488" "13" "1488" "33" "c.1488+13_1488+33dup" "r.(=)" "p.(=)" "" "0000539683" "00024101" "50" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(His538Tyr)" "" "0000539684" "00024101" "30" "1670" "0" "1670" "0" "c.1670C>T" "r.(?)" "p.(Ser557Leu)" "" "0000539685" "00024101" "10" "1670" "0" "1670" "0" "c.1670C>T" "r.(?)" "p.(Ser557Leu)" "" "0000539686" "00024101" "30" "1702" "0" "1702" "0" "c.1702G>C" "r.(?)" "p.(Val568Leu)" "" "0000539687" "00024101" "50" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Val579Met)" "" "0000539688" "00024101" "30" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Val579Met)" "" "0000539689" "00024101" "30" "1776" "0" "1776" "0" "c.1776C>A" "r.(?)" "p.(Asp592Glu)" "" "0000539690" "00024101" "50" "1898" "0" "1898" "0" "c.1898G>A" "r.(?)" "p.(Arg633His)" "" "0000539691" "00024101" "30" "1907" "0" "1908" "0" "c.1907_1908insGGG" "r.(?)" "p.(Glu636_Lys637insGly)" "" "0000539692" "00024101" "50" "1935" "0" "1935" "0" "c.1935A>C" "r.(?)" "p.(Lys645Asn)" "" "0000539693" "00024101" "10" "2018" "0" "2018" "0" "c.*35del" "r.(?)" "p.(=)" "" "0000612393" "00024101" "30" "54" "0" "54" "0" "c.54G>C" "r.(?)" "p.(Ala18=)" "" "0000612394" "00024101" "10" "102" "0" "102" "0" "c.102G>T" "r.(?)" "p.(Ala34=)" "" "0000612395" "00024101" "30" "120" "346" "120" "346" "c.120+346A>T" "r.(=)" "p.(=)" "" "0000612396" "00024101" "50" "121" "-2" "121" "-2" "c.121-2A>T" "r.spl?" "p.?" "" "0000612397" "00024101" "30" "213" "3" "213" "3" "c.213+3A>G" "r.spl?" "p.?" "" "0000612398" "00024101" "30" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Ala118=)" "" "0000612399" "00024101" "30" "380" "0" "380" "0" "c.380C>T" "r.(?)" "p.(Ala127Val)" "" "0000612400" "00024101" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Gly171Arg)" "" "0000612401" "00024101" "30" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Ser197Phe)" "" "0000612402" "00024101" "50" "804" "142" "804" "142" "c.804+142C>T" "r.(=)" "p.(=)" "" "0000612403" "00024101" "50" "958" "0" "958" "0" "c.958A>G" "r.(?)" "p.(Arg320Gly)" "" "0000612404" "00024101" "50" "1103" "0" "1103" "0" "c.1103T>C" "r.(?)" "p.(Leu368Ser)" "" "0000612405" "00024101" "50" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Ala375Thr)" "" "0000612406" "00024101" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Asn420=)" "" "0000612407" "00024101" "50" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000612409" "00024101" "10" "1521" "0" "1521" "0" "c.1521C>T" "r.(?)" "p.(Ser507=)" "" "0000612410" "00024101" "10" "1776" "0" "1776" "0" "c.1776C>A" "r.(?)" "p.(Asp592Glu)" "" "0000612411" "00024101" "10" "1794" "0" "1794" "0" "c.1794T>C" "r.(?)" "p.(Ser598=)" "" "0000622363" "00024101" "30" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Cys)" "" "0000622364" "00024101" "50" "1936" "0" "1936" "0" "c.1936C>T" "r.(?)" "p.(Arg646Trp)" "" "0000647875" "00024101" "70" "1311" "0" "1311" "0" "c.1311C>A" "r.(?)" "p.(Phe437Leu)" "" "0000647876" "00024101" "50" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Arg531His)" "" "0000647877" "00024101" "50" "1670" "0" "1670" "0" "c.1670C>T" "r.(?)" "p.(Ser557Leu)" "" "0000673714" "00024101" "50" "1880" "0" "1880" "0" "c.1880G>A" "r.(?)" "p.(Arg627His)" "" "0000678821" "00024101" "30" "121" "-3" "121" "-2" "c.121-3_121-2insTGT" "r.spl?" "p.?" "" "0000678822" "00024101" "30" "334" "-8" "334" "-8" "c.334-8C>T" "r.(=)" "p.(=)" "" "0000690699" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTTTTTGT" "r.spl?" "p.?" "" "0000690700" "00024101" "30" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70His)" "" "0000690701" "00024101" "10" "2017" "0" "2018" "0" "c.*34_*35dup" "r.(=)" "p.(=)" "" "0000704345" "00024101" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000722771" "00024101" "10" "120" "338" "120" "338" "c.120+338T>C" "r.(=)" "p.(=)" "" "0000722772" "00024101" "30" "120" "338" "120" "338" "c.120+338T>C" "r.(=)" "p.(=)" "" "0000722773" "00024101" "10" "121" "-10" "121" "-3" "c.121-10_121-3dup" "r.spl?" "p.?" "" "0000722774" "00024101" "30" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTGT" "r.spl?" "p.?" "" "0000722775" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTTTTTTTTTTTGT" "r.spl?" "p.?" "" "0000722776" "00024101" "50" "164" "0" "164" "0" "c.164C>G" "r.(?)" "p.(Ser55Cys)" "" "0000722777" "00024101" "30" "1553" "0" "1553" "0" "c.1553A>C" "r.(?)" "p.(Glu518Ala)" "" "0000804383" "00024101" "10" "213" "14" "213" "14" "c.213+14G>A" "r.(=)" "p.(=)" "" "0000804384" "00024101" "30" "1055" "-12" "1055" "-12" "c.1055-12C>T" "r.(=)" "p.(=)" "" "0000852463" "00024101" "30" "120" "5" "120" "5" "c.120+5C>A" "r.spl?" "p.?" "" "0000852464" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTTGT" "r.spl?" "p.?" "" "0000852465" "00024101" "50" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Lys109Arg)" "" "0000852466" "00024101" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Ser245Phe)" "" "0000852467" "00024101" "30" "1683" "0" "1683" "0" "c.1683G>A" "r.(?)" "p.(Glu561=)" "" "0000852468" "00024101" "30" "1936" "0" "1936" "0" "c.1936C>T" "r.(?)" "p.(Arg646Trp)" "" "0000852469" "00024101" "10" "2017" "0" "2018" "0" "c.*34_*35del" "r.(=)" "p.(=)" "" "0000889110" "00024101" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "" "0000889111" "00024101" "30" "576" "0" "576" "0" "c.576A>G" "r.(?)" "p.(Gln192=)" "" "0000889112" "00024101" "30" "641" "0" "641" "0" "c.641G>C" "r.(?)" "p.(Ser214Thr)" "" "0000908415" "00024101" "70" "334" "-1" "334" "-1" "c.334-1G>A" "r.spl" "p.?" "" "0000913259" "00024101" "10" "-36" "0" "-36" "0" "c.-36G>A" "r.(?)" "p.(=)" "" "0000913260" "00024101" "30" "121" "-3" "121" "-3" "c.121-3del" "r.spl?" "p.?" "" "0000913261" "00024101" "50" "1441" "0" "1441" "0" "c.1441G>C" "r.(?)" "p.(Ala481Pro)" "" "0000929670" "00024101" "30" "1708" "0" "1708" "0" "c.1708C>G" "r.(?)" "p.(Pro570Ala)" "" "0000933342" "00024101" "50" "17" "0" "17" "0" "c.17del" "r.(?)" "p.(Met6SerfsTer21)" "" "0000949376" "00024101" "50" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Ala375Thr)" "" "0000965687" "00024101" "30" "121" "-3" "121" "-2" "c.121-3_121-2insTTGT" "r.spl?" "p.?" "" "0000965688" "00024101" "50" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Ala390Thr)" "" "0001025735" "00024101" "10" "121" "-3" "121" "-2" "c.121-3_121-2insTTTGT" "r.spl?" "p.?" "" "0001037843" "00024101" "50" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Thr12Arg)" "" "0001037844" "00024101" "50" "121" "-27" "121" "-3" "c.121-27_121-3dup" "r.spl?" "p.?" "" "0001037845" "00024101" "50" "121" "-24" "121" "-3" "c.121-24_121-3dup" "r.spl?" "p.?" "" "0001037847" "00024101" "30" "121" "-4" "121" "-3" "c.121-4_121-3insG" "r.spl?" "p.?" "" "0001037848" "00024101" "50" "1105" "0" "1105" "0" "c.1105C>A" "r.(?)" "p.(Gln369Lys)" "" "0001053510" "00024101" "50" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Gln552*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000029019" "0000052357" "0000029039" "0000052380" "0000064844" "0000096485" "0000064846" "0000096488" "0000129218" "0000221898" "0000129289" "0000218446" "0000291186" "0000647875" "0000291187" "0000647876" "0000291188" "0000647877" "0000307146" "0000673714" "0000321487" "0000704345" "0000429005" "0000908415"