### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CACNA1D) # 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}}" "CACNA1D" "calcium channel, voltage-dependent, L type, alpha 1D subunit" "3" "p14.3" "unknown" "NC_000003.11" "UD_132464996070" "" "http://www.LOVD.nl/CACNA1D" "" "1" "1391" "776" "114206" "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/CACNA1D_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2016-06-18 11:06:28" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024146" "CACNA1D" "transcript variant 1" "003" "NM_000720.3" "" "NP_000711.1" "" "" "" "-118" "7605" "6546" "53529076" "53846492" "00006" "2016-06-18 11:05:20" "" "" "00024233" "CACNA1D" "transcript variant 2" "001" "NM_001128840.2" "" "NP_001122312.1" "" "" "" "-118" "7545" "6486" "53529076" "53846492" "00006" "2017-03-05 15:34:18" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03782" "SANDD" "dysfunction, node, sinoatrial and deafness (SANDD)" "AR" "614896" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03960" "PASNA" "aldosteronism, primary, seizures, and neurologic abnormalities (PASNA)" "AD" "615474" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05232" "APA" "adenoma, adrenal aldosterone-producing (APA)" "" "" "" "" "" "00006" "2017-03-05 15:11:47" "00006" "2017-03-05 15:13:07" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CACNA1D" "03782" "CACNA1D" "03960" "CACNA1D" "05232" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00064726" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "27y" "0" "" "" "" "" "00100458" "" "" "" "1" "" "01919" "" "" "M" "no" "Germany" "" "0" "" "" "white" "" "00100607" "" "" "" "4" "" "00006" "{PMID:Baig 2011:21131953}, {DOI:Baig 2011:10.1038/nn.2694}" "4-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "21131953-FamDEM9" "00100608" "" "" "" "3" "" "00006" "{PMID:Baig 2011:21131953}, {DOI:Baig 2011:10.1038/nn.2694}" "6-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents/sibs" "M" "yes" "Pakistan" "" "0" "" "" "" "21131953-FamDEM81" "00100609" "" "" "" "1" "" "00006" "{PMID:Baig 2011:21131953}, {DOI:Baig 2011:10.1038/nn.2694}" "255 healthy control subjects" "F;M" "" "Pakistan" "" "0" "" "" "" "21131953-con" "00100610" "" "" "" "1" "" "00006" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "" "0" "" "" "European" "23913001-FamK1444Pat1" "00100611" "" "" "" "1" "" "00006" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "F" "" "United States" "" "0" "" "" "African American" "23913001-FamK1555Pat1" "00100612" "" "" "" "1" "" "00006" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "" "" "United States" "" "0" "" "" "" "23913001-APA37" "00100613" "" "" "" "1" "" "00006" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "" "" "United States" "" "0" "" "" "" "23913001-APA29" "00100614" "" "" "" "1" "" "00006" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "" "" "United States" "" "0" "" "" "" "23913001-APA31" "00100615" "" "" "" "1" "" "00006" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "" "" "United States" "" "0" "" "" "" "23913001-APA65" "00100616" "" "" "" "1" "" "00006" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "" "" "United States" "" "0" "" "" "" "23913001-APA59" "00180187" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat39" "00282312" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282313" "" "" "" "1" "" "00004" "{PMID:Scholl 2013:23913001}" "" "" "" "" "" "0" "" "" "" "" "00282314" "" "" "" "1" "" "00004" "{PMID:Baig 2011:21131953}" "" "" "" "" "" "0" "" "" "" "" "00282315" "" "" "" "1" "" "00004" "{PMID:Iossifov 2012:22542183}" "" "" "" "" "" "0" "" "" "" "" "00282316" "" "" "" "1" "" "00004" "{PMID:O\'Roak 2012:22495309}, {PMID:Pinggera 2015:25620733}, {PMID:Uddin 2014:24859339}" "" "" "" "" "" "0" "" "" "" "" "00282317" "" "" "" "1" "" "00004" "{PMID:Scholl 2013:23913001}" "" "" "" "" "" "0" "" "" "" "" "00282318" "" "" "" "1" "" "00004" "{PMID:Febbo 2011:22138009}, {PMID:Hampel 2015:25394175}, {PMID:Sturgeon 2008:19042984}, {PMID:Carter 2013:23659877}, {PMID:Evaluation of Genomic Applications in Practice and Prevention (EGAPP Working Group. 2014:24071797}, {PMID:Lindberg 2013:23265383}" "" "" "" "" "" "0" "" "" "" "" "00293447" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293448" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293449" "" "" "" "173" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293450" "" "" "" "123" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304957" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304958" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362025" "" "" "" "1" "" "00006" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "" "" "" "0" "" "" "" "PME_FI_G12" "00407694" "" "" "" "1" "" "00000" "{PMID:Fahim 2012:22183348}" "Ninety-eight affected males from 56 families" "" "" "" "" "0" "" "" "" "?" "00412172" "" "" "" "1" "" "01919" "Török et al., 2022, submitted" "" "" "-" "United States" "" "0" "" "" "" "patient" "00431535" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "251533" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00064726" "05166" "00100458" "00138" "00100607" "03782" "00100608" "03782" "00100609" "00000" "00100610" "03960" "00100611" "03960" "00100612" "05232" "00100613" "05232" "00100614" "05232" "00100615" "05232" "00100616" "05232" "00180187" "00198" "00282313" "00198" "00282314" "05103" "00282315" "00138" "00282316" "00138" "00282317" "00198" "00282318" "00198" "00293447" "00198" "00293448" "00198" "00293449" "00198" "00293450" "00198" "00304957" "00198" "00304958" "00198" "00362025" "04270" "00407694" "04214" "00412172" "03960" "00431535" "03960" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 01157, 03782, 03960, 04214, 04270, 05103, 05166, 05232 ## Count = 23 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000053253" "05166" "00064726" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078819" "03782" "00100608" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital deafness, bradycardia" "" "" "" "" "" "" "" "" "" "" "" "0000078820" "03782" "00100607" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital deafness, bradycardia" "" "" "" "" "" "" "" "" "" "" "" "0000078821" "03960" "00100610" "00006" "Isolated (sporadic)" "03y" "0d-hypertension, biventricular hypertrophy, ventricular septal defect, pulmonary hypertension, second-degree heart block; elevated aldosterone levels, high aldosterone/renin ratio; uncontrolled hypertension, hypokalemia; treatment with calcium channel blocker, amlodipine, normalized blood pressure, and biventricular hypertrophy resolved; seizure disorder, apparent cerebral palsy, cortical blindness, complex neuromuscular abnormalities" "" "" "" "" "" "" "" "" "" "" "" "0000078822" "03960" "00100611" "00006" "Isolated (sporadic)" "10y" "0d-cerebral palsy, spastic quadriplegia, mild athetosis, severe generalized intellectual disability, complex partial and generalized seizures; 5y-markedly hypertensive, persistently elevated blood pressure, polydipsia, hypokalemia, metabolic alkalosis, high serum aldosterone; CT-scan no adrenal abnormality; ECG mild left ventricular hypertrophy" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000078823" "05232" "00100612" "00006" "Isolated (sporadic)" "" "adrenal aldosterone-producing adenomas (APAs)" "" "" "" "" "" "" "" "" "" "" "" "0000078824" "05232" "00100613" "00006" "Isolated (sporadic)" "" "adrenal aldosterone-producing adenomas (APAs)" "" "" "" "" "" "" "" "" "" "" "" "0000078825" "05232" "00100614" "00006" "Isolated (sporadic)" "" "adrenal aldosterone-producing adenomas (APAs)" "" "" "" "" "" "" "" "" "" "" "" "0000078826" "05232" "00100615" "00006" "Isolated (sporadic)" "" "adrenal aldosterone-producing adenomas (APAs)" "" "" "" "" "" "" "" "" "" "" "" "0000078827" "05232" "00100616" "00006" "Isolated (sporadic)" "" "adrenal aldosterone-producing adenomas (APAs)" "" "" "" "" "" "" "" "" "" "" "" "0000142641" "00198" "00180187" "00006" "Familial, autosomal dominant" "" "Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), left ventricular hypertrophy (HP:0001712), horseshoe kidney (HP:0000085), facial dysmorphism (HP:0001999), neuroblastoma (HP:0003006)." "" "" "" "" "" "" "" "" "Primary aldosteronism, seizures, and neurologic abnormalities" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000216403" "00138" "00282315" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Autism" "" "0000216404" "00138" "00282316" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Autism" "" "0000216578" "00198" "00282313" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Primary aldosteronism" "" "0000216579" "00198" "00282317" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Primary aldosteronism" "" "0000216580" "00198" "00282318" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Malignant tumor of prostate" "" "0000218399" "05103" "00282314" "00008" "Unknown" "" "brachycardia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000257439" "04270" "00362025" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy" "" "0000299841" "04214" "00407694" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000304187" "03960" "00412172" "01919" "Isolated (sporadic)" "00y00m28d" "4 week old male infant: no seizures, but severe jittering at birth, episodes of hypoglycemia, pulmonary hypertension and arterial hypertension, elevated plasma aldosterone" "?" "" "" "" "" "" "" "" "" "severe jittering, aldosteronism" "" "0000322105" "03960" "00431535" "01164" "Isolated (sporadic)" "01y" "Hyperkalemia, Pseudohypoaldosteronism, Hypertension" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000064865" "00064726" "1" "01601" "01601" "2016-05-10 12:28:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000100867" "00100458" "1" "01919" "01919" "2017-02-27 17:56:02" "" "" "SEQ-NG" "DNA" "no" "" "0000101023" "00100607" "1" "00006" "00006" "2017-03-05 10:28:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101024" "00100608" "1" "00006" "00006" "2017-03-05 10:36:15" "" "" "SEQ" "DNA" "" "" "0000101025" "00100609" "1" "00006" "00006" "2017-03-05 10:40:28" "" "" "SEQ" "DNA" "" "" "0000101026" "00100610" "1" "00006" "00006" "2017-03-05 14:35:16" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101027" "00100611" "1" "00006" "00006" "2017-03-05 14:41:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101028" "00100612" "1" "00006" "00006" "2017-03-05 15:15:56" "00006" "2017-03-05 15:26:54" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000101029" "00100613" "1" "00006" "00006" "2017-03-05 15:15:56" "00006" "2017-03-05 15:26:16" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000101030" "00100614" "1" "00006" "00006" "2017-03-05 15:15:56" "00006" "2017-03-05 15:31:41" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000101031" "00100615" "1" "00006" "00006" "2017-03-05 15:15:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101032" "00100616" "1" "00006" "00006" "2017-03-05 15:15:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000181090" "00180187" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000283462" "00282312" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283463" "00282313" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283464" "00282314" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283465" "00282315" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283466" "00282316" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283467" "00282317" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283468" "00282318" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000294615" "00293447" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294616" "00293448" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294617" "00293449" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294618" "00293450" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306086" "00304957" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306087" "00304958" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363253" "00362025" "1" "00006" "00006" "2021-04-14 11:32:13" "" "" "SEQ-NG" "DNA" "" "WES" "0000408946" "00407694" "1" "00000" "03840" "2022-04-07 20:30:46" "" "" "SEQp" "DNA" "" "" "0000413445" "00412172" "1" "01919" "01919" "2022-06-22 17:43:01" "00006" "2022-06-23 09:43:04" "SEQ" "DNA" "" "genetic testing potential risk genes" "0000432950" "00431535" "1" "01164" "01164" "2023-02-14 11:30:43" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000101023" "CACNA1D" "0000101024" "CACNA1D" "0000101025" "CACNA1D" "0000101026" "CACNA1D" "0000101027" "CACNA1D" "0000101028" "CACNA1D" "0000101029" "CACNA1D" "0000101030" "CACNA1D" "0000101031" "CACNA1D" "0000101032" "CACNA1D" "0000181090" "CACNA1D" "0000283462" "CACNA1D" "0000283463" "CACNA1D" "0000283464" "CACNA1D" "0000283465" "CACNA1D" "0000283466" "CACNA1D" "0000283467" "CACNA1D" "0000283468" "CACNA1D" "0000408946" "RPGRIP1L" "0000413445" "CACNA1B" "0000432950" "CACNA1D" ## 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 = 279 "{{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}}" "0000003865" "0" "50" "3" "53700550" "53700550" "subst" "0.588412" "00037" "CACNA1D_000005" "g.53700550T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.53666523T>C" "" "VUS" "" "0000003866" "3" "50" "3" "53769479" "53769479" "subst" "0.302954" "00037" "CACNA1D_000003" "g.53769479C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.53735452C>T" "" "VUS" "" "0000011848" "3" "50" "3" "53779580" "53779580" "subst" "0" "00037" "CACNA1D_000004" "g.53779580G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.53745553G>C" "" "VUS" "" "0000011849" "0" "50" "3" "53779825" "53779825" "subst" "0.315774" "00037" "CACNA1D_000001" "g.53779825A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.53745798A>G" "" "VUS" "" "0000011850" "0" "50" "3" "53783332" "53783332" "subst" "4.06138E-6" "00037" "CACNA1D_000002" "g.53783332A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.53749305A>G" "" "VUS" "" "0000096518" "0" "50" "3" "53844069" "53844069" "subst" "0.000101776" "01601" "CACNA1D_000006" "g.53844069G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53810042G>C" "" "VUS" "" "0000163260" "0" "90" "3" "53707824" "53707824" "subst" "0" "01919" "CACNA1D_000007" "g.53707824G>C" "very rare" "Pinggera et al., 2017; https://doi.org/10.1093/hmg/ddx175" "" "g.53707134G>C" "pathogenicity based on ACMG-criteria and functional studies (see Ortner et al., 2020, doi: 10.1007/s00424-020-02418-w" "De novo" "?" "" "0" "" "" "g.53673797G>C" "" "pathogenic" "other" "0000163469" "3" "90" "3" "53707831" "53707832" "ins" "0" "00006" "CACNA1D_000008" "g.53707831_53707832insGGG" "" "{PMID:Baig 2011:21131953}, {DOI:Baig 2011:10.1038/nn.2694}, {OMIM114206:0001}" "" "p.403_404insGly" "" "Germline" "yes" "rs398122827" "0" "" "" "g.53673804_53673805insGGG" "" "pathogenic" "" "0000163470" "3" "90" "3" "53707831" "53707832" "ins" "0" "00006" "CACNA1D_000008" "g.53707831_53707832insGGG" "" "{PMID:Baig 2011:21131953}, {DOI:Baig 2011:10.1038/nn.2694}, {OMIM114206:0001}" "" "p.403_404insGly" "" "Germline" "yes" "rs398122827" "0" "" "" "g.53673804_53673805insGGG" "" "pathogenic" "" "0000163471" "1" "90" "3" "53707831" "53707832" "ins" "0" "00006" "CACNA1D_000008" "g.53707831_53707832insGGG" "1/510 control chromosomes" "{PMID:Baig 2011:21131953}, {DOI:Baig 2011:10.1038/nn.2694}" "" "" "" "Germline" "-" "rs398122827" "0" "" "" "g.53673804_53673805insGGG" "" "pathogenic" "" "0000163472" "0" "90" "3" "53707831" "53707832" "ins" "0" "00006" "CACNA1D_000008" "g.53707831_53707832insGGG" "" "{PMID:Baig 2011:21131953}, {DOI:Baig 2011:10.1038/nn.2694}" "" "" "cDNA expression cloning showed nonconducting calcium channels with abnormal voltage-dependent gating" "In vitro (cloned)" "-" "" "0" "" "" "g.53673804_53673805insGGG" "" "NA" "" "0000163473" "0" "90" "3" "53707831" "53707831" "subst" "0" "00006" "CACNA1D_000009" "g.53707831G>A" "" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}, {OMIM114206:0002}" "" "" "" "De novo" "-" "rs386834264" "0" "" "" "g.53673804G>A" "" "pathogenic" "" "0000163474" "0" "90" "3" "53764497" "53764497" "subst" "0" "00006" "CACNA1D_000010" "g.53764497C>G" "" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}, {OMIM114206:0003}" "" "" "" "De novo" "" "rs41276445" "0" "" "" "g.53730470C>G" "" "pathogenic" "" "0000163475" "0" "90" "3" "53707830" "53707830" "subst" "0" "00006" "CACNA1D_000011" "g.53707830G>C" "" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "" "" "Somatic" "-" "" "0" "" "" "g.53673803G>C" "" "pathogenic" "" "0000163476" "0" "90" "3" "53764497" "53764497" "subst" "0" "00006" "CACNA1D_000010" "g.53764497C>G" "" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "" "" "Somatic" "-" "" "0" "" "" "g.53730470C>G" "" "pathogenic" "" "0000163477" "0" "90" "3" "53707140" "53707140" "subst" "0" "00006" "CACNA1D_000012" "g.53707140G>C" "" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "NM_001128840.2:c.1207G>C (p.Gly403Arg)" "" "Somatic" "-" "" "0" "" "" "g.53673113G>C" "" "pathogenic" "" "0000163478" "0" "90" "3" "53707140" "53707140" "subst" "0" "00006" "CACNA1D_000012" "g.53707140G>C" "" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "" "" "Somatic" "-" "" "0" "" "" "g.53673113G>C" "" "pathogenic" "" "0000163479" "0" "90" "3" "53707140" "53707140" "subst" "0" "00006" "CACNA1D_000012" "g.53707140G>C" "" "{PMID:Scholl 2013:23913001}, {DOI:Scholl 2013:10.1038/ng.2695}" "" "" "" "Somatic" "-" "" "0" "" "" "g.53673113G>C" "" "pathogenic" "" "0000246111" "0" "30" "3" "53787624" "53787624" "subst" "0.000556309" "02330" "CACNA1D_000060" "g.53787624A>G" "" "" "" "CACNA1D(NM_000720.3):c.3761A>G (p.N1254S), CACNA1D(NM_000720.4):c.3761A>G (p.N1254S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53753597A>G" "" "likely benign" "" "0000246135" "0" "10" "3" "53694184" "53694184" "subst" "3.65833E-5" "02330" "CACNA1D_000024" "g.53694184A>G" "" "" "" "CACNA1D(NM_000720.3):c.648A>G (p.Q216=), CACNA1D(NM_000720.4):c.648A>G (p.Q216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53660157A>G" "" "benign" "" "0000246136" "0" "10" "3" "53700373" "53700373" "subst" "0.0051083" "02330" "CACNA1D_000030" "g.53700373A>G" "" "" "" "CACNA1D(NM_000720.4):c.927A>G (p.V309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53666346A>G" "" "benign" "" "0000246137" "0" "10" "3" "53844244" "53844244" "subst" "0.00192675" "02330" "CACNA1D_000096" "g.53844244A>G" "" "" "" "CACNA1D(NM_000720.4):c.6171A>G (p.T2057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53810217A>G" "" "benign" "" "0000246163" "0" "10" "3" "53779776" "53779776" "subst" "0.0726481" "02330" "CACNA1D_000055" "g.53779776A>G" "" "" "" "CACNA1D(NM_000720.4):c.3174+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53745749A>G" "" "benign" "" "0000246195" "0" "50" "3" "53757865" "53757865" "subst" "4.8727E-5" "02330" "CACNA1D_000041" "g.53757865A>T" "" "" "" "CACNA1D(NM_000720.3):c.1999A>T (p.M667L), CACNA1D(NM_000720.4):c.1999A>T (p.M667L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53723838A>T" "" "VUS" "" "0000246197" "0" "50" "3" "53757995" "53757995" "subst" "0.00013818" "02330" "CACNA1D_000044" "g.53757995A>G" "" "" "" "CACNA1D(NM_000720.4):c.2129A>G (p.N710S), CACNA1D(NM_001128840.3):c.2069A>G (p.N690S, p.(Asn690Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53723968A>G" "" "VUS" "" "0000246203" "0" "50" "3" "53700558" "53700558" "subst" "4.07133E-5" "02330" "CACNA1D_000033" "g.53700558A>C" "" "" "" "CACNA1D(NM_000720.4):c.1112A>C (p.Y371S), CACNA1D(NM_001128840.3):c.1112A>C (p.(Tyr371Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53666531A>C" "" "VUS" "" "0000255077" "0" "30" "3" "53699820" "53699820" "subst" "0" "01943" "CACNA1D_000028" "g.53699820A>G" "" "" "" "CACNA1D(NM_000720.3):c.900A>G (p.T300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53665793A>G" "" "likely benign" "" "0000255826" "0" "50" "3" "53787624" "53787624" "subst" "0.000556309" "01943" "CACNA1D_000060" "g.53787624A>G" "" "" "" "CACNA1D(NM_000720.3):c.3761A>G (p.N1254S), CACNA1D(NM_000720.4):c.3761A>G (p.N1254S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53753597A>G" "" "VUS" "" "0000256283" "0" "50" "3" "53529194" "53529194" "subst" "0" "01943" "CACNA1D_000016" "g.53529194A>G" "" "" "" "CACNA1D(NM_000720.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53495167A>G" "" "VUS" "" "0000256455" "0" "50" "3" "53835451" "53835451" "subst" "0" "01943" "CACNA1D_000095" "g.53835451A>T" "" "" "" "CACNA1D(NM_000720.3):c.5467A>T (p.R1823*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53801424A>T" "" "VUS" "" "0000256652" "0" "50" "3" "53836185" "53836185" "subst" "1.62426E-5" "01943" "CACNA1D_000076" "g.53836185A>G" "" "" "" "CACNA1D(NM_000720.3):c.5480A>G (p.Y1827C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53802158A>G" "" "VUS" "" "0000264016" "0" "10" "3" "53529213" "53529215" "del" "0" "02330" "CACNA1D_000015" "g.53529213_53529215del" "" "" "" "CACNA1D(NM_000720.4):c.-1_2delGAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53495186_53495188del" "" "benign" "" "0000264017" "0" "10" "3" "53529175" "53529175" "subst" "0.000598121" "02330" "CACNA1D_000013" "g.53529175G>A" "" "" "" "CACNA1D(NM_000720.4):c.-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53495148G>A" "" "benign" "" "0000264019" "0" "10" "3" "53845442" "53845442" "subst" "6.83671E-5" "02330" "CACNA1D_000094" "g.53845442G>A" "" "" "" "CACNA1D(NM_000720.4):c.*9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53811415G>A" "" "benign" "" "0000264020" "0" "50" "3" "53700453" "53700453" "subst" "4.06167E-6" "02330" "CACNA1D_000032" "g.53700453G>A" "" "" "" "CACNA1D(NM_000720.4):c.1007G>A (p.G336D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53666426G>A" "" "VUS" "" "0000264021" "0" "10" "3" "53700550" "53700550" "subst" "0.588412" "02330" "CACNA1D_000005" "g.53700550T>C" "" "" "" "CACNA1D(NM_000720.4):c.1104T>C (p.D368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53666523T>C" "" "benign" "" "0000264022" "0" "10" "3" "53707853" "53707853" "subst" "0.00931107" "02330" "CACNA1D_000034" "g.53707853C>T" "" "" "" "CACNA1D(NM_000720.4):c.1220+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53673826C>T" "" "benign" "" "0000264023" "0" "10" "3" "53736791" "53736791" "subst" "0.00103955" "02330" "CACNA1D_000035" "g.53736791C>T" "" "" "" "CACNA1D(NM_000720.3):c.1344C>T (p.I448=), CACNA1D(NM_000720.4):c.1344C>T (p.I448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53702764C>T" "" "benign" "" "0000264024" "0" "10" "3" "53736797" "53736797" "subst" "0.00163652" "02330" "CACNA1D_000036" "g.53736797G>A" "" "" "" "CACNA1D(NM_000720.4):c.1350G>A (p.P450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53702770G>A" "" "benign" "" "0000264025" "0" "10" "3" "53756425" "53756425" "subst" "0.000243821" "02330" "CACNA1D_000038" "g.53756425C>T" "" "" "" "CACNA1D(NM_000720.3):c.1650C>T (p.I550=), CACNA1D(NM_000720.4):c.1650C>T (p.I550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53722398C>T" "" "benign" "" "0000264026" "0" "50" "3" "53531283" "53531283" "subst" "2.4374E-5" "02330" "CACNA1D_000017" "g.53531283G>A" "" "" "" "CACNA1D(NM_000720.4):c.172G>A (p.D58N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53497256G>A" "" "VUS" "" "0000264027" "0" "30" "3" "53757498" "53757498" "subst" "5.27872E-5" "02330" "CACNA1D_000039" "g.53757498C>T" "" "" "" "CACNA1D(NM_000720.4):c.1764C>T (p.C588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53723471C>T" "" "likely benign" "" "0000264028" "0" "10" "3" "53757924" "53757924" "subst" "0.00198604" "02330" "CACNA1D_000042" "g.53757924G>A" "" "" "" "CACNA1D(NM_000720.3):c.2058G>A (p.L686=), CACNA1D(NM_000720.4):c.2058G>A (p.L686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53723897G>A" "" "benign" "" "0000264029" "0" "10" "3" "53757945" "53757945" "subst" "3.65536E-5" "02330" "CACNA1D_000043" "g.53757945C>T" "" "" "" "CACNA1D(NM_000720.4):c.2079C>T (p.G693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53723918C>T" "" "benign" "" "0000264030" "0" "10" "3" "53758040" "53758040" "subst" "4.0845E-5" "02330" "CACNA1D_000045" "g.53758040C>G" "" "" "" "CACNA1D(NM_000720.4):c.2160+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53724013C>G" "" "benign" "" "0000264031" "0" "10" "3" "53760941" "53760941" "subst" "2.43641E-5" "02330" "CACNA1D_000046" "g.53760941C>T" "" "" "" "CACNA1D(NM_000720.4):c.2196C>T (p.Y732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53726914C>T" "" "benign" "" "0000264032" "0" "10" "3" "53531333" "53531333" "subst" "0.000402004" "02330" "CACNA1D_000018" "g.53531333C>T" "" "" "" "CACNA1D(NM_000720.4):c.222C>T (p.P74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53497306C>T" "" "benign" "" "0000264033" "0" "50" "3" "53764497" "53764497" "subst" "0.000280196" "02330" "CACNA1D_000047" "g.53764497C>A" "" "" "" "CACNA1D(NM_000720.4):c.2310C>A (p.I770=), CACNA1D(NM_001128840.3):c.2250C>A (p.(Ile750=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53730470C>A" "" "VUS" "" "0000264034" "0" "10" "3" "53765178" "53765178" "subst" "0.000280456" "02330" "CACNA1D_000048" "g.53765178G>A" "" "" "" "CACNA1D(NM_000720.4):c.2466+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53731151G>A" "" "benign" "" "0000264035" "0" "30" "3" "53766103" "53766103" "subst" "0.000182769" "02330" "CACNA1D_000049" "g.53766103G>A" "" "" "" "CACNA1D(NM_000720.4):c.2527G>A (p.V843M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53732076G>A" "" "likely benign" "" "0000264036" "0" "10" "3" "53766930" "53766930" "subst" "0" "02330" "CACNA1D_000050" "g.53766930G>A" "" "" "" "CACNA1D(NM_000720.3):c.2622G>A (p.K874=), CACNA1D(NM_000720.4):c.2622G>A (p.K874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53732903G>A" "" "benign" "" "0000264037" "0" "50" "3" "53766941" "53766941" "subst" "2.43782E-5" "02330" "CACNA1D_000051" "g.53766941C>T" "" "" "" "CACNA1D(NM_000720.4):c.2633C>T (p.A878V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53732914C>T" "" "VUS" "" "0000264038" "0" "10" "3" "53531375" "53531375" "subst" "0.00119786" "02330" "CACNA1D_000019" "g.53531375C>T" "" "" "" "CACNA1D(NM_000720.4):c.264C>T (p.Y88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53497348C>T" "" "benign" "" "0000264039" "0" "30" "3" "53531380" "53531383" "del" "0" "02330" "CACNA1D_000020" "g.53531380_53531383del" "" "" "" "CACNA1D(NM_000720.4):c.269_272delAGAG (p.K90Tfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53497353_53497356del" "" "likely benign" "" "0000264040" "0" "10" "3" "53769479" "53769479" "subst" "0.302954" "02330" "CACNA1D_000003" "g.53769479C>T" "" "" "" "CACNA1D(NM_000720.4):c.2760C>T (p.S920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53735452C>T" "" "benign" "" "0000264041" "0" "10" "3" "53769521" "53769521" "subst" "0.000369759" "02330" "CACNA1D_000052" "g.53769521C>T" "" "" "" "CACNA1D(NM_000720.3):c.2802C>T (p.F934=), CACNA1D(NM_000720.4):c.2802C>T (p.F934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53735494C>T" "" "benign" "" "0000264042" "0" "10" "3" "53774360" "53774360" "subst" "0.000641802" "02330" "CACNA1D_000053" "g.53774360G>C" "" "" "" "CACNA1D(NM_000720.3):c.2865G>C (p.L955=), CACNA1D(NM_000720.4):c.2865G>C (p.L955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53740333G>C" "" "benign" "" "0000264043" "0" "10" "3" "53779689" "53779689" "subst" "2.03034E-5" "02330" "CACNA1D_000054" "g.53779689C>T" "" "" "" "CACNA1D(NM_000720.4):c.3105C>T (p.I1035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53745662C>T" "" "benign" "" "0000264044" "0" "10" "3" "53531423" "53531423" "subst" "7.30911E-5" "02330" "CACNA1D_000021" "g.53531423C>T" "" "" "" "CACNA1D(NM_000720.4):c.312C>T (p.R104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53497396C>T" "" "benign" "" "0000264045" "0" "30" "3" "53779832" "53779832" "subst" "4.06124E-6" "02330" "CACNA1D_000056" "g.53779832T>G" "" "" "" "CACNA1D(NM_000720.4):c.3175-18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53745805T>G" "" "likely benign" "" "0000264046" "0" "50" "3" "53781360" "53781360" "subst" "4.06085E-6" "02330" "CACNA1D_000057" "g.53781360G>A" "" "" "" "CACNA1D(NM_000720.4):c.3259G>A (p.V1087I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53747333G>A" "" "VUS" "" "0000264047" "0" "10" "3" "53781440" "53781440" "subst" "0.00211598" "02330" "CACNA1D_000058" "g.53781440G>A" "" "" "" "CACNA1D(NM_000720.4):c.3339G>A (p.A1113=), CACNA1D(NM_001128840.3):c.3279G>A (p.A1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53747413G>A" "" "benign" "" "0000264048" "0" "10" "3" "53781458" "53781458" "subst" "9.34344E-5" "02330" "CACNA1D_000059" "g.53781458G>A" "" "" "" "CACNA1D(NM_000720.3):c.3357G>A (p.T1119=), CACNA1D(NM_000720.4):c.3357G>A (p.T1119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53747431G>A" "" "benign" "" "0000264049" "0" "10" "3" "53796087" "53796087" "subst" "2.43643E-5" "02330" "CACNA1D_000061" "g.53796087C>T" "" "" "" "CACNA1D(NM_000720.4):c.3909C>T (p.D1303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53762060C>T" "" "benign" "" "0000264050" "0" "30" "3" "53796091" "53796091" "subst" "0.000263957" "02330" "CACNA1D_000062" "g.53796091G>A" "" "" "" "CACNA1D(NM_000720.4):c.3913G>A (p.A1305T), CACNA1D(NM_001128840.3):c.3853G>A (p.A1285T, p.(Ala1285Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53762064G>A" "" "likely benign" "" "0000264051" "0" "30" "3" "53796092" "53796092" "subst" "0.000552271" "02330" "CACNA1D_000063" "g.53796092C>T" "" "" "" "CACNA1D(NM_000720.4):c.3914C>T (p.A1305V), CACNA1D(NM_001128840.3):c.3854C>T (p.A1285V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53762065C>T" "" "likely benign" "" "0000264052" "0" "10" "3" "53796121" "53796121" "subst" "0.00132065" "02330" "CACNA1D_000064" "g.53796121C>G" "" "" "" "CACNA1D(NM_000720.4):c.3930+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53762094C>G" "" "benign" "" "0000264053" "0" "10" "3" "53804021" "53804021" "subst" "0.00527889" "02330" "CACNA1D_000065" "g.53804021C>T" "" "" "" "CACNA1D(NM_000720.3):c.3952C>T (p.P1318S), CACNA1D(NM_000720.4):c.3952C>T (p.P1318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53769994C>T" "" "benign" "" "0000264054" "0" "10" "3" "53804489" "53804489" "subst" "0.0326265" "02330" "CACNA1D_000066" "g.53804489C>T" "" "" "" "CACNA1D(NM_000720.4):c.4014C>T (p.F1338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53770462C>T" "" "benign" "" "0000264055" "0" "10" "3" "53806868" "53806868" "subst" "3.663E-5" "02330" "CACNA1D_000068" "g.53806868G>A" "" "" "" "CACNA1D(NM_000720.4):c.4113G>A (p.P1371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53772841G>A" "" "benign" "" "0000264056" "0" "10" "3" "53814151" "53814151" "subst" "0.0023514" "02330" "CACNA1D_000070" "g.53814151C>T" "" "" "" "CACNA1D(NM_000720.4):c.4746C>T (p.T1582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53780124C>T" "" "benign" "" "0000264057" "0" "10" "3" "53814170" "53814170" "subst" "0.000597192" "02330" "CACNA1D_000071" "g.53814170C>T" "" "" "" "CACNA1D(NM_000720.4):c.4750+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53780143C>T" "" "benign" "" "0000264058" "0" "10" "3" "53820964" "53820964" "subst" "2.84252E-5" "02330" "CACNA1D_000072" "g.53820964C>T" "" "" "" "CACNA1D(NM_000720.4):c.4968C>T (p.T1656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53786937C>T" "" "benign" "" "0000264059" "0" "50" "3" "53835170" "53835170" "subst" "4.06134E-6" "02330" "CACNA1D_000073" "g.53835170G>A" "" "" "" "CACNA1D(NM_000720.4):c.5186G>A (p.R1729H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53801143G>A" "" "VUS" "" "0000264060" "0" "30" "3" "53835340" "53835340" "subst" "0.000219286" "02330" "CACNA1D_000074" "g.53835340G>C" "" "" "" "CACNA1D(NM_000720.3):c.5356G>C (p.A1786P), CACNA1D(NM_000720.4):c.5356G>C (p.A1786P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53801313G>C" "" "likely benign" "" "0000264061" "0" "30" "3" "53835422" "53835422" "subst" "0.000329073" "02330" "CACNA1D_000075" "g.53835422G>A" "" "" "" "CACNA1D(NM_000720.4):c.5438G>A (p.R1813Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53801395G>A" "" "likely benign" "" "0000264062" "0" "10" "3" "53684868" "53684868" "subst" "2.84366E-5" "02330" "CACNA1D_000022" "g.53684868G>A" "" "" "" "CACNA1D(NM_000720.4):c.546G>A (p.A182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53650841G>A" "" "benign" "" "0000264063" "0" "50" "3" "53837496" "53837496" "subst" "0" "02330" "CACNA1D_000077" "g.53837496C>G" "" "" "" "CACNA1D(NM_000720.4):c.5542C>G (p.P1848A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53803469C>G" "" "VUS" "" "0000264064" "0" "10" "3" "53837510" "53837510" "subst" "0.000929896" "02330" "CACNA1D_000078" "g.53837510C>T" "" "" "" "CACNA1D(NM_000720.3):c.5556C>T (p.G1852=), CACNA1D(NM_000720.4):c.5556C>T (p.G1852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53803483C>T" "" "benign" "" "0000264065" "0" "10" "3" "53837619" "53837619" "subst" "0.0934939" "02330" "CACNA1D_000080" "g.53837619G>T" "" "" "" "CACNA1D(NM_000720.4):c.5645+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53803592G>T" "" "benign" "" "0000264066" "0" "10" "3" "53839067" "53839067" "subst" "6.90305E-5" "02330" "CACNA1D_000082" "g.53839067C>T" "" "" "" "CACNA1D(NM_000720.4):c.5703C>T (p.P1901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53805040C>T" "" "benign" "" "0000264067" "0" "30" "3" "53842693" "53842695" "del" "0" "02330" "CACNA1D_000084" "g.53842693_53842695del" "" "" "" "CACNA1D(NM_000720.3):c.5827_5829delTTC (p.F1943del), CACNA1D(NM_000720.4):c.5827_5829delTTC (p.F1943del), CACNA1D(NM_001128840.3):c.5767_5769delTTC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53808666_53808668del" "" "likely benign" "" "0000264068" "0" "50" "3" "53844069" "53844069" "subst" "0.000101776" "02330" "CACNA1D_000006" "g.53844069G>C" "" "" "" "CACNA1D(NM_000720.4):c.5996G>C (p.R1999P), CACNA1D(NM_001128840.3):c.5936G>C (p.(Arg1979Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53810042G>C" "" "VUS" "" "0000264069" "0" "10" "3" "53844184" "53844184" "subst" "0.0302686" "02330" "CACNA1D_000086" "g.53844184G>A" "" "" "" "CACNA1D(NM_000720.4):c.6111G>A (p.P2037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53810157G>A" "" "benign" "" "0000264070" "0" "50" "3" "53844189" "53844189" "subst" "0" "02330" "CACNA1D_000087" "g.53844189T>G" "" "" "" "CACNA1D(NM_000720.4):c.6116T>G (p.L2039R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53810162T>G" "" "VUS" "" "0000264071" "0" "30" "3" "53844290" "53844290" "subst" "2.44198E-5" "02330" "CACNA1D_000088" "g.53844290G>A" "" "" "" "CACNA1D(NM_000720.4):c.6217G>A (p.D2073N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53810263G>A" "" "likely benign" "" "0000264072" "0" "10" "3" "53684953" "53684953" "subst" "4.06286E-6" "02330" "CACNA1D_000023" "g.53684953T>A" "" "" "" "CACNA1D(NM_000720.4):c.623+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53650926T>A" "" "benign" "" "0000264073" "0" "50" "3" "53844317" "53844317" "subst" "0" "02330" "CACNA1D_000089" "g.53844317G>A" "" "" "" "CACNA1D(NM_000720.4):c.6244G>A (p.V2082M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53810290G>A" "" "VUS" "" "0000264074" "0" "50" "3" "53845281" "53845281" "subst" "0" "02330" "CACNA1D_000090" "g.53845281C>T" "" "" "" "CACNA1D(NM_000720.4):c.6394C>T (p.R2132C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53811254C>T" "" "VUS" "" "0000264075" "0" "30" "3" "53845288" "53845288" "subst" "0.000113802" "02330" "CACNA1D_000091" "g.53845288G>T" "" "" "" "CACNA1D(NM_000720.4):c.6401G>T (p.R2134L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53811261G>T" "" "likely benign" "" "0000264076" "0" "10" "3" "53845295" "53845295" "subst" "0.132411" "02330" "CACNA1D_000092" "g.53845295C>T" "" "" "" "CACNA1D(NM_000720.4):c.6408C>T (p.N2136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53811268C>T" "" "benign" "" "0000264077" "0" "10" "3" "53845340" "53845340" "subst" "0.0020113" "02330" "CACNA1D_000093" "g.53845340G>A" "" "" "" "CACNA1D(NM_000720.4):c.6453G>A (p.Q2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53811313G>A" "" "benign" "" "0000264078" "0" "10" "3" "53694298" "53694298" "subst" "0" "02330" "CACNA1D_000025" "g.53694298G>A" "" "" "" "CACNA1D(NM_000720.4):c.762G>A (p.V254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53660271G>A" "" "benign" "" "0000264080" "0" "10" "3" "53699766" "53699766" "subst" "2.43988E-5" "02330" "CACNA1D_000027" "g.53699766C>T" "" "" "" "CACNA1D(NM_000720.4):c.846C>T (p.I282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53665739C>T" "" "benign" "" "0000264081" "0" "10" "3" "53700349" "53700349" "subst" "1.22147E-5" "02330" "CACNA1D_000029" "g.53700349G>C" "" "" "" "CACNA1D(NM_000720.4):c.920-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53666322G>C" "" "benign" "" "0000264082" "0" "10" "3" "53700400" "53700400" "subst" "0.00422851" "02330" "CACNA1D_000031" "g.53700400G>A" "" "" "" "CACNA1D(NM_000720.3):c.954G>A (p.A318=), CACNA1D(NM_000720.4):c.954G>A (p.A318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53666373G>A" "" "benign" "" "0000266435" "0" "10" "3" "53700550" "53700550" "subst" "0.588412" "02325" "CACNA1D_000005" "g.53700550T>C" "" "" "" "CACNA1D(NM_000720.4):c.1104T>C (p.D368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53666523T>C" "" "benign" "" "0000266436" "0" "10" "3" "53769479" "53769479" "subst" "0.302954" "02325" "CACNA1D_000003" "g.53769479C>T" "" "" "" "CACNA1D(NM_000720.4):c.2760C>T (p.S920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53735452C>T" "" "benign" "" "0000272471" "0" "30" "3" "53756425" "53756425" "subst" "0.000243821" "01943" "CACNA1D_000038" "g.53756425C>T" "" "" "" "CACNA1D(NM_000720.3):c.1650C>T (p.I550=), CACNA1D(NM_000720.4):c.1650C>T (p.I550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53722398C>T" "" "likely benign" "" "0000272472" "0" "30" "3" "53757505" "53757505" "subst" "0" "01943" "CACNA1D_000040" "g.53757505C>T" "" "" "" "CACNA1D(NM_000720.3):c.1771C>T (p.L591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53723478C>T" "" "likely benign" "" "0000272473" "0" "30" "3" "53757924" "53757924" "subst" "0.00198604" "01943" "CACNA1D_000042" "g.53757924G>A" "" "" "" "CACNA1D(NM_000720.3):c.2058G>A (p.L686=), CACNA1D(NM_000720.4):c.2058G>A (p.L686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53723897G>A" "" "likely benign" "" "0000272474" "0" "30" "3" "53781440" "53781440" "subst" "0.00211598" "01943" "CACNA1D_000058" "g.53781440G>A" "" "" "" "CACNA1D(NM_000720.4):c.3339G>A (p.A1113=), CACNA1D(NM_001128840.3):c.3279G>A (p.A1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53747413G>A" "" "likely benign" "" "0000272475" "0" "30" "3" "53804021" "53804021" "subst" "0.00527889" "01943" "CACNA1D_000065" "g.53804021C>T" "" "" "" "CACNA1D(NM_000720.3):c.3952C>T (p.P1318S), CACNA1D(NM_000720.4):c.3952C>T (p.P1318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53769994C>T" "" "likely benign" "" "0000272476" "0" "50" "3" "53804531" "53804531" "subst" "6.09112E-5" "01943" "CACNA1D_000067" "g.53804531G>C" "" "" "" "CACNA1D(NM_000720.3):c.4056G>C (p.R1352S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53770504G>C" "" "VUS" "" "0000272477" "0" "30" "3" "53814136" "53814136" "subst" "0.000125885" "01943" "CACNA1D_000069" "g.53814136T>C" "" "" "" "CACNA1D(NM_000720.3):c.4731T>C (p.A1577=), CACNA1D(NM_000720.4):c.4731T>C (p.A1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53780109T>C" "" "likely benign" "" "0000272478" "0" "30" "3" "53837510" "53837510" "subst" "0.000929896" "01943" "CACNA1D_000078" "g.53837510C>T" "" "" "" "CACNA1D(NM_000720.3):c.5556C>T (p.G1852=), CACNA1D(NM_000720.4):c.5556C>T (p.G1852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53803483C>T" "" "likely benign" "" "0000272479" "0" "30" "3" "53839127" "53839127" "subst" "0" "01943" "CACNA1D_000083" "g.53839127T>C" "" "" "" "CACNA1D(NM_000720.3):c.5763T>C (p.D1921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53805100T>C" "" "likely benign" "" "0000272480" "0" "30" "3" "53842693" "53842695" "del" "0" "01943" "CACNA1D_000084" "g.53842693_53842695del" "" "" "" "CACNA1D(NM_000720.3):c.5827_5829delTTC (p.F1943del), CACNA1D(NM_000720.4):c.5827_5829delTTC (p.F1943del), CACNA1D(NM_001128840.3):c.5767_5769delTTC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53808666_53808668del" "" "likely benign" "" "0000272481" "0" "30" "3" "53700400" "53700400" "subst" "0.00422851" "01943" "CACNA1D_000031" "g.53700400G>A" "" "" "" "CACNA1D(NM_000720.3):c.954G>A (p.A318=), CACNA1D(NM_000720.4):c.954G>A (p.A318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53666373G>A" "" "likely benign" "" "0000329458" "0" "30" "3" "53837602" "53837602" "subst" "0" "01804" "CACNA1D_000079" "g.53837602G>A" "" "" "" "CACNA1D(NM_000720.2):c.5645+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53803575G>A" "" "likely benign" "" "0000329459" "0" "50" "3" "53839037" "53839037" "subst" "0" "01804" "CACNA1D_000081" "g.53839037C>A" "" "" "" "CACNA1D(NM_000720.2):c.5673C>A (p.(Tyr1891Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53805010C>A" "" "VUS" "" "0000329460" "0" "50" "3" "53844054" "53844054" "subst" "3.2611E-5" "01804" "CACNA1D_000085" "g.53844054C>T" "" "" "" "CACNA1D(NM_000720.2):c.5981C>T (p.(Pro1994Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53810027C>T" "" "VUS" "" "0000404726" "1" "70" "3" "53752723" "53752723" "subst" "0" "00006" "CACNA1D_000097" "g.53752723G>T" "" "{PMID:Tumienė 2018:29286531}" "" "" "no segregation analysis performed" "Germline" "" "" "0" "" "" "g.53718696G>T" "" "likely pathogenic" "ACMG" "0000520412" "0" "30" "3" "53529213" "53529215" "dup" "0" "02330" "CACNA1D_000098" "g.53529213_53529215dup" "" "" "" "CACNA1D(NM_000720.4):c.-2_-1insGAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53495186_53495188dup" "" "likely benign" "" "0000520413" "0" "30" "3" "53694184" "53694184" "subst" "3.65833E-5" "01943" "CACNA1D_000024" "g.53694184A>G" "" "" "" "CACNA1D(NM_000720.3):c.648A>G (p.Q216=), CACNA1D(NM_000720.4):c.648A>G (p.Q216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53660157A>G" "" "likely benign" "" "0000520414" "0" "50" "3" "53694184" "53694184" "subst" "3.65833E-5" "02327" "CACNA1D_000024" "g.53694184A>G" "" "" "" "CACNA1D(NM_000720.3):c.648A>G (p.Q216=), CACNA1D(NM_000720.4):c.648A>G (p.Q216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53660157A>G" "" "VUS" "" "0000520415" "0" "50" "3" "53694223" "53694223" "subst" "1.62505E-5" "01943" "CACNA1D_000099" "g.53694223C>T" "" "" "" "CACNA1D(NM_000720.3):c.687C>T (p.G229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53660196C>T" "" "VUS" "" "0000520416" "0" "10" "3" "53694259" "53694259" "subst" "9.74968E-5" "02330" "CACNA1D_000100" "g.53694259C>T" "" "" "" "CACNA1D(NM_000720.4):c.723C>T (p.A241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53660232C>T" "" "benign" "" "0000520417" "0" "10" "3" "53699675" "53699675" "dup" "0" "02330" "CACNA1D_000101" "g.53699675dup" "" "" "" "CACNA1D(NM_000720.4):c.767-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53665648dup" "" "benign" "" "0000520418" "0" "30" "3" "53707145" "53707145" "subst" "6.51483E-6" "01943" "CACNA1D_000102" "g.53707145A>G" "" "" "" "CACNA1D(NM_001128840.3):c.1212A>G (p.V404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53673118A>G" "" "likely benign" "" "0000520419" "0" "30" "3" "53736791" "53736791" "subst" "0.00103955" "01943" "CACNA1D_000035" "g.53736791C>T" "" "" "" "CACNA1D(NM_000720.3):c.1344C>T (p.I448=), CACNA1D(NM_000720.4):c.1344C>T (p.I448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53702764C>T" "" "likely benign" "" "0000520420" "0" "50" "3" "53736832" "53736832" "subst" "5.6887E-5" "01943" "CACNA1D_000103" "g.53736832G>A" "" "" "" "CACNA1D(NM_000720.3):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53702805G>A" "" "VUS" "" "0000520421" "0" "10" "3" "53752344" "53752344" "subst" "0.000499695" "02330" "CACNA1D_000104" "g.53752344C>T" "" "" "" "CACNA1D(NM_000720.4):c.1407C>T (p.S469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53718317C>T" "" "benign" "" "0000520422" "0" "50" "3" "53757599" "53757599" "subst" "1.62426E-5" "02330" "CACNA1D_000105" "g.53757599C>T" "" "" "" "CACNA1D(NM_000720.4):c.1865C>T (p.T622M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53723572C>T" "" "VUS" "" "0000520423" "0" "50" "3" "53757865" "53757865" "subst" "4.8727E-5" "01943" "CACNA1D_000041" "g.53757865A>T" "" "" "" "CACNA1D(NM_000720.3):c.1999A>T (p.M667L), CACNA1D(NM_000720.4):c.1999A>T (p.M667L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53723838A>T" "" "VUS" "" "0000520424" "0" "50" "3" "53764495" "53764495" "subst" "0" "02327" "CACNA1D_000106" "g.53764495A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53730468A>G" "" "VUS" "" "0000520425" "0" "10" "3" "53766026" "53766026" "subst" "0.888521" "02330" "CACNA1D_000107" "g.53766026T>C" "" "" "" "CACNA1D(NM_000720.4):c.2467-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53731999T>C" "" "benign" "" "0000520426" "0" "10" "3" "53766026" "53766026" "subst" "0.888521" "02325" "CACNA1D_000107" "g.53766026T>C" "" "" "" "CACNA1D(NM_000720.4):c.2467-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53731999T>C" "" "benign" "" "0000520427" "0" "50" "3" "53766050" "53766050" "subst" "0.000129953" "01943" "CACNA1D_000108" "g.53766050T>C" "" "" "" "CACNA1D(NM_000720.3):c.2474T>C (p.I825T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53732023T>C" "" "VUS" "" "0000520428" "0" "30" "3" "53766930" "53766930" "subst" "0" "01943" "CACNA1D_000050" "g.53766930G>A" "" "" "" "CACNA1D(NM_000720.3):c.2622G>A (p.K874=), CACNA1D(NM_000720.4):c.2622G>A (p.K874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53732903G>A" "" "likely benign" "" "0000520429" "0" "10" "3" "53769385" "53769385" "subst" "1.62501E-5" "02330" "CACNA1D_000109" "g.53769385C>T" "" "" "" "CACNA1D(NM_000720.4):c.2682-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53735358C>T" "" "benign" "" "0000520430" "0" "50" "3" "53769430" "53769430" "subst" "1.21822E-5" "02330" "CACNA1D_000110" "g.53769430A>G" "" "" "" "CACNA1D(NM_000720.4):c.2711A>G (p.N904S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53735403A>G" "" "VUS" "" "0000520431" "0" "30" "3" "53769508" "53769508" "subst" "0.000468009" "02330" "CACNA1D_000111" "g.53769508G>A" "" "" "" "CACNA1D(NM_000720.4):c.2789G>A (p.R930H), CACNA1D(NM_001128840.3):c.2729G>A (p.R910H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53735481G>A" "" "likely benign" "" "0000520432" "0" "30" "3" "53769521" "53769521" "subst" "0.000369759" "01943" "CACNA1D_000052" "g.53769521C>T" "" "" "" "CACNA1D(NM_000720.3):c.2802C>T (p.F934=), CACNA1D(NM_000720.4):c.2802C>T (p.F934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53735494C>T" "" "likely benign" "" "0000520433" "0" "30" "3" "53774321" "53774321" "subst" "0" "01804" "CACNA1D_000112" "g.53774321T>G" "" "" "" "CACNA1D(NM_000720.2):c.2826T>G (p.(Phe942Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53740294T>G" "" "likely benign" "" "0000520434" "0" "10" "3" "53774360" "53774360" "subst" "0.000641802" "01943" "CACNA1D_000053" "g.53774360G>C" "" "" "" "CACNA1D(NM_000720.3):c.2865G>C (p.L955=), CACNA1D(NM_000720.4):c.2865G>C (p.L955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53740333G>C" "" "benign" "" "0000520435" "0" "10" "3" "53781440" "53781440" "subst" "0.000109657" "02330" "CACNA1D_000113" "g.53781440G>T" "" "" "" "CACNA1D(NM_000720.4):c.3339G>T (p.A1113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53747413G>T" "" "benign" "" "0000520436" "0" "10" "3" "53781458" "53781458" "subst" "9.34344E-5" "01943" "CACNA1D_000059" "g.53781458G>A" "" "" "" "CACNA1D(NM_000720.3):c.3357G>A (p.T1119=), CACNA1D(NM_000720.4):c.3357G>A (p.T1119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53747431G>A" "" "benign" "" "0000520437" "0" "50" "3" "53783314" "53783314" "subst" "1.62513E-5" "02330" "CACNA1D_000114" "g.53783314G>A" "" "" "" "CACNA1D(NM_000720.4):c.3394G>A (p.D1132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53749287G>A" "" "VUS" "" "0000520438" "0" "50" "3" "53785830" "53785830" "subst" "4.06085E-6" "02325" "CACNA1D_000115" "g.53785830A>C" "" "" "" "CACNA1D(NM_000720.4):c.3631A>C (p.K1211Q), CACNA1D(NM_001128840.2):c.3571A>C (p.(Lys1191Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53751803A>C" "" "VUS" "" "0000520439" "0" "30" "3" "53787671" "53787671" "subst" "4.06068E-5" "01804" "CACNA1D_000116" "g.53787671G>A" "" "" "" "CACNA1D(NM_000720.2):c.3808G>A (p.(Val1270Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53753644G>A" "" "likely benign" "" "0000520440" "0" "50" "3" "53809938" "53809940" "del" "0" "02330" "CACNA1D_000117" "g.53809938_53809940del" "" "" "" "CACNA1D(NM_000720.4):c.4288_4290delGAG (p.E1430del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53775911_53775913del" "" "VUS" "" "0000520441" "0" "10" "3" "53814133" "53814133" "subst" "1.62441E-5" "02330" "CACNA1D_000118" "g.53814133G>A" "" "" "" "CACNA1D(NM_000720.4):c.4728G>A (p.T1576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53780106G>A" "" "benign" "" "0000520442" "0" "10" "3" "53814136" "53814136" "subst" "0.000125885" "02330" "CACNA1D_000069" "g.53814136T>C" "" "" "" "CACNA1D(NM_000720.3):c.4731T>C (p.A1577=), CACNA1D(NM_000720.4):c.4731T>C (p.A1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53780109T>C" "" "benign" "" "0000520443" "0" "30" "3" "53834369" "53834369" "subst" "0.000446671" "01804" "CACNA1D_000119" "g.53834369G>A" "" "" "" "CACNA1D(NM_000720.2):c.5077G>A (p.(Glu1693Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53800342G>A" "" "likely benign" "" "0000520444" "0" "50" "3" "53835116" "53835116" "subst" "0" "02330" "CACNA1D_000120" "g.53835116A>T" "" "" "" "CACNA1D(NM_000720.4):c.5132A>T (p.N1711I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53801089A>T" "" "VUS" "" "0000520445" "0" "30" "3" "53835299" "53835299" "subst" "0.000840548" "01943" "CACNA1D_000121" "g.53835299C>T" "" "" "" "CACNA1D(NM_000720.3):c.5315C>T (p.T1772I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53801272C>T" "" "likely benign" "" "0000520446" "0" "30" "3" "53835340" "53835340" "subst" "0.000219286" "01943" "CACNA1D_000074" "g.53835340G>C" "" "" "" "CACNA1D(NM_000720.3):c.5356G>C (p.A1786P), CACNA1D(NM_000720.4):c.5356G>C (p.A1786P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53801313G>C" "" "likely benign" "" "0000520448" "0" "10" "3" "53839188" "53839188" "subst" "0" "02330" "CACNA1D_000123" "g.53839188T>C" "" "" "" "CACNA1D(NM_000720.4):c.5809+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53805161T>C" "" "benign" "" "0000520449" "0" "50" "3" "53842681" "53842681" "subst" "1.65562E-5" "01943" "CACNA1D_000124" "g.53842681C>T" "" "" "" "CACNA1D(NM_000720.3):c.5815C>T (p.R1939W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53808654C>T" "" "VUS" "" "0000520450" "0" "50" "3" "53842714" "53842714" "subst" "8.23784E-6" "02330" "CACNA1D_000125" "g.53842714C>T" "" "" "" "CACNA1D(NM_000720.4):c.5848C>T (p.R1950W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53808687C>T" "" "VUS" "" "0000520452" "0" "30" "3" "53844069" "53844069" "subst" "0.000146557" "02330" "CACNA1D_000127" "g.53844069G>A" "" "" "" "CACNA1D(NM_000720.4):c.5996G>A (p.R1999Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53810042G>A" "" "likely benign" "" "0000520453" "0" "30" "3" "53844126" "53844126" "subst" "0.000235815" "02330" "CACNA1D_000128" "g.53844126C>A" "" "" "" "CACNA1D(NM_000720.3):c.6053C>A (p.T2018N), CACNA1D(NM_000720.4):c.6053C>A (p.T2018N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53810099C>A" "" "likely benign" "" "0000520454" "0" "50" "3" "53844126" "53844126" "subst" "0.000235815" "01943" "CACNA1D_000128" "g.53844126C>A" "" "" "" "CACNA1D(NM_000720.3):c.6053C>A (p.T2018N), CACNA1D(NM_000720.4):c.6053C>A (p.T2018N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53810099C>A" "" "VUS" "" "0000520455" "0" "50" "3" "53845320" "53845320" "subst" "2.84523E-5" "02330" "CACNA1D_000129" "g.53845320C>T" "" "" "" "CACNA1D(NM_000720.4):c.6433C>T (p.R2145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53811293C>T" "" "VUS" "" "0000520456" "0" "10" "3" "53845391" "53845391" "subst" "0.000277911" "02330" "CHDH_000003" "g.53845391G>A" "" "" "" "CACNA1D(NM_000720.4):c.6504G>A (p.E2168=), CACNA1D(NM_001128840.3):c.6444G>A (p.E2148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53811364G>A" "" "benign" "" "0000608817" "0" "30" "3" "53531171" "53531171" "subst" "0.000217895" "02327" "CACNA1D_000130" "g.53531171C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53497144C>T" "" "likely benign" "" "0000608818" "0" "50" "3" "53531299" "53531299" "subst" "4.06121E-6" "02327" "CACNA1D_000131" "g.53531299C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53497272C>T" "" "VUS" "" "0000608819" "0" "30" "3" "53535635" "53535635" "subst" "0" "01804" "CACNA1D_000132" "g.53535635T>A" "" "" "" "CACNA1D(NM_000720.2):c.378-7T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53501608T>A" "" "likely benign" "" "0000608820" "0" "30" "3" "53684802" "53684802" "subst" "4.0626E-6" "02327" "CACNA1D_000133" "g.53684802A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53650775A>G" "" "likely benign" "" "0000608821" "0" "30" "3" "53694181" "53694181" "subst" "8.94309E-5" "02327" "CACNA1D_000134" "g.53694181A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53660154A>G" "" "likely benign" "" "0000608822" "0" "30" "3" "53736798" "53736798" "subst" "0.000138068" "02327" "CACNA1D_000135" "g.53736798G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53702771G>C" "" "likely benign" "" "0000608823" "0" "50" "3" "53756472" "53756472" "subst" "0.000105574" "02330" "CACNA1D_000137" "g.53756472A>G" "" "" "" "CACNA1D(NM_000720.4):c.1697A>G (p.N566S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53722445A>G" "" "VUS" "" "0000608824" "0" "30" "3" "53765178" "53765178" "subst" "0.000280456" "02327" "CACNA1D_000048" "g.53765178G>A" "" "" "" "CACNA1D(NM_000720.4):c.2466+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53731151G>A" "" "likely benign" "" "0000608825" "0" "50" "3" "53769508" "53769508" "subst" "0.000468009" "01943" "CACNA1D_000111" "g.53769508G>A" "" "" "" "CACNA1D(NM_000720.4):c.2789G>A (p.R930H), CACNA1D(NM_001128840.3):c.2729G>A (p.R910H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53735481G>A" "" "VUS" "" "0000608826" "0" "50" "3" "53783353" "53783353" "subst" "0" "02325" "CACNA1D_000138" "g.53783353C>T" "" "" "" "CACNA1D(NM_000720.4):c.3433C>T (p.R1145C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53749326C>T" "" "VUS" "" "0000608829" "0" "30" "3" "53839113" "53839113" "subst" "8.12189E-6" "02327" "CACNA1D_000140" "g.53839113C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53805086C>G" "" "likely benign" "" "0000608830" "0" "30" "3" "53844019" "53844019" "subst" "4.50226E-5" "02327" "CACNA1D_000141" "g.53844019C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53809992C>T" "" "likely benign" "" "0000608831" "0" "30" "3" "53844159" "53844159" "subst" "0" "01943" "CACNA1D_000142" "g.53844159T>A" "" "" "" "CACNA1D(NM_000720.3):c.6086T>A (p.L2029Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53810132T>A" "" "likely benign" "" "0000621306" "0" "50" "3" "53752710" "53752710" "subst" "0.000121303" "02330" "CACNA1D_000136" "g.53752710T>C" "" "" "" "CACNA1D(NM_000720.4):c.1480T>C (p.C494R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53718683T>C" "" "VUS" "" "0000621307" "0" "30" "3" "53769508" "53769508" "subst" "0.000468009" "02325" "CACNA1D_000111" "g.53769508G>A" "" "" "" "CACNA1D(NM_000720.4):c.2789G>A (p.R930H), CACNA1D(NM_001128840.3):c.2729G>A (p.R910H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53735481G>A" "" "likely benign" "" "0000639204" "1" "77" "3" "53707140" "53707140" "subst" "0" "00004" "CACNA1D_000012" "g.53707140G>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.53673113G>C" "" "likely pathogenic" "" "0000639205" "1" "99" "3" "53707831" "53707831" "subst" "0" "00004" "CACNA1D_000009" "g.53707831G>A" "" "{DB:DVD}, {PMID:Scholl 2013:23913001}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.53673804G>A" "" "pathogenic" "" "0000639206" "1" "99" "3" "53707831" "53707832" "ins" "0" "00004" "CACNA1D_000008" "g.53707831_53707832insGGG" "" "{DB:DVD}, {PMID:Baig 2011:21131953}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.53673804_53673805insGGG" "" "pathogenic" "" "0000639207" "1" "99" "3" "53707842" "53707842" "subst" "0" "00004" "CACNA1D_000143" "g.53707842G>A" "" "{DB:DVD}, {PMID:Iossifov 2012:22542183}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.53673815G>A" "" "pathogenic" "" "0000639208" "1" "77" "3" "53764493" "53764493" "subst" "0" "00004" "CACNA1D_000144" "g.53764493C>G" "" "{DB:DVD}, {PMID:O\'Roak 2012:22495309}, {PMID:Pinggera 2015:25620733}, {PMID:Uddin 2014:24859339}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.53730466C>G" "" "likely pathogenic" "" "0000639209" "1" "99" "3" "53764497" "53764497" "subst" "0" "00004" "CACNA1D_000010" "g.53764497C>G" "" "{DB:DVD}, {PMID:Scholl 2013:23913001}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.53730470C>G" "" "pathogenic" "" "0000639210" "1" "55" "3" "53783463" "53783463" "del" "0" "00004" "CACNA1D_000145" "g.53783463del" "" "{DB:DVD}, {PMID:Febbo 2011:22138009}, {PMID:Hampel 2015:25394175}, {PMID:Sturgeon 2008:19042984}, {PMID:Carter 2013:23659877}, {PMID:Evaluation of Genomic Applications in Practice and Prevention (EGAPP Working Group. 2014:24071797}, {PMID:Lindberg 2013:23265383}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.53749436del" "" "VUS" "" "0000651304" "1" "30" "3" "53766920" "53766920" "subst" "0.00071891" "03575" "CACNA1D_000146" "g.53766920T>G" "15/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs186968009}" "Germline" "" "rs186968009" "0" "" "" "g.53732893T>G" "" "likely benign" "" "0000651305" "1" "50" "3" "53769508" "53769508" "subst" "0.000468009" "03575" "CACNA1D_000111" "g.53769508G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs115066564}" "Germline" "" "rs115066564" "0" "" "" "g.53735481G>A" "" "VUS" "" "0000651306" "1" "10" "3" "53804489" "53804489" "subst" "0.0326265" "03575" "CACNA1D_000066" "g.53804489C>T" "173/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "173 heterozygous; {DB:CLININrs17053501}" "Germline" "" "rs17053501" "0" "" "" "g.53770462C>T" "" "benign" "" "0000651307" "1" "10" "3" "53844184" "53844184" "subst" "0.0302686" "03575" "CACNA1D_000086" "g.53844184G>A" "123/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "123 heterozygous; {DB:CLININrs34388124}" "Germline" "" "rs34388124" "0" "" "" "g.53810157G>A" "" "benign" "" "0000655005" "0" "10" "3" "53774383" "53774383" "subst" "0" "02330" "CACNA1D_000147" "g.53774383G>C" "" "" "" "CACNA1D(NM_001128840.3):c.2811+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53740356G>C" "" "benign" "" "0000655006" "0" "10" "3" "53837433" "53837433" "subst" "9.74865E-5" "02330" "CACNA1D_000148" "g.53837433C>T" "" "" "" "CACNA1D(NM_001128840.3):c.5436-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53803406C>T" "" "benign" "" "0000669774" "3" "10" "3" "53804489" "53804489" "subst" "0.0326265" "03575" "CACNA1D_000066" "g.53804489C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs17053501}" "Germline" "" "rs17053501" "0" "" "" "g.53770462C>T" "" "benign" "" "0000669775" "3" "10" "3" "53844184" "53844184" "subst" "0.0302686" "03575" "CACNA1D_000086" "g.53844184G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs34388124}" "Germline" "" "rs34388124" "0" "" "" "g.53810157G>A" "" "benign" "" "0000677070" "0" "50" "3" "53707848" "53707848" "subst" "0" "02330" "CACNA1D_000149" "g.53707848G>A" "" "" "" "CACNA1D(NM_001128840.3):c.1220+695G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689130" "0" "50" "3" "53769492" "53769492" "subst" "1.62473E-5" "02330" "CACNA1D_000150" "g.53769492G>A" "" "" "" "CACNA1D(NM_001128840.3):c.2713G>A (p.A905T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719558" "0" "30" "3" "53736680" "53736680" "subst" "0.000182731" "01943" "CACNA1D_000151" "g.53736680G>A" "" "" "" "CACNA1D(NM_001128840.3):c.1233G>A (p.K411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719559" "0" "50" "3" "53756472" "53756472" "subst" "0.000105574" "02325" "CACNA1D_000137" "g.53756472A>G" "" "" "" "CACNA1D(NM_000720.4):c.1697A>G (p.N566S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719560" "0" "50" "3" "53796091" "53796091" "subst" "0.000263957" "01943" "CACNA1D_000062" "g.53796091G>A" "" "" "" "CACNA1D(NM_000720.4):c.3913G>A (p.A1305T), CACNA1D(NM_001128840.3):c.3853G>A (p.A1285T, p.(Ala1285Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719561" "0" "50" "3" "53839132" "53839132" "subst" "2.03098E-5" "02325" "CACNA1D_000152" "g.53839132G>A" "" "" "" "CACNA1D(NM_000720.4):c.5768G>A (p.R1923Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719562" "0" "50" "3" "53844020" "53844020" "subst" "2.45543E-5" "02329" "CACNA1D_000126" "g.53844020G>A" "" "" "" "CACNA1D(NM_000720.3):c.5947G>A (p.G1983S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719563" "0" "50" "3" "53844069" "53844069" "subst" "0.000101776" "02325" "CACNA1D_000006" "g.53844069G>C" "" "" "" "CACNA1D(NM_000720.4):c.5996G>C (p.R1999P), CACNA1D(NM_001128840.3):c.5936G>C (p.(Arg1979Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763819" "1" "50" "3" "53765148" "53765148" "subst" "0" "00006" "CACNA1D_000153" "g.53765148A>G" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "2441A>G (Asn814Ser)" "ACMG PM2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.53731121A>G" "" "VUS" "ACMG" "0000801337" "0" "50" "3" "53757847" "53757847" "subst" "0" "01943" "CACNA1D_000154" "g.53757847G>A" "" "" "" "CACNA1D(NM_001128840.3):c.1921G>A (p.A641T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801338" "0" "30" "3" "53774345" "53774345" "subst" "4.06131E-6" "02326" "CACNA1D_000155" "g.53774345T>C" "" "" "" "CACNA1D(NM_000720.4):c.2850T>C (p.F950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801339" "0" "30" "3" "53796059" "53796059" "subst" "0.000215209" "01943" "CACNA1D_000156" "g.53796059C>T" "" "" "" "CACNA1D(NM_000720.4):c.3881C>T (p.S1294F), CACNA1D(NM_001128840.3):c.3821C>T (p.S1274F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801340" "0" "30" "3" "53796092" "53796092" "subst" "0.000552271" "01943" "CACNA1D_000063" "g.53796092C>T" "" "" "" "CACNA1D(NM_000720.4):c.3914C>T (p.A1305V), CACNA1D(NM_001128840.3):c.3854C>T (p.A1285V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801341" "0" "50" "3" "53835202" "53835202" "subst" "0" "02330" "CACNA1D_000157" "g.53835202C>T" "" "" "" "CACNA1D(NM_001128840.3):c.5158C>T (p.P1720S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801342" "0" "50" "3" "53837488" "53837488" "subst" "0.000105578" "01943" "CACNA1D_000158" "g.53837488G>A" "" "" "" "CACNA1D(NM_001128840.3):c.5474G>A (p.R1825Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801343" "0" "30" "3" "53837510" "53837510" "subst" "0.000929896" "02326" "CACNA1D_000078" "g.53837510C>T" "" "" "" "CACNA1D(NM_000720.3):c.5556C>T (p.G1852=), CACNA1D(NM_000720.4):c.5556C>T (p.G1852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801344" "0" "30" "3" "53845391" "53845391" "subst" "0.000277911" "01943" "CHDH_000003" "g.53845391G>A" "" "" "" "CACNA1D(NM_000720.4):c.6504G>A (p.E2168=), CACNA1D(NM_001128840.3):c.6444G>A (p.E2148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000845968" "0" "50" "3" "53682949" "53682949" "subst" "0" "00000" "IQCB1_000092" "g.53682949C>T" "" "{PMID:Fahim 2012:22183348}" "" "RPGRIP1L R744Q p=0.049" "modifier of X-linked retinitis pigmentosa; association with more severe phenotype in RPGR patients (98 affected males tested, p value = 0.044); heterozygous" "Unknown" "?" "" "0" "" "" "g.53649037C>T" "" "VUS (!)" "" "0000850388" "0" "50" "3" "53700558" "53700558" "subst" "4.07133E-5" "02325" "CACNA1D_000033" "g.53700558A>C" "" "" "" "CACNA1D(NM_000720.4):c.1112A>C (p.Y371S), CACNA1D(NM_001128840.3):c.1112A>C (p.(Tyr371Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850389" "0" "50" "3" "53779869" "53779869" "subst" "8.12401E-6" "01943" "CACNA1D_000159" "g.53779869C>T" "" "" "" "CACNA1D(NM_001128840.3):c.3134C>T (p.T1045M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850390" "0" "10" "3" "53845340" "53845340" "subst" "0.0020113" "02326" "CACNA1D_000093" "g.53845340G>A" "" "" "" "CACNA1D(NM_000720.4):c.6453G>A (p.Q2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859107" "0" "50" "3" "53757995" "53757995" "subst" "0.00013818" "01943" "CACNA1D_000044" "g.53757995A>G" "" "" "" "CACNA1D(NM_000720.4):c.2129A>G (p.N710S), CACNA1D(NM_001128840.3):c.2069A>G (p.N690S, p.(Asn690Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859108" "0" "30" "3" "53781440" "53781440" "subst" "0.00211598" "02326" "CACNA1D_000058" "g.53781440G>A" "" "" "" "CACNA1D(NM_000720.4):c.3339G>A (p.A1113=), CACNA1D(NM_001128840.3):c.3279G>A (p.A1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859109" "0" "50" "3" "53783426" "53783426" "subst" "0" "02329" "CACNA1D_000160" "g.53783426G>A" "" "" "" "CACNA1D(NM_001128840.3):c.3446G>A (p.G1149D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859110" "0" "30" "3" "53787593" "53787593" "subst" "0.000397976" "02326" "CACNA1D_000161" "g.53787593C>T" "" "" "" "CACNA1D(NM_000720.4):c.3736-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870940" "0" "90" "3" "53764487" "53764487" "subst" "0" "01919" "CACNA1D_000162" "g.53764487T>C" "" "Török et al., 2022, submitted" "" "F747S" "pathogenicity shown by a combinaiton of ACGM criteria and functional studies (See Ortner et al, 2020, doi: 10.1007/s00424-020-02418-w)" "De novo" "" "" "0" "" "" "g.53730460T>C" "" "pathogenic" "other" "0000885938" "0" "30" "3" "53694184" "53694184" "subst" "3.65833E-5" "02326" "CACNA1D_000024" "g.53694184A>G" "" "" "" "CACNA1D(NM_000720.3):c.648A>G (p.Q216=), CACNA1D(NM_000720.4):c.648A>G (p.Q216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885939" "0" "30" "3" "53699675" "53699675" "dup" "0" "02326" "CACNA1D_000101" "g.53699675dup" "" "" "" "CACNA1D(NM_000720.4):c.767-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885940" "0" "50" "3" "53700449" "53700449" "subst" "0" "02325" "CACNA1D_000163" "g.53700449A>C" "" "" "" "CACNA1D(NM_000720.4):c.1003A>C (p.S335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885941" "0" "30" "3" "53752344" "53752344" "subst" "0.000499695" "02326" "CACNA1D_000104" "g.53752344C>T" "" "" "" "CACNA1D(NM_000720.4):c.1407C>T (p.S469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885942" "0" "30" "3" "53757924" "53757924" "subst" "0.00198604" "02326" "CACNA1D_000042" "g.53757924G>A" "" "" "" "CACNA1D(NM_000720.3):c.2058G>A (p.L686=), CACNA1D(NM_000720.4):c.2058G>A (p.L686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885943" "0" "30" "3" "53766059" "53766059" "subst" "4.06091E-6" "02326" "CACNA1D_000164" "g.53766059A>T" "" "" "" "CACNA1D(NM_000720.4):c.2483A>T (p.Y828F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885944" "0" "30" "3" "53766093" "53766093" "subst" "6.49773E-5" "02326" "CACNA1D_000165" "g.53766093G>A" "" "" "" "CACNA1D(NM_000720.4):c.2517G>A (p.P839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885945" "0" "30" "3" "53774360" "53774360" "subst" "0.000641802" "02326" "CACNA1D_000053" "g.53774360G>C" "" "" "" "CACNA1D(NM_000720.3):c.2865G>C (p.L955=), CACNA1D(NM_000720.4):c.2865G>C (p.L955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885946" "0" "50" "3" "53781391" "53781391" "subst" "0" "02325" "CACNA1D_000166" "g.53781391G>C" "" "" "" "CACNA1D(NM_000720.4):c.3290G>C (p.W1097S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885947" "0" "50" "3" "53785809" "53785809" "subst" "0" "02325" "CACNA1D_000167" "g.53785809C>A" "" "" "" "CACNA1D(NM_000720.4):c.3610C>A (p.P1204T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885948" "0" "30" "3" "53796121" "53796121" "subst" "0.00132065" "02326" "CACNA1D_000064" "g.53796121C>G" "" "" "" "CACNA1D(NM_000720.4):c.3930+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885949" "0" "30" "3" "53839116" "53839116" "subst" "0.000121836" "02326" "CACNA1D_000168" "g.53839116G>A" "" "" "" "CACNA1D(NM_000720.4):c.5752G>A (p.V1918I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885950" "0" "30" "3" "53842693" "53842695" "del" "0" "02326" "CACNA1D_000084" "g.53842693_53842695del" "" "" "" "CACNA1D(NM_000720.3):c.5827_5829delTTC (p.F1943del), CACNA1D(NM_000720.4):c.5827_5829delTTC (p.F1943del), CACNA1D(NM_001128840.3):c.5767_5769delTTC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885951" "0" "30" "3" "53844126" "53844126" "subst" "0.000235815" "02326" "CACNA1D_000128" "g.53844126C>A" "" "" "" "CACNA1D(NM_000720.3):c.6053C>A (p.T2018N), CACNA1D(NM_000720.4):c.6053C>A (p.T2018N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911981" "0" "10" "3" "53814151" "53814151" "subst" "0.0023514" "02326" "CACNA1D_000070" "g.53814151C>T" "" "" "" "CACNA1D(NM_000720.4):c.4746C>T (p.T1582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911982" "0" "10" "3" "53844244" "53844244" "subst" "0.00192675" "02326" "CACNA1D_000096" "g.53844244A>G" "" "" "" "CACNA1D(NM_000720.4):c.6171A>G (p.T2057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000918569" "21" "50" "3" "53535680" "53535680" "subst" "0" "01164" "CACNA1D_000169" "g.53535680A>G" "" "" "" "" "ACMG: PM2_SUP, PP2, BS4 (inherited from unaffected mother)" "Germline" "no" "" "0" "" "" "" "" "VUS" "ACMG" "0000923975" "0" "30" "3" "53684789" "53684789" "subst" "1.21879E-5" "02326" "CACNA1D_000170" "g.53684789T>A" "" "" "" "CACNA1D(NM_000720.4):c.484-17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923976" "0" "30" "3" "53757948" "53757948" "subst" "0.000174646" "02326" "CACNA1D_000171" "g.53757948C>G" "" "" "" "CACNA1D(NM_000720.4):c.2082C>G (p.G694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923977" "0" "30" "3" "53766941" "53766941" "subst" "2.43782E-5" "02326" "CACNA1D_000051" "g.53766941C>T" "" "" "" "CACNA1D(NM_000720.4):c.2633C>T (p.A878V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923978" "0" "50" "3" "53796095" "53796097" "del" "0" "02327" "CACNA1D_000172" "g.53796095_53796097del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923979" "0" "50" "3" "53835340" "53835340" "subst" "0.000219286" "02325" "CACNA1D_000074" "g.53835340G>C" "" "" "" "CACNA1D(NM_000720.3):c.5356G>C (p.A1786P), CACNA1D(NM_000720.4):c.5356G>C (p.A1786P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923980" "0" "50" "3" "53844126" "53844126" "subst" "0.000235815" "02325" "CACNA1D_000128" "g.53844126C>A" "" "" "" "CACNA1D(NM_000720.3):c.6053C>A (p.T2018N), CACNA1D(NM_000720.4):c.6053C>A (p.T2018N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933813" "0" "50" "3" "53699813" "53699813" "subst" "0" "03779" "CACNA1D_000173" "g.53699813A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000948195" "0" "30" "3" "53531375" "53531375" "subst" "0.00119786" "02326" "CACNA1D_000019" "g.53531375C>T" "" "" "" "CACNA1D(NM_000720.4):c.264C>T (p.Y88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948196" "0" "30" "3" "53756425" "53756425" "subst" "0.000243821" "02327" "CACNA1D_000038" "g.53756425C>T" "" "" "" "CACNA1D(NM_000720.3):c.1650C>T (p.I550=), CACNA1D(NM_000720.4):c.1650C>T (p.I550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948197" "0" "30" "3" "53796091" "53796091" "subst" "0.000263957" "02326" "CACNA1D_000062" "g.53796091G>A" "" "" "" "CACNA1D(NM_000720.4):c.3913G>A (p.A1305T), CACNA1D(NM_001128840.3):c.3853G>A (p.A1285T, p.(Ala1285Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962854" "0" "50" "3" "53736738" "53736738" "subst" "0" "02325" "CACNA1D_000174" "g.53736738C>A" "" "" "" "CACNA1D(NM_000720.4):c.1291C>A (p.L431M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962857" "0" "50" "3" "53808634" "53808634" "subst" "0" "02325" "CACNA1D_000175" "g.53808634G>A" "" "" "" "CACNA1D(NM_000720.4):c.4191G>A (p.M1397I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975936" "0" "50" "3" "53694272" "53694272" "subst" "0" "02329" "CACNA1D_000176" "g.53694272C>T" "" "" "" "CACNA1D(NM_000720.4):c.736C>T (p.R246*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975937" "0" "50" "3" "53700558" "53700558" "subst" "4.07133E-5" "01804" "CACNA1D_000033" "g.53700558A>C" "" "" "" "CACNA1D(NM_000720.4):c.1112A>C (p.Y371S), CACNA1D(NM_001128840.3):c.1112A>C (p.(Tyr371Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975938" "0" "50" "3" "53752419" "53752419" "subst" "0" "01804" "CACNA1D_000177" "g.53752419A>C" "" "" "" "CACNA1D(NM_001128840.3):c.1478+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975939" "0" "50" "3" "53757599" "53757599" "subst" "1.62426E-5" "02325" "CACNA1D_000105" "g.53757599C>T" "" "" "" "CACNA1D(NM_000720.4):c.1865C>T (p.T622M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975940" "0" "50" "3" "53757995" "53757995" "subst" "0.00013818" "01804" "CACNA1D_000044" "g.53757995A>G" "" "" "" "CACNA1D(NM_000720.4):c.2129A>G (p.N710S), CACNA1D(NM_001128840.3):c.2069A>G (p.N690S, p.(Asn690Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975941" "0" "50" "3" "53766071" "53766071" "subst" "0" "02326" "CACNA1D_000178" "g.53766071A>G" "" "" "" "CACNA1D(NM_000720.4):c.2495A>G (p.D832G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975942" "0" "50" "3" "53796091" "53796091" "subst" "0.000263957" "01804" "CACNA1D_000062" "g.53796091G>A" "" "" "" "CACNA1D(NM_000720.4):c.3913G>A (p.A1305T), CACNA1D(NM_001128840.3):c.3853G>A (p.A1285T, p.(Ala1285Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975943" "0" "50" "3" "53820862" "53820862" "subst" "1.21843E-5" "01804" "CACNA1D_000179" "g.53820862C>T" "" "" "" "CACNA1D(NM_001128840.3):c.4806C>T (p.(Thr1602=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993817" "0" "30" "3" "53531182" "53531182" "subst" "0" "01804" "CACNA1D_000180" "g.53531182C>G" "" "" "" "CACNA1D(NM_001128840.2):c.71C>G (p.(Ala24Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993818" "0" "50" "3" "53531431" "53531431" "subst" "0" "01804" "CACNA1D_000181" "g.53531431T>G" "" "" "" "CACNA1D(NM_001128840.2):c.320T>G (p.(Phe107Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993819" "0" "30" "3" "53535655" "53535655" "subst" "0" "01804" "CACNA1D_000182" "g.53535655T>C" "" "" "" "CACNA1D(NM_001128840.2):c.391T>C (p.(Phe131Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993820" "0" "30" "3" "53694320" "53694322" "del" "0" "02330" "CACNA1D_000183" "g.53694320_53694322del" "" "" "" "CACNA1D(NM_000720.4):c.766+18_766+20delCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993821" "0" "30" "3" "53736791" "53736791" "subst" "0.00103955" "02326" "CACNA1D_000035" "g.53736791C>T" "" "" "" "CACNA1D(NM_000720.3):c.1344C>T (p.I448=), CACNA1D(NM_000720.4):c.1344C>T (p.I448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993822" "0" "30" "3" "53752406" "53752406" "subst" "1.21866E-5" "01804" "CACNA1D_000184" "g.53752406G>A" "" "" "" "CACNA1D(NM_001128840.2):c.1469G>A (p.(Gly490Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993823" "0" "30" "3" "53756352" "53756352" "subst" "2.84239E-5" "01804" "CACNA1D_000185" "g.53756352G>A" "" "" "" "CACNA1D(NM_001128840.2):c.1517G>A (p.(Arg506His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993824" "0" "50" "3" "53760991" "53760991" "subst" "4.06068E-6" "01804" "CACNA1D_000186" "g.53760991G>C" "" "" "" "CACNA1D(NM_001128840.2):c.2186G>C (p.(Cys729Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993825" "0" "30" "3" "53766909" "53766909" "subst" "0" "02330" "CACNA1D_000187" "g.53766909G>A" "" "" "" "CACNA1D(NM_000720.4):c.2601G>A (p.R867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993826" "0" "30" "3" "53783341" "53783341" "subst" "0.000670089" "02330" "CACNA1D_000188" "g.53783341A>G" "" "" "" "CACNA1D(NM_000720.4):c.3421A>G (p.I1141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993827" "0" "50" "3" "53785830" "53785830" "subst" "4.06085E-6" "01804" "CACNA1D_000115" "g.53785830A>C" "" "" "" "CACNA1D(NM_000720.4):c.3631A>C (p.K1211Q), CACNA1D(NM_001128840.2):c.3571A>C (p.(Lys1191Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993828" "0" "30" "3" "53787605" "53787605" "subst" "1.21825E-5" "01804" "CACNA1D_000189" "g.53787605G>A" "" "" "" "CACNA1D(NM_001128840.2):c.3682G>A (p.(Glu1228Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993829" "0" "30" "3" "53820843" "53820843" "subst" "8.12546E-6" "02325" "CACNA1D_000190" "g.53820843G>A" "" "" "" "CACNA1D(NM_000720.4):c.4853-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993830" "0" "30" "3" "53845152" "53845152" "subst" "1.62439E-5" "01804" "CACNA1D_000191" "g.53845152G>A" "" "" "" "CACNA1D(NM_001128840.2):c.6205G>A (p.(Glu2069Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993831" "0" "50" "3" "53845162" "53845162" "subst" "2.03041E-5" "01804" "CACNA1D_000192" "g.53845162G>A" "" "" "" "CACNA1D(NM_001128840.2):c.6215G>A (p.(Gly2072Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013910" "0" "10" "3" "53769440" "53769440" "subst" "4.06068E-6" "02330" "CACNA1D_000193" "g.53769440C>T" "" "" "" "CACNA1D(NM_000720.4):c.2721C>T (p.I907=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013911" "0" "50" "3" "53796059" "53796059" "subst" "0.000215209" "02325" "CACNA1D_000156" "g.53796059C>T" "" "" "" "CACNA1D(NM_000720.4):c.3881C>T (p.S1294F), CACNA1D(NM_001128840.3):c.3821C>T (p.S1274F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001019335" "0" "30" "3" "53842693" "53842695" "del" "0" "03779" "CACNA1D_000084" "g.53842693_53842695del" "" "" "" "" "" "CLASSIFICATION record" "" "rs72556363" "0" "" "" "" "" "likely benign" "" "0001024850" "0" "50" "3" "53787624" "53787624" "subst" "0.000556309" "02325" "CACNA1D_000060" "g.53787624A>G" "" "" "" "CACNA1D(NM_000720.3):c.3761A>G (p.N1254S), CACNA1D(NM_000720.4):c.3761A>G (p.N1254S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024851" "0" "30" "3" "53796091" "53796091" "subst" "0.000263957" "02325" "CACNA1D_000062" "g.53796091G>A" "" "" "" "CACNA1D(NM_000720.4):c.3913G>A (p.A1305T), CACNA1D(NM_001128840.3):c.3853G>A (p.A1285T, p.(Ala1285Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024852" "0" "10" "3" "53844325" "53844325" "subst" "0" "02330" "CACNA1D_000194" "g.53844325A>G" "" "" "" "CACNA1D(NM_000720.4):c.6252A>G (p.A2084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034093" "0" "30" "3" "53531402" "53531402" "subst" "4.06062E-6" "02326" "CACNA1D_000195" "g.53531402G>T" "" "" "" "CACNA1D(NM_000720.4):c.291G>T (p.S97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034094" "0" "50" "3" "53699779" "53699779" "subst" "0" "01804" "CACNA1D_000196" "g.53699779A>G" "" "" "" "CACNA1D(NM_001128840.3):c.859A>G (p.(Ile287Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034095" "0" "50" "3" "53707750" "53707750" "subst" "1.21819E-5" "01804" "CACNA1D_000197" "g.53707750C>T" "" "" "" "CACNA1D(NM_000720.4):c.1127C>T (p.(Ala376Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034096" "0" "50" "3" "53752394" "53752394" "subst" "2.84326E-5" "01804" "CACNA1D_000198" "g.53752394G>A" "" "" "" "CACNA1D(NM_001128840.3):c.1457G>A (p.(Arg486Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034097" "0" "50" "3" "53764497" "53764497" "subst" "0.000280196" "01804" "CACNA1D_000047" "g.53764497C>A" "" "" "" "CACNA1D(NM_000720.4):c.2310C>A (p.I770=), CACNA1D(NM_001128840.3):c.2250C>A (p.(Ile750=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034098" "0" "50" "3" "53781471" "53781471" "subst" "0" "01804" "CACNA1D_000199" "g.53781471C>T" "" "" "" "CACNA1D(NM_001128840.3):c.3310C>T (p.(Pro1104Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034099" "0" "30" "3" "53796111" "53796111" "subst" "0" "01804" "CACNA1D_000200" "g.53796111G>A" "" "" "" "CACNA1D(NM_001128840.3):c.3870+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034100" "0" "30" "3" "53844069" "53844069" "subst" "0.000101776" "01804" "CACNA1D_000006" "g.53844069G>C" "" "" "" "CACNA1D(NM_000720.4):c.5996G>C (p.R1999P), CACNA1D(NM_001128840.3):c.5936G>C (p.(Arg1979Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045932" "0" "50" "3" "53700479" "53700479" "subst" "8.12473E-6" "02327" "CACNA1D_000201" "g.53700479A>C" "" "" "" "" "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 CACNA1D ## Count = 536 "{{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}}" "0000003865" "00024146" "00" "1104" "0" "1104" "0" "c.1104T>C" "r.(=)" "p.(=)" "7" "0000003865" "00024233" "00" "1104" "0" "1104" "0" "c.1104T>C" "r.(=)" "p.(=)" "" "0000003866" "00024146" "00" "2760" "0" "2760" "0" "c.2760C>T" "r.(=)" "p.(=)" "21" "0000003866" "00024233" "00" "2700" "0" "2700" "0" "c.2700C>T" "r.(=)" "p.(=)" "" "0000011848" "00024146" "00" "3067" "-71" "3067" "-71" "c.3067-71G>C" "r.(=)" "p.(=)" "24i" "0000011848" "00024233" "00" "3007" "-71" "3007" "-71" "c.3007-71G>C" "r.(=)" "p.(=)" "" "0000011849" "00024146" "00" "3175" "-25" "3175" "-25" "c.3175-25A>G" "r.(=)" "p.(=)" "25i" "0000011849" "00024233" "00" "3115" "-25" "3115" "-25" "c.3115-25A>G" "r.(=)" "p.(=)" "" "0000011850" "00024146" "00" "3412" "0" "3412" "0" "c.3412A>G" "r.(?)" "p.(Ile1138Val)" "28" "0000011850" "00024233" "00" "3352" "0" "3352" "0" "c.3352A>G" "r.(?)" "p.(Ile1118Val)" "" "0000096518" "00024146" "50" "5996" "0" "5996" "0" "c.5996G>C" "r.(?)" "p.(Arg1999Pro)" "48" "0000163260" "00024146" "90" "1201" "0" "1201" "0" "c.1201G>C" "r.(?)" "p.(Val401Leu)" "8" "0000163469" "00024146" "90" "1208" "0" "1209" "0" "c.1208_1209insGGG" "r.(?)" "p.(Gly403dup)" "8" "0000163470" "00024146" "90" "1208" "0" "1209" "0" "c.1208_1209insGGG" "r.(?)" "p.(Gly403dup)" "8" "0000163471" "00024146" "90" "1208" "0" "1209" "0" "c.1208_1209insGGG" "r.(?)" "p.(Gly403dup)" "8" "0000163472" "00024146" "90" "1208" "0" "1209" "0" "c.1208_1209insGGG" "r.(?)" "p.Gly403dup" "8" "0000163473" "00024146" "90" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Gly403Asp)" "8" "0000163474" "00024146" "90" "2310" "0" "2310" "0" "c.2310C>G" "r.(?)" "p.(Ile770Met)" "17" "0000163475" "00024146" "90" "1207" "0" "1207" "0" "c.1207G>C" "r.1207g>c" "p.Gly403Arg" "8" "0000163476" "00024146" "90" "2310" "0" "2310" "0" "c.2310C>G" "r.2310c>g" "p.Ile770Met" "17" "0000163477" "00024146" "00" "1117" "-600" "1117" "-600" "c.1117-600G>C" "r.(=)" "p.(=)" "7i" "0000163477" "00024233" "90" "1207" "0" "1207" "0" "c.1207G>C" "r.1207g>c" "p.Gly403Arg" "8a" "0000163478" "00024146" "00" "1117" "-600" "1117" "-600" "c.1117-600G>C" "r.(?)" "p.(=)" "7i" "0000163478" "00024233" "90" "1207" "0" "1207" "0" "c.1207G>C" "r.(?)" "p.(Gly403Arg)" "8a" "0000163479" "00024146" "00" "1117" "-600" "1117" "-600" "c.1117-600G>C" "r.(=)" "p.(=)" "7i" "0000163479" "00024233" "90" "1207" "0" "1207" "0" "c.1207G>C" "r.(?)" "p.(Gly403Arg)" "8a" "0000246111" "00024146" "30" "3761" "0" "3761" "0" "c.3761A>G" "r.(?)" "p.(Asn1254Ser)" "" "0000246111" "00024233" "30" "3701" "0" "3701" "0" "c.3701A>G" "r.(?)" "p.(Asn1234Ser)" "" "0000246135" "00024146" "10" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" "0000246135" "00024233" "10" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" "0000246136" "00024146" "10" "927" "0" "927" "0" "c.927A>G" "r.(?)" "p.(Val309=)" "" "0000246136" "00024233" "10" "927" "0" "927" "0" "c.927A>G" "r.(?)" "p.(Val309=)" "" "0000246137" "00024146" "10" "6171" "0" "6171" "0" "c.6171A>G" "r.(?)" "p.(Thr2057=)" "" "0000246137" "00024233" "10" "6111" "0" "6111" "0" "c.6111A>G" "r.(?)" "p.(Thr2037=)" "" "0000246163" "00024146" "10" "3174" "18" "3174" "18" "c.3174+18A>G" "r.(=)" "p.(=)" "" "0000246163" "00024233" "10" "3114" "18" "3114" "18" "c.3114+18A>G" "r.(=)" "p.(=)" "" "0000246195" "00024146" "50" "1999" "0" "1999" "0" "c.1999A>T" "r.(?)" "p.(Met667Leu)" "" "0000246195" "00024233" "50" "1939" "0" "1939" "0" "c.1939A>T" "r.(?)" "p.(Met647Leu)" "" "0000246197" "00024146" "50" "2129" "0" "2129" "0" "c.2129A>G" "r.(?)" "p.(Asn710Ser)" "" "0000246197" "00024233" "50" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "" "0000246203" "00024146" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Tyr371Ser)" "" "0000246203" "00024233" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Tyr371Ser)" "" "0000255077" "00024146" "30" "900" "0" "900" "0" "c.900A>G" "r.(?)" "p.(Thr300=)" "" "0000255077" "00024233" "30" "900" "0" "900" "0" "c.900A>G" "r.(?)" "p.(Thr300=)" "" "0000255826" "00024146" "50" "3761" "0" "3761" "0" "c.3761A>G" "r.(?)" "p.(Asn1254Ser)" "" "0000255826" "00024233" "50" "3701" "0" "3701" "0" "c.3701A>G" "r.(?)" "p.(Asn1234Ser)" "" "0000256283" "00024146" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000256283" "00024233" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000256455" "00024146" "50" "5467" "0" "5467" "0" "c.5467A>T" "r.(?)" "p.(Arg1823Ter)" "" "0000256455" "00024233" "50" "5407" "0" "5407" "0" "c.5407A>T" "r.(?)" "p.(Arg1803Ter)" "" "0000256652" "00024146" "50" "5480" "0" "5480" "0" "c.5480A>G" "r.(?)" "p.(Tyr1827Cys)" "" "0000256652" "00024233" "50" "5420" "0" "5420" "0" "c.5420A>G" "r.(?)" "p.(Tyr1807Cys)" "" "0000264016" "00024146" "10" "20" "0" "22" "0" "c.20_22del" "r.(?)" "p.(Met7del)" "" "0000264016" "00024233" "10" "20" "0" "22" "0" "c.20_22del" "r.(?)" "p.(Met7del)" "" "0000264017" "00024146" "10" "-19" "0" "-19" "0" "c.-19G>A" "r.(?)" "p.(=)" "" "0000264017" "00024233" "10" "-19" "0" "-19" "0" "c.-19G>A" "r.(?)" "p.(=)" "" "0000264019" "00024146" "10" "6555" "0" "6555" "0" "c.*9G>A" "r.(=)" "p.(=)" "" "0000264019" "00024233" "10" "6495" "0" "6495" "0" "c.*9G>A" "r.(=)" "p.(=)" "" "0000264020" "00024146" "50" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Gly336Asp)" "" "0000264020" "00024233" "50" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Gly336Asp)" "" "0000264021" "00024146" "10" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Asp368=)" "" "0000264021" "00024233" "10" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Asp368=)" "" "0000264022" "00024146" "10" "1220" "10" "1220" "10" "c.1220+10C>T" "r.(=)" "p.(=)" "" "0000264022" "00024233" "10" "1220" "700" "1220" "700" "c.1220+700C>T" "r.(=)" "p.(=)" "" "0000264023" "00024146" "10" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Ile448=)" "" "0000264023" "00024233" "10" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Ile448=)" "" "0000264024" "00024146" "10" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Pro450=)" "" "0000264024" "00024233" "10" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Pro450=)" "" "0000264025" "00024146" "10" "1650" "0" "1650" "0" "c.1650C>T" "r.(?)" "p.(Ile550=)" "" "0000264025" "00024233" "10" "1590" "0" "1590" "0" "c.1590C>T" "r.(?)" "p.(Ile530=)" "" "0000264026" "00024146" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Asp58Asn)" "" "0000264026" "00024233" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Asp58Asn)" "" "0000264027" "00024146" "30" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(Cys588=)" "" "0000264027" "00024233" "30" "1704" "0" "1704" "0" "c.1704C>T" "r.(?)" "p.(Cys568=)" "" "0000264028" "00024146" "10" "2058" "0" "2058" "0" "c.2058G>A" "r.(?)" "p.(Leu686=)" "" "0000264028" "00024233" "10" "1998" "0" "1998" "0" "c.1998G>A" "r.(?)" "p.(Leu666=)" "" "0000264029" "00024146" "10" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(Gly693=)" "" "0000264029" "00024233" "10" "2019" "0" "2019" "0" "c.2019C>T" "r.(?)" "p.(Gly673=)" "" "0000264030" "00024146" "10" "2160" "14" "2160" "14" "c.2160+14C>G" "r.(=)" "p.(=)" "" "0000264030" "00024233" "10" "2100" "14" "2100" "14" "c.2100+14C>G" "r.(=)" "p.(=)" "" "0000264031" "00024146" "10" "2196" "0" "2196" "0" "c.2196C>T" "r.(?)" "p.(Tyr732=)" "" "0000264031" "00024233" "10" "2136" "0" "2136" "0" "c.2136C>T" "r.(?)" "p.(Tyr712=)" "" "0000264032" "00024146" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Pro74=)" "" "0000264032" "00024233" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Pro74=)" "" "0000264033" "00024146" "50" "2310" "0" "2310" "0" "c.2310C>A" "r.(?)" "p.(Ile770=)" "" "0000264033" "00024233" "50" "2250" "0" "2250" "0" "c.2250C>A" "r.(?)" "p.(Ile750=)" "" "0000264034" "00024146" "10" "2466" "5" "2466" "5" "c.2466+5G>A" "r.spl?" "p.?" "" "0000264034" "00024233" "10" "2406" "5" "2406" "5" "c.2406+5G>A" "r.spl?" "p.?" "" "0000264035" "00024146" "30" "2527" "0" "2527" "0" "c.2527G>A" "r.(?)" "p.(Val843Met)" "" "0000264035" "00024233" "30" "2467" "0" "2467" "0" "c.2467G>A" "r.(?)" "p.(Val823Met)" "" "0000264036" "00024146" "10" "2622" "0" "2622" "0" "c.2622G>A" "r.(?)" "p.(Lys874=)" "" "0000264036" "00024233" "10" "2562" "0" "2562" "0" "c.2562G>A" "r.(?)" "p.(Lys854=)" "" "0000264037" "00024146" "50" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Ala878Val)" "" "0000264037" "00024233" "50" "2573" "0" "2573" "0" "c.2573C>T" "r.(?)" "p.(Ala858Val)" "" "0000264038" "00024146" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Tyr88=)" "" "0000264038" "00024233" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Tyr88=)" "" "0000264039" "00024146" "30" "269" "0" "272" "0" "c.269_272del" "r.(?)" "p.(Lys90ThrfsTer32)" "" "0000264039" "00024233" "30" "269" "0" "272" "0" "c.269_272del" "r.(?)" "p.(Lys90ThrfsTer32)" "" "0000264040" "00024146" "10" "2760" "0" "2760" "0" "c.2760C>T" "r.(?)" "p.(Ser920=)" "" "0000264040" "00024233" "10" "2700" "0" "2700" "0" "c.2700C>T" "r.(?)" "p.(Ser900=)" "" "0000264041" "00024146" "10" "2802" "0" "2802" "0" "c.2802C>T" "r.(?)" "p.(Phe934=)" "" "0000264041" "00024233" "10" "2742" "0" "2742" "0" "c.2742C>T" "r.(?)" "p.(Phe914=)" "" "0000264042" "00024146" "10" "2865" "0" "2865" "0" "c.2865G>C" "r.(?)" "p.(Leu955=)" "" "0000264042" "00024233" "10" "2805" "0" "2805" "0" "c.2805G>C" "r.(?)" "p.(Leu935=)" "" "0000264043" "00024146" "10" "3105" "0" "3105" "0" "c.3105C>T" "r.(?)" "p.(Ile1035=)" "" "0000264043" "00024233" "10" "3045" "0" "3045" "0" "c.3045C>T" "r.(?)" "p.(Ile1015=)" "" "0000264044" "00024146" "10" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Arg104=)" "" "0000264044" "00024233" "10" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Arg104=)" "" "0000264045" "00024146" "30" "3175" "-18" "3175" "-18" "c.3175-18T>G" "r.(=)" "p.(=)" "" "0000264045" "00024233" "30" "3115" "-18" "3115" "-18" "c.3115-18T>G" "r.(=)" "p.(=)" "" "0000264046" "00024146" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Val1087Ile)" "" "0000264046" "00024233" "50" "3199" "0" "3199" "0" "c.3199G>A" "r.(?)" "p.(Val1067Ile)" "" "0000264047" "00024146" "10" "3339" "0" "3339" "0" "c.3339G>A" "r.(?)" "p.(Ala1113=)" "" "0000264047" "00024233" "10" "3279" "0" "3279" "0" "c.3279G>A" "r.(?)" "p.(Ala1093=)" "" "0000264048" "00024146" "10" "3357" "0" "3357" "0" "c.3357G>A" "r.(?)" "p.(Thr1119=)" "" "0000264048" "00024233" "10" "3297" "0" "3297" "0" "c.3297G>A" "r.(?)" "p.(Thr1099=)" "" "0000264049" "00024146" "10" "3909" "0" "3909" "0" "c.3909C>T" "r.(?)" "p.(Asp1303=)" "" "0000264049" "00024233" "10" "3849" "0" "3849" "0" "c.3849C>T" "r.(?)" "p.(Asp1283=)" "" "0000264050" "00024146" "30" "3913" "0" "3913" "0" "c.3913G>A" "r.(?)" "p.(Ala1305Thr)" "" "0000264050" "00024233" "30" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Ala1285Thr)" "" "0000264051" "00024146" "30" "3914" "0" "3914" "0" "c.3914C>T" "r.(?)" "p.(Ala1305Val)" "" "0000264051" "00024233" "30" "3854" "0" "3854" "0" "c.3854C>T" "r.(?)" "p.(Ala1285Val)" "" "0000264052" "00024146" "10" "3930" "13" "3930" "13" "c.3930+13C>G" "r.(=)" "p.(=)" "" "0000264052" "00024233" "10" "3870" "13" "3870" "13" "c.3870+13C>G" "r.(=)" "p.(=)" "" "0000264053" "00024146" "10" "3952" "0" "3952" "0" "c.3952C>T" "r.(?)" "p.(Pro1318Ser)" "" "0000264053" "00024233" "10" "3892" "0" "3892" "0" "c.3892C>T" "r.(?)" "p.(Pro1298Ser)" "" "0000264054" "00024146" "10" "4014" "0" "4014" "0" "c.4014C>T" "r.(?)" "p.(Phe1338=)" "" "0000264054" "00024233" "10" "3954" "0" "3954" "0" "c.3954C>T" "r.(?)" "p.(Phe1318=)" "" "0000264055" "00024146" "10" "4113" "0" "4113" "0" "c.4113G>A" "r.(?)" "p.(Pro1371=)" "" "0000264055" "00024233" "10" "4053" "0" "4053" "0" "c.4053G>A" "r.(?)" "p.(Pro1351=)" "" "0000264056" "00024146" "10" "4746" "0" "4746" "0" "c.4746C>T" "r.(?)" "p.(Thr1582=)" "" "0000264056" "00024233" "10" "4686" "0" "4686" "0" "c.4686C>T" "r.(?)" "p.(Thr1562=)" "" "0000264057" "00024146" "10" "4750" "15" "4750" "15" "c.4750+15C>T" "r.(=)" "p.(=)" "" "0000264057" "00024233" "10" "4690" "15" "4690" "15" "c.4690+15C>T" "r.(=)" "p.(=)" "" "0000264058" "00024146" "10" "4968" "0" "4968" "0" "c.4968C>T" "r.(?)" "p.(Thr1656=)" "" "0000264058" "00024233" "10" "4908" "0" "4908" "0" "c.4908C>T" "r.(?)" "p.(Thr1636=)" "" "0000264059" "00024146" "50" "5186" "0" "5186" "0" "c.5186G>A" "r.(?)" "p.(Arg1729His)" "" "0000264059" "00024233" "50" "5126" "0" "5126" "0" "c.5126G>A" "r.(?)" "p.(Arg1709His)" "" "0000264060" "00024146" "30" "5356" "0" "5356" "0" "c.5356G>C" "r.(?)" "p.(Ala1786Pro)" "" "0000264060" "00024233" "30" "5296" "0" "5296" "0" "c.5296G>C" "r.(?)" "p.(Ala1766Pro)" "" "0000264061" "00024146" "30" "5438" "0" "5438" "0" "c.5438G>A" "r.(?)" "p.(Arg1813Gln)" "" "0000264061" "00024233" "30" "5378" "0" "5378" "0" "c.5378G>A" "r.(?)" "p.(Arg1793Gln)" "" "0000264062" "00024146" "10" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Ala182=)" "" "0000264062" "00024233" "10" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Ala182=)" "" "0000264063" "00024146" "50" "5542" "0" "5542" "0" "c.5542C>G" "r.(?)" "p.(Pro1848Ala)" "" "0000264063" "00024233" "50" "5482" "0" "5482" "0" "c.5482C>G" "r.(?)" "p.(Pro1828Ala)" "" "0000264064" "00024146" "10" "5556" "0" "5556" "0" "c.5556C>T" "r.(?)" "p.(Gly1852=)" "" "0000264064" "00024233" "10" "5496" "0" "5496" "0" "c.5496C>T" "r.(?)" "p.(Gly1832=)" "" "0000264065" "00024146" "10" "5645" "20" "5645" "20" "c.5645+20G>T" "r.(=)" "p.(=)" "" "0000264065" "00024233" "10" "5585" "20" "5585" "20" "c.5585+20G>T" "r.(=)" "p.(=)" "" "0000264066" "00024146" "10" "5703" "0" "5703" "0" "c.5703C>T" "r.(?)" "p.(Pro1901=)" "" "0000264066" "00024233" "10" "5643" "0" "5643" "0" "c.5643C>T" "r.(?)" "p.(Pro1881=)" "" "0000264067" "00024146" "30" "5827" "0" "5829" "0" "c.5827_5829del" "r.(?)" "p.(Phe1943del)" "" "0000264067" "00024233" "30" "5767" "0" "5769" "0" "c.5767_5769del" "r.(?)" "p.(Phe1923del)" "" "0000264068" "00024146" "50" "5996" "0" "5996" "0" "c.5996G>C" "r.(?)" "p.(Arg1999Pro)" "" "0000264068" "00024233" "50" "5936" "0" "5936" "0" "c.5936G>C" "r.(?)" "p.(Arg1979Pro)" "" "0000264069" "00024146" "10" "6111" "0" "6111" "0" "c.6111G>A" "r.(?)" "p.(Pro2037=)" "" "0000264069" "00024233" "10" "6051" "0" "6051" "0" "c.6051G>A" "r.(?)" "p.(Pro2017=)" "" "0000264070" "00024146" "50" "6116" "0" "6116" "0" "c.6116T>G" "r.(?)" "p.(Leu2039Arg)" "" "0000264070" "00024233" "50" "6056" "0" "6056" "0" "c.6056T>G" "r.(?)" "p.(Leu2019Arg)" "" "0000264071" "00024146" "30" "6217" "0" "6217" "0" "c.6217G>A" "r.(?)" "p.(Asp2073Asn)" "" "0000264071" "00024233" "30" "6157" "0" "6157" "0" "c.6157G>A" "r.(?)" "p.(Asp2053Asn)" "" "0000264072" "00024146" "10" "623" "8" "623" "8" "c.623+8T>A" "r.(=)" "p.(=)" "" "0000264072" "00024233" "10" "623" "8" "623" "8" "c.623+8T>A" "r.(=)" "p.(=)" "" "0000264073" "00024146" "50" "6244" "0" "6244" "0" "c.6244G>A" "r.(?)" "p.(Val2082Met)" "" "0000264073" "00024233" "50" "6184" "0" "6184" "0" "c.6184G>A" "r.(?)" "p.(Val2062Met)" "" "0000264074" "00024146" "50" "6394" "0" "6394" "0" "c.6394C>T" "r.(?)" "p.(Arg2132Cys)" "" "0000264074" "00024233" "50" "6334" "0" "6334" "0" "c.6334C>T" "r.(?)" "p.(Arg2112Cys)" "" "0000264075" "00024146" "30" "6401" "0" "6401" "0" "c.6401G>T" "r.(?)" "p.(Arg2134Leu)" "" "0000264075" "00024233" "30" "6341" "0" "6341" "0" "c.6341G>T" "r.(?)" "p.(Arg2114Leu)" "" "0000264076" "00024146" "10" "6408" "0" "6408" "0" "c.6408C>T" "r.(?)" "p.(Asn2136=)" "" "0000264076" "00024233" "10" "6348" "0" "6348" "0" "c.6348C>T" "r.(?)" "p.(Asn2116=)" "" "0000264077" "00024146" "10" "6453" "0" "6453" "0" "c.6453G>A" "r.(?)" "p.(Gln2151=)" "" "0000264077" "00024233" "10" "6393" "0" "6393" "0" "c.6393G>A" "r.(?)" "p.(Gln2131=)" "" "0000264078" "00024146" "10" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Val254=)" "" "0000264078" "00024233" "10" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Val254=)" "" "0000264080" "00024146" "10" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Ile282=)" "" "0000264080" "00024233" "10" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Ile282=)" "" "0000264081" "00024146" "10" "920" "-17" "920" "-17" "c.920-17G>C" "r.(=)" "p.(=)" "" "0000264081" "00024233" "10" "920" "-17" "920" "-17" "c.920-17G>C" "r.(=)" "p.(=)" "" "0000264082" "00024146" "10" "954" "0" "954" "0" "c.954G>A" "r.(?)" "p.(Ala318=)" "" "0000264082" "00024233" "10" "954" "0" "954" "0" "c.954G>A" "r.(?)" "p.(Ala318=)" "" "0000266435" "00024146" "10" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Asp368=)" "" "0000266435" "00024233" "10" "1104" "0" "1104" "0" "c.1104T>C" "r.(?)" "p.(Asp368=)" "" "0000266436" "00024146" "10" "2760" "0" "2760" "0" "c.2760C>T" "r.(?)" "p.(Ser920=)" "" "0000266436" "00024233" "10" "2700" "0" "2700" "0" "c.2700C>T" "r.(?)" "p.(Ser900=)" "" "0000272471" "00024146" "30" "1650" "0" "1650" "0" "c.1650C>T" "r.(?)" "p.(Ile550=)" "" "0000272471" "00024233" "30" "1590" "0" "1590" "0" "c.1590C>T" "r.(?)" "p.(Ile530=)" "" "0000272472" "00024146" "30" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Leu591=)" "" "0000272472" "00024233" "30" "1711" "0" "1711" "0" "c.1711C>T" "r.(?)" "p.(Leu571=)" "" "0000272473" "00024146" "30" "2058" "0" "2058" "0" "c.2058G>A" "r.(?)" "p.(Leu686=)" "" "0000272473" "00024233" "30" "1998" "0" "1998" "0" "c.1998G>A" "r.(?)" "p.(Leu666=)" "" "0000272474" "00024146" "30" "3339" "0" "3339" "0" "c.3339G>A" "r.(?)" "p.(Ala1113=)" "" "0000272474" "00024233" "30" "3279" "0" "3279" "0" "c.3279G>A" "r.(?)" "p.(Ala1093=)" "" "0000272475" "00024146" "30" "3952" "0" "3952" "0" "c.3952C>T" "r.(?)" "p.(Pro1318Ser)" "" "0000272475" "00024233" "30" "3892" "0" "3892" "0" "c.3892C>T" "r.(?)" "p.(Pro1298Ser)" "" "0000272476" "00024146" "50" "4056" "0" "4056" "0" "c.4056G>C" "r.(?)" "p.(Arg1352Ser)" "" "0000272476" "00024233" "50" "3996" "0" "3996" "0" "c.3996G>C" "r.(?)" "p.(Arg1332Ser)" "" "0000272477" "00024146" "30" "4731" "0" "4731" "0" "c.4731T>C" "r.(?)" "p.(Ala1577=)" "" "0000272477" "00024233" "30" "4671" "0" "4671" "0" "c.4671T>C" "r.(?)" "p.(Ala1557=)" "" "0000272478" "00024146" "30" "5556" "0" "5556" "0" "c.5556C>T" "r.(?)" "p.(Gly1852=)" "" "0000272478" "00024233" "30" "5496" "0" "5496" "0" "c.5496C>T" "r.(?)" "p.(Gly1832=)" "" "0000272479" "00024146" "30" "5763" "0" "5763" "0" "c.5763T>C" "r.(?)" "p.(Asp1921=)" "" "0000272479" "00024233" "30" "5703" "0" "5703" "0" "c.5703T>C" "r.(?)" "p.(Asp1901=)" "" "0000272480" "00024146" "30" "5827" "0" "5829" "0" "c.5827_5829del" "r.(?)" "p.(Phe1943del)" "" "0000272480" "00024233" "30" "5767" "0" "5769" "0" "c.5767_5769del" "r.(?)" "p.(Phe1923del)" "" "0000272481" "00024146" "30" "954" "0" "954" "0" "c.954G>A" "r.(?)" "p.(Ala318=)" "" "0000272481" "00024233" "30" "954" "0" "954" "0" "c.954G>A" "r.(?)" "p.(Ala318=)" "" "0000329458" "00024146" "30" "5645" "3" "5645" "3" "c.5645+3G>A" "r.spl?" "p.?" "" "0000329458" "00024233" "30" "5585" "3" "5585" "3" "c.5585+3G>A" "r.spl?" "p.?" "" "0000329459" "00024146" "50" "5673" "0" "5673" "0" "c.5673C>A" "r.(?)" "p.(Tyr1891Ter)" "" "0000329459" "00024233" "50" "5613" "0" "5613" "0" "c.5613C>A" "r.(?)" "p.(Tyr1871Ter)" "" "0000329460" "00024146" "50" "5981" "0" "5981" "0" "c.5981C>T" "r.(?)" "p.(Pro1994Leu)" "" "0000329460" "00024233" "50" "5921" "0" "5921" "0" "c.5921C>T" "r.(?)" "p.(Pro1974Leu)" "" "0000404726" "00024146" "70" "1493" "0" "1493" "0" "c.1493G>T" "r.(?)" "p.(Arg498Leu)" "11" "0000520412" "00024146" "30" "20" "0" "22" "0" "c.20_22dup" "r.(?)" "p.(Met7dup)" "" "0000520412" "00024233" "30" "20" "0" "22" "0" "c.20_22dup" "r.(?)" "p.(Met7dup)" "" "0000520413" "00024146" "30" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" "0000520413" "00024233" "30" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" "0000520414" "00024146" "50" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" "0000520414" "00024233" "50" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" "0000520415" "00024146" "50" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Gly229=)" "" "0000520415" "00024233" "50" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Gly229=)" "" "0000520416" "00024146" "10" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Ala241=)" "" "0000520416" "00024233" "10" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Ala241=)" "" "0000520417" "00024146" "10" "767" "-12" "767" "-12" "c.767-12dup" "r.(=)" "p.(=)" "" "0000520417" "00024233" "10" "767" "-12" "767" "-12" "c.767-12dup" "r.(=)" "p.(=)" "" "0000520418" "00024146" "30" "1117" "-595" "1117" "-595" "c.1117-595A>G" "r.(=)" "p.(=)" "" "0000520418" "00024233" "30" "1212" "0" "1212" "0" "c.1212A>G" "r.(?)" "p.(Val404=)" "" "0000520419" "00024146" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Ile448=)" "" "0000520419" "00024233" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Ile448=)" "" "0000520420" "00024146" "50" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000520420" "00024233" "50" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000520421" "00024146" "10" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Ser469=)" "" "0000520421" "00024233" "10" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Ser469=)" "" "0000520422" "00024146" "50" "1865" "0" "1865" "0" "c.1865C>T" "r.(?)" "p.(Thr622Met)" "" "0000520422" "00024233" "50" "1805" "0" "1805" "0" "c.1805C>T" "r.(?)" "p.(Thr602Met)" "" "0000520423" "00024146" "50" "1999" "0" "1999" "0" "c.1999A>T" "r.(?)" "p.(Met667Leu)" "" "0000520423" "00024233" "50" "1939" "0" "1939" "0" "c.1939A>T" "r.(?)" "p.(Met647Leu)" "" "0000520424" "00024146" "50" "2308" "0" "2308" "0" "c.2308A>G" "r.(?)" "p.(Ile770Val)" "" "0000520424" "00024233" "50" "2248" "0" "2248" "0" "c.2248A>G" "r.(?)" "p.(Ile750Val)" "" "0000520425" "00024146" "10" "2467" "-17" "2467" "-17" "c.2467-17T>C" "r.(=)" "p.(=)" "" "0000520425" "00024233" "10" "2407" "-17" "2407" "-17" "c.2407-17T>C" "r.(=)" "p.(=)" "" "0000520426" "00024146" "10" "2467" "-17" "2467" "-17" "c.2467-17T>C" "r.(=)" "p.(=)" "" "0000520426" "00024233" "10" "2407" "-17" "2407" "-17" "c.2407-17T>C" "r.(=)" "p.(=)" "" "0000520427" "00024146" "50" "2474" "0" "2474" "0" "c.2474T>C" "r.(?)" "p.(Ile825Thr)" "" "0000520427" "00024233" "50" "2414" "0" "2414" "0" "c.2414T>C" "r.(?)" "p.(Ile805Thr)" "" "0000520428" "00024146" "30" "2622" "0" "2622" "0" "c.2622G>A" "r.(?)" "p.(Lys874=)" "" "0000520428" "00024233" "30" "2562" "0" "2562" "0" "c.2562G>A" "r.(?)" "p.(Lys854=)" "" "0000520429" "00024146" "10" "2682" "-16" "2682" "-16" "c.2682-16C>T" "r.(=)" "p.(=)" "" "0000520429" "00024233" "10" "2622" "-16" "2622" "-16" "c.2622-16C>T" "r.(=)" "p.(=)" "" "0000520430" "00024146" "50" "2711" "0" "2711" "0" "c.2711A>G" "r.(?)" "p.(Asn904Ser)" "" "0000520430" "00024233" "50" "2651" "0" "2651" "0" "c.2651A>G" "r.(?)" "p.(Asn884Ser)" "" "0000520431" "00024146" "30" "2789" "0" "2789" "0" "c.2789G>A" "r.(?)" "p.(Arg930His)" "" "0000520431" "00024233" "30" "2729" "0" "2729" "0" "c.2729G>A" "r.(?)" "p.(Arg910His)" "" "0000520432" "00024146" "30" "2802" "0" "2802" "0" "c.2802C>T" "r.(?)" "p.(Phe934=)" "" "0000520432" "00024233" "30" "2742" "0" "2742" "0" "c.2742C>T" "r.(?)" "p.(Phe914=)" "" "0000520433" "00024146" "30" "2826" "0" "2826" "0" "c.2826T>G" "r.(?)" "p.(Phe942Leu)" "" "0000520433" "00024233" "30" "2766" "0" "2766" "0" "c.2766T>G" "r.(?)" "p.(Phe922Leu)" "" "0000520434" "00024146" "10" "2865" "0" "2865" "0" "c.2865G>C" "r.(?)" "p.(Leu955=)" "" "0000520434" "00024233" "10" "2805" "0" "2805" "0" "c.2805G>C" "r.(?)" "p.(Leu935=)" "" "0000520435" "00024146" "10" "3339" "0" "3339" "0" "c.3339G>T" "r.(?)" "p.(Ala1113=)" "" "0000520435" "00024233" "10" "3279" "0" "3279" "0" "c.3279G>T" "r.(?)" "p.(Ala1093=)" "" "0000520436" "00024146" "10" "3357" "0" "3357" "0" "c.3357G>A" "r.(?)" "p.(Thr1119=)" "" "0000520436" "00024233" "10" "3297" "0" "3297" "0" "c.3297G>A" "r.(?)" "p.(Thr1099=)" "" "0000520437" "00024146" "50" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Asp1132Asn)" "" "0000520437" "00024233" "50" "3334" "0" "3334" "0" "c.3334G>A" "r.(?)" "p.(Asp1112Asn)" "" "0000520438" "00024146" "50" "3631" "0" "3631" "0" "c.3631A>C" "r.(?)" "p.(Lys1211Gln)" "" "0000520438" "00024233" "50" "3571" "0" "3571" "0" "c.3571A>C" "r.(?)" "p.(Lys1191Gln)" "" "0000520439" "00024146" "30" "3808" "0" "3808" "0" "c.3808G>A" "r.(?)" "p.(Val1270Ile)" "" "0000520439" "00024233" "30" "3748" "0" "3748" "0" "c.3748G>A" "r.(?)" "p.(Val1250Ile)" "" "0000520440" "00024146" "50" "4288" "0" "4290" "0" "c.4288_4290del" "r.(?)" "p.(Glu1430del)" "" "0000520440" "00024233" "50" "4228" "0" "4230" "0" "c.4228_4230del" "r.(?)" "p.(Glu1410del)" "" "0000520441" "00024146" "10" "4728" "0" "4728" "0" "c.4728G>A" "r.(?)" "p.(Thr1576=)" "" "0000520441" "00024233" "10" "4668" "0" "4668" "0" "c.4668G>A" "r.(?)" "p.(Thr1556=)" "" "0000520442" "00024146" "10" "4731" "0" "4731" "0" "c.4731T>C" "r.(?)" "p.(Ala1577=)" "" "0000520442" "00024233" "10" "4671" "0" "4671" "0" "c.4671T>C" "r.(?)" "p.(Ala1557=)" "" "0000520443" "00024146" "30" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Glu1693Lys)" "" "0000520443" "00024233" "30" "5017" "0" "5017" "0" "c.5017G>A" "r.(?)" "p.(Glu1673Lys)" "" "0000520444" "00024146" "50" "5132" "0" "5132" "0" "c.5132A>T" "r.(?)" "p.(Asn1711Ile)" "" "0000520444" "00024233" "50" "5072" "0" "5072" "0" "c.5072A>T" "r.(?)" "p.(Asn1691Ile)" "" "0000520445" "00024146" "30" "5315" "0" "5315" "0" "c.5315C>T" "r.(?)" "p.(Thr1772Ile)" "" "0000520445" "00024233" "30" "5255" "0" "5255" "0" "c.5255C>T" "r.(?)" "p.(Thr1752Ile)" "" "0000520446" "00024146" "30" "5356" "0" "5356" "0" "c.5356G>C" "r.(?)" "p.(Ala1786Pro)" "" "0000520446" "00024233" "30" "5296" "0" "5296" "0" "c.5296G>C" "r.(?)" "p.(Ala1766Pro)" "" "0000520448" "00024146" "10" "5809" "15" "5809" "15" "c.5809+15T>C" "r.(=)" "p.(=)" "" "0000520448" "00024233" "10" "5749" "15" "5749" "15" "c.5749+15T>C" "r.(=)" "p.(=)" "" "0000520449" "00024146" "50" "5815" "0" "5815" "0" "c.5815C>T" "r.(?)" "p.(Arg1939Trp)" "" "0000520449" "00024233" "50" "5755" "0" "5755" "0" "c.5755C>T" "r.(?)" "p.(Arg1919Trp)" "" "0000520450" "00024146" "50" "5848" "0" "5848" "0" "c.5848C>T" "r.(?)" "p.(Arg1950Trp)" "" "0000520450" "00024233" "50" "5788" "0" "5788" "0" "c.5788C>T" "r.(?)" "p.(Arg1930Trp)" "" "0000520452" "00024146" "30" "5996" "0" "5996" "0" "c.5996G>A" "r.(?)" "p.(Arg1999Gln)" "" "0000520452" "00024233" "30" "5936" "0" "5936" "0" "c.5936G>A" "r.(?)" "p.(Arg1979Gln)" "" "0000520453" "00024146" "30" "6053" "0" "6053" "0" "c.6053C>A" "r.(?)" "p.(Thr2018Asn)" "" "0000520453" "00024233" "30" "5993" "0" "5993" "0" "c.5993C>A" "r.(?)" "p.(Thr1998Asn)" "" "0000520454" "00024146" "50" "6053" "0" "6053" "0" "c.6053C>A" "r.(?)" "p.(Thr2018Asn)" "" "0000520454" "00024233" "50" "5993" "0" "5993" "0" "c.5993C>A" "r.(?)" "p.(Thr1998Asn)" "" "0000520455" "00024146" "50" "6433" "0" "6433" "0" "c.6433C>T" "r.(?)" "p.(Arg2145Trp)" "" "0000520455" "00024233" "50" "6373" "0" "6373" "0" "c.6373C>T" "r.(?)" "p.(Arg2125Trp)" "" "0000520456" "00024146" "10" "6504" "0" "6504" "0" "c.6504G>A" "r.(?)" "p.(Glu2168=)" "" "0000520456" "00024233" "10" "6444" "0" "6444" "0" "c.6444G>A" "r.(?)" "p.(Glu2148=)" "" "0000608817" "00024146" "30" "68" "-8" "68" "-8" "c.68-8C>T" "r.(=)" "p.(=)" "" "0000608817" "00024233" "30" "68" "-8" "68" "-8" "c.68-8C>T" "r.(=)" "p.(=)" "" "0000608818" "00024146" "50" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "" "0000608818" "00024233" "50" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "" "0000608819" "00024146" "30" "378" "-7" "378" "-7" "c.378-7T>A" "r.(=)" "p.(=)" "" "0000608819" "00024233" "30" "378" "-7" "378" "-7" "c.378-7T>A" "r.(=)" "p.(=)" "" "0000608820" "00024146" "30" "484" "-4" "484" "-4" "c.484-4A>G" "r.spl?" "p.?" "" "0000608820" "00024233" "30" "484" "-4" "484" "-4" "c.484-4A>G" "r.spl?" "p.?" "" "0000608821" "00024146" "30" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Glu215=)" "" "0000608821" "00024233" "30" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Glu215=)" "" "0000608822" "00024146" "30" "1351" "0" "1351" "0" "c.1351G>C" "r.(?)" "p.(Glu451Gln)" "" "0000608822" "00024233" "30" "1351" "0" "1351" "0" "c.1351G>C" "r.(?)" "p.(Glu451Gln)" "" "0000608823" "00024146" "50" "1697" "0" "1697" "0" "c.1697A>G" "r.(?)" "p.(Asn566Ser)" "" "0000608823" "00024233" "50" "1637" "0" "1637" "0" "c.1637A>G" "r.(?)" "p.(Asn546Ser)" "" "0000608824" "00024146" "30" "2466" "5" "2466" "5" "c.2466+5G>A" "r.spl?" "p.?" "" "0000608824" "00024233" "30" "2406" "5" "2406" "5" "c.2406+5G>A" "r.spl?" "p.?" "" "0000608825" "00024146" "50" "2789" "0" "2789" "0" "c.2789G>A" "r.(?)" "p.(Arg930His)" "" "0000608825" "00024233" "50" "2729" "0" "2729" "0" "c.2729G>A" "r.(?)" "p.(Arg910His)" "" "0000608826" "00024146" "50" "3433" "0" "3433" "0" "c.3433C>T" "r.(?)" "p.(Arg1145Cys)" "" "0000608826" "00024233" "50" "3373" "0" "3373" "0" "c.3373C>T" "r.(?)" "p.(Arg1125Cys)" "" "0000608829" "00024146" "30" "5749" "0" "5749" "0" "c.5749C>G" "r.(?)" "p.(Pro1917Ala)" "" "0000608829" "00024233" "30" "5689" "0" "5689" "0" "c.5689C>G" "r.(?)" "p.(Pro1897Ala)" "" "0000608830" "00024146" "30" "5946" "0" "5946" "0" "c.5946C>T" "r.(?)" "p.(Ala1982=)" "" "0000608830" "00024233" "30" "5886" "0" "5886" "0" "c.5886C>T" "r.(?)" "p.(Ala1962=)" "" "0000608831" "00024146" "30" "6086" "0" "6086" "0" "c.6086T>A" "r.(?)" "p.(Leu2029Gln)" "" "0000608831" "00024233" "30" "6026" "0" "6026" "0" "c.6026T>A" "r.(?)" "p.(Leu2009Gln)" "" "0000621306" "00024146" "50" "1480" "0" "1480" "0" "c.1480T>C" "r.(?)" "p.(Cys494Arg)" "" "0000621306" "00024233" "50" "1478" "295" "1478" "295" "c.1478+295T>C" "r.(=)" "p.(=)" "" "0000621307" "00024146" "30" "2789" "0" "2789" "0" "c.2789G>A" "r.(?)" "p.(Arg930His)" "" "0000621307" "00024233" "30" "2729" "0" "2729" "0" "c.2729G>A" "r.(?)" "p.(Arg910His)" "" "0000639204" "00024146" "77" "1117" "-600" "1117" "-600" "c.1117-600G>C" "r.(=)" "p.(=)" "7i" "0000639205" "00024146" "99" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Gly403Asp)" "8" "0000639206" "00024146" "99" "1208" "0" "1209" "0" "c.1208_1209insGGG" "r.(?)" "p.(Gly403dup)" "8" "0000639207" "00024146" "99" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Gly407Arg)" "8" "0000639208" "00024146" "77" "2306" "0" "2306" "0" "c.2306C>G" "r.(?)" "p.(Ala769Gly)" "17" "0000639209" "00024146" "99" "2310" "0" "2310" "0" "c.2310C>G" "r.(?)" "p.(Ile770Met)" "17" "0000639210" "00024146" "55" "3543" "0" "3543" "0" "c.3543del" "r.(?)" "p.(Glu1182Serfs*19)" "28" "0000651304" "00024146" "30" "2612" "0" "2612" "0" "c.2612T>G" "r.(?)" "p.(Leu871Trp)" "" "0000651304" "00024233" "30" "2552" "0" "2552" "0" "c.2552T>G" "r.(?)" "p.(Leu851Trp)" "" "0000651305" "00024146" "50" "2789" "0" "2789" "0" "c.2789G>A" "r.(?)" "p.(Arg930His)" "" "0000651305" "00024233" "50" "2729" "0" "2729" "0" "c.2729G>A" "r.(?)" "p.(Arg910His)" "" "0000651306" "00024146" "10" "4014" "0" "4014" "0" "c.4014C>T" "r.(=)" "p.(=)" "" "0000651306" "00024233" "10" "3954" "0" "3954" "0" "c.3954C>T" "r.(=)" "p.(=)" "" "0000651307" "00024146" "10" "6111" "0" "6111" "0" "c.6111G>A" "r.(=)" "p.(=)" "" "0000651307" "00024233" "10" "6051" "0" "6051" "0" "c.6051G>A" "r.(=)" "p.(=)" "" "0000655005" "00024146" "10" "2871" "17" "2871" "17" "c.2871+17G>C" "r.(=)" "p.(=)" "" "0000655005" "00024233" "10" "2811" "17" "2811" "17" "c.2811+17G>C" "r.(=)" "p.(=)" "" "0000655006" "00024146" "10" "5496" "-17" "5496" "-17" "c.5496-17C>T" "r.(=)" "p.(=)" "" "0000655006" "00024233" "10" "5436" "-17" "5436" "-17" "c.5436-17C>T" "r.(=)" "p.(=)" "" "0000669774" "00024146" "10" "4014" "0" "4014" "0" "c.4014C>T" "r.(=)" "p.(=)" "" "0000669774" "00024233" "10" "3954" "0" "3954" "0" "c.3954C>T" "r.(=)" "p.(=)" "" "0000669775" "00024146" "10" "6111" "0" "6111" "0" "c.6111G>A" "r.(=)" "p.(=)" "" "0000669775" "00024233" "10" "6051" "0" "6051" "0" "c.6051G>A" "r.(=)" "p.(=)" "" "0000677070" "00024146" "50" "1220" "5" "1220" "5" "c.1220+5G>A" "r.spl?" "p.?" "" "0000677070" "00024233" "50" "1220" "695" "1220" "695" "c.1220+695G>A" "r.(=)" "p.(=)" "" "0000689130" "00024146" "50" "2773" "0" "2773" "0" "c.2773G>A" "r.(?)" "p.(Ala925Thr)" "" "0000689130" "00024233" "50" "2713" "0" "2713" "0" "c.2713G>A" "r.(?)" "p.(Ala905Thr)" "" "0000719558" "00024146" "30" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Lys411=)" "" "0000719558" "00024233" "30" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Lys411=)" "" "0000719559" "00024146" "50" "1697" "0" "1697" "0" "c.1697A>G" "r.(?)" "p.(Asn566Ser)" "" "0000719559" "00024233" "50" "1637" "0" "1637" "0" "c.1637A>G" "r.(?)" "p.(Asn546Ser)" "" "0000719560" "00024146" "50" "3913" "0" "3913" "0" "c.3913G>A" "r.(?)" "p.(Ala1305Thr)" "" "0000719560" "00024233" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Ala1285Thr)" "" "0000719561" "00024146" "50" "5768" "0" "5768" "0" "c.5768G>A" "r.(?)" "p.(Arg1923Gln)" "" "0000719561" "00024233" "50" "5708" "0" "5708" "0" "c.5708G>A" "r.(?)" "p.(Arg1903Gln)" "" "0000719562" "00024146" "50" "5947" "0" "5947" "0" "c.5947G>A" "r.(?)" "p.(Gly1983Ser)" "" "0000719562" "00024233" "50" "5887" "0" "5887" "0" "c.5887G>A" "r.(?)" "p.(Gly1963Ser)" "" "0000719563" "00024146" "50" "5996" "0" "5996" "0" "c.5996G>C" "r.(?)" "p.(Arg1999Pro)" "" "0000719563" "00024233" "50" "5936" "0" "5936" "0" "c.5936G>C" "r.(?)" "p.(Arg1979Pro)" "" "0000763819" "00024146" "50" "2441" "0" "2441" "0" "c.2441A>G" "r.(?)" "p.(Asn814Ser)" "" "0000763819" "00024233" "50" "2381" "0" "2381" "0" "c.2381A>G" "r.(?)" "p.(Asn794Ser)" "" "0000801337" "00024146" "50" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Ala661Thr)" "" "0000801337" "00024233" "50" "1921" "0" "1921" "0" "c.1921G>A" "r.(?)" "p.(Ala641Thr)" "" "0000801338" "00024146" "30" "2850" "0" "2850" "0" "c.2850T>C" "r.(?)" "p.(Phe950=)" "" "0000801338" "00024233" "30" "2790" "0" "2790" "0" "c.2790T>C" "r.(?)" "p.(Phe930=)" "" "0000801339" "00024146" "30" "3881" "0" "3881" "0" "c.3881C>T" "r.(?)" "p.(Ser1294Phe)" "" "0000801339" "00024233" "30" "3821" "0" "3821" "0" "c.3821C>T" "r.(?)" "p.(Ser1274Phe)" "" "0000801340" "00024146" "30" "3914" "0" "3914" "0" "c.3914C>T" "r.(?)" "p.(Ala1305Val)" "" "0000801340" "00024233" "30" "3854" "0" "3854" "0" "c.3854C>T" "r.(?)" "p.(Ala1285Val)" "" "0000801341" "00024146" "50" "5218" "0" "5218" "0" "c.5218C>T" "r.(?)" "p.(Pro1740Ser)" "" "0000801341" "00024233" "50" "5158" "0" "5158" "0" "c.5158C>T" "r.(?)" "p.(Pro1720Ser)" "" "0000801342" "00024146" "50" "5534" "0" "5534" "0" "c.5534G>A" "r.(?)" "p.(Arg1845Gln)" "" "0000801342" "00024233" "50" "5474" "0" "5474" "0" "c.5474G>A" "r.(?)" "p.(Arg1825Gln)" "" "0000801343" "00024146" "30" "5556" "0" "5556" "0" "c.5556C>T" "r.(?)" "p.(Gly1852=)" "" "0000801343" "00024233" "30" "5496" "0" "5496" "0" "c.5496C>T" "r.(?)" "p.(Gly1832=)" "" "0000801344" "00024146" "30" "6504" "0" "6504" "0" "c.6504G>A" "r.(?)" "p.(Glu2168=)" "" "0000801344" "00024233" "30" "6444" "0" "6444" "0" "c.6444G>A" "r.(?)" "p.(Glu2148=)" "" "0000845968" "00024146" "50" "484" "-1857" "484" "-1857" "c.484-1857C>T" "" "" "" "0000845968" "00024233" "50" "484" "-1857" "484" "-1857" "c.484-1857C>T" "" "" "" "0000850388" "00024146" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Tyr371Ser)" "" "0000850388" "00024233" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Tyr371Ser)" "" "0000850389" "00024146" "50" "3194" "0" "3194" "0" "c.3194C>T" "r.(?)" "p.(Thr1065Met)" "" "0000850389" "00024233" "50" "3134" "0" "3134" "0" "c.3134C>T" "r.(?)" "p.(Thr1045Met)" "" "0000850390" "00024146" "10" "6453" "0" "6453" "0" "c.6453G>A" "r.(?)" "p.(Gln2151=)" "" "0000850390" "00024233" "10" "6393" "0" "6393" "0" "c.6393G>A" "r.(?)" "p.(Gln2131=)" "" "0000859107" "00024146" "50" "2129" "0" "2129" "0" "c.2129A>G" "r.(?)" "p.(Asn710Ser)" "" "0000859107" "00024233" "50" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "" "0000859108" "00024146" "30" "3339" "0" "3339" "0" "c.3339G>A" "r.(?)" "p.(Ala1113=)" "" "0000859108" "00024233" "30" "3279" "0" "3279" "0" "c.3279G>A" "r.(?)" "p.(Ala1093=)" "" "0000859109" "00024146" "50" "3506" "0" "3506" "0" "c.3506G>A" "r.(?)" "p.(Gly1169Asp)" "" "0000859109" "00024233" "50" "3446" "0" "3446" "0" "c.3446G>A" "r.(?)" "p.(Gly1149Asp)" "" "0000859110" "00024146" "30" "3736" "-6" "3736" "-6" "c.3736-6C>T" "r.(=)" "p.(=)" "" "0000859110" "00024233" "30" "3676" "-6" "3676" "-6" "c.3676-6C>T" "r.(=)" "p.(=)" "" "0000870940" "00024146" "90" "2300" "0" "2300" "0" "c.2300T>C" "r.(?)" "p.(Phe767Ser)" "" "0000885938" "00024146" "30" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" "0000885938" "00024233" "30" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" "0000885939" "00024146" "30" "767" "-12" "767" "-12" "c.767-12dup" "r.(=)" "p.(=)" "" "0000885939" "00024233" "30" "767" "-12" "767" "-12" "c.767-12dup" "r.(=)" "p.(=)" "" "0000885940" "00024146" "50" "1003" "0" "1003" "0" "c.1003A>C" "r.(?)" "p.(Ser335Arg)" "" "0000885940" "00024233" "50" "1003" "0" "1003" "0" "c.1003A>C" "r.(?)" "p.(Ser335Arg)" "" "0000885941" "00024146" "30" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Ser469=)" "" "0000885941" "00024233" "30" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Ser469=)" "" "0000885942" "00024146" "30" "2058" "0" "2058" "0" "c.2058G>A" "r.(?)" "p.(Leu686=)" "" "0000885942" "00024233" "30" "1998" "0" "1998" "0" "c.1998G>A" "r.(?)" "p.(Leu666=)" "" "0000885943" "00024146" "30" "2483" "0" "2483" "0" "c.2483A>T" "r.(?)" "p.(Tyr828Phe)" "" "0000885943" "00024233" "30" "2423" "0" "2423" "0" "c.2423A>T" "r.(?)" "p.(Tyr808Phe)" "" "0000885944" "00024146" "30" "2517" "0" "2517" "0" "c.2517G>A" "r.(?)" "p.(Pro839=)" "" "0000885944" "00024233" "30" "2457" "0" "2457" "0" "c.2457G>A" "r.(?)" "p.(Pro819=)" "" "0000885945" "00024146" "30" "2865" "0" "2865" "0" "c.2865G>C" "r.(?)" "p.(Leu955=)" "" "0000885945" "00024233" "30" "2805" "0" "2805" "0" "c.2805G>C" "r.(?)" "p.(Leu935=)" "" "0000885946" "00024146" "50" "3290" "0" "3290" "0" "c.3290G>C" "r.(?)" "p.(Trp1097Ser)" "" "0000885946" "00024233" "50" "3230" "0" "3230" "0" "c.3230G>C" "r.(?)" "p.(Trp1077Ser)" "" "0000885947" "00024146" "50" "3610" "0" "3610" "0" "c.3610C>A" "r.(?)" "p.(Pro1204Thr)" "" "0000885947" "00024233" "50" "3550" "0" "3550" "0" "c.3550C>A" "r.(?)" "p.(Pro1184Thr)" "" "0000885948" "00024146" "30" "3930" "13" "3930" "13" "c.3930+13C>G" "r.(=)" "p.(=)" "" "0000885948" "00024233" "30" "3870" "13" "3870" "13" "c.3870+13C>G" "r.(=)" "p.(=)" "" "0000885949" "00024146" "30" "5752" "0" "5752" "0" "c.5752G>A" "r.(?)" "p.(Val1918Ile)" "" "0000885949" "00024233" "30" "5692" "0" "5692" "0" "c.5692G>A" "r.(?)" "p.(Val1898Ile)" "" "0000885950" "00024146" "30" "5827" "0" "5829" "0" "c.5827_5829del" "r.(?)" "p.(Phe1943del)" "" "0000885950" "00024233" "30" "5767" "0" "5769" "0" "c.5767_5769del" "r.(?)" "p.(Phe1923del)" "" "0000885951" "00024146" "30" "6053" "0" "6053" "0" "c.6053C>A" "r.(?)" "p.(Thr2018Asn)" "" "0000885951" "00024233" "30" "5993" "0" "5993" "0" "c.5993C>A" "r.(?)" "p.(Thr1998Asn)" "" "0000911981" "00024146" "10" "4746" "0" "4746" "0" "c.4746C>T" "r.(?)" "p.(Thr1582=)" "" "0000911981" "00024233" "10" "4686" "0" "4686" "0" "c.4686C>T" "r.(?)" "p.(Thr1562=)" "" "0000911982" "00024146" "10" "6171" "0" "6171" "0" "c.6171A>G" "r.(?)" "p.(Thr2057=)" "" "0000911982" "00024233" "10" "6111" "0" "6111" "0" "c.6111A>G" "r.(?)" "p.(Thr2037=)" "" "0000918569" "00024233" "50" "416" "0" "416" "0" "c.416A>G" "r.(?)" "p.(Asn139Ser)" "" "0000923975" "00024146" "30" "484" "-17" "484" "-17" "c.484-17T>A" "r.(=)" "p.(=)" "" "0000923975" "00024233" "30" "484" "-17" "484" "-17" "c.484-17T>A" "r.(=)" "p.(=)" "" "0000923976" "00024146" "30" "2082" "0" "2082" "0" "c.2082C>G" "r.(?)" "p.(Gly694=)" "" "0000923976" "00024233" "30" "2022" "0" "2022" "0" "c.2022C>G" "r.(?)" "p.(Gly674=)" "" "0000923977" "00024146" "30" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Ala878Val)" "" "0000923977" "00024233" "30" "2573" "0" "2573" "0" "c.2573C>T" "r.(?)" "p.(Ala858Val)" "" "0000923978" "00024146" "50" "3917" "0" "3919" "0" "c.3917_3919del" "r.(?)" "p.(Leu1306_Ser1307delinsArg)" "" "0000923978" "00024233" "50" "3857" "0" "3859" "0" "c.3857_3859del" "r.(?)" "p.(Leu1286_Ser1287delinsArg)" "" "0000923979" "00024146" "50" "5356" "0" "5356" "0" "c.5356G>C" "r.(?)" "p.(Ala1786Pro)" "" "0000923979" "00024233" "50" "5296" "0" "5296" "0" "c.5296G>C" "r.(?)" "p.(Ala1766Pro)" "" "0000923980" "00024146" "50" "6053" "0" "6053" "0" "c.6053C>A" "r.(?)" "p.(Thr2018Asn)" "" "0000923980" "00024233" "50" "5993" "0" "5993" "0" "c.5993C>A" "r.(?)" "p.(Thr1998Asn)" "" "0000933813" "00024233" "50" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(His298Arg)" "" "0000948195" "00024146" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Tyr88=)" "" "0000948195" "00024233" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Tyr88=)" "" "0000948196" "00024146" "30" "1650" "0" "1650" "0" "c.1650C>T" "r.(?)" "p.(Ile550=)" "" "0000948196" "00024233" "30" "1590" "0" "1590" "0" "c.1590C>T" "r.(?)" "p.(Ile530=)" "" "0000948197" "00024146" "30" "3913" "0" "3913" "0" "c.3913G>A" "r.(?)" "p.(Ala1305Thr)" "" "0000948197" "00024233" "30" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Ala1285Thr)" "" "0000962854" "00024146" "50" "1291" "0" "1291" "0" "c.1291C>A" "r.(?)" "p.(Leu431Met)" "" "0000962854" "00024233" "50" "1291" "0" "1291" "0" "c.1291C>A" "r.(?)" "p.(Leu431Met)" "" "0000962857" "00024146" "50" "4191" "0" "4191" "0" "c.4191G>A" "r.(?)" "p.(Met1397Ile)" "" "0000962857" "00024233" "50" "4131" "0" "4131" "0" "c.4131G>A" "r.(?)" "p.(Met1377Ile)" "" "0000975936" "00024146" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246*)" "" "0000975936" "00024233" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246*)" "" "0000975937" "00024146" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Tyr371Ser)" "" "0000975937" "00024233" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Tyr371Ser)" "" "0000975938" "00024146" "50" "1478" "4" "1478" "4" "c.1478+4A>C" "r.spl?" "p.?" "" "0000975938" "00024233" "50" "1478" "4" "1478" "4" "c.1478+4A>C" "r.spl?" "p.?" "" "0000975939" "00024146" "50" "1865" "0" "1865" "0" "c.1865C>T" "r.(?)" "p.(Thr622Met)" "" "0000975939" "00024233" "50" "1805" "0" "1805" "0" "c.1805C>T" "r.(?)" "p.(Thr602Met)" "" "0000975940" "00024146" "50" "2129" "0" "2129" "0" "c.2129A>G" "r.(?)" "p.(Asn710Ser)" "" "0000975940" "00024233" "50" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "" "0000975941" "00024146" "50" "2495" "0" "2495" "0" "c.2495A>G" "r.(?)" "p.(Asp832Gly)" "" "0000975941" "00024233" "50" "2435" "0" "2435" "0" "c.2435A>G" "r.(?)" "p.(Asp812Gly)" "" "0000975942" "00024146" "50" "3913" "0" "3913" "0" "c.3913G>A" "r.(?)" "p.(Ala1305Thr)" "" "0000975942" "00024233" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Ala1285Thr)" "" "0000975943" "00024146" "50" "4866" "0" "4866" "0" "c.4866C>T" "r.(?)" "p.(=)" "" "0000975943" "00024233" "50" "4806" "0" "4806" "0" "c.4806C>T" "r.(?)" "p.(=)" "" "0000993817" "00024146" "30" "71" "0" "71" "0" "c.71C>G" "r.(?)" "p.(Ala24Gly)" "" "0000993817" "00024233" "30" "71" "0" "71" "0" "c.71C>G" "r.(?)" "p.(Ala24Gly)" "" "0000993818" "00024146" "50" "320" "0" "320" "0" "c.320T>G" "r.(?)" "p.(Phe107Cys)" "" "0000993818" "00024233" "50" "320" "0" "320" "0" "c.320T>G" "r.(?)" "p.(Phe107Cys)" "" "0000993819" "00024146" "30" "391" "0" "391" "0" "c.391T>C" "r.(?)" "p.(Phe131Leu)" "" "0000993819" "00024233" "30" "391" "0" "391" "0" "c.391T>C" "r.(?)" "p.(Phe131Leu)" "" "0000993820" "00024146" "30" "766" "18" "766" "20" "c.766+18_766+20del" "r.(=)" "p.(=)" "" "0000993820" "00024233" "30" "766" "18" "766" "20" "c.766+18_766+20del" "r.(=)" "p.(=)" "" "0000993821" "00024146" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Ile448=)" "" "0000993821" "00024233" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Ile448=)" "" "0000993822" "00024146" "30" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Gly490Glu)" "" "0000993822" "00024233" "30" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Gly490Glu)" "" "0000993823" "00024146" "30" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526His)" "" "0000993823" "00024233" "30" "1517" "0" "1517" "0" "c.1517G>A" "r.(?)" "p.(Arg506His)" "" "0000993824" "00024146" "50" "2246" "0" "2246" "0" "c.2246G>C" "r.(?)" "p.(Cys749Ser)" "" "0000993824" "00024233" "50" "2186" "0" "2186" "0" "c.2186G>C" "r.(?)" "p.(Cys729Ser)" "" "0000993825" "00024146" "30" "2601" "0" "2601" "0" "c.2601G>A" "r.(?)" "p.(=)" "" "0000993825" "00024233" "30" "2541" "0" "2541" "0" "c.2541G>A" "r.(?)" "p.(=)" "" "0000993826" "00024146" "30" "3421" "0" "3421" "0" "c.3421A>G" "r.(?)" "p.(Ile1141Val)" "" "0000993826" "00024233" "30" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Ile1121Val)" "" "0000993827" "00024146" "50" "3631" "0" "3631" "0" "c.3631A>C" "r.(?)" "p.(Lys1211Gln)" "" "0000993827" "00024233" "50" "3571" "0" "3571" "0" "c.3571A>C" "r.(?)" "p.(Lys1191Gln)" "" "0000993828" "00024146" "30" "3742" "0" "3742" "0" "c.3742G>A" "r.(?)" "p.(Glu1248Lys)" "" "0000993828" "00024233" "30" "3682" "0" "3682" "0" "c.3682G>A" "r.(?)" "p.(Glu1228Lys)" "" "0000993829" "00024146" "30" "4853" "-6" "4853" "-6" "c.4853-6G>A" "r.(=)" "p.(=)" "" "0000993829" "00024233" "30" "4793" "-6" "4793" "-6" "c.4793-6G>A" "r.(=)" "p.(=)" "" "0000993830" "00024146" "30" "6265" "0" "6265" "0" "c.6265G>A" "r.(?)" "p.(Glu2089Lys)" "" "0000993830" "00024233" "30" "6205" "0" "6205" "0" "c.6205G>A" "r.(?)" "p.(Glu2069Lys)" "" "0000993831" "00024146" "50" "6275" "0" "6275" "0" "c.6275G>A" "r.(?)" "p.(Gly2092Glu)" "" "0000993831" "00024233" "50" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Gly2072Glu)" "" "0001013910" "00024146" "10" "2721" "0" "2721" "0" "c.2721C>T" "r.(?)" "p.(=)" "" "0001013910" "00024233" "10" "2661" "0" "2661" "0" "c.2661C>T" "r.(?)" "p.(=)" "" "0001013911" "00024146" "50" "3881" "0" "3881" "0" "c.3881C>T" "r.(?)" "p.(Ser1294Phe)" "" "0001013911" "00024233" "50" "3821" "0" "3821" "0" "c.3821C>T" "r.(?)" "p.(Ser1274Phe)" "" "0001019335" "00024233" "30" "5767" "0" "5769" "0" "c.5767_5769del" "r.(?)" "p.(Phe1923del)" "" "0001024850" "00024146" "50" "3761" "0" "3761" "0" "c.3761A>G" "r.(?)" "p.(Asn1254Ser)" "" "0001024850" "00024233" "50" "3701" "0" "3701" "0" "c.3701A>G" "r.(?)" "p.(Asn1234Ser)" "" "0001024851" "00024146" "30" "3913" "0" "3913" "0" "c.3913G>A" "r.(?)" "p.(Ala1305Thr)" "" "0001024851" "00024233" "30" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Ala1285Thr)" "" "0001024852" "00024146" "10" "6252" "0" "6252" "0" "c.6252A>G" "r.(?)" "p.(=)" "" "0001024852" "00024233" "10" "6192" "0" "6192" "0" "c.6192A>G" "r.(?)" "p.(=)" "" "0001034093" "00024146" "30" "291" "0" "291" "0" "c.291G>T" "r.(?)" "p.(=)" "" "0001034093" "00024233" "30" "291" "0" "291" "0" "c.291G>T" "r.(?)" "p.(=)" "" "0001034094" "00024146" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Ile287Val)" "" "0001034094" "00024233" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Ile287Val)" "" "0001034095" "00024146" "50" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Ala376Val)" "" "0001034095" "00024233" "50" "1220" "597" "1220" "597" "c.1220+597C>T" "r.(=)" "p.(=)" "" "0001034096" "00024146" "50" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Arg486Gln)" "" "0001034096" "00024233" "50" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Arg486Gln)" "" "0001034097" "00024146" "50" "2310" "0" "2310" "0" "c.2310C>A" "r.(?)" "p.(Ile770=)" "" "0001034097" "00024233" "50" "2250" "0" "2250" "0" "c.2250C>A" "r.(?)" "p.(Ile750=)" "" "0001034098" "00024146" "50" "3370" "0" "3370" "0" "c.3370C>T" "r.(?)" "p.(Pro1124Ser)" "" "0001034098" "00024233" "50" "3310" "0" "3310" "0" "c.3310C>T" "r.(?)" "p.(Pro1104Ser)" "" "0001034099" "00024146" "30" "3930" "3" "3930" "3" "c.3930+3G>A" "r.spl?" "p.?" "" "0001034099" "00024233" "30" "3870" "3" "3870" "3" "c.3870+3G>A" "r.spl?" "p.?" "" "0001034100" "00024146" "30" "5996" "0" "5996" "0" "c.5996G>C" "r.(?)" "p.(Arg1999Pro)" "" "0001034100" "00024233" "30" "5936" "0" "5936" "0" "c.5936G>C" "r.(?)" "p.(Arg1979Pro)" "" "0001045932" "00024146" "50" "1033" "0" "1033" "0" "c.1033A>C" "r.(?)" "p.(Thr345Pro)" "" "0001045932" "00024233" "50" "1033" "0" "1033" "0" "c.1033A>C" "r.(?)" "p.(Thr345Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003865" "0000000209" "0000003866" "0000000210" "0000011848" "0000000210" "0000011849" "0000000210" "0000011850" "0000064865" "0000096518" "0000100867" "0000163260" "0000101023" "0000163469" "0000101024" "0000163470" "0000101025" "0000163471" "0000101026" "0000163473" "0000101027" "0000163474" "0000101028" "0000163475" "0000101029" "0000163476" "0000101030" "0000163477" "0000101031" "0000163478" "0000101032" "0000163479" "0000181090" "0000404726" "0000283462" "0000639204" "0000283463" "0000639205" "0000283464" "0000639206" "0000283465" "0000639207" "0000283466" "0000639208" "0000283467" "0000639209" "0000283468" "0000639210" "0000294615" "0000651304" "0000294616" "0000651305" "0000294617" "0000651306" "0000294618" "0000651307" "0000306086" "0000669774" "0000306087" "0000669775" "0000363253" "0000763819" "0000408946" "0000845968" "0000413445" "0000870940" "0000432950" "0000918569"