### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CACNA2D4)
# 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}}"
"CACNA2D4"	"calcium channel, voltage-dependent, alpha 2/delta subunit 4"	"12"	"p13.33"	"unknown"	"NG_012663.2"	"UD_132118527986"	""	"https://www.LOVD.nl/CACNA2D4"	""	"1"	"20202"	"93589"	"608171"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font><br>Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/CACNA2D4_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-02-13 00:00:00"	"00006"	"2020-11-12 11:39:23"	"00006"	"2025-01-13 14:41:11"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00004252"	"CACNA2D4"	"calcium channel, voltage-dependent, alpha 2/delta subunit 4"	"001"	"NM_172364.4"	""	"NP_758952.4"	""	""	""	"-231"	"5112"	"3414"	"2027870"	"1901123"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{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"	""	""
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"02949"	"RCD4"	"dystrophy, retinal cone, type 4 (RCD-4)"	"AR"	"610478"	""	""	""	"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"
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"
"04250"	"-"	"retinal degeneration"	""	""	""	""	""	"00006"	"2015-05-04 22:12:01"	""	""
"05103"	"deafness"	"deafness"	""	""	""	""	""	"00006"	"2015-12-02 12:30:46"	"00006"	"2017-08-25 19:47:08"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CACNA2D4"	"02949"


## Individuals ## Do not remove or alter this header ##
## Count = 40
"{{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}}"
"00033146"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00183358"	""	""	""	"1"	""	"00006"	"{PMID:Coppieters 2016:27486781}"	"3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Algeria"	""	"0"	""	""	""	"27486781-FamF5"
"00290652"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290653"	""	""	""	"71"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290654"	""	""	""	"42"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290655"	""	""	""	"18"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304342"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308737"	""	""	""	"1"	""	"00004"	"{PMID:Le 2019:31180159}"	"analysis 305 unrelated individuals"	""	""	"Viet Nam"	""	"0"	""	""	""	""
"00309014"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309015"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00327515"	""	""	""	"3"	""	"00000"	"{PMID:Gustafson 2017:28837078}"	"3-generation family, 3 affected (3F), unaffected heterozygous parents"	"F"	"yes"	"United States"	""	"0"	""	""	"Jewish-Ashkenazi "	"FamPatII4"
"00328317"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"W000244"
"00358946"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case71134"
"00362220"	""	""	""	"1"	""	"04043"	"Fadaie 2021, submitted"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"?"
"00362262"	""	""	""	"1"	""	"02404"	"{PMID:Bahena 2021:34148116}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Pat53"
"00374962"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"M"	""	"China"	""	"0"	""	""	""	"W58-1"
"00375414"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#006"
"00376649"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz-2009:19578023}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00376650"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz-2009:19578023}"	""	""	""	""	""	"0"	""	""	""	""
"00382505"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"367"
"00386300"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-464"
"00386878"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-142"
"00386911"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI943_001892"
"00389283"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 204, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"567"
"00390197"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"W000244"
"00390478"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"W000156"
"00398392"	""	""	""	"1"	""	"00000"	"{PMID:Dan 2020:32364220}"	"uncle of III:2"	"M"	"?"	"China"	""	"0"	""	""	""	""
"00407358"	""	""	""	"1"	""	"00000"	"{PMID:Borràs 2013:23534816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-83"
"00413039"	""	""	""	"1"	""	"00000"	"{PMID:Wycisk 2006:17033974}"	"proband"	"M"	""	""	""	"0"	""	""	""	"II-1"
"00413040"	""	""	""	"1"	""	"00000"	"{PMID:Wycisk 2006:17033974}"	"proband\'s sister"	"F"	""	""	""	"0"	""	""	""	"II-2"
"00413041"	""	""	""	"1"	""	"00000"	"{PMID:Ba-Abbad 2016:26560832}"	"proband"	"F"	"no"	""	""	"0"	""	""	"Indian"	"1"
"00413042"	""	""	""	"1"	""	"00000"	"{PMID:Ba-Abbad 2016:26560832}"	"proband"	"F"	"no"	""	""	"0"	""	""	"Ashkenazi Jewish Romanian"	"2"
"00413043"	""	""	""	"1"	""	"00000"	"{PMID:Chiang 2018:28726569}"	""	"?"	""	"United States"	""	"0"	""	""	"Ashkenazi Jewish"	"?"
"00450730"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"072152"
"00450731"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"072231"
"00450732"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"074196"
"00451036"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"065841"
"00451102"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"070523"
"00451226"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"072195"
"00459539"	""	""	""	"1"	""	"00006"	"{PMID:Szczałuba 2018:30238967}, {PMID:Chmielewska 2024:34527963}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Poland"	""	"0"	""	""	""	"patient;PatB"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 41
"{{individualid}}"	"{{diseaseid}}"
"00033146"	"04214"
"00183358"	"04214"
"00290652"	"00198"
"00290653"	"00198"
"00290654"	"00198"
"00290655"	"00198"
"00304342"	"00198"
"00308737"	"00000"
"00309014"	"04214"
"00309015"	"04214"
"00327515"	"04214"
"00328317"	"04214"
"00358946"	"04214"
"00362220"	"04214"
"00362262"	"04250"
"00362262"	"05103"
"00374962"	"04214"
"00375414"	"04214"
"00376649"	"04214"
"00376650"	"04214"
"00382505"	"04214"
"00386300"	"04214"
"00386878"	"04214"
"00386911"	"04214"
"00389283"	"04214"
"00390197"	"04214"
"00390478"	"04214"
"00398392"	"04214"
"00407358"	"04214"
"00413039"	"04214"
"00413040"	"04214"
"00413041"	"04214"
"00413042"	"04214"
"00413043"	"04214"
"00450730"	"04249"
"00450731"	"04249"
"00450732"	"04249"
"00451036"	"04249"
"00451102"	"04249"
"00451226"	"04249"
"00459539"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02949, 04214, 04249, 04250, 05103, 05611
## Count = 30
"{{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}}"
"0000026575"	"04214"	"00033146"	"00229"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000144094"	"04214"	"00183358"	"00006"	"Familial, autosomal recessive"	""	"progressive pattern-like reticular dystrophy, lung fibrosis"	"48y"	""	""	""	""	""	""	""	"RDEOA"	"retinitis pigmentosa"	""
"0000234334"	"04214"	"00309014"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone–rod dystrophy"	""
"0000234335"	"04214"	"00309015"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000245796"	"04214"	"00327515"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RDMS"	"retinitis pigmentosa"	""
"0000246544"	"04214"	"00328317"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000254244"	"04214"	"00358946"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000257634"	"04214"	"00362220"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270172"	"04214"	"00374962"	"00000"	"Isolated (sporadic)"	"42y"	"best corrected visual acuity 0.3/light perception"	"20y"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000270628"	"04214"	"00375414"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271856"	"04214"	"00376649"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Congenital stationary night blindness"	""
"0000271857"	"04214"	"00376650"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Congenital stationary night blindness"	""
"0000276354"	"04214"	"00382505"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy"	""
"0000280103"	"04214"	"00386300"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280678"	"04214"	"00386878"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280711"	"04214"	"00386911"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000282824"	"04214"	"00389283"	"00000"	"Isolated (sporadic)"	"47y"	"age at genetic diagnosis mentioned"	""	"41y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283735"	"04214"	"00390197"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284016"	"04214"	"00390478"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000291513"	"04214"	"00398392"	"00000"	"Familial, X-linked recessive"	""	"Nyctalopia, vision decline, vision field defect"	""	""	""	""	""	""	""	""	""	"Choroidermia (CHM)"	""
"0000299712"	"04214"	"00407358"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"severe autosomal dominant retinitis pigmentosa (adRP)"	""
"0000305020"	"04214"	"00413039"	"00000"	"Familial, autosomal recessive"	"33y"	"disease course: slight progressive reduction of visual acuity from 20/20 at age 18 years; first subjective changes at age 23y; visual acuity right; left eye: 20/32; 20/32; refractive errora (sph/cyl) right; left eye: -0.75/-0.25; -0.25/-0.50; color vision (confusion index) right; left eye: 1.78; 1.81; dark adaptation: slightly elevated (.5 log unit) final threshold; electroretinogram: scotopic: rod response just below the lower (5th) percentile range of unaffected, mixed rod/cone response (standard flash), slightly reduced; it normal, b/a-wave ratio markedly reduced (\"\"negative\"\" erg), photopic: markedly reduced, prolonged implicit times; anterior segment: normal; fundus: slight mottling of the pigment epithelium in the foveal region, otherwise inconspic"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305021"	"04214"	"00413040"	"00000"	"Familial, autosomal recessive"	"46y"	"disease course: slow progressive reduction of visual acuity; first subjective changes 30y; visual acuity right; left eye: 20/32; 20/32; refractive errora (sph/cyl) right; left eye: -0.50/-0.50; -0.25/-0.50; color vision (confusion index) right; left eye: 2.17; 1.95; dark adaptation: normal final threshold; electroretinogram: scotopic: rod response just below the lower (5th) percentile range of unaffected, mixed rod/cone response (standard flash) slightly reduced, implicit times normal, b/a ratio markedly reduced (\"\"negative\"\" erg), photopic: markedly reduced, prolonged implicit times; anterior segment: posterior synechiae after iridocyclitis (at age 33 years); fundus: left eye, slight mottling of the pigment epithelium in the foveal region, epiretinal gliosis left eye, otherwise inconspic"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305022"	"04214"	"00413041"	"00000"	"Familial, autosomal recessive"	"22y"	"lifelong stable subnormal visual acuity of approximately 20/30, low color discrimination, and photophobia (18y); moderate myopic astigmatism, poor contrast perception, inability to track fast moving objects; no consanguinity, no significant medical or drug history; electroretinogram stable at 4 time points, over an 8-year period, with generalized predominantly inner retinal cone system dysfunction, giving a single flash cone electroretinogram with a distinctive multiphasic b-wave; pattern electroretinogram: delayed and subnormal"	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000305023"	"04214"	"00413042"	"00000"	"Familial, autosomal recessive"	"41y"	"lifelong stable subnormal visual acuity of approximately 20/30, low color discrimination, and photophobia (40y); emmetropic; no parental consanguinity and no other affected family members, 2 brothers and 2 sons apparently have a red-green color defect; electroretinogram: performed twice (9-year interval) - stable generalized predominantly inner retinal cone system dysfunction, giving a cone electroretinogram with a distinctive multiphasic b-wave; attern electroretinogram: subnormal, possible rod dysfunction was noted at follow-up"	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000305024"	"04214"	"00413043"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000339785"	"04249"	"00450730"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000339786"	"04249"	"00450731"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339787"	"04249"	"00450732"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000347616"	"05611"	"00459539"	"00006"	"Isolated (sporadic)"	"05y"	"see paper; ..., pregnancy complicated by maternal kidney stones, hyperemesis; birth-37w cesarean section, weight 3580g (75th), length 56cm (50th), OFC 34cm (25th-50th); no congenital anomalies, no dysmorphic features; feeding difficulties, constipation, frequent infections, slightly raised body temperature, allergy to cow\'s milk; intellectual disability; developmental delay, autistic features; hypotonia; increased immunoglobulin E; 13m-delayed teeth eruption; neurologic sensory; MRI normal non-contrast; no muskuloskeletal anomalies; no cardiac anomalies"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""


## Screenings ## Do not remove or alter this header ##
## Count = 40
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000033214"	"00033146"	"1"	"00229"	"00229"	"2012-02-04 15:20:01"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000184319"	"00183358"	"1"	"00006"	"00006"	"2018-10-23 19:02:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000291820"	"00290652"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291821"	"00290653"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291822"	"00290654"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291823"	"00290655"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305471"	"00304342"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309882"	"00308737"	"1"	"00004"	"00006"	"2020-08-27 15:56:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"105 WGS/200 WES"
"0000310159"	"00309014"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310160"	"00309015"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000328730"	"00327515"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES;WGS"
"0000329532"	"00328317"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000360183"	"00358946"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000363449"	"00362220"	"1"	"04043"	"00006"	"2021-04-16 13:26:31"	""	""	"SEQ-NG"	"DNA"	""	""
"0000363491"	"00362262"	"1"	"02404"	"02404"	"2021-04-18 12:19:28"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000376156"	"00374962"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376611"	"00375414"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377854"	"00376649"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"SEQ; arraySEQ"	"DNA"	""	""
"0000377855"	"00376650"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"arraySEQ"	"DNA"	""	""
"0000383719"	"00382505"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000387529"	"00386300"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000388106"	"00386878"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388139"	"00386911"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000390526"	"00389283"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000391438"	"00390197"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391719"	"00390478"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000399638"	"00398392"	"1"	"00000"	"00008"	"2022-01-05 04:00:26"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000408606"	"00407358"	"1"	"00000"	"00008"	"2022-04-06 13:32:24"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000414310"	"00413039"	"1"	"00000"	"03840"	"2022-07-08 10:58:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414311"	"00413040"	"1"	"00000"	"03840"	"2022-07-08 10:58:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414312"	"00413041"	"1"	"00000"	"03840"	"2022-07-08 14:54:51"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole genome sequencing"
"0000414313"	"00413042"	"1"	"00000"	"03840"	"2022-07-08 14:54:51"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole genome sequencing"
"0000414314"	"00413043"	"1"	"00000"	"03840"	"2022-07-08 15:02:48"	""	""	"PCR"	"DNA"	""	""
"0000452328"	"00450730"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452329"	"00450731"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452330"	"00450732"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452635"	"00451036"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452701"	"00451102"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452825"	"00451226"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000461165"	"00459539"	"1"	"00006"	"00006"	"2025-01-09 09:19:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 30
"{{screeningid}}"	"{{geneid}}"
"0000033214"	"C2orf71"
"0000033214"	"CACNA2D4"
"0000033214"	"CRB1"
"0000033214"	"PDE6B"
"0000184319"	"RCBTB1"
"0000309882"	"CACNA2D4"
"0000310159"	"CACNA2D4"
"0000310160"	"CACNA2D4"
"0000328730"	"C21orf2"
"0000329532"	"CACNA2D4"
"0000363449"	"CACNA2D4"
"0000377854"	"CACNA2D4"
"0000377855"	"CACNA2D4"
"0000383719"	"CACNA2D4"
"0000387529"	"CACNA2D4"
"0000388106"	"CACNA2D4"
"0000388139"	"CACNA2D4"
"0000390526"	"CACNA2D4"
"0000391438"	"CACNA2D4"
"0000391719"	"CACNA2D4"
"0000399638"	"CACNA2D4"
"0000399638"	"CHM"
"0000399638"	"NHLRC2"
"0000399638"	"USH2A"
"0000408606"	"INADL"
"0000414310"	"CACNA2D4"
"0000414311"	"CACNA2D4"
"0000414312"	"CACNA2D4"
"0000414313"	"CACNA2D4"
"0000414314"	"CACNA2D4"


## 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 = 144
"{{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}}"
"0000059612"	"2"	"10"	"12"	"1910299"	"1910299"	"subst"	"0.0226997"	"00229"	"CACNA2D4_000001"	"g.1910299C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	"no"	""	"0"	""	""	"g.1801133C>T"	""	"benign"	""
"0000059613"	"1"	"10"	"12"	"1996254"	"1996254"	"subst"	"2.1787E-5"	"00229"	"CACNA2D4_000002"	"g.1996254G>A"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	"no"	""	"0"	""	""	"g.1887088G>A"	""	"benign"	""
"0000254823"	"0"	"30"	"12"	"1987517"	"1987517"	"subst"	"4.22123E-6"	"01943"	"CACNA2D4_000027"	"g.1987517A>G"	""	""	""	"CACNA2D4(NM_172364.4):c.1683T>C (p.N561=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1878351A>G"	""	"likely benign"	""
"0000256346"	"0"	"50"	"12"	"1902920"	"1902920"	"subst"	"0"	"01943"	"CACNA2D4_000007"	"g.1902920A>C"	""	""	""	"CACNA2D4(NM_172364.4):c.3315T>G (p.N1105K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1793754A>C"	""	"VUS"	""
"0000264158"	"0"	"50"	"12"	"1995193"	"1995193"	"subst"	"4.06474E-5"	"02330"	"CACNA2D4_000033"	"g.1995193C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.1006G>A (p.V336I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1886027C>T"	""	"VUS"	""
"0000264159"	"0"	"10"	"12"	"2027501"	"2027501"	"subst"	"0.000899212"	"02330"	"CACNA2D4_000039"	"g.2027501C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.139G>A (p.V47M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1918335C>T"	""	"benign"	""
"0000264160"	"0"	"50"	"12"	"1988986"	"1988986"	"subst"	"0"	"02330"	"CACNA2D4_000028"	"g.1988986C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.1547G>A (p.S516N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1879820C>T"	""	"VUS"	""
"0000264161"	"0"	"10"	"12"	"1965398"	"1965398"	"subst"	"0.000808411"	"02330"	"CACNA2D4_000024"	"g.1965398G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.2009-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1856232G>A"	""	"benign"	""
"0000264162"	"0"	"10"	"12"	"1965235"	"1965235"	"subst"	"0.00166507"	"02330"	"CACNA2D4_000023"	"g.1965235G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2095C>T (p.L699F), CACNA2D4(NM_172364.5):c.2095C>T (p.L699F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1856069G>A"	""	"benign"	""
"0000264163"	"0"	"10"	"12"	"1965210"	"1965210"	"subst"	"0.00292421"	"02330"	"CACNA2D4_000022"	"g.1965210C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.2120G>A (p.R707H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1856044C>T"	""	"benign"	""
"0000264165"	"0"	"10"	"12"	"2027402"	"2027402"	"subst"	"0.000471647"	"02330"	"CACNA2D4_000037"	"g.2027402G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.227+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1918236G>A"	""	"benign"	""
"0000264166"	"0"	"50"	"12"	"1949940"	"1949940"	"subst"	"0.000670437"	"02330"	"CACNA2D4_000019"	"g.1949940G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2516C>T (p.A839V), CACNA2D4(NM_172364.5):c.2516C>T (p.A839V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1840774G>A"	""	"VUS"	""
"0000264167"	"0"	"10"	"12"	"1920837"	"1920837"	"subst"	"6.13791E-6"	"02330"	"CACNA2D4_000015"	"g.1920837T>G"	""	""	""	"CACNA2D4(NM_172364.5):c.2604A>C (p.A868=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1811671T>G"	""	"benign"	""
"0000264168"	"0"	"10"	"12"	"1909582"	"1909582"	"subst"	"0.000974635"	"02330"	"CACNA2D4_000012"	"g.1909582G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2891C>T (p.A964V), CACNA2D4(NM_172364.5):c.2891C>T (p.A964V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1800416G>A"	""	"benign"	""
"0000264169"	"0"	"50"	"12"	"1909561"	"1909561"	"subst"	"0"	"02330"	"CACNA2D4_000011"	"g.1909561T>C"	""	""	""	"CACNA2D4(NM_172364.5):c.2912A>G (p.E971G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1800395T>C"	""	"VUS"	""
"0000264170"	"0"	"30"	"12"	"1906663"	"1906663"	"subst"	"0.000234881"	"02330"	"CACNA2D4_000009"	"g.1906663C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.3034G>A (p.D1012N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1797497C>T"	""	"likely benign"	""
"0000264171"	"0"	"30"	"12"	"1902879"	"1902879"	"subst"	"0.00215243"	"02330"	"CACNA2D4_000003"	"g.1902879G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.3356C>T (p.P1119L), CACNA2D4(NM_172364.5):c.3356C>T (p.P1119L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1793713G>A"	""	"likely benign"	""
"0000264172"	"0"	"30"	"12"	"2019052"	"2019052"	"subst"	"0.00039999"	"02330"	"CACNA2D4_000036"	"g.2019052G>C"	""	""	""	"CACNA2D4(NM_172364.5):c.486+20C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1909886G>C"	""	"likely benign"	""
"0000264173"	"0"	"10"	"12"	"2027564"	"2027564"	"subst"	"0.000727478"	"02330"	"CACNA2D4_000040"	"g.2027564C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.76G>A (p.A26T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1918398C>T"	""	"benign"	""
"0000264174"	"0"	"10"	"12"	"1995419"	"1995419"	"subst"	"3.24889E-5"	"02330"	"CACNA2D4_000035"	"g.1995419C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.963G>A (p.L321=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1886253C>T"	""	"benign"	""
"0000266455"	"0"	"10"	"12"	"1995403"	"1995403"	"subst"	"0.903127"	"02325"	"CACNA2D4_000034"	"g.1995403T>C"	""	""	""	"CACNA2D4(NM_172364.5):c.979A>G (p.I327V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1886237T>C"	""	"benign"	""
"0000272522"	"0"	"30"	"12"	"1995149"	"1995149"	"subst"	"8.14074E-6"	"01943"	"CACNA2D4_000032"	"g.1995149C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.1050G>A (p.A350=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1885983C>T"	""	"likely benign"	""
"0000272523"	"0"	"50"	"12"	"1992162"	"1992162"	"subst"	"0"	"01943"	"CACNA2D4_000031"	"g.1992162G>C"	""	""	""	"CACNA2D4(NM_172364.4):c.1356C>G (p.Y452*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1882996G>C"	""	"VUS"	""
"0000272524"	"0"	"50"	"12"	"1992095"	"1992095"	"subst"	"2.0391E-5"	"01943"	"CACNA2D4_000030"	"g.1992095G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.1423C>T (p.R475C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1882929G>A"	""	"VUS"	""
"0000272525"	"0"	"30"	"12"	"1984428"	"1984428"	"subst"	"8.56199E-5"	"01943"	"CACNA2D4_000026"	"g.1984428G>C"	""	""	""	"CACNA2D4(NM_172364.4):c.1795C>G (p.Q599E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1875262G>C"	""	"likely benign"	""
"0000272526"	"0"	"30"	"12"	"2027442"	"2027442"	"subst"	"8.56494E-6"	"01943"	"CACNA2D4_000038"	"g.2027442C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.198G>A (p.A66=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1918276C>T"	""	"likely benign"	""
"0000272527"	"0"	"30"	"12"	"1965235"	"1965235"	"subst"	"0.00166507"	"01943"	"CACNA2D4_000023"	"g.1965235G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2095C>T (p.L699F), CACNA2D4(NM_172364.5):c.2095C>T (p.L699F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1856069G>A"	""	"likely benign"	""
"0000272528"	"0"	"30"	"12"	"1963173"	"1963173"	"subst"	"0.00053863"	"01943"	"CACNA2D4_000021"	"g.1963173C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.2190G>A (p.A730=), CACNA2D4(NM_172364.5):c.2190G>A (p.A730=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1854007C>T"	""	"likely benign"	""
"0000272529"	"0"	"50"	"12"	"1949940"	"1949940"	"subst"	"0.000670437"	"01943"	"CACNA2D4_000019"	"g.1949940G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2516C>T (p.A839V), CACNA2D4(NM_172364.5):c.2516C>T (p.A839V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1840774G>A"	""	"VUS"	""
"0000272530"	"0"	"10"	"12"	"1920853"	"1920853"	"subst"	"0.00142132"	"01943"	"CACNA2D4_000016"	"g.1920853C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.2588G>A (p.R863H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1811687C>T"	""	"benign"	""
"0000272531"	"0"	"10"	"12"	"1920835"	"1920835"	"subst"	"0.00135828"	"01943"	"CACNA2D4_000014"	"g.1920835G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2606C>T (p.T869M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1811669G>A"	""	"benign"	""
"0000272532"	"0"	"30"	"12"	"1910218"	"1910218"	"subst"	"0"	"01943"	"CACNA2D4_000013"	"g.1910218G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2859C>T (p.P953=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1801052G>A"	""	"likely benign"	""
"0000272533"	"0"	"30"	"12"	"1909582"	"1909582"	"subst"	"0.000974635"	"01943"	"CACNA2D4_000012"	"g.1909582G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2891C>T (p.A964V), CACNA2D4(NM_172364.5):c.2891C>T (p.A964V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1800416G>A"	""	"likely benign"	""
"0000272534"	"0"	"30"	"12"	"1908868"	"1908868"	"subst"	"0"	"01943"	"CACNA2D4_000010"	"g.1908868G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2975-7C>T, CACNA2D4(NM_172364.5):c.2975-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1799702G>A"	""	"likely benign"	""
"0000272535"	"0"	"50"	"12"	"1906632"	"1906632"	"subst"	"0.00847066"	"01943"	"CACNA2D4_000008"	"g.1906632G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.3065C>T (p.P1022L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1797466G>A"	""	"VUS"	""
"0000272536"	"0"	"50"	"12"	"1902912"	"1902912"	"subst"	"0.000197411"	"01943"	"CACNA2D4_000006"	"g.1902912T>G"	""	""	""	"CACNA2D4(NM_172364.4):c.3323A>C (p.D1108A), CACNA2D4(NM_172364.5):c.3323A>C (p.D1108A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1793746T>G"	""	"VUS"	""
"0000272537"	"0"	"30"	"12"	"1902901"	"1902901"	"subst"	"6.98353E-5"	"01943"	"CACNA2D4_000005"	"g.1902901C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.3334G>A (p.A1112T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1793735C>T"	""	"likely benign"	""
"0000272538"	"0"	"30"	"12"	"1902887"	"1902887"	"subst"	"0.000429476"	"01943"	"CACNA2D4_000004"	"g.1902887T>A"	""	""	""	"CACNA2D4(NM_172364.4):c.3348A>T (p.S1116=), CACNA2D4(NM_172364.5):c.3348A>T (p.S1116=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1793721T>A"	""	"likely benign"	""
"0000272539"	"0"	"30"	"12"	"1902879"	"1902879"	"subst"	"0.00215243"	"01943"	"CACNA2D4_000003"	"g.1902879G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.3356C>T (p.P1119L), CACNA2D4(NM_172364.5):c.3356C>T (p.P1119L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1793713G>A"	""	"likely benign"	""
"0000291226"	"0"	"50"	"12"	"1943855"	"1943855"	"subst"	"3.82966E-5"	"01943"	"CACNA2D4_000018"	"g.1943855G>C"	""	""	""	"LRTM2(NM_001163925.1):c.1081G>C (p.E361Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1834689G>C"	""	"VUS"	""
"0000408347"	"1"	"70"	"12"	"1965243"	"1965243"	"subst"	"0.00377683"	"00006"	"CACNA2D4_000041"	"g.1965243T>C"	""	"{PMID:Coppieters 2016:27486781}"	""	""	"does not associate with phenotype"	"Germline"	""	"rs115228472"	"0"	""	""	"g.1856077T>C"	""	"VUS"	""
"0000408348"	"2"	"50"	"12"	"1965265"	"1965265"	"subst"	"0.0037728"	"00006"	"CACNA2D4_000042"	"g.1965265T>C"	""	"{PMID:Coppieters 2016:27486781}"	""	""	""	"Germline"	""	"rs76224631"	"0"	""	""	"g.1856099T>C"	""	"VUS"	""
"0000547318"	"0"	"10"	"12"	"1902881"	"1902881"	"subst"	"3.26915E-5"	"02330"	"CACNA2D4_000043"	"g.1902881C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.3354G>A (p.S1118=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1793715C>T"	""	"benign"	""
"0000547319"	"0"	"10"	"12"	"1902887"	"1902887"	"subst"	"0.000429476"	"02330"	"CACNA2D4_000004"	"g.1902887T>A"	""	""	""	"CACNA2D4(NM_172364.4):c.3348A>T (p.S1116=), CACNA2D4(NM_172364.5):c.3348A>T (p.S1116=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1793721T>A"	""	"benign"	""
"0000547320"	"0"	"50"	"12"	"1902912"	"1902912"	"subst"	"0.000197411"	"02330"	"CACNA2D4_000006"	"g.1902912T>G"	""	""	""	"CACNA2D4(NM_172364.4):c.3323A>C (p.D1108A), CACNA2D4(NM_172364.5):c.3323A>C (p.D1108A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1793746T>G"	""	"VUS"	""
"0000547321"	"0"	"30"	"12"	"1902930"	"1902930"	"subst"	"2.89345E-5"	"01943"	"CACNA2D4_000044"	"g.1902930G>T"	""	""	""	"CACNA2D4(NM_172364.4):c.3310-5C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1793764G>T"	""	"likely benign"	""
"0000547322"	"0"	"50"	"12"	"1902930"	"1902930"	"subst"	"2.89345E-5"	"02327"	"CACNA2D4_000044"	"g.1902930G>T"	""	""	""	"CACNA2D4(NM_172364.4):c.3310-5C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1793764G>T"	""	"VUS"	""
"0000547323"	"0"	"50"	"12"	"1906656"	"1906656"	"subst"	"3.52489E-5"	"01943"	"CACNA2D4_000045"	"g.1906656T>C"	""	""	""	"CACNA2D4(NM_172364.4):c.3041A>G (p.E1014G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1797490T>C"	""	"VUS"	""
"0000547324"	"0"	"50"	"12"	"1909616"	"1909619"	"del"	"0"	"02330"	"CACNA2D4_000046"	"g.1909616_1909619del"	""	""	""	"CACNA2D4(NM_172364.5):c.2869-12_2869-9delTCTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1800450_1800453del"	""	"VUS"	""
"0000547325"	"0"	"30"	"12"	"1919696"	"1919696"	"subst"	"0.00020819"	"02330"	"CACNA2D4_000047"	"g.1919696G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.2658+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1810530G>A"	""	"likely benign"	""
"0000547327"	"0"	"30"	"12"	"1920888"	"1920888"	"subst"	"0"	"02330"	"CACNA2D4_000048"	"g.1920888G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.2553C>T (p.A851=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1811722G>A"	""	"likely benign"	""
"0000547329"	"0"	"50"	"12"	"1949941"	"1949941"	"subst"	"6.09414E-5"	"01943"	"CACNA2D4_000050"	"g.1949941C>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2515G>T (p.A839S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1840775C>A"	""	"VUS"	""
"0000547331"	"0"	"30"	"12"	"1963173"	"1963173"	"subst"	"0.00053863"	"02330"	"CACNA2D4_000021"	"g.1963173C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.2190G>A (p.A730=), CACNA2D4(NM_172364.5):c.2190G>A (p.A730=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1854007C>T"	""	"likely benign"	""
"0000547332"	"0"	"10"	"12"	"1965221"	"1965221"	"subst"	"0.00168131"	"02330"	"CACNA2D4_000052"	"g.1965221C>G"	""	""	""	"CACNA2D4(NM_172364.5):c.2109G>C (p.E703D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1856055C>G"	""	"benign"	""
"0000547333"	"0"	"10"	"12"	"1969293"	"1969293"	"subst"	"0"	"02330"	"CACNA2D4_000053"	"g.1969293A>G"	""	""	""	"CACNA2D4(NM_172364.5):c.1940+18T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1860127A>G"	""	"benign"	""
"0000547334"	"0"	"90"	"12"	"1969369"	"1969369"	"subst"	"0.000802006"	"01943"	"CACNA2D4_000054"	"g.1969369G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.1882C>T (p.R628*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1860203G>A"	""	"pathogenic"	""
"0000547335"	"0"	"50"	"12"	"1984422"	"1984422"	"subst"	"4.06138E-6"	"01943"	"CACNA2D4_000055"	"g.1984422C>G"	""	""	""	"CACNA2D4(NM_172364.4):c.1801G>C (p.E601Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1875256C>G"	""	"VUS"	""
"0000547336"	"0"	"10"	"12"	"1989025"	"1989025"	"subst"	"0.00155349"	"02330"	"CACNA2D4_000029"	"g.1989025C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.1508G>A (p.S503N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1879859C>T"	""	"benign"	""
"0000547337"	"0"	"10"	"12"	"1992159"	"1992159"	"subst"	"0.0013094"	"01943"	"CACNA2D4_000056"	"g.1992159G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.1359C>T (p.Y453=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1882993G>A"	""	"benign"	""
"0000547338"	"0"	"10"	"12"	"1993967"	"1993967"	"subst"	"0.000211614"	"02330"	"CACNA2D4_000057"	"g.1993967C>A"	""	""	""	"CACNA2D4(NM_172364.5):c.1239G>T (p.P413=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1884801C>A"	""	"benign"	""
"0000547339"	"0"	"10"	"12"	"1995470"	"1995470"	"subst"	"0.00175856"	"02330"	"CACNA2D4_000058"	"g.1995470C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.912G>A (p.G304=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1886304C>T"	""	"benign"	""
"0000547340"	"0"	"30"	"12"	"1995494"	"1995494"	"subst"	"0.000593105"	"02330"	"CACNA2D4_000059"	"g.1995494C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.888G>A (p.V296=), CACNA2D4(NM_172364.5):c.888G>A (p.V296=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1886328C>T"	""	"likely benign"	""
"0000547341"	"0"	"30"	"12"	"2016639"	"2016639"	"subst"	"9.34511E-5"	"02330"	"CACNA2D4_000060"	"g.2016639C>G"	""	""	""	"CACNA2D4(NM_172364.5):c.748G>C (p.G250R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1907473C>G"	""	"likely benign"	""
"0000547342"	"0"	"30"	"12"	"2016692"	"2016692"	"subst"	"7.72892E-5"	"01943"	"CACNA2D4_000061"	"g.2016692G>T"	""	""	""	"CACNA2D4(NM_172364.4):c.695C>A (p.A232D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1907526G>T"	""	"likely benign"	""
"0000613987"	"0"	"30"	"12"	"1910809"	"1910809"	"subst"	"5.01118E-5"	"01943"	"CACNA2D4_000063"	"g.1910809G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2723C>T (p.T908M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1801643G>A"	""	"likely benign"	""
"0000613988"	"0"	"30"	"12"	"1989024"	"1989024"	"subst"	"0.000304867"	"02330"	"CACNA2D4_000065"	"g.1989024G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.1509C>T (p.S503=), CACNA2D4(NM_172364.5):c.1509C>T (p.S503=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1879858G>A"	""	"likely benign"	""
"0000613989"	"0"	"30"	"12"	"2024023"	"2024023"	"subst"	"4.0704E-6"	"02330"	"CACNA2D4_000067"	"g.2024023C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.306G>A (p.Q102=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1914857C>T"	""	"likely benign"	""
"0000613990"	"0"	"50"	"12"	"2027413"	"2027413"	"subst"	"1.76414E-5"	"01943"	"CACNA2D4_000068"	"g.2027413G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.227C>T (p.T76I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1918247G>A"	""	"VUS"	""
"0000622831"	"0"	"50"	"12"	"1963205"	"1963205"	"subst"	"2.07424E-5"	"01943"	"CACNA2D4_000064"	"g.1963205C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.2158G>A (p.E720K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1854039C>T"	""	"VUS"	""
"0000622832"	"0"	"50"	"12"	"1989031"	"1989031"	"subst"	"0"	"01943"	"CACNA2D4_000066"	"g.1989031G>C"	""	""	""	"CACNA2D4(NM_172364.4):c.1502C>G (p.A501G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1879865G>C"	""	"VUS"	""
"0000648509"	"1"	"10"	"12"	"1908849"	"1908849"	"subst"	"0.00500022"	"03575"	"CACNA2D4_000069"	"g.1908849A>G"	"2/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs55971855}"	"Germline"	""	"rs55971855"	"0"	""	""	"g.1799683A>G"	""	"benign"	""
"0000648510"	"1"	"30"	"12"	"1910786"	"1910786"	"subst"	"0.0225809"	"03575"	"CACNA2D4_000070"	"g.1910786C>T"	"71/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"71 heterozygous; {DB:CLININrs62621429}"	"Germline"	""	"rs62621429"	"0"	""	""	"g.1801620C>T"	""	"likely benign"	""
"0000648511"	"1"	"30"	"12"	"1965210"	"1965210"	"subst"	"0.00292421"	"03575"	"CACNA2D4_000022"	"g.1965210C>T"	"42/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"42 heterozygous, no homozygous; {DB:CLININrs76064926}"	"Germline"	""	"rs76064926"	"0"	""	""	"g.1856044C>T"	""	"likely benign"	""
"0000648512"	"1"	"50"	"12"	"1965235"	"1965235"	"subst"	"0.00166507"	"03575"	"CACNA2D4_000023"	"g.1965235G>A"	"18/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 18 heterozygous, no homozygous; {DB:CLININrs151121191}"	"Germline"	""	"rs151121191"	"0"	""	""	"g.1856069G>A"	""	"VUS"	""
"0000669159"	"3"	"30"	"12"	"1910786"	"1910786"	"subst"	"0.0225809"	"03575"	"CACNA2D4_000070"	"g.1910786C>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 homozygous; {DB:CLININrs62621429}"	"Germline"	""	"rs62621429"	"0"	""	""	"g.1801620C>T"	""	"likely benign"	""
"0000679448"	"0"	"30"	"12"	"2024071"	"2024071"	"subst"	"3.2491E-5"	"01943"	"CACNA2D4_000071"	"g.2024071C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.258G>A (p.G86=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000684784"	"0"	"30"	"12"	"1965210"	"1965210"	"subst"	"0.00292421"	"00004"	"CACNA2D4_000022"	"g.1965210C>T"	"frequency 0.017"	"{PMID:Le 2019:31180159}"	""	""	"classification based on frequency in 305 unrelated individuals"	"Germline"	""	""	"0"	""	""	"g.1856044C>T"	""	"likely benign"	""
"0000685070"	"0"	"90"	"12"	"1948716"	"1984577"	"del"	"0"	"00004"	"CACNA2D4_000072"	"g.1948716_1984577del"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685071"	"0"	"90"	"12"	"1948716"	"1984577"	"del"	"0"	"00004"	"CACNA2D4_000072"	"g.1948716_1984577del"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000691302"	"0"	"50"	"12"	"1906701"	"1906701"	"dup"	"0"	"02330"	"CACNA2D4_000073"	"g.1906701dup"	""	""	""	"CACNA2D4(NM_172364.5):c.2998dupC (p.H1000Pfs*50)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691303"	"0"	"50"	"12"	"1910287"	"1910287"	"subst"	"5.28228E-5"	"01943"	"CACNA2D4_000074"	"g.1910287G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2793-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691304"	"0"	"30"	"12"	"2022297"	"2022297"	"subst"	"0.000292455"	"01943"	"CACNA2D4_000075"	"g.2022297C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.318G>A (p.K106=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000712761"	"0"	"50"	"12"	"1949399"	"19800505"	"del"	"0"	"00006"	"CACNA2D4_000076"	"g.(?_1949399)_(19800505_?)del"	""	"{PMID:Gustafson 2017:28837078}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000713655"	"3"	"90"	"12"	"1969369"	"1969369"	"subst"	"0.000802006"	"00000"	"CACNA2D4_000054"	"g.1969369G>A"	""	"{PMID:Carss 2017:28041643}"	""	"12:1969369G>A ENST00000382722.5:c.1882C>T (Arg628Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000723955"	"0"	"50"	"12"	"1910207"	"1910207"	"dup"	"0"	"01943"	"CACNA2D4_000077"	"g.1910207dup"	""	""	""	"CACNA2D4(NM_172364.4):c.2868+2dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723956"	"0"	"30"	"12"	"1993455"	"1993455"	"subst"	"0"	"01943"	"CACNA2D4_000078"	"g.1993455T>G"	""	""	""	"CACNA2D4(NM_172364.4):c.1305A>C (p.E435D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723957"	"0"	"50"	"12"	"2024064"	"2024064"	"subst"	"0"	"01943"	"CACNA2D4_000079"	"g.2024064A>T"	""	""	""	"CACNA2D4(NM_172364.4):c.265T>A (p.Y89N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000759968"	"0"	"50"	"12"	"1993993"	"1993993"	"subst"	"0.000170697"	"00000"	"CACNA2D4_000081"	"g.1993993C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1884827C>T"	""	"VUS"	""
"0000759969"	"0"	"50"	"12"	"1940234"	"1940234"	"subst"	"0.000125985"	"00000"	"CACNA2D4_000080"	"g.1940234C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1831068C>T"	""	"VUS"	""
"0000764104"	"1"	"90"	"12"	"1969369"	"1969369"	"subst"	"0.000802006"	"04043"	"CACNA2D4_000054"	"g.1969369G>A"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1860203G>A"	""	"pathogenic (recessive)"	""
"0000764142"	"2"	"30"	"12"	"1965398"	"1965398"	"subst"	"0.000808411"	"04043"	"CACNA2D4_000024"	"g.1965398G>A"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1856232G>A"	""	"likely benign"	""
"0000787689"	"3"	"70"	"12"	"1965210"	"1965210"	"subst"	"0.00292421"	"00000"	"CACNA2D4_000022"	"g.1965210C>T"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1856044C>T"	""	"likely pathogenic"	""
"0000788067"	"3"	"50"	"12"	"1949897"	"1949897"	"subst"	"3.25185E-5"	"02404"	"CACNA2D4_000082"	"g.1949897G>A"	""	"{PMID:Bahena 2021:34148116}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000788388"	"0"	"50"	"12"	"1967743"	"1967743"	"subst"	"0.000117971"	"00000"	"CACNA2D4_000083"	"g.1967743C>T"	""	"{PMID:Katagiri 2014:25268133}"	""	"G2008A"	""	"Germline"	""	""	"0"	""	""	"g.1858577C>T"	""	"VUS"	""
"0000790283"	"0"	"50"	"12"	"1953632"	"1953632"	"subst"	"0.000400268"	"00000"	"CACNA2D4_000085"	"g.1953632G>T"	""	"{PMID:Zeitz-2009:19578023}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790284"	"0"	"50"	"12"	"1953586"	"1953586"	"subst"	"0"	"00000"	"CACNA2D4_000084"	"g.1953586G>A"	""	"{PMID:Zeitz-2009:19578023}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000797958"	"0"	"70"	"12"	"1965210"	"1965210"	"subst"	"0.00292421"	"00000"	"CACNA2D4_000022"	"g.1965210C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CACNA2D4 c.2120G>A, p.(Arg707His)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.1856044C>T"	""	"likely pathogenic"	"ACMG"
"0000805639"	"0"	"10"	"12"	"1909545"	"1909545"	"subst"	"0.000622415"	"02330"	"CACNA2D4_000086"	"g.1909545C>G"	""	""	""	"CACNA2D4(NM_172364.5):c.2921+7G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000805640"	"0"	"30"	"12"	"1940235"	"1940235"	"subst"	"8.1285E-6"	"01943"	"CACNA2D4_000087"	"g.1940235G>C"	""	""	""	"LRTM2(NM_001163925.1):c.202G>C (p.A68P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805641"	"0"	"30"	"12"	"1940619"	"1940619"	"subst"	"0.000113896"	"02325"	"CACNA2D4_000088"	"g.1940619G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.2551+9286C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805644"	"0"	"50"	"12"	"1965211"	"1965211"	"subst"	"0.000121838"	"02325"	"CACNA2D4_000089"	"g.1965211G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.2119C>T (p.R707C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805645"	"0"	"90"	"12"	"1988202"	"1988202"	"subst"	"8.14147E-6"	"01943"	"CACNA2D4_000090"	"g.1988202G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.1564C>T (p.R522*), CACNA2D4(NM_172364.5):c.1564C>T (p.R522*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000805646"	"0"	"50"	"12"	"1988975"	"1988975"	"subst"	"4.94618E-5"	"01943"	"CACNA2D4_000091"	"g.1988975C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.1558G>A (p.E520K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805647"	"0"	"30"	"12"	"1989024"	"1989024"	"subst"	"0.000304867"	"01943"	"CACNA2D4_000065"	"g.1989024G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.1509C>T (p.S503=), CACNA2D4(NM_172364.5):c.1509C>T (p.S503=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805648"	"0"	"30"	"12"	"1993988"	"1993988"	"subst"	"0.000357901"	"01943"	"CACNA2D4_000092"	"g.1993988G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.1218C>T (p.G406=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805649"	"0"	"30"	"12"	"1995494"	"1995494"	"subst"	"0.000593105"	"01943"	"CACNA2D4_000059"	"g.1995494C>T"	""	""	""	"CACNA2D4(NM_172364.4):c.888G>A (p.V296=), CACNA2D4(NM_172364.5):c.888G>A (p.V296=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805650"	"0"	"50"	"12"	"2016739"	"2016739"	"subst"	"4.10637E-6"	"02330"	"CACNA2D4_000093"	"g.2016739T>C"	""	""	""	"CACNA2D4(NM_172364.5):c.650-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000815413"	"0"	"50"	"12"	"1965374"	"1965374"	"subst"	"4.87417E-5"	"00000"	"CACNA2D4_000094"	"g.1965374G>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CACNA2D4:NM_172364 c.C2030G, p.P677R"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.1856208G>C"	""	"VUS"	"ACMG"
"0000816264"	"0"	"50"	"12"	"1969369"	"1969369"	"subst"	"0.000802006"	"00000"	"CACNA2D4_000054"	"g.1969369G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CACNA2D4 c.1882C>T, p.Arg628Ter"	"unsolved"	"Unknown"	"?"	""	"0"	""	""	"g.1860203G>A"	""	"VUS"	""
"0000816297"	"0"	"50"	"12"	"1953632"	"1953632"	"subst"	"0.000400268"	"00000"	"CACNA2D4_000085"	"g.1953632G>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CACNA2D4 c.2406C>A, p.Tyr802Ter"	"unsolved"	"Unknown"	"?"	""	"0"	""	""	"g.1844466G>T"	""	"VUS"	""
"0000819871"	"1"	"70"	"12"	"1988177"	"1988181"	"del"	"0"	"00000"	"CACNA2D4_000096"	"g.1988177_1988181del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CACNA2D4, variant 1: c.1589_1593del/p.V530Gfs*54, variant 2: c.1589_1593del/p.V530Gfs*54"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.1879011_1879015del"	""	"likely pathogenic"	""
"0000821187"	"3"	"70"	"12"	"1969369"	"1969369"	"subst"	"0.000802006"	"00000"	"CACNA2D4_000054"	"g.1969369G>A"	""	"{PMID:Turro 2020:32581362}"	""	"CACNA2D4 c.1882C>T, p.Arg628Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.1860203G>A"	""	"likely pathogenic"	""
"0000821469"	"3"	"70"	"12"	"1948911"	"1984652"	"del"	"0"	"00000"	"CACNA2D4_000095"	"g.1948911_1984652del"	""	"{PMID:Turro 2020:32581362}"	""	"chr12:g.1948911_1984652del"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000832237"	"21"	"70"	"12"	"1908867"	"1908867"	"subst"	"0"	"00000"	"CACNA2D4_000097"	"g.1908867C>T"	""	"{PMID:Dan 2020:32364220}"	""	"c.2975-6G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000845546"	"0"	"50"	"12"	"1987554"	"1987554"	"subst"	"0"	"00000"	"CACNA2D4_000098"	"g.1987554A>G"	"Novel"	"{PMID:Borràs 2013:23534816}"	""	"c.1646T>C"	""	"Germline"	"no"	""	"0"	""	""	""	""	"VUS"	""
"0000862923"	"0"	"30"	"12"	"1908868"	"1908868"	"subst"	"0"	"02330"	"CACNA2D4_000010"	"g.1908868G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.2975-7C>T, CACNA2D4(NM_172364.5):c.2975-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862924"	"0"	"30"	"12"	"1909159"	"1909159"	"subst"	"0"	"02330"	"CACNA2D4_000099"	"g.1909159C>T"	""	""	""	"CACNA2D4(NM_172364.5):c.2974+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862925"	"0"	"90"	"12"	"1953632"	"1953632"	"subst"	"0.000400268"	"01943"	"CACNA2D4_000085"	"g.1953632G>T"	""	""	""	"CACNA2D4(NM_172364.4):c.2406C>A (p.Y802*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000862926"	"0"	"10"	"12"	"1969296"	"1969296"	"subst"	"0.00087018"	"02330"	"CACNA2D4_000100"	"g.1969296G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.1940+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000862927"	"0"	"50"	"12"	"1995445"	"1995445"	"subst"	"2.03046E-5"	"01943"	"CACNA2D4_000101"	"g.1995445T>C"	""	""	""	"CACNA2D4(NM_172364.4):c.937A>G (p.T313A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862928"	"0"	"30"	"12"	"2016607"	"2016607"	"subst"	"2.03275E-5"	"01943"	"CACNA2D4_000102"	"g.2016607T>C"	""	""	""	"CACNA2D4(NM_172364.4):c.780A>G (p.P260=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862929"	"0"	"50"	"12"	"2017036"	"2017036"	"subst"	"3.25637E-5"	"01943"	"CACNA2D4_000103"	"g.2017036G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.649+5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862930"	"0"	"90"	"12"	"2022191"	"2022191"	"subst"	"1.22095E-5"	"01943"	"CACNA2D4_000104"	"g.2022191G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.424C>T (p.Q142*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000871947"	"0"	"70"	"12"	"1953632"	"1953632"	"subst"	"0.000400268"	"00000"	"CACNA2D4_000085"	"g.1953632G>T"	""	"{PMID:Wycisk 2006:17033974}"	""	"CACNA2D4 c.2406C->A, p.Y802X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.1844466G>T"	""	"likely pathogenic (recessive)"	""
"0000871948"	"0"	"70"	"12"	"1953632"	"1953632"	"subst"	"0.000400268"	"00000"	"CACNA2D4_000085"	"g.1953632G>T"	""	"{PMID:Wycisk 2006:17033974}"	""	"CACNA2D4 c.2406C->A, p.Y802X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.1844466G>T"	""	"likely pathogenic (recessive)"	""
"0000871949"	"3"	"70"	"12"	"1969369"	"1969369"	"subst"	"0.000802006"	"00000"	"CACNA2D4_000054"	"g.1969369G>A"	""	"{PMID:Ba-Abbad 2016:26560832}"	""	"CACNA2D4: c.[1882C>T];[1882C>T] (p.[Arg628*]; [Arg628*])"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.1860203G>A"	""	"likely pathogenic (recessive)"	""
"0000871950"	"3"	"70"	"12"	"1948716"	"1984577"	"delins"	"0"	"00000"	"CACNA2D4_000105"	"g.1948716_1984577delinsCA"	""	"{PMID:Ba-Abbad 2016:26560832}"	""	"CACNA2D4: c.[1719+2904_2551-27827delinsTG];[1719+2904_2551-27827delinsTG]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.1839550_1875411delinsCA"	""	"likely pathogenic (recessive)"	""
"0000871951"	"3"	"70"	"12"	"1948716"	"1984577"	"delins"	"0"	"00000"	"CACNA2D4_000105"	"g.1948716_1984577delinsCA"	""	"{PMID:Chiang 2018:28726569}"	""	"CACNA2D4: Chr12: 1948911-1984652, a deletion of 35,741 bp."	"homozygous; 19 carriers detected in the Ashkenazi Jews group: (1.8% population)"	"Unknown"	"?"	""	"0"	""	""	"g.1839550_1875411delinsCA"	""	"likely pathogenic (recessive)"	""
"0000890448"	"0"	"10"	"12"	"1963174"	"1963174"	"subst"	"0.00819699"	"02330"	"CACNA2D4_000106"	"g.1963174G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.2189C>T (p.A730V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000890449"	"0"	"30"	"12"	"1996180"	"1996180"	"subst"	"0.0015095"	"02330"	"CACNA2D4_000107"	"g.1996180G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.837C>T (p.R279=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913801"	"0"	"30"	"12"	"1953556"	"1953556"	"subst"	"2.86303E-5"	"02330"	"CACNA2D4_000108"	"g.1953556G>A"	""	""	""	"CACNA2D4(NM_172364.5):c.2470+12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913802"	"0"	"70"	"12"	"2019092"	"2019092"	"subst"	"0"	"02327"	"CACNA2D4_000109"	"g.2019092C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000925596"	"0"	"50"	"12"	"1988202"	"1988202"	"subst"	"8.14147E-6"	"02330"	"CACNA2D4_000090"	"g.1988202G>A"	""	""	""	"CACNA2D4(NM_172364.4):c.1564C>T (p.R522*), CACNA2D4(NM_172364.5):c.1564C>T (p.R522*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000966836"	"0"	"30"	"12"	"1963124"	"1963124"	"subst"	"0.00050159"	"02330"	"CACNA2D4_000110"	"g.1963124T>C"	""	""	""	"CACNA2D4(NM_172364.5):c.2239A>G (p.M747V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000986311"	"1"	"50"	"12"	"1969369"	"1969369"	"subst"	"0.000802006"	"04405"	"CACNA2D4_000054"	"g.1969369G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1860203G>A"	""	"VUS"	"ACMG"
"0000986312"	"3"	"90"	"12"	"1949904"	"1984504"	"del"	"0"	"04405"	"CACNA2D4_000112"	"g.(1920890_1949904)_ (1987480_1984504)del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000986313"	"3"	"50"	"12"	"2022211"	"2022211"	"subst"	"1.62522E-5"	"04405"	"CACNA2D4_000113"	"g.2022211C>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1913045C>G"	""	"VUS"	"ACMG"
"0000986873"	"2"	"90"	"12"	"1949904"	"1984504"	"del"	"0"	"04405"	"CACNA2D4_000112"	"g.(1920890_1949904)_ (1987480_1984504)del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000986980"	"0"	"70"	"12"	"1906588"	"1906588"	"subst"	"0"	"00006"	"CACNA2D4_000111"	"g.1906588G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"case unsolved"	"Germline"	""	""	"0"	""	""	"g.1797422G>A"	""	"likely pathogenic"	"ACMG"
"0000987046"	"0"	"70"	"12"	"2022191"	"2022191"	"subst"	"1.22095E-5"	"00006"	"CACNA2D4_000104"	"g.2022191G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"case unsolved"	"Germline"	""	""	"0"	""	""	"g.1913025G>A"	""	"likely pathogenic"	"ACMG"
"0000987170"	"0"	"90"	"12"	"1949904"	"1984504"	"del"	"0"	"00006"	"CACNA2D4_000112"	"g.(1920890_1949904)_ (1987480_1984504)del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"case unsolved"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000999876"	"0"	"70"	"12"	"1910208"	"1910208"	"subst"	"2.44131E-5"	"02327"	"CACNA2D4_000114"	"g.1910208C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000999877"	"0"	"30"	"12"	"1937242"	"1937242"	"subst"	"0"	"01804"	"CACNA2D4_000115"	"g.1937242G>A"	""	""	""	"LRTM2(NM_001163926.1):c.-73G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001020732"	"0"	"70"	"12"	"2027588"	"2027588"	"dup"	"0"	"00006"	"CACNA2D4_000116"	"g.2027588dup"	""	"{PMID:Szczałuba 2018:30238967}"	""	"52_53insA"	""	"Germline"	""	""	"0"	""	""	"g.1918422dup"	""	"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 CACNA2D4
## Count = 144
"{{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}}"
"0000059612"	"00004252"	"10"	"2793"	"-15"	"2793"	"-15"	"c.2793-15G>A"	"r.(spl?)"	"p.(?)"	"30i"
"0000059613"	"00004252"	"10"	"782"	"-19"	"782"	"-19"	"c.782-19C>T"	"r.(?)"	"p.(?)"	"6i"
"0000254823"	"00004252"	"30"	"1683"	"0"	"1683"	"0"	"c.1683T>C"	"r.(?)"	"p.(Asn561=)"	""
"0000256346"	"00004252"	"50"	"3315"	"0"	"3315"	"0"	"c.3315T>G"	"r.(?)"	"p.(Asn1105Lys)"	""
"0000264158"	"00004252"	"50"	"1006"	"0"	"1006"	"0"	"c.1006G>A"	"r.(?)"	"p.(Val336Ile)"	""
"0000264159"	"00004252"	"10"	"139"	"0"	"139"	"0"	"c.139G>A"	"r.(?)"	"p.(Val47Met)"	""
"0000264160"	"00004252"	"50"	"1547"	"0"	"1547"	"0"	"c.1547G>A"	"r.(?)"	"p.(Ser516Asn)"	""
"0000264161"	"00004252"	"10"	"2009"	"-3"	"2009"	"-3"	"c.2009-3C>T"	"r.spl?"	"p.?"	""
"0000264162"	"00004252"	"10"	"2095"	"0"	"2095"	"0"	"c.2095C>T"	"r.(?)"	"p.(Leu699Phe)"	""
"0000264163"	"00004252"	"10"	"2120"	"0"	"2120"	"0"	"c.2120G>A"	"r.(?)"	"p.(Arg707His)"	""
"0000264165"	"00004252"	"10"	"227"	"11"	"227"	"11"	"c.227+11C>T"	"r.(=)"	"p.(=)"	""
"0000264166"	"00004252"	"50"	"2516"	"0"	"2516"	"0"	"c.2516C>T"	"r.(?)"	"p.(Ala839Val)"	""
"0000264167"	"00004252"	"10"	"2604"	"0"	"2604"	"0"	"c.2604A>C"	"r.(?)"	"p.(Ala868=)"	""
"0000264168"	"00004252"	"10"	"2891"	"0"	"2891"	"0"	"c.2891C>T"	"r.(?)"	"p.(Ala964Val)"	""
"0000264169"	"00004252"	"50"	"2912"	"0"	"2912"	"0"	"c.2912A>G"	"r.(?)"	"p.(Glu971Gly)"	""
"0000264170"	"00004252"	"30"	"3034"	"0"	"3034"	"0"	"c.3034G>A"	"r.(?)"	"p.(Asp1012Asn)"	""
"0000264171"	"00004252"	"30"	"3356"	"0"	"3356"	"0"	"c.3356C>T"	"r.(?)"	"p.(Pro1119Leu)"	""
"0000264172"	"00004252"	"30"	"486"	"20"	"486"	"20"	"c.486+20C>G"	"r.(=)"	"p.(=)"	""
"0000264173"	"00004252"	"10"	"76"	"0"	"76"	"0"	"c.76G>A"	"r.(?)"	"p.(Ala26Thr)"	""
"0000264174"	"00004252"	"10"	"963"	"0"	"963"	"0"	"c.963G>A"	"r.(?)"	"p.(Leu321=)"	""
"0000266455"	"00004252"	"10"	"979"	"0"	"979"	"0"	"c.979A>G"	"r.(?)"	"p.(Ile327Val)"	""
"0000272522"	"00004252"	"30"	"1050"	"0"	"1050"	"0"	"c.1050G>A"	"r.(?)"	"p.(Ala350=)"	""
"0000272523"	"00004252"	"50"	"1356"	"0"	"1356"	"0"	"c.1356C>G"	"r.(?)"	"p.(Tyr452Ter)"	""
"0000272524"	"00004252"	"50"	"1423"	"0"	"1423"	"0"	"c.1423C>T"	"r.(?)"	"p.(Arg475Cys)"	""
"0000272525"	"00004252"	"30"	"1795"	"0"	"1795"	"0"	"c.1795C>G"	"r.(?)"	"p.(Gln599Glu)"	""
"0000272526"	"00004252"	"30"	"198"	"0"	"198"	"0"	"c.198G>A"	"r.(?)"	"p.(Ala66=)"	""
"0000272527"	"00004252"	"30"	"2095"	"0"	"2095"	"0"	"c.2095C>T"	"r.(?)"	"p.(Leu699Phe)"	""
"0000272528"	"00004252"	"30"	"2190"	"0"	"2190"	"0"	"c.2190G>A"	"r.(?)"	"p.(Ala730=)"	""
"0000272529"	"00004252"	"50"	"2516"	"0"	"2516"	"0"	"c.2516C>T"	"r.(?)"	"p.(Ala839Val)"	""
"0000272530"	"00004252"	"10"	"2588"	"0"	"2588"	"0"	"c.2588G>A"	"r.(?)"	"p.(Arg863His)"	""
"0000272531"	"00004252"	"10"	"2606"	"0"	"2606"	"0"	"c.2606C>T"	"r.(?)"	"p.(Thr869Met)"	""
"0000272532"	"00004252"	"30"	"2859"	"0"	"2859"	"0"	"c.2859C>T"	"r.(?)"	"p.(Pro953=)"	""
"0000272533"	"00004252"	"30"	"2891"	"0"	"2891"	"0"	"c.2891C>T"	"r.(?)"	"p.(Ala964Val)"	""
"0000272534"	"00004252"	"30"	"2975"	"-7"	"2975"	"-7"	"c.2975-7C>T"	"r.(=)"	"p.(=)"	""
"0000272535"	"00004252"	"50"	"3065"	"0"	"3065"	"0"	"c.3065C>T"	"r.(?)"	"p.(Pro1022Leu)"	""
"0000272536"	"00004252"	"50"	"3323"	"0"	"3323"	"0"	"c.3323A>C"	"r.(?)"	"p.(Asp1108Ala)"	""
"0000272537"	"00004252"	"30"	"3334"	"0"	"3334"	"0"	"c.3334G>A"	"r.(?)"	"p.(Ala1112Thr)"	""
"0000272538"	"00004252"	"30"	"3348"	"0"	"3348"	"0"	"c.3348A>T"	"r.(?)"	"p.(Ser1116=)"	""
"0000272539"	"00004252"	"30"	"3356"	"0"	"3356"	"0"	"c.3356C>T"	"r.(?)"	"p.(Pro1119Leu)"	""
"0000291226"	"00004252"	"50"	"2551"	"6050"	"2551"	"6050"	"c.2551+6050C>G"	"r.(=)"	"p.(=)"	""
"0000408347"	"00004252"	"70"	"2087"	"0"	"2087"	"0"	"c.2087A>G"	"r.(?)"	"p.(His696Arg)"	""
"0000408348"	"00004252"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>G"	"r.(?)"	"p.(Ile689Val)"	""
"0000547318"	"00004252"	"10"	"3354"	"0"	"3354"	"0"	"c.3354G>A"	"r.(?)"	"p.(Ser1118=)"	""
"0000547319"	"00004252"	"10"	"3348"	"0"	"3348"	"0"	"c.3348A>T"	"r.(?)"	"p.(Ser1116=)"	""
"0000547320"	"00004252"	"50"	"3323"	"0"	"3323"	"0"	"c.3323A>C"	"r.(?)"	"p.(Asp1108Ala)"	""
"0000547321"	"00004252"	"30"	"3310"	"-5"	"3310"	"-5"	"c.3310-5C>A"	"r.spl?"	"p.?"	""
"0000547322"	"00004252"	"50"	"3310"	"-5"	"3310"	"-5"	"c.3310-5C>A"	"r.spl?"	"p.?"	""
"0000547323"	"00004252"	"50"	"3041"	"0"	"3041"	"0"	"c.3041A>G"	"r.(?)"	"p.(Glu1014Gly)"	""
"0000547324"	"00004252"	"50"	"2869"	"-12"	"2869"	"-9"	"c.2869-12_2869-9del"	"r.(=)"	"p.(=)"	""
"0000547325"	"00004252"	"30"	"2658"	"13"	"2658"	"13"	"c.2658+13C>T"	"r.(=)"	"p.(=)"	""
"0000547327"	"00004252"	"30"	"2553"	"0"	"2553"	"0"	"c.2553C>T"	"r.(?)"	"p.(Ala851=)"	""
"0000547329"	"00004252"	"50"	"2515"	"0"	"2515"	"0"	"c.2515G>T"	"r.(?)"	"p.(Ala839Ser)"	""
"0000547331"	"00004252"	"30"	"2190"	"0"	"2190"	"0"	"c.2190G>A"	"r.(?)"	"p.(Ala730=)"	""
"0000547332"	"00004252"	"10"	"2109"	"0"	"2109"	"0"	"c.2109G>C"	"r.(?)"	"p.(Glu703Asp)"	""
"0000547333"	"00004252"	"10"	"1940"	"18"	"1940"	"18"	"c.1940+18T>C"	"r.(=)"	"p.(=)"	""
"0000547334"	"00004252"	"90"	"1882"	"0"	"1882"	"0"	"c.1882C>T"	"r.(?)"	"p.(Arg628Ter)"	""
"0000547335"	"00004252"	"50"	"1801"	"0"	"1801"	"0"	"c.1801G>C"	"r.(?)"	"p.(Glu601Gln)"	""
"0000547336"	"00004252"	"10"	"1508"	"0"	"1508"	"0"	"c.1508G>A"	"r.(?)"	"p.(Ser503Asn)"	""
"0000547337"	"00004252"	"10"	"1359"	"0"	"1359"	"0"	"c.1359C>T"	"r.(?)"	"p.(Tyr453=)"	""
"0000547338"	"00004252"	"10"	"1239"	"0"	"1239"	"0"	"c.1239G>T"	"r.(?)"	"p.(Pro413=)"	""
"0000547339"	"00004252"	"10"	"912"	"0"	"912"	"0"	"c.912G>A"	"r.(?)"	"p.(Gly304=)"	""
"0000547340"	"00004252"	"30"	"888"	"0"	"888"	"0"	"c.888G>A"	"r.(?)"	"p.(Val296=)"	""
"0000547341"	"00004252"	"30"	"748"	"0"	"748"	"0"	"c.748G>C"	"r.(?)"	"p.(Gly250Arg)"	""
"0000547342"	"00004252"	"30"	"695"	"0"	"695"	"0"	"c.695C>A"	"r.(?)"	"p.(Ala232Asp)"	""
"0000613987"	"00004252"	"30"	"2723"	"0"	"2723"	"0"	"c.2723C>T"	"r.(?)"	"p.(Thr908Met)"	""
"0000613988"	"00004252"	"30"	"1509"	"0"	"1509"	"0"	"c.1509C>T"	"r.(?)"	"p.(Ser503=)"	""
"0000613989"	"00004252"	"30"	"306"	"0"	"306"	"0"	"c.306G>A"	"r.(?)"	"p.(Gln102=)"	""
"0000613990"	"00004252"	"50"	"227"	"0"	"227"	"0"	"c.227C>T"	"r.(?)"	"p.(Thr76Ile)"	""
"0000622831"	"00004252"	"50"	"2158"	"0"	"2158"	"0"	"c.2158G>A"	"r.(?)"	"p.(Glu720Lys)"	""
"0000622832"	"00004252"	"50"	"1502"	"0"	"1502"	"0"	"c.1502C>G"	"r.(?)"	"p.(Ala501Gly)"	""
"0000648509"	"00004252"	"10"	"2987"	"0"	"2987"	"0"	"c.2987T>C"	"r.(?)"	"p.(Phe996Ser)"	""
"0000648510"	"00004252"	"30"	"2746"	"0"	"2746"	"0"	"c.2746G>A"	"r.(?)"	"p.(Asp916Asn)"	""
"0000648511"	"00004252"	"30"	"2120"	"0"	"2120"	"0"	"c.2120G>A"	"r.(?)"	"p.(Arg707His)"	""
"0000648512"	"00004252"	"50"	"2095"	"0"	"2095"	"0"	"c.2095C>T"	"r.(?)"	"p.(Leu699Phe)"	""
"0000669159"	"00004252"	"30"	"2746"	"0"	"2746"	"0"	"c.2746G>A"	"r.(?)"	"p.(Asp916Asn)"	""
"0000679448"	"00004252"	"30"	"258"	"0"	"258"	"0"	"c.258G>A"	"r.(?)"	"p.(Gly86=)"	""
"0000684784"	"00004252"	"30"	"2120"	"0"	"2120"	"0"	"c.2120G>A"	"r.(?)"	"p.(Arg707His)"	""
"0000685070"	"00004252"	"90"	"1720"	"-74"	"2551"	"1189"	"c.1720-74_2551+1189del"	"r.spl"	"p.(Tyr574Profs*6)"	""
"0000685071"	"00004252"	"90"	"1720"	"-74"	"2551"	"1189"	"c.1720-74_2551+1189del"	"r.spl"	"p.(Tyr574Profs*6)"	""
"0000691302"	"00004252"	"50"	"2998"	"0"	"2998"	"0"	"c.2998dup"	"r.(?)"	"p.(His1000ProfsTer50)"	""
"0000691303"	"00004252"	"50"	"2793"	"-3"	"2793"	"-3"	"c.2793-3C>T"	"r.spl?"	"p.?"	""
"0000691304"	"00004252"	"30"	"318"	"0"	"318"	"0"	"c.318G>A"	"r.(?)"	"p.(Lys106=)"	""
"0000712761"	"00004252"	"90"	"0"	"0"	"0"	"0"	"c.-231_2551+506_?){0}"	"r.0?"	"p.0?"	""
"0000713655"	"00004252"	"90"	"1882"	"0"	"1882"	"0"	"c.1882C>T"	"r.(?)"	"p.(Arg628*)"	""
"0000723955"	"00004252"	"50"	"2868"	"2"	"2868"	"2"	"c.2868+2dup"	"r.spl?"	"p.?"	""
"0000723956"	"00004252"	"30"	"1305"	"0"	"1305"	"0"	"c.1305A>C"	"r.(?)"	"p.(Glu435Asp)"	""
"0000723957"	"00004252"	"50"	"265"	"0"	"265"	"0"	"c.265T>A"	"r.(?)"	"p.(Tyr89Asn)"	""
"0000759968"	"00004252"	"50"	"1213"	"0"	"1213"	"0"	"c.1213G>A"	"r.(?)"	"p.(Asp405Asn)"	""
"0000759969"	"00004252"	"50"	"2551"	"9671"	"2551"	"9671"	"c.2551+9671G>A"	"r.spl"	"p.?"	""
"0000764104"	"00004252"	"90"	"1882"	"0"	"1882"	"0"	"c.1882C>T"	"r.1882c>u"	"p.(Arg628*)"	"19"
"0000764142"	"00004252"	"30"	"2009"	"-3"	"2009"	"-3"	"c.2009-3C>T"	"r.="	"p.(=)"	"20i"
"0000787689"	"00004252"	"70"	"2120"	"0"	"2120"	"0"	"c.2120G>A"	"r.(?)"	"p.(Arg707His)"	""
"0000788067"	"00004252"	"50"	"2551"	"8"	"2551"	"8"	"c.2551+8C>T"	"r.(=)"	"p.(=)"	"26i"
"0000788388"	"00004252"	"50"	"2008"	"0"	"2008"	"0"	"c.2008G>A"	"r.(?)"	"p.(Gly670Ser)"	"20"
"0000790283"	"00004252"	"50"	"2406"	"0"	"2406"	"0"	"c.2406C>A"	"r.(?)"	"p.(Tyr802*)"	"25"
"0000790284"	"00004252"	"50"	"2452"	"0"	"2452"	"0"	"c.2452C>T"	"r.(?)"	"p.(Arg818Cys)"	"25"
"0000797958"	"00004252"	"70"	"2120"	"0"	"2120"	"0"	"c.2120G>A"	"r.(?)"	"p.(Arg707His)"	""
"0000805639"	"00004252"	"10"	"2921"	"7"	"2921"	"7"	"c.2921+7G>C"	"r.(=)"	"p.(=)"	""
"0000805640"	"00004252"	"30"	"2551"	"9670"	"2551"	"9670"	"c.2551+9670C>G"	"r.(=)"	"p.(=)"	""
"0000805641"	"00004252"	"30"	"2551"	"9286"	"2551"	"9286"	"c.2551+9286C>T"	"r.(=)"	"p.(=)"	""
"0000805644"	"00004252"	"50"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Arg707Cys)"	""
"0000805645"	"00004252"	"90"	"1564"	"0"	"1564"	"0"	"c.1564C>T"	"r.(?)"	"p.(Arg522*)"	""
"0000805646"	"00004252"	"50"	"1558"	"0"	"1558"	"0"	"c.1558G>A"	"r.(?)"	"p.(Glu520Lys)"	""
"0000805647"	"00004252"	"30"	"1509"	"0"	"1509"	"0"	"c.1509C>T"	"r.(?)"	"p.(Ser503=)"	""
"0000805648"	"00004252"	"30"	"1218"	"0"	"1218"	"0"	"c.1218C>T"	"r.(?)"	"p.(Gly406=)"	""
"0000805649"	"00004252"	"30"	"888"	"0"	"888"	"0"	"c.888G>A"	"r.(?)"	"p.(Val296=)"	""
"0000805650"	"00004252"	"50"	"650"	"-2"	"650"	"-2"	"c.650-2A>G"	"r.spl?"	"p.?"	""
"0000815413"	"00004252"	"50"	"2030"	"0"	"2030"	"0"	"c.2030C>G"	"r.(?)"	"p.(Pro677Arg)"	""
"0000816264"	"00004252"	"50"	"1882"	"0"	"1882"	"0"	"c.1882C>T"	"r.(?)"	"p.(Arg628*)"	""
"0000816297"	"00004252"	"50"	"2406"	"0"	"2406"	"0"	"c.2406C>A"	"r.(?)"	"p.(Tyr802*)"	""
"0000819871"	"00004252"	"70"	"1589"	"0"	"1593"	"0"	"c.1589_1593del"	"r.(?)"	"p.(Val530Glyfs*54)"	""
"0000821187"	"00004252"	"70"	"1882"	"0"	"1882"	"0"	"c.1882C>T"	"r.(?)"	"p.(Arg628*)"	""
"0000821469"	"00004252"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""
"0000832237"	"00004252"	"70"	"2975"	"-6"	"2975"	"-6"	"c.2975-6G>A"	"r.(=)"	"p.(=)"	"33i"
"0000845546"	"00004252"	"50"	"1646"	"0"	"1646"	"0"	"c.1646T>C"	"r.(?)"	"p.(Leu549Pro)"	"16"
"0000862923"	"00004252"	"30"	"2975"	"-7"	"2975"	"-7"	"c.2975-7C>T"	"r.(=)"	"p.(=)"	""
"0000862924"	"00004252"	"30"	"2974"	"7"	"2974"	"7"	"c.2974+7G>A"	"r.(=)"	"p.(=)"	""
"0000862925"	"00004252"	"90"	"2406"	"0"	"2406"	"0"	"c.2406C>A"	"r.(?)"	"p.(Tyr802*)"	""
"0000862926"	"00004252"	"10"	"1940"	"15"	"1940"	"15"	"c.1940+15C>T"	"r.(=)"	"p.(=)"	""
"0000862927"	"00004252"	"50"	"937"	"0"	"937"	"0"	"c.937A>G"	"r.(?)"	"p.(Thr313Ala)"	""
"0000862928"	"00004252"	"30"	"780"	"0"	"780"	"0"	"c.780A>G"	"r.(?)"	"p.(Pro260=)"	""
"0000862929"	"00004252"	"50"	"649"	"5"	"649"	"5"	"c.649+5C>T"	"r.spl?"	"p.?"	""
"0000862930"	"00004252"	"90"	"424"	"0"	"424"	"0"	"c.424C>T"	"r.(?)"	"p.(Gln142*)"	""
"0000871947"	"00004252"	"70"	"2406"	"0"	"2406"	"0"	"c.2406C>A"	"r.(?)"	"p.(Tyr802*)"	"25"
"0000871948"	"00004252"	"70"	"2406"	"0"	"2406"	"0"	"c.2406C>A"	"r.(?)"	"p.(Tyr802*)"	"25"
"0000871949"	"00004252"	"70"	"1882"	"0"	"1882"	"0"	"c.1882C>T"	"r.(?)"	"p.(Arg628*)"	"19"
"0000871950"	"00004252"	"70"	"1720"	"-74"	"2551"	"1189"	"c.1720-74_2551+1189delinsTG"	"r.(?)"	"p.?"	"_16_26_"
"0000871951"	"00004252"	"70"	"1720"	"-74"	"2551"	"1189"	"c.1720-74_2551+1189delinsTG"	"r.(?)"	"p.?"	"_16_26_"
"0000890448"	"00004252"	"10"	"2189"	"0"	"2189"	"0"	"c.2189C>T"	"r.(?)"	"p.(Ala730Val)"	""
"0000890449"	"00004252"	"30"	"837"	"0"	"837"	"0"	"c.837C>T"	"r.(?)"	"p.(Arg279=)"	""
"0000913801"	"00004252"	"30"	"2470"	"12"	"2470"	"12"	"c.2470+12C>T"	"r.(=)"	"p.(=)"	""
"0000913802"	"00004252"	"70"	"466"	"0"	"466"	"0"	"c.466G>T"	"r.(?)"	"p.(Glu156*)"	""
"0000925596"	"00004252"	"50"	"1564"	"0"	"1564"	"0"	"c.1564C>T"	"r.(?)"	"p.(Arg522*)"	""
"0000966836"	"00004252"	"30"	"2239"	"0"	"2239"	"0"	"c.2239A>G"	"r.(?)"	"p.(Met747Val)"	""
"0000986311"	"00004252"	"50"	"1882"	"0"	"1882"	"0"	"c.1882C>T"	"r.(?)"	"p.(Arg628Ter)"	"19"
"0000986312"	"00004252"	"90"	"1720"	"-1"	"2551"	"1"	"c.(1719+1_1720-1)_(2551+1_2552-1)del"	"r.?"	"p.(?)"	"17i_26i"
"0000986313"	"00004252"	"50"	"404"	"0"	"404"	"0"	"c.404G>C"	"r.(?)"	"p.(Arg135Pro)"	"3"
"0000986873"	"00004252"	"90"	"1720"	"-1"	"2551"	"1"	"c.(1719+1_1720-1)_(2551+1_2552-1)del"	"r.?"	"p.(?)"	"17i_26i"
"0000986980"	"00004252"	"70"	"3109"	"0"	"3109"	"0"	"c.3109C>T"	"r.(?)"	"p.(Gln1037Ter)"	""
"0000987046"	"00004252"	"70"	"424"	"0"	"424"	"0"	"c.424C>T"	"r.(?)"	"p.(Gln142Ter)"	""
"0000987170"	"00004252"	"90"	"1720"	"-1"	"2551"	"1"	"c.(1719+1_1720-1)_(2551+1_2552-1)del"	"r.?"	"p.?"	""
"0000999876"	"00004252"	"70"	"2868"	"1"	"2868"	"1"	"c.2868+1G>A"	"r.spl?"	"p.?"	""
"0000999877"	"00004252"	"30"	"2551"	"12663"	"2551"	"12663"	"c.2551+12663C>T"	"r.(=)"	"p.(=)"	""
"0001020732"	"00004252"	"70"	"52"	"0"	"52"	"0"	"c.52dup"	"r.(52dup)"	"p.(Met18AsnfsTer65)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 45
"{{screeningid}}"	"{{variantid}}"
"0000033214"	"0000059612"
"0000033214"	"0000059613"
"0000184319"	"0000408347"
"0000184319"	"0000408348"
"0000291820"	"0000648509"
"0000291821"	"0000648510"
"0000291822"	"0000648511"
"0000291823"	"0000648512"
"0000305471"	"0000669159"
"0000309882"	"0000684784"
"0000310159"	"0000685070"
"0000310160"	"0000685071"
"0000328730"	"0000712761"
"0000329532"	"0000713655"
"0000360183"	"0000759968"
"0000360183"	"0000759969"
"0000363449"	"0000764104"
"0000363449"	"0000764142"
"0000363491"	"0000788067"
"0000376156"	"0000787689"
"0000376611"	"0000788388"
"0000377854"	"0000790283"
"0000377855"	"0000790284"
"0000383719"	"0000797958"
"0000387529"	"0000815413"
"0000388106"	"0000816264"
"0000388139"	"0000816297"
"0000390526"	"0000819871"
"0000391438"	"0000821187"
"0000391719"	"0000821469"
"0000399638"	"0000832237"
"0000408606"	"0000845546"
"0000414310"	"0000871947"
"0000414311"	"0000871948"
"0000414312"	"0000871949"
"0000414313"	"0000871950"
"0000414314"	"0000871951"
"0000452328"	"0000986311"
"0000452328"	"0000986873"
"0000452329"	"0000986312"
"0000452330"	"0000986313"
"0000452635"	"0000986980"
"0000452701"	"0000987046"
"0000452825"	"0000987170"
"0000461165"	"0001020732"