### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CACNA1F) # 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}}" "CACNA1F" "calcium channel, voltage-dependent, L type, alpha 1F subunit" "X" "p11.23" "unknown" "NG_009095.2" "UD_132118823866" "" "https://www.LOVD.nl/CACNA1F" "" "1" "1393" "778" "300110" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
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" "http://databases.lovd.nl/shared/refseq/CACNA1F_NM_005183.2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2019-07-12 18:38:42" "00000" "2025-11-01 13:22:20" ## 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}}" "00000427" "CACNA1F" "calcium channel, voltage-dependent, L type, alpha 1F subunit" "002" "NM_005183.2" "" "NP_005174.2" "" "" "" "-62" "6008" "5934" "49061523" "49089833" "00000" "2012-09-13 12:14:10" "" "" "00025624" "CACNA1F" "transcript variant 2" "001" "NM_001256789.1" "" "NP_001243718.1" "" "" "" "-62" "5975" "5901" "49089833" "49061523" "00008" "2021-06-24 08:54:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02140" "CSNB2A" "blindness, night, stationary, congenital, type 2A (CSNB-2A)" "XL" "300071" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02158" "CORDX3" "dystrophy, cone-rod, X-linked, type 3 (CORDX-3)" "XLR" "300476" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02168" "AIED" "Aland Island eye disease (AIED)" "XL" "300600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03329" "CSNBO2" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" "613411" "" "" "" "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" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CACNA1F" "02140" "CACNA1F" "02158" "CACNA1F" "02168" ## Individuals ## Do not remove or alter this header ## ## Count = 647 "{{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" "" "" "" "" "00032854" "" "" "" "1" "" "00006" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00032855" "" "" "" "55" "" "00006" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00032856" "" "" "" "1" "" "00006" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00032857" "" "" "" "1" "" "00006" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00032858" "" "" "" "53" "" "00006" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00032859" "" "" "" "1" "" "00006" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00032860" "" "" "" "5" "" "00006" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00032861" "" "" "" "1" "" "00006" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "0" "" "" "" "" "00033105" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033107" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033109" "" "" "" "1" "" "00229" "{PMID:Neveling 2012:22334370}" "" "F" "no" "" "" "0" "" "" "" "" "00033113" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033116" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033118" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033135" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033136" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033142" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00039402" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00088177" "" "" "" "5" "" "01823" "{PMID:Thomas 2017:28378818}, {DOI:Thomas 2017:10.1038/ejhg.2017.44}" "2-generation family, 5 affected (5M), unaffected heterozygous carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "NYS-002" "00088180" "" "" "" "1" "" "01823" "{PMID:Thomas 2017:28378818}, {DOI:Thomas 2017:10.1038/ejhg.2017.44}" "2-generation family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "NYS-004" "00246569" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "3-generation family, 1 affected (M), unaffected carrier females" "M" "" "" "" "0" "" "" "" "FamA" "00246570" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "2-generation family, 1 affected (M), unaffected carrier female" "M" "" "" "" "0" "" "" "" "FamB" "00246571" "" "" "" "2" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "3-generation family, 2 affected (2M), unaffected carrier female" "M" "" "" "" "0" "" "" "" "FamC" "00246572" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "2-generation family, 1 affected (M)" "M" "" "" "" "0" "" "" "" "FamD" "00246573" "" "" "" "2" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "2-generation family, 2 affected brothers" "M" "" "" "" "0" "" "" "" "FamE" "00246574" "" "" "" "1" "" "00228" "{PMID:Menke 2016:27311832}" "2-generation family, 1 affected (M)" "M" "" "" "" "0" "" "" "" "FamF" "00246575" "" "" "" "1" "" "00228" "{PMID:Menke 2016:27311832}" "2-generation family, 1 affected (M)" "M" "" "" "" "0" "" "" "" "FamG" "00295071" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308488" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308489" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308490" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308665" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" "" "00309001" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309002" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309003" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309004" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309005" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309006" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309007" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309008" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309009" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309010" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309011" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309012" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309013" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00319837" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319838" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319839" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00324341" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00326671" "" "" "" "1" "" "00008" "{PMID:Zeitz 2005:15761389}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00326672" "" "" "" "1" "" "00008" "{PMID:Zeitz 2005:15761389}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00326673" "" "" "" "1" "" "00008" "{PMID:Zeitz 2005:15761389}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00326674" "" "" "" "1" "" "00008" "{PMID:Zeitz 2005:15761389}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00326675" "" "" "" "1" "" "00008" "{PMID:Zeitz 2005:15761389}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00327695" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327696" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Israel" "" "0" "" "" "" "" "00327697" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327698" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327699" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327700" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327701" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327702" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327703" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Belgium" "" "0" "" "" "" "" "00327704" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327705" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327706" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327707" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327708" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327709" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327710" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327711" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327712" "" "" "" "1" "" "00228" "{PMID:Zhou 2018:29453956}" "" "M" "" "China" "" "0" "" "" "" "690322" "00327713" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327714" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327715" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327716" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327717" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327718" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Belgium" "" "0" "" "" "" "" "00327719" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00327720" "" "" "" "1" "" "00228" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "G001426" "00327721" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327722" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327723" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Belgium" "" "0" "" "" "" "" "00327724" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327725" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germany" "" "0" "" "" "" "" "00327726" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00327727" "" "" "" "1" "" "00228" "{PMID:Taylor 2017:28341476}" "family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "13013040" "00327728" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Belgium" "" "0" "" "" "" "" "00327729" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327730" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327731" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327732" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327733" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "France" "" "0" "" "" "" "" "00327734" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327735" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327736" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327737" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327738" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germany" "" "0" "" "" "" "" "00327739" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327740" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327741" "" "" "" "1" "" "00228" "{PMID:Zeitz 2015:25307992}" "" "" "" "" "" "0" "" "" "" "" "00327742" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "France" "" "0" "" "" "" "" "00327743" "" "" "" "1" "" "00228" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 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"" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam304" "00327890" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam301" "00327891" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam307" "00327892" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam164" "00327893" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam306" "00327894" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam77" "00327895" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam315" "00327896" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam314" "00327897" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam308" "00327898" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam313" "00327899" "" "" "" "1" "" "00000" "{PMID:Hove 2016:28002560}" "" "" "" "Denmark" "" "0" "" "" "" "Fam253" "00327982" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001013" "00328024" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001295" "00328026" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001300" "00328051" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001423" "00328066" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G004711" "00328069" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G004715" "00328240" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G008166" "00328254" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G009003" "00328274" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000138" "00328282" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000150" "00328314" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000203" "00328330" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000337" "00328381" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "M" "" "China" "" "0" "" "" "" "690921" "00328382" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "M" "" "China" "" "0" "" "" "" "690945" "00328383" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "M" "" "China" "" "0" "" "" "" "690996" "00328457" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "65872" "00328458" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14002269" "00328467" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15023685" "00328468" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15015163" "00328469" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14017012" "00328470" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15000024" "00328471" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16004897" "00328472" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14013624" "00332407" "" "" "" "1" "" "00000" "{PMID:Rim 2017:29145603}" "" "M" "" "Korea" "" "0" "" "" "" "Pat28" "00333360" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat14" "00333392" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD20–05" "00333394" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD12–02" "00333484" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "SRF_1037" "00333640" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "474" "00333643" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "487" "00333644" "" "" "" "3" "" "00000" "{PMID:Stone 2017:28559085}" "family, 3 affected" "M" "" "(United States)" "" "0" "" "" "" "488" "00333645" "" "" "" "5" "" "00000" "{PMID:Stone 2017:28559085}" "family, 5 affected" "M" "" "(United States)" "" "0" "" "" "" "489" "00334451" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-043" "00334965" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "" "" "China" "" "0" "" "" "" "H29" "00335092" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "700" "00335591" "" "" "" "1" "" "00008" "{PMID:Zeitz 2005:15761389}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00335960" "" "" "" "11" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00335961" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358957" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71918" "00362152" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT41" "00362153" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT849" "00362154" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1100" "00362157" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1155" "00363354" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM565" "00363355" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM865" "00363360" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM704" "00363376" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM623" "00363377" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM698" "00363378" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM308" "00363379" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM776" "00363739" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG1130" "00372522" "" "" "" "1" "" "00006" "{PMID:Xu 2015:25999675}" "2-generation family, 1 affected, unaffected parents" "M" "" "China" "" "0" "" "" "" "RP401" "00372523" "" "" "" "1" "" "00006" "{PMID:Xu 2015:25999675}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "China" "" "0" "" "" "" "RP403" "00372632" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP311" "00373847" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp232A" "00374959" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W154-1" "00374963" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W96-1" "00375421" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#013" "00375430" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#024" "00376240" "" "" "" "1" "" "00000" "{PMID:Jacobson 2008:18463160}" "" "M" "" "" "" "0" "" "" "" "" "00376550" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "affected brother and grandfather hemi, mother het" "" "" "Germany" "" "0" "" "" "" "" "00376572" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376573" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376574" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376575" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "mother het" "" "" "Germany" "" "0" "" "" "" "" "00376576" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376577" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376578" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376579" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376580" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376581" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376582" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "mother het" "" "" "Germany" "" "0" "" "" "" "" "00376583" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "France" "" "0" "" "" "" "" "00376584" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376585" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376586" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376587" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "SNP or modifier" "" "" "" "" "0" "" "" "" "" "00376588" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "SNP or modifier" "" "" "" "" "0" "" "" "" "" "00376589" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376590" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376591" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376592" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00376593" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "SNP or modifier" "" "" "Germany" "" "0" "" "" "" "" "00376594" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376595" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376596" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376597" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376598" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "SNP or modifier" "" "" "Switzerland" "" "0" "" "" "" "" "00376599" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "SNP or modifier" "M" "" "Belgium" "" "0" "" "" "" "" "00376600" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376601" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376602" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376603" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Switzerland" "" "0" "" "" "" "" "00376604" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "mother het" "" "" "Germany" "" "0" "" "" "" "" "00376605" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376606" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "yes" "Netherlands" "" "0" "" "" "" "" "00376607" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "showed index het, mother homo wt, father hemi but not affected, sister unaffected also het / SNP or modifer" "F" "" "Germany" "" "0" "" "" "" "" "00376608" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376609" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "M" "" "France" "" "0" "" "" "" "" "00376610" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376611" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376612" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376613" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376614" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "mother het, unaffected sister wt" "" "" "Germany" "" "0" "" "" "" "" "00376615" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "affected brother and grandfather hemi mother het" "" "" "Germany" "" "0" "" "" "" "" "00376616" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376617" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376618" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376619" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00376620" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "M" "" "France" "" "0" "" "" "" "" "00376621" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376622" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376623" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376624" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376625" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376626" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376627" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376628" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376629" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376630" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376631" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376632" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376633" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376634" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376635" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376636" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376657" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "mother het" "" "" "Germany" "" "0" "" "" "" "" "00376658" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376998" "" "" "" "1" "" "00000" "{PMID:Simonsz-2009:20001510}" "half brother of 1b" "M" "" "Netherlands" "" "0" "" "" "" "" "00376999" "" "" "" "1" "" "00000" "{PMID:Simonsz-2009:20001510}" "half brother of 1a" "M" "" "Netherlands" "" "0" "" "" "" "" "00377000" "" "" "" "1" "" "00000" "{PMID:Simonsz-2009:20001510}" "half brother of 2b" "M" "" "Netherlands" "" "0" "" "" "" "" "00377001" "" "" "" "1" "" "00000" "{PMID:Simonsz-2009:20001510}" "half brother of 2a" "M" "" "Netherlands" "" "0" "" "" "" "" "00377003" "" "" "" "1" "" "00000" "{PMID:Simonsz-2009:20001510}" "cousin of 4b" "M" "" "Netherlands" "" "0" "" "" "" "" "00377004" "" "" "" "1" "" "00000" "{PMID:Simonsz-2009:20001510}" "(Wutz et al., 2002, case S41)" "M" "" "Netherlands" "" "0" "" "" "" "" "00377005" "" "" "" "1" "" "00000" "{PMID:Simonsz-2009:20001510}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00377006" "" "" "" "1" "" "00000" "{PMID:Simonsz-2009:20001510}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00377202" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "282" "00377952" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "" "" "" "" "" "0" "" "" "" "" "00379485" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "M" "" "China" "" "0" "" "" "" "" "00379486" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "M" "" "China" "" "0" "" "" "" "" "00379487" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "M" "" "China" "" "0" "" "" "" "" "00379488" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "M" "" "China" "" "0" "" "" "" "" "00379598" "" "" "" "1" "" "00000" "{PMID:Wang-2012:22735794}" "" "M" "" "China" "" "0" "" "" "" "" "00379751" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0095" "00381268" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381269" "" "" "" "3" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381270" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381271" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381272" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381273" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381274" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381275" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381276" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381277" "" "" "" "11" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381278" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381279" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381280" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381281" "" "" "" "3" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381282" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381283" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381284" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381285" "" "" "" "9" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381286" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381287" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381288" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381289" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381290" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381291" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381292" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381293" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381953" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "M" "" "Germany" "" "0" "" "" "" "22" "00382138" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "269" "00382140" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "274" "00382240" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "69" "00382241" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "70" "00382242" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "71" "00382243" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "72" "00382244" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "73" "00382502" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "364" "00382503" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "365" "00382504" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "366" "00382537" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "399" "00382800" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "M" "" "" "" "0" "" "" "" "" "00383511" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?" "00384292" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13495" "00384463" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14715" "00384497" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14925" "00384634" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "M" "no" "Israel" "" "0" "" "" "" "Family 12 patient 1" "00385020" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19314" "00385878" "" "" "" "1" "" "00000" "{PMID:Birtel 2020:32013026}" "mother of V:1 and V:2" "F" "" "(Germany)" "" "0" "" "" "white" "IV.4" "00385879" "" "" "" "1" "" "00000" "{PMID:Birtel 2020:32013026}" "son of IV:3 and IV:4" "M" "" "(Germany)" "" "0" "" "" "white" "V.1" "00386203" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-158, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-323" "00386229" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-187, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-410" "00386277" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-68, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-173" "00386281" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-191" "00386687" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI029_000070" "00386724" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2859_004444" "00387640" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "28" "00389028" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 104, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "312" "00389029" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 104, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "313" "00389069" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 119, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "353" "00389105" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 129, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "389" "00389106" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 129, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "390" "00389127" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 133, congenital stationary night blindness, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "411" "00389128" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 133, congenital stationary night blindness, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "412" "00389129" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 133, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "413" "00389134" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 135, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "418" "00390184" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001013" "00390185" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001295" "00390186" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001300" "00390187" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001423" "00390188" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001426" "00390189" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004711" "00390190" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004715" "00390191" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G008166" "00390192" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009003" "00390193" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000138" "00390194" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000150" "00390195" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000203" "00390196" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000337" "00391144" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "106" "00391531" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "28" "00391532" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "29" "00391533" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "Maori" "30" "00391534" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "31" "00391535" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "Indian" "32" "00391536" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "33" "00392608" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "70" "00392641" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "122" "00393836" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00394366" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "XLCSNB1" "00394367" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "XLCSNB2" "00394368" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "XLCSNB3" "00395882" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F122" "00396502" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00401195" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "M" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat29" "00403237" "" "" "" "1" "" "00000" "{PMID:Jalkanen-2007:17525176}" "novel mutation" "M" "" "" "" "0" "" "" "" "" "00403238" "" "" "" "1" "" "00000" "{PMID:Jalkanen-2006:16505158}" "novel mutation" "M" "" "Finland" "" "0" "" "" "Finnish" "" "00403239" "" "" "" "1" "" "00000" "{PMID:Vincent-2011:22194652}" "novel mutation, proband" "M" "" "" "" "0" "" "" "Caucasian" "" "00403240" "" "" "" "1" "" "00000" "{PMID:Vincent-2011:22194652}" "novel mutation, maternal grandfather" "M" "" "" "" "0" "" "" "Caucasian" "" "00403241" "" "" "" "1" "" "00000" "{PMID:Vincent-2011:22194652}" "unaffected obligate carrier" "F" "" "" "" "0" "" "" "Caucasian" "" "00403242" "" "" "" "1" "" "00000" "{PMID:Vincent-2012:22744390}" "" "M" "" "" "" "0" "" "" "" "" "00403243" "" "" "" "1" "" "00000" "{PMID:Jacobi-2003:12719097}" "novel mutation" "" "" "France" "" "0" "" "" "French" "" "00403244" "" "" "" "8" "" "00000" "{PMID:Hemara-Wahanui-2005:15897456}" "" "M" "" "New Zealand" "" "0" "" "" "" "" "00403245" "" "" "" "1" "" "00000" "{PMID:Hauke-2013:24124559}" "" "" "" "Germany" "" "0" "" "" "German" "" "00403246" "" "" "" "1" "" "00000" "{PMID:Hauke-2013:24124559}" "" "" "" "Germany" "" "0" "" "" "German" "" "00403247" "" "" "" "1" "" "00000" "{PMID:Hauke-2013:24124559}" "" "" "" "Germany" "" "0" "" "" "German" "" "00403248" "" "" "" "1" "" "00000" "{PMID:Hauke-2013:24124559}" "" "" "" "Germany" "" "0" "" "" "German" "" "00403249" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403250" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403251" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403252" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403253" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403254" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403255" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403256" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403257" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403258" "" "" "" "1" "" "00000" "{PMID:Strom-1998:09662399}" "" "" "" "(Germany)" "" "0" "" "" "" "" "00403259" "" "" "" "1" "" "00000" "{PMID:Zhou-2015:26075273}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00403260" "" "" "" "1" "" "00000" "{PMID:Men-2017:29062221}" "" "M" "" "(United States)" "" "0" "" "" "" "Patient 1" "00403261" "" "" "" "1" "" "00000" "{PMID:Men-2017:29062221}" "" "M" "no" "(United States)" "" "0" "" "" "" "Patient 2" "00403262" "" "" "" "1" "" "00000" "{PMID:Preising-2018:30186847}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00403263" "" "" "" "1" "" "00000" "{PMID:Preising-2018:30186847}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00403264" "" "" "" "1" "" "00000" "{PMID:Kimchi-2019:31651202}" "" "M" "" "Belarus" "" "0" "" "" "Ashkenazi Jewish" "" "00403265" "" "" "" "1" "" "00000" "{PMID:Kimchi-2019:31651202}" "" "F" "" "Ukraine" "" "0" "" "" "Ashkenazi Jewish" "" "00403266" "" "" "" "1" "" "00000" "{PMID:Kimchi-2019:31651202}" "" "F" "" "Ukraine" "" "0" "" "" "Ashkenazi Jewish" "" "00403267" "" "" "" "1" "" "00000" "{PMID:Kimchi-2019:31651202}" "" "F" "" "Ukraine" "" "0" "" "" "Ashkenazi Jewish" "" "00403268" "" "" "" "1" "" "00000" "{PMID:Kimchi-2019:31651202}" "" "F" "" "Ukraine" "" "0" "" "" "Ashkenazi Jewish" "" "00403269" "" "" "" "1" "" "00000" "{PMID:Kimchi-2019:31651202}" "" "M" "" "Russia" "" "0" "" "" "Ashkenazi Jewish" "" "00403270" "" "" "" "1" "" "00000" "{PMID:Kimchi-2019:31651202}" "" "F" "" "Russia" "" "0" "" "" "Ashkenazi Jewish" "" "00403271" "" "" "" "1" "" "00000" "{PMID:Kimchi-2019:31651202}" "" "M" "" "Russia" "" "0" "" "" "Ashkenazi Jewish" "" "00403272" "" "" "" "1" "" "00000" "{PMID:Kimchi-2019:31651202}" "" "F" "" "Russia" "" "0" "" "" "Ashkenazi Jewish" "" "00403273" "" "" "" "1" "" "00000" "{PMID:Bech-Hansen-1998:09662400}" "" "" "" "" "" "0" "" "" "Mennonite" "" "00403274" "" "" "" "1" "" "00000" "{PMID:Bech-Hansen-1998:09662400}" "" "" "" "" "" "0" "" "" "" "" "00403275" "" "" "" "10" "" "00000" "{PMID:Bech-Hansen-1998:09662400}" "" "M" "" "" "" "0" "" "" "Mennonite" "" "00403276" "" "" "" "1" "" "00000" "{PMID:Bech-Hansen-1998:09662400}" "" "" "" "" "" "0" "" "" "Mennonite" "" "00403277" "" "" "" "1" "" "00000" "{PMID:Bech-Hansen-1998:09662400}" "" "" "" "" "" "0" "" "" "" "" "00403278" "" "" "" "1" "" "00000" "{PMID:Bech-Hansen-1998:09662400}" "" "" "" "" "" "0" "" "" "" "" "00403279" "" "" "" "1" "" "00000" "{PMID:Michalakis-2014:24163243}" "" "" "" "" "" "0" "" "" "" "" "00403280" "" "" "" "1" "" "00000" "{PMID:Michalakis-2014:24163243}" "" "" "" "" "" "0" "" "" "" "" "00403281" "" "" "" "1" "" "00000" "{PMID:Michalakis-2014:24163243}" "" "" "" "" "" "0" "" "" "" "" "00403282" "" "" "" "1" "" "00000" "{PMID:Michalakis-2014:24163243}" "" "" "" "" "" "0" "" "" "" "" "00403283" "" "" "" "1" "" "00000" "{PMID:Michalakis-2014:24163243}" "" "" "" "" "" "0" "" "" "" "" "00404130" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "710-OR" "00404131" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "670-AB" "00404132" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "Japan" "" "0" "" "" "" "M10/SK-JP" "00404133" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "Japan" "" "0" "" "" "" "HM-JP" "00404134" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "8002-NS" "00404135" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "600-OR" "00404136" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "720-OR" "00404137" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "8004-NS" "00404138" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "Japan" "" "0" "" "" "" "TK-JP" "00404139" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "513-NL" "00404140" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "230-MN" "00404141" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "730-OR" "00404142" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "760-OR" "00404143" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "8003-NS" "00404144" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "510-NL" "00404145" "" "" "" "1" "" "00000" "{PMID:Boycott 2001:11281458}" "" "" "" "" "" "0" "" "" "" "8001-NS" "00404146" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "A-III:5" "00404147" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "A-IV:6" "00404148" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "A-IV:7" "00404149" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "A-III:5" "00404150" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "A-IV:6" "00404151" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "A-IV:7" "00404152" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "B-III:3" "00404153" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "B-III:3" "00404154" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "C-III:1" "00404155" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "C-III:1" "00404156" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "D-III:4" "00404157" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "E-III:1" "00404158" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "E-III:1" "00404159" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "A-III:5" "00404160" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "A-IV:6" "00404161" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "A-IV:7" "00404162" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "B-III:3" "00404163" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "C-III:1" "00404164" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "D-III:4" "00404165" "" "" "" "1" "" "00000" "{PMID:Nakamura 2001:11381068}" "" "M" "" "" "" "0" "" "" "" "E-III:1" "00404166" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "F40" "00404167" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "S41" "00404168" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R3" "00404169" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R4" "00404170" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T15" "00404171" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T22" "00404172" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T7" "00404173" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T2" "00404174" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "B27" "00404175" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T24" "00404176" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R6" "00404177" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T10" "00404178" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T26" "00404179" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T17" "00404180" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R26" "00404181" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T13" "00404182" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R5" "00404183" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R25" "00404184" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T12" "00404185" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "T6" "00404186" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "H15" "00404187" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R11" "00404188" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R29" "00404189" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R7" "00404190" "" "" "" "1" "" "00000" "{PMID:Wutz 2002:12111638}" "" "" "" "" "" "0" "" "" "" "R23" "00404191" "" "" "" "4" "" "00000" "{PMID:Wutz 2002:12111638}, {PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "T9;Pat15" "00411362" "" "" "" "1" "" "01164" "" "" "M" "-" "Germany" "" "0" "" "" "" "198891" "00417829" "" "" "" "1" "" "04385" "{PMID:Mihalich 2022:35697328}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "Italy" "" "0" "" "" "" "Fam1PatII1" "00418991" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2022:36150389}" "" "M" "" "Netherlands" "" "0" "" "" "" "RU02135" "00419693" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070227" "00420464" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F122" "00426918" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 24, individual 27" "M" "" "" "" "0" "" "" "" "24_27" "00444228" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}, {PMID:Moon 2021:35052368}" "" "M" "" "Korea" "" "0" "" "" "" "Pat6;Pat4" "00444229" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat7" "00444230" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}, {PMID:Moon 2021:35052368}" "" "M" "" "Korea" "" "0" "" "" "" "Pat8;Pat5" "00444231" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}, {PMID:Moon 2021:35052368}" "" "M" "" "Korea" "" "0" "" "" "" "Pat9;Pat6" "00444232" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat10" "00444233" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat11" "00444234" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat12" "00444235" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat13" "00444236" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat14" "00444237" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat16" "00444238" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat17" "00444239" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat18" "00444240" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat19" "00444252" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat7" "00444253" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat8" "00446965" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-125" "00447127" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "CSNB-111" "00447128" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CSNB-131" "00447133" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CSNB-147" "00447134" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "CSNB-150" "00447399" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "STGD-465" "00447525" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "CD-618" "00447542" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "CRD-836" "00447548" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CSNB-138" "00447551" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CSNB-148" "00447552" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "CSNB-151" "00447620" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "SRP-1273" "00447727" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "UD-108" "00450724" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071002" "00450725" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072158" "00450726" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072847" "00450727" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073206" "00450728" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "075140" "00450729" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "079822" "00450856" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072199" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 648 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00032854" "00187" "00032855" "00187" "00032856" "00187" "00032857" "00187" "00032858" "00187" "00032859" "00187" "00032860" "00187" "00032861" "00187" "00033105" "04214" "00033107" "04214" "00033109" "04214" "00033113" "04214" "00033116" "04214" "00033118" "04214" "00033135" "04214" "00033136" "04214" "00033142" "04214" "00039402" "00139" "00039402" "04282" "00088177" "05130" "00088180" "05130" "00246569" "05130" "00246570" "05130" "00246571" "05130" "00246572" "05130" "00246573" "05130" "00246574" "05130" "00246575" "05130" "00295071" "00198" "00308488" "04214" "00308489" "04214" "00308490" "04214" "00308665" "04214" "00309001" "04214" "00309002" "04214" "00309003" "04214" "00309004" "04214" "00309005" "04214" "00309006" "04214" "00309007" "04214" 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"04214" "00327733" "04214" "00327734" "04214" "00327735" "04214" "00327736" "04214" "00327737" "04214" "00327738" "04214" "00327739" "04214" "00327740" "04214" "00327741" "04214" "00327742" "04214" "00327743" "04214" "00327744" "04214" "00327745" "04214" "00327746" "04214" "00327747" "04214" "00327748" "04214" "00327749" "04214" "00327750" "04214" "00327751" "04214" "00327752" "04214" "00327753" "04214" "00327754" "04214" "00327755" "04214" "00327756" "04214" "00327757" "04214" "00327758" "04214" "00327759" "04214" "00327760" "04214" "00327761" "04214" "00327762" "04214" "00327763" "04214" "00327764" "04214" "00327765" "04214" "00327766" "04214" "00327767" "04214" "00327768" "04214" "00327769" "04214" "00327770" "04214" "00327771" "04214" "00327772" "04214" "00327773" "04214" "00327774" "04214" "00327775" "04214" "00327776" "04214" "00327777" "04214" "00327778" "04214" "00327779" "04214" "00327780" "04214" "00327781" "04214" "00327782" "04214" "00327783" "04214" "00327784" "04214" 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"00327890" "04214" "00327891" "04214" "00327892" "04214" "00327893" "04214" "00327894" "04214" "00327895" "04214" "00327896" "04214" "00327897" "04214" "00327898" "04214" "00327899" "04214" "00327982" "04214" "00328024" "04214" "00328026" "04214" "00328051" "04214" "00328066" "04214" "00328069" "04214" "00328240" "04214" "00328254" "04214" "00328274" "04214" "00328282" "04214" "00328314" "04214" "00328330" "04214" "00328381" "04214" "00328382" "04214" "00328383" "04214" "00328457" "04214" "00328458" "04214" "00328467" "04214" "00328468" "04214" "00328469" "04214" "00328470" "04214" "00328471" "04214" "00328472" "04214" "00332407" "04214" "00333360" "04214" "00333392" "04214" "00333394" "04214" "00333484" "04214" "00333640" "04214" "00333643" "04214" "00333644" "04214" "00333645" "04214" "00334451" "04214" "00334965" "00198" "00335092" "00198" "00335591" "04214" "00335960" "04214" "00335961" "04214" "00358957" "04214" "00362152" "04214" "00362153" "04214" "00362154" "04214" "00362157" "04214" "00363354" "04214" "00363355" "04214" "00363360" "04214" "00363376" "04214" "00363377" "04214" "00363378" "04214" "00363379" "04214" "00363739" "04214" "00372522" "04214" "00372523" "04214" "00372632" "04214" "00373847" "04214" "00374959" "04214" "00374963" "04214" "00375421" "04214" "00375430" "04214" "00376240" "04214" "00376550" "04214" "00376572" "04214" "00376573" "04214" "00376574" "04214" "00376575" "04214" "00376576" "04214" "00376577" "04214" "00376578" "04214" "00376579" "04214" "00376580" "04214" "00376581" "04214" "00376582" "04214" "00376583" "04214" "00376584" "04214" "00376585" "04214" "00376586" "04214" "00376587" "04214" "00376588" "04214" "00376589" "04214" "00376590" "04214" "00376591" "04214" "00376592" "04214" "00376593" "04214" "00376594" "04214" "00376595" "04214" "00376596" "04214" "00376597" "04214" "00376598" "04214" "00376599" "04214" "00376600" "04214" "00376601" "04214" "00376602" "04214" "00376603" "04214" "00376604" "04214" "00376605" "04214" "00376606" "04214" "00376607" "04214" "00376608" "04214" "00376609" "04214" "00376610" "04214" "00376611" "04214" "00376612" "04214" "00376613" "04214" "00376614" "04214" "00376615" "04214" "00376616" "04214" "00376617" "04214" "00376618" "04214" "00376619" "04214" "00376620" "04214" "00376621" "04214" "00376622" "04214" "00376623" "04214" "00376624" "04214" "00376625" "04214" "00376626" "04214" "00376627" "04214" "00376628" "04214" "00376629" "04214" "00376630" "04214" "00376631" "04214" "00376632" "04214" "00376633" "04214" "00376634" "04214" "00376635" "04214" "00376636" "04214" "00376657" "04214" "00376658" "04214" "00376998" "04214" "00376999" "04214" "00377000" "04214" "00377001" "04214" "00377003" "04214" "00377004" "04214" "00377005" "04214" "00377006" "04214" "00377202" "04214" "00377952" "04214" "00379485" "04214" "00379486" "04214" "00379487" "04214" "00379488" "04214" "00379598" "04214" "00379751" "05130" "00381268" "04214" "00381269" "04214" "00381270" "04214" "00381271" "04214" "00381272" "04214" "00381273" "04214" "00381274" "04214" "00381275" "04214" "00381276" "04214" "00381277" "04214" "00381278" "04214" "00381279" "04214" "00381280" "04214" "00381281" "04214" "00381282" "04214" "00381283" "04214" "00381284" "04214" "00381285" "04214" "00381286" "04214" "00381287" "04214" "00381288" "04214" "00381289" "04214" "00381290" "04214" "00381291" "04214" "00381292" "04214" "00381293" "04214" "00381953" "04214" "00382138" "02140" "00382140" "02140" "00382240" "04214" "00382241" "04214" "00382242" "04214" "00382243" "04214" "00382244" "04214" "00382502" "04214" "00382503" "04214" "00382504" "04214" "00382537" "04214" "00382800" "04214" "00383511" "04214" "00384292" "04214" "00384463" "04214" "00384497" "04214" "00384634" "00198" "00385020" "04214" "00385878" "04214" "00385879" "04214" "00386203" "04214" "00386229" "04214" "00386277" "04214" "00386281" "04214" "00386687" "04214" "00386724" "04214" "00387640" "04214" "00389028" "04214" "00389029" "04214" "00389069" "04214" "00389105" "04214" "00389106" "04214" "00389127" "04214" "00389128" "04214" "00389129" "04214" "00389134" "04214" "00390184" "04214" "00390185" "04214" "00390186" "04214" "00390187" "04214" "00390188" "04214" "00390189" "04214" "00390190" "04214" "00390191" "04214" "00390192" "04214" "00390193" "04214" "00390194" "04214" "00390195" "04214" "00390196" "04214" "00391144" "04214" "00391531" "04214" "00391532" "04214" "00391533" "04214" "00391534" "04214" "00391535" "04214" "00391536" "04214" "00392608" "04214" "00392641" "04214" "00393836" "04214" "00394366" "04214" "00394367" "04214" "00394368" "04214" "00395882" "04214" "00396502" "04214" "00401195" "00198" "00403237" "04214" "00403238" "04214" "00403239" "04214" "00403240" "04214" "00403241" "04214" "00403242" "04214" "00403243" "04214" "00403244" "04214" "00403245" "04214" "00403246" "04214" "00403247" "04214" "00403248" "04214" "00403249" "04214" "00403250" "04214" "00403251" "04214" "00403252" "04214" "00403253" "04214" "00403254" "04214" "00403255" "04214" "00403256" "04214" "00403257" "04214" "00403258" "04214" "00403259" "04214" "00403260" "04214" "00403261" "04214" "00403262" "04214" "00403263" "04214" "00403264" "04214" "00403265" "04214" "00403266" "04214" "00403267" "04214" "00403268" "04214" "00403269" "04214" "00403270" "04214" "00403271" "04214" "00403272" "04214" "00403273" "04214" "00403274" "04214" "00403275" "04214" "00403276" "04214" "00403277" "04214" "00403278" "04214" "00403279" "04214" "00403280" "04214" "00403281" "04214" "00403282" "04214" "00403283" "04214" "00404130" "04214" "00404131" "04214" "00404132" "04214" "00404133" "04214" "00404134" "04214" "00404135" "04214" "00404136" "04214" "00404137" "04214" "00404138" "04214" "00404139" "04214" "00404140" "04214" "00404141" "04214" "00404142" "04214" "00404143" "04214" "00404144" "04214" "00404145" "04214" "00404146" "04214" "00404147" "04214" "00404148" "04214" "00404149" "04214" "00404150" "04214" "00404151" "04214" "00404152" "04214" "00404153" "04214" "00404154" "04214" "00404155" "04214" "00404156" "04214" "00404157" "04214" "00404158" "04214" "00404159" "04214" "00404160" "04214" "00404161" "04214" "00404162" "04214" "00404163" "04214" "00404164" "04214" "00404165" "04214" "00404166" "04214" "00404167" "04214" "00404168" "04214" "00404169" "04214" "00404170" "04214" "00404171" "04214" "00404172" "04214" "00404173" "04214" "00404174" "04214" "00404175" "04214" "00404176" "04214" "00404177" "04214" "00404178" "04214" "00404179" "04214" "00404180" "04214" "00404181" "04214" "00404182" "04214" "00404183" "04214" "00404184" "04214" "00404185" "04214" "00404186" "04214" "00404187" "04214" "00404188" "04214" "00404189" "04214" "00404190" "04214" "00404191" "04214" "00411362" "03329" "00417829" "05130" "00418991" "00201" "00419693" "04214" "00420464" "04214" "00426918" "04214" "00444228" "05130" "00444229" "05130" "00444230" "05130" "00444231" "05130" "00444232" "05130" "00444233" "05130" "00444234" "05130" "00444235" "05130" "00444236" "05130" "00444237" "05130" "00444238" "05130" "00444239" "05130" "00444240" "05130" "00444252" "04214" "00444253" "04214" "00446965" "00198" "00447127" "00198" "00447128" "00198" "00447133" "00198" "00447134" "00198" "00447399" "00198" "00447525" "00198" "00447542" "00198" "00447548" "00198" "00447551" "00198" "00447552" "00198" "00447620" "00198" "00447727" "00198" "00450724" "04249" "00450725" "04249" "00450726" "04249" "00450727" "04249" "00450728" "04249" "00450729" "04249" "00450856" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00201, 01157, 02140, 02158, 02168, 03329, 04214, 04249, 04282, 05130 ## Count = 644 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000026283" "00187" "00032854" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026284" "00187" "00032855" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026285" "00187" "00032856" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026286" "00187" "00032857" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026287" "00187" "00032858" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026288" "00187" "00032859" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026289" "00187" "00032860" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026290" "00187" "00032861" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026534" "04214" "00033105" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026536" "04214" "00033107" "00229" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026538" "04214" "00033109" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026542" "04214" "00033113" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026545" "04214" "00033116" "00229" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026547" "04214" "00033118" "00229" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026564" "04214" "00033135" "00229" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026565" "04214" "00033136" "00229" "Unknown" "0d" "congenital stationary night blindness" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026571" "04214" "00033142" "00229" "Unknown" "10y" "age-related mild hearing loss, psoriasis" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "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" "" "" "" "" "" "" "" "" "" "0000067644" "05130" "00088177" "01823" "Familial, X-linked" "" "BCVA - 0.48 LogMAR\r\nRotary Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "" "0000067646" "05130" "00088180" "01823" "Familial, X-linked" "" "BCVA 0.30\r\nHorizontal Jerk nystagmus" "" "" "" "" "" "" "" "" "" "" "" "" "0000078832" "04282" "00039402" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000186420" "05130" "00246569" "00228" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "CSNB-2A" "incomplete congenital stationary night blindness" "" "0000186421" "05130" "00246570" "00228" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "CSNB-2A" "incomplete congenital stationary night blindness" "" "0000186422" "05130" "00246571" "00228" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "CSNB-2A" "incomplete congenital stationary night blindness" "" "0000186423" "05130" "00246572" "00228" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "CSNB-2A" "incomplete congenital stationary night blindness" "" "0000186424" "05130" "00246573" "00228" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "CSNB-2A" "incomplete congenital stationary night blindness" "" "0000186425" "05130" "00246574" "00228" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "CSNB-2A" "incomplete congenital stationary night blindness" "" "0000186426" "05130" "00246575" "00228" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "CSNB-2A" "incomplete congenital stationary night blindness" "" "0000233916" "04214" "00308488" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233917" "04214" "00308489" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233918" "04214" "00308490" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234093" "04214" "00308665" "00004" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000234321" "04214" "00309001" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234322" "04214" "00309002" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234323" "04214" "00309003" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234324" "04214" "00309004" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234325" "04214" "00309005" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234326" "04214" "00309006" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234327" "04214" "00309007" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234328" "04214" "00309008" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234329" "04214" "00309009" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234330" "04214" "00309010" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234331" "04214" "00309011" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234332" "04214" "00309012" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234333" "04214" "00309013" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000241941" "04214" "00319837" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241942" "04214" "00319838" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241943" "04214" "00319839" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000242884" "00198" "00324341" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "" "0000245137" "04214" "00326671" "00008" "Familial, X-linked" "27y" "" "" "" "" "" "" "" "" "" "" "" "CSNB, ablation LE" "" "0000245138" "04214" "00326672" "00008" "Familial, X-linked" "11y" "" "" "" "" "" "" "" "" "" "" "" "CSNB" "" "0000245139" "04214" "00326673" "00008" "Familial, X-linked" "36y" "" "" "" "" "" "" "" "" "" "" "" "CSNB, tilted disc" "" "0000245140" "04214" "00326674" "00008" "Familial, X-linked" "66y" "" "" "" "" "" "" "" "" "" "" "" "CSNB" "" "0000245141" "04214" "00326675" "00008" "Familial, X-linked" "8y" "" "" "" "" "" "" "" "" "" "" "" "CSNB, strabismus" "" "0000245923" "04214" "00327695" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245924" "04214" "00327696" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245925" "04214" "00327697" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245926" "04214" "00327698" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245927" "04214" "00327699" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245928" "04214" "00327700" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245929" "04214" "00327701" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245930" "04214" "00327702" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245931" "04214" "00327703" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245932" "04214" "00327704" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245933" "04214" "00327705" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245934" "04214" "00327706" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245935" "04214" "00327707" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245936" "04214" "00327708" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245937" "04214" "00327709" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245938" "04214" "00327710" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245939" "04214" "00327711" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245940" "04214" "00327712" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "early-onset high myopia" "" "0000245941" "04214" "00327713" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245942" "04214" "00327714" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245943" "04214" "00327715" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245944" "04214" "00327716" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245945" "04214" "00327717" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245946" "04214" "00327718" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245947" "04214" "00327719" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245948" "04214" "00327720" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245949" "04214" "00327721" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245950" "04214" "00327722" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245951" "04214" "00327723" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245952" "04214" "00327724" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245953" "04214" "00327725" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245954" "04214" "00327726" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245955" "04214" "00327727" "00228" "Familial, X-linked" "07y" "see paper; ..., congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000245956" "04214" "00327728" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245957" "04214" "00327729" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245958" "04214" "00327730" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245959" "04214" "00327731" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245960" "04214" "00327732" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245961" "04214" "00327733" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245962" "04214" "00327734" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245963" "04214" "00327735" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245964" "04214" "00327736" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245965" "04214" "00327737" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245966" "04214" "00327738" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245967" "04214" "00327739" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245968" "04214" "00327740" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245969" "04214" "00327741" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245970" "04214" "00327742" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245971" "04214" "00327743" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245972" "04214" "00327744" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245973" "04214" "00327745" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245974" "04214" "00327746" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245975" "04214" "00327747" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245976" "04214" "00327748" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245977" "04214" "00327749" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245978" "04214" "00327750" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245979" "04214" "00327751" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245980" "04214" "00327752" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245981" "04214" "00327753" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245982" "04214" "00327754" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245983" "04214" "00327755" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245984" "04214" "00327756" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245985" "04214" "00327757" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245986" "04214" "00327758" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245987" "04214" "00327759" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245988" "04214" "00327760" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245989" "04214" "00327761" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245990" "04214" "00327762" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245991" "04214" "00327763" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245992" "04214" "00327764" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245993" "04214" "00327765" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245994" "04214" "00327766" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245995" "04214" "00327767" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245996" "04214" "00327768" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245997" "04214" "00327769" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245998" "04214" "00327770" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000245999" "04214" "00327771" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246000" "04214" "00327772" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246001" "04214" "00327773" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246002" "04214" "00327774" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246003" "04214" "00327775" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246004" "04214" "00327776" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246005" "04214" "00327777" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246006" "04214" "00327778" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246007" "04214" "00327779" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246008" "04214" "00327780" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246009" "04214" "00327781" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246010" "04214" "00327782" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246011" "04214" "00327783" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246012" "04214" "00327784" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246013" "04214" "00327785" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246014" "04214" "00327786" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246015" "04214" "00327787" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246016" "04214" "00327788" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246017" "04214" "00327789" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246018" "04214" "00327790" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246019" "04214" "00327791" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246020" "04214" "00327792" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246021" "04214" "00327793" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246022" "04214" "00327794" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246023" "04214" "00327795" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246024" "04214" "00327796" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246025" "04214" "00327797" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246026" "04214" "00327798" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246027" "04214" "00327799" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246028" "04214" "00327800" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246029" "04214" "00327801" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246030" "04214" "00327802" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246031" "04214" "00327803" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246032" "04214" "00327804" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246033" "04214" "00327805" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246034" "04214" "00327806" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246035" "04214" "00327807" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246036" "04214" "00327808" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246037" "04214" "00327809" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246038" "04214" "00327810" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246039" "04214" "00327811" "00228" "Familial, X-linked" "13y" "see paper; ..., congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000246040" "04214" "00327812" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246041" "04214" "00327813" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246042" "04214" "00327814" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246043" "04214" "00327815" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246044" "04214" "00327816" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246045" "04214" "00327817" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246046" "04214" "00327818" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246047" "04214" "00327819" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246048" "04214" "00327820" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246049" "04214" "00327821" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246050" "04214" "00327822" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246051" "04214" "00327823" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246052" "04214" "00327824" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246053" "04214" "00327825" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246054" "04214" "00327826" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246055" "04214" "00327827" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246056" "04214" "00327828" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246057" "04214" "00327829" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246058" "04214" "00327830" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246059" "04214" "00327831" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246060" "04214" "00327832" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246061" "04214" "00327833" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246062" "04214" "00327834" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246063" "04214" "00327835" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246064" "04214" "00327836" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246065" "04214" "00327837" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246066" "04214" "00327838" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246067" "04214" "00327839" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246068" "04214" "00327840" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246069" "04214" "00327841" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246070" "04214" "00327842" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246071" "04214" "00327843" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246072" "04214" "00327844" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246073" "04214" "00327845" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246074" "04214" "00327846" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246075" "04214" "00327847" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246076" "04214" "00327848" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246077" "04214" "00327849" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246078" "04214" "00327850" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246079" "04214" "00327851" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246080" "04214" "00327852" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246081" "04214" "00327853" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246082" "04214" "00327854" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246083" "04214" "00327855" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246084" "04214" "00327856" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246085" "04214" "00327857" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246086" "04214" "00327858" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246087" "04214" "00327859" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246088" "04214" "00327860" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246089" "04214" "00327861" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246090" "04214" "00327862" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246091" "04214" "00327863" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246092" "04214" "00327864" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246093" "04214" "00327865" "00228" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CSNB2A" "incomplete congenital stationary night blindness" "" "0000246094" "04214" "00327866" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246095" "04214" "00327867" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246096" "04214" "00327868" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246097" "04214" "00327869" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246098" "04214" "00327870" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246099" "04214" "00327871" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246100" "04214" "00327872" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246101" "04214" "00327873" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246102" "04214" "00327874" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246103" "04214" "00327875" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246104" "04214" "00327876" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246105" "04214" "00327877" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246106" "04214" "00327878" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246107" "04214" "00327879" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246108" "04214" "00327880" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246109" "04214" "00327881" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246110" "04214" "00327882" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246111" "04214" "00327883" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246112" "04214" "00327884" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246113" "04214" "00327885" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246114" "04214" "00327886" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246115" "04214" "00327887" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246116" "04214" "00327888" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246117" "04214" "00327889" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246118" "04214" "00327890" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246119" "04214" "00327891" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246120" "04214" "00327892" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246121" "04214" "00327893" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246122" "04214" "00327894" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246123" "04214" "00327895" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246124" "04214" "00327896" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246125" "04214" "00327897" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246126" "04214" "00327898" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246127" "04214" "00327899" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "AIED" "Aland Island eye disease" "" "0000246209" "04214" "00327982" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246251" "04214" "00328024" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246253" "04214" "00328026" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246278" "04214" "00328051" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246293" "04214" "00328066" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246296" "04214" "00328069" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246467" "04214" "00328240" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246481" "04214" "00328254" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246501" "04214" "00328274" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246509" "04214" "00328282" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246541" "04214" "00328314" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246557" "04214" "00328330" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246607" "04214" "00328381" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246608" "04214" "00328382" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246609" "04214" "00328383" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246683" "04214" "00328457" "00000" "Familial, X-linked" "10y" "cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246684" "04214" "00328458" "00000" "Familial, X-linked" "1y" "cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246693" "04214" "00328467" "00000" "Familial, X-linked" "10y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246694" "04214" "00328468" "00000" "Familial, X-linked" "6y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246695" "04214" "00328469" "00000" "Familial, X-linked" "4y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246696" "04214" "00328470" "00000" "Familial, X-linked" "9y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246697" "04214" "00328471" "00000" "Familial, X-linked" "9y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246698" "04214" "00328472" "00000" "Familial, X-linked" "11y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000250593" "04214" "00332407" "00000" "Unknown" "6y" "horizontal jerk nystagmus; fundus grossly normal; no oculodigital sign; ERG negative" "" "" "" "" "" "" "" "" "" "CSNB" "idiopathic infantile nystagmus" "" "0000251547" "04214" "00333360" "00000" "Familial, autosomal dominant" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251579" "04214" "00333392" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CSNB" "" "0000251581" "04214" "00333394" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "RP" "" "0000251669" "04214" "00333484" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251824" "04214" "00333640" "00000" "Familial, X-linked" "6y" "clinical category IA2f" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness v congential stationary synaptic dysfunction" "" "0000251827" "04214" "00333643" "00000" "Familial, X-linked" "45y" "clinical category IA2g" "" "" "" "" "" "" "" "" "" "" "congenital stationary synaptic dysfunction" "" "0000251828" "04214" "00333644" "00000" "Familial, X-linked" "52y" "clinical category IA2g" "" "" "" "" "" "" "" "" "" "" "congential stationary synaptic dysfunction" "" "0000251829" "04214" "00333645" "00000" "Familial, X-linked" "15y" "clinical category IA2g" "" "" "" "" "" "" "" "" "" "" "congenital stationary synaptic dysfunction" "" "0000252540" "04214" "00334451" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinopathy" "" "0000252712" "00198" "00334965" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" "0000252807" "00198" "00335092" "00000" "Unknown" "" "42y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253536" "04214" "00335591" "00008" "Familial, X-linked" "27y" "" "" "" "" "" "" "" "" "" "" "" "CSNB, ablation LE" "" "0000253875" "04214" "00335960" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000253876" "04214" "00335961" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254255" "04214" "00358957" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000257566" "04214" "00362152" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000257567" "04214" "00362153" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000257568" "04214" "00362154" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000257571" "04214" "00362157" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258719" "04214" "00363354" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258720" "04214" "00363355" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258725" "04214" "00363360" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258741" "04214" "00363376" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258742" "04214" "00363377" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258743" "04214" "00363378" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258744" "04214" "00363379" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000259089" "04214" "00363739" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000267836" "04214" "00372522" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000267837" "04214" "00372523" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000267911" "04214" "00372632" "00000" "Isolated (sporadic)" "31y" "see paper; ..." "26y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269056" "04214" "00373847" "00000" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270169" "04214" "00374959" "00000" "Isolated (sporadic)" "10y" "best corrected visual acuity 0.3/0.25" "6y" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000270173" "04214" "00374963" "00000" "Isolated (sporadic)" "56y" "best corrected visual acuity fingers count/fingers count" "10y" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000270635" "04214" "00375421" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270644" "04214" "00375430" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271448" "04214" "00376240" "00000" "Familial, autosomal recessive" "60y" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000271757" "04214" "00376550" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271779" "04214" "00376572" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271780" "04214" "00376573" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271781" "04214" "00376574" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271782" "04214" "00376575" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271783" "04214" "00376576" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271784" "04214" "00376577" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271785" "04214" "00376578" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271786" "04214" "00376579" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271787" "04214" "00376580" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271788" "04214" "00376581" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271789" "04214" "00376582" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271790" "04214" "00376583" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Incomplete congenital stationary night blindness" "" "0000271791" "04214" "00376584" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271792" "04214" "00376585" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271793" "04214" "00376586" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271794" "04214" "00376587" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271795" "04214" "00376588" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271796" "04214" "00376589" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271797" "04214" "00376590" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271798" "04214" "00376591" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271799" "04214" "00376592" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271800" "04214" "00376593" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271801" "04214" "00376594" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271802" "04214" "00376595" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271803" "04214" "00376596" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271804" "04214" "00376597" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271805" "04214" "00376598" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271806" "04214" "00376599" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Incomplete congenital stationary night blindness" "" "0000271807" "04214" "00376600" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271808" "04214" "00376601" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271809" "04214" "00376602" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271810" "04214" "00376603" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271811" "04214" "00376604" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271812" "04214" "00376605" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271813" "04214" "00376606" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271814" "04214" "00376607" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271815" "04214" "00376608" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271816" "04214" "00376609" "00000" "Familial" "" "" "12y" "" "" "" "" "" "" "" "" "" "Incomplete congenital stationary night blindness" "" "0000271817" "04214" "00376610" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271818" "04214" "00376611" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271819" "04214" "00376612" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271820" "04214" "00376613" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271821" "04214" "00376614" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271822" "04214" "00376615" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271823" "04214" "00376616" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271824" "04214" "00376617" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271825" "04214" "00376618" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271826" "04214" "00376619" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271827" "04214" "00376620" "00000" "Familial, X-linked" "" "" "18y" "" "" "" "" "" "" "" "" "" "Incomplete congenital stationary night blindness" "" "0000271828" "04214" "00376621" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271829" "04214" "00376622" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271830" "04214" "00376623" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271831" "04214" "00376624" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Incomplete congenital stationary night blindness" "" "0000271832" "04214" "00376625" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271833" "04214" "00376626" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271834" "04214" "00376627" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271835" "04214" "00376628" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271836" "04214" "00376629" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271837" "04214" "00376630" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271838" "04214" "00376631" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271839" "04214" "00376632" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271840" "04214" "00376633" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271841" "04214" "00376634" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271842" "04214" "00376635" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271843" "04214" "00376636" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271864" "04214" "00376657" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271865" "04214" "00376658" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000272189" "04214" "00376998" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Nightblindness-Associated Transient Tonic Downgaze" "" "0000272190" "04214" "00376999" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Nightblindness-Associated Transient Tonic Downgaze" "" "0000272191" "04214" "00377000" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Nightblindness-Associated Transient Tonic Downgaze" "" "0000272192" "04214" "00377001" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Nightblindness-Associated Transient Tonic Downgaze" "" "0000272194" "04214" "00377003" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Nightblindness-Associated Transient Tonic Downgaze" "" "0000272195" "04214" "00377004" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Nightblindness-Associated Transient Tonic Downgaze" "" "0000272196" "04214" "00377005" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Nightblindness-Associated Transient Tonic Downgaze" "" "0000272197" "04214" "00377006" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Nightblindness-Associated Transient Tonic Downgaze" "" "0000272360" "04214" "00377202" "00000" "Familial, X-linked recessive" "10y" "see paper" "6y" "" "10y" "" "" "" "" "" "" "" "retinal disease" "" "0000273098" "04214" "00377952" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete Congenital Stationary Night Blindness" "" "0000273358" "04214" "00379485" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273359" "04214" "00379486" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273360" "04214" "00379487" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273361" "04214" "00379488" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273452" "04214" "00379598" "00008" "Familial, X-linked" "1y" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000273605" "05130" "00379751" "03508" "Familial, X-linked recessive" "" "HP:0030515,\tHP:0001123,\tHP:0000639,\tHP:0000662" "" "" "" "" "" "" "" "" "" "" "blindness, night, stationary, congenital (CSNB)" "" "0000275119" "04214" "00381268" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275120" "04214" "00381269" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275121" "04214" "00381270" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275122" "04214" "00381271" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275123" "04214" "00381272" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275124" "04214" "00381273" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275125" "04214" "00381274" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275126" "04214" "00381275" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275127" "04214" "00381276" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275128" "04214" "00381277" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275129" "04214" "00381278" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275130" "04214" "00381279" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275131" "04214" "00381280" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275132" "04214" "00381281" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275133" "04214" "00381282" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275134" "04214" "00381283" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275135" "04214" "00381284" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275136" "04214" "00381285" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275137" "04214" "00381286" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275138" "04214" "00381287" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275139" "04214" "00381288" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275140" "04214" "00381289" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275141" "04214" "00381290" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275142" "04214" "00381291" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275143" "04214" "00381292" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275144" "04214" "00381293" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275795" "04214" "00381953" "00000" "Familial, autosomal recessive" "20y" "BCVA OD-OS:1/6-1/10; nystagmus" "6m" "" "" "" "" "" "" "" "" "Congenital statonary night blindness" "" "" "0000275980" "02140" "00382138" "00000" "Familial, X-linked" "" "retinal dystrophy; MIM, 300071, 300600, or 300476" "" "" "" "" "" "" "" "" "" "" "MIM, 300071, 300600, or 300476" "" "0000275982" "02140" "00382140" "00000" "Familial, X-linked" "" "retinal dystrophy; MIM, 300071, 300600, or 300476" "" "" "" "" "" "" "" "" "" "" "MIM, 300071, 300600, or 300476" "" "0000276089" "04214" "00382240" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" "" "0000276090" "04214" "00382241" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276091" "04214" "00382242" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Aland eye disease" "" "0000276092" "04214" "00382243" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Aland eye disease" "" "0000276093" "04214" "00382244" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Aland eye disease" "" "0000276351" "04214" "00382502" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Aland eye disease" "" "0000276352" "04214" "00382503" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000276353" "04214" "00382504" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276386" "04214" "00382537" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276656" "04214" "00382800" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000277296" "04214" "00383511" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" "" "0000278077" "04214" "00384292" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000278248" "04214" "00384463" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "high myopia+nystagmus" "" "0000278282" "04214" "00384497" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Early onset retinitis pigmentosa+high myopia" "" "0000278424" "00198" "00384634" "00000" "Unknown" "" "congenital stationary night blindness (XL) and single kidney and amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "Mixed" "Congenital stationary night blindness and single kidney and amelogenesis imperfecta" "" "0000278804" "04214" "00385020" "00000" "Isolated (sporadic)" "4y" "nyctalopia, nystagmus, no oculodigital sign, best corrected visual acuity right/left eye: NA" "1y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000279681" "04214" "00385878" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Retinal disease" "" "0000279682" "04214" "00385879" "00000" "Familial, X-linked" "13y" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "Retinal disease" "" "0000280006" "04214" "00386203" "00000" "Familial, X-linked" "16y" "" "" "" "6y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" "0000280032" "04214" "00386229" "00000" "Familial, autosomal recessive" "59y" "" "" "" "40y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000280080" "04214" "00386277" "00000" "Familial, autosomal recessive" "45y" "" "" "" "34y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000280084" "04214" "00386281" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280487" "04214" "00386687" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280524" "04214" "00386724" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281203" "04214" "00387640" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "Childhood retinal disease" "" "0000282569" "04214" "00389028" "00000" "Familial, X-linked" "57y" "age at genetic diagnosis mentioned" "" "" "49y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000282570" "04214" "00389029" "00000" "Familial, X-linked" "28y" "age at genetic diagnosis mentioned" "" "" "20y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000282610" "04214" "00389069" "00000" "Familial, X-linked" "19y" "age at genetic diagnosis mentioned" "" "" "14y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000282646" "04214" "00389105" "00000" "Familial, X-linked" "14y" "age at genetic diagnosis mentioned" "" "" "13y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000282647" "04214" "00389106" "00000" "Familial, X-linked" "13y" "age at genetic diagnosis mentioned" "" "" "12y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000282668" "04214" "00389127" "00000" "Familial, X-linked dominant" "95y" "age at genetic diagnosis mentioned" "" "" "94y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000282669" "04214" "00389128" "00000" "Familial, X-linked dominant" "68y" "age at genetic diagnosis mentioned" "" "" "67y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000282670" "04214" "00389129" "00000" "Familial, X-linked dominant" "38y" "age at genetic diagnosis mentioned" "" "" "36y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000282675" "04214" "00389134" "00000" "Familial, X-linked" "47y" "age at genetic diagnosis mentioned" "" "" "46y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000283722" "04214" "00390184" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283723" "04214" "00390185" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283724" "04214" "00390186" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283725" "04214" "00390187" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283726" "04214" "00390188" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283727" "04214" "00390189" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283728" "04214" "00390190" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283729" "04214" "00390191" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283730" "04214" "00390192" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283731" "04214" "00390193" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283732" "04214" "00390194" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283733" "04214" "00390195" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283734" "04214" "00390196" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284586" "04214" "00391144" "00000" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284867" "04214" "00391531" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000284868" "04214" "00391532" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000284869" "04214" "00391533" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000284870" "04214" "00391534" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000284871" "04214" "00391535" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000284872" "04214" "00391536" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000285855" "04214" "00392608" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285888" "04214" "00392641" "00000" "Familial, X-linked" "" "initial diagnosis of autosomal dominant retinitis pigmentosa redifined to cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "retinitis pigmentosa" "" "0000287042" "04214" "00393836" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287570" "04214" "00394366" "00000" "Familial, X-linked recessive" "" "Congenital nystagmus, visual impairment, and myopia, consistent with,,incomplete typeof XLCSNB" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "" "0000287571" "04214" "00394367" "00000" "Familial, X-linked recessive" "" "Reduced visual acuity, consistent with,,incomplete type of XLCSNB" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "" "0000287572" "04214" "00394368" "00000" "Familial, X-linked recessive" "" "Nystagmus in childhood. Color blind, retinal degeneration, N/A" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "" "0000289044" "04214" "00395882" "00000" "Unknown" "34y4m" "" "5y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000289663" "04214" "00396502" "00000" "Isolated (sporadic)" "58y" "night blindness" "30y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000294238" "00198" "00401195" "00006" "Unknown" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000295980" "04214" "00403237" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Aland Island eye disease (AIED) (Forsius-Eriksson syndrome)" "" "0000295981" "04214" "00403238" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "X linked cone-rod dystrophy (CORDX)" "" "0000295982" "04214" "00403239" "00000" "Familial, X-linked" "6y" "nyctalopia since childhood, photophobia, high myopia, a mild red-green color deficit, hypopigmented fundus, and foveal hypoplasia" "" "" "" "" "" "" "" "" "" "" "X-linked incomplete congenital stationary night blindness (CSNB2A); Aland Island eye disease (AIED)" "" "0000295983" "04214" "00403240" "00000" "Familial, X-linked" "56y" "nyctalopia since childhood" "" "" "" "" "" "" "" "" "" "" "X-linked incomplete congenital stationary night blindness (CSNB2A); Aland Island eye disease (AIED)" "" "0000295984" "04214" "00403242" "00000" "Familial, X-linked" "15y" "nonprogressive nyctalopia and diminution of distance vision since childhood" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000295985" "04214" "00403243" "00000" "Familial, X-linked recessive" "" "nonprogressive night blindness and subnormal visual acuity" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000295986" "04214" "00403244" "00000" "Familial, X-linked" "" "causes a dramatic approximately 30-mV shift in the voltage dependence of Cav1.4 channel activation" "" "" "" "" "" "" "" "" "" "" "unusual phenotype, similiar to X-linked incomplete congenital stationary night blindness (CSNB2)" "" "0000295987" "04214" "00403245" "00000" "Familial, X-linked recessive" "72y" "photophobia, decreased visual acuity, and severe myopia." "" "" "" "" "" "" "" "" "" "" "Cone-Rod Dystrophy 3-Like" "" "0000295988" "04214" "00403246" "00000" "Familial, X-linked recessive" "51y" "decreased visual acuity (OD (right eye) 0.16; OS (left eye) 0.2), colour vision defects and severe myopia" "" "" "" "" "" "" "" "" "" "" "Cone-Rod Dystrophy 3-Like" "" "0000295989" "04214" "00403247" "00000" "Familial, X-linked recessive" "8y" "reduced visual acuity and nystagmus, but did not report photophobia or nyctalopia, myopia" "" "" "" "" "" "" "" "" "" "" "Cone-Rod Dystrophy 3-Like" "" "0000295990" "04214" "00403248" "00000" "Familial, X-linked recessive" "3y" "intermittent exotropia, myopia" "" "" "" "" "" "" "" "" "" "" "Cone-Rod Dystrophy 3-Like" "" "0000295991" "04214" "00403249" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000295992" "04214" "00403250" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000295993" "04214" "00403251" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000295994" "04214" "00403252" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000295995" "04214" "00403253" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000295996" "04214" "00403254" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000295997" "04214" "00403255" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000295998" "04214" "00403256" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000295999" "04214" "00403257" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000296000" "04214" "00403258" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB2)" "" "0000296001" "04214" "00403259" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000296002" "04214" "00403260" "00000" "Familial, X-linked" "3m" "nystagmus, normal visual attention, and a normal fundus exam. ERG responses were severely decreased" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB2)" "Leber congenital amaurosis (LCA)" "" "0000296003" "04214" "00403261" "00000" "Familial, X-linked" "5m" "nystagmus, severe hyperopia, esotropia, and visual acuity of 20/360 oculus dexter (OD) and 20/270 oculus sinister (OS)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB2)" "Leber congenital amaurosis (LCA)" "" "0000296004" "04214" "00403262" "00000" "Familial, X-linked" "4y" "" "" "" "" "" "" "" "" "" "" "" "High Myopia and Reduced Visual Acuity" "" "0000296005" "04214" "00403263" "00000" "Familial, X-linked" "2y" "" "" "" "" "" "" "" "" "" "" "" "High Myopia and Reduced Visual Acuity" "" "0000296006" "04214" "00403264" "00000" "Familial, X-linked" "20y" "Horizontal Nystagmus" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296007" "04214" "00403266" "00000" "Familial, X-linked" "61y" "High Myopia; Horizontal Nystagmus" "" "" "" "" "" "" "" "" "" "" "High Myopia; Horizontal Nystagmus" "" "0000296008" "04214" "00403267" "00000" "Familial, X-linked" "37y" "Horizontal Nystagmus" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296009" "04214" "00403268" "00000" "Familial, X-linked" "36y" "Hypermetropia; Horizontal Nystagmus" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296010" "04214" "00403269" "00000" "Familial, X-linked" "80y" "Myopia; Pendular Nystagmus Horizontal" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296011" "04214" "00403270" "00000" "Familial, X-linked" "55y" "Myopia; Nyctalopia" "" "" "" "" "" "" "" "" "" "" "Myopia; Nyctalopia" "" "0000296012" "04214" "00403271" "00000" "Familial, X-linked" "32y" "Myopia; Horizontal Pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296013" "04214" "00403272" "00000" "Familial, X-linked" "5y" "Myopic astigmatism; Horizontal Pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296014" "04214" "00403273" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296015" "04214" "00403274" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296016" "04214" "00403275" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296017" "04214" "00403276" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296018" "04214" "00403277" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296019" "04214" "00403278" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296020" "04214" "00403279" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296021" "04214" "00403280" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296022" "04214" "00403281" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296023" "04214" "00403282" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296024" "04214" "00403283" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness (CSNB)" "" "0000296719" "04214" "00404130" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296720" "04214" "00404131" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296721" "04214" "00404132" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296722" "04214" "00404133" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296723" "04214" "00404134" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296724" "04214" "00404135" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296725" "04214" "00404136" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296726" "04214" "00404137" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296727" "04214" "00404138" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296728" "04214" "00404139" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296729" "04214" "00404140" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296730" "04214" "00404141" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296731" "04214" "00404142" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296732" "04214" "00404143" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296733" "04214" "00404144" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296734" "04214" "00404145" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296735" "04214" "00404146" "00000" "Familial, X-linked" "49y" "Myopic; tilted disc; Orthophoria" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296736" "04214" "00404147" "00000" "Familial, X-linked" "14y" "Orthophoria" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296737" "04214" "00404148" "00000" "Familial, X-linked" "9y" "Myopic; tilted disc; goldish metallic reflex; Orthophoria, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296738" "04214" "00404149" "00000" "Familial, X-linked" "49y" "Myopic; tilted disc; Orthophoria" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296739" "04214" "00404150" "00000" "Familial, X-linked" "14y" "Orthophoria" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296740" "04214" "00404151" "00000" "Familial, X-linked" "9y" "Myopic; tilted disc; goldish metallic reflex; Orthophoria, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296741" "04214" "00404152" "00000" "Familial, X-linked" "8y" "Tilted disc; Exotropia, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296742" "04214" "00404153" "00000" "Familial, X-linked" "8y" "Tilted disc; Exotropia, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296743" "04214" "00404154" "00000" "Unknown" "27y" "Myopic; tilted disc; Orthophoria" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296744" "04214" "00404155" "00000" "Unknown" "27y" "Myopic; tilted disc; Orthophoria" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296745" "04214" "00404156" "00000" "Unknown" "12y" "Goldish metallic reflex; Orthophoria, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296746" "04214" "00404157" "00000" "Familial, X-linked" "35y" "Exotropia, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296747" "04214" "00404158" "00000" "Familial, X-linked" "35y" "Exotropia, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296748" "04214" "00404159" "00000" "Unknown" "49y" "Myopic; tilted disc; Orthophoria" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296749" "04214" "00404160" "00000" "Unknown" "14y" "Orthophoria" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296750" "04214" "00404161" "00000" "Unknown" "9y" "Myopic; tilted disc; goldish metallic reflex; Orthophoria, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296751" "04214" "00404162" "00000" "Unknown" "8y" "Tilted disc; Exotropia, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296752" "04214" "00404163" "00000" "Unknown" "27y" "Myopic; tilted disc; Orthophoria" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296753" "04214" "00404164" "00000" "Unknown" "12y" "Goldish metallic reflex; Orthophoria, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296754" "04214" "00404165" "00000" "Unknown" "35y" "Exotropia, nystagmus" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296755" "04214" "00404166" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296756" "04214" "00404167" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296757" "04214" "00404168" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296758" "04214" "00404169" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296759" "04214" "00404170" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296760" "04214" "00404171" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296761" "04214" "00404172" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296762" "04214" "00404173" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296763" "04214" "00404174" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296764" "04214" "00404175" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296765" "04214" "00404176" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296766" "04214" "00404177" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296767" "04214" "00404178" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296768" "04214" "00404179" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296769" "04214" "00404180" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296770" "04214" "00404181" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296771" "04214" "00404182" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296772" "04214" "00404183" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296773" "04214" "00404184" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296774" "04214" "00404185" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296775" "04214" "00404186" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296776" "04214" "00404187" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296777" "04214" "00404188" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296778" "04214" "00404189" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296779" "04214" "00404190" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000296780" "04214" "00404191" "00000" "Familial, X-linked" "07y" "see paper; no strabismus, 4 Hz multiplanar nystagmus bilateral symmetric" "01y" "" "" "" "" "" "" "" "" "CNSB2A" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000303401" "03329" "00411362" "01164" "Familial, X-linked recessive" "" "Nystagmus" "" "" "05y" "" "" "" "" "" "" "" "" "" "0000309197" "05130" "00417829" "04385" "Familial, X-linked recessive" "15y" "see paper; ..., night blindness, bilateral high myopia" "" "" "" "" "" "" "" "" "" "" "night blindness, bilateral high myopia" "" "0000310278" "00201" "00418991" "00006" "Familial, autosomal recessive" "36y" "see paper; ..., extreme oligozoospermia, all sperm malformed; unsuccessful testicular sperm extraction" "" "" "" "" "" "" "" "" "" "" "male infertility" "" "0000310973" "04214" "00419693" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000311712" "04214" "00420464" "00000" "Familial, X-linked" "34y4m" "" "5y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000318056" "04214" "00426918" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "congenital stationary night blindness" "" "0000333481" "05130" "00444228" "00006" "Familial, X-linked" "3y" "see paper; ..., no strabismus, gaze evoked nystagmus" "1y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333482" "05130" "00444229" "00006" "Familial, X-linked" "3y" "see paper; ..., strabismus, 3-4 Hz /right/left beating jerk bilateral symmetric nystagmus" "1y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333483" "05130" "00444230" "00006" "Familial, X-linked" "3y" "see paper; ..., strabismus, 5 Hz small amplitude pendular nystagmus" "1y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333484" "05130" "00444231" "00006" "Familial, X-linked" "3y" "see paper; ..., no strabismus, 4 Hz fine amplitude pendular nystagmus" "2y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333485" "05130" "00444232" "00006" "Familial, X-linked" "3y" "see paper; ..., strabismus, no nystagmus" "2y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333486" "05130" "00444233" "00006" "Familial, X-linked" "4y" "see paper; ..., no strabismus, 3-4 Hz left beating jerk bilateral symmetric nystagmus" "1y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333487" "05130" "00444234" "00006" "Familial, X-linked" "4y" "see paper; ..., strabismus, no nystagmus" "2y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333488" "05130" "00444235" "00006" "Familial, X-linked" "5y" "see paper; ..., no strabismus, gaze evoked nystagmus" "4y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333489" "05130" "00444236" "00006" "Familial, X-linked" "5y" "see paper; ..., strabismus, 3 Hz upbeat jerk bilateral symmetric nystagmus" "1y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333490" "05130" "00444237" "00006" "Familial, X-linked" "7y" "see paper; ..., no strabismus, gaze evoked nystagmus" "4y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333491" "05130" "00444238" "00006" "Familial, X-linked" "9y" "see paper; ..., no strabismus, no nystagmus" "6y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333492" "05130" "00444239" "00006" "Familial, X-linked" "10y" "see paper; ..., no strabismus, no nystagmus" "8y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333493" "05130" "00444240" "00006" "Familial, X-linked" "13y" "see paper; ..., no strabismus, gaze evoked nystagmus" "6y" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" "" "0000333505" "04214" "00444252" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "idiopathic infantile nystagmus" "" "0000333506" "04214" "00444253" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "idiopathic infantile nystagmus" "" "0000336164" "00198" "00446965" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336326" "00198" "00447127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336327" "00198" "00447128" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336332" "00198" "00447133" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336333" "00198" "00447134" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336598" "00198" "00447399" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336724" "00198" "00447525" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336741" "00198" "00447542" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336747" "00198" "00447548" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336750" "00198" "00447551" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336751" "00198" "00447552" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336819" "00198" "00447620" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336926" "00198" "00447727" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" "" "0000339779" "04249" "00450724" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339780" "04249" "00450725" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339781" "04249" "00450726" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339782" "04249" "00450727" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339783" "04249" "00450728" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (AD)" "" "0000339784" "04249" "00450729" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339911" "04249" "00450856" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 647 "{{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" "" "" "0000032922" "00032854" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000032923" "00032855" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000032924" "00032856" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000032925" "00032857" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000032926" "00032858" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000032927" "00032859" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000032928" "00032860" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000032929" "00032861" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:32" "SEQ" "DNA" "" "" "0000033173" "00033105" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033175" "00033107" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033177" "00033109" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033181" "00033113" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033184" "00033116" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033186" "00033118" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033203" "00033135" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033204" "00033136" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033210" "00033142" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000039643" "00039402" "1" "01158" "01158" "2015-06-15 15:11:33" "" "" "SEQ-NG" "DNA" "" "" "0000088321" "00088177" "1" "01823" "01823" "2016-11-24 12:01:15" "" "" "SEQ-NG" "DNA" "" "" "0000088323" "00088180" "1" "01823" "01823" "2016-11-24 12:10:37" "" "" "SEQ-NG" "DNA" "" "" "0000247681" "00246569" "1" "00228" "00006" "2019-07-12 19:10:49" "" "" "SEQ" "DNA" "" "WES" "0000247682" "00246570" "1" "00228" "00006" "2019-07-12 19:10:49" "" "" "SEQ" "DNA" "" "WES" "0000247683" "00246571" "1" "00228" "00006" "2019-07-12 19:10:49" "" "" "SEQ" "DNA" "" "gene panel" "0000247684" "00246572" "1" "00228" "00006" "2019-07-12 19:10:49" "" "" "SEQ" "DNA" "" "" "0000247685" "00246573" "1" "00228" "00006" "2019-07-12 19:10:49" "" "" "SEQ" "DNA" "" "" "0000247686" "00246574" "1" "00228" "00006" "2019-07-12 19:10:49" "" "" "SEQ" "DNA" "" "" "0000247687" "00246575" "1" "00228" "00006" "2019-07-12 19:10:49" "" "" "SEQ" "DNA" "" "" "0000296239" "00295071" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309633" "00308488" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309634" "00308489" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309635" "00308490" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309810" "00308665" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel" "0000310146" "00309001" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310147" "00309002" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310148" "00309003" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310149" "00309004" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310150" "00309005" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310151" "00309006" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310152" "00309007" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310153" "00309008" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310154" "00309009" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310155" "00309010" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310156" "00309011" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310157" "00309012" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310158" "00309013" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000321018" "00319837" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321019" "00319838" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321020" "00319839" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000325531" "00324341" "1" "01807" "01807" "2020-12-07 15:30:01" "" "" "SEQ" "DNA" "" "" "0000327884" "00326671" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC; SSCA; SEQ" "DNA" "blood" "" "0000327885" "00326672" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC; SSCA; SEQ" "DNA" "blood" "" "0000327886" "00326673" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC; SSCA; SEQ" "DNA" "blood" "" "0000327887" "00326674" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC; SSCA; SEQ" "DNA" "blood" "" "0000327888" "00326675" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC; SSCA; SEQ" "DNA" "blood" "" "0000328910" "00327695" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328911" "00327696" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328912" "00327697" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328913" "00327698" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328914" "00327699" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328915" "00327700" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328916" "00327701" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328917" "00327702" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328918" "00327703" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328919" "00327704" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328920" "00327705" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328921" "00327706" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328922" "00327707" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328923" "00327708" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328924" "00327709" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328925" "00327710" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328926" "00327711" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328927" "00327712" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328928" "00327713" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328929" "00327714" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328930" "00327715" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328931" "00327716" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328932" "00327717" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328933" "00327718" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328934" "00327719" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328935" "00327720" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328936" "00327721" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328937" "00327722" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328938" "00327723" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328939" "00327724" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328940" "00327725" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328941" "00327726" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328942" "00327727" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328943" "00327728" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328944" "00327729" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328945" "00327730" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328946" "00327731" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328947" "00327732" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328948" "00327733" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328949" "00327734" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328950" "00327735" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328951" "00327736" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328952" "00327737" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328953" "00327738" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328954" "00327739" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328955" "00327740" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328956" "00327741" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328957" "00327742" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328958" "00327743" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328959" "00327744" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328960" "00327745" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328961" "00327746" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328962" "00327747" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328963" "00327748" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328964" "00327749" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328965" "00327750" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328966" "00327751" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328967" "00327752" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328968" "00327753" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328969" "00327754" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328970" "00327755" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328971" "00327756" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328972" "00327757" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328973" "00327758" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328974" "00327759" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328975" "00327760" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328976" "00327761" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328977" "00327762" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328978" "00327763" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328979" "00327764" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328980" "00327765" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328981" "00327766" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328982" "00327767" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328983" "00327768" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328984" "00327769" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328985" "00327770" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328986" "00327771" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328987" "00327772" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328988" "00327773" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328989" "00327774" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328990" "00327775" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328991" "00327776" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328992" "00327777" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328993" "00327778" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328994" "00327779" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328995" "00327780" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328996" "00327781" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328997" "00327782" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328998" "00327783" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000328999" "00327784" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329000" "00327785" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329001" "00327786" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329002" "00327787" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329003" "00327788" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329004" "00327789" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329005" "00327790" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329006" "00327791" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329007" "00327792" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329008" "00327793" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329009" "00327794" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329010" "00327795" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329011" "00327796" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329012" "00327797" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329013" "00327798" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329014" "00327799" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329015" "00327800" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329016" "00327801" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329017" "00327802" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329018" "00327803" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329019" "00327804" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329020" "00327805" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329021" "00327806" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329022" "00327807" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329023" "00327808" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329024" "00327809" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329025" "00327810" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329026" "00327811" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329027" "00327812" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329028" "00327813" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329029" "00327814" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329030" "00327815" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329031" "00327816" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329032" "00327817" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329033" "00327818" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329034" "00327819" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329035" "00327820" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329036" "00327821" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329037" "00327822" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329038" "00327823" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329039" "00327824" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329040" "00327825" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329041" "00327826" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329042" "00327827" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329043" "00327828" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329044" "00327829" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329045" "00327830" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329046" "00327831" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329047" "00327832" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329048" "00327833" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329049" "00327834" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329050" "00327835" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329051" "00327836" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329052" "00327837" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329053" "00327838" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329054" "00327839" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329055" "00327840" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329056" "00327841" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329057" "00327842" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329058" "00327843" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329059" "00327844" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329060" "00327845" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329061" "00327846" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329062" "00327847" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329063" "00327848" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329064" "00327849" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329065" "00327850" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329066" "00327851" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329067" "00327852" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329068" "00327853" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329069" "00327854" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329070" "00327855" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329071" "00327856" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329072" "00327857" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329073" "00327858" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329074" "00327859" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329075" "00327860" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329076" "00327861" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329077" "00327862" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329078" "00327863" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329079" "00327864" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329080" "00327865" "1" "00228" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329081" "00327866" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329082" "00327867" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329083" "00327868" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329084" "00327869" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329085" "00327870" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329086" "00327871" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329087" "00327872" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329088" "00327873" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329089" "00327874" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329090" "00327875" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329091" "00327876" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329092" "00327877" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329093" "00327878" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329094" "00327879" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329095" "00327880" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329096" "00327881" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329097" "00327882" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329098" "00327883" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329099" "00327884" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329100" "00327885" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329101" "00327886" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329102" "00327887" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329103" "00327888" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329104" "00327889" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329105" "00327890" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329106" "00327891" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329107" "00327892" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329108" "00327893" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329109" "00327894" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329110" "00327895" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329111" "00327896" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329112" "00327897" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329113" "00327898" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329114" "00327899" "1" "00000" "00006" "2021-01-26 18:51:45" "" "" "SEQ" "DNA" "" "" "0000329197" "00327982" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329239" "00328024" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329241" "00328026" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329266" "00328051" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329281" "00328066" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329284" "00328069" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329455" "00328240" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329469" "00328254" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329489" "00328274" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329497" "00328282" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329529" "00328314" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329545" "00328330" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329595" "00328381" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329596" "00328382" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329597" "00328383" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329672" "00328457" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329673" "00328458" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329682" "00328467" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329683" "00328468" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329684" "00328469" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329685" "00328470" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329686" "00328471" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329687" "00328472" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000333631" "00332407" "1" "00000" "00006" "2021-02-18 13:23:10" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000334585" "00333360" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334617" "00333392" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334619" "00333394" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334709" "00333484" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" "" "0000334866" "00333640" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334869" "00333643" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334870" "00333644" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334871" "00333645" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335680" "00334451" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000336196" "00334965" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000336321" "00335092" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336819" "00335591" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "DHPLC; SSCA; SEQ" "DNA" "blood" "" "0000337190" "00335960" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000337191" "00335961" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360194" "00358957" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000363381" "00362152" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000363382" "00362153" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000363383" "00362154" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000363386" "00362157" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000364582" "00363354" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364583" "00363355" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364588" "00363360" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364604" "00363376" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364605" "00363377" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364606" "00363378" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364607" "00363379" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364967" "00363739" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373755" "00372522" "1" "00006" "00006" "2021-05-08 12:19:41" "" "" "SEQ-NG" "DNA" "" "" "0000373756" "00372523" "1" "00006" "00006" "2021-05-08 12:22:23" "" "" "SEQ-NG" "DNA" "" "" "0000373864" "00372632" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375079" "00373847" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000376153" "00374959" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376157" "00374963" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376618" "00375421" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376627" "00375430" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377436" "00376240" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "?" "DNA" "" "Methods described in Aleman 2007, Jacobson 2006, Jacobson 1987 and Roman 2016" "0000377755" "00376550" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377777" "00376572" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377778" "00376573" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377779" "00376574" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377780" "00376575" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377781" "00376576" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377782" "00376577" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377783" "00376578" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377784" "00376579" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377785" "00376580" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377786" "00376581" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377787" "00376582" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377788" "00376583" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377789" "00376584" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377790" "00376585" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377791" "00376586" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377792" "00376587" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377793" "00376588" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377794" "00376589" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377795" "00376590" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377796" "00376591" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377797" "00376592" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377798" "00376593" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377799" "00376594" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377800" "00376595" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377801" "00376596" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377802" "00376597" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377803" "00376598" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377804" "00376599" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377805" "00376600" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377806" "00376601" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377807" "00376602" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377808" "00376603" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377809" "00376604" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377810" "00376605" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377811" "00376606" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377812" "00376607" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377813" "00376608" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377814" "00376609" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377815" "00376610" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377816" "00376611" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377817" "00376612" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377818" "00376613" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377819" "00376614" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377820" "00376615" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377821" "00376616" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377822" "00376617" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377823" "00376618" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377824" "00376619" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377825" "00376620" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377826" "00376621" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377827" "00376622" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377828" "00376623" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377829" "00376624" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377830" "00376625" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377831" "00376626" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377832" "00376627" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377833" "00376628" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377834" "00376629" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377835" "00376630" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377836" "00376631" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377837" "00376632" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377838" "00376633" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377839" "00376634" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377840" "00376635" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377841" "00376636" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377862" "00376657" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377863" "00376658" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000378203" "00376998" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "?" "DNA" "" "" "0000378204" "00376999" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "?" "DNA" "" "" "0000378205" "00377000" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "?" "DNA" "" "" "0000378206" "00377001" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "?" "DNA" "" "" "0000378208" "00377003" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "?" "DNA" "" "" "0000378209" "00377004" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "?" "DNA" "" "" "0000378210" "00377005" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "?" "DNA" "" "" "0000378211" "00377006" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "?" "DNA" "" "" "0000378407" "00377202" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000379156" "00377952" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000380685" "00379485" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380686" "00379486" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380687" "00379487" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380688" "00379488" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380797" "00379598" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000380952" "00379751" "1" "03508" "03508" "2021-08-09 04:19:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000382483" "00381268" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382484" "00381269" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382485" "00381270" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382486" "00381271" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382487" "00381272" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382488" "00381273" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382489" "00381274" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382490" "00381275" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382491" "00381276" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382492" "00381277" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382493" "00381278" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382494" "00381279" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382495" "00381280" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382496" "00381281" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382497" "00381282" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382498" "00381283" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382499" "00381284" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382500" "00381285" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382501" "00381286" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382502" "00381287" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382503" "00381288" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382504" "00381289" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382505" "00381290" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382506" "00381291" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382507" "00381292" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382508" "00381293" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000383169" "00381953" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000383354" "00382138" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383356" "00382140" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383454" "00382240" "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" "0000383455" "00382241" "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" "0000383456" "00382242" "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" "0000383457" "00382243" "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" "0000383458" "00382244" "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" "0000383716" "00382502" "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" "0000383717" "00382503" "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" "0000383718" "00382504" "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" "0000383751" "00382537" "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" "0000384016" "00382800" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" "" "0000384736" "00383511" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper" "0000385517" "00384292" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385688" "00384463" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385722" "00384497" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385862" "00384634" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000386249" "00385020" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000387106" "00385878" "1" "00000" "03840" "2021-10-18 10:31:04" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387107" "00385879" "1" "00000" "03840" "2021-10-18 10:31:04" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387432" "00386203" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387458" "00386229" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387506" "00386277" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387510" "00386281" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387915" "00386687" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387952" "00386724" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388866" "00387640" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000390271" "00389028" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390272" "00389029" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390312" "00389069" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390348" "00389105" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390349" "00389106" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390370" "00389127" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390371" "00389128" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390372" "00389129" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390377" "00389134" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391425" "00390184" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391426" "00390185" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391427" "00390186" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391428" "00390187" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391429" "00390188" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391430" "00390189" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391431" "00390190" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391432" "00390191" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391433" "00390192" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391434" "00390193" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391435" "00390194" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391436" "00390195" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391437" "00390196" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392386" "00391144" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392773" "00391531" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392774" "00391532" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392775" "00391533" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392776" "00391534" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392777" "00391535" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392778" "00391536" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000393855" "00392608" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393888" "00392641" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000395084" "00393836" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395613" "00394366" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395614" "00394367" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395615" "00394368" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000397121" "00395882" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397745" "00396502" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000402439" "00401195" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000404478" "00403237" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR" "DNA;RNA" "blood;lymphoblastoid" "" "0000404479" "00403238" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR" "DNA;RNA" "blood;lymphoblastoid" "" "0000404480" "00403239" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ" "DNA" "?" "" "0000404481" "00403240" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ" "DNA" "?" "" "0000404482" "00403241" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ" "DNA" "?" "" "0000404483" "00403242" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "?" "" "0000404484" "00403243" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ" "DNA" "blood" "" "0000404485" "00403244" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404486" "00403245" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000404487" "00403246" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000404488" "00403247" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000404489" "00403248" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000404490" "00403249" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404491" "00403250" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404492" "00403251" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404493" "00403252" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404494" "00403253" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404495" "00403254" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404496" "00403255" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404497" "00403256" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404498" "00403257" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404499" "00403258" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;RT-PCR;Northern;FISH;SSCA" "DNA;RNA" "" "" "0000404500" "00403259" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ" "DNA" "peripheral leukocytes" "" "0000404501" "00403260" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG" "DNA" "" "" "0000404502" "00403261" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG" "DNA" "" "" "0000404503" "00403262" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000404504" "00403263" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000404505" "00403264" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ;microsat" "DNA" "" "" "0000404506" "00403265" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ;microsat" "DNA" "" "" "0000404507" "00403266" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ;microsat" "DNA" "" "" "0000404508" "00403267" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ;microsat" "DNA" "" "" "0000404509" "00403268" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ;microsat" "DNA" "" "" "0000404510" "00403269" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ;microsat" "DNA" "" "" "0000404511" "00403270" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ;microsat" "DNA" "" "" "0000404512" "00403271" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ;microsat" "DNA" "" "" "0000404513" "00403272" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ;microsat" "DNA" "" "" "0000404514" "00403273" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;PCR;PAGE" "DNA;RNA" "" "" "0000404515" "00403274" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;PCR;PAGE" "DNA;RNA" "" "" "0000404516" "00403275" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;PCR;PAGE" "DNA;RNA" "" "" "0000404517" "00403276" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;PCR;PAGE" "DNA;RNA" "" "" "0000404518" "00403277" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;PCR;PAGE" "DNA;RNA" "" "" "0000404519" "00403278" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ;PCR;PAGE" "DNA;RNA" "" "" "0000404520" "00403279" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ" "DNA" "blood" "" "0000404521" "00403280" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ" "DNA" "blood" "" "0000404522" "00403281" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ" "DNA" "blood" "" "0000404523" "00403282" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ" "DNA" "blood" "" "0000404524" "00403283" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ" "DNA" "blood" "" "0000405368" "00404130" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405369" "00404131" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405370" "00404132" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405371" "00404133" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405372" "00404134" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405373" "00404135" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405374" "00404136" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405375" "00404137" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405376" "00404138" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405377" "00404139" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405378" "00404140" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405379" "00404141" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405380" "00404142" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405381" "00404143" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405382" "00404144" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405383" "00404145" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ" "DNA" "blood" "" "0000405384" "00404146" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405385" "00404147" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405386" "00404148" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405387" "00404149" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405388" "00404150" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405389" "00404151" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405390" "00404152" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405391" "00404153" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405392" "00404154" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405393" "00404155" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405394" "00404156" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405395" "00404157" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405396" "00404158" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405397" "00404159" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405398" "00404160" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405399" "00404161" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405400" "00404162" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405401" "00404163" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405402" "00404164" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405403" "00404165" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;PCR" "DNA" "blood" "" "0000405404" "00404166" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405405" "00404167" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405406" "00404168" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405407" "00404169" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405408" "00404170" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405409" "00404171" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405410" "00404172" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405411" "00404173" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405412" "00404174" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405413" "00404175" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405414" "00404176" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405415" "00404177" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405416" "00404178" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405417" "00404179" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405418" "00404180" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405419" "00404181" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405420" "00404182" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405421" "00404183" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405422" "00404184" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405423" "00404185" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405424" "00404186" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405425" "00404187" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405426" "00404188" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405427" "00404189" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405428" "00404190" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000405429" "00404191" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000412631" "00411362" "1" "01164" "01164" "2022-06-13 07:37:11" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000419124" "00417829" "1" "04385" "04385" "2022-09-24 15:48:02" "" "" "SEQ-NG" "DNA" "" "" "0000420289" "00418991" "1" "00006" "00006" "2022-10-14 12:15:29" "00006" "2022-10-14 12:17:27" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000420998" "00419693" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421773" "00420464" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000428238" "00426918" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000445726" "00444228" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445727" "00444229" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445728" "00444230" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445729" "00444231" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445730" "00444232" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445731" "00444233" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445732" "00444234" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445733" "00444235" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445734" "00444236" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445735" "00444237" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445736" "00444238" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445737" "00444239" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445738" "00444240" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445826" "00444252" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445827" "00444253" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000448542" "00446965" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448704" "00447127" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448705" "00447128" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448710" "00447133" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448711" "00447134" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448976" "00447399" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449102" "00447525" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449119" "00447542" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449125" "00447548" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449128" "00447551" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449129" "00447552" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449197" "00447620" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449304" "00447727" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452322" "00450724" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452323" "00450725" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452324" "00450726" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452325" "00450727" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452326" "00450728" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452327" "00450729" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452454" "00450856" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## 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"0000405415" "CACNA1F" "0000405416" "CACNA1F" "0000405417" "CACNA1F" "0000405418" "CACNA1F" "0000405419" "CACNA1F" "0000405420" "CACNA1F" "0000405421" "CACNA1F" "0000405422" "CACNA1F" "0000405423" "CACNA1F" "0000405424" "CACNA1F" "0000405425" "CACNA1F" "0000405426" "CACNA1F" "0000405427" "CACNA1F" "0000405428" "CACNA1F" "0000405429" "CACNA1F" "0000412631" "CACNA1F" "0000419124" "CACNA1F" "0000421773" "CACNA1F" "0000428238" "CACNA1F" ## 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 = 889 "{{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}}" "0000001930" "20" "30" "X" "49074065" "49074065" "dup" "0" "00037" "CACNA1F_000016" "g.49074065dup" "" "" "" "3122+153_3122+154insC" "" "Germline" "" "" "0" "" "" "g.49217600dup" "" "likely benign" "" "0000006851" "20" "50" "X" "49063950" "49063950" "subst" "0" "00037" "CACNA1F_000030" "g.49063950A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49207489=" "" "VUS" "" "0000006852" "20" "50" "X" "49069366" "49069366" "subst" "0" "00037" "CACNA1F_000021" "g.49069366C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49212906=" "" "VUS" "" "0000006853" "20" "50" "X" "49070813" "49070813" "subst" "0" "00037" "CACNA1F_000024" "g.49070813G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49214353=" "" "VUS" "" "0000006854" "20" "50" "X" "49071964" "49071964" "subst" "0.410528" "00037" "CACNA1F_000027" "g.49071964A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49215504=" "" "VUS" "" "0000006855" "20" "30" "X" "49074801" "49074801" "subst" "0" "00037" "CACNA1F_000019" "g.49074801G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49218342=" "" "likely benign" "" "0000006856" "20" "50" "X" "49077583" "49077583" "subst" "0.364665" "00037" "CACNA1F_000015" "g.49077583G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49221124=" "" "VUS" "" "0000006857" "20" "50" "X" "49081291" "49081291" "subst" "0.366298" "00037" "CACNA1F_000018" "g.49081291G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49224829=" "" "VUS" "" "0000006858" "20" "30" "X" "49084492" "49084492" "subst" "0.343817" "00037" "CACNA1F_000013" "g.49084492C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49228030=" "" "likely benign" "" "0000006859" "20" "30" "X" "49087487" "49087487" "subst" "0.365387" "00037" "CACNA1F_000014" "g.49087487G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49231025=" "" "likely benign" "" "0000006860" "20" "30" "X" "49087565" "49087565" "subst" "0" "00037" "CACNA1F_000017" "g.49087565G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49231103G>A" "" "likely benign" "" "0000008921" "20" "50" "X" "49069366" "49069366" "subst" "0" "00037" "CACNA1F_000021" "g.49069366C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49212906=" "" "VUS" "" "0000008922" "20" "50" "X" "49070813" "49070813" "subst" "0" "00037" "CACNA1F_000024" "g.49070813G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49214353=" "" "VUS" "" "0000008923" "20" "50" "X" "49071964" "49071964" "subst" "0.410528" "00037" "CACNA1F_000027" "g.49071964A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49215504=" "" "VUS" "" "0000008924" "20" "30" "X" "49074065" "49074065" "dup" "0" "00037" "CACNA1F_000016" "g.49074065dup" "" "" "" "3122+153_3122+154insC" "" "Germline" "" "" "0" "" "" "g.49217600dup" "" "likely benign" "" "0000008925" "20" "30" "X" "49074801" "49074801" "subst" "0" "00037" "CACNA1F_000019" "g.49074801G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49218342=" "" "likely benign" "" "0000008926" "20" "50" "X" "49077583" "49077583" "subst" "0.364665" "00037" "CACNA1F_000015" "g.49077583G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49221124=" "" "VUS" "" "0000008927" "20" "50" "X" "49081291" "49081291" "subst" "0.366298" "00037" "CACNA1F_000018" "g.49081291G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49224829=" "" "VUS" "" "0000008928" "20" "30" "X" "49084492" "49084492" "subst" "0.343817" "00037" "CACNA1F_000013" "g.49084492C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49228030=" "" "likely benign" "" "0000008929" "20" "30" "X" "49087487" "49087487" "subst" "0.365387" "00037" "CACNA1F_000014" "g.49087487G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49231025=" "" "likely benign" "" "0000008930" "20" "30" "X" "49087565" "49087565" "subst" "0" "00037" "CACNA1F_000017" "g.49087565G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49231103G>A" "" "likely benign" "" "0000010961" "20" "50" "X" "49074065" "49074065" "dup" "0" "00037" "CACNA1F_000031" "g.49074065dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49217600dup" "" "VUS" "" "0000059594" "1" "50" "X" "49082499" "49082499" "subst" "0.0175728" "00006" "CACNA1F_000001" "g.49082499C>T" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.49226037C>T" "" "VUS" "" "0000059595" "1" "10" "X" "49082499" "49082499" "subst" "0.0175728" "00229" "CACNA1F_000001" "g.49082499C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.49226037C>T" "" "benign" "" "0000059596" "1" "10" "X" "49082499" "49082499" "subst" "0.0175728" "00229" "CACNA1F_000001" "g.49082499C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.49226037C>T" "" "benign" "" "0000059597" "2" "10" "X" "49082499" "49082499" "subst" "0.0175728" "00229" "CACNA1F_000001" "g.49082499C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.49226037C>T" "" "benign" "" "0000059598" "1" "10" "X" "49082499" "49082499" "subst" "0.0175728" "00229" "CACNA1F_000001" "g.49082499C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.49226037C>T" "" "benign" "" "0000059599" "1" "10" "X" "49082499" "49082499" "subst" "0.0175728" "00229" "CACNA1F_000001" "g.49082499C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.49226037C>T" "" "benign" "" "0000059600" "1" "10" "X" "49081291" "49081291" "subst" "0.366298" "00006" "CACNA1F_000002" "g.49081291G>A" "55/208 patients" "{PMID:Tarpey 2009:19377476}" "" "G614G" "recurrent change" "Germline" "" "" "0" "" "" "g.49224829=" "" "benign" "" "0000059601" "1" "50" "X" "49081230" "49081230" "subst" "0.00211607" "00006" "CACNA1F_000003" "g.49081230C>T" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.49224768C>T" "" "VUS" "" "0000059602" "1" "70" "X" "49081230" "49081230" "subst" "0.00211607" "00229" "CACNA1F_000003" "g.49081230C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "yes" "" "0" "" "" "g.49224768C>T" "" "likely pathogenic" "" "0000059603" "1" "50" "X" "49076934" "49076934" "subst" "0" "00006" "CACNA1F_000004" "g.49076934G>A" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.49220475G>A" "" "VUS" "" "0000059604" "1" "10" "X" "49071964" "49071964" "subst" "0.410528" "00006" "CACNA1F_000005" "g.49071964A>G" "53/208 patients" "{PMID:Tarpey 2009:19377476}" "" "H1103H" "recurrent change" "Germline" "" "" "0" "" "" "g.49215504=" "" "benign" "" "0000059605" "1" "50" "X" "49069434" "49069434" "subst" "3.0159E-5" "00006" "CACNA1F_000006" "g.49069434C>T" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "E1282E" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.49212974C>T" "" "VUS" "" "0000059606" "1" "30" "X" "49061742" "49061742" "subst" "0.0984974" "00006" "CACNA1F_000007" "g.49061742C>T" "5/208 patients" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent change" "Germline" "" "" "0" "" "" "g.49205282C>T" "" "likely benign" "" "0000059607" "1" "50" "X" "49061669" "49061669" "subst" "0.00525319" "00006" "CACNA1F_000008" "g.49061669G>A" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "D1954D" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.49205209G>A" "" "VUS" "" "0000059608" "1" "70" "X" "49082509" "49082509" "subst" "5.00561E-5" "00229" "CACNA1F_000009" "g.49082509G>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion, disease-related variants in other gene; non-affected carrier father, not segregating with disease in other family" "Germline" "" "" "0" "" "" "g.49226047G>C" "" "likely pathogenic" "" "0000059609" "1" "70" "X" "49082509" "49082509" "subst" "5.00561E-5" "00229" "CACNA1F_000010" "g.49082509G>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "no" "" "0" "" "" "g.49226047G>C" "" "likely pathogenic" "" "0000059610" "1" "70" "X" "49088195" "49088195" "subst" "0" "00229" "CACNA1F_000011" "g.49088195A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "yes" "" "0" "" "" "g.49231733A>G" "" "likely pathogenic" "" "0000059611" "1" "70" "X" "49086688" "49086688" "subst" "0.000510502" "00229" "CACNA1F_000012" "g.49086688C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "no" "" "0" "" "" "g.49230226C>T" "" "likely pathogenic" "" "0000067265" "21" "10" "X" "49083534" "49083534" "subst" "0" "01158" "CACNA1F_000032" "g.49083534G>A" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "present in unaffected maternal grandfather" "Germline" "no" "" "0" "" "" "g.49227072G>A" "" "benign" "" "0000145987" "21" "90" "X" "49087746" "49087746" "subst" "0" "01823" "CACNA1F_000033" "g.49087746A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.49231284A>C" "" "pathogenic (recessive)" "" "0000145989" "21" "90" "X" "49074970" "49074970" "subst" "0" "01823" "CACNA1F_000034" "g.49074970G>A" "" "{PMID:Thomas 2017:28378818}, {DOI:Thomas 2017:10.1038/ejhg.2017.44}" "" "" "" "Germline" "" "" "0" "" "" "g.49218511G>A" "" "pathogenic (recessive)" "" "0000247753" "0" "30" "X" "49083155" "49083155" "subst" "0.000350517" "02330" "CACNA1F_000070" "g.49083155A>G" "" "" "" "CACNA1F(NM_001256789.3):c.1286T>C (p.(Leu429Pro)), CACNA1F(NM_005183.4):c.1319T>C (p.L440P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49226693A>G" "" "likely benign" "" "0000248738" "0" "10" "X" "49071964" "49071964" "subst" "0.410528" "02325" "CACNA1F_000005" "g.49071964A>G" "" "" "" "CACNA1F(NM_005183.4):c.3309T>C (p.H1103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49215504=" "" "benign" "" "0000254690" "0" "30" "X" "49082446" "49082446" "subst" "0" "01943" "CACNA1F_000065" "g.49082446A>G" "" "" "" "CACNA1F(NM_005183.3):c.1609T>C (p.L537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49225984A>G" "" "likely benign" "" "0000255960" "0" "30" "X" "49082436" "49082436" "subst" "3.45979E-5" "01943" "CACNA1F_000064" "g.49082436A>T" "" "" "" "CACNA1F(NM_005183.3):c.1619T>A (p.F540Y), CACNA1F(NM_005183.4):c.1619T>A (p.F540Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49225974A>T" "" "likely benign" "" "0000256038" "0" "50" "X" "49086738" "49086738" "subst" "7.13127E-5" "01943" "CACNA1F_000078" "g.49086738A>G" "" "" "" "CACNA1F(NM_005183.3):c.761T>C (p.I254T), CACNA1F(NM_005183.4):c.761T>C (p.I254T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49230276A>G" "" "VUS" "" "0000264083" "0" "90" "X" "49082870" "49082870" "subst" "0" "02330" "CACNA1F_000068" "g.49082870C>T" "" "" "" "CACNA1F(NM_005183.4):c.1496+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49226408C>T" "" "pathogenic" "" "0000264084" "0" "10" "X" "49081230" "49081230" "subst" "0.00211607" "02330" "CACNA1F_000003" "g.49081230C>T" "" "" "" "CACNA1F(NM_001256789.1):c.1870G>A (p.(Val624Ile)), CACNA1F(NM_005183.3):c.1903G>A (p.V635I), CACNA1F(NM_005183.4):c.1903G>A (p.V635I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49224768C>T" "" "benign" "" "0000264085" "0" "10" "X" "49079179" "49079179" "subst" "0.00152204" "02330" "CACNA1F_000061" "g.49079179T>G" "" "" "" "CACNA1F(NM_001256789.1):c.2204A>C (p.(Asn735Thr)), CACNA1F(NM_005183.3):c.2237A>C (p.N746T), CACNA1F(NM_005183.4):c.2237A>C (p.N746T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49222720T>G" "" "benign" "" "0000264087" "0" "10" "X" "49075326" "49075326" "subst" "0.0023148" "02330" "CACNA1F_000057" "g.49075326G>A" "" "" "" "CACNA1F(NM_005183.4):c.2766+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49218867G>A" "" "benign" "" "0000264088" "0" "50" "X" "49074994" "49074994" "subst" "0" "02330" "CACNA1F_000056" "g.49074994C>T" "" "" "" "CACNA1F(NM_005183.3):c.2881G>A (p.A961T), CACNA1F(NM_005183.4):c.2881G>A (p.A961T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49218535C>T" "" "VUS" "" "0000264089" "0" "10" "X" "49071782" "49071782" "subst" "2.27701E-5" "02330" "CACNA1F_000052" "g.49071782G>T" "" "" "" "CACNA1F(NM_005183.4):c.3471+20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49215322G>T" "" "benign" "" "0000264090" "0" "10" "X" "49071722" "49071722" "subst" "0.00277013" "02330" "CACNA1F_000051" "g.49071722G>A" "" "" "" "CACNA1F(NM_005183.4):c.3472-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49215262G>A" "" "benign" "" "0000264091" "0" "50" "X" "49071569" "49071569" "subst" "0" "02330" "CACNA1F_000050" "g.49071569T>C" "" "" "" "CACNA1F(NM_005183.4):c.3607A>G (p.N1203D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49215109T>C" "" "VUS" "" "0000264092" "0" "10" "X" "49065050" "49065050" "subst" "0.00182187" "02330" "CACNA1F_000036" "g.49065050C>T" "" "" "" "CACNA1F(NM_001256789.1):c.5048G>A (p.(Gly1683Glu)), CACNA1F(NM_005183.3):c.5081G>A (p.G1694E), CACNA1F(NM_005183.4):c.5081G>A (p.G1694E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49208590C>T" "" "benign" "" "0000264093" "0" "50" "X" "49063004" "49063004" "subst" "5.59838E-6" "02330" "CACNA1F_000035" "g.49063004G>A" "" "" "" "CACNA1F(NM_005183.4):c.5473C>T (p.R1825C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49206543G>A" "" "VUS" "" "0000264094" "0" "30" "X" "49086688" "49086688" "subst" "0.000510502" "02330" "CACNA1F_000012" "g.49086688C>T" "" "" "" "CACNA1F(NM_005183.3):c.811G>A (p.G271R), CACNA1F(NM_005183.4):c.811G>A (p.G271R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49230226C>T" "" "likely benign" "" "0000266437" "0" "10" "X" "49084492" "49084492" "subst" "0.343817" "02325" "CACNA1F_000013" "g.49084492C>T" "" "" "" "CACNA1F(NM_005183.4):c.1118+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49228030=" "" "benign" "" "0000266438" "0" "10" "X" "49081291" "49081291" "subst" "0.366298" "02325" "CACNA1F_000002" "g.49081291G>A" "" "" "" "CACNA1F(NM_005183.4):c.1842C>T (p.G614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49224829=" "" "benign" "" "0000272487" "0" "30" "X" "49084707" "49084707" "subst" "5.63399E-5" "01943" "CACNA1F_000074" "g.49084707C>T" "" "" "" "CACNA1F(NM_005183.3):c.1014+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49228245C>T" "" "likely benign" "" "0000272488" "0" "30" "X" "49088292" "49088292" "subst" "0.0020144" "01943" "CACNA1F_000083" "g.49088292C>T" "" "" "" "CACNA1F(NM_001256789.3):c.123G>A (p.(Gly41=)), CACNA1F(NM_005183.3):c.123G>A (p.G41=), CACNA1F(NM_005183.4):c.123G>A (p.G41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231830C>T" "" "likely benign" "" "0000272489" "0" "30" "X" "49083424" "49083424" "subst" "1.12309E-5" "01943" "CACNA1F_000071" "g.49083424C>A" "" "" "" "CACNA1F(NM_005183.3):c.1284G>T (p.M428I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49226962C>A" "" "likely benign" "" "0000272490" "0" "30" "X" "49088273" "49088273" "subst" "9.62354E-5" "01943" "CACNA1F_000082" "g.49088273G>T" "" "" "" "CACNA1F(NM_005183.3):c.142C>A (p.P48T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231811G>T" "" "likely benign" "" "0000272491" "0" "50" "X" "49082490" "49082490" "subst" "0" "01943" "CACNA1F_000067" "g.49082490C>T" "" "" "" "CACNA1F(NM_005183.3):c.1565G>A (p.C522Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49226028C>T" "" "VUS" "" "0000272492" "0" "30" "X" "49081230" "49081230" "subst" "0.00211607" "01943" "CACNA1F_000003" "g.49081230C>T" "" "" "" "CACNA1F(NM_001256789.1):c.1870G>A (p.(Val624Ile)), CACNA1F(NM_005183.3):c.1903G>A (p.V635I), CACNA1F(NM_005183.4):c.1903G>A (p.V635I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49224768C>T" "" "likely benign" "" "0000272493" "0" "50" "X" "49079540" "49079540" "subst" "0" "01943" "CACNA1F_000063" "g.49079540T>C" "" "" "" "CACNA1F(NM_005183.3):c.1966A>G (p.I656V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49223081T>C" "" "VUS" "" "0000272494" "0" "10" "X" "49079494" "49079494" "subst" "0.00170959" "01943" "CACNA1F_000062" "g.49079494G>C" "" "" "" "CACNA1F(NM_005183.3):c.2012C>G (p.S671C), CACNA1F(NM_005183.4):c.2012C>G (p.S671C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49223035G>C" "" "benign" "" "0000272495" "0" "50" "X" "49088206" "49088206" "subst" "2.81177E-5" "01943" "CACNA1F_000080" "g.49088206C>T" "" "" "" "CACNA1F(NM_001256789.1):c.209G>A (p.(Arg70Gln)), CACNA1F(NM_005183.3):c.209G>A (p.R70Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231744C>T" "" "VUS" "" "0000272496" "0" "50" "X" "49074994" "49074994" "subst" "0" "01943" "CACNA1F_000056" "g.49074994C>T" "" "" "" "CACNA1F(NM_005183.3):c.2881G>A (p.A961T), CACNA1F(NM_005183.4):c.2881G>A (p.A961T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49218535C>T" "" "VUS" "" "0000272497" "0" "50" "X" "49074960" "49074960" "subst" "0" "01943" "CACNA1F_000055" "g.49074960C>T" "" "" "" "CACNA1F(NM_005183.3):c.2915G>A (p.R972Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49218501C>T" "" "VUS" "" "0000272498" "0" "30" "X" "49069181" "49069181" "subst" "1.14734E-5" "01943" "CACNA1F_000049" "g.49069181G>A" "" "" "" "CACNA1F(NM_005183.3):c.3921C>T (p.L1307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49212721G>A" "" "likely benign" "" "0000272499" "0" "50" "X" "49069174" "49069174" "subst" "1.71905E-5" "01943" "CACNA1F_000048" "g.49069174C>T" "" "" "" "CACNA1F(NM_005183.3):c.3928G>A (p.G1310S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49212714C>T" "" "VUS" "" "0000272500" "0" "50" "X" "49069162" "49069162" "subst" "2.29159E-5" "01943" "CACNA1F_000047" "g.49069162G>A" "" "" "" "CACNA1F(NM_005183.3):c.3940C>T (p.R1314C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49212702G>A" "" "VUS" "" "0000272501" "0" "30" "X" "49067862" "49067862" "subst" "0.000386085" "01943" "CACNA1F_000045" "g.49067862C>T" "" "" "" "CACNA1F(NM_005183.3):c.4213G>A (p.G1405S), CACNA1F(NM_005183.4):c.4213G>A (p.G1405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49211402C>T" "" "likely benign" "" "0000272502" "0" "50" "X" "49066825" "49066825" "subst" "0" "01943" "CACNA1F_000043" "g.49066825C>A" "" "" "" "CACNA1F(NM_005183.3):c.4557G>T (p.G1519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49210365C>A" "" "VUS" "" "0000272503" "0" "30" "X" "49066792" "49066792" "subst" "1.11888E-5" "01943" "CACNA1F_000042" "g.49066792C>G" "" "" "" "CACNA1F(NM_005183.3):c.4590G>C (p.L1530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49210332C>G" "" "likely benign" "" "0000272504" "0" "50" "X" "49065105" "49065105" "subst" "1.12242E-5" "01943" "CACNA1F_000038" "g.49065105C>T" "" "" "" "CACNA1F(NM_005183.3):c.5026G>A (p.G1676R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49208645C>T" "" "VUS" "" "0000272505" "0" "90" "X" "49086730" "49086730" "subst" "0" "01943" "CACNA1F_000077" "g.49086730C>A" "" "" "" "CACNA1F(NM_005183.3):c.769G>T (p.E257*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49230268C>A" "" "pathogenic" "" "0000272506" "0" "50" "X" "49084912" "49084912" "subst" "0" "01943" "CACNA1F_000076" "g.49084912G>T" "" "" "" "CACNA1F(NM_005183.3):c.818-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49228450G>T" "" "VUS" "" "0000334077" "0" "50" "X" "49065050" "49065050" "subst" "0.00182187" "01804" "CACNA1F_000036" "g.49065050C>T" "" "" "" "CACNA1F(NM_001256789.1):c.5048G>A (p.(Gly1683Glu)), CACNA1F(NM_005183.3):c.5081G>A (p.G1694E), CACNA1F(NM_005183.4):c.5081G>A (p.G1694E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49208590C>T" "" "VUS" "" "0000334078" "0" "30" "X" "49065081" "49065081" "subst" "0.000179482" "01804" "CACNA1F_000037" "g.49065081C>G" "" "" "" "CACNA1F(NM_001256789.3):c.5017G>C (p.(Gly1673Arg)), CACNA1F(NM_005183.3):c.5050G>C (p.G1684R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49208621C>G" "" "likely benign" "" "0000334079" "0" "50" "X" "49065113" "49065113" "subst" "6.17544E-5" "01804" "CACNA1F_000039" "g.49065113C>T" "" "" "" "CACNA1F(NM_001256789.1):c.4985G>A (p.(Arg1662Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49208653C>T" "" "VUS" "" "0000334082" "0" "50" "X" "49067105" "49067105" "subst" "2.28645E-5" "01804" "CACNA1F_000044" "g.49067105C>T" "" "" "" "CACNA1F(NM_001256789.1):c.4430G>A (p.(Arg1477His)), CACNA1F(NM_005183.3):c.4463G>A (p.R1488H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49210645C>T" "" "VUS" "" "0000334084" "0" "30" "X" "49071970" "49071970" "subst" "0.000155462" "01804" "CACNA1F_000053" "g.49071970C>G" "" "" "" "CACNA1F(NM_001256789.1):c.3270G>C (p.(Glu1090Asp)), CACNA1F(NM_005183.4):c.3303G>C (p.E1101D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49215510C>G" "" "likely benign" "" "0000334085" "0" "30" "X" "49072842" "49072842" "subst" "7.36694E-5" "01804" "CACNA1F_000054" "g.49072842G>A" "" "" "" "CACNA1F(NM_001256789.1):c.3236C>T (p.(Ala1079Val)), CACNA1F(NM_005183.3):c.3269C>T (p.A1090V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49216382G>A" "" "likely benign" "" "0000334088" "0" "50" "X" "49079179" "49079179" "subst" "0.00152204" "01804" "CACNA1F_000061" "g.49079179T>G" "" "" "" "CACNA1F(NM_001256789.1):c.2204A>C (p.(Asn735Thr)), CACNA1F(NM_005183.3):c.2237A>C (p.N746T), CACNA1F(NM_005183.4):c.2237A>C (p.N746T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49222720T>G" "" "VUS" "" "0000334090" "0" "50" "X" "49082476" "49082476" "subst" "0.000172895" "01804" "CACNA1F_000066" "g.49082476T>C" "" "" "" "CACNA1F(NM_001256789.1):c.1546A>G (p.(Lys516Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49226014T>C" "" "VUS" "" "0000334091" "0" "50" "X" "49082906" "49082908" "del" "0" "01804" "CACNA1F_000069" "g.49082906_49082908del" "" "" "" "CACNA1F(NM_001256789.1):c.1433_1435del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49226444_49226446del" "" "VUS" "" "0000334092" "0" "50" "X" "49083474" "49083474" "subst" "1.6917E-5" "01804" "CACNA1F_000072" "g.49083474C>T" "" "" "" "CACNA1F(NM_001256789.1):c.1234G>A (p.(Glu412Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49227012C>T" "" "VUS" "" "0000334094" "0" "50" "X" "49084823" "49084823" "subst" "0.000114705" "01804" "CACNA1F_000075" "g.49084823G>A" "" "" "" "CACNA1F(NM_001256789.1):c.904C>T (p.(Arg302Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49228361G>A" "" "VUS" "" "0000334095" "0" "50" "X" "49088142" "49088142" "subst" "0.000191037" "01804" "CACNA1F_000079" "g.49088142C>G" "" "" "" "CACNA1F(NM_001256789.1):c.273G>C (p.(Trp91Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231680C>G" "" "VUS" "" "0000338983" "0" "90" "X" "49075340" "49075340" "subst" "0" "02327" "CACNA1F_000086" "g.49075340C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49218881C>A" "" "pathogenic" "" "0000340198" "0" "10" "X" "49071964" "49071964" "subst" "0.410528" "02327" "CACNA1F_000005" "g.49071964A>G" "" "" "" "CACNA1F(NM_005183.4):c.3309T>C (p.H1103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49215504=" "" "benign" "" "0000342162" "0" "10" "X" "49061742" "49061742" "subst" "0.0984974" "02327" "CACNA1F_000007" "g.49061742C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49205282C>T" "" "benign" "" "0000342581" "0" "50" "X" "49084823" "49084823" "subst" "0.000114705" "02327" "CACNA1F_000075" "g.49084823G>A" "" "" "" "CACNA1F(NM_001256789.1):c.904C>T (p.(Arg302Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49228361G>A" "" "VUS" "" "0000343460" "0" "90" "X" "49075803" "49075803" "subst" "0" "02327" "CACNA1F_000087" "g.49075803G>A" "" "" "" "CACNA1F(NM_005183.4):c.2683C>T (p.R895*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49219344G>A" "" "pathogenic" "" "0000344273" "0" "50" "X" "49067840" "49067840" "subst" "0" "02327" "CACNA1F_000085" "g.49067840C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49211380C>T" "" "VUS" "" "0000348206" "0" "10" "X" "49088374" "49088374" "subst" "0.0145515" "02327" "CACNA1F_000091" "g.49088374G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231912G>A" "" "benign" "" "0000350755" "0" "50" "X" "49083069" "49083069" "subst" "0" "02327" "CACNA1F_000088" "g.49083069C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49226607C>A" "" "VUS" "" "0000500548" "21" "90" "X" "49082866" "49082866" "subst" "0" "00228" "CACNA1F_000095" "g.49082866C>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "expression cloning minigene construct confirms effect on splicing" "Germline" "yes" "" "0" "" "" "g.49226404C>G" "" "pathogenic (recessive)" "" "0000500549" "21" "90" "X" "49067561" "49067561" "subst" "0" "00228" "CACNA1F_000092" "g.49067561C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "expression cloning minigene construct confirms effect on splicing" "Germline" "yes" "" "0" "" "" "g.49211101C>T" "" "pathogenic (recessive)" "" "0000500550" "21" "90" "X" "49087087" "49087087" "subst" "0" "00228" "CACNA1F_000097" "g.49087087C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "expression cloning minigene construct confirms effect on splicing" "Germline" "yes" "" "0" "" "" "g.49230625C>T" "" "pathogenic (recessive)" "" "0000500551" "0" "90" "X" "49087784" "49087784" "subst" "0" "00228" "CACNA1F_000098" "g.49087784G>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "expression cloning minigene construct confirms effect on splicing" "Germline" "" "" "0" "" "" "g.49231322G>T" "" "pathogenic (recessive)" "" "0000500552" "0" "90" "X" "49078976" "49078976" "subst" "0" "00228" "CACNA1F_000093" "g.49078976C>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "expression cloning minigene construct confirms effect on splicing" "Germline" "" "" "0" "" "" "g.49222517C>A" "" "pathogenic (recessive)" "" "0000500553" "0" "90" "X" "49086947" "49086947" "subst" "0" "00228" "CACNA1F_000096" "g.49086947G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "expression cloning minigene construct confirms effect on splicing" "Germline" "" "" "0" "" "" "g.49230485G>A" "" "pathogenic (recessive)" "" "0000500554" "0" "90" "X" "49081414" "49081414" "subst" "0" "00228" "CACNA1F_000094" "g.49081414C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "expression cloning minigene construct confirms effect on splicing" "Germline" "" "" "0" "" "" "g.49224952C>T" "" "pathogenic (recessive)" "" "0000576342" "0" "50" "X" "49061736" "49061736" "subst" "2.82831E-5" "01943" "CACNA1F_000099" "g.49061736G>A" "" "" "" "CACNA1F(NM_005183.3):c.5795C>T (p.T1932M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49205276G>A" "" "VUS" "" "0000576343" "0" "10" "X" "49061798" "49061798" "subst" "0.000729689" "02330" "CACNA1F_000100" "g.49061798A>G" "" "" "" "CACNA1F(NM_005183.4):c.5733T>C (p.F1911=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49205338A>G" "" "benign" "" "0000576344" "0" "90" "X" "49062998" "49062998" "subst" "5.60083E-6" "02327" "CACNA1F_000101" "g.49062998G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49206537G>A" "" "pathogenic" "" "0000576345" "0" "30" "X" "49063049" "49063049" "subst" "0.000134336" "01943" "CACNA1F_000102" "g.49063049G>A" "" "" "" "CACNA1F(NM_005183.3):c.5428C>T (p.R1810C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49206588G>A" "" "likely benign" "" "0000576346" "0" "50" "X" "49063081" "49063081" "subst" "1.68255E-5" "01943" "CACNA1F_000103" "g.49063081C>T" "" "" "" "CACNA1F(NM_005183.3):c.5396G>A (p.R1799Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49206620C>T" "" "VUS" "" "0000576347" "0" "50" "X" "49063219" "49063219" "subst" "0" "01943" "CACNA1F_000104" "g.49063219G>A" "" "" "" "CACNA1F(NM_005183.3):c.5362C>T (p.R1788C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49206758G>A" "" "VUS" "" "0000576348" "0" "50" "X" "49063467" "49063467" "subst" "0" "02330" "CACNA1F_000105" "g.49063467G>C" "" "" "" "CACNA1F(NM_005183.4):c.5263C>G (p.R1755G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49207006G>C" "" "VUS" "" "0000576349" "0" "50" "X" "49065041" "49065043" "del" "0" "02330" "CACNA1F_000106" "g.49065041_49065043del" "" "" "" "CACNA1F(NM_005183.4):c.5094_5096delTGA (p.D1699del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49208581_49208583del" "" "VUS" "" "0000576350" "0" "10" "X" "49065050" "49065050" "subst" "0.00182187" "01943" "CACNA1F_000036" "g.49065050C>T" "" "" "" "CACNA1F(NM_001256789.1):c.5048G>A (p.(Gly1683Glu)), CACNA1F(NM_005183.3):c.5081G>A (p.G1694E), CACNA1F(NM_005183.4):c.5081G>A (p.G1694E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49208590C>T" "" "benign" "" "0000576351" "0" "30" "X" "49065081" "49065081" "subst" "0.000179482" "01943" "CACNA1F_000037" "g.49065081C>G" "" "" "" "CACNA1F(NM_001256789.3):c.5017G>C (p.(Gly1673Arg)), CACNA1F(NM_005183.3):c.5050G>C (p.G1684R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49208621C>G" "" "likely benign" "" "0000576352" "0" "50" "X" "49066141" "49066141" "subst" "5.71494E-6" "01943" "CACNA1F_000107" "g.49066141T>C" "" "" "" "CACNA1F(NM_005183.3):c.4802A>G (p.E1601G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49209681T>C" "" "VUS" "" "0000576353" "0" "50" "X" "49066150" "49066150" "subst" "2.27688E-5" "01943" "CACNA1F_000108" "g.49066150C>T" "" "" "" "CACNA1F(NM_005183.3):c.4793G>A (p.R1598Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49209690C>T" "" "VUS" "" "0000576354" "0" "50" "X" "49067106" "49067106" "subst" "2.85799E-5" "02330" "CACNA1F_000109" "g.49067106G>A" "" "" "" "CACNA1F(NM_005183.3):c.4462C>T (p.R1488C), CACNA1F(NM_005183.4):c.4462C>T (p.R1488C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49210646G>A" "" "VUS" "" "0000576355" "0" "30" "X" "49067910" "49067910" "subst" "5.59788E-6" "02330" "CACNA1F_000110" "g.49067910T>A" "" "" "" "CACNA1F(NM_005183.3):c.4165A>T (p.M1389L), CACNA1F(NM_005183.4):c.4165A>T (p.M1389L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49211450T>A" "" "likely benign" "" "0000576356" "0" "50" "X" "49067910" "49067910" "subst" "5.59788E-6" "01943" "CACNA1F_000110" "g.49067910T>A" "" "" "" "CACNA1F(NM_005183.3):c.4165A>T (p.M1389L), CACNA1F(NM_005183.4):c.4165A>T (p.M1389L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49211450T>A" "" "VUS" "" "0000576357" "0" "30" "X" "49068373" "49068373" "subst" "0.000302392" "01943" "CACNA1F_000111" "g.49068373A>G" "" "" "" "CACNA1F(NM_005183.3):c.4118T>C (p.V1373A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49211913A>G" "" "likely benign" "" "0000576358" "0" "90" "X" "49069207" "49069207" "subst" "0" "02330" "CACNA1F_000112" "g.49069207G>A" "" "" "" "CACNA1F(NM_005183.3):c.3895C>T (p.R1299*), CACNA1F(NM_005183.4):c.3895C>T (p.R1299*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49212747G>A" "" "pathogenic" "" "0000576359" "0" "10" "X" "49070329" "49070329" "subst" "0.00107542" "01943" "CACNA1F_000113" "g.49070329C>T" "" "" "" "CACNA1F(NM_005183.3):c.3775G>A (p.A1259T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49213869C>T" "" "benign" "" "0000576360" "0" "50" "X" "49071546" "49071546" "subst" "0" "02327" "CACNA1F_000114" "g.49071546C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49215086C>T" "" "VUS" "" "0000576361" "0" "30" "X" "49071949" "49071949" "subst" "0" "01943" "CACNA1F_000115" "g.49071949A>G" "" "" "" "CACNA1F(NM_005183.3):c.3324T>C (p.N1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49215489A>G" "" "likely benign" "" "0000576362" "0" "90" "X" "49072841" "49072841" "subst" "0" "02330" "CACNA1F_000116" "g.49072841C>T" "" "" "" "CACNA1F(NM_005183.4):c.3269+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49216381C>T" "" "pathogenic" "" "0000576363" "0" "50" "X" "49072842" "49072842" "subst" "7.36694E-5" "01943" "CACNA1F_000054" "g.49072842G>A" "" "" "" "CACNA1F(NM_001256789.1):c.3236C>T (p.(Ala1079Val)), CACNA1F(NM_005183.3):c.3269C>T (p.A1090V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49216382G>A" "" "VUS" "" "0000576364" "0" "30" "X" "49075151" "49075151" "subst" "0.000118371" "01804" "CACNA1F_000117" "g.49075151C>T" "" "" "" "CACNA1F(NM_001256789.1):c.2777G>A (p.(Arg926His)), CACNA1F(NM_005183.3):c.2810G>A (p.R937H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49218692C>T" "" "likely benign" "" "0000576365" "0" "10" "X" "49075327" "49075327" "subst" "0" "02330" "CACNA1F_000118" "g.49075327G>T" "" "" "" "CACNA1F(NM_005183.4):c.2766+14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49218868G>T" "" "benign" "" "0000576366" "0" "50" "X" "49075815" "49075815" "subst" "0" "02327" "CACNA1F_000119" "g.49075815C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49219356C>T" "" "VUS" "" "0000576369" "0" "10" "X" "49079274" "49079274" "subst" "0" "02330" "CACNA1F_000122" "g.49079274G>A" "" "" "" "CACNA1F(NM_005183.4):c.2142C>T (p.N714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49222815G>A" "" "benign" "" "0000576370" "0" "50" "X" "49079414" "49079414" "subst" "0" "01804" "CACNA1F_000123" "g.49079414G>A" "" "" "" "CACNA1F(NM_001256789.1):c.2059C>T (p.(Pro687Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49222955G>A" "" "VUS" "" "0000576371" "0" "30" "X" "49081230" "49081230" "subst" "0.00211607" "01804" "CACNA1F_000003" "g.49081230C>T" "" "" "" "CACNA1F(NM_001256789.1):c.1870G>A (p.(Val624Ile)), CACNA1F(NM_005183.3):c.1903G>A (p.V635I), CACNA1F(NM_005183.4):c.1903G>A (p.V635I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49224768C>T" "" "likely benign" "" "0000576372" "0" "30" "X" "49082365" "49082365" "subst" "1.8378E-5" "01943" "CACNA1F_000124" "g.49082365G>A" "" "" "" "CACNA1F(NM_005183.3):c.1684+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49225903G>A" "" "likely benign" "" "0000576373" "0" "50" "X" "49082401" "49082401" "subst" "5.43173E-5" "01943" "CACNA1F_000125" "g.49082401C>T" "" "" "" "CACNA1F(NM_005183.3):c.1654G>A (p.G552R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49225939C>T" "" "VUS" "" "0000576375" "0" "50" "X" "49082952" "49082952" "subst" "0.000281173" "01943" "CACNA1F_000126" "g.49082952G>A" "" "" "" "CACNA1F(NM_005183.3):c.1415C>T (p.A472V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49226490G>A" "" "VUS" "" "0000576377" "0" "10" "X" "49083177" "49083177" "subst" "0" "02330" "CACNA1F_000128" "g.49083177A>G" "" "" "" "CACNA1F(NM_005183.4):c.1310-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49226715A>G" "" "benign" "" "0000576378" "0" "30" "X" "49083552" "49083552" "subst" "3.4664E-5" "02330" "CACNA1F_000129" "g.49083552C>T" "" "" "" "CACNA1F(NM_005183.4):c.1156G>A (p.G386R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49227090C>T" "" "likely benign" "" "0000576379" "0" "30" "X" "49083552" "49083552" "subst" "3.4664E-5" "02327" "CACNA1F_000129" "g.49083552C>T" "" "" "" "CACNA1F(NM_005183.4):c.1156G>A (p.G386R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49227090C>T" "" "likely benign" "" "0000576380" "0" "30" "X" "49083553" "49083553" "subst" "0.00010406" "01943" "CACNA1F_000130" "g.49083553G>A" "" "" "" "CACNA1F(NM_005183.3):c.1155C>T (p.R385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49227091G>A" "" "likely benign" "" "0000576381" "0" "50" "X" "49084508" "49084508" "subst" "5.63047E-6" "01943" "CACNA1F_000131" "g.49084508C>T" "" "" "" "CACNA1F(NM_005183.3):c.1108G>A (p.V370I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49228046C>T" "" "VUS" "" "0000576382" "0" "70" "X" "49084541" "49084541" "subst" "0" "02327" "CACNA1F_000132" "g.49084541C>T" "" "" "" "CACNA1F(NM_005183.4):c.1075G>A (p.G359R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49228079C>T" "" "likely pathogenic" "" "0000576383" "0" "90" "X" "49084899" "49084899" "del" "0" "01943" "CACNA1F_000090" "g.49084899del" "" "" "" "CACNA1F(NM_005183.3):c.829delG (p.E277Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49228437del" "" "pathogenic" "" "0000576384" "0" "10" "X" "49087011" "49087011" "subst" "0.000102391" "02330" "CACNA1F_000133" "g.49087011C>T" "" "" "" "CACNA1F(NM_005183.4):c.582G>A (p.G194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230549C>T" "" "benign" "" "0000576385" "0" "90" "X" "49087015" "49087015" "del" "0" "02330" "CACNA1F_000134" "g.49087015del" "" "" "" "CACNA1F(NM_001256789.1):c.579delC (p.(Gly195fs)), CACNA1F(NM_005183.4):c.579delC (p.G195Efs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230553del" "" "pathogenic" "" "0000576386" "0" "10" "X" "49087335" "49087335" "subst" "0" "02330" "CACNA1F_000135" "g.49087335G>C" "" "" "" "CACNA1F(NM_005183.4):c.498C>G (p.L166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230873G>C" "" "benign" "" "0000576387" "0" "10" "X" "49087440" "49087440" "subst" "5.52415E-5" "02330" "CACNA1F_000136" "g.49087440C>T" "" "" "" "CACNA1F(NM_005183.3):c.393G>A (p.E131=), CACNA1F(NM_005183.4):c.393G>A (p.E131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230978C>T" "" "benign" "" "0000576388" "0" "10" "X" "49088292" "49088292" "subst" "0.0020144" "02330" "CACNA1F_000083" "g.49088292C>T" "" "" "" "CACNA1F(NM_001256789.3):c.123G>A (p.(Gly41=)), CACNA1F(NM_005183.3):c.123G>A (p.G41=), CACNA1F(NM_005183.4):c.123G>A (p.G41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49231830C>T" "" "benign" "" "0000576389" "0" "50" "X" "49088375" "49088375" "subst" "0.000174882" "02330" "CACNA1F_000137" "g.49088375G>T" "" "" "" "CACNA1F(NM_005183.4):c.40C>A (p.P14T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49231913G>T" "" "VUS" "" "0000576390" "0" "30" "X" "49093663" "49093663" "subst" "0.000129451" "01943" "CCDC22_000011" "g.49093663G>C" "" "" "" "CCDC22(NM_014008.4):c.161G>C (p.S54T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49237196G>C" "" "likely benign" "" "0000619650" "0" "30" "X" "49066833" "49066833" "subst" "5.59481E-6" "01943" "CACNA1F_000141" "g.49066833A>G" "" "" "" "CACNA1F(NM_005183.3):c.4549T>C (p.S1517P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49210373A>G" "" "likely benign" "" "0000619651" "0" "30" "X" "49068718" "49068718" "subst" "2.84065E-5" "01943" "CACNA1F_000142" "g.49068718G>A" "" "" "" "CACNA1F(NM_001256789.3):c.3993C>T (p.(Ala1331=)), CACNA1F(NM_005183.3):c.4026C>T (p.A1342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49212258G>A" "" "likely benign" "" "0000619652" "0" "50" "X" "49069237" "49069237" "subst" "0" "01943" "CACNA1F_000143" "g.49069237G>A" "" "" "" "CACNA1F(NM_005183.3):c.3865C>T (p.R1289C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49212777G>A" "" "VUS" "" "0000619653" "0" "30" "X" "49074484" "49074484" "subst" "0" "02330" "CACNA1F_000145" "g.49074484T>G" "" "" "" "CACNA1F(NM_005183.4):c.2962-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49218025T>G" "" "likely benign" "" "0000619654" "0" "10" "X" "49079179" "49079179" "subst" "0.00152204" "01943" "CACNA1F_000061" "g.49079179T>G" "" "" "" "CACNA1F(NM_001256789.1):c.2204A>C (p.(Asn735Thr)), CACNA1F(NM_005183.3):c.2237A>C (p.N746T), CACNA1F(NM_005183.4):c.2237A>C (p.N746T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49222720T>G" "" "benign" "" "0000619655" "0" "90" "X" "49084555" "49084555" "dup" "0" "02327" "CACNA1F_000147" "g.49084555dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49228093dup" "" "pathogenic" "" "0000619656" "0" "90" "X" "49084570" "49084570" "subst" "0" "02327" "CACNA1F_000148" "g.49084570C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49228108C>T" "" "pathogenic" "" "0000619657" "0" "50" "X" "49084727" "49084727" "subst" "1.68957E-5" "02330" "CACNA1F_000149" "g.49084727C>T" "" "" "" "CACNA1F(NM_005183.4):c.1000G>A (p.D334N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49228265C>T" "" "VUS" "" "0000619658" "0" "50" "X" "49084859" "49084879" "del" "0" "02327" "CACNA1F_000150" "g.49084859_49084879del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49228397_49228417del" "" "VUS" "" "0000619659" "0" "70" "X" "49087087" "49087087" "subst" "0" "02327" "CACNA1F_000097" "g.49087087C>T" "" "" "" "CACNA1F(NM_005183.4):c.522-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230625C>T" "" "likely pathogenic" "" "0000619660" "0" "30" "X" "49087440" "49087440" "subst" "5.52415E-5" "01943" "CACNA1F_000136" "g.49087440C>T" "" "" "" "CACNA1F(NM_005183.3):c.393G>A (p.E131=), CACNA1F(NM_005183.4):c.393G>A (p.E131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230978C>T" "" "likely benign" "" "0000619661" "0" "30" "X" "49093586" "49093586" "subst" "8.43896E-5" "01943" "CACNA1F_000151" "g.49093586C>T" "" "" "" "CCDC22(NM_014008.4):c.84C>T (p.A28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49237119C>T" "" "likely benign" "" "0000624642" "0" "30" "X" "49061735" "49061735" "subst" "8.48738E-5" "01943" "CACNA1F_000138" "g.49061735C>T" "" "" "" "CACNA1F(NM_005183.3):c.5796G>A (p.T1932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49205275C>T" "" "likely benign" "" "0000624644" "0" "30" "X" "49063275" "49063275" "subst" "0" "01943" "CACNA1F_000140" "g.49063275G>A" "" "" "" "CACNA1F(NM_005183.3):c.5306C>T (p.S1769L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49206814G>A" "" "likely benign" "" "0000624645" "0" "50" "X" "49072919" "49072919" "subst" "3.4828E-5" "01943" "CACNA1F_000144" "g.49072919G>T" "" "" "" "CACNA1F(NM_001256789.3):c.3159C>A (p.(Asn1053Lys)), CACNA1F(NM_005183.3):c.3192C>A (p.N1064K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49216459G>T" "" "VUS" "" "0000624646" "0" "10" "X" "49083475" "49083475" "subst" "3.94945E-5" "02330" "CACNA1F_000146" "g.49083475G>A" "" "" "" "CACNA1F(NM_005183.4):c.1233C>T (p.A411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49227013G>A" "" "benign" "" "0000652928" "1" "50" "X" "49081230" "49081230" "subst" "0.00211607" "03575" "CACNA1F_000003" "g.49081230C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs141010716}" "Germline" "" "rs141010716" "0" "" "" "g.49224768C>T" "" "VUS" "" "0000659352" "0" "50" "X" "49067093" "49067093" "subst" "0" "01943" "CACNA1F_000152" "g.49067093G>A" "" "" "" "CACNA1F(NM_005183.3):c.4475C>T (p.P1492L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49210633G>A" "" "VUS" "" "0000659353" "0" "30" "X" "49071851" "49071851" "subst" "0.000129302" "02330" "CACNA1F_000153" "g.49071851C>T" "" "" "" "CACNA1F(NM_005183.4):c.3422G>A (p.R1141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49215391C>T" "" "likely benign" "" "0000659354" "0" "90" "X" "49074374" "49074374" "subst" "0" "01943" "CACNA1F_000154" "g.49074374C>T" "" "" "" "CACNA1F(NM_005183.3):c.3052G>A (p.G1018R), CACNA1F(NM_005183.4):c.3052G>A (p.G1018R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49217915C>T" "" "pathogenic" "" "0000659355" "0" "10" "X" "49081230" "49081230" "subst" "0.00211607" "02327" "CACNA1F_000003" "g.49081230C>T" "" "" "" "CACNA1F(NM_001256789.1):c.1870G>A (p.(Val624Ile)), CACNA1F(NM_005183.3):c.1903G>A (p.V635I), CACNA1F(NM_005183.4):c.1903G>A (p.V635I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49224768C>T" "" "benign" "" "0000659356" "0" "30" "X" "49081423" "49081423" "subst" "1.17881E-5" "01943" "CACNA1F_000155" "g.49081423A>G" "" "" "" "CACNA1F(NM_005183.3):c.1710T>C (p.C570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49224961A>G" "" "likely benign" "" "0000659357" "0" "30" "X" "49083151" "49083151" "subst" "0.00070437" "01943" "CACNA1F_000156" "g.49083151G>A" "" "" "" "CACNA1F(NM_005183.3):c.1323C>T (p.A441=), CACNA1F(NM_005183.4):c.1323C>T (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49226689G>A" "" "likely benign" "" "0000659358" "0" "90" "X" "49084541" "49084541" "subst" "0" "02330" "CACNA1F_000132" "g.49084541C>T" "" "" "" "CACNA1F(NM_005183.4):c.1075G>A (p.G359R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49228079C>T" "" "pathogenic" "" "0000659359" "0" "30" "X" "49086688" "49086688" "subst" "0.000510502" "01943" "CACNA1F_000012" "g.49086688C>T" "" "" "" "CACNA1F(NM_005183.3):c.811G>A (p.G271R), CACNA1F(NM_005183.4):c.811G>A (p.G271R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230226C>T" "" "likely benign" "" "0000659360" "0" "30" "X" "49087047" "49087047" "subst" "0" "01943" "CACNA1F_000157" "g.49087047C>A" "" "" "" "CACNA1F(NM_005183.3):c.546G>T (p.Q182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230585C>A" "" "likely benign" "" "0000659361" "0" "70" "X" "49088170" "49088170" "subst" "0" "02327" "CACNA1F_000158" "g.49088170C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49231708C>T" "" "likely pathogenic" "" "0000659362" "0" "50" "X" "49093590" "49093590" "subst" "0" "01943" "CACNA1F_000159" "g.49093590A>G" "" "" "" "CCDC22(NM_014008.4):c.88A>G (p.T30A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49237123A>G" "" "VUS" "" "0000682483" "0" "30" "X" "49062977" "49062977" "subst" "0" "01943" "CACNA1F_000160" "g.49062977C>T" "" "" "" "CACNA1F(NM_005183.3):c.5500G>A (p.A1834T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682484" "0" "50" "X" "49063542" "49063542" "subst" "1.92357E-5" "02325" "CACNA1F_000161" "g.49063542G>A" "" "" "" "CACNA1F(NM_005183.4):c.5188C>T (p.P1730S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682485" "0" "50" "X" "49067105" "49067105" "subst" "2.28645E-5" "01943" "CACNA1F_000044" "g.49067105C>T" "" "" "" "CACNA1F(NM_001256789.1):c.4430G>A (p.(Arg1477His)), CACNA1F(NM_005183.3):c.4463G>A (p.R1488H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682486" "0" "90" "X" "49069207" "49069207" "subst" "0" "01943" "CACNA1F_000112" "g.49069207G>A" "" "" "" "CACNA1F(NM_005183.3):c.3895C>T (p.R1299*), CACNA1F(NM_005183.4):c.3895C>T (p.R1299*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682487" "0" "90" "X" "49079435" "49079435" "subst" "0" "02327" "CACNA1F_000162" "g.49079435G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000684506" "1" "70" "X" "49088171" "49088171" "subst" "0" "00004" "CACNA1F_000175" "g.49088171G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000684507" "1" "70" "X" "49082896" "49082896" "dup" "0" "00004" "CACNA1F_000171" "g.49082896dup" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000684508" "1" "70" "X" "49218719" "49218719" "subst" "0" "00004" "CACNA1F_000177" "g.49218719G>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000684683" "1" "70" "X" "49068442" "49068442" "subst" "0" "00004" "CACNA1F_000165" "g.49068442C>T" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685057" "0" "70" "X" "49067081" "49067081" "subst" "0" "00004" "CACNA1F_000163" "g.49067081C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685058" "0" "70" "X" "49067561" "49067561" "subst" "0" "00004" "CACNA1F_000092" "g.49067561C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685059" "0" "90" "X" "49068407" "49068407" "subst" "0" "00004" "CACNA1F_000164" "g.49068407G>A" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685060" "0" "90" "X" "49069148" "49069148" "subst" "0" "00004" "CACNA1F_000166" "g.49069148C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685061" "0" "90" "X" "49070258" "49070642" "del" "0" "00004" "CACNA1F_000167" "g.49070258_49070642del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.3718_3825+21del129" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685062" "0" "90" "X" "49075156" "49075156" "del" "0" "00004" "CACNA1F_000168" "g.49075156del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.2805delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685063" "0" "90" "X" "49075803" "49075803" "subst" "0" "00004" "CACNA1F_000087" "g.49075803G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685064" "0" "90" "X" "49076166" "49076166" "subst" "0" "00004" "CACNA1F_000169" "g.49076166C>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685065" "0" "90" "X" "49079044" "49079044" "subst" "0" "00004" "CACNA1F_000170" "g.49079044A>C" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685066" "0" "90" "X" "49083398" "49083398" "subst" "4.54308E-5" "00004" "CACNA1F_000172" "g.49083398C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685067" "0" "90" "X" "49084603" "49084603" "subst" "0" "00004" "CACNA1F_000173" "g.49084603T>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685068" "0" "70" "X" "49084773" "49084775" "del" "0" "00004" "CACNA1F_000174" "g.49084773_49084775del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685069" "0" "90" "X" "49088222" "49088228" "dup" "0" "00004" "CACNA1F_000176" "g.49088222_49088228dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.187_193dupGCCAGTG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000693634" "0" "90" "X" "49075803" "49075803" "subst" "0" "02330" "CACNA1F_000087" "g.49075803G>A" "" "" "" "CACNA1F(NM_005183.4):c.2683C>T (p.R895*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693635" "0" "90" "X" "49081260" "49081260" "subst" "0" "02330" "CACNA1F_000178" "g.49081260G>A" "" "" "" "CACNA1F(NM_005183.4):c.1873C>T (p.R625*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693636" "0" "30" "X" "49081390" "49081390" "subst" "0" "01943" "CACNA1F_000179" "g.49081390G>A" "" "" "" "CACNA1F(NM_005183.3):c.1743C>T (p.Y581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693637" "0" "50" "X" "49084774" "49084774" "subst" "7.33287E-5" "01943" "CACNA1F_000180" "g.49084774A>G" "" "" "" "CACNA1F(NM_005183.3):c.953T>C (p.F318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693638" "0" "30" "X" "49087008" "49087008" "subst" "0" "01943" "CACNA1F_000181" "g.49087008T>C" "" "" "" "CACNA1F(NM_005183.3):c.585A>G (p.G195=), CACNA1F(NM_005183.4):c.585A>G (p.G195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000703791" "1" "50" "X" "49084895" "49084895" "subst" "0" "00008" "CACNA1F_000184" "g.49084895C>A" "" "{PMID:Zito 2003:12552565}" "" "c.637G>T E213X" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000703792" "1" "50" "X" "49083490" "49083490" "del" "0" "00008" "CACNA1F_000183" "g.49083490delG" "" "{PMID:Zito 2003:12552565}" "" "c.1023delC Frameshift" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000703793" "1" "50" "X" "49074961" "49074961" "subst" "0" "00008" "CACNA1F_000182" "g.49074961G>A" "" "{PMID:Zito 2003:12552565}" "" "c.2719C>T R904X" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000708546" "3" "70" "X" "49088391" "49088391" "subst" "0" "01807" "CACNA1F_000185" "g.49088391T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000711677" "1" "70" "X" "49070310" "49070310" "subst" "0" "00008" "CACNA1F_000187" "g.49070310C>A" "" "{PMID:Zeitz 2005:15761389}" "" "AJ006216: 3761G>T (S1254I)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000711678" "1" "70" "X" "49079435" "49079435" "subst" "0" "00008" "CACNA1F_000162" "g.49079435G>A" "" "{PMID:Zeitz 2005:15761389}" "" "AJ006216: 2038C>T (R680X)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000711679" "1" "70" "X" "49075803" "49075803" "subst" "0" "00008" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Zeitz 2005:15761389}" "" "AJ006216: 2650C>T (R884X)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000711680" "1" "70" "X" "49069216" "49069216" "subst" "0" "00008" "CACNA1F_000186" "g.49069216G>T" "" "{PMID:Zeitz 2005:15761389}" "" "AJ006216: 3853C>A (R1285S)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000711681" "1" "30" "X" "49061742" "49061742" "subst" "0.0984974" "00008" "CACNA1F_000007" "g.49061742C>T" "" "{PMID:Zeitz 2005:15761389}" "" "AJ006216: 5756G>A (R1919H)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000713031" "1" "90" "X" "49088267" "49088267" "subst" "0" "00228" "CACNA1F_000340" "g.49088267G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs886039560" "0" "" "" "g.49231805G>A" "" "pathogenic" "" "0000713032" "1" "90" "X" "49088227" "49088233" "dup" "0" "00228" "CACNA1F_000176" "g.49088227_49088233dup" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49231765_49231771dup" "" "pathogenic" "" "0000713033" "1" "90" "X" "49088171" "49088171" "subst" "0" "00228" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs797044676" "0" "" "" "g.49231709G>A" "" "pathogenic" "" "0000713034" "1" "90" "X" "49088171" "49088171" "subst" "0" "00228" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs797044676" "0" "" "" "g.49231709G>A" "" "pathogenic" "" "0000713035" "1" "90" "X" "49088171" "49088171" "subst" "0" "00228" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "rs797044676" "0" "" "" "g.49231709G>A" "" "pathogenic" "" "0000713036" "1" "90" "X" "49088170" "49088170" "subst" "0" "00228" "CACNA1F_000337" "g.49088170C>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49231708C>G" "" "pathogenic" "" "0000713037" "1" "90" "X" "49088170" "49088170" "subst" "0" "00228" "CACNA1F_000337" "g.49088170C>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49231708C>G" "" "pathogenic" "" "0000713038" "1" "90" "X" "49088170" "49088170" "subst" "0" "00228" "CACNA1F_000158" "g.49088170C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49231708C>T" "" "pathogenic" "" "0000713039" "1" "90" "X" "49088170" "49088170" "subst" "0" "00228" "CACNA1F_000158" "g.49088170C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49231708C>T" "" "pathogenic" "" "0000713040" "1" "90" "X" "49088152" "49088152" "subst" "0" "00228" "CACNA1F_000336" "g.49088152A>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49231690A>T" "" "pathogenic" "" "0000713041" "1" "90" "X" "49087746" "49087746" "subst" "8.99442E-6" "00228" "CACNA1F_000334" "g.49087746A>G" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49231284A>G" "" "pathogenic" "" "0000713042" "1" "90" "X" "49087746" "49087746" "subst" "0" "00228" "CACNA1F_000033" "g.49087746A>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49231284A>C" "" "pathogenic" "" "0000713043" "1" "90" "X" "49087675" "49087675" "dup" "0" "00228" "CACNA1F_000333" "g.49087675dup" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49231213dup" "" "pathogenic" "" "0000713044" "1" "90" "X" "49087437" "49087437" "subst" "0" "00228" "CACNA1F_000331" "g.49087437G>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49230975G>T" "" "pathogenic" "" "0000713045" "1" "90" "X" "49087437" "49087437" "subst" "0" "00228" "CACNA1F_000332" "g.49087437G>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230975G>C" "" "pathogenic" "" "0000713046" "1" "90" "X" "49087402" "49087402" "subst" "0" "00228" "CACNA1F_000330" "g.49087402A>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230940A>G" "" "pathogenic" "" "0000713047" "1" "90" "X" "49087385" "49087385" "subst" "0" "00228" "CACNA1F_000188" "g.49087385C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230923C>T" "" "pathogenic" "" "0000713048" "1" "90" "X" "49087385" "49087385" "subst" "0" "00228" "CACNA1F_000188" "g.49087385C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.49230923C>T" "" "pathogenic (recessive)" "" "0000713049" "1" "90" "X" "49087342" "49087343" "ins" "0" "00228" "CACNA1F_000329" "g.49087342_49087343insATAGGT" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230880_49230881insATAGGT" "" "pathogenic" "" "0000713050" "1" "90" "X" "49087013" "49087013" "del" "0" "00228" "CACNA1F_000328" "g.49087013del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230551del" "" "pathogenic" "" "0000713051" "1" "90" "X" "49086982" "49086982" "subst" "0" "00228" "CACNA1F_000327" "g.49086982G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230520G>A" "" "pathogenic" "" "0000713052" "1" "90" "X" "49086946" "49086946" "subst" "0" "00228" "CACNA1F_000326" "g.49086946A>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49230484A>C" "" "pathogenic" "" "0000713053" "1" "90" "X" "49086928" "49086928" "subst" "0" "00228" "CACNA1F_000325" "g.49086928C>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230466C>A" "" "pathogenic" "" "0000713054" "1" "90" "X" "49086768" "49086768" "subst" "0" "00228" "CACNA1F_000323" "g.49086768A>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230306A>C" "" "pathogenic" "" "0000713055" "1" "90" "X" "49086715" "49086715" "subst" "0" "00228" "CACNA1F_000321" "g.49086715G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230253G>A" "" "pathogenic" "" "0000713056" "1" "90" "X" "49086715" "49086715" "subst" "0" "00228" "CACNA1F_000321" "g.49086715G>A" "" "{PMID:Carss 2017:28041643}" "" "" "" "Germline" "" "" "0" "" "" "g.49230253G>A" "" "pathogenic" "" "0000713057" "1" "90" "X" "49086735" "49086735" "subst" "0" "00228" "CACNA1F_000322" "g.49086735C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49230273C>T" "" "pathogenic" "" "0000713058" "1" "90" "X" "49086702" "49086703" "delins" "0" "00228" "CACNA1F_000320" "g.49086702_49086703delinsAAGTTC" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49230240_49230241delinsAAGTTC" "" "pathogenic" "" "0000713059" "1" "90" "X" "49086695" "49086695" "subst" "0" "00228" "CACNA1F_000318" "g.49086695G>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230233G>T" "" "pathogenic" "" "0000713060" "1" "90" "X" "49086684" "49086684" "dup" "0" "00228" "CACNA1F_000317" "g.49086684dup" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49230222dup" "" "pathogenic" "" "0000713061" "1" "90" "X" "49084859" "49084859" "subst" "0" "00228" "CACNA1F_000189" "g.49084859G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49228397G>A" "" "pathogenic" "" "0000713062" "1" "90" "X" "49084859" "49084859" "subst" "0" "00228" "CACNA1F_000189" "g.49084859G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49228397G>A" "" "pathogenic" "" "0000713063" "20" "70" "X" "49084859" "49084859" "subst" "0" "00228" "CACNA1F_000189" "g.49084859G>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49228397G>A" "" "likely pathogenic" "" "0000713064" "1" "90" "X" "49084831" "49084831" "subst" "0" "00228" "CACNA1F_000316" "g.49084831C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49228369C>T" "" "pathogenic" "" "0000713065" "1" "90" "X" "49084818" "49084818" "subst" "5.72095E-6" "00228" "CACNA1F_000315" "g.49084818C>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "rs782020175" "0" "" "" "g.49228356C>A" "" "pathogenic" "" "0000713066" "1" "90" "X" "49084801" "49084801" "subst" "0" "00228" "CACNA1F_000314" "g.49084801C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49228339C>T" "" "pathogenic" "" "0000713067" "1" "90" "X" "49084793" "49084793" "del" "0" "00228" "CACNA1F_000313" "g.49084793del" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49228331del" "" "pathogenic" "" "0000713068" "1" "90" "X" "49084784" "49084786" "del" "0" "00228" "CACNA1F_000312" "g.49084784_49084786del" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49228322_49228324del" "" "pathogenic" "" "0000713069" "1" "90" "X" "49084780" "49084782" "del" "0" "00228" "CACNA1F_000174" "g.49084780_49084782del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49228318_49228320del" "" "pathogenic" "" "0000713070" "1" "90" "X" "49084754" "49084754" "subst" "0" "00228" "CACNA1F_000311" "g.49084754G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49228292G>A" "" "pathogenic" "" "0000713071" "1" "90" "X" "49084741" "49084742" "ins" "0" "00228" "CACNA1F_000310" "g.49084741_49084742insG" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49228279_49228280insG" "" "pathogenic" "" "0000713072" "1" "90" "X" "49084733" "49084733" "subst" "0" "00228" "CACNA1F_000309" "g.49084733A>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49228271A>G" "" "pathogenic" "" "0000713073" "1" "90" "X" "49084718" "49084723" "del" "0" "00228" "CACNA1F_000308" "g.49084718_49084723del" "" "{PMID:Zeitz 2015:25307992}" "" "1004_1009delTGCTCT" "" "Germline" "" "" "0" "" "" "g.49228256_49228261del" "" "pathogenic" "" "0000713074" "1" "90" "X" "49084713" "49084713" "subst" "0" "00228" "CACNA1F_000307" "g.49084713C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49228251C>T" "" "pathogenic" "" "0000713075" "1" "90" "X" "49084712" "49084712" "subst" "0" "00228" "CACNA1F_000306" "g.49084712C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49228250C>T" "" "pathogenic" "" "0000713076" "1" "90" "X" "49084570" "49084570" "subst" "0" "00228" "CACNA1F_000148" "g.49084570C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49228108C>T" "" "pathogenic" "" "0000713077" "1" "90" "X" "49084510" "49084510" "subst" "0" "00228" "CACNA1F_000304" "g.49084510C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49228048C>T" "" "pathogenic" "" "0000713078" "1" "90" "X" "49083590" "49083591" "del" "0" "00228" "CACNA1F_000303" "g.49083590_49083591del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49227128_49227129del" "" "pathogenic" "" "0000713079" "1" "90" "X" "49083567" "49083567" "subst" "0" "00228" "CACNA1F_000302" "g.49083567T>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49227105T>A" "" "pathogenic" "" "0000713080" "1" "90" "X" "49082870" "49082870" "subst" "0" "00228" "CACNA1F_000068" "g.49082870C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49226408C>T" "" "pathogenic" "" "0000713081" "1" "90" "X" "49082518" "49082518" "subst" "0" "00228" "CACNA1F_000296" "g.49082518G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49226056G>A" "" "pathogenic" "" "0000713082" "1" "90" "X" "49082518" "49082518" "subst" "0" "00228" "CACNA1F_000296" "g.49082518G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49226056G>A" "" "pathogenic" "" "0000713083" "1" "90" "X" "49082499" "49082499" "subst" "0" "00228" "CACNA1F_000294" "g.49082499C>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49226037C>G" "" "pathogenic" "" "0000713084" "1" "90" "X" "49082456" "49082456" "subst" "0" "00228" "CACNA1F_000293" "g.49082456C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49225994C>T" "" "pathogenic" "" "0000713085" "1" "90" "X" "49082370" "49082370" "subst" "0" "00228" "CACNA1F_000292" "g.49082370C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49225908C>T" "" "pathogenic" "" "0000713086" "1" "90" "X" "49081339" "49081339" "subst" "0" "00228" "CACNA1F_000290" "g.49081339G>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49224877G>T" "" "pathogenic" "" "0000713087" "1" "90" "X" "49081395" "49081395" "del" "0" "00228" "CACNA1F_000291" "g.49081395del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49224933del" "" "pathogenic" "" "0000713088" "1" "90" "X" "49081284" "49081284" "subst" "0" "00228" "CACNA1F_000289" "g.49081284G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49224822G>A" "" "pathogenic" "" "0000713089" "1" "90" "X" "49081260" "49081260" "subst" "0" "00228" "CACNA1F_000178" "g.49081260G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs886039559" "0" "" "" "g.49224798G>A" "" "pathogenic" "" "0000713090" "1" "90" "X" "49081260" "49081260" "subst" "0" "00228" "CACNA1F_000178" "g.49081260G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs886039559" "0" "" "" "g.49224798G>A" "" "pathogenic" "" "0000713091" "1" "90" "X" "49081221" "49081221" "subst" "0" "00228" "CACNA1F_000288" "g.49081221A>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49224759A>C" "" "pathogenic" "" "0000713092" "1" "90" "X" "49079435" "49079435" "subst" "0" "00228" "CACNA1F_000162" "g.49079435G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs782074040" "0" "" "" "g.49222976G>A" "" "pathogenic" "" "0000713093" "1" "90" "X" "49079435" "49079435" "subst" "0" "00228" "CACNA1F_000162" "g.49079435G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs782074040" "0" "" "" "g.49222976G>A" "" "pathogenic" "" "0000713094" "1" "90" "X" "49079414" "49079415" "del" "0" "00228" "CACNA1F_000287" "g.49079414_49079415del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49222955_49222956del" "" "pathogenic" "" "0000713095" "1" "90" "X" "49079408" "49079408" "subst" "0" "00228" "CACNA1F_000286" "g.49079408C>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49222949C>G" "" "pathogenic" "" "0000713096" "1" "90" "X" "49079387" "49079387" "subst" "0" "00228" "CACNA1F_000285" "g.49079387C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49222928C>T" "" "pathogenic" "" "0000713097" "1" "90" "X" "49079299" "49079299" "subst" "0" "00228" "CACNA1F_000284" "g.49079299T>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49222840T>C" "" "pathogenic" "" "0000713098" "1" "90" "X" "49079293" "49079293" "subst" "0" "00228" "CACNA1F_000283" "g.49079293A>G" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49222834A>G" "" "pathogenic" "" "0000713099" "1" "90" "X" "49079044" "49079044" "subst" "0" "00228" "CACNA1F_000170" "g.49079044A>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49222585A>C" "" "pathogenic" "" "0000713100" "1" "90" "X" "49078980" "49078980" "subst" "0" "00228" "CACNA1F_000281" "g.49078980C>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49222521C>A" "" "pathogenic" "" "0000713101" "1" "90" "X" "49078976" "49078976" "subst" "0" "00228" "CACNA1F_000093" "g.49078976C>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49222517C>A" "" "pathogenic" "" "0000713102" "1" "90" "X" "49061523" "49077540" "del" "0" "00228" "CACNA1F_000190" "g.(?_49061523)_(49077540_49078980)del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "del ex18-48" "" "Germline" "" "" "0" "" "" "g.(?_49205063)_(49221081_49222521)del" "" "pathogenic" "" "0000713103" "1" "90" "X" "49076973" "49076973" "dup" "0" "00228" "CACNA1F_000280" "g.49076973dup" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49220514dup" "" "pathogenic" "" "0000713104" "1" "90" "X" "49076965" "49076966" "del" "0" "00228" "CACNA1F_000279" "g.49076965_49076966del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49220506_49220507del" "" "pathogenic" "" "0000713105" "1" "90" "X" "49076220" "49076220" "subst" "0" "00228" "CACNA1F_000277" "g.49076220C>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49219761C>A" "" "pathogenic" "" "0000713106" "1" "90" "X" "49076220" "49076220" "subst" "0" "00228" "CACNA1F_000277" "g.49076220C>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49219761C>A" "" "pathogenic" "" "0000713107" "1" "90" "X" "49076166" "49076166" "subst" "0" "00228" "CACNA1F_000169" "g.49076166C>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49219707C>A" "" "pathogenic" "" "0000713108" "1" "90" "X" "49076135" "49076135" "subst" "0" "00228" "CACNA1F_000276" "g.49076135A>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49219676A>T" "" "pathogenic" "" "0000713109" "1" "90" "X" "49076092" "49076092" "subst" "0" "00228" "CACNA1F_000275" "g.49076092C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49219633C>T" "" "pathogenic" "" "0000713110" "1" "90" "X" "49075910" "49075910" "subst" "0" "00228" "CACNA1F_000273" "g.49075910C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs782553358" "0" "" "" "g.49219451C>T" "" "pathogenic" "" "0000713111" "1" "90" "X" "49075910" "49075910" "subst" "0" "00228" "CACNA1F_000273" "g.49075910C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs782553358" "0" "" "" "g.49219451C>T" "" "pathogenic" "" "0000713112" "1" "90" "X" "49075911" "49075911" "subst" "0" "00228" "CACNA1F_000274" "g.49075911T>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49219452T>A" "" "pathogenic" "" "0000713113" "1" "90" "X" "49075859" "49075859" "subst" "0" "00228" "CACNA1F_000272" "g.49075859A>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49219400A>C" "" "pathogenic" "" "0000713114" "1" "90" "X" "49075850" "49075851" "dup" "0" "00228" "CACNA1F_000271" "g.49075850_49075851dup" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49219391_49219392dup" "" "pathogenic" "" "0000713115" "1" "90" "X" "49075803" "49075803" "subst" "0" "00228" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs122456135" "0" "" "" "g.49219344G>A" "" "pathogenic" "" "0000713116" "1" "90" "X" "49075803" "49075803" "subst" "0" "00228" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs122456135" "0" "" "" "g.49219344G>A" "" "pathogenic" "" "0000713117" "1" "90" "X" "49075803" "49075803" "subst" "0" "00228" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs122456135" "0" "" "" "g.49219344G>A" "" "pathogenic" "" "0000713118" "1" "90" "X" "49075803" "49075803" "subst" "0" "00228" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs122456135" "0" "" "" "g.49219344G>A" "" "pathogenic" "" "0000713119" "1" "90" "X" "49075360" "49075360" "subst" "0" "00228" "CACNA1F_000270" "g.49075360G>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49218901G>C" "" "pathogenic" "" "0000713120" "1" "90" "X" "49075190" "49075191" "del" "0" "00228" "CACNA1F_000268" "g.49075190_49075191del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49218731_49218732del" "" "pathogenic" "" "0000713121" "1" "90" "X" "49075164" "49075165" "ins" "0" "00228" "CACNA1F_000267" "g.49075164_49075165insA" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49218705_49218706insA" "" "pathogenic" "" "0000713122" "1" "90" "X" "49075156" "49075156" "del" "0" "00228" "CACNA1F_000168" "g.49075156del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49218697del" "" "pathogenic" "" "0000713123" "1" "90" "X" "49075149" "49075149" "subst" "0" "00228" "CACNA1F_000266" "g.49075149T>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218690T>C" "" "pathogenic" "" "0000713124" "1" "90" "X" "49075139" "49075139" "subst" "0" "00228" "CACNA1F_000265" "g.49075139T>G" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218680T>G" "" "pathogenic" "" "0000713125" "1" "90" "X" "49075131" "49075132" "delins" "0" "00228" "CACNA1F_000264" "g.49075131_49075132delinsAG" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218672_49218673delinsAG" "" "pathogenic" "" "0000713126" "1" "90" "X" "49075131" "49075131" "subst" "0" "00228" "CACNA1F_000263" "g.49075131C>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218672C>A" "" "pathogenic" "" "0000713127" "1" "90" "X" "49075109" "49075109" "dup" "0" "00228" "CACNA1F_000261" "g.49075109dup" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218650dup" "" "pathogenic" "" "0000713128" "1" "90" "X" "49074970" "49074970" "subst" "0" "00228" "CACNA1F_000034" "g.49074970G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs122456134" "0" "" "" "g.49218511G>A" "" "pathogenic" "" "0000713129" "1" "90" "X" "49074970" "49074970" "subst" "0" "00228" "CACNA1F_000034" "g.49074970G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs122456134" "0" "" "" "g.49218511G>A" "" "pathogenic" "" "0000713130" "1" "90" "X" "49074970" "49074970" "subst" "0" "00228" "CACNA1F_000034" "g.49074970G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs122456134" "0" "" "" "g.49218511G>A" "" "pathogenic" "" "0000713131" "1" "90" "X" "49074943" "49074943" "subst" "0" "00228" "CACNA1F_000259" "g.49074943G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218484G>A" "" "pathogenic" "" "0000713132" "1" "90" "X" "49074943" "49074943" "subst" "0" "00228" "CACNA1F_000259" "g.49074943G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218484G>A" "" "pathogenic" "" "0000713133" "1" "90" "X" "49074943" "49074943" "subst" "0" "00228" "CACNA1F_000259" "g.49074943G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218484G>A" "" "pathogenic" "" "0000713134" "1" "90" "X" "49074943" "49074943" "subst" "0" "00228" "CACNA1F_000259" "g.49074943G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218484G>A" "" "pathogenic" "" "0000713135" "1" "90" "X" "49074943" "49074943" "subst" "0" "00228" "CACNA1F_000259" "g.49074943G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218484G>A" "" "pathogenic" "" "0000713136" "1" "90" "X" "49074943" "49074943" "subst" "0" "00228" "CACNA1F_000259" "g.49074943G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218484G>A" "" "pathogenic" "" "0000713137" "1" "90" "X" "49074913" "49074913" "subst" "0" "00228" "CACNA1F_000258" "g.49074913C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49218454C>T" "" "pathogenic" "" "0000713138" "1" "90" "X" "49074434" "49074434" "subst" "0" "00228" "CACNA1F_000257" "g.49074434G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49217975G>A" "" "pathogenic" "" "0000713139" "1" "90" "X" "49074418" "49074420" "del" "0" "00228" "CACNA1F_000256" "g.49074418_49074420del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49217959_49217961del" "" "pathogenic" "" "0000713140" "1" "90" "X" "49074374" "49074374" "subst" "0" "00228" "CACNA1F_000154" "g.49074374C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49217915C>T" "" "pathogenic" "" "0000713141" "1" "90" "X" "49074374" "49074374" "subst" "0" "00228" "CACNA1F_000154" "g.49074374C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49217915C>T" "" "pathogenic" "" "0000713142" "1" "90" "X" "49074374" "49074374" "subst" "0" "00228" "CACNA1F_000154" "g.49074374C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49217915C>T" "" "pathogenic" "" "0000713143" "1" "90" "X" "49074212" "49074215" "del" "0" "00228" "CACNA1F_000255" "g.49074212_49074215del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "30121_3122+2del" "" "Germline" "" "" "0" "" "" "g.49217753_49217756del" "" "pathogenic" "" "0000713144" "1" "90" "X" "49072948" "49072948" "dup" "0" "00228" "CACNA1F_000254" "g.49072948dup" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49216488dup" "" "pathogenic" "" "0000713145" "1" "90" "X" "49072948" "49072948" "dup" "0" "00228" "CACNA1F_000254" "g.49072948dup" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49216488dup" "" "pathogenic" "" "0000713146" "1" "90" "X" "49072841" "49072841" "subst" "0" "00228" "CACNA1F_000116" "g.49072841C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49216381C>T" "" "pathogenic" "" "0000713147" "20" "90" "X" "49072841" "49072841" "subst" "0" "00228" "CACNA1F_000116" "g.49072841C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49216381C>T" "" "likely pathogenic" "" "0000713148" "1" "90" "X" "49072006" "49072006" "subst" "0" "00228" "CACNA1F_000250" "g.49072006G>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49215546G>C" "" "pathogenic" "" "0000713149" "1" "90" "X" "49071840" "49071840" "subst" "5.62477E-5" "00228" "CACNA1F_000247" "g.49071840C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs138447882" "0" "" "" "g.49215380C>T" "" "pathogenic" "" "0000713150" "1" "90" "X" "49071833" "49071833" "del" "0" "00228" "CACNA1F_000246" "g.49071833del" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49215373del" "" "pathogenic" "" "0000713151" "1" "90" "X" "49071816" "49071825" "dup" "0" "00228" "CACNA1F_000245" "g.49071816_49071825dup" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49215356_49215365dup" "" "pathogenic" "" "0000713152" "1" "90" "X" "49071804" "49071804" "subst" "0" "00228" "CACNA1F_000244" "g.49071804G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49215344G>A" "" "pathogenic" "" "0000713153" "1" "90" "X" "49071803" "49071803" "subst" "0" "00228" "CACNA1F_000243" "g.49071803T>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49215343T>C" "" "pathogenic" "" "0000713154" "1" "90" "X" "49071800" "49071800" "subst" "0" "00228" "CACNA1F_000242" "g.49071800A>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49215340A>C" "" "pathogenic" "" "0000713155" "1" "90" "X" "49071694" "49071694" "subst" "0" "00228" "CACNA1F_000241" "g.49071694A>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49215234A>C" "" "pathogenic" "" "0000713156" "1" "90" "X" "49071685" "49071685" "subst" "0" "00228" "CACNA1F_000240" "g.49071685G>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49215225G>T" "" "pathogenic" "" "0000713157" "1" "90" "X" "49071671" "49071672" "del" "0" "00228" "CACNA1F_000238" "g.49071671_49071672del" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49215211_49215212del" "" "pathogenic" "" "0000713158" "1" "90" "X" "49071674" "49071674" "subst" "0" "00228" "CACNA1F_000239" "g.49071674G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49215214G>A" "" "pathogenic" "" "0000713159" "1" "90" "X" "49071625" "49071625" "subst" "0" "00228" "CACNA1F_000235" "g.49071625C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49215165C>T" "" "pathogenic" "" "0000713160" "1" "90" "X" "49071654" "49071654" "dup" "0" "00228" "CACNA1F_000236" "g.49071654dup" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49215194dup" "" "pathogenic" "" "0000713161" "1" "90" "X" "49070665" "49070665" "subst" "0" "00228" "CACNA1F_000232" "g.49070665A>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49214205A>C" "" "pathogenic" "" "0000713162" "1" "90" "X" "49070642" "49070642" "del" "0" "00228" "CACNA1F_000231" "g.49070642del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49214182del" "" "pathogenic" "" "0000713163" "1" "90" "X" "49070226" "49070354" "del" "0" "00228" "CACNA1F_000230" "g.49070226_49070354del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49213766_49213894del" "" "pathogenic" "" "0000713164" "1" "90" "X" "49069256" "49069256" "subst" "0" "00228" "CACNA1F_000229" "g.49069256C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49212796C>T" "" "pathogenic" "" "0000713165" "1" "90" "X" "49069154" "49069167" "delins" "0" "00228" "CACNA1F_000226" "g.49069154_49069167delins49068751_49068899" "" "{PMID:Zeitz 2015:25307992}" "" "3935-3948delinsAGCCACATAGGGCAAGGCCTATAGGGATGGGGGAGGGGGGCAGAGAATAGATGCACAGGCTCAGGCAAAGAACTATAAGCCCCAGAATGCACTGCTTTCCCTGGCCTGGGCCTACTGGGAGATGCAGTCCATCTCCAAAGTGCCAAGGA" "" "Germline" "" "" "0" "" "" "g.49212694_49212707delins49212291_49212439" "" "pathogenic" "" "0000713166" "1" "90" "X" "49069216" "49069216" "subst" "0" "00228" "CACNA1F_000228" "g.49069216G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49212756G>A" "" "pathogenic" "" "0000713167" "1" "90" "X" "49069207" "49069207" "subst" "0" "00228" "CACNA1F_000112" "g.49069207G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49212747G>A" "" "pathogenic" "" "0000713168" "1" "90" "X" "49069148" "49069148" "subst" "0" "00228" "CACNA1F_000166" "g.49069148C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49212688C>T" "" "pathogenic" "" "0000713169" "1" "90" "X" "49068769" "49068769" "subst" "0" "00228" "CACNA1F_000225" "g.49068769C>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49212309C>G" "" "pathogenic" "" "0000713170" "1" "90" "X" "49068702" "49068702" "subst" "0" "00228" "CACNA1F_000224" "g.49068702C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "rs782557600" "0" "" "" "g.49212242C>T" "" "pathogenic" "" "0000713171" "1" "90" "X" "49068698" "49068698" "subst" "0" "00228" "CACNA1F_000223" "g.49068698C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49212238C>T" "" "pathogenic" "" "0000713172" "1" "90" "X" "49068442" "49068442" "subst" "0" "00228" "CACNA1F_000222" "g.49068442C>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49211982C>A" "" "pathogenic" "" "0000713173" "1" "90" "X" "49068407" "49068407" "subst" "0" "00228" "CACNA1F_000164" "g.49068407G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49211947G>A" "" "pathogenic" "" "0000713174" "1" "90" "X" "49068407" "49068407" "subst" "0" "00228" "CACNA1F_000164" "g.49068407G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49211947G>A" "" "pathogenic" "" "0000713175" "1" "90" "X" "49068407" "49068407" "subst" "0" "00228" "CACNA1F_000164" "g.49068407G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49211947G>A" "" "pathogenic" "" "0000713176" "1" "90" "X" "49068367" "49068367" "subst" "0" "00228" "CACNA1F_000221" "g.49068367A>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49211907A>T" "" "pathogenic" "" "0000713177" "1" "90" "X" "49067942" "49067942" "subst" "0" "00228" "CACNA1F_000220" "g.49067942C>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49211482C>G" "" "pathogenic" "" "0000713178" "1" "90" "X" "49067816" "49067816" "subst" "0" "00228" "CACNA1F_000219" "g.49067816T>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49211356T>C" "" "pathogenic" "" "0000713179" "1" "90" "X" "49067470" "49067470" "subst" "0" "00228" "CACNA1F_000216" "g.49067470A>G" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49211010A>G" "" "pathogenic" "" "0000713180" "1" "90" "X" "49067449" "49067449" "subst" "0" "00228" "CACNA1F_000214" "g.49067449C>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210989C>A" "" "pathogenic" "" "0000713181" "1" "90" "X" "49067147" "49067147" "subst" "0" "00228" "CACNA1F_000213" "g.49067147C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49210687C>T" "" "pathogenic" "" "0000713182" "1" "90" "X" "49067111" "49067111" "subst" "0" "00228" "CACNA1F_000211" "g.49067111A>G" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210651A>G" "" "pathogenic" "" "0000713183" "1" "90" "X" "49067102" "49067102" "del" "0" "00228" "CACNA1F_000210" "g.49067102del" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210642del" "" "pathogenic" "" "0000713184" "1" "90" "X" "49067081" "49067081" "subst" "0" "00228" "CACNA1F_000163" "g.49067081C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210621C>T" "" "pathogenic" "" "0000713185" "1" "90" "X" "49067064" "49067064" "subst" "0" "00228" "CACNA1F_000206" "g.49067064G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "rs782581701" "0" "" "" "g.49210604G>A" "" "pathogenic" "" "0000713186" "1" "90" "X" "49067094" "49067094" "subst" "0" "00228" "CACNA1F_000208" "g.49067094G>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210634G>C" "" "pathogenic" "" "0000713187" "1" "90" "X" "49067094" "49067094" "subst" "0" "00228" "CACNA1F_000208" "g.49067094G>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210634G>C" "" "pathogenic" "" "0000713188" "1" "90" "X" "49067088" "49067088" "subst" "0" "00228" "CACNA1F_000207" "g.49067088C>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210628C>T" "" "pathogenic" "" "0000713189" "1" "90" "X" "49067048" "49067048" "subst" "0" "00228" "CACNA1F_000205" "g.49067048A>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210588A>T" "" "pathogenic" "" "0000713190" "1" "90" "X" "49066859" "49066859" "subst" "0" "00228" "CACNA1F_000204" "g.49066859A>G" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210399A>G" "" "pathogenic" "" "0000713191" "1" "90" "X" "49066805" "49066805" "subst" "0" "00228" "CACNA1F_000203" "g.49066805G>T" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49210345G>T" "" "pathogenic" "" "0000713192" "1" "90" "X" "49066800" "49066802" "delins" "0" "00228" "CACNA1F_000201" "g.49066800_49066802delinsGG" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49210340_49210342delinsGG" "" "pathogenic" "" "0000713193" "1" "90" "X" "49066789" "49066789" "dup" "0" "00228" "CACNA1F_000200" "g.49066789dup" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49210329dup" "" "pathogenic" "" "0000713194" "1" "90" "X" "49066788" "49066788" "subst" "0" "00228" "CACNA1F_000199" "g.49066788G>A" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49210328G>A" "" "pathogenic" "" "0000713195" "1" "90" "X" "49066175" "49066175" "subst" "0" "00228" "CACNA1F_000198" "g.49066175G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49209715G>A" "" "pathogenic" "" "0000713196" "1" "90" "X" "49066125" "49066125" "del" "0" "00228" "CACNA1F_000197" "g.49066125del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49209665del" "" "pathogenic" "" "0000713197" "1" "90" "X" "49066099" "49066099" "del" "0" "00228" "CACNA1F_000196" "g.49066099del" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49209639del" "" "pathogenic" "" "0000713198" "1" "90" "X" "49065809" "49065809" "del" "0" "00228" "CACNA1F_000194" "g.49065809del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "" "0" "" "" "g.49209349del" "" "pathogenic" "" "0000713199" "1" "90" "X" "49062998" "49062998" "subst" "5.60083E-6" "00228" "CACNA1F_000101" "g.49062998G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "rs782034481" "0" "" "" "g.49206537G>A" "" "pathogenic" "" "0000713200" "1" "90" "X" "49062138" "49062138" "subst" "1.2386E-5" "00228" "CACNA1F_000192" "g.49062138G>C" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}" "" "" "" "Germline" "" "rs782033301" "0" "" "" "g.49205678G>C" "" "pathogenic" "" "0000713201" "1" "90" "X" "49062115" "49062115" "del" "0" "00228" "CACNA1F_000191" "g.49062115del" "" "{PMID:Zeitz 2019:30825406}, {DOI:Zeitz 2019:10.1002/humu.23735}, {PMID:Zeitz 2015:25307992}" "" "" "" "Germline" "" "" "0" "" "" "g.49205655del" "" "pathogenic" "" "0000713202" "1" "90" "X" "49088267" "49088267" "subst" "0" "00000" "CACNA1F_000340" "g.49088267G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49231805G>A" "" "pathogenic" "" "0000713203" "1" "90" "X" "49088207" "49088207" "subst" "0" "00000" "CACNA1F_000338" "g.49088207G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49231745G>A" "" "pathogenic" "" "0000713204" "1" "90" "X" "49088171" "49088171" "subst" "0" "00000" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49231709G>A" "" "pathogenic" "" "0000713205" "1" "90" "X" "49088171" "49088171" "subst" "0" "00000" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49231709G>A" "" "pathogenic" "" "0000713206" "1" "90" "X" "49088170" "49088170" "subst" "0" "00000" "CACNA1F_000158" "g.49088170C>T" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49231708C>T" "" "pathogenic" "" "0000713207" "1" "90" "X" "49088170" "49088170" "subst" "0" "00000" "CACNA1F_000158" "g.49088170C>T" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49231708C>T" "" "pathogenic" "" "0000713208" "1" "90" "X" "49088143" "49088143" "subst" "0" "00000" "CACNA1F_000335" "g.49088143C>T" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49231681C>T" "" "pathogenic" "" "0000713209" "1" "90" "X" "49086814" "49086814" "subst" "0" "00000" "CACNA1F_000324" "g.49086814A>G" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49230352A>G" "" "pathogenic" "" "0000713210" "1" "90" "X" "49084780" "49084782" "del" "0" "00000" "CACNA1F_000174" "g.49084780_49084782del" "" "{PMID:Hove 2016:28002560}" "" "952_954delTTC" "" "Germline" "" "" "0" "" "" "g.49228318_49228320del" "" "pathogenic" "" "0000713211" "1" "90" "X" "49084780" "49084782" "del" "0" "00000" "CACNA1F_000174" "g.49084780_49084782del" "" "{PMID:Hove 2016:28002560}" "" "952_954delTTC" "" "Germline" "" "" "0" "" "" "g.49228318_49228320del" "" "pathogenic" "" "0000713212" "1" "90" "X" "49084602" "49084602" "subst" "0" "00000" "CACNA1F_000305" "g.49084602C>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49228140C>A" "" "pathogenic" "" "0000713213" "1" "90" "X" "49083407" "49083407" "subst" "0" "00000" "CACNA1F_000300" "g.49083407G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49226945G>A" "" "pathogenic" "" "0000713214" "1" "90" "X" "49082882" "49082882" "subst" "0" "00000" "CACNA1F_000298" "g.49082882A>T" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49226420A>T" "" "pathogenic" "" "0000713215" "1" "90" "X" "49082518" "49082518" "subst" "0" "00000" "CACNA1F_000296" "g.49082518G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49226056G>A" "" "pathogenic" "" "0000713216" "1" "90" "X" "49081260" "49081260" "subst" "0" "00000" "CACNA1F_000178" "g.49081260G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49224798G>A" "" "pathogenic" "" "0000713217" "1" "90" "X" "49079435" "49079435" "subst" "0" "00000" "CACNA1F_000162" "g.49079435G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49222976G>A" "" "pathogenic" "" "0000713218" "1" "90" "X" "49078988" "49078988" "subst" "0" "00000" "CACNA1F_000282" "g.49078988T>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49222529T>A" "" "pathogenic" "" "0000713219" "1" "90" "X" "49076961" "49076961" "subst" "0" "00000" "CACNA1F_000278" "g.49076961T>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49220502T>A" "" "pathogenic" "" "0000713220" "1" "90" "X" "49076961" "49076961" "subst" "0" "00000" "CACNA1F_000278" "g.49076961T>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49220502T>A" "" "pathogenic" "" "0000713221" "1" "90" "X" "49075803" "49075803" "subst" "0" "00000" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49219344G>A" "" "pathogenic" "" "0000713222" "1" "90" "X" "49075803" "49075803" "subst" "0" "00000" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49219344G>A" "" "pathogenic" "" "0000713223" "1" "90" "X" "49075117" "49075117" "del" "0" "00000" "CACNA1F_000262" "g.49075117del" "" "{PMID:Hove 2016:28002560}" "" "2844delC" "" "Germline" "" "" "0" "" "" "g.49218658del" "" "pathogenic" "" "0000713224" "1" "90" "X" "49074952" "49074952" "subst" "0" "00000" "CACNA1F_000260" "g.49074952G>C" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49218493G>C" "" "pathogenic" "" "0000713225" "1" "90" "X" "49072898" "49072899" "del" "0" "00000" "CACNA1F_000252" "g.49072898_49072899del" "" "{PMID:Hove 2016:28002560}" "" "3212_3213delAT" "" "Germline" "" "" "0" "" "" "g.49216438_49216439del" "" "pathogenic" "" "0000713226" "1" "90" "X" "49072841" "49072841" "subst" "0" "00000" "CACNA1F_000116" "g.49072841C>T" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49216381C>T" "" "pathogenic" "" "0000713227" "1" "90" "X" "49071664" "49071664" "del" "0" "00000" "CACNA1F_000237" "g.49071664del" "" "{PMID:Hove 2016:28002560}" "" "3512delG" "" "Germline" "" "" "0" "" "" "g.49215204del" "" "pathogenic" "" "0000713228" "1" "90" "X" "49070694" "49070694" "subst" "7.28802E-5" "00000" "CACNA1F_000233" "g.49070694C>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49214234C>A" "" "pathogenic" "" "0000713229" "1" "90" "X" "49069207" "49069207" "subst" "0" "00000" "CACNA1F_000112" "g.49069207G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49212747G>A" "" "pathogenic" "" "0000713230" "1" "90" "X" "49069206" "49069206" "subst" "0" "00000" "CACNA1F_000227" "g.49069206C>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49212746C>A" "" "pathogenic" "" "0000713231" "1" "90" "X" "49067450" "49067450" "subst" "0" "00000" "CACNA1F_000215" "g.49067450A>G" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49210990A>G" "" "pathogenic" "" "0000713232" "1" "90" "X" "49067129" "49067130" "del" "0" "00000" "CACNA1F_000212" "g.49067129_49067130del" "" "{PMID:Hove 2016:28002560}" "" "4438_4439delTT" "" "Germline" "" "" "0" "" "" "g.49210669_49210670del" "" "pathogenic" "" "0000713233" "1" "90" "X" "49066803" "49066803" "subst" "0" "00000" "CACNA1F_000202" "g.49066803G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49210343G>A" "" "pathogenic" "" "0000713234" "1" "90" "X" "49066788" "49066788" "subst" "0" "00000" "CACNA1F_000199" "g.49066788G>A" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49210328G>A" "" "pathogenic" "" "0000713235" "1" "90" "X" "49065834" "49065834" "dup" "0" "00000" "CACNA1F_000195" "g.49065834dup" "" "{PMID:Hove 2016:28002560}" "" "" "" "Germline" "" "" "0" "" "" "g.49209374dup" "" "pathogenic" "" "0000713320" "20" "90" "X" "49083136" "49083137" "ins" "0" "00000" "CACNA1F_000299" "g.49083136_49083137insA" "" "{PMID:Carss 2017:28041643}" "" "X:49083135T>TA ENST00000376265.2:c.1338_1339insT (Arg447Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713362" "20" "90" "X" "49069216" "49069216" "subst" "0" "00000" "CACNA1F_000228" "g.49069216G>A" "" "{PMID:Carss 2017:28041643}" "" "X:49069216G>A ENST00000376265.2:c.3886C>T (Arg1296Cys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713364" "20" "90" "X" "49067096" "49067096" "subst" "0" "00000" "CACNA1F_000209" "g.49067096G>A" "" "{PMID:Carss 2017:28041643}" "" "X:49067096G>A ENST00000376265.2:c.4472C>T (Pro1491Leu)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713389" "20" "90" "X" "49071931" "49071932" "del" "0" "00000" "CACNA1F_000248" "g.49071931_49071932del" "" "{PMID:Carss 2017:28041643}" "" "X:49071930CTG>C ENST00000376265.2:c.3341_3342delCA (Ser1114CysfsTer38)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713404" "20" "90" "X" "49074970" "49074970" "subst" "0" "00000" "CACNA1F_000034" "g.49074970G>A" "" "{PMID:Carss 2017:28041643}" "" "X:49074970G>A ENST00000376265.2:c.2905C>T (Arg969Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713407" "20" "90" "X" "49084773" "49084775" "del" "0" "00000" "CACNA1F_000174" "g.49084773_49084775del" "" "{PMID:Carss 2017:28041643}" "" "X:49084772CGAA>C ENST00000376265.2:c.952_954delTTC (Phe318del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713578" "20" "90" "X" "49082513" "49082517" "del" "0" "00000" "CACNA1F_000295" "g.49082513_49082517del" "" "{PMID:Carss 2017:28041643}" "" "X:49082512TGGCTC>T ENST00000376265.2:c.1538_1542delGAGCC (Arg513GlnfsTer35)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713592" "20" "90" "X" "49072898" "49072898" "subst" "0" "00000" "CACNA1F_000251" "g.49072898A>C" "" "{PMID:Carss 2017:28041643}" "" "X:49072898A>C ENST00000376265.2:c.3213T>G (Asn1071Lys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713612" "20" "90" "X" "49082864" "49082865" "del" "0" "00000" "CACNA1F_000297" "g.49082864_49082865del" "" "{PMID:Carss 2017:28041643}" "" "X:49082863GCCCTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCT>G ENST00000376265.2:c.1466_1496+7delAGGGGGCTCTGGCCAGCTGTACACGCTGCCTGTGAGGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713620" "20" "90" "X" "49071548" "49071548" "subst" "0" "00000" "CACNA1F_000234" "g.49071548G>A" "" "{PMID:Carss 2017:28041643}" "" "X:49071548G>A ENST00000376265.2:c.3628C>T (Gln1210Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713652" "20" "90" "X" "49075340" "49075340" "subst" "0" "00000" "CACNA1F_000269" "g.49075340C>T" "" "{PMID:Carss 2017:28041643}" "" "X:49075340C>T ENST00000376265.2:c.2766+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713668" "20" "90" "X" "49083490" "49083490" "del" "0" "00000" "CACNA1F_000301" "g.49083490del" "" "{PMID:Carss 2017:28041643}" "" "X:49083489AG>A ENST00000376265.2:c.1218delC (Trp407GlyfsTer37)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713943" "1" "90" "X" "49067485" "49067485" "subst" "0" "00000" "CACNA1F_000217" "g.49067485A>C" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.49211025A>C" "" "pathogenic (recessive)" "" "0000713944" "1" "90" "X" "49072898" "49072899" "ins" "0" "00000" "CACNA1F_000253" "g.49072898_49072899insN[?]" "" "{PMID:Zhou 2018:29453956}" "" "3213_3214ins (N1071fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713945" "1" "90" "X" "49088219" "49088219" "subst" "0" "00000" "CACNA1F_000339" "g.49088219G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.49231757G>A" "" "pathogenic (recessive)" "" "0000714029" "20" "70" "X" "49084859" "49084859" "subst" "0" "00000" "CACNA1F_000189" "g.49084859G>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49228397G>A" "" "likely pathogenic" "" "0000714030" "20" "70" "X" "49067545" "49067545" "subst" "0" "00000" "CACNA1F_000218" "g.49067545T>C" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49211085T>C" "" "likely pathogenic" "" "0000714039" "20" "70" "X" "49088170" "49088170" "subst" "0" "00000" "CACNA1F_000158" "g.49088170C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49231708C>T" "" "likely pathogenic" "" "0000714040" "20" "70" "X" "49068442" "49068442" "subst" "0" "00000" "CACNA1F_000222" "g.49068442C>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49211982C>A" "" "likely pathogenic" "" "0000714041" "20" "70" "X" "49071984" "49071984" "subst" "4.72383E-5" "00000" "CACNA1F_000249" "g.49071984C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49215524C>T" "" "likely pathogenic" "" "0000714042" "20" "70" "X" "49063209" "49063209" "dup" "0" "00000" "CACNA1F_000193" "g.49063209dup" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49206748dup" "" "likely pathogenic" "" "0000714043" "20" "70" "X" "49067096" "49067096" "subst" "0" "00000" "CACNA1F_000209" "g.49067096G>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49210636G>A" "" "likely pathogenic" "" "0000714044" "20" "70" "X" "49086698" "49086698" "subst" "0" "00000" "CACNA1F_000319" "g.49086698G>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.49230236G>T" "" "likely pathogenic" "" "0000728984" "0" "30" "X" "49062235" "49062235" "subst" "0" "01943" "CACNA1F_000341" "g.49062235C>T" "" "" "" "CACNA1F(NM_005183.3):c.5544G>A (p.L1848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728985" "0" "50" "X" "49069253" "49069253" "subst" "0" "02330" "CACNA1F_000342" "g.49069253G>T" "" "" "" "CACNA1F(NM_005183.4):c.3849C>A (p.S1283R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728986" "0" "30" "X" "49072013" "49072013" "subst" "0.000117519" "01943" "CACNA1F_000343" "g.49072013C>T" "" "" "" "CACNA1F(NM_005183.3):c.3270-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728987" "0" "70" "X" "49082457" "49082457" "del" "0" "02330" "CACNA1F_000344" "g.49082457del" "" "" "" "CACNA1F(NM_005183.4):c.1600delG (p.A534Lfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728988" "0" "50" "X" "49086738" "49086738" "subst" "7.13127E-5" "02325" "CACNA1F_000078" "g.49086738A>G" "" "" "" "CACNA1F(NM_005183.3):c.761T>C (p.I254T), CACNA1F(NM_005183.4):c.761T>C (p.I254T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728989" "0" "50" "X" "49088195" "49088195" "subst" "0" "02329" "CACNA1F_000011" "g.49088195A>G" "" "" "" "CACNA1F(NM_005183.4):c.220T>C (p.C74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728990" "0" "50" "X" "49088206" "49088206" "subst" "2.81177E-5" "01804" "CACNA1F_000080" "g.49088206C>T" "" "" "" "CACNA1F(NM_001256789.1):c.209G>A (p.(Arg70Gln)), CACNA1F(NM_005183.3):c.209G>A (p.R70Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000731333" "21" "70" "X" "49087706" "49087706" "del" "0" "00000" "CACNA1F_000345" "g.49087706del" "" "{PMID:Rim 2017:29145603}" "" "342delC" "" "Germline" "" "" "0" "" "" "g.49231244del" "" "likely pathogenic (recessive)" "" "0000732485" "0" "50" "X" "49065081" "49065081" "subst" "0.000869365" "00000" "CACNA1F_000346" "g.49065081C>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.49208621C>A" "" "VUS" "" "0000732549" "0" "90" "X" "49076092" "49076092" "subst" "0" "00000" "CACNA1F_000275" "g.49076092C>T" "" "{PMID:Wang 2017:28838317}" "" "IVS20+1G>A" "" "Germline" "" "" "0" "" "" "g.49219633C>T" "" "pathogenic" "" "0000732618" "0" "90" "X" "49082436" "49082436" "subst" "0" "00000" "CACNA1F_000349" "g.49082436A>G" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.49225974A>G" "" "pathogenic" "" "0000732689" "0" "70" "X" "49084860" "49084860" "subst" "0" "00000" "CACNA1F_000350" "g.49084860C>T" "" "{PMID:Soens 2017:28714225}" "" "NM_001256789.1:c.867G>A" "r.(=) effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.49228398C>T" "" "likely pathogenic" "" "0000732873" "0" "70" "X" "49087770" "49087770" "del" "0" "00000" "CACNA1F_000351" "g.49087770del" "" "{PMID:Stone 2017:28559085}" "" "IVS2-1 del1G" "" "Germline" "" "" "0" "" "" "g.49231308del" "" "likely pathogenic" "" "0000732876" "0" "70" "X" "49082518" "49082518" "subst" "0" "00000" "CACNA1F_000296" "g.49082518G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.49226056G>A" "" "likely pathogenic" "" "0000732877" "0" "70" "X" "49071801" "49071801" "subst" "0" "00000" "CACNA1F_000347" "g.49071801C>G" "" "{PMID:Stone 2017:28559085}" "" "IVS28+1 G>C" "" "Germline" "" "" "0" "" "" "g.49215341C>G" "" "likely pathogenic" "" "0000732878" "0" "70" "X" "49072948" "49072948" "dup" "0" "00000" "CACNA1F_000254" "g.49072948dup" "" "{PMID:Stone 2017:28559085}" "" "3162_3163insC" "" "Germline" "" "" "0" "" "" "g.49216488dup" "" "likely pathogenic" "" "0000734375" "3" "50" "X" "49074242" "49074242" "subst" "4.47452E-5" "00000" "CACNA1F_000348" "g.49074242C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.49217783C>T" "" "VUS" "" "0000735359" "21" "70" "X" "49072933" "49072933" "subst" "0" "00000" "CACNA1F_000352" "g.49072933G>A" "" "{PMID:Jin 2017:28373534}" "" "NM_001256789:3145C>T" "" "Germline" "" "" "0" "" "" "g.49216473G>A" "" "likely pathogenic" "" "0000735596" "0" "70" "X" "49074425" "49074425" "subst" "2.8018E-5" "00000" "CACNA1F_000353" "g.49074425C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.49217966C>T" "" "likely pathogenic" "" "0000736355" "1" "70" "X" "49070310" "49070310" "subst" "0" "00008" "CACNA1F_000187" "g.49070310C>A" "" "{PMID:Zeitz 2005:15761389}" "" "AJ006216: 3761G>T (S1254I)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000736820" "0" "50" "X" "49076243" "49076245" "dup" "0" "00000" "CACNA1F_000121" "g.49076243_49076245dup" "11/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs112450928" "0" "" "" "g.49219784_49219786dup" "" "VUS" "" "0000736821" "1" "50" "X" "49076212" "49076229" "dup" "0" "00000" "CACNA1F_000354" "g.49076212_49076229dup" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.49219753_49219770dup" "" "VUS" "" "0000760007" "0" "50" "X" "49068373" "49068373" "subst" "0.000302392" "00000" "CACNA1F_000111" "g.49068373A>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.49211913A>G" "" "VUS" "" "0000763958" "1" "70" "X" "49067494" "49067500" "del" "0" "00006" "CACNA1F_000355" "g.49067494_49067500del" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.49211034_49211040del" "" "likely pathogenic" "" "0000763959" "1" "70" "X" "49082518" "49082518" "subst" "0" "00006" "CACNA1F_000296" "g.49082518G>A" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.49226056G>A" "" "likely pathogenic" "" "0000763960" "1" "70" "X" "49074383" "49074383" "subst" "5.59816E-6" "00006" "CACNA1F_000356" "g.49074383C>T" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.49217924C>T" "" "likely pathogenic" "" "0000763963" "1" "70" "X" "49075803" "49075803" "subst" "0" "00006" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.49219344G>A" "" "likely pathogenic" "" "0000765447" "20" "90" "X" "49066864" "49066864" "subst" "0" "00000" "CACNA1F_000358" "g.49066864C>T" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.49210404C>T" "" "pathogenic" "" "0000765448" "20" "90" "X" "49066425" "49066425" "del" "0" "00000" "CACNA1F_000357" "g.49066425del" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.49209965del" "" "pathogenic" "" "0000765469" "20" "70" "X" "49088170" "49088170" "subst" "0" "00000" "CACNA1F_000158" "g.49088170C>T" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.49231708C>T" "" "likely pathogenic" "" "0000765470" "20" "70" "X" "49087762" "49087762" "subst" "1.81431E-5" "00000" "CACNA1F_000360" "g.49087762C>T" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.49231300C>T" "" "likely pathogenic" "" "0000765471" "20" "70" "X" "49084801" "49084801" "subst" "0" "00000" "CACNA1F_000314" "g.49084801C>T" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.49228339C>T" "" "likely pathogenic" "" "0000765472" "20" "70" "X" "49075385" "49075385" "subst" "0" "00000" "CACNA1F_000359" "g.49075385C>A" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.49218926C>A" "" "likely pathogenic" "" "0000765499" "20" "70" "X" "49072842" "49072842" "subst" "7.36694E-5" "00000" "CACNA1F_000054" "g.49072842G>A" "2/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "rs370329845" "0" "" "" "g.49216382G>A" "" "likely pathogenic" "" "0000765909" "0" "70" "X" "49081230" "49081230" "subst" "0.00211607" "00000" "CACNA1F_000003" "g.49081230C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.49224768C>T" "" "likely pathogenic" "" "0000783999" "20" "90" "X" "49071594" "49071594" "subst" "0" "00006" "CACNA1F_000361" "g.49071594G>C" "1/205 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784000" "21" "90" "X" "49061832" "49061832" "subst" "0" "00006" "CACNA1F_000362" "g.49061832G>C" "1/205 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784651" "0" "50" "X" "49082952" "49082952" "subst" "0.000281173" "00000" "CACNA1F_000126" "g.49082952G>A" "1/205 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "7/933 control chromosomes" "Germline" "" "rs2272704" "0" "" "" "g.49226490G>A" "" "VUS" "" "0000786346" "0" "90" "X" "49079179" "49079179" "subst" "0.00152204" "00000" "CACNA1F_000061" "g.49079179T>G" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.49222720T>G" "" "pathogenic" "" "0000787686" "0" "70" "X" "49074943" "49074943" "subst" "0" "00000" "CACNA1F_000259" "g.49074943G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49218484G>A" "" "likely pathogenic" "" "0000787690" "0" "70" "X" "49082903" "49082903" "subst" "0" "00000" "CACNA1F_000363" "g.49082903C>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49226441C>A" "" "likely pathogenic" "" "0000788430" "3" "50" "X" "49075353" "49075353" "subst" "0" "00000" "CACNA1F_000364" "g.49075353C>A" "" "{PMID:Katagiri 2014:25268133}" "" "G2754T" "" "Germline" "" "" "0" "" "" "g.49218894C>A" "" "VUS" "" "0000788489" "3" "50" "X" "49084807" "49084807" "subst" "5.66967E-5" "00000" "CACNA1F_000365" "g.49084807T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A920G" "" "Germline" "" "" "0" "" "" "g.49228345T>C" "" "VUS" "" "0000789764" "0" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Jacobson 2008:18463160}" "" "CSNB2A (CACNA1F): p.Pro197AlafsX" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000790181" "20" "90" "X" "49075777" "49075777" "subst" "0.0430974" "00000" "CACNA1F_000386" "g.49075777C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2673+3G>A" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790204" "0" "70" "X" "49088267" "49088267" "subst" "0" "00000" "CACNA1F_000340" "g.49088267G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.148C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790205" "0" "70" "X" "49088260" "49088264" "del" "0" "00000" "CACNA1F_000397" "g.49088260_49088264delTTTCT" "" "{PMID:Zeitz-2009:19578023}" "" "c.151_155delAGAAA (p.Arg51ProfsX65)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790206" "0" "70" "X" "49088195" "49088195" "subst" "0" "00000" "CACNA1F_000011" "g.49088195A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.220T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790207" "0" "70" "X" "49088171" "49088171" "subst" "0" "00000" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.244C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790208" "0" "70" "X" "49087453" "49087453" "subst" "0" "00000" "CACNA1F_000396" "g.49087453T>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.382-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790209" "0" "70" "X" "49087385" "49087385" "subst" "0" "00000" "CACNA1F_000395" "g.49087385C>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.448G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790210" "0" "70" "X" "49086814" "49086814" "subst" "0" "00000" "CACNA1F_000324" "g.49086814A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.685T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790211" "0" "70" "X" "49086718" "49086718" "subst" "0" "00000" "CACNA1F_000394" "g.49086718C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.781G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790212" "0" "70" "X" "49084895" "49084895" "subst" "0" "00000" "CACNA1F_000184" "g.49084895C>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.832G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790213" "0" "70" "X" "49084823" "49084824" "ins" "0" "00000" "CACNA1F_000393" "g.49084823_49084824insC" "" "{PMID:Zeitz-2009:19578023}" "" "c.903_904insG (p.Arg302AlafsX13)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790214" "0" "70" "X" "49084792" "49084792" "del" "0" "00000" "CACNA1F_000392" "g.49084792delT" "" "{PMID:Zeitz-2009:19578023}" "" "c.935delA (p.Asp312ThrfsX10)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790215" "0" "90" "X" "49084780" "49084782" "del" "0" "00000" "CACNA1F_000174" "g.49084780_49084782delAAG" "" "{PMID:Zeitz-2009:19578023}" "" "c.945_947delCTT (p.Phe316del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790216" "0" "70" "X" "49084510" "49084510" "subst" "0" "00000" "CACNA1F_000304" "g.49084510C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.1106G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790217" "0" "70" "X" "49083495" "49083495" "del" "0" "00000" "CACNA1F_000391" "g.49083495delG" "" "{PMID:Zeitz-2009:19578023}" "" "c.1213delC (p.Leu405TrpfsX28)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790218" "0" "70" "X" "49083159" "49083159" "subst" "0" "00000" "CACNA1F_000390" "g.49083159G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.1282C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790219" "0" "30" "X" "49082499" "49082499" "subst" "0.0175728" "00000" "CACNA1F_000001" "g.49082499C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.1523G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000790220" "0" "30" "X" "49082499" "49082499" "subst" "0.0175728" "00000" "CACNA1F_000001" "g.49082499C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.1523G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000790221" "0" "70" "X" "49081260" "49081260" "subst" "0" "00000" "CACNA1F_000178" "g.49081260G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.1840C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790222" "0" "70" "X" "49081230" "49081230" "subst" "0.00211607" "00000" "CACNA1F_000003" "g.49081230C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.1870G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790223" "0" "70" "X" "49079485" "49079485" "subst" "0" "00000" "CACNA1F_000389" "g.49079485C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.1988G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790224" "0" "70" "X" "49079435" "49079435" "subst" "0" "00000" "CACNA1F_000162" "g.49079435G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2038C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790225" "0" "50" "X" "49079179" "49079179" "subst" "0.00152204" "00000" "CACNA1F_000061" "g.49079179T>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2204A>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790226" "0" "70" "X" "49079044" "49079044" "subst" "0" "00000" "CACNA1F_000170" "g.49079044A>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790227" "0" "70" "X" "49076250" "49076250" "subst" "0" "00000" "CACNA1F_000388" "g.49076250C>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2387-1G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790228" "0" "70" "X" "49075907" "49075907" "subst" "0" "00000" "CACNA1F_000387" "g.49075907A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2546T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790229" "0" "70" "X" "49075803" "49075803" "subst" "0" "00000" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2650C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790230" "0" "30" "X" "49075777" "49075777" "subst" "0.0430974" "00000" "CACNA1F_000386" "g.49075777C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2673+3G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000790232" "0" "30" "X" "49075777" "49075777" "subst" "0.0430974" "00000" "CACNA1F_000386" "g.49075777C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2673+3G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000790233" "0" "70" "X" "49075402" "49075403" "del" "0" "00000" "CACNA1F_000385" "g.49075402_49075403delTG" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2674-2_2674-3delCA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790234" "0" "70" "X" "49075340" "49075340" "subst" "0" "00000" "CACNA1F_000384" "g.49075340C>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2733+1G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790235" "0" "70" "X" "49075178" "49075178" "subst" "0" "00000" "CACNA1F_000177" "g.49075178G>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2750C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790236" "0" "70" "X" "49075131" "49075131" "subst" "0" "00000" "CACNA1F_000263" "g.49075131C>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2797G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790237" "0" "70" "X" "49074970" "49074970" "subst" "0" "00000" "CACNA1F_000034" "g.49074970G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2872C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790238" "0" "70" "X" "49074961" "49074961" "subst" "0" "00000" "CACNA1F_000182" "g.49074961G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2881C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790239" "0" "90" "X" "49074943" "49074943" "subst" "0" "00000" "CACNA1F_000259" "g.49074943G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2899C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790240" "0" "30" "X" "49074454" "49074454" "subst" "0" "00000" "CACNA1F_000383" "g.49074454C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2938+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000790241" "0" "70" "X" "49074418" "49074420" "del" "0" "00000" "CACNA1F_000382" "g.49074418_49074420delATG" "" "{PMID:Zeitz-2009:19578023}" "" "c.2973_2975delCAT (p.Ile992del)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790242" "0" "90" "X" "49074374" "49074374" "subst" "0" "00000" "CACNA1F_000154" "g.49074374C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.3019G>A" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000790243" "0" "70" "X" "49072960" "49072960" "del" "0" "00000" "CACNA1F_000381" "g.49072960delC" "" "{PMID:Zeitz-2009:19578023}" "" "c.3118delG (p.Asp1040ThrfsX26)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790244" "0" "70" "X" "49072944" "49072945" "ins" "0" "00000" "CACNA1F_000380" "g.49072944_49072945insG" "" "{PMID:Zeitz-2009:19578023}" "" "c.3133_3134insC (p.Leu1045ProfsX11)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790245" "0" "70" "X" "49072933" "49072933" "subst" "0" "00000" "CACNA1F_000352" "g.49072933G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.3145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790246" "0" "70" "X" "49072875" "49072875" "subst" "0" "00000" "CACNA1F_000379" "g.49072875A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.3203T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790247" "0" "70" "X" "49071840" "49071840" "subst" "5.62477E-5" "00000" "CACNA1F_000247" "g.49071840C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.3400G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790248" "0" "70" "X" "49071671" "49071672" "del" "0" "00000" "CACNA1F_000378" "g.49071671_49071672delGC" "" "{PMID:Zeitz-2009:19578023}" "" "c.3471_3472delGC (p.Gln1157HisX25)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000790249" "0" "70" "X" "49070688" "49070688" "del" "0" "00000" "CACNA1F_000377" "g.49070688delG" "" "{PMID:Zeitz-2009:19578023}" "" "c.3639delC (Leu1214SerfsX42)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790250" "0" "70" "X" "49070658" "49070669" "del" "0" "00000" "CACNA1F_000376" "g.49070658_49070669delAGTGAAGAGGCC" "" "{PMID:Zeitz-2009:19578023}" "" "c.3658_3669delGGCCTCTTCACT (p.1220delGlyLeuPheThr)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790251" "0" "70" "X" "49070310" "49070310" "subst" "0" "00000" "CACNA1F_000187" "g.49070310C>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.3761G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790252" "0" "70" "X" "49069216" "49069216" "subst" "0" "00000" "CACNA1F_000186" "g.49069216G>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.3853C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790253" "0" "70" "X" "49069207" "49069207" "subst" "0" "00000" "CACNA1F_000112" "g.49069207G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.3862C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790254" "0" "70" "X" "49069125" "49069125" "subst" "0" "00000" "CACNA1F_000374" "g.49069125A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.3942+2T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790255" "0" "70" "X" "49069125" "49069125" "subst" "0" "00000" "CACNA1F_000375" "g.49069125A>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.3942+2T>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790256" "0" "70" "X" "49068416" "49068416" "subst" "0" "00000" "CACNA1F_000373" "g.49068416G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4042C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790257" "0" "70" "X" "49068367" "49068367" "subst" "0" "00000" "CACNA1F_000221" "g.49068367A>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4091T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790258" "0" "70" "X" "49067942" "49067942" "subst" "0" "00000" "CACNA1F_000220" "g.49067942C>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4101-1G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790259" "0" "70" "X" "49067493" "49067493" "subst" "0" "00000" "CACNA1F_000372" "g.49067493C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4320>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790260" "0" "70" "X" "49067073" "49067073" "subst" "0" "00000" "CACNA1F_000371" "g.49067073A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4462T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790261" "0" "70" "X" "49067069" "49067069" "subst" "0" "00000" "CACNA1F_000370" "g.49067069G>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4466C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790262" "0" "70" "X" "49067111" "49067111" "subst" "0" "00000" "CACNA1F_000211" "g.49067111A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4424T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790263" "0" "70" "X" "49067094" "49067094" "subst" "0" "00000" "CACNA1F_000208" "g.49067094G>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4441C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790264" "0" "70" "X" "49066859" "49066859" "subst" "0" "00000" "CACNA1F_000204" "g.49066859A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4490T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790265" "0" "70" "X" "49066801" "49066801" "del" "0" "00000" "CACNA1F_000369" "g.49066801delG" "" "{PMID:Zeitz-2009:19578023}" "" "c.4548delC (p.Phe1517LeufsX8)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790266" "0" "70" "X" "49066503" "49066503" "subst" "0" "00000" "CACNA1F_000368" "g.49066503T>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4590-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790267" "0" "70" "X" "49066139" "49066139" "subst" "0" "00000" "CACNA1F_000367" "g.49066139T>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4771A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790268" "0" "70" "X" "49062998" "49062998" "subst" "5.60083E-6" "00000" "CACNA1F_000101" "g.49062998G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.5446C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790269" "0" "70" "X" "49062114" "49062114" "del" "0" "00000" "CACNA1F_000366" "g.49062114delG" "" "{PMID:Zeitz-2009:19578023}" "" "c.5632delC (p.His1878MetfsX43)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790291" "0" "50" "X" "49079435" "49079435" "subst" "0" "00000" "CACNA1F_000162" "g.49079435G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.2038C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790292" "0" "50" "X" "49067111" "49067111" "subst" "0" "00000" "CACNA1F_000211" "g.49067111A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ006216: c.4424T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790888" "20" "70" "X" "49067069" "49067069" "subst" "0" "00000" "CACNA1F_000370" "g.49067069G>C" "" "{PMID:Simonsz-2009:20001510}" "" "c.4499C>G [p.Pro1500Arg]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790889" "20" "70" "X" "49067069" "49067069" "subst" "0" "00000" "CACNA1F_000370" "g.49067069G>C" "" "{PMID:Simonsz-2009:20001510}" "" "c.4499C>G [p.Pro1500Arg]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790890" "20" "70" "X" "49084570" "49084570" "subst" "0" "00000" "CACNA1F_000148" "g.49084570C>T" "" "{PMID:Simonsz-2009:20001510}" "" "c.1046G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790891" "20" "70" "X" "49084570" "49084570" "subst" "0" "00000" "CACNA1F_000148" "g.49084570C>T" "" "{PMID:Simonsz-2009:20001510}" "" "c.1046G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790893" "20" "70" "X" "49088195" "49088195" "subst" "0" "00000" "CACNA1F_000011" "g.49088195A>G" "" "{PMID:Simonsz-2009:20001510}" "" "c.220T>C (p.Cys74Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790894" "20" "70" "X" "49088195" "49088195" "subst" "0" "00000" "CACNA1F_000011" "g.49088195A>G" "" "{PMID:Simonsz-2009:20001510}" "" "c.220T>C (p.Cys74Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790895" "20" "70" "X" "49084541" "49084541" "subst" "0" "00000" "CACNA1F_000132" "g.49084541C>T" "" "{PMID:Simonsz-2009:20001510}" "" "c.1075G>A (p.Gly359Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790896" "20" "70" "X" "49084541" "49084541" "subst" "0" "00000" "CACNA1F_000132" "g.49084541C>T" "" "{PMID:Simonsz-2009:20001510}" "" "c.1075G>A (p.Gly359Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000791162" "21" "50" "X" "49084880" "49084880" "subst" "0" "00000" "CACNA1F_000398" "g.49084880A>G" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.49228418A>G" "" "VUS" "ACMG" "0000792253" "0" "90" "X" "49084754" "49084754" "subst" "0" "00000" "CACNA1F_000311" "g.49084754G>A" "" "{PMID:_Audo-2012:22277662}" "" "c.973C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000793837" "20" "70" "X" "49067485" "49067485" "subst" "0" "00000" "CACNA1F_000217" "g.49067485A>C" "" "{PMID:Zhou-2011:21677794}" "" "c.4361T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793838" "20" "70" "X" "49072897" "49072898" "ins" "0" "00000" "CACNA1F_000253" "g.49072897_49072898insN[?]" "" "{PMID:Zhou-2011:21677794}" "" "c.3213_3214ins" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793839" "20" "70" "X" "49087385" "49087385" "subst" "0" "00000" "CACNA1F_000188" "g.49087385C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.448G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793840" "20" "70" "X" "49088219" "49088219" "subst" "0" "00000" "CACNA1F_000339" "g.49088219G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.196C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793994" "20" "70" "X" "49074425" "49074425" "subst" "2.8018E-5" "00000" "CACNA1F_000353" "g.49074425C>T" "0/96 controls" "{PMID:Wang-2012:22735794}" "" "c.[1984_1986delCTC;3001G>A]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793995" "20" "70" "X" "49079520" "49079522" "del" "0" "00000" "CACNA1F_000399" "g.49079520_49079522delGAG" "0/96 controls" "{PMID:Wang-2012:22735794}" "" "c.[1984_1986delCTC;3001G>A]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794199" "0" "70" "X" "49062998" "49062998" "subst" "5.60083E-6" "03508" "CACNA1F_000101" "g.49062998G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000796314" "0" "90" "X" "49088207" "49088207" "subst" "0" "00000" "CACNA1F_000338" "g.49088207G>A" "" "{PMID:Bijveld 2013:23714322}" "" "c.208C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796315" "0" "90" "X" "49088195" "49088195" "subst" "0" "00000" "CACNA1F_000011" "g.49088195A>G" "" "{PMID:Bijveld 2013:23714322}" "" "c.220T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796316" "0" "90" "X" "49088170" "49088171" "ins" "0" "00000" "CACNA1F_000413" "g.49088170_49088171insC" "" "{PMID:Bijveld 2013:23714322}" "" "c.244insG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796317" "0" "90" "X" "49087764" "49087764" "dup" "0" "00000" "CACNA1F_000412" "g.49087764dup" "" "{PMID:Bijveld 2013:23714322}" "" "c.281dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796318" "0" "90" "X" "49087420" "49087420" "del" "0" "00000" "CACNA1F_000411" "g.49087420del" "" "{PMID:Bijveld 2013:23714322}" "" "c.413del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796319" "0" "90" "X" "49087364" "49087364" "subst" "0" "00000" "CACNA1F_000410" "g.49087364C>G" "" "{PMID:Bijveld 2013:23714322}" "" "c.469G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796320" "0" "90" "X" "49083082" "49086972" "delins" "0" "00000" "CACNA1F_000407" "g.49083082_49086972delinsCAATGAG" "" "{PMID:Bijveld 2013:23714322}" "" "c.621_1392delinsCTCATTG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796321" "0" "90" "X" "49086691" "49086691" "del" "0" "00000" "CACNA1F_000409" "g.49086691del" "" "{PMID:Bijveld 2013:23714322}" "" "c.808delC" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796322" "0" "90" "X" "49084773" "49084775" "del" "0" "00000" "CACNA1F_000174" "g.49084773_49084775del" "" "{PMID:Bijveld 2013:23714322}" "" "c.952_954del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796323" "0" "90" "X" "49084541" "49084541" "subst" "0" "00000" "CACNA1F_000132" "g.49084541C>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.1075G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796324" "0" "90" "X" "49062666" "49084291" "del" "0" "00000" "CACNA1F_000400" "g.49062666_49084291del" "" "{PMID:Bijveld 2013:23714322}" "" "c.1118+207_5505+306del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796325" "0" "90" "X" "49083573" "49083573" "subst" "0" "00000" "CACNA1F_000408" "g.49083573T>A" "" "{PMID:Bijveld 2013:23714322}" "" "c.1135A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796326" "0" "90" "X" "49082870" "49082870" "subst" "0" "00000" "CACNA1F_000068" "g.49082870C>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.1496+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796327" "0" "90" "X" "49082370" "49082370" "subst" "0" "00000" "CACNA1F_000292" "g.49082370C>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.1684+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796328" "0" "90" "X" "49079435" "49079435" "subst" "0" "00000" "CACNA1F_000162" "g.49079435G>A" "" "{PMID:Bijveld 2013:23714322}" "" "c.2071C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796329" "0" "90" "X" "49079056" "49079056" "del" "0" "00000" "CACNA1F_000406" "g.49079056del" "" "{PMID:Bijveld 2013:23714322}" "" "c.2246delT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796330" "0" "90" "X" "49075862" "49075863" "del" "0" "00000" "CACNA1F_000405" "g.49075862_49075863del" "" "{PMID:Bijveld 2013:23714322}" "" "c.2623_2624del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796331" "0" "90" "X" "49075803" "49075803" "subst" "0" "00000" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Bijveld 2013:23714322}" "" "c.2683C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796332" "0" "90" "X" "49075181" "49075181" "subst" "0" "00000" "CACNA1F_000404" "g.49075181C>G" "" "{PMID:Bijveld 2013:23714322}" "" "c.2780G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796333" "0" "90" "X" "49074943" "49074943" "subst" "0" "00000" "CACNA1F_000259" "g.49074943G>A" "" "{PMID:Bijveld 2013:23714322}" "" "c.2932C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796334" "0" "90" "X" "49074374" "49074374" "subst" "0" "00000" "CACNA1F_000154" "g.49074374C>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.3052G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796335" "0" "90" "X" "49071932" "49071932" "subst" "0" "00000" "CACNA1F_000403" "g.49071932G>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.3341C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796336" "0" "90" "X" "49069207" "49069207" "subst" "0" "00000" "CACNA1F_000112" "g.49069207G>A" "" "{PMID:Bijveld 2013:23714322}" "" "c.3895C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796337" "0" "90" "X" "49067493" "49067493" "subst" "0" "00000" "CACNA1F_000372" "g.49067493C>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.4353G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796338" "0" "90" "X" "49063243" "49063244" "ins" "0" "00000" "CACNA1F_000401" "g.49063243_49063244insC" "" "{PMID:Bijveld 2013:23714322}" "" "c.5337_5338insG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796339" "0" "90" "X" "49067781" "49068769" "del" "0" "00000" "CACNA1F_000402" "g.49067781_49068769del" "" "{PMID:Bijveld 2013:23714322}" "" "del ex34-36, c.3976-?_c.4293+?" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797192" "0" "70" "X" "49067064" "49067064" "subst" "0" "00000" "CACNA1F_000206" "g.49067064G>A" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.4504C>T/p.R1502*, allele 2: -" "heterozygous" "Germline" "yes" "" "0" "" "" "g.49210604G>A" "" "likely pathogenic" "ACMG" "0000797415" "0" "70" "X" "49088267" "49088267" "subst" "0" "00000" "CACNA1F_000340" "g.49088267G>A" "" "{PMID:Patel 2019:30653986}" "" "error in annotation: c.148G-->A instead of C>T; p.Arg50*8" "no Sanger sequencing; hemizygous" "Germline" "?" "" "0" "" "" "g.49231805G>A" "" "likely pathogenic" "" "0000797417" "0" "70" "X" "49071685" "49071685" "dup" "0" "00000" "CACNA1F_000415" "g.49071685dup" "" "{PMID:Patel 2019:30653986}" "" "different transcript:NM_001256789.2(CACNA1F):c.3492dup; p.Lys1165Glnfs*18" "confirmed with Sanger sequencing; hemizygous" "Germline" "?" "" "0" "" "" "g.49215225dup" "" "likely pathogenic" "" "0000797551" "0" "90" "X" "49069216" "49069216" "subst" "0" "00000" "CACNA1F_000228" "g.49069216G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.3886C>T, p.(Arg1296Cys)" "" "Germline" "?" "" "0" "" "" "g.49212756G>A" "" "pathogenic" "ACMG" "0000797552" "0" "70" "X" "49084910" "49084910" "subst" "0" "00000" "CACNA1F_000417" "g.49084910C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.818-1G>A, p.(?), CLRN1 c.460_467dup, p.(Gln157Thrfs*12)" "" "Germline" "?" "" "0" "" "" "g.49228448C>T" "" "likely pathogenic" "ACMG" "0000797554" "0" "70" "X" "49081260" "49081260" "subst" "0" "00000" "CACNA1F_000178" "g.49081260G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.1873C>T, p.(Arg625*)" "" "Germline" "?" "" "0" "" "" "g.49224798G>A" "" "likely pathogenic" "ACMG" "0000797555" "0" "90" "X" "49088171" "49088171" "subst" "0" "00000" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.244C>T, p.(Arg82*),, pCDH15 c.(3983+1_3984-1), _(4367+1_4368-1), del" "" "Germline" "?" "" "0" "" "" "g.49231709G>A" "" "pathogenic" "ACMG" "0000797557" "0" "90" "X" "49088171" "49088171" "subst" "0" "00000" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.244C>T, p.(Arg82*)" "" "Germline" "?" "" "0" "" "" "g.49231709G>A" "" "pathogenic" "ACMG" "0000797955" "0" "70" "X" "49067450" "49067450" "subst" "0" "00000" "CACNA1F_000215" "g.49067450A>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.4396T>C, p.(Trp1466Arg)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.49210990A>G" "" "likely pathogenic" "ACMG" "0000797956" "0" "50" "X" "49079179" "49079179" "subst" "0.00152204" "00000" "CACNA1F_000061" "g.49079179T>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.2237A>C, p.(Asn746Thr)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.49222720T>G" "" "VUS" "ACMG" "0000797957" "0" "50" "X" "49072839" "49072839" "subst" "0.00011339" "00000" "CACNA1F_000416" "g.49072839C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.3269+3G>A, p.(?)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.49216379C>T" "" "VUS" "ACMG" "0000797995" "0" "50" "X" "49079179" "49079179" "subst" "0.00152204" "00000" "CACNA1F_000061" "g.49079179T>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "CRX c.(?_-1), _(*1_?), dup , CACNA1F c.2237A>C, p.(Asn746Thr)" "" "Germline" "?" "" "0" "" "" "g.49222720T>G" "" "VUS" "ACMG" "0000798440" "20" "70" "X" "49067914" "49067914" "subst" "0" "00000" "CACNA1F_000414" "g.49067914C>A" "" "{PMID:Song-2011:22025579}" "" "c.4161G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000810469" "0" "70" "X" "49067049" "49067049" "subst" "0" "02327" "CACNA1F_000418" "g.49067049C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810470" "0" "50" "X" "49067106" "49067106" "subst" "2.85799E-5" "01943" "CACNA1F_000109" "g.49067106G>A" "" "" "" "CACNA1F(NM_005183.3):c.4462C>T (p.R1488C), CACNA1F(NM_005183.4):c.4462C>T (p.R1488C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810471" "0" "30" "X" "49067862" "49067862" "subst" "0.000386085" "02330" "CACNA1F_000045" "g.49067862C>T" "" "" "" "CACNA1F(NM_005183.3):c.4213G>A (p.G1405S), CACNA1F(NM_005183.4):c.4213G>A (p.G1405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810472" "0" "90" "X" "49074374" "49074374" "subst" "0" "02330" "CACNA1F_000154" "g.49074374C>T" "" "" "" "CACNA1F(NM_005183.3):c.3052G>A (p.G1018R), CACNA1F(NM_005183.4):c.3052G>A (p.G1018R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810473" "0" "30" "X" "49076221" "49076229" "del" "0" "01943" "CACNA1F_000059" "g.49076221_49076229del" "" "" "" "CACNA1F(NM_005183.3):c.2466_2474delAGAGGAAGA (p.E823_E825del), CACNA1F(NM_005183.4):c.2466_2474delAGAGGAAGA (p.E823_E825del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810474" "0" "30" "X" "49082529" "49082529" "subst" "0.00010946" "01943" "CACNA1F_000419" "g.49082529C>T" "" "" "" "CACNA1F(NM_005183.3):c.1526G>A (p.R509H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810475" "0" "50" "X" "49086735" "49086735" "subst" "0" "01943" "CACNA1F_000322" "g.49086735C>T" "" "" "" "CACNA1F(NM_005183.3):c.764G>A (p.G255E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810476" "0" "70" "X" "49087087" "49087087" "subst" "0" "02330" "CACNA1F_000097" "g.49087087C>T" "" "" "" "CACNA1F(NM_005183.4):c.522-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000811504" "0" "70" "X" "49068442" "49068442" "subst" "0" "00000" "CACNA1F_000165" "g.49068442C>T" "" "{PMID:Kim 2019:31496144}" "" "CACNA1F c.4049G>A, p.G1350D" "" "Germline" "?" "" "0" "" "" "g.49211982C>T" "" "likely pathogenic" "ACMG" "0000812593" "21" "70" "X" "49083487" "49083487" "subst" "0" "00000" "CACNA1F_000422" "g.49083487C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1221C>T, p.(Trp407*)" "error in annotation: c.1221C>T instead of G>A, hemizygous" "Germline" "yes" "" "0" "" "" "g.49227025C>T" "" "likely pathogenic" "" "0000812792" "21" "70" "X" "49068746" "49068746" "subst" "0" "00000" "CACNA1F_000420" "g.49068746A>G" "" "{PMID:Wang 2019:31106028}" "" "c.3998A>G, p.(Leu1333Pro)" "error in annotation: c.3998A>G instead of T>C, hemizygous" "Germline" "yes" "" "0" "" "" "g.49212286A>G" "" "likely pathogenic" "" "0000812834" "0" "70" "X" "49075127" "49075127" "subst" "0" "00000" "CACNA1F_000421" "g.49075127A>G" "" "{PMID:Wang 2019:31106028}" "" "c.2834A>G, p.(Leu945Pro)" "error in annotation: c.2834A>G instead of T>C, hemizygous" "Germline" "?" "" "0" "" "" "g.49218668A>G" "" "likely pathogenic" "" "0000813019" "0" "70" "X" "49067561" "49067561" "subst" "0" "00000" "CACNA1F_000092" "g.49067561C>T" "" "{PMID:Ehrenberg 2019:31814694}" "" "CACNA1F (NM_005183; OMIM: 300110): c.4294-9G>A (IVS36-9G>A) (CSNB), ?/(single kidney)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.49211101C>T" "" "likely pathogenic" "" "0000813656" "20" "90" "X" "49081447" "49081447" "subst" "0" "00000" "CACNA1F_000423" "g.49081447C>T" "" "{PMID:Xu 2020:31630094}" "" "CACNA1F NM_001256789: g.8420G>A, c.1686G>A, p.T562T" "" "Germline" "yes" "" "0" "" "" "g.49224985C>T" "" "pathogenic" "ACMG" "0000814966" "21" "70" "X" "49084537" "49084537" "subst" "0" "00000" "CACNA1F_000426" "g.49084537G>A" "" "{PMID:Birtel 2020:32013026}" "" "CACNA1F c.1079C>T, p.(Ser360Phe)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.49228075G>A" "" "likely pathogenic" "" "0000814969" "21" "70" "X" "49084537" "49084537" "subst" "0" "00000" "CACNA1F_000426" "g.49084537G>A" "" "{PMID:Birtel 2020:32013026}" "" "CACNA1F c.1079C>T, p.(Ser360Phe)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.49228075G>A" "" "likely pathogenic" "" "0000815495" "0" "50" "X" "49087700" "49087700" "subst" "3.58128E-5" "00000" "CACNA1F_000427" "g.49087700G>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CACNA1F:NM_005183 c.C345G, p.F115L" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.49231238G>C" "" "VUS" "ACMG" "0000815539" "0" "50" "X" "49076221" "49076229" "dup" "0" "00000" "CACNA1F_000425" "g.49076221_49076229dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CACNA1F:NM_005183 c.2466_2474dup, p.E823_E825dup" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.49219762_49219770dup" "" "VUS" "ACMG" "0000815557" "0" "50" "X" "49070704" "49070704" "subst" "0" "00000" "CACNA1F_000424" "g.49070704T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CACNA1F:NM_005183 c.A3656G, p.N1219S" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.49214244T>C" "" "VUS" "ACMG" "0000815569" "0" "50" "X" "49076221" "49076229" "dup" "0" "00000" "CACNA1F_000425" "g.49076221_49076229dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CACNA1F:NM_005183 c.2466_2474dup, p.E823_E825dup" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.49219762_49219770dup" "" "VUS" "ACMG" "0000816073" "0" "90" "X" "49082518" "49082518" "subst" "0" "00000" "CACNA1F_000296" "g.49082518G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "CACNA1F c.1537C>T, p.Arg513Ter" "" "Unknown" "?" "" "0" "" "" "g.49226056G>A" "" "pathogenic" "" "0000816110" "0" "90" "X" "49074961" "49074961" "subst" "0" "00000" "CACNA1F_000182" "g.49074961G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "CACNA1F c.2914C>T, p.Arg972Ter" "Closest variant in ClinVar is c.2905C>T (p.Arg969Ter) which is Pathogenic," "Unknown" "?" "" "0" "" "" "g.49218502G>A" "" "pathogenic" "" "0000817652" "20" "70" "X" "49088171" "49088171" "subst" "0" "00000" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Zanolli 2020:32141364}" "" "CACNA1F c.244C>T" "no protein change given, probably hemizygous (gender unknown)" "Unknown" "?" "" "0" "" "" "g.49231709G>A" "" "likely pathogenic" "" "0000819616" "1" "70" "X" "49087437" "49087437" "subst" "0" "00000" "CACNA1F_000331" "g.49087437G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CACNA1F, variant 1: c.396C>A/p.Y132*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.49230975G>T" "" "likely pathogenic" "" "0000819617" "1" "70" "X" "49087437" "49087437" "subst" "0" "00000" "CACNA1F_000331" "g.49087437G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CACNA1F, variant 1: c.396C>A/p.Y132*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.49230975G>T" "" "likely pathogenic" "" "0000819657" "1" "70" "X" "49084859" "49084859" "subst" "0" "00000" "CACNA1F_000189" "g.49084859G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CACNA1F, variant 1: c.868C>T/p.R290C" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.49228397G>A" "" "likely pathogenic" "" "0000819693" "1" "70" "X" "49084497" "49084497" "subst" "0" "00000" "CACNA1F_000431" "g.49084497C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "CACNA1F, variant 1: c.1118+1G>C/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.49228035C>G" "" "likely pathogenic" "" "0000819694" "1" "70" "X" "49084497" "49084497" "subst" "0" "00000" "CACNA1F_000431" "g.49084497C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "CACNA1F, variant 1: c.1118+1G>C/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.49228035C>G" "" "likely pathogenic" "" "0000819715" "1" "70" "X" "49079299" "49079299" "subst" "0" "00000" "CACNA1F_000284" "g.49079299T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CACNA1F, variant 1: c.2119-2A>G/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.49222840T>C" "" "likely pathogenic" "" "0000819716" "1" "70" "X" "49079299" "49079299" "subst" "0" "00000" "CACNA1F_000284" "g.49079299T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CACNA1F, variant 1: c.2119-2A>G/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.49222840T>C" "" "likely pathogenic" "" "0000819717" "1" "70" "X" "49079299" "49079299" "subst" "0" "00000" "CACNA1F_000284" "g.49079299T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CACNA1F, variant 1: c.2119-2A>G/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.49222840T>C" "" "likely pathogenic" "" "0000819722" "1" "70" "X" "49063072" "49063072" "subst" "0" "00000" "CACNA1F_000428" "g.49063072G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CACNA1F, variant 1: c.5405C>T/p.S1802F" "possibly solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.49206611G>A" "" "likely pathogenic" "" "0000821174" "20" "70" "X" "49083135" "49083136" "ins" "0" "00000" "CACNA1F_000430" "g.49083135_49083136insA" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.1338_1339insT, p.Arg447Ter" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49226673_49226674insA" "" "likely pathogenic" "" "0000821175" "20" "70" "X" "49069216" "49069216" "subst" "0" "00000" "CACNA1F_000228" "g.49069216G>A" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.3886C>T, p.Arg1296Cys" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49212756G>A" "" "likely pathogenic" "" "0000821176" "20" "70" "X" "49067096" "49067096" "subst" "0" "00000" "CACNA1F_000209" "g.49067096G>A" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.4472C>T, p.Pro1491Leu" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49210636G>A" "" "likely pathogenic" "" "0000821177" "20" "70" "X" "49071931" "49071932" "del" "0" "00000" "CACNA1F_000248" "g.49071931_49071932del" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.3341_3342delCA, p.Ser1114CysfsTer38" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49215471_49215472del" "" "likely pathogenic" "" "0000821178" "20" "70" "X" "49086715" "49086715" "subst" "0" "00000" "CACNA1F_000321" "g.49086715G>A" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.784C>T, p.Arg262Ter" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49230253G>A" "" "likely pathogenic" "" "0000821179" "20" "90" "X" "49074970" "49074970" "subst" "0" "00000" "CACNA1F_000034" "g.49074970G>A" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.2905C>T, p.Arg969Ter" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49218511G>A" "" "pathogenic" "" "0000821180" "20" "70" "X" "49084780" "49084782" "del" "0" "00000" "CACNA1F_000174" "g.49084780_49084782del" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.952_954delTTC, p.Phe318del" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49228318_49228320del" "" "likely pathogenic" "" "0000821181" "20" "90" "X" "49082516" "49082520" "del" "0" "00000" "CACNA1F_000295" "g.49082516_49082520del" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.1538_1542delGAGCC, p.Arg513GlnfsTer35" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49226054_49226058del" "" "pathogenic" "" "0000821182" "20" "70" "X" "49072898" "49072898" "subst" "0" "00000" "CACNA1F_000251" "g.49072898A>C" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.3213T>G, p.Asn1071Lys" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49216438A>C" "" "likely pathogenic" "" "0000821183" "20" "70" "X" "49082866" "49082903" "del" "0" "00000" "CACNA1F_000429" "g.49082866_49082903del" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.1466_1496+7delAGGGGGCTCTGGCCAGCTGTACACGCTGCCTGTGAGGG," "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49226404_49226441del" "" "likely pathogenic" "" "0000821184" "20" "70" "X" "49071548" "49071548" "subst" "0" "00000" "CACNA1F_000234" "g.49071548G>A" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.3628C>T, p.Gln1210Ter" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49215088G>A" "" "likely pathogenic" "" "0000821185" "20" "70" "X" "49075340" "49075340" "subst" "0" "00000" "CACNA1F_000269" "g.49075340C>T" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.2766+1G>A," "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49218881C>T" "" "likely pathogenic" "" "0000821186" "20" "90" "X" "49083490" "49083490" "del" "0" "00000" "CACNA1F_000301" "g.49083490del" "" "{PMID:Turro 2020:32581362}" "" "CACNA1F c.1218delC, p.Trp407GlyfsTer37" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49227028del" "" "pathogenic" "" "0000822677" "20" "70" "X" "49075190" "49075191" "del" "0" "00000" "CACNA1F_000268" "g.49075190_49075191del" "" "{PMID:Gliem 2020:32646556}" "" "CACNA1F c.2771_2772del, p.Thr924Serfs*" "hemizygous" "Unknown" "?" "" "0" "" "" "g.49218731_49218732del" "" "likely pathogenic" "" "0000823208" "20" "50" "X" "49084859" "49084859" "subst" "0" "00000" "CACNA1F_000189" "g.49084859G>A" "" "{PMID:Hull 2020:32856788}" "" "CACNA1F nucleotide 1, protein 1:c.868C>T, p.Arg290Cys" "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.49228397G>A" "" "VUS" "" "0000823209" "20" "50" "X" "49079435" "49079435" "subst" "0" "00000" "CACNA1F_000162" "g.49079435G>A" "" "{PMID:Hull 2020:32856788}" "" "CACNA1F nucleotide 1, protein 1:c.2071C>T, p.Arg691*" "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.49222976G>A" "" "VUS" "" "0000823210" "20" "50" "X" "49079035" "49079035" "subst" "0" "00000" "CACNA1F_000434" "g.49079035A>G" "" "{PMID:Hull 2020:32856788}" "" "CACNA1F nucleotide 1, protein 1:c.2267T>C, p.Ile756Thr" "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.49222576A>G" "" "VUS" "" "0000823211" "20" "90" "X" "49075837" "49075837" "dup" "0" "00000" "CACNA1F_000433" "g.49075837dup" "" "{PMID:Hull 2020:32856788}" "" "CACNA1F nucleotide 1, protein 1:c.2649dupC, p.Ser884Glnfs*8" "hemizygous, ACMG classified, novel (Table 2)" "Germline" "?" "" "0" "" "" "g.49219378dup" "" "pathogenic" "ACMG" "0000823212" "20" "50" "X" "49074418" "49074420" "del" "0" "00000" "CACNA1F_000256" "g.49074418_49074420del" "" "{PMID:Hull 2020:32856788}" "" "CACNA1F nucleotide 1, protein 1:c.3009_11delCAT, p.Ile1003Met" "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.49217959_49217961del" "" "VUS" "" "0000823213" "20" "90" "X" "49066504" "49066504" "subst" "0" "00000" "CACNA1F_000432" "g.49066504T>A" "" "{PMID:Hull 2020:32856788}" "" "CACNA1F nucleotide 1, protein 1:c.4622-2A>T, p.? nucleotide 2, protein 2:-," "hemizygous, ACMG classified, novel (Table 2)" "Germline" "?" "" "0" "" "" "g.49210044T>A" "" "pathogenic" "ACMG" "0000824677" "3" "50" "X" "49079494" "49079494" "subst" "0.00170959" "00000" "CACNA1F_000062" "g.49079494G>C" "" "{PMID:Ma 2021:33691693}" "" "CACNA1F c.C2012G, p.S671C" "marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.49223035G>C" "" "VUS" "ACMG" "0000824710" "3" "50" "X" "49079494" "49079494" "subst" "0.00170959" "00000" "CACNA1F_000062" "g.49079494G>C" "" "{PMID:Ma 2021:33691693}" "" "CACNA1F c.C2012G, p.S671C" "marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.49223035G>C" "" "VUS" "ACMG" "0000826272" "20" "70" "X" "49075403" "49075403" "subst" "0" "00000" "CACNA1F_000435" "g.49075403G>A" "" "{PMID:Liu-2020:33090715}" "" "c.2707-3C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000827004" "0" "70" "X" "49081449" "49081449" "subst" "0" "00000" "CACNA1F_000436" "g.49081449C>G" "" "{PMID:Thorsteinsson 2021:33851411}" "" "CACNA1F c.1685-1G>C," "hemizygous" "Unknown" "?" "" "0" "" "" "g.49224987C>G" "" "likely pathogenic" "" "0000827005" "0" "70" "X" "49081449" "49081449" "subst" "0" "00000" "CACNA1F_000436" "g.49081449C>G" "" "{PMID:Thorsteinsson 2021:33851411}" "" "CACNA1F c.1685-1G>C," "hemizygous" "Unknown" "?" "" "0" "" "" "g.49224987C>G" "" "likely pathogenic" "" "0000827006" "0" "70" "X" "49081449" "49081449" "subst" "0" "00000" "CACNA1F_000436" "g.49081449C>G" "" "{PMID:Thorsteinsson 2021:33851411}" "" "CACNA1F c.1685-1G>C," "hemizygous" "Unknown" "?" "" "0" "" "" "g.49224987C>G" "" "likely pathogenic" "" "0000828867" "20" "90" "X" "49069233" "49069234" "del" "0" "00000" "CACNA1F_000437" "g.49069233_49069234del" "" "{PMID:Chen 2021:43360855}" "" "CACNA1F c.[3868_3869del];[0], V1: c.3868_3869delAT, (p.Met1290AlafsTer8)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.49212773_49212774del" "" "pathogenic" "ACMG" "0000829962" "0" "50" "X" "49071939" "49071939" "subst" "0" "00000" "CACNA1F_000439" "g.49071939C>A" "" "{PMID:Numa-2020:33247286}" "" "c.3334G>T:p.E1112X" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000829963" "0" "50" "X" "49071927" "49071927" "subst" "0" "00000" "CACNA1F_000438" "g.49071927A>C" "" "{PMID:Numa-2020:33247286}" "" "c.3346T>G:p.F1116V" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000836583" "1" "70" "X" "49079191" "49079191" "subst" "0" "00006" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.49222732A>C" "" "likely pathogenic" "" "0000840218" "0" "90" "X" "49070438" "49070862" "del" "0" "00000" "CACNA1F_000448" "g.49070438_49070862del" "" "{PMID:Jalkanen-2007:17525176}" "" "IVS3-S4" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840219" "0" "90" "X" "49071705" "49071705" "del" "0" "00000" "CACNA1F_000451" "g.49071705del" "0/200 controls" "{PMID:Jalkanen-2006:16505158}" "" "IVS28-1 GCGTC>TGG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840220" "20" "90" "X" "49081326" "49081326" "subst" "0" "00000" "CACNA1F_000461" "g.49081326C>G" "0/360 controls" "{PMID:Vincent-2011:22194652}" "" "c.1807G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840221" "20" "90" "X" "49081326" "49081326" "subst" "0" "00000" "CACNA1F_000461" "g.49081326C>G" "0/360 controls" "{PMID:Vincent-2011:22194652}" "" "c.1807G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840222" "10" "90" "X" "49081326" "49081326" "subst" "0" "00000" "CACNA1F_000461" "g.49081326C>G" "0/360 controls" "{PMID:Vincent-2011:22194652}" "" "c.1807G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840223" "20" "90" "X" "49072945" "49072945" "dup" "0" "00000" "CACNA1F_000254" "g.49072945dup" "" "{PMID:Vincent-2012:22744390}" "" "c.3166insC/ p.Leu1056Profs 11" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840224" "0" "70" "X" "49066834" "49066834" "del" "0" "00000" "CACNA1F_000443" "g.49066834del" "" "{PMID:Jacobi-2003:12719097}" "" "c.4548del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000840225" "21" "90" "X" "49079182" "49079182" "subst" "0" "00000" "CACNA1F_000458" "g.49079182A>G" "" "{PMID:Hemara-Wahanui-2005:15897456}" "" "2234T>C (I745T)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840226" "0" "90" "X" "49072987" "49077537" "del" "0" "00000" "CACNA1F_000454" "g.49072987_49077537del" "" "{PMID:Hauke-2013:24124559}" "" "Exons 18-26 absent / 775-1041 (267 amino acids del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840227" "0" "90" "X" "49072987" "49077537" "del" "0" "00000" "CACNA1F_000454" "g.49072987_49077537del" "" "{PMID:Hauke-2013:24124559}" "" "Exons 18-26 absent / 775-1041 (267 amino acids del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840228" "0" "90" "X" "49072987" "49077537" "del" "0" "00000" "CACNA1F_000454" "g.49072987_49077537del" "" "{PMID:Hauke-2013:24124559}" "" "Exons 18-26 absent / 775-1041 (267 amino acids del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840229" "0" "90" "X" "49072987" "49077537" "del" "0" "00000" "CACNA1F_000454" "g.49072987_49077537del" "" "{PMID:Hauke-2013:24124559}" "" "Exons 18-26 absent / 775-1041 (267 amino acids del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840230" "0" "90" "X" "49084510" "49084510" "subst" "0" "00000" "CACNA1F_000304" "g.49084510C>T" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.1106G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840231" "0" "90" "X" "49082679" "49082679" "subst" "0" "00000" "CACNA1F_000463" "g.49082679C>T" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.1523G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840232" "0" "90" "X" "49082679" "49082679" "subst" "0" "00000" "CACNA1F_000463" "g.49082679C>T" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.1523G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840233" "0" "90" "X" "49079244" "49079244" "subst" "0" "00000" "CACNA1F_000459" "g.49079244G>A" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.2172C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840234" "0" "90" "X" "49072978" "49072978" "dup" "0" "00000" "CACNA1F_000453" "g.49072978dup" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.3133insC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840235" "0" "90" "X" "49072966" "49072966" "subst" "0" "00000" "CACNA1F_000452" "g.49072966G>A" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.3145C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840236" "0" "90" "X" "49070691" "49070702" "del" "0" "00000" "CACNA1F_000450" "g.49070691_49070702del" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.3658-3669del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840237" "0" "90" "X" "49068449" "49068449" "subst" "0" "00000" "CACNA1F_000446" "g.49068449G>A" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.4042C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840238" "0" "90" "X" "49068400" "49068400" "subst" "0" "00000" "CACNA1F_000445" "g.49068400A>T" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.4091T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840239" "0" "90" "X" "49066172" "49066172" "subst" "0" "00000" "CACNA1F_000441" "g.49066172T>A" "" "{PMID:Strom-1998:09662399}" "" "AJ224874: c.4771A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840240" "21" "90" "X" "49082500" "49082500" "subst" "0" "00000" "CACNA1F_000462" "g.49082500G>A" "" "{PMID:Zhou-2015:26075273}" "" "c.1555C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840241" "21" "90" "X" "49084761" "49084761" "subst" "0" "00000" "CACNA1F_000464" "g.49084761C>T" "" "{PMID:Men-2017:29062221}" "" "c.966 G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840246" "21" "90" "X" "49067081" "49067081" "subst" "0" "00000" "CACNA1F_000163" "g.49067081C>T" "" "{PMID:Men-2017:29062221}" "" "c.4487G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840249" "3" "90" "X" "49070278" "49070278" "subst" "0" "00000" "CACNA1F_000447" "g.49070278C>T" "" "{PMID:Preising-2018:30186847}" "" "c.3825+1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840250" "3" "90" "X" "49070278" "49070278" "subst" "0" "00000" "CACNA1F_000447" "g.49070278C>T" "" "{PMID:Preising-2018:30186847}" "" "c.3825+1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840251" "21" "90" "X" "49079191" "49079191" "subst" "0" "00000" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Kimchi-2019:31651202}" "" "NM_001256789.2: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840252" "0" "90" "X" "49079191" "49079191" "subst" "0" "00000" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Kimchi-2019:31651202}" "" "NM_001256789.2: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840253" "0" "90" "X" "49079191" "49079191" "subst" "0" "00000" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Kimchi-2019:31651202}" "" "NM_001256789.2: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840254" "0" "90" "X" "49079191" "49079191" "subst" "0" "00000" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Kimchi-2019:31651202}" "" "NM_001256789.2: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840255" "0" "90" "X" "49079191" "49079191" "subst" "0" "00000" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Kimchi-2019:31651202}" "" "NM_001256789.2: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840256" "21" "90" "X" "49079191" "49079191" "subst" "0" "00000" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Kimchi-2019:31651202}" "" "NM_001256789.2: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840257" "0" "90" "X" "49079191" "49079191" "subst" "0" "00000" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Kimchi-2019:31651202}" "" "NM_001256789.2: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840258" "21" "90" "X" "49079191" "49079191" "subst" "0" "00000" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Kimchi-2019:31651202}" "" "NM_001256789.2: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840259" "0" "90" "X" "49079191" "49079191" "subst" "0" "00000" "CACNA1F_000440" "g.49079191A>C" "" "{PMID:Kimchi-2019:31651202}" "" "NM_001256789.2: c.2225T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840260" "0" "90" "X" "49088382" "49088382" "del" "0" "00000" "CACNA1F_000465" "g.49088382del" "" "{PMID:Bech-Hansen-1998:09662400}" "" "AF067227: D341delC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840261" "0" "90" "X" "49076181" "49076181" "subst" "0" "00000" "CACNA1F_000457" "g.49076181G>A" "" "{PMID:Bech-Hansen-1998:09662400}" "" "AF067227: R830X" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840262" "21" "90" "X" "49088382" "49088382" "del" "0" "00000" "CACNA1F_000465" "g.49088382del" "" "{PMID:Bech-Hansen-1998:09662400}" "" "AF067227: L991insC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840263" "3" "90" "X" "49088382" "49088382" "del" "0" "00000" "CACNA1F_000465" "g.49088382del" "" "{PMID:Bech-Hansen-1998:09662400}" "" "AF067227: L991insC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840264" "0" "90" "X" "49088382" "49088382" "del" "0" "00000" "CACNA1F_000465" "g.49088382del" "" "{PMID:Bech-Hansen-1998:09662400}" "" "AF067227: I1159delC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840265" "0" "90" "X" "49070660" "49070660" "subst" "0" "00000" "CACNA1F_000449" "g.49070660G>A" "" "{PMID:Bech-Hansen-1998:09662400}" "" "AF067227: R1234X" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840266" "0" "90" "X" "49067918" "49067918" "subst" "0" "00000" "CACNA1F_000444" "g.49067918C>T" "" "{PMID:Bech-Hansen-1998:09662400}" "" "AF067227: W1386X" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840267" "0" "90" "X" "49086735" "49086735" "subst" "0" "00000" "CACNA1F_000322" "g.49086735C>T" "0/192 controls" "{PMID:Michalakis-2014:24163243}" "" "AJ006216: c.764G.A, p.Gly255Glu" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840268" "0" "90" "X" "49079416" "49079416" "subst" "0" "00000" "CACNA1F_000460" "g.49079416A>G" "0/192 controls" "{PMID:Michalakis-2014:24163243}" "" "AJ006216: c.2090T.C, p.Leu697Pro" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840269" "0" "90" "X" "49075140" "49075140" "dup" "0" "00000" "CACNA1F_000456" "g.49075140dupG" "0/192 controls" "{PMID:Michalakis-2014:24163243}" "" "AJ006216: c.2821dupC, p.Leu941Profs?115" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840270" "0" "90" "X" "49066833" "49066835" "delins" "0" "00000" "CACNA1F_000442" "g.49066833_49066835delinsGG" "0/192 controls" "{PMID:Michalakis-2014:24163243}" "" "AJ006216: c.4547_4549delinsCC, p.Leu1516Profs?9" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840271" "0" "90" "X" "49074946" "49074946" "subst" "0" "00000" "CACNA1F_000455" "g.49074946C>T" "0/192 controls" "{PMID:Michalakis-2014:24163243}" "" "AJ006216: c.2928+1G>A" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841458" "0" "90" "X" "49088267" "49088267" "subst" "0" "00000" "CACNA1F_000340" "g.49088267G>A" "" "{PMID:Boycott 2001:11281458}" "" "148C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841459" "0" "90" "X" "49088171" "49088171" "subst" "0" "00000" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Boycott 2001:11281458}" "" "244C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841460" "0" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Boycott 2001:11281458}" "" "del/insnet30bp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841461" "0" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Boycott 2001:11281458}" "" "del/insnet30bp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841462" "0" "90" "X" "49087073" "49087073" "subst" "0" "00000" "CACNA1F_000469" "g.49087073T>C" "" "{PMID:Boycott 2001:11281458}" "" "IVS4-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841463" "0" "90" "X" "49084773" "49084775" "del" "0" "00000" "CACNA1F_000174" "g.49084773_49084775del" "" "{PMID:Boycott 2001:11281458}" "" "951_953delCTT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841464" "0" "90" "X" "49084510" "49084510" "subst" "0" "00000" "CACNA1F_000304" "g.49084510C>T" "" "{PMID:Boycott 2001:11281458}" "" "1106G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841465" "0" "90" "X" "49081260" "49081260" "subst" "0" "00000" "CACNA1F_000178" "g.49081260G>A" "" "{PMID:Boycott 2001:11281458}" "" "1873C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841466" "0" "90" "X" "49079485" "49079485" "subst" "0" "00000" "CACNA1F_000389" "g.49079485C>T" "" "{PMID:Boycott 2001:11281458}" "" "2021G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841467" "0" "90" "X" "49075803" "49075803" "subst" "0" "00000" "CACNA1F_000087" "g.49075803G>A" "" "{PMID:Boycott 2001:11281458}" "" "2683C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841468" "0" "90" "X" "49075178" "49075178" "subst" "0" "00000" "CACNA1F_000177" "g.49075178G>T" "" "{PMID:Boycott 2001:11281458}" "" "2783C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841469" "0" "90" "X" "49074913" "49074913" "subst" "0" "00000" "CACNA1F_000258" "g.49074913C>T" "" "{PMID:Boycott 2001:11281458}" "" "IVS24+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841470" "0" "90" "X" "49074415" "49074417" "del" "0" "00000" "CACNA1F_000256" "g.49074415_49074417del" "" "{PMID:Boycott 2001:11281458}" "" "3006_3008delCAT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841471" "0" "90" "X" "49075178" "49075178" "subst" "0" "00000" "CACNA1F_000177" "g.49075178G>T" "" "{PMID:Boycott 2001:11281458}" "" "3125delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841472" "0" "90" "X" "49066221" "49066221" "subst" "0" "00000" "CACNA1F_000466" "g.49066221T>C" "" "{PMID:Boycott 2001:11281458}" "" "IVS40-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841473" "0" "90" "X" "49062081" "49062081" "del" "0" "00000" "CACNA1F_000191" "g.49062081del" "" "{PMID:Boycott 2001:11281458}" "" "5665delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841474" "20" "30" "X" "49081291" "49081291" "subst" "0.366298" "00000" "CACNA1F_000002" "g.49081291G>A" "60/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: C1647T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841475" "20" "30" "X" "49081291" "49081291" "subst" "0.366298" "00000" "CACNA1F_000002" "g.49081291G>A" "60/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: C1647T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841476" "20" "30" "X" "49081291" "49081291" "subst" "0.366298" "00000" "CACNA1F_000002" "g.49081291G>A" "60/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: C1647T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841477" "20" "30" "X" "49071964" "49071964" "subst" "0.410528" "00000" "CACNA1F_000005" "g.49071964A>G" "63/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: T3114C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841478" "20" "30" "X" "49071964" "49071964" "subst" "0.410528" "00000" "CACNA1F_000005" "g.49071964A>G" "63/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: T3114C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841479" "20" "30" "X" "49071964" "49071964" "subst" "0.410528" "00000" "CACNA1F_000005" "g.49071964A>G" "63/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: T3114C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841480" "20" "30" "X" "49081291" "49081291" "subst" "0.366298" "00000" "CACNA1F_000002" "g.49081291G>A" "60/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: C1647T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841481" "20" "30" "X" "49071964" "49071964" "subst" "0.410528" "00000" "CACNA1F_000005" "g.49071964A>G" "63/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: T3114C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841482" "20" "30" "X" "49081291" "49081291" "subst" "0.366298" "00000" "CACNA1F_000002" "g.49081291G>A" "60/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: C1647T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841483" "20" "30" "X" "49071964" "49071964" "subst" "0.410528" "00000" "CACNA1F_000005" "g.49071964A>G" "63/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: T3114C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841484" "20" "30" "X" "49061742" "49061742" "subst" "0.0984974" "00000" "CACNA1F_000007" "g.49061742C>T" "21/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: G5594A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841485" "20" "30" "X" "49081291" "49081291" "subst" "0.366298" "00000" "CACNA1F_000002" "g.49081291G>A" "60/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: C1647T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841486" "20" "30" "X" "49071964" "49071964" "subst" "0.410528" "00000" "CACNA1F_000005" "g.49071964A>G" "63/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: T3114C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841487" "20" "90" "X" "49079485" "49079485" "subst" "0" "00000" "CACNA1F_000389" "g.49079485C>T" "0/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: G1826A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841488" "20" "90" "X" "49079485" "49079485" "subst" "0" "00000" "CACNA1F_000389" "g.49079485C>T" "0/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: G1826A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841489" "20" "90" "X" "49079485" "49079485" "subst" "0" "00000" "CACNA1F_000389" "g.49079485C>T" "0/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: G1826A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841490" "20" "90" "X" "49084822" "49084823" "ins" "0" "00000" "CACNA1F_000468" "g.49084822_49084823insC" "0/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: 709insG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841491" "20" "90" "X" "49074943" "49074943" "subst" "0" "00000" "CACNA1F_000259" "g.49074943G>A" "0/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: C2737T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841492" "20" "90" "X" "49075340" "49075340" "subst" "0" "00000" "CACNA1F_000384" "g.49075340C>G" "0/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: 2571+1GtoC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841493" "20" "90" "X" "49087364" "49087367" "delins" "0" "00000" "CACNA1F_000470" "g.49087364_49087367delins(34)" "0/100 controls" "{PMID:Nakamura 2001:11381068}" "" "AJ006216: 271–274del/ins34bp" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841494" "0" "70" "X" "49088260" "49088264" "del" "0" "00000" "CACNA1F_000471" "g.49088260_49088264del5" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:151del5" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841495" "0" "70" "X" "49088195" "49088195" "subst" "0" "00000" "CACNA1F_000011" "g.49088195A>G" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:220T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841496" "0" "70" "X" "49088171" "49088171" "subst" "0" "00000" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:244C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841497" "0" "70" "X" "49088171" "49088171" "subst" "0" "00000" "CACNA1F_000175" "g.49088171G>A" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:244C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841498" "0" "70" "X" "49086814" "49086814" "subst" "0" "00000" "CACNA1F_000324" "g.49086814A>G" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:685T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841499" "0" "70" "X" "49086718" "49086718" "subst" "0" "00000" "CACNA1F_000394" "g.49086718C>T" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:781G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841500" "0" "70" "X" "49083159" "49083159" "subst" "0" "00000" "CACNA1F_000390" "g.49083159G>A" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:1282C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841501" "0" "70" "X" "49081260" "49081260" "subst" "0" "00000" "CACNA1F_000178" "g.49081260G>A" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:1840C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841502" "0" "70" "X" "49079044" "49079044" "subst" "0" "00000" "CACNA1F_000170" "g.49079044A>C" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:2225T>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841503" "0" "70" "X" "49076250" "49076250" "subst" "0" "00000" "CACNA1F_000388" "g.49076250C>G" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:2387-1G>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841504" "0" "70" "X" "49075907" "49075907" "subst" "0" "00000" "CACNA1F_000387" "g.49075907A>G" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:2546T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841505" "0" "70" "X" "49075777" "49075777" "subst" "0.0430974" "00000" "CACNA1F_000386" "g.49075777C>T" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:2673+3G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841506" "0" "70" "X" "49075777" "49075777" "subst" "0.0430974" "00000" "CACNA1F_000386" "g.49075777C>T" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:2673+3G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841507" "0" "70" "X" "49075402" "49075403" "del" "0" "00000" "CACNA1F_000385" "g.49075402_49075403delTG" "" "{PMID:Wutz 2002:12111638}" "" "AF235097: 2674-2_2674-3delCA" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841508" "0" "70" "X" "49074374" "49074374" "subst" "0" "00000" "CACNA1F_000154" "g.49074374C>T" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:3019G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841509" "0" "70" "X" "49072875" "49072875" "subst" "0" "00000" "CACNA1F_000379" "g.49072875A>G" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:3203T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841510" "0" "70" "X" "49070658" "49070669" "del" "0" "00000" "CACNA1F_000467" "g.49070658_49070669del" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:3658del12" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841511" "0" "70" "X" "49069207" "49069207" "subst" "0" "00000" "CACNA1F_000112" "g.49069207G>A" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:3862C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841512" "0" "70" "X" "49069125" "49069125" "subst" "0" "00000" "CACNA1F_000374" "g.49069125A>G" "" "{PMID:Wutz 2002:12111638}" "" "AF235097: 3942+2(T>C)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841513" "0" "70" "X" "49069125" "49069125" "subst" "0" "00000" "CACNA1F_000375" "g.49069125A>T" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:3942+2T>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841514" "0" "70" "X" "49067942" "49067942" "subst" "0" "00000" "CACNA1F_000220" "g.49067942C>G" "" "{PMID:Wutz 2002:12111638}" "" "AF235097: 4101-1(G>C)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841515" "0" "70" "X" "49067073" "49067073" "subst" "0" "00000" "CACNA1F_000371" "g.49067073A>G" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:4462T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841516" "0" "70" "X" "49067069" "49067069" "subst" "0" "00000" "CACNA1F_000370" "g.49067069G>C" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:4466C>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841517" "0" "70" "X" "49067069" "49067069" "subst" "0" "00000" "CACNA1F_000370" "g.49067069G>C" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:4466C>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841518" "0" "70" "X" "49066859" "49066859" "subst" "0" "00000" "CACNA1F_000204" "g.49066859A>G" "" "{PMID:Wutz 2002:12111638}" "" "AF235097:4490T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841519" "21" "70" "X" "49062998" "49062998" "subst" "5.60083E-6" "00000" "CACNA1F_000101" "g.49062998G>A" "" "{PMID:Wutz 2002:12111638}, {PMID:Kim 2021:34064005}" "" "AF235097:5446C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000841520" "20" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Wutz 2002:12111638}" "" "R1171P" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000856668" "0" "50" "X" "49056641" "49056641" "subst" "0.00012131" "01943" "CACNA1F_000472" "g.49056641A>T" "" "" "" "SYP(NM_003179.2):c.5T>A (p.L2Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856669" "0" "50" "X" "49061777" "49061777" "subst" "0" "01943" "CACNA1F_000473" "g.49061777C>T" "" "" "" "CACNA1F(NM_005183.3):c.5754G>A (p.V1918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856670" "0" "50" "X" "49062227" "49062227" "subst" "0" "01943" "CACNA1F_000474" "g.49062227G>A" "" "" "" "CACNA1F(NM_005183.3):c.5552C>T (p.P1851L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856671" "0" "50" "X" "49066788" "49066788" "subst" "0" "01943" "CACNA1F_000476" "g.49066788G>T" "" "" "" "CACNA1F(NM_005183.3):c.4594C>A (p.R1532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856672" "0" "50" "X" "49075124" "49075124" "subst" "0" "01943" "CACNA1F_000478" "g.49075124A>G" "" "" "" "CACNA1F(NM_005183.3):c.2837T>C (p.L946P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856673" "0" "50" "X" "49083125" "49083125" "subst" "0" "01943" "CACNA1F_000480" "g.49083125C>T" "" "" "" "CACNA1F(NM_005183.3):c.1349G>A (p.R450H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856674" "0" "30" "X" "49088325" "49088325" "subst" "7.70363E-5" "01943" "CACNA1F_000483" "g.49088325G>A" "" "" "" "CACNA1F(NM_005183.3):c.90C>T (p.P30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867426" "0" "30" "X" "49066754" "49066754" "subst" "8.95526E-5" "01943" "CACNA1F_000475" "g.49066754C>T" "" "" "" "CACNA1F(NM_005183.3):c.4621+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867427" "0" "50" "X" "49067820" "49067820" "subst" "3.91593E-5" "02325" "CACNA1F_000477" "g.49067820C>T" "" "" "" "CACNA1F(NM_005183.4):c.4255G>A (p.A1419T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867428" "0" "50" "X" "49075151" "49075151" "subst" "0.000118371" "01943" "CACNA1F_000117" "g.49075151C>T" "" "" "" "CACNA1F(NM_001256789.1):c.2777G>A (p.(Arg926His)), CACNA1F(NM_005183.3):c.2810G>A (p.R937H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867429" "0" "50" "X" "49082494" "49082494" "subst" "0.000363261" "01943" "CACNA1F_000479" "g.49082494G>A" "" "" "" "CACNA1F(NM_005183.3):c.1561C>T (p.R521C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867430" "0" "50" "X" "49083519" "49083519" "subst" "0" "01943" "CACNA1F_000481" "g.49083519T>C" "" "" "" "CACNA1F(NM_005183.3):c.1189A>G (p.M397V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867431" "0" "50" "X" "49083570" "49083570" "subst" "0" "01943" "CACNA1F_000482" "g.49083570C>G" "" "" "" "CACNA1F(NM_005183.3):c.1138G>C (p.E380Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869988" "20" "70" "X" "49072948" "49072948" "dup" "0" "01164" "CACNA1F_000254" "g.49072948dup" "" "" "" "" "ACMG: PVS1, PP1_STR, PS4_MOD, PM3, PM2_SUP; {PMID:Strom 1998:9662399} {PMID:Boycott 2000:10900517} {PMID:Wutz 2002:12111638}" "Germline" "" "" "0" "" "" "g.49216488dup" "" "pathogenic (recessive)" "ACMG" "0000879043" "21" "90" "X" "49087408" "49087408" "dup" "0" "04385" "CACNA1F_000484" "g.49087408dup" "" "{PMID:Mihalich 2022:35697328}" "" "425dupC" "" "Germline" "" "" "0" "" "" "g.49230946dup" "" "pathogenic" "ACMG" "0000880624" "21" "50" "X" "49061650" "49061650" "subst" "6.19666E-5" "00006" "CACNA1F_000485" "g.49061650G>A" "" "{PMID:Wyrwoll 2022:36150389}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000881416" "1" "50" "X" "49072897" "49072897" "subst" "0" "04405" "CACNA1F_000486" "g.49072897C>G" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "c.3181G>C (Val1061Leu)" "" "Germline" "" "" "0" "" "" "g.49216437C>G" "" "VUS" "ACMG" "0000896268" "0" "30" "X" "49066239" "49066239" "subst" "0.00217694" "02330" "CACNA1F_000487" "g.49066239G>A" "" "" "" "CACNA1F(NM_005183.4):c.4724-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896269" "0" "50" "X" "49071664" "49071664" "subst" "2.24308E-5" "02325" "CACNA1F_000488" "g.49071664C>T" "" "" "" "CACNA1F(NM_005183.4):c.3512G>A (p.R1171H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896270" "0" "30" "X" "49071970" "49071970" "subst" "0.000155462" "02330" "CACNA1F_000053" "g.49071970C>G" "" "" "" "CACNA1F(NM_001256789.1):c.3270G>C (p.(Glu1090Asp)), CACNA1F(NM_005183.4):c.3303G>C (p.E1101D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896271" "0" "30" "X" "49072019" "49072019" "subst" "0.000182324" "02330" "CACNA1F_000489" "g.49072019G>A" "" "" "" "CACNA1F(NM_005183.4):c.3270-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896272" "0" "70" "X" "49074374" "49074374" "subst" "0" "02327" "CACNA1F_000154" "g.49074374C>T" "" "" "" "CACNA1F(NM_005183.3):c.3052G>A (p.G1018R), CACNA1F(NM_005183.4):c.3052G>A (p.G1018R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896273" "0" "50" "X" "49074949" "49074949" "subst" "0" "02327" "CACNA1F_000490" "g.49074949G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896274" "0" "90" "X" "49074961" "49074961" "subst" "0" "02327" "CACNA1F_000182" "g.49074961G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896275" "0" "30" "X" "49076221" "49076229" "del" "0" "02330" "CACNA1F_000059" "g.49076221_49076229del" "" "" "" "CACNA1F(NM_005183.3):c.2466_2474delAGAGGAAGA (p.E823_E825del), CACNA1F(NM_005183.4):c.2466_2474delAGAGGAAGA (p.E823_E825del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896276" "0" "30" "X" "49079494" "49079494" "subst" "0.00170959" "02330" "CACNA1F_000062" "g.49079494G>C" "" "" "" "CACNA1F(NM_005183.3):c.2012C>G (p.S671C), CACNA1F(NM_005183.4):c.2012C>G (p.S671C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896277" "0" "30" "X" "49083151" "49083151" "subst" "0.00070437" "02330" "CACNA1F_000156" "g.49083151G>A" "" "" "" "CACNA1F(NM_005183.3):c.1323C>T (p.A441=), CACNA1F(NM_005183.4):c.1323C>T (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896563" "21" "90" "X" "49069201" "49069202" "del" "0" "00000" "CACNA1F_000437" "g.49069201_49069202del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CACNA1F c.[3868_3869del];[0]; p.(Met1290AlafsTer8)" "different transcript NM_001256789.1:c.3868_3869del, p.(Met1290AlafsTer8); hemizygous" "Germline" "yes" "" "0" "" "" "g.49212741_49212742del" "" "pathogenic" "" "0000905901" "0" "50" "X" "49075852" "49075854" "delins" "0" "00000" "CACNA1F_000491" "g.49075852_49075854delinsTGCTGGGGACACACTGCTGAGGAT" "" "{PMID:Zhu 2022:35456422}" "" "CACNA1F c.2632_2634delinsATCCTCAGCAGTGTGTCCCCAGCA, p.(Leu878delinsIleLeuSerSerValSerProAla)" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49219393_49219395delinsTGCTGGGGACACACTGCTGAGGAT" "" "VUS" "ACMG" "0000915731" "0" "30" "X" "49079179" "49079179" "subst" "0.00152204" "02325" "CACNA1F_000061" "g.49079179T>G" "" "" "" "CACNA1F(NM_001256789.1):c.2204A>C (p.(Asn735Thr)), CACNA1F(NM_005183.3):c.2237A>C (p.N746T), CACNA1F(NM_005183.4):c.2237A>C (p.N746T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927388" "0" "30" "X" "49067032" "49067032" "subst" "0" "02330" "CACNA1F_000492" "g.49067032G>T" "" "" "" "CACNA1F(NM_005183.4):c.4518+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927389" "0" "50" "X" "49068442" "49068442" "subst" "0" "02327" "CACNA1F_000222" "g.49068442C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927390" "0" "50" "X" "49070298" "49070298" "subst" "0" "02325" "CACNA1F_000493" "g.49070298A>G" "" "" "" "CACNA1F(NM_005183.4):c.3806T>C (p.I1269T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927391" "0" "50" "X" "49071930" "49071930" "subst" "0" "02325" "CACNA1F_000494" "g.49071930C>T" "" "" "" "CACNA1F(NM_005183.4):c.3343G>A (p.V1115M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927392" "0" "50" "X" "49083534" "49083534" "subst" "6.20097E-6" "02325" "CACNA1F_000495" "g.49083534G>C" "" "" "" "CACNA1F(NM_005183.4):c.1174C>G (p.R392G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927393" "0" "90" "X" "49087008" "49087008" "del" "0" "02330" "CACNA1F_000496" "g.49087008del" "" "" "" "CACNA1F(NM_005183.4):c.587delA (p.K196Sfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931429" "0" "30" "X" "49070676" "49070676" "subst" "0.00252133" "02330" "CACNA1F_000497" "g.49070676G>A" "" "" "" "CACNA1F(NM_005183.4):c.3684C>T (p.V1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931430" "0" "70" "X" "49075195" "49075195" "subst" "0" "02327" "CACNA1F_000498" "g.49075195C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931431" "0" "90" "X" "49087423" "49087423" "del" "0" "02330" "CACNA1F_000411" "g.49087423del" "" "" "" "CACNA1F(NM_005183.4):c.413delT (p.F138Sfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951767" "0" "50" "X" "49062113" "49062113" "subst" "0" "02327" "CACNA1F_000499" "g.49062113T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951768" "0" "50" "X" "49076162" "49076162" "subst" "0" "02327" "CACNA1F_000500" "g.49076162A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951769" "0" "50" "X" "49086976" "49086976" "subst" "0" "02327" "CACNA1F_000501" "g.49086976C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951770" "0" "30" "X" "49087008" "49087008" "subst" "0" "02330" "CACNA1F_000181" "g.49087008T>C" "" "" "" "CACNA1F(NM_005183.3):c.585A>G (p.G195=), CACNA1F(NM_005183.4):c.585A>G (p.G195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000953887" "0" "90" "X" "49075087" "49082532" "del" "0" "00006" "CACNA1F_000502" "g.(49075002_49075087)_(49082532_49082678)del" "" "{PMID:Kim 2021:34064005}, {PMID:Moon 2021:35052368}" "" "del ex13-23" "" "Germline" "" "" "0" "" "" "g.(49218543_49218628)_(49226070_49226216)del" "" "pathogenic" "" "0000953888" "21" "90" "X" "49083407" "49083407" "subst" "0" "00006" "CACNA1F_000300" "g.49083407G>A" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.49226945G>A" "" "pathogenic" "" "0000953889" "21" "90" "X" "49079237" "49079241" "delins" "0" "00006" "CACNA1F_000505" "g.49079237_49079241delinsAATGCCATGATACCATCATACATGATG" "" "{PMID:Kim 2021:34064005}, {PMID:Moon 2021:35052368}" "" "2175_2179delins27" "" "Germline" "" "" "0" "" "" "g.49222778_49222782delinsAATGCCATGATACCATCATACATGATG" "" "pathogenic" "" "0000953890" "0" "90" "X" "49081222" "49081222" "subst" "0" "00006" "CACNA1F_000506" "g.49081222C>T" "" "{PMID:Kim 2021:34064005}, {PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.49224760C>T" "" "pathogenic" "" "0000953891" "0" "90" "X" "49068442" "49068442" "subst" "0" "00006" "CACNA1F_000165" "g.49068442C>T" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.49211982C>T" "" "pathogenic" "" "0000953892" "21" "90" "X" "49087706" "49087706" "del" "0" "00006" "CACNA1F_000345" "g.49087706del" "" "{PMID:Kim 2021:34064005}" "" "342delC" "" "Germline" "" "" "0" "" "" "g.49231244del" "" "pathogenic" "" "0000953893" "0" "90" "X" "49074961" "49074961" "subst" "0" "00006" "CACNA1F_000182" "g.49074961G>A" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.49218502G>A" "" "pathogenic" "" "0000953894" "21" "90" "X" "49068450" "49068450" "subst" "0" "00006" "CACNA1F_000503" "g.49068450C>A" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.49211990C>A" "" "pathogenic" "" "0000953895" "0" "90" "X" "49081222" "49081222" "subst" "0" "00006" "CACNA1F_000506" "g.49081222C>T" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.49224760C>T" "" "pathogenic" "" "0000953896" "0" "90" "X" "49076092" "49076092" "subst" "0" "00006" "CACNA1F_000275" "g.49076092C>T" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.49219633C>T" "" "pathogenic" "" "0000953897" "0" "90" "X" "49084801" "49084801" "subst" "0" "00006" "CACNA1F_000314" "g.49084801C>T" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.49228339C>T" "" "pathogenic" "" "0000953898" "21" "90" "X" "49075346" "49075346" "subst" "0" "00006" "CACNA1F_000504" "g.49075346G>T" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.49218887G>T" "" "pathogenic" "" "0000953899" "0" "90" "X" "49075195" "49075195" "subst" "0" "00006" "CACNA1F_000498" "g.49075195C>G" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.49218736C>G" "" "pathogenic" "" "0000954011" "21" "70" "X" "49083407" "49083407" "subst" "0" "00006" "CACNA1F_000300" "g.49083407G>A" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.49226945G>A" "" "likely pathogenic" "" "0000954012" "0" "90" "X" "49081222" "49081222" "subst" "0" "00006" "CACNA1F_000506" "g.49081222C>T" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.49224760C>T" "" "pathogenic" "" "0000958028" "20" "70" "X" "49088391" "49088391" "subst" "0" "00006" "CACNA1F_000185" "g.49088391T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.49231929T>C" "" "likely pathogenic (recessive)" "ACMG" "0000958190" "20" "90" "X" "49081221" "49081221" "subst" "0" "00006" "CACNA1F_000288" "g.49081221A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.49224759A>C" "1184971" "pathogenic" "ACMG" "0000958191" "20" "90" "X" "49067148" "49067148" "subst" "0" "00006" "CACNA1F_000508" "g.49067148T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.49210688T>C" "" "pathogenic (recessive)" "ACMG" "0000958196" "21" "70" "X" "49072944" "49072944" "dup" "0" "00006" "CACNA1F_000510" "g.49072944dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.49216484dup" "21443" "likely pathogenic (recessive)" "ACMG" "0000958197" "20" "70" "X" "49067073" "49067073" "subst" "0" "00006" "CACNA1F_000371" "g.49067073A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.49210613A>G" "1184973" "likely pathogenic (recessive)" "ACMG" "0000958869" "20" "50" "X" "49069174" "49069174" "subst" "1.71905E-5" "00006" "CACNA1F_000048" "g.49069174C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, BS2_SUPPORTING" "Germline" "" "" "0" "" "" "g.49212714C>T" "" "VUS" "ACMG" "0000958886" "20" "50" "X" "49062260" "49062260" "subst" "0" "00006" "CACNA1F_000507" "g.49062260G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.49205800G>A" "" "VUS" "ACMG" "0000958892" "20" "50" "X" "49086700" "49086700" "subst" "0" "00006" "CACNA1F_000511" "g.49086700A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.49230238A>G" "" "VUS" "ACMG" "0000958895" "0" "50" "X" "49068710" "49068710" "subst" "0" "00006" "CACNA1F_000509" "g.49068710C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.49212250C>A" "" "VUS" "ACMG" "0000958896" "20" "50" "X" "49066788" "49066788" "subst" "0" "00006" "CACNA1F_000199" "g.49066788G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BS2" "Germline/De novo (untested)" "" "" "0" "" "" "g.49210328G>A" "" "VUS" "ACMG" "0000959071" "0" "50" "X" "49069434" "49069434" "subst" "3.0159E-5" "00006" "CACNA1F_000006" "g.49069434C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BP7; no variant 2nd chromosome" "Germline/De novo (untested)" "" "" "0" "" "" "g.49212974C>T" "" "VUS" "ACMG" "0000959195" "20" "70" "X" "49072944" "49072944" "dup" "0" "00006" "CACNA1F_000510" "g.49072944dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.49216484dup" "" "likely pathogenic (recessive)" "ACMG" "0000959406" "20" "50" "X" "49063467" "49063467" "subst" "0" "00006" "CACNA1F_000105" "g.49063467G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.49207006G>C" "" "VUS" "ACMG" "0000971141" "0" "10" "X" "49061669" "49061669" "subst" "0.00525319" "02327" "CACNA1F_000008" "g.49061669G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000971143" "0" "30" "X" "49065081" "49065081" "subst" "0.000869365" "02330" "CACNA1F_000346" "g.49065081C>A" "" "" "" "CACNA1F(NM_005183.4):c.5050G>T (p.G1684W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971144" "0" "90" "X" "49069207" "49069207" "subst" "0" "02327" "CACNA1F_000112" "g.49069207G>A" "" "" "" "CACNA1F(NM_005183.3):c.3895C>T (p.R1299*), CACNA1F(NM_005183.4):c.3895C>T (p.R1299*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000971145" "0" "50" "X" "49074994" "49074994" "subst" "0" "02327" "CACNA1F_000056" "g.49074994C>T" "" "" "" "CACNA1F(NM_005183.3):c.2881G>A (p.A961T), CACNA1F(NM_005183.4):c.2881G>A (p.A961T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971147" "0" "30" "X" "49082487" "49082487" "subst" "0.000668646" "02330" "CACNA1F_000512" "g.49082487C>T" "" "" "" "CACNA1F(NM_005183.4):c.1568G>A (p.R523H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971148" "0" "50" "X" "49084876" "49084876" "subst" "0" "02327" "CACNA1F_000513" "g.49084876G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971149" "0" "50" "X" "49087325" "49087325" "subst" "0" "02327" "CACNA1F_000514" "g.49087325T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971150" "0" "50" "X" "49087384" "49087384" "subst" "0" "02327" "CACNA1F_000515" "g.49087384C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971151" "0" "70" "X" "49093730" "49093730" "subst" "0" "02327" "CACNA1F_000516" "g.49093730G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984727" "0" "30" "X" "49075407" "49075407" "subst" "6.3586E-5" "01804" "CACNA1F_000517" "g.49075407T>C" "" "" "" "CACNA1F(NM_001256789.3):c.2674-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984728" "0" "30" "X" "49088292" "49088292" "subst" "0.0020144" "01804" "CACNA1F_000083" "g.49088292C>T" "" "" "" "CACNA1F(NM_001256789.3):c.123G>A (p.(Gly41=)), CACNA1F(NM_005183.3):c.123G>A (p.G41=), CACNA1F(NM_005183.4):c.123G>A (p.G41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986305" "1" "50" "X" "49068431" "49068431" "subst" "5.61271E-6" "04405" "CACNA1F_000518" "g.49068431G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4027C>T" "" "Germline" "" "" "0" "" "" "g.49211971G>A" "" "VUS" "ACMG" "0000986306" "1" "70" "X" "49075340" "49075340" "subst" "0" "04405" "CACNA1F_000269" "g.49075340C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.49218881C>T" "" "likely pathogenic" "ACMG" "0000986307" "1" "50" "X" "49086963" "49086963" "subst" "0" "04405" "CACNA1F_000522" "g.49086963C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.49230501C>T" "" "VUS" "ACMG" "0000986308" "1" "50" "X" "49068373" "49068373" "subst" "0.000302392" "04405" "CACNA1F_000111" "g.49068373A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.49211913A>G" "" "VUS" "ACMG" "0000986309" "1" "50" "X" "49084710" "49084710" "subst" "0" "04405" "CACNA1F_000521" "g.49084710C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.49228248C>T" "" "VUS" "ACMG" "0000986310" "1" "70" "X" "49082450" "49082459" "del" "0" "04405" "CACNA1F_000519" "g.49082450_49082459del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1566_1575del" "" "Germline" "" "" "0" "" "" "g.49225988_49225997del" "" "likely pathogenic" "ACMG" "0000986927" "1" "70" "X" "49084537" "49084537" "subst" "0" "04405" "CACNA1F_000520" "g.49084537G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.49228075G>T" "" "likely pathogenic" "ACMG" "0001006811" "0" "50" "X" "49063218" "49063218" "subst" "5.80585E-6" "01804" "CACNA1F_000523" "g.49063218C>T" "" "" "" "CACNA1F(NM_001256789.1):c.5330G>A (p.(Arg1777His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006812" "0" "50" "X" "49071848" "49071848" "subst" "0" "01804" "CACNA1F_000524" "g.49071848G>A" "" "" "" "CACNA1F(NM_001256789.1):c.3392C>T (p.(Ala1131Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006813" "0" "50" "X" "49071980" "49071980" "subst" "0" "01804" "CACNA1F_000525" "g.49071980G>A" "" "" "" "CACNA1F(NM_001256789.1):c.3260C>T (p.(Ala1087Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006814" "0" "30" "X" "49078982" "49078982" "subst" "5.77991E-6" "01804" "CACNA1F_000526" "g.49078982C>T" "" "" "" "CACNA1F(NM_001256789.1):c.2287G>A (p.(Gly763Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006815" "0" "30" "X" "49082436" "49082436" "subst" "3.45979E-5" "02325" "CACNA1F_000064" "g.49082436A>T" "" "" "" "CACNA1F(NM_005183.3):c.1619T>A (p.F540Y), CACNA1F(NM_005183.4):c.1619T>A (p.F540Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006816" "0" "70" "X" "49087015" "49087015" "del" "0" "01804" "CACNA1F_000134" "g.49087015del" "" "" "" "CACNA1F(NM_001256789.1):c.579delC (p.(Gly195fs)), CACNA1F(NM_005183.4):c.579delC (p.G195Efs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006817" "0" "50" "X" "49087414" "49087414" "subst" "0" "01804" "CACNA1F_000527" "g.49087414A>C" "" "" "" "CACNA1F(NM_001256789.1):c.419T>G (p.(Val140Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006818" "0" "30" "X" "49088375" "49088375" "subst" "1.66554E-5" "01804" "CACNA1F_000528" "g.49088375G>A" "" "" "" "CACNA1F(NM_001256789.1):c.40C>T (p.(Pro14Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006819" "0" "50" "X" "49088392" "49088392" "subst" "0" "01804" "CACNA1F_000529" "g.49088392A>G" "" "" "" "CACNA1F(NM_001256789.1):c.26-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044378" "0" "30" "X" "49068718" "49068718" "subst" "2.84065E-5" "01804" "CACNA1F_000142" "g.49068718G>A" "" "" "" "CACNA1F(NM_001256789.3):c.3993C>T (p.(Ala1331=)), CACNA1F(NM_005183.3):c.4026C>T (p.A1342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044379" "0" "50" "X" "49072919" "49072919" "subst" "3.4828E-5" "01804" "CACNA1F_000144" "g.49072919G>T" "" "" "" "CACNA1F(NM_001256789.3):c.3159C>A (p.(Asn1053Lys)), CACNA1F(NM_005183.3):c.3192C>A (p.N1064K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044380" "0" "30" "X" "49072938" "49072938" "subst" "6.59947E-5" "01804" "CACNA1F_000530" "g.49072938C>T" "" "" "" "CACNA1F(NM_001256789.3):c.3140G>A (p.(Arg1047Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044381" "0" "30" "X" "49083155" "49083155" "subst" "0.000350517" "01804" "CACNA1F_000070" "g.49083155A>G" "" "" "" "CACNA1F(NM_001256789.3):c.1286T>C (p.(Leu429Pro)), CACNA1F(NM_005183.4):c.1319T>C (p.L440P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057330" "0" "50" "X" "49061611" "49061611" "subst" "1.13338E-5" "01804" "CACNA1F_000531" "g.49061611C>T" "" "" "" "CACNA1F(NM_001256789.3):c.5887G>A (p.(Val1963Ile))" "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 CACNA1F ## Count = 1258 "{{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}}" "0000001930" "00025624" "30" "3089" "149" "3089" "149" "c.3089+149dup" "r.(=)" "p.(=)" "" "0000001930" "00000427" "00" "3122" "153" "3122" "153" "c.3122+153dup" "r.(=)" "p.(=)" "26i" "0000006851" "00025624" "50" "5124" "-377" "5124" "-377" "c.5124-377T>C" "r.(=)" "p.(=)" "" "0000006851" "00000427" "50" "5157" "-377" "5157" "-377" "c.5157-377T>C" "r.(=)" "p.(=)" "" "0000006852" "00025624" "50" "3813" "68" "3813" "68" "c.3813+68G>A" "r.(=)" "p.(=)" "" "0000006852" "00000427" "50" "3846" "68" "3846" "68" "c.3846+68G>A" "r.(=)" "p.(=)" "" "0000006853" "00025624" "50" "3598" "-84" "3598" "-84" "c.3598-84C>T" "r.(=)" "p.(=)" "" "0000006853" "00000427" "50" "3631" "-84" "3631" "-84" "c.3631-84C>T" "r.(=)" "p.(=)" "" "0000006854" "00025624" "50" "3276" "0" "3276" "0" "c.3276T>C" "r.(=)" "p.(=)" "" "0000006854" "00000427" "50" "3309" "0" "3309" "0" "c.3309T>C" "r.(?)" "p.(His1103=)" "" "0000006855" "00025624" "30" "2928" "113" "2928" "113" "c.2928+113C>T" "r.(=)" "p.(=)" "" "0000006855" "00000427" "30" "2961" "113" "2961" "113" "c.2961+113C>T" "r.(=)" "p.(=)" "24i" "0000006856" "00025624" "50" "2289" "-44" "2289" "-44" "c.2289-44C>T" "r.(=)" "p.(=)" "" "0000006856" "00000427" "50" "2322" "-44" "2322" "-44" "c.2322-44C>T" "r.(=)" "p.(=)" "" "0000006857" "00025624" "50" "1809" "0" "1809" "0" "c.1809C>T" "r.(=)" "p.(=)" "" "0000006857" "00000427" "50" "1842" "0" "1842" "0" "c.1842C>T" "r.(?)" "p.(Gly614=)" "" "0000006858" "00025624" "30" "1118" "6" "1118" "6" "c.1118+6G>A" "r.(=)" "p.(=)" "" "0000006858" "00000427" "30" "1118" "6" "1118" "6" "c.1118+6G>A" "r.(spl?)" "p.(=)" "8i" "0000006859" "00025624" "30" "382" "-36" "382" "-36" "c.382-36C>T" "r.(=)" "p.(=)" "" "0000006859" "00000427" "30" "382" "-36" "382" "-36" "c.382-36C>T" "r.(=)" "p.(=)" "3i" "0000006860" "00025624" "30" "381" "99" "381" "99" "c.381+99C>T" "r.(=)" "p.(=)" "" "0000006860" "00000427" "30" "381" "99" "381" "99" "c.381+99C>T" "r.(=)" "p.(=)" "3i" "0000008921" "00025624" "50" "3813" "68" "3813" "68" "c.3813+68G>A" "r.(=)" "p.(=)" "" "0000008921" "00000427" "50" "3846" "68" "3846" "68" "c.3846+68G>A" "r.(=)" "p.(=)" "" "0000008922" "00025624" "50" "3598" "-84" "3598" "-84" "c.3598-84C>T" "r.(=)" "p.(=)" "" "0000008922" "00000427" "50" "3631" "-84" "3631" "-84" "c.3631-84C>T" "r.(=)" "p.(=)" "" "0000008923" "00025624" "50" "3276" "0" "3276" "0" "c.3276T>C" "r.(=)" "p.(=)" "" "0000008923" "00000427" "50" "3309" "0" "3309" "0" "c.3309T>C" "r.(?)" "p.(His1103=)" "" "0000008924" "00025624" "30" "3089" "149" "3089" "149" "c.3089+149dup" "r.(=)" "p.(=)" "" "0000008924" "00000427" "30" "3122" "153" "3122" "153" "c.3122+153dup" "r.(=)" "p.(=)" "26i" "0000008925" "00025624" "30" "2928" "113" "2928" "113" "c.2928+113C>T" "r.(=)" "p.(=)" "" "0000008925" "00000427" "30" "2961" "113" "2961" "113" "c.2961+113C>T" "r.(=)" "p.(=)" "24i" "0000008926" "00025624" "50" "2289" "-44" "2289" "-44" "c.2289-44C>T" "r.(=)" "p.(=)" "" "0000008926" "00000427" "50" "2322" "-44" "2322" "-44" "c.2322-44C>T" "r.(=)" "p.(=)" "" "0000008927" "00025624" "50" "1809" "0" "1809" "0" "c.1809C>T" "r.(=)" "p.(=)" "" "0000008927" "00000427" "50" "1842" "0" "1842" "0" "c.1842C>T" "r.(?)" "p.(Gly614=)" "" "0000008928" "00025624" "30" "1118" "6" "1118" "6" "c.1118+6G>A" "r.(=)" "p.(=)" "" "0000008928" "00000427" "30" "1118" "6" "1118" "6" "c.1118+6G>A" "r.(spl?)" "p.(=)" "8i" "0000008929" "00025624" "30" "382" "-36" "382" "-36" "c.382-36C>T" "r.(=)" "p.(=)" "" "0000008929" "00000427" "30" "382" "-36" "382" "-36" "c.382-36C>T" "r.(=)" "p.(=)" "3i" "0000008930" "00025624" "30" "381" "99" "381" "99" "c.381+99C>T" "r.(=)" "p.(=)" "" "0000008930" "00000427" "30" "381" "99" "381" "99" "c.381+99C>T" "r.(=)" "p.(=)" "3i" "0000010961" "00025624" "50" "3089" "149" "3089" "149" "c.3089+149dup" "r.(=)" "p.(=)" "" "0000010961" "00000427" "50" "3122" "153" "3122" "153" "c.3122+153dup" "r.(=)" "p.(=)" "" "0000059594" "00000427" "50" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "13" "0000059595" "00000427" "10" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "13" "0000059596" "00000427" "10" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "13" "0000059597" "00000427" "10" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "13" "0000059598" "00000427" "10" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "13" "0000059599" "00000427" "10" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "13" "0000059600" "00000427" "10" "1842" "0" "1842" "0" "c.1842C>T" "r.(?)" "p.(=)" "14" "0000059601" "00000427" "50" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "14" "0000059602" "00000427" "70" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "14" "0000059603" "00000427" "50" "2417" "0" "2417" "0" "c.2417C>T" "r.(?)" "p.(Ala806Val)" "19" "0000059604" "00000427" "10" "3309" "0" "3309" "0" "c.3309T>C" "r.(?)" "p.(=)" "28" "0000059605" "00000427" "50" "3846" "0" "3846" "0" "c.3846G>A" "r.(spl?)" "p.(?)" "32" "0000059606" "00000427" "30" "5789" "0" "5789" "0" "c.5789G>A" "r.(?)" "p.(Arg1930His)" "48" "0000059607" "00000427" "50" "5862" "0" "5862" "0" "c.5862C>T" "r.(?)" "p.(=)" "48" "0000059608" "00000427" "70" "1546" "0" "1546" "0" "c.1546C>G" "r.(?)" "p.(Arg516Gly)" "13" "0000059609" "00000427" "70" "1546" "0" "1546" "0" "c.1546C>G" "r.(?)" "p.(Arg516Gly)" "13" "0000059610" "00000427" "70" "220" "0" "220" "0" "c.220T>C" "r.(?)" "p.(Cys74Arg)" "2" "0000059611" "00000427" "70" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Arg)" "6" "0000067265" "00000427" "10" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Arg392Trp)" "9" "0000145987" "00000427" "90" "299" "0" "299" "0" "c.299T>G" "r.(?)" "p.(Leu100Arg)" "3" "0000145989" "00000427" "90" "2905" "0" "2905" "0" "c.2905C>T" "r.(?)" "p.(Arg969*)" "24" "0000247753" "00025624" "30" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0000247753" "00000427" "30" "1319" "0" "1319" "0" "c.1319T>C" "r.(?)" "p.(Leu440Pro)" "" "0000248738" "00025624" "10" "3276" "0" "3276" "0" "c.3276T>C" "r.(?)" "p.(His1092=)" "" "0000248738" "00000427" "10" "3309" "0" "3309" "0" "c.3309T>C" "r.(?)" "p.(His1103=)" "" "0000254690" "00025624" "30" "1576" "0" "1576" "0" "c.1576T>C" "r.(?)" "p.(Leu526=)" "" "0000254690" "00000427" "30" "1609" "0" "1609" "0" "c.1609T>C" "r.(?)" "p.(Leu537=)" "" "0000255960" "00025624" "30" "1586" "0" "1586" "0" "c.1586T>A" "r.(?)" "p.(Phe529Tyr)" "" "0000255960" "00000427" "30" "1619" "0" "1619" "0" "c.1619T>A" "r.(?)" "p.(Phe540Tyr)" "" "0000256038" "00025624" "50" "761" "0" "761" "0" "c.761T>C" "r.(?)" "p.(Ile254Thr)" "" "0000256038" "00000427" "50" "761" "0" "761" "0" "c.761T>C" "r.(?)" "p.(Ile254Thr)" "" "0000264083" "00025624" "90" "1463" "1" "1463" "1" "c.1463+1G>A" "r.spl?" "p.?" "" "0000264083" "00000427" "90" "1496" "1" "1496" "1" "c.1496+1G>A" "r.spl?" "p.?" "" "0000264084" "00025624" "10" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Val624Ile)" "" "0000264084" "00000427" "10" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "" "0000264085" "00025624" "10" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Asn735Thr)" "" "0000264085" "00000427" "10" "2237" "0" "2237" "0" "c.2237A>C" "r.(?)" "p.(Asn746Thr)" "" "0000264087" "00025624" "10" "2733" "15" "2733" "15" "c.2733+15C>T" "r.(=)" "p.(=)" "" "0000264087" "00000427" "10" "2766" "15" "2766" "15" "c.2766+15C>T" "r.(=)" "p.(=)" "" "0000264088" "00025624" "50" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Ala950Thr)" "" "0000264088" "00000427" "50" "2881" "0" "2881" "0" "c.2881G>A" "r.(?)" "p.(Ala961Thr)" "" "0000264089" "00025624" "10" "3438" "20" "3438" "20" "c.3438+20C>A" "r.(=)" "p.(=)" "" "0000264089" "00000427" "10" "3471" "20" "3471" "20" "c.3471+20C>A" "r.(=)" "p.(=)" "" "0000264090" "00025624" "10" "3439" "-18" "3439" "-18" "c.3439-18C>T" "r.(=)" "p.(=)" "" "0000264090" "00000427" "10" "3472" "-18" "3472" "-18" "c.3472-18C>T" "r.(=)" "p.(=)" "" "0000264091" "00025624" "50" "3574" "0" "3574" "0" "c.3574A>G" "r.(?)" "p.(Asn1192Asp)" "" "0000264091" "00000427" "50" "3607" "0" "3607" "0" "c.3607A>G" "r.(?)" "p.(Asn1203Asp)" "" "0000264092" "00025624" "10" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Gly1683Glu)" "" "0000264092" "00000427" "10" "5081" "0" "5081" "0" "c.5081G>A" "r.(?)" "p.(Gly1694Glu)" "" "0000264093" "00025624" "50" "5440" "0" "5440" "0" "c.5440C>T" "r.(?)" "p.(Arg1814Cys)" "" "0000264093" "00000427" "50" "5473" "0" "5473" "0" "c.5473C>T" "r.(?)" "p.(Arg1825Cys)" "" "0000264094" "00025624" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Arg)" "" "0000264094" "00000427" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Arg)" "" "0000266437" "00025624" "10" "1118" "6" "1118" "6" "c.1118+6G>A" "r.(=)" "p.(=)" "" "0000266437" "00000427" "10" "1118" "6" "1118" "6" "c.1118+6G>A" "r.(=)" "p.(=)" "" "0000266438" "00025624" "10" "1809" "0" "1809" "0" "c.1809C>T" "r.(?)" "p.(Gly603=)" "" "0000266438" "00000427" "10" "1842" "0" "1842" "0" "c.1842C>T" "r.(?)" "p.(Gly614=)" "" "0000272487" "00025624" "30" "1014" "6" "1014" "6" "c.1014+6G>A" "r.(=)" "p.(=)" "" "0000272487" "00000427" "30" "1014" "6" "1014" "6" "c.1014+6G>A" "r.(=)" "p.(=)" "" "0000272488" "00025624" "30" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Gly41=)" "" "0000272488" "00000427" "30" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Gly41=)" "" "0000272489" "00025624" "30" "1276" "8" "1276" "8" "c.1276+8G>T" "r.(=)" "p.(=)" "" "0000272489" "00000427" "30" "1284" "0" "1284" "0" "c.1284G>T" "r.(?)" "p.(Met428Ile)" "" "0000272490" "00025624" "30" "142" "0" "142" "0" "c.142C>A" "r.(?)" "p.(Pro48Thr)" "" "0000272490" "00000427" "30" "142" "0" "142" "0" "c.142C>A" "r.(?)" "p.(Pro48Thr)" "" "0000272491" "00025624" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Cys511Tyr)" "" "0000272491" "00000427" "50" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Cys522Tyr)" "" "0000272492" "00025624" "30" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Val624Ile)" "" "0000272492" "00000427" "30" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "" "0000272493" "00025624" "50" "1933" "0" "1933" "0" "c.1933A>G" "r.(?)" "p.(Ile645Val)" "" "0000272493" "00000427" "50" "1966" "0" "1966" "0" "c.1966A>G" "r.(?)" "p.(Ile656Val)" "" "0000272494" "00025624" "10" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ser660Cys)" "" "0000272494" "00000427" "10" "2012" "0" "2012" "0" "c.2012C>G" "r.(?)" "p.(Ser671Cys)" "" "0000272495" "00025624" "50" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70Gln)" "" "0000272495" "00000427" "50" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70Gln)" "" "0000272496" "00025624" "50" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Ala950Thr)" "" "0000272496" "00000427" "50" "2881" "0" "2881" "0" "c.2881G>A" "r.(?)" "p.(Ala961Thr)" "" "0000272497" "00025624" "50" "2882" "0" "2882" "0" "c.2882G>A" "r.(?)" "p.(Arg961Gln)" "" "0000272497" "00000427" "50" "2915" "0" "2915" "0" "c.2915G>A" "r.(?)" "p.(Arg972Gln)" "" "0000272498" "00025624" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Leu1296=)" "" "0000272498" "00000427" "30" "3921" "0" "3921" "0" "c.3921C>T" "r.(?)" "p.(Leu1307=)" "" "0000272499" "00025624" "50" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Gly1299Ser)" "" "0000272499" "00000427" "50" "3928" "0" "3928" "0" "c.3928G>A" "r.(?)" "p.(Gly1310Ser)" "" "0000272500" "00025624" "50" "3907" "0" "3907" "0" "c.3907C>T" "r.(?)" "p.(Arg1303Cys)" "" "0000272500" "00000427" "50" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Cys)" "" "0000272501" "00025624" "30" "4180" "0" "4180" "0" "c.4180G>A" "r.(?)" "p.(Gly1394Ser)" "" "0000272501" "00000427" "30" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "" "0000272502" "00025624" "50" "4524" "0" "4524" "0" "c.4524G>T" "r.(?)" "p.(Gly1508=)" "" "0000272502" "00000427" "50" "4557" "0" "4557" "0" "c.4557G>T" "r.(?)" "p.(Gly1519=)" "" "0000272503" "00025624" "30" "4557" "0" "4557" "0" "c.4557G>C" "r.(?)" "p.(Leu1519=)" "" "0000272503" "00000427" "30" "4590" "0" "4590" "0" "c.4590G>C" "r.(?)" "p.(Leu1530=)" "" "0000272504" "00025624" "50" "4993" "0" "4993" "0" "c.4993G>A" "r.(?)" "p.(Gly1665Arg)" "" "0000272504" "00000427" "50" "5026" "0" "5026" "0" "c.5026G>A" "r.(?)" "p.(Gly1676Arg)" "" "0000272505" "00025624" "90" "769" "0" "769" "0" "c.769G>T" "r.(?)" "p.(Glu257Ter)" "" "0000272505" "00000427" "90" "769" "0" "769" "0" "c.769G>T" "r.(?)" "p.(Glu257Ter)" "" "0000272506" "00025624" "50" "818" "-3" "818" "-3" "c.818-3C>A" "r.spl?" "p.?" "" "0000272506" "00000427" "50" "818" "-3" "818" "-3" "c.818-3C>A" "r.spl?" "p.?" "" "0000334077" "00025624" "50" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Gly1683Glu)" "" "0000334077" "00000427" "50" "5081" "0" "5081" "0" "c.5081G>A" "r.(?)" "p.(Gly1694Glu)" "" "0000334078" "00025624" "30" "5017" "0" "5017" "0" "c.5017G>C" "r.(?)" "p.(Gly1673Arg)" "" "0000334078" "00000427" "30" "5050" "0" "5050" "0" "c.5050G>C" "r.(?)" "p.(Gly1684Arg)" "" "0000334079" "00025624" "50" "4985" "0" "4985" "0" "c.4985G>A" "r.(?)" "p.(Arg1662Gln)" "" "0000334079" "00000427" "50" "5018" "0" "5018" "0" "c.5018G>A" "r.(?)" "p.(Arg1673Gln)" "" "0000334082" "00025624" "50" "4430" "0" "4430" "0" "c.4430G>A" "r.(?)" "p.(Arg1477His)" "" "0000334082" "00000427" "50" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Arg1488His)" "" "0000334084" "00025624" "30" "3270" "0" "3270" "0" "c.3270G>C" "r.(?)" "p.(Glu1090Asp)" "" "0000334084" "00000427" "30" "3303" "0" "3303" "0" "c.3303G>C" "r.(?)" "p.(Glu1101Asp)" "" "0000334085" "00025624" "30" "3236" "0" "3236" "0" "c.3236C>T" "r.(?)" "p.(Ala1079Val)" "" "0000334085" "00000427" "30" "3269" "0" "3269" "0" "c.3269C>T" "r.(?)" "p.(Ala1090Val)" "" "0000334088" "00025624" "50" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Asn735Thr)" "" "0000334088" "00000427" "50" "2237" "0" "2237" "0" "c.2237A>C" "r.(?)" "p.(Asn746Thr)" "" "0000334090" "00025624" "50" "1546" "0" "1546" "0" "c.1546A>G" "r.(?)" "p.(Lys516Glu)" "" "0000334090" "00000427" "50" "1579" "0" "1579" "0" "c.1579A>G" "r.(?)" "p.(Lys527Glu)" "" "0000334091" "00025624" "50" "1433" "0" "1435" "0" "c.1433_1435del" "r.(?)" "p.(Glu478del)" "" "0000334091" "00000427" "50" "1466" "0" "1468" "0" "c.1466_1468del" "r.(?)" "p.(Glu489del)" "" "0000334092" "00025624" "50" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Glu412Lys)" "" "0000334092" "00000427" "50" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Glu412Lys)" "" "0000334094" "00025624" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" "0000334094" "00000427" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" "0000334095" "00025624" "50" "273" "0" "273" "0" "c.273G>C" "r.(?)" "p.(Trp91Cys)" "" "0000334095" "00000427" "50" "273" "0" "273" "0" "c.273G>C" "r.(?)" "p.(Trp91Cys)" "" "0000338983" "00025624" "90" "2733" "1" "2733" "1" "c.2733+1G>T" "r.spl?" "p.?" "" "0000338983" "00000427" "90" "2766" "1" "2766" "1" "c.2766+1G>T" "r.spl?" "p.?" "" "0000340198" "00025624" "10" "3276" "0" "3276" "0" "c.3276T>C" "r.(?)" "p.(His1092=)" "" "0000340198" "00000427" "10" "3309" "0" "3309" "0" "c.3309T>C" "r.(?)" "p.(His1103=)" "" "0000342162" "00025624" "10" "5756" "0" "5756" "0" "c.5756G>A" "r.(?)" "p.(Arg1919His)" "" "0000342162" "00000427" "10" "5789" "0" "5789" "0" "c.5789G>A" "r.(?)" "p.(Arg1930His)" "" "0000342581" "00025624" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" "0000342581" "00000427" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" "0000343460" "00025624" "90" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Arg884Ter)" "" "0000343460" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895Ter)" "" "0000344273" "00025624" "50" "4202" "0" "4202" "0" "c.4202G>A" "r.(?)" "p.(Cys1401Tyr)" "" "0000344273" "00000427" "50" "4235" "0" "4235" "0" "c.4235G>A" "r.(?)" "p.(Cys1412Tyr)" "" "0000348206" "00025624" "10" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Pro14Leu)" "" "0000348206" "00000427" "10" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Pro14Leu)" "" "0000350755" "00025624" "50" "1369" "3" "1369" "3" "c.1369+3G>T" "r.spl?" "p.?" "" "0000350755" "00000427" "50" "1402" "3" "1402" "3" "c.1402+3G>T" "r.spl?" "p.?" "" "0000500548" "00000427" "90" "1496" "5" "1496" "5" "c.1496+5G>C" "r.(1403_1496del)" "p.?" "11i" "0000500549" "00000427" "90" "4294" "-9" "4294" "-9" "c.4294-9G>A" "r.(4293_4294ins4294-7_4294-1)" "p.(=)" "36i" "0000500550" "00000427" "90" "522" "-16" "522" "-16" "c.522-16G>A" "r.(521_522ins522-14_522-1)" "p.(=)" "4i" "0000500551" "00000427" "90" "276" "-15" "276" "-15" "c.276-15C>A" "r.spl" "p.(=)" "2i" "0000500552" "00000427" "90" "2321" "5" "2321" "5" "c.2321+5G>T" "r.spl" "p.?" "17i" "0000500553" "00000427" "90" "646" "0" "646" "0" "c.646C>T" "r.(645_664del)" "p.(Leu216=)" "5" "0000500554" "00000427" "90" "1719" "0" "1719" "0" "c.1719G>A" "r.(1685_1720del)" "p.(Thr573=)" "14" "0000576342" "00025624" "50" "5762" "0" "5762" "0" "c.5762C>T" "r.(?)" "p.(Thr1921Met)" "" "0000576342" "00000427" "50" "5795" "0" "5795" "0" "c.5795C>T" "r.(?)" "p.(Thr1932Met)" "" "0000576343" "00025624" "10" "5700" "0" "5700" "0" "c.5700T>C" "r.(?)" "p.(Phe1900=)" "" "0000576343" "00000427" "10" "5733" "0" "5733" "0" "c.5733T>C" "r.(?)" "p.(Phe1911=)" "" "0000576344" "00025624" "90" "5446" "0" "5446" "0" "c.5446C>T" "r.(?)" "p.(Arg1816Ter)" "" "0000576344" "00000427" "90" "5479" "0" "5479" "0" "c.5479C>T" "r.(?)" "p.(Arg1827Ter)" "" "0000576345" "00025624" "30" "5395" "0" "5395" "0" "c.5395C>T" "r.(?)" "p.(Arg1799Cys)" "" "0000576345" "00000427" "30" "5428" "0" "5428" "0" "c.5428C>T" "r.(?)" "p.(Arg1810Cys)" "" "0000576346" "00025624" "50" "5363" "0" "5363" "0" "c.5363G>A" "r.(?)" "p.(Arg1788Gln)" "" "0000576346" "00000427" "50" "5396" "0" "5396" "0" "c.5396G>A" "r.(?)" "p.(Arg1799Gln)" "" "0000576347" "00025624" "50" "5329" "0" "5329" "0" "c.5329C>T" "r.(?)" "p.(Arg1777Cys)" "" "0000576347" "00000427" "50" "5362" "0" "5362" "0" "c.5362C>T" "r.(?)" "p.(Arg1788Cys)" "" "0000576348" "00025624" "50" "5230" "0" "5230" "0" "c.5230C>G" "r.(?)" "p.(Arg1744Gly)" "" "0000576348" "00000427" "50" "5263" "0" "5263" "0" "c.5263C>G" "r.(?)" "p.(Arg1755Gly)" "" "0000576349" "00025624" "50" "5061" "0" "5063" "0" "c.5061_5063del" "r.(?)" "p.(Asp1688del)" "" "0000576349" "00000427" "50" "5094" "0" "5096" "0" "c.5094_5096del" "r.(?)" "p.(Asp1699del)" "" "0000576350" "00025624" "10" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Gly1683Glu)" "" "0000576350" "00000427" "10" "5081" "0" "5081" "0" "c.5081G>A" "r.(?)" "p.(Gly1694Glu)" "" "0000576351" "00025624" "30" "5017" "0" "5017" "0" "c.5017G>C" "r.(?)" "p.(Gly1673Arg)" "" "0000576351" "00000427" "30" "5050" "0" "5050" "0" "c.5050G>C" "r.(?)" "p.(Gly1684Arg)" "" "0000576352" "00025624" "50" "4769" "0" "4769" "0" "c.4769A>G" "r.(?)" "p.(Glu1590Gly)" "" "0000576352" "00000427" "50" "4802" "0" "4802" "0" "c.4802A>G" "r.(?)" "p.(Glu1601Gly)" "" "0000576353" "00025624" "50" "4760" "0" "4760" "0" "c.4760G>A" "r.(?)" "p.(Arg1587Gln)" "" "0000576353" "00000427" "50" "4793" "0" "4793" "0" "c.4793G>A" "r.(?)" "p.(Arg1598Gln)" "" "0000576354" "00025624" "50" "4429" "0" "4429" "0" "c.4429C>T" "r.(?)" "p.(Arg1477Cys)" "" "0000576354" "00000427" "50" "4462" "0" "4462" "0" "c.4462C>T" "r.(?)" "p.(Arg1488Cys)" "" "0000576355" "00025624" "30" "4132" "0" "4132" "0" "c.4132A>T" "r.(?)" "p.(Met1378Leu)" "" "0000576355" "00000427" "30" "4165" "0" "4165" "0" "c.4165A>T" "r.(?)" "p.(Met1389Leu)" "" "0000576356" "00025624" "50" "4132" "0" "4132" "0" "c.4132A>T" "r.(?)" "p.(Met1378Leu)" "" "0000576356" "00000427" "50" "4165" "0" "4165" "0" "c.4165A>T" "r.(?)" "p.(Met1389Leu)" "" "0000576357" "00025624" "30" "4085" "0" "4085" "0" "c.4085T>C" "r.(?)" "p.(Val1362Ala)" "" "0000576357" "00000427" "30" "4118" "0" "4118" "0" "c.4118T>C" "r.(?)" "p.(Val1373Ala)" "" "0000576358" "00025624" "90" "3862" "0" "3862" "0" "c.3862C>T" "r.(?)" "p.(Arg1288Ter)" "" "0000576358" "00000427" "90" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299Ter)" "" "0000576359" "00025624" "10" "3742" "0" "3742" "0" "c.3742G>A" "r.(?)" "p.(Ala1248Thr)" "" "0000576359" "00000427" "10" "3775" "0" "3775" "0" "c.3775G>A" "r.(?)" "p.(Ala1259Thr)" "" "0000576360" "00025624" "50" "3597" "0" "3597" "0" "c.3597G>A" "r.(?)" "p.(Gln1199=)" "" "0000576360" "00000427" "50" "3630" "0" "3630" "0" "c.3630G>A" "r.(?)" "p.(Gln1210=)" "" "0000576361" "00025624" "30" "3291" "0" "3291" "0" "c.3291T>C" "r.(?)" "p.(Asn1097=)" "" "0000576361" "00000427" "30" "3324" "0" "3324" "0" "c.3324T>C" "r.(?)" "p.(Asn1108=)" "" "0000576362" "00025624" "90" "3236" "1" "3236" "1" "c.3236+1G>A" "r.spl?" "p.?" "" "0000576362" "00000427" "90" "3269" "1" "3269" "1" "c.3269+1G>A" "r.spl?" "p.?" "" "0000576363" "00025624" "50" "3236" "0" "3236" "0" "c.3236C>T" "r.(?)" "p.(Ala1079Val)" "" "0000576363" "00000427" "50" "3269" "0" "3269" "0" "c.3269C>T" "r.(?)" "p.(Ala1090Val)" "" "0000576364" "00025624" "30" "2777" "0" "2777" "0" "c.2777G>A" "r.(?)" "p.(Arg926His)" "" "0000576364" "00000427" "30" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937His)" "" "0000576365" "00025624" "10" "2733" "14" "2733" "14" "c.2733+14C>A" "r.(=)" "p.(=)" "" "0000576365" "00000427" "10" "2766" "14" "2766" "14" "c.2766+14C>A" "r.(=)" "p.(=)" "" "0000576366" "00025624" "50" "2638" "0" "2638" "0" "c.2638G>A" "r.(?)" "p.(Glu880Lys)" "" "0000576366" "00000427" "50" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Glu891Lys)" "" "0000576369" "00025624" "10" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(Asn703=)" "" "0000576369" "00000427" "10" "2142" "0" "2142" "0" "c.2142C>T" "r.(?)" "p.(Asn714=)" "" "0000576370" "00025624" "50" "2059" "0" "2059" "0" "c.2059C>T" "r.(?)" "p.(Pro687Ser)" "" "0000576370" "00000427" "50" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Pro698Ser)" "" "0000576371" "00025624" "30" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Val624Ile)" "" "0000576371" "00000427" "30" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "" "0000576372" "00025624" "30" "1651" "6" "1651" "6" "c.1651+6C>T" "r.(=)" "p.(=)" "" "0000576372" "00000427" "30" "1684" "6" "1684" "6" "c.1684+6C>T" "r.(=)" "p.(=)" "" "0000576373" "00025624" "50" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Gly541Arg)" "" "0000576373" "00000427" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Gly552Arg)" "" "0000576375" "00025624" "50" "1382" "0" "1382" "0" "c.1382C>T" "r.(?)" "p.(Ala461Val)" "" "0000576375" "00000427" "50" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Ala472Val)" "" "0000576377" "00025624" "10" "1277" "-13" "1277" "-13" "c.1277-13T>C" "r.(=)" "p.(=)" "" "0000576377" "00000427" "10" "1310" "-13" "1310" "-13" "c.1310-13T>C" "r.(=)" "p.(=)" "" "0000576378" "00025624" "30" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "" "0000576378" "00000427" "30" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "" "0000576379" "00025624" "30" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "" "0000576379" "00000427" "30" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "" "0000576380" "00025624" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Arg385=)" "" "0000576380" "00000427" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Arg385=)" "" "0000576381" "00025624" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Val370Ile)" "" "0000576381" "00000427" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Val370Ile)" "" "0000576382" "00025624" "70" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Gly359Arg)" "" "0000576382" "00000427" "70" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Gly359Arg)" "" "0000576383" "00025624" "90" "829" "0" "829" "0" "c.829del" "r.(?)" "p.(Glu277ArgfsTer18)" "" "0000576383" "00000427" "90" "829" "0" "829" "0" "c.829del" "r.(?)" "p.(Glu277ArgfsTer18)" "" "0000576384" "00025624" "10" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Gly194=)" "" "0000576384" "00000427" "10" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Gly194=)" "" "0000576385" "00025624" "90" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195GlufsTer8)" "" "0000576385" "00000427" "90" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195GlufsTer8)" "" "0000576386" "00025624" "10" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Leu166=)" "" "0000576386" "00000427" "10" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Leu166=)" "" "0000576387" "00025624" "10" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Glu131=)" "" "0000576387" "00000427" "10" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Glu131=)" "" "0000576388" "00025624" "10" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Gly41=)" "" "0000576388" "00000427" "10" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Gly41=)" "" "0000576389" "00025624" "50" "40" "0" "40" "0" "c.40C>A" "r.(?)" "p.(Pro14Thr)" "" "0000576389" "00000427" "50" "40" "0" "40" "0" "c.40C>A" "r.(?)" "p.(Pro14Thr)" "" "0000576390" "00025624" "30" "-3892" "0" "-3892" "0" "c.-3892C>G" "r.(?)" "p.(=)" "" "0000576390" "00000427" "30" "-3892" "0" "-3892" "0" "c.-3892C>G" "r.(?)" "p.(=)" "" "0000619650" "00025624" "30" "4516" "0" "4516" "0" "c.4516T>C" "r.(?)" "p.(Ser1506Pro)" "" "0000619650" "00000427" "30" "4549" "0" "4549" "0" "c.4549T>C" "r.(?)" "p.(Ser1517Pro)" "" "0000619651" "00025624" "30" "3993" "0" "3993" "0" "c.3993C>T" "r.(?)" "p.(Ala1331=)" "" "0000619651" "00000427" "30" "4026" "0" "4026" "0" "c.4026C>T" "r.(?)" "p.(Ala1342=)" "" "0000619652" "00025624" "50" "3832" "0" "3832" "0" "c.3832C>T" "r.(?)" "p.(Arg1278Cys)" "" "0000619652" "00000427" "50" "3865" "0" "3865" "0" "c.3865C>T" "r.(?)" "p.(Arg1289Cys)" "" "0000619653" "00025624" "30" "2929" "-20" "2929" "-20" "c.2929-20A>C" "r.(=)" "p.(=)" "" "0000619653" "00000427" "30" "2962" "-20" "2962" "-20" "c.2962-20A>C" "r.(=)" "p.(=)" "" "0000619654" "00025624" "10" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Asn735Thr)" "" "0000619654" "00000427" "10" "2237" "0" "2237" "0" "c.2237A>C" "r.(?)" "p.(Asn746Thr)" "" "0000619655" "00025624" "90" "1061" "0" "1061" "0" "c.1061dup" "r.(?)" "p.(Ser354ArgfsTer70)" "" "0000619655" "00000427" "90" "1061" "0" "1061" "0" "c.1061dup" "r.(?)" "p.(Ser354ArgfsTer70)" "" "0000619656" "00025624" "90" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Trp349Ter)" "" "0000619656" "00000427" "90" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Trp349Ter)" "" "0000619657" "00025624" "50" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Asp334Asn)" "" "0000619657" "00000427" "50" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Asp334Asn)" "" "0000619658" "00025624" "50" "854" "0" "874" "0" "c.854_874del" "r.(?)" "p.(Ser285_Ala291del)" "" "0000619658" "00000427" "50" "854" "0" "874" "0" "c.854_874del" "r.(?)" "p.(Ser285_Ala291del)" "" "0000619659" "00025624" "70" "522" "-16" "522" "-16" "c.522-16G>A" "r.(=)" "p.(=)" "" "0000619659" "00000427" "70" "522" "-16" "522" "-16" "c.522-16G>A" "r.(=)" "p.(=)" "" "0000619660" "00025624" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Glu131=)" "" "0000619660" "00000427" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Glu131=)" "" "0000619661" "00025624" "30" "-3815" "0" "-3815" "0" "c.-3815G>A" "r.(?)" "p.(=)" "" "0000619661" "00000427" "30" "-3815" "0" "-3815" "0" "c.-3815G>A" "r.(?)" "p.(=)" "" "0000624642" "00025624" "30" "5763" "0" "5763" "0" "c.5763G>A" "r.(?)" "p.(Thr1921=)" "" "0000624642" "00000427" "30" "5796" "0" "5796" "0" "c.5796G>A" "r.(?)" "p.(Thr1932=)" "" "0000624644" "00025624" "30" "5273" "0" "5273" "0" "c.5273C>T" "r.(?)" "p.(Ser1758Leu)" "" "0000624644" "00000427" "30" "5306" "0" "5306" "0" "c.5306C>T" "r.(?)" "p.(Ser1769Leu)" "" "0000624645" "00025624" "50" "3159" "0" "3159" "0" "c.3159C>A" "r.(?)" "p.(Asn1053Lys)" "" "0000624645" "00000427" "50" "3192" "0" "3192" "0" "c.3192C>A" "r.(?)" "p.(Asn1064Lys)" "" "0000624646" "00025624" "10" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(Ala411=)" "" "0000624646" "00000427" "10" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(Ala411=)" "" "0000652928" "00025624" "50" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Val624Ile)" "" "0000652928" "00000427" "50" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "" "0000659352" "00025624" "50" "4442" "0" "4442" "0" "c.4442C>T" "r.(?)" "p.(Pro1481Leu)" "" "0000659352" "00000427" "50" "4475" "0" "4475" "0" "c.4475C>T" "r.(?)" "p.(Pro1492Leu)" "" "0000659353" "00025624" "30" "3389" "0" "3389" "0" "c.3389G>A" "r.(?)" "p.(Arg1130His)" "" "0000659353" "00000427" "30" "3422" "0" "3422" "0" "c.3422G>A" "r.(?)" "p.(Arg1141His)" "" "0000659354" "00025624" "90" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Gly1007Arg)" "" "0000659354" "00000427" "90" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Arg)" "" "0000659355" "00025624" "10" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Val624Ile)" "" "0000659355" "00000427" "10" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "" "0000659356" "00025624" "30" "1677" "0" "1677" "0" "c.1677T>C" "r.(?)" "p.(Cys559=)" "" "0000659356" "00000427" "30" "1710" "0" "1710" "0" "c.1710T>C" "r.(?)" "p.(Cys570=)" "" "0000659357" "00025624" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(Ala430=)" "" "0000659357" "00000427" "30" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Ala441=)" "" "0000659358" "00025624" "90" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Gly359Arg)" "" "0000659358" "00000427" "90" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Gly359Arg)" "" "0000659359" "00025624" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Arg)" "" "0000659359" "00000427" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Arg)" "" "0000659360" "00025624" "30" "546" "0" "546" "0" "c.546G>T" "r.(?)" "p.(Gln182His)" "" "0000659360" "00000427" "30" "546" "0" "546" "0" "c.546G>T" "r.(?)" "p.(Gln182His)" "" "0000659361" "00025624" "70" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "" "0000659361" "00000427" "70" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "" "0000659362" "00025624" "50" "-3819" "0" "-3819" "0" "c.-3819T>C" "r.(?)" "p.(=)" "" "0000659362" "00000427" "50" "-3819" "0" "-3819" "0" "c.-3819T>C" "r.(?)" "p.(=)" "" "0000682483" "00025624" "30" "5467" "0" "5467" "0" "c.5467G>A" "r.(?)" "p.(Ala1823Thr)" "" "0000682483" "00000427" "30" "5500" "0" "5500" "0" "c.5500G>A" "r.(?)" "p.(Ala1834Thr)" "" "0000682484" "00025624" "50" "5155" "0" "5155" "0" "c.5155C>T" "r.(?)" "p.(Pro1719Ser)" "" "0000682484" "00000427" "50" "5188" "0" "5188" "0" "c.5188C>T" "r.(?)" "p.(Pro1730Ser)" "" "0000682485" "00025624" "50" "4430" "0" "4430" "0" "c.4430G>A" "r.(?)" "p.(Arg1477His)" "" "0000682485" "00000427" "50" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Arg1488His)" "" "0000682486" "00025624" "90" "3862" "0" "3862" "0" "c.3862C>T" "r.(?)" "p.(Arg1288Ter)" "" "0000682486" "00000427" "90" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299Ter)" "" "0000682487" "00025624" "90" "2038" "0" "2038" "0" "c.2038C>T" "r.(?)" "p.(Arg680Ter)" "" "0000682487" "00000427" "90" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691Ter)" "" "0000684506" "00000427" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "" "0000684507" "00000427" "70" "1471" "0" "1471" "0" "c.1471dup" "r.(?)" "p.(Ala491Glyfs*59)" "" "0000684508" "00000427" "70" "2783" "0" "2783" "0" "c.2783C>A" "r.(?)" "p.(Ala928Asp)" "" "0000684683" "00000427" "70" "4049" "0" "4049" "0" "c.4049G>A" "r.(?)" "p.(Gly1350Asp)" "" "0000685057" "00000427" "70" "4487" "0" "4487" "0" "c.4487G>A" "r.(?)" "p.(Gly1496Glu)" "" "0000685058" "00000427" "70" "4294" "-9" "4294" "-9" "c.4294-9G>A" "r.spl" "p.?" "" "0000685059" "00000427" "90" "4084" "0" "4084" "0" "c.4084C>T" "r.(?)" "p.(Arg1362*)" "" "0000685060" "00000427" "90" "3954" "0" "3954" "0" "c.3954G>A" "r.(?)" "p.(Trp1318*)" "" "0000685061" "00000427" "90" "3718" "0" "3825" "21" "c.3718_3825+21del" "r.spl" "p.?" "" "0000685062" "00000427" "90" "2805" "0" "2805" "0" "c.2805del" "r.(?)" "p.(Cys936Alafs*30)" "" "0000685063" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "" "0000685064" "00000427" "90" "2503" "0" "2503" "0" "c.2503G>T" "r.(?)" "p.(Glu835*)" "" "0000685065" "00000427" "90" "2258" "0" "2258" "0" "c.2258T>G" "r.(?)" "p.(Phe753Cys)" "" "0000685066" "00000427" "90" "1309" "1" "1309" "1" "c.1309+1G>A" "r.spl" "p.?" "" "0000685067" "00000427" "90" "1015" "-2" "1015" "-2" "c.1015-2A>G" "r.spl" "p.?" "" "0000685068" "00000427" "70" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "" "0000685069" "00000427" "90" "187" "0" "193" "0" "c.187_193dup" "r.(?)" "p.(Ala65Glyfs*55)" "" "0000693634" "00025624" "90" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Arg884Ter)" "" "0000693634" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895Ter)" "" "0000693635" "00025624" "90" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Arg614Ter)" "" "0000693635" "00000427" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625Ter)" "" "0000693636" "00025624" "30" "1710" "0" "1710" "0" "c.1710C>T" "r.(?)" "p.(Tyr570=)" "" "0000693636" "00000427" "30" "1743" "0" "1743" "0" "c.1743C>T" "r.(?)" "p.(Tyr581=)" "" "0000693637" "00025624" "50" "953" "0" "953" "0" "c.953T>C" "r.(?)" "p.(Phe318Ser)" "" "0000693637" "00000427" "50" "953" "0" "953" "0" "c.953T>C" "r.(?)" "p.(Phe318Ser)" "" "0000693638" "00025624" "30" "585" "0" "585" "0" "c.585A>G" "r.(?)" "p.(Gly195=)" "" "0000693638" "00000427" "30" "585" "0" "585" "0" "c.585A>G" "r.(?)" "p.(Gly195=)" "" "0000703791" "00000427" "50" "832" "0" "832" "0" "c.832G>T" "r.(?)" "p.(Glu278*)" "7" "0000703792" "00000427" "50" "1218" "0" "1218" "0" "c.1218delC" "r.(?)" "p.(Trp407Glyfs*26)" "9" "0000703793" "00000427" "50" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972*)" "24" "0000708546" "00000427" "70" "26" "-2" "26" "-2" "c.26-2A>G" "r.(?)" "p.(?)" "" "0000711677" "00000427" "70" "3794" "0" "3794" "0" "c.3794G>T" "r.(?)" "p.(Ser1265Ile)" "32" "0000711678" "00000427" "70" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691*)" "15" "0000711679" "00000427" "70" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "22" "0000711680" "00000427" "70" "3886" "0" "3886" "0" "c.3886C>A" "r.(?)" "p.(Arg1296Ser)" "33" "0000711681" "00000427" "30" "5789" "0" "5789" "0" "c.5789G>A" "r.(?)" "p.(Arg1930His)" "48" "0000713031" "00000427" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "2" "0000713032" "00000427" "90" "187" "0" "193" "0" "c.187_193dup" "r.(?)" "p.(Ala65Glyfs*55)" "2" "0000713033" "00000427" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "2" "0000713034" "00000427" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "2" "0000713035" "00000427" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "2" "0000713036" "00000427" "90" "245" "0" "245" "0" "c.245G>C" "r.(?)" "p.(Arg82Pro)" "2" "0000713037" "00000427" "90" "245" "0" "245" "0" "c.245G>C" "r.(?)" "p.(Arg82Pro)" "2" "0000713038" "00000427" "90" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "2" "0000713039" "00000427" "90" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "2" "0000713040" "00000427" "90" "263" "0" "263" "0" "c.263T>A" "r.(?)" "p.(Ile88Asn)" "2" "0000713041" "00000427" "90" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Leu100Pro)" "3" "0000713042" "00000427" "90" "299" "0" "299" "0" "c.299T>G" "r.(?)" "p.(Leu100Arg)" "3" "0000713043" "00000427" "90" "371" "0" "371" "0" "c.371dup" "r.(?)" "p.(Asn124Lysfs*175)" "3" "0000713044" "00000427" "90" "396" "0" "396" "0" "c.396C>A" "r.(?)" "p.(Tyr132*)" "4" "0000713045" "00000427" "90" "396" "0" "396" "0" "c.396C>G" "r.(?)" "p.(Tyr132*)" "4" "0000713046" "00000427" "90" "431" "0" "431" "0" "c.431T>C" "r.(?)" "p.(Leu144Pro)" "4" "0000713047" "00000427" "90" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Gly150Arg)" "4" "0000713048" "00000427" "90" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Gly150Arg)" "4" "0000713049" "00000427" "90" "495" "0" "496" "0" "c.495_496insTACCTA" "r.(?)" "p.(Leu165_Leu166insTyrLeu)" "4" "0000713050" "00000427" "90" "584" "0" "584" "0" "c.584del" "r.(?)" "p.(Gly195Glufs*8)" "5" "0000713051" "00000427" "90" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Ala204Val)" "5" "0000713052" "00000427" "90" "647" "0" "647" "0" "c.647T>G" "r.(?)" "p.(Leu216Arg)" "5" "0000713053" "00000427" "90" "664" "1" "664" "1" "c.664+1G>T" "r.spl" "p.?" "5i" "0000713054" "00000427" "90" "731" "0" "731" "0" "c.731T>G" "r.(?)" "p.(Val244Gly)" "6" "0000713055" "00000427" "90" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "6" "0000713056" "00000427" "90" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "6" "0000713057" "00000427" "90" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Gly255Glu)" "6" "0000713058" "00000427" "90" "796" "0" "797" "0" "c.796_797delinsGAACTT" "r.(?)" "p.(Thr266Glufs*34)" "6" "0000713059" "00000427" "90" "804" "0" "804" "0" "c.804C>A" "r.(?)" "p.(Tyr268*)" "6" "0000713060" "00000427" "90" "816" "0" "816" "0" "c.816dup" "r.(?)" "p.(Asp273Argfs*26)" "6" "0000713061" "00000427" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "7" "0000713062" "00000427" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "7" "0000713063" "00000427" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "7" "0000713064" "00000427" "90" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Cys299Tyr)" "7" "0000713065" "00000427" "90" "909" "0" "909" "0" "c.909G>T" "r.(?)" "p.(Trp303Cys)" "7" "0000713066" "00000427" "90" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Gly309Asp)" "7" "0000713067" "00000427" "90" "935" "0" "935" "0" "c.935del" "r.(?)" "p.(Asn312Thrfs*10)" "7" "0000713068" "00000427" "90" "943" "0" "945" "0" "c.943_945del" "r.(?)" "p.(Asn315del)" "7" "0000713069" "00000427" "90" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "7" "0000713070" "00000427" "90" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Gln325*)" "7" "0000713071" "00000427" "90" "985" "0" "986" "0" "c.985_986insC" "r.(?)" "p.(Met329Thrfs*18)" "7" "0000713072" "00000427" "90" "994" "0" "994" "0" "c.994T>C" "r.(?)" "p.(Trp332Arg)" "7" "0000713073" "00000427" "90" "1004" "0" "1009" "0" "c.1004_1009del" "r.(?)" "p.(Val335_Tyr337delinsAsp)" "7" "0000713074" "00000427" "90" "1014" "0" "1014" "0" "c.1014G>A" "r.(?)" "p.(Trp338*)" "7" "0000713075" "00000427" "90" "1014" "1" "1014" "1" "c.1014+1G>A" "r.spl" "p.?" "7i" "0000713076" "00000427" "90" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Trp349*)" "8" "0000713077" "00000427" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Gly369Asp)" "8" "0000713078" "00000427" "90" "1119" "-2" "1119" "-1" "c.1119-2_1119-1del" "r.spl" "p.?" "8i" "0000713079" "00000427" "90" "1141" "0" "1141" "0" "c.1141A>T" "r.(?)" "p.(Lys381*)" "9" "0000713080" "00000427" "90" "1496" "1" "1496" "1" "c.1496+1G>A" "r.spl" "p.?" "11i" "0000713081" "00000427" "90" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513*)" "13" "0000713082" "00000427" "90" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513*)" "13" "0000713083" "00000427" "90" "1556" "0" "1556" "0" "c.1556G>C" "r.(?)" "p.(Arg519Pro)" "13" "0000713084" "00000427" "90" "1599" "0" "1599" "0" "c.1599G>A" "r.(?)" "p.(Trp533*)" "13" "0000713085" "00000427" "90" "1684" "1" "1684" "1" "c.1684+1G>A" "r.spl" "p.?" "13i" "0000713086" "00000427" "90" "1794" "0" "1794" "0" "c.1794C>A" "r.(?)" "p.(Cys598*)" "14" "0000713087" "00000427" "90" "1739" "0" "1739" "0" "c.1739del" "r.(?)" "p.(Leu580Cysfs*27)" "14" "0000713088" "00000427" "90" "1849" "0" "1849" "0" "c.1849C>T" "r.(?)" "p.(Gln617*)" "14" "0000713089" "00000427" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625*)" "14" "0000713090" "00000427" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625*)" "14" "0000713091" "00000427" "90" "1910" "2" "1910" "2" "c.1910+2T>G" "r.spl" "p.?" "14i" "0000713092" "00000427" "90" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691*)" "15" "0000713093" "00000427" "90" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691*)" "15" "0000713094" "00000427" "90" "2094" "0" "2095" "0" "c.2094_2095del" "p.(Gln699Glyfs*12)" "p.(Gln699Glyfs*12)" "15" "0000713095" "00000427" "90" "2098" "0" "2098" "0" "c.2098G>C" "r.(?)" "p.(Ala700Pro)" "15" "0000713096" "00000427" "90" "2118" "1" "2118" "1" "c.2118+1G>A" "r.spl" "p.?" "15i" "0000713097" "00000427" "90" "2119" "-2" "2119" "-2" "c.2119-2A>G" "r.spl" "p.?" "15i" "0000713098" "00000427" "90" "2123" "0" "2123" "0" "c.2123T>C" "r.(?)" "p.(Leu708Pro)" "16" "0000713099" "00000427" "90" "2258" "0" "2258" "0" "c.2258T>G" "r.(?)" "p.(Phe753Cys)" "17" "0000713100" "00000427" "90" "2321" "1" "2321" "1" "c.2321+1G>T" "r.spl" "p.?" "17i" "0000713101" "00000427" "90" "2321" "5" "2321" "5" "c.2321+5G>T" "r.spl" "p.?" "17i" "0000713102" "00000427" "90" "" "0" "" "0" "c.()_*{0}" "r.?" "p.?" "17i_48_" "0000713103" "00000427" "90" "2378" "0" "2378" "0" "c.2378dup" "r.(?)" "p.(Glu794Glyfs*54)" "19" "0000713104" "00000427" "90" "2387" "0" "2388" "0" "c.2387_2388del" "r.(?)" "p.(Glu796Glyfs*51)" "19" "0000713105" "00000427" "90" "2449" "0" "2449" "0" "c.2449G>T" "r.(?)" "p.(Glu817*)" "20" "0000713106" "00000427" "90" "2449" "0" "2449" "0" "c.2449G>T" "r.(?)" "p.(Glu817*)" "20" "0000713107" "00000427" "90" "2503" "0" "2503" "0" "c.2503G>T" "r.(?)" "p.(Glu835*)" "20" "0000713108" "00000427" "90" "2534" "0" "2534" "0" "c.2534T>A" "r.(?)" "p.(Ile845Asn)" "20" "0000713109" "00000427" "90" "2576" "1" "2576" "1" "c.2576+1G>A" "r.spl" "p.?" "20i" "0000713110" "00000427" "90" "2577" "-1" "2577" "-1" "c.2577-1G>A" "r.spl" "p.?" "20i" "0000713111" "00000427" "90" "2577" "-1" "2577" "-1" "c.2577-1G>A" "r.spl" "p.?" "20i" "0000713112" "00000427" "90" "2577" "-2" "2577" "-2" "c.2577-2A>T" "r.spl" "p.?" "20i" "0000713113" "00000427" "90" "2627" "0" "2627" "0" "c.2627T>G" "r.(?)" "p.(Leu876Arg)" "21" "0000713114" "00000427" "90" "2637" "0" "2638" "0" "c.2637_2638dup" "r.(?)" "p.(Phe880Cysfs*43)" "21" "0000713115" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "21" "0000713116" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "21" "0000713117" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "21" "0000713118" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "21" "0000713119" "00000427" "90" "2747" "0" "2747" "0" "c.2747C>G" "r.(?)" "p.(Thr916Ser)" "22" "0000713120" "00000427" "90" "2771" "0" "2772" "0" "c.2771_2772del" "r.(?)" "p.(Thr924Serfs*14)" "23" "0000713121" "00000427" "90" "2796" "0" "2797" "0" "c.2796_2797insT" "r.(?)" "p.(Gly933Trpfs*6)" "23" "0000713122" "00000427" "90" "2805" "0" "2805" "0" "c.2805del" "r.(?)" "p.(Cys936Alafs*30)" "23" "0000713123" "00000427" "90" "2812" "0" "2812" "0" "c.2812A>G" "r.(?)" "p.(Ser938Gly)" "23" "0000713124" "00000427" "90" "2822" "0" "2822" "0" "c.2822A>C" "r.(?)" "p.(Asn941Thr)" "23" "0000713125" "00000427" "90" "2829" "0" "2830" "0" "c.2829_2830delinsCT" "r.(?)" "p.(Leu943_Asp944delinsPheTyr)" "23" "0000713126" "00000427" "90" "2830" "0" "2830" "0" "c.2830G>T" "r.(?)" "p.(Asp944Tyr)" "23" "0000713127" "00000427" "90" "2854" "0" "2854" "0" "c.2854dup" "r.(?)" "p.(Leu952Profs*115)" "23" "0000713128" "00000427" "90" "2905" "0" "2905" "0" "c.2905C>T" "r.(?)" "p.(Arg969*)" "24" "0000713129" "00000427" "90" "2905" "0" "2905" "0" "c.2905C>T" "r.(?)" "p.(Arg969*)" "24" "0000713130" "00000427" "90" "2905" "0" "2905" "0" "c.2905C>T" "r.(?)" "p.(Arg969*)" "24" "0000713131" "00000427" "90" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "24" "0000713132" "00000427" "90" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "24" "0000713133" "00000427" "90" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "24" "0000713134" "00000427" "90" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "24" "0000713135" "00000427" "90" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "24" "0000713136" "00000427" "90" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "24" "0000713137" "00000427" "90" "2961" "1" "2961" "1" "c.2961+1G>A" "r.spl" "p.?" "24i" "0000713138" "00000427" "90" "2992" "0" "2992" "0" "c.2992C>T" "r.(?)" "p.(Arg998Trp)" "25" "0000713139" "00000427" "90" "3009" "0" "3011" "0" "c.3009_3011del" "r.(?)" "p.(Ile1003del)" "25" "0000713140" "00000427" "90" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Arg)" "25" "0000713141" "00000427" "90" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Arg)" "25" "0000713142" "00000427" "90" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Arg)" "25" "0000713143" "00000427" "90" "3121" "0" "3122" "2" "c.3121_3122+2del" "r.spl" "p.(Lys1041Glyfs*25)" "26" "0000713144" "00000427" "90" "3166" "0" "3166" "0" "c.3166dup" "r.(?)" "p.(Leu1056Profs*11)" "27" "0000713145" "00000427" "90" "3166" "0" "3166" "0" "c.3166dup" "r.(?)" "p.(Leu1056Profs*11)" "27" "0000713146" "00000427" "90" "3269" "1" "3269" "1" "c.3269+1G>A" "r.spl" "p.?" "27i" "0000713147" "00000427" "90" "3269" "1" "3269" "1" "c.3269+1G>A" "r.spl" "p.?" "27i" "0000713148" "00000427" "90" "3270" "-3" "3270" "-3" "c.3270-3C>G" "r.spl" "p.?" "27i" "0000713149" "00000427" "90" "3433" "0" "3433" "0" "c.3433G>A" "r.(?)" "p.(Glu1145Lys)" "28" "0000713150" "00000427" "90" "3440" "0" "3440" "0" "c.3440del" "r.(?)" "p.(Glu1147Glyfs*41)" "28" "0000713151" "00000427" "90" "3448" "0" "3457" "0" "c.3448_3457dup" "r.(?)" "p.(Leu1153Glnfs*3)" "28" "0000713152" "00000427" "90" "3469" "0" "3469" "0" "c.3469C>T" "r.(?)" "p.(Gln1157*)" "28" "0000713153" "00000427" "90" "3470" "0" "3470" "0" "c.3470A>G" "r.(?)" "p.(Gln1157Arg)" "28" "0000713154" "00000427" "90" "3471" "2" "3471" "2" "c.3471+2T>G" "r.spl" "p.?" "28i" "0000713155" "00000427" "90" "3482" "0" "3482" "0" "c.3482T>G" "r.(?)" "p.(Val1161Gly)" "29" "0000713156" "00000427" "90" "3491" "0" "3491" "0" "c.3491C>A" "r.(?)" "p.(Ala1164Asp)" "29" "0000713157" "00000427" "90" "3504" "0" "3505" "0" "c.3504_3505del" "r.(?)" "p.(Gln1168Hisfs*25)" "29" "0000713158" "00000427" "90" "3502" "0" "3502" "0" "c.3502C>T" "r.(?)" "p.(Gln1168*)" "29" "0000713159" "00000427" "90" "3551" "0" "3551" "0" "c.3551G>A" "r.(?)" "p.(Trp1184*)" "29" "0000713160" "00000427" "90" "3525" "0" "3525" "0" "c.3525dup" "r.(?)" "p.(Lys1176Glnfs*18)" "29" "0000713161" "00000427" "90" "3695" "0" "3695" "0" "c.3695T>G" "r.(?)" "p.(Leu1232Arg)" "30" "0000713162" "00000427" "90" "3721" "0" "3721" "0" "c.3721del" "r.(?)" "p.(Ile1241Serfs*26)" "30" "0000713163" "00000427" "90" "3751" "0" "3825" "54" "c.3751_3825+54del" "r.spl" "p.(Thr1251_Asn1275del)" "31_31i" "0000713164" "00000427" "90" "3847" "-1" "3847" "-1" "c.3847-1G>A" "r.spl" "p.?" "32i" "0000713165" "00000427" "90" "3935" "0" "3948" "0" "c.3935_3948delins3976-131_3993" "r.(?)" "p.(Gly1312_Pro1328delins16*)" "33" "0000713166" "00000427" "90" "3886" "0" "3886" "0" "c.3886C>T" "r.(?)" "p.(Arg1296Cys)" "33" "0000713167" "00000427" "90" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299*)" "33" "0000713168" "00000427" "90" "3954" "0" "3954" "0" "c.3954G>A" "r.(?)" "p.(Trp1318*)" "33" "0000713169" "00000427" "90" "3976" "-1" "3976" "-1" "c.3976-1G>C" "r.spl" "p.?" "33i" "0000713170" "00000427" "90" "4041" "1" "4041" "1" "c.4041+1G>A" "r.spl" "p.?" "34i" "0000713171" "00000427" "90" "4041" "5" "4041" "5" "c.4041+5G>A" "r.spl" "p.?" "34i" "0000713172" "00000427" "90" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Gly1350Val)" "35" "0000713173" "00000427" "90" "4084" "0" "4084" "0" "c.4084C>T" "r.(?)" "p.(Arg1362*)" "35" "0000713174" "00000427" "90" "4084" "0" "4084" "0" "c.4084C>T" "r.(?)" "p.(Arg1362*)" "35" "0000713175" "00000427" "90" "4084" "0" "4084" "0" "c.4084C>T" "r.(?)" "p.(Arg1362*)" "35" "0000713176" "00000427" "90" "4124" "0" "4124" "0" "c.4124T>A" "r.(?)" "p.(Leu1375His)" "35" "0000713177" "00000427" "90" "4134" "-1" "4134" "-1" "c.4134-1G>C" "r.spl" "p.?" "35i" "0000713178" "00000427" "90" "4259" "0" "4259" "0" "c.4259A>G" "r.(?)" "p.(Tyr1420Cys)" "36" "0000713179" "00000427" "90" "4376" "0" "4376" "0" "c.4376T>C" "r.(?)" "p.(Leu1459Pro)" "37" "0000713180" "00000427" "90" "4397" "0" "4397" "0" "c.4397G>T" "r.(?)" "p.(Trp1466Leu)" "37" "0000713181" "00000427" "90" "4422" "-1" "4422" "-1" "c.4422-1G>A" "r.spl" "p.?" "37i" "0000713182" "00000427" "90" "4457" "0" "4457" "0" "c.4457T>C" "r.(?)" "p.(Leu1486Pro)" "38" "0000713183" "00000427" "90" "4466" "0" "4466" "0" "c.4466del" "r.(?)" "p.(Ile1489Thrfs*23)" "38" "0000713184" "00000427" "90" "4487" "0" "4487" "0" "c.4487G>A" "r.(?)" "p.(Gly1496Glu)" "38" "0000713185" "00000427" "90" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "38" "0000713186" "00000427" "90" "4474" "0" "4474" "0" "c.4474C>G" "r.(?)" "p.(Pro1492Ala)" "38" "0000713187" "00000427" "90" "4474" "0" "4474" "0" "c.4474C>G" "r.(?)" "p.(Pro1492Ala)" "38" "0000713188" "00000427" "90" "4480" "0" "4480" "0" "c.4480G>A" "r.(?)" "p.(Gly1494Arg)" "38" "0000713189" "00000427" "90" "4518" "2" "4518" "2" "c.4518+2T>A" "r.spl" "p.?" "38i" "0000713190" "00000427" "90" "4523" "0" "4523" "0" "c.4523T>C" "r.(?)" "p.(Leu1508Pro)" "39" "0000713191" "00000427" "90" "4577" "0" "4577" "0" "c.4577C>A" "r.(?)" "p.(Thr1526Lys)" "39" "0000713192" "00000427" "90" "4580" "0" "4582" "0" "c.4580_4582delinsCC" "r.(?)" "p.(Leu1527Profs*9)" "39" "0000713193" "00000427" "90" "4594" "0" "4594" "0" "c.4594dup" "r.(?)" "p.(Arg1532Profs*37)" "39" "0000713194" "00000427" "90" "4594" "0" "4594" "0" "c.4594C>T" "r.(?)" "p.(Arg1532Trp)" "39" "0000713195" "00000427" "90" "4768" "0" "4768" "0" "c.4768C>T" "r.(?)" "p.(Gln1590*)" "41" "0000713196" "00000427" "90" "4818" "0" "4818" "0" "c.4818del" "r.(?)" "p.(Asn1607Thrfs*153)" "41" "0000713197" "00000427" "90" "4845" "0" "4845" "0" "c.4845del" "r.(?)" "p.(Ala1616Profs*144)" "41" "0000713198" "00000427" "90" "4900" "0" "4900" "0" "c.4900del" "r.(?)" "p.(Ala1634Profs*126)" "42" "0000713199" "00000427" "90" "5479" "0" "5479" "0" "c.5479C>T" "r.(?)" "p.(Arg1827*)" "46" "0000713200" "00000427" "90" "5641" "0" "5641" "0" "c.5641C>G" "r.(?)" "p.(Pro1881Ala)" "47" "0000713201" "00000427" "90" "5665" "0" "5665" "0" "c.5665del" "r.(?)" "p.(His1889Metfs*43)" "47" "0000713202" "00000427" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "2" "0000713203" "00000427" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Trp)" "2" "0000713204" "00000427" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "2" "0000713205" "00000427" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "2" "0000713206" "00000427" "90" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "2" "0000713207" "00000427" "90" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "2" "0000713208" "00000427" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Trp91*)" "2" "0000713209" "00000427" "90" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Ser229Pro)" "6" "0000713210" "00000427" "90" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "7" "0000713211" "00000427" "90" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "7" "0000713212" "00000427" "90" "1015" "-1" "1015" "-1" "c.1015-1G>T" "r.spl" "p.?" "7i" "0000713213" "00000427" "90" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ala434Val)" "9" "0000713214" "00000427" "90" "1485" "0" "1485" "0" "c.1485T>A" "r.(?)" "p.(Cys495*)" "11" "0000713215" "00000427" "90" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513*)" "13" "0000713216" "00000427" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625*)" "14" "0000713217" "00000427" "90" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691*)" "15" "0000713218" "00000427" "90" "2314" "0" "2314" "0" "c.2314A>T" "r.(?)" "p.(Lys772*)" "17" "0000713219" "00000427" "90" "2390" "0" "2390" "0" "c.2390A>T" "r.(?)" "p.(Glu797Val)" "19" "0000713220" "00000427" "90" "2390" "0" "2390" "0" "c.2390A>T" "r.(?)" "p.(Glu797Val)" "19" "0000713221" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "21" "0000713222" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "21" "0000713223" "00000427" "90" "2844" "0" "2844" "0" "c.2844del" "r.(?)" "p.(Ser949Valfs*17)" "23" "0000713224" "00000427" "90" "2923" "0" "2923" "0" "c.2923C>G" "r.(?)" "p.(Arg975Gly)" "24" "0000713225" "00000427" "90" "3212" "0" "3213" "0" "c.3212_3213del" "r.(?)" "p.(Asn1071Serfs*15)" "27" "0000713226" "00000427" "90" "3269" "1" "3269" "1" "c.3269+1G>A" "r.spl" "p.?" "27i" "0000713227" "00000427" "90" "3512" "0" "3512" "0" "c.3512del" "r.(?)" "p.(Arg1171Profs*17)" "29" "0000713228" "00000427" "90" "3666" "0" "3666" "0" "c.3666G>T" "r.(?)" "p.(Met1222Ile)" "30" "0000713229" "00000427" "90" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299*)" "33" "0000713230" "00000427" "90" "3896" "0" "3896" "0" "c.3896G>T" "r.(?)" "p.(Arg1299Leu)" "33" "0000713231" "00000427" "90" "4396" "0" "4396" "0" "c.4396T>C" "r.(?)" "p.(Trp1466Arg)" "37" "0000713232" "00000427" "90" "4438" "0" "4439" "0" "c.4438_4439del" "r.(?)" "p.(Leu1480Glyfs*88)" "38" "0000713233" "00000427" "90" "4579" "0" "4579" "0" "c.4579C>T" "r.(?)" "p.(Leu1527Phe)" "39" "0000713234" "00000427" "90" "4594" "0" "4594" "0" "c.4594C>T" "r.(?)" "p.(Arg1532Trp)" "39" "0000713235" "00000427" "90" "4874" "0" "4874" "0" "c.4874dup" "r.(?)" "p.(Asp1626Glyfs*5)" "42" "0000713320" "00025624" "90" "1304" "0" "1305" "0" "c.1304_1305insT" "r.(?)" "p.(Arg435Serfs*29)" "" "0000713320" "00000427" "90" "1337" "0" "1338" "0" "c.1337_1338insT" "r.(?)" "p.(Arg446Serfs*29)" "" "0000713362" "00025624" "90" "3853" "0" "3853" "0" "c.3853C>T" "r.(?)" "p.(Arg1285Cys)" "" "0000713362" "00000427" "90" "3886" "0" "3886" "0" "c.3886C>T" "r.(?)" "p.(Arg1296Cys)" "" "0000713364" "00025624" "90" "4439" "0" "4439" "0" "c.4439C>T" "r.(?)" "p.(Pro1480Leu)" "" "0000713364" "00000427" "90" "4472" "0" "4472" "0" "c.4472C>T" "r.(?)" "p.(Pro1491Leu)" "" "0000713389" "00025624" "90" "3308" "0" "3309" "0" "c.3308_3309del" "r.(?)" "p.(Ser1103Cysfs*38)" "" "0000713389" "00000427" "90" "3341" "0" "3342" "0" "c.3341_3342del" "r.(?)" "p.(Ser1114Cysfs*38)" "" "0000713404" "00025624" "90" "2872" "0" "2872" "0" "c.2872C>T" "r.(?)" "p.(Arg958*)" "" "0000713404" "00000427" "90" "2905" "0" "2905" "0" "c.2905C>T" "r.(?)" "p.(Arg969*)" "" "0000713407" "00025624" "90" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "" "0000713407" "00000427" "90" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "" "0000713578" "00025624" "90" "1505" "0" "1509" "0" "c.1505_1509del" "r.(?)" "p.(Arg502Glnfs*35)" "" "0000713578" "00000427" "90" "1538" "0" "1542" "0" "c.1538_1542del" "r.(?)" "p.(Arg513Glnfs*35)" "" "0000713592" "00025624" "90" "3180" "0" "3180" "0" "c.3180T>G" "r.(?)" "p.(Asn1060Lys)" "" "0000713592" "00000427" "90" "3213" "0" "3213" "0" "c.3213T>G" "r.(?)" "p.(Asn1071Lys)" "" "0000713612" "00025624" "90" "1463" "6" "1463" "7" "c.1463+6_1463+7del" "r.(=)" "p.(=)" "" "0000713612" "00000427" "90" "1496" "6" "1496" "7" "c.1496+6_1496+7del" "r.(=)" "p.(=)" "" "0000713620" "00025624" "90" "3595" "0" "3595" "0" "c.3595C>T" "r.(?)" "p.(Gln1199*)" "" "0000713620" "00000427" "90" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Gln1210*)" "" "0000713652" "00025624" "90" "2733" "1" "2733" "1" "c.2733+1G>A" "r.spl?" "p.?" "" "0000713652" "00000427" "90" "2766" "1" "2766" "1" "c.2766+1G>A" "r.spl?" "p.?" "" "0000713668" "00025624" "90" "1218" "0" "1218" "0" "c.1218del" "r.(?)" "p.(Trp407Glyfs*26)" "" "0000713668" "00000427" "90" "1218" "0" "1218" "0" "c.1218del" "r.(?)" "p.(Trp407Glyfs*37)" "" "0000713943" "00000427" "90" "4361" "0" "4361" "0" "c.4361T>G" "r.(?)" "p.(Leu1454Arg)" "" "0000713944" "00000427" "90" "3213" "0" "3214" "0" "c.3213_3214ins(?)" "r.(?)" "p.?" "" "0000713945" "00000427" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "" "0000714029" "00000427" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "" "0000714030" "00000427" "70" "4301" "0" "4301" "0" "c.4301A>G" "r.(?)" "p.(Asn1434Ser)" "" "0000714039" "00000427" "70" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "" "0000714040" "00000427" "70" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Gly1350Val)" "" "0000714041" "00000427" "70" "3289" "0" "3289" "0" "c.3289G>A" "r.(?)" "p.(Asp1097Asn)" "" "0000714042" "00000427" "70" "5372" "0" "5372" "0" "c.5372dup" "r.(?)" "p.(Leu1792Alafs*24)" "" "0000714043" "00000427" "70" "4472" "0" "4472" "0" "c.4472C>T" "r.(?)" "p.(Pro1491Leu)" "" "0000714044" "00000427" "70" "801" "0" "801" "0" "c.801C>A" "r.(?)" "p.(Cys267*)" "" "0000728984" "00025624" "30" "5511" "0" "5511" "0" "c.5511G>A" "r.(?)" "p.(Leu1837=)" "" "0000728984" "00000427" "30" "5544" "0" "5544" "0" "c.5544G>A" "r.(?)" "p.(Leu1848=)" "" "0000728985" "00025624" "50" "3816" "0" "3816" "0" "c.3816C>A" "r.(?)" "p.(Ser1272Arg)" "" "0000728985" "00000427" "50" "3849" "0" "3849" "0" "c.3849C>A" "r.(?)" "p.(Ser1283Arg)" "" "0000728986" "00025624" "30" "3237" "-10" "3237" "-10" "c.3237-10G>A" "r.(=)" "p.(=)" "" "0000728986" "00000427" "30" "3270" "-10" "3270" "-10" "c.3270-10G>A" "r.(=)" "p.(=)" "" "0000728987" "00025624" "70" "1567" "0" "1567" "0" "c.1567del" "r.(?)" "p.(Ala523Leufs*11)" "" "0000728987" "00000427" "70" "1600" "0" "1600" "0" "c.1600del" "r.(?)" "p.(Ala534Leufs*11)" "" "0000728988" "00025624" "50" "761" "0" "761" "0" "c.761T>C" "r.(?)" "p.(Ile254Thr)" "" "0000728988" "00000427" "50" "761" "0" "761" "0" "c.761T>C" "r.(?)" "p.(Ile254Thr)" "" "0000728989" "00025624" "50" "220" "0" "220" "0" "c.220T>C" "r.(?)" "p.(Cys74Arg)" "" "0000728989" "00000427" "50" "220" "0" "220" "0" "c.220T>C" "r.(?)" "p.(Cys74Arg)" "" "0000728990" "00025624" "50" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70Gln)" "" "0000728990" "00000427" "50" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70Gln)" "" "0000731333" "00000427" "70" "342" "0" "342" "0" "c.342del" "r.(?)" "p.(Phe115Serfs*22)" "" "0000732485" "00000427" "50" "5050" "0" "5050" "0" "c.5050G>T" "r.(?)" "p.(Gly1684Trp)" "" "0000732549" "00000427" "90" "2576" "1" "2576" "1" "c.2576+1G>A" "r.spl" "p.?" "" "0000732618" "00000427" "90" "1619" "0" "1619" "0" "c.1619T>C" "r.(?)" "p.(Phe540Ser)" "" "0000732689" "00025624" "70" "867" "0" "867" "0" "c.867G>A" "r.(=)" "p.(=)" "" "0000732689" "00000427" "70" "867" "0" "867" "0" "c.867G>A" "r.(=)" "p.(=)" "" "0000732873" "00000427" "70" "276" "0" "276" "0" "c.276del" "r.spl" "p.(Lys92Asnfs*9)" "" "0000732876" "00000427" "70" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513*)" "" "0000732877" "00000427" "70" "3471" "1" "3471" "1" "c.3471+1G>C" "r.spl" "p.?" "" "0000732878" "00000427" "70" "3166" "0" "3166" "0" "c.3166dup" "r.(?)" "p.(Leu1056Profs*11)" "" "0000734375" "00000427" "50" "3094" "0" "3094" "0" "c.3094G>A" "r.(?)" "p.(Glu1032Lys)" "" "0000735359" "00000427" "70" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "" "0000735596" "00000427" "70" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Gly1001Arg)" "" "0000736355" "00000427" "70" "3794" "0" "3794" "0" "c.3794G>T" "r.(?)" "p.(Ser1265Ile)" "32" "0000736820" "00000427" "50" "2442" "0" "2444" "0" "c.2442_2444dup" "r.(?)" "p.(Glu825dup)" "" "0000736821" "00000427" "50" "2457" "0" "2474" "0" "c.2457_2474dup" "r.(?)" "p.(Glu820_Glu825dup)" "" "0000760007" "00000427" "50" "4118" "0" "4118" "0" "c.4118T>C" "r.(?)" "p.(Val1373Ala)" "" "0000763958" "00000427" "70" "4347" "0" "4353" "0" "c.4347_4353del" "r.(?)" "p.(Arg1449SerfsTer36)" "" "0000763959" "00000427" "70" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513Ter)" "" "0000763960" "00000427" "70" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Ala1015Thr)" "" "0000763963" "00000427" "70" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895Ter)" "" "0000765447" "00000427" "90" "4519" "-1" "4519" "-1" "c.4519-1G>A" "r.(?)" "p.?" "" "0000765448" "00000427" "90" "4699" "0" "4699" "0" "c.4699del" "r.(?)" "p.(Asp1567MetfsTer22)" "" "0000765469" "00000427" "70" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "" "0000765470" "00000427" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Asp95Asn)" "" "0000765471" "00000427" "70" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Gly309Asp)" "" "0000765472" "00000427" "70" "2722" "0" "2722" "0" "c.2722G>T" "r.(?)" "p.(Asp908Tyr)" "" "0000765499" "00000427" "70" "3269" "0" "3269" "0" "c.3269C>T" "r.(?)" "p.(Ala1090Val)" "" "0000765909" "00000427" "70" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "" "0000783999" "00000427" "90" "3582" "0" "3582" "0" "c.3582C>G" "r.(?)" "p.(Tyr1194*)" "" "0000784000" "00000427" "90" "5704" "-5" "5704" "-5" "c.5704-5C>G" "r.spl" "p.?" "" "0000784651" "00000427" "50" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Ala472Val)" "" "0000786346" "00000427" "90" "2237" "0" "2237" "0" "c.2237A>C" "r.(?)" "p.(Asn746Thr)" "" "0000787686" "00000427" "70" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978Ter)" "" "0000787690" "00000427" "70" "1464" "0" "1464" "0" "c.1464G>T" "r.(?)" "p.(Glu488Asp)" "" "0000788430" "00000427" "50" "2754" "0" "2754" "0" "c.2754G>T" "r.(?)" "p.(Glu918Asp)" "22" "0000788489" "00000427" "50" "920" "0" "920" "0" "c.920A>G" "r.(?)" "p.(Asn307Ser)" "7" "0000789764" "00000427" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000790181" "00025624" "90" "2673" "3" "2673" "3" "c.2673+3G>A" "r.spl?" "p.?" "21i" "0000790181" "00000427" "90" "2706" "3" "2706" "3" "c.2706+3G>A" "r.spl?" "p.?" "" "0000790204" "00025624" "70" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "2" "0000790204" "00000427" "70" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "" "0000790205" "00025624" "70" "151" "0" "155" "0" "c.151_155del" "r.(?)" "p.(Arg51Profs*65)" "2" "0000790205" "00000427" "70" "151" "0" "155" "0" "c.151_155delAGAAA" "r.(?)" "p.(Arg51Profs*65)" "" "0000790206" "00025624" "70" "220" "0" "220" "0" "c.220T>C" "r.(?)" "p.(Cys74Arg)" "2" "0000790206" "00000427" "70" "220" "0" "220" "0" "c.220T>C" "r.(?)" "p.(Cys74Arg)" "" "0000790207" "00025624" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "2" "0000790207" "00000427" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "" "0000790208" "00025624" "70" "382" "-2" "382" "-2" "c.382-2A>G" "r.spl?" "p.?" "3i" "0000790208" "00000427" "70" "382" "-2" "382" "-2" "c.382-2A>G" "r.spl?" "p.?" "" "0000790209" "00025624" "70" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Gly150Arg)" "4" "0000790209" "00000427" "70" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Gly150Arg)" "" "0000790210" "00025624" "70" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Ser229Pro)" "6" "0000790210" "00000427" "70" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Ser229Pro)" "" "0000790211" "00025624" "70" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Gly261Arg)" "6" "0000790211" "00000427" "70" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Gly261Arg)" "" "0000790212" "00025624" "70" "832" "0" "832" "0" "c.832G>T" "r.(?)" "p.(Glu278*)" "7" "0000790212" "00000427" "70" "832" "0" "832" "0" "c.832G>T" "r.(?)" "p.(Glu278*)" "" "0000790213" "00025624" "70" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Arg302Alafs*13)" "7" "0000790213" "00000427" "70" "903" "0" "904" "0" "c.903_904insG" "r.(?)" "p.(Arg302Alafs*13)" "" "0000790214" "00025624" "70" "935" "0" "935" "0" "c.935del" "r.(?)" "p.(Asn312Thrfs*10)" "7" "0000790214" "00000427" "70" "935" "0" "935" "0" "c.935delA" "r.(?)" "p.(Asn312Thrfs*10)" "" "0000790215" "00025624" "90" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "7" "0000790215" "00000427" "90" "945" "0" "947" "0" "c.945_947delCTT" "r.(?)" "p.(Phe318del)" "" "0000790216" "00025624" "70" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Gly369Asp)" "8" "0000790216" "00000427" "70" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Gly369Asp)" "" "0000790217" "00025624" "70" "1213" "0" "1213" "0" "c.1213del" "r.(?)" "p.(Leu405Trpfs*28)" "9" "0000790217" "00000427" "70" "1213" "0" "1213" "0" "c.1213delC" "r.(?)" "p.(Leu405Trpfs*39)" "" "0000790218" "00025624" "70" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Gln428*)" "10" "0000790218" "00000427" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Gln439*)" "" "0000790219" "00025624" "30" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Gln)" "13" "0000790219" "00000427" "30" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "" "0000790220" "00025624" "30" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Gln)" "13" "0000790220" "00000427" "30" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "" "0000790221" "00025624" "70" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Arg614*)" "14" "0000790221" "00000427" "70" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625*)" "" "0000790222" "00025624" "70" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Val624Ile)" "14" "0000790222" "00000427" "70" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Val635Ile)" "" "0000790223" "00025624" "70" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Gly663Asp)" "15" "0000790223" "00000427" "70" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Gly674Asp)" "" "0000790224" "00025624" "70" "2038" "0" "2038" "0" "c.2038C>T" "r.(?)" "p.(Arg680*)" "15" "0000790224" "00000427" "70" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691*)" "" "0000790225" "00025624" "50" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Asn735Thr)" "16" "0000790225" "00000427" "50" "2237" "0" "2237" "0" "c.2237A>C" "r.(?)" "p.(Asn746Thr)" "" "0000790226" "00025624" "70" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "17" "0000790226" "00000427" "70" "2258" "0" "2258" "0" "c.2258T>G" "r.(?)" "p.(Phe753Cys)" "" "0000790227" "00025624" "70" "2387" "-1" "2387" "-1" "c.2387-1G>C" "r.spl?" "p.?" "19i" "0000790227" "00000427" "70" "2420" "-1" "2420" "-1" "c.2420-1G>C" "r.spl?" "p.?" "" "0000790228" "00025624" "70" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Leu849Pro)" "21" "0000790228" "00000427" "70" "2579" "0" "2579" "0" "c.2579T>C" "r.(?)" "p.(Leu860Pro)" "" "0000790229" "00025624" "70" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Arg884*)" "21" "0000790229" "00000427" "70" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "" "0000790230" "00025624" "30" "2673" "3" "2673" "3" "c.2673+3G>A" "r.spl?" "p.?" "21i" "0000790230" "00000427" "30" "2706" "3" "2706" "3" "c.2706+3G>A" "r.spl?" "p.?" "" "0000790232" "00025624" "30" "2673" "3" "2673" "3" "c.2673+3G>A" "r.spl?" "p.?" "21i" "0000790232" "00000427" "30" "2706" "3" "2706" "3" "c.2706+3G>A" "r.spl?" "p.?" "" "0000790233" "00025624" "70" "2674" "-3" "2674" "-2" "c.2674-3_2674-2delCA" "r.spl?" "p.?" "21i" "0000790233" "00000427" "70" "2707" "-3" "2707" "-2" "c.2707-3_2707-2delCA" "r.spl?" "p.?" "" "0000790234" "00025624" "70" "2733" "1" "2733" "1" "c.2733+1G>C" "r.spl?" "p.?" "22i" "0000790234" "00000427" "70" "2766" "1" "2766" "1" "c.2766+1G>C" "r.spl?" "p.?" "" "0000790235" "00025624" "70" "2750" "0" "2750" "0" "c.2750C>A" "r.(?)" "p.(Ala917Asp)" "23" "0000790235" "00000427" "70" "2783" "0" "2783" "0" "c.2783C>A" "r.(?)" "p.(Ala928Asp)" "" "0000790236" "00025624" "70" "2797" "0" "2797" "0" "c.2797G>T" "r.(?)" "p.(Asp933Tyr)" "23" "0000790236" "00000427" "70" "2830" "0" "2830" "0" "c.2830G>T" "r.(?)" "p.(Asp944Tyr)" "" "0000790237" "00025624" "70" "2872" "0" "2872" "0" "c.2872C>T" "r.(?)" "p.(Arg958*)" "24" "0000790237" "00000427" "70" "2905" "0" "2905" "0" "c.2905C>T" "r.(?)" "p.(Arg969*)" "" "0000790238" "00025624" "70" "2881" "0" "2881" "0" "c.2881C>T" "r.(?)" "p.(Arg961*)" "24" "0000790238" "00000427" "70" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972*)" "" "0000790239" "00025624" "90" "2899" "0" "2899" "0" "c.2899C>T" "r.(?)" "p.(Arg967*)" "24" "0000790239" "00000427" "90" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "" "0000790240" "00025624" "30" "2938" "1" "2938" "1" "c.2938+1G>A" "r.spl?" "p.?" "25" "0000790240" "00000427" "30" "2972" "0" "2972" "0" "c.2972G>A" "" "" "" "0000790241" "00025624" "70" "2976" "0" "2978" "0" "c.2976_2978del" "r.(?)" "p.(Ile992del)" "25" "0000790241" "00000427" "70" "3006" "0" "3008" "0" "c.3006_3008delCAT" "r.(?)" "p.(Ile1003del)" "" "0000790242" "00025624" "90" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Gly1007Arg)" "25" "0000790242" "00000427" "90" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Arg)" "" "0000790243" "00025624" "70" "3118" "0" "3118" "0" "c.3118del" "r.(?)" "p.(Asp1040Thrfs*26)" "27" "0000790243" "00000427" "70" "3151" "0" "3151" "0" "c.3151delG" "r.(?)" "p.(Asp1051Thrfs*26)" "" "0000790244" "00025624" "70" "3133" "0" "3133" "0" "c.3133dup" "r.(?)" "p.(Leu1045Profs*11)" "27" "0000790244" "00000427" "70" "3166" "0" "3167" "0" "c.3166_3167insC" "r.(?)" "p.(Leu1056Profs*11)" "" "0000790245" "00025624" "70" "3145" "0" "3145" "0" "c.3145C>T" "r.(?)" "p.(Arg1049Trp)" "27" "0000790245" "00000427" "70" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "" "0000790246" "00025624" "70" "3203" "0" "3203" "0" "c.3203T>C" "r.(?)" "p.(Leu1068Pro)" "27" "0000790246" "00000427" "70" "3236" "0" "3236" "0" "c.3236T>C" "r.(?)" "p.(Leu1079Pro)" "" "0000790247" "00025624" "70" "3400" "0" "3400" "0" "c.3400G>A" "r.(?)" "p.(Glu1134Lys)" "28" "0000790247" "00000427" "70" "3433" "0" "3433" "0" "c.3433G>A" "r.(?)" "p.(Glu1145Lys)" "" "0000790248" "00025624" "70" "3471" "0" "3472" "0" "c.3471_3472del" "r.(?)" "p.(Gln1157Hisfs*25)" "29" "0000790248" "00000427" "70" "3504" "0" "3505" "0" "c.3504_3505delGC" "r.(?)" "p.(Gln1168Hisfs*25)" "" "0000790249" "00025624" "70" "3640" "0" "3640" "0" "c.3640del" "r.(?)" "p.(Leu1214Serfs*42)" "30" "0000790249" "00000427" "70" "3672" "0" "3672" "0" "c.3672delC" "r.(?)" "p.(Leu1225Serfs*42)" "" "0000790250" "00025624" "70" "3658" "0" "3669" "0" "c.3658_3669del" "r.(?)" "p.(Gly1220_Thr1223del)" "30" "0000790250" "00000427" "70" "3691" "0" "3702" "0" "c.3691_3702delGGCCTCTTCACT" "r.(?)" "p.(Gly1231_Thr1234del)" "" "0000790251" "00025624" "70" "3761" "0" "3761" "0" "c.3761G>T" "r.(?)" "p.(Ser1254Ile)" "31" "0000790251" "00000427" "70" "3794" "0" "3794" "0" "c.3794G>T" "r.(?)" "p.(Ser1265Ile)" "" "0000790252" "00025624" "70" "3853" "0" "3853" "0" "c.3853C>A" "r.(?)" "p.(Arg1285Ser)" "33" "0000790252" "00000427" "70" "3886" "0" "3886" "0" "c.3886C>A" "r.(?)" "p.(Arg1296Ser)" "" "0000790253" "00025624" "70" "3862" "0" "3862" "0" "c.3862C>T" "r.(?)" "p.(Arg1288*)" "33" "0000790253" "00000427" "70" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299*)" "" "0000790254" "00025624" "70" "3942" "2" "3942" "2" "c.3942+2T>C" "r.spl?" "p.?" "33i" "0000790254" "00000427" "70" "3975" "2" "3975" "2" "c.3975+2T>C" "r.spl?" "p.?" "" "0000790255" "00025624" "70" "3942" "2" "3942" "2" "c.3942+2T>A" "r.spl?" "p.?" "33i" "0000790255" "00000427" "70" "3975" "2" "3975" "2" "c.3975+2T>A" "r.spl?" "p.?" "" "0000790256" "00025624" "70" "4042" "0" "4042" "0" "c.4042C>T" "r.(?)" "p.(Gln1348*)" "35" "0000790256" "00000427" "70" "4075" "0" "4075" "0" "c.4075C>T" "r.(?)" "p.(Gln1359*)" "" "0000790257" "00025624" "70" "4091" "0" "4091" "0" "c.4091T>A" "r.(?)" "p.(Leu1364His)" "35" "0000790257" "00000427" "70" "4124" "0" "4124" "0" "c.4124T>A" "r.(?)" "p.(Leu1375His)" "" "0000790258" "00025624" "70" "4101" "-1" "4101" "-1" "c.4101-1G>C" "r.spl?" "p.?" "35i" "0000790258" "00000427" "70" "4134" "-1" "4134" "-1" "c.4134-1G>C" "r.spl?" "p.?" "" "0000790259" "00025624" "70" "4320" "0" "4320" "0" "c.4320G>A" "r.(?)" "p.(Trp1440*)" "37" "0000790259" "00000427" "70" "4353" "0" "4353" "0" "c.4353G>A" "r.(?)" "p.(Trp1451*)" "" "0000790260" "00025624" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "38" "0000790260" "00000427" "70" "4495" "0" "4495" "0" "c.4495T>C" "r.(?)" "p.(Cys1499Arg)" "" "0000790261" "00025624" "70" "4466" "0" "4466" "0" "c.4466C>G" "r.(?)" "p.(Pro1489Arg)" "38" "0000790261" "00000427" "70" "4499" "0" "4499" "0" "c.4499C>G" "r.(?)" "p.(Pro1500Arg)" "" "0000790262" "00025624" "70" "4424" "0" "4424" "0" "c.4424T>C" "r.(?)" "p.(Leu1475Pro)" "38" "0000790262" "00000427" "70" "4457" "0" "4457" "0" "c.4457T>C" "r.(?)" "p.(Leu1486Pro)" "" "0000790263" "00025624" "70" "4441" "0" "4441" "0" "c.4441C>G" "r.(?)" "p.(Pro1481Ala)" "38" "0000790263" "00000427" "70" "4474" "0" "4474" "0" "c.4474C>G" "r.(?)" "p.(Pro1492Ala)" "" "0000790264" "00025624" "70" "4490" "0" "4490" "0" "c.4490T>C" "r.(?)" "p.(Leu1497Pro)" "39" "0000790264" "00000427" "70" "4523" "0" "4523" "0" "c.4523T>C" "r.(?)" "p.(Leu1508Pro)" "" "0000790265" "00025624" "70" "4548" "0" "4548" "0" "c.4548del" "r.(?)" "p.(Phe1517Leufs*8)" "39" "0000790265" "00000427" "70" "4581" "0" "4581" "0" "c.4581delC" "r.(?)" "p.(Phe1528Leufs*8)" "" "0000790266" "00025624" "70" "4590" "-2" "4590" "-2" "c.4590-2A>G" "r.spl?" "p.?" "39i" "0000790266" "00000427" "70" "4622" "-1" "4622" "-1" "c.4622-1A>G" "" "" "" "0000790267" "00025624" "70" "4771" "0" "4771" "0" "c.4771A>T" "r.(?)" "p.(Lys1591*)" "41" "0000790267" "00000427" "70" "4804" "0" "4804" "0" "c.4804A>T" "r.(?)" "p.(Lys1602*)" "" "0000790268" "00025624" "70" "5446" "0" "5446" "0" "c.5446C>T" "r.(?)" "p.(Arg1816*)" "46" "0000790268" "00000427" "70" "5479" "0" "5479" "0" "c.5479C>T" "r.(?)" "p.(Arg1827*)" "" "0000790269" "00025624" "70" "5632" "0" "5632" "0" "c.5632del" "r.(?)" "p.(His1878Metfs*43)" "47" "0000790269" "00000427" "70" "5665" "0" "5665" "0" "c.5665delC" "r.(?)" "p.(His1889Metfs*43)" "" "0000790291" "00025624" "50" "2038" "0" "2038" "0" "c.2038C>T" "r.(?)" "p.(Arg680*)" "15" "0000790291" "00000427" "50" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691*)" "" "0000790292" "00025624" "50" "4424" "0" "4424" "0" "c.4424T>C" "r.(?)" "p.(Leu1475Pro)" "38" "0000790292" "00000427" "50" "4457" "0" "4457" "0" "c.4457T>C" "r.(?)" "p.(Leu1486Pro)" "" "0000790888" "00000427" "70" "4499" "0" "4499" "0" "c.4499C>G" "r.(?)" "p.(Pro1500Arg)" "38" "0000790889" "00000427" "70" "4499" "0" "4499" "0" "c.4499C>G" "r.(?)" "p.(Pro1500Arg)" "38" "0000790890" "00000427" "70" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Trp349*)" "8" "0000790891" "00000427" "70" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Trp349*)" "8" "0000790893" "00000427" "70" "220" "0" "220" "0" "c.220T>C" "r.(?)" "p.(Cys74Arg)" "2" "0000790894" "00000427" "70" "220" "0" "220" "0" "c.220T>C" "r.(?)" "p.(Cys74Arg)" "2" "0000790895" "00000427" "70" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Gly359Arg)" "8" "0000790896" "00000427" "70" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Gly359Arg)" "8" "0000791162" "00000427" "50" "847" "0" "847" "0" "c.847T>C" "r.(?)" "p.(Cys283Arg)" "7" "0000792253" "00000427" "90" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Gln325*)" "7" "0000793837" "00000427" "70" "4361" "0" "4361" "0" "c.4361T>G" "r.(?)" "p.(Leu1454Arg)" "37" "0000793838" "00000427" "70" "3213" "0" "3214" "0" "c.3213_3214ins(?)" "r.(?)" "p.?" "27" "0000793839" "00000427" "70" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Gly150Arg)" "4" "0000793840" "00000427" "70" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "2" "0000793994" "00000427" "70" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Gly1001Arg)" "25" "0000793995" "00000427" "70" "1987" "0" "1989" "0" "c.1987_1989del" "r.(?)" "p.(Leu663del)" "15" "0000794199" "00025624" "70" "5446" "0" "5446" "0" "c.5446C>T" "r.(?)" "p.(Arg1816*)" "" "0000794199" "00000427" "70" "5479" "0" "5479" "0" "c.5479C>T" "r.(?)" "p.(Arg1827*)" "" "0000796314" "00000427" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Trp)" "2" "0000796315" "00000427" "90" "220" "0" "220" "0" "c.220T>C" "r.(?)" "p.(Cys74Arg)" "2" "0000796316" "00000427" "90" "244" "0" "245" "0" "c.244_245insG" "r.(?)" "p.(Arg83Thrfs*35)" "2" "0000796317" "00000427" "90" "281" "0" "281" "0" "c.281dup" "r.(?)" "p.(Asp95Argfs*23)" "3" "0000796318" "00000427" "90" "413" "0" "413" "0" "c.413del" "r.(?)" "p.(Phe138Serfs*65)" "4" "0000796319" "00000427" "90" "469" "0" "469" "0" "c.469G>C" "r.(?)" "p.(Ala157Pro)" "4" "0000796320" "00000427" "90" "621" "0" "1392" "0" "c.621_1392delinsCTCATTG" "r.?" "p.?" "5_10" "0000796321" "00000427" "90" "808" "0" "808" "0" "c.808del" "r.(?)" "p.(Leu270Trpfs*25)" "6" "0000796322" "00000427" "90" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "7" "0000796323" "00000427" "90" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Gly359Arg)" "8" "0000796324" "00000427" "90" "1118" "207" "5505" "306" "c.1118+207_5505+306del" "r.(?)" "p.(Glu374Valfs*96)" "8i_46i" "0000796325" "00000427" "90" "1135" "0" "1135" "0" "c.1135A>T" "r.(?)" "p.(Arg379*)" "9" "0000796326" "00000427" "90" "1496" "1" "1496" "1" "c.1496+1G>A" "r.spl?" "p.?" "11i" "0000796327" "00000427" "90" "1684" "1" "1684" "1" "c.1684+1G>A" "r.spl?" "p.?" "13i" "0000796328" "00000427" "90" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691*)" "15" "0000796329" "00000427" "90" "2246" "0" "2246" "0" "c.2246del" "r.(?)" "p.(Leu749Argfs*2)" "17" "0000796330" "00000427" "90" "2623" "0" "2624" "0" "c.2623_2624del" "r.(?)" "p.(Asn875Serfs*16)" "21" "0000796331" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "21" "0000796332" "00000427" "90" "2780" "0" "2780" "0" "c.2780G>C" "r.(?)" "p.(Gly927Ala)" "23" "0000796333" "00000427" "90" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "24" "0000796334" "00000427" "90" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Arg)" "25" "0000796335" "00000427" "90" "3341" "0" "3341" "0" "c.3341C>A" "r.(?)" "p.(Ser1114*)" "28" "0000796336" "00000427" "90" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299*)" "33" "0000796337" "00000427" "90" "4353" "0" "4353" "0" "c.4353G>A" "r.(?)" "p.(Trp1451*)" "37" "0000796338" "00000427" "90" "5337" "0" "5338" "0" "c.5337_5338insG" "r.(?)" "p.(Tyr1780Valfs*36)" "45" "0000796339" "00000427" "90" "3976" "-1" "4293" "1" "c.3976-1_4293+1del" "r.spl?" "p.?" "33i_36i" "0000797192" "00000427" "70" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "" "0000797415" "00000427" "70" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "" "0000797417" "00000427" "70" "3493" "0" "3493" "0" "c.3493dup" "r.(?)" "p.(Lys1176Glnfs*18)" "" "0000797551" "00000427" "90" "3886" "0" "3886" "0" "c.3886C>T" "r.(?)" "p.(Arg1296Cys)" "" "0000797552" "00000427" "70" "818" "-1" "818" "-1" "c.818-1G>A" "r.spl" "p.(?)" "" "0000797554" "00000427" "70" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625*)" "" "0000797555" "00000427" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "" "0000797557" "00000427" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "" "0000797955" "00000427" "70" "4396" "0" "4396" "0" "c.4396T>C" "r.(?)" "p.(Trp1466Arg)" "" "0000797956" "00000427" "50" "2237" "0" "2237" "0" "c.2237A>C" "r.(?)" "p.(Asn746Thr)" "" "0000797957" "00000427" "50" "3269" "3" "3269" "3" "c.3269+3G>A" "r.spl?" "p.(?)" "" "0000797995" "00000427" "50" "2237" "0" "2237" "0" "c.2237A>C" "r.(?)" "p.(Asn746Thr)" "" "0000798440" "00000427" "70" "4161" "0" "4161" "0" "c.4161G>T" "r.(?)" "p.(Glu1387Asp)" "36" "0000810469" "00025624" "70" "4485" "1" "4485" "1" "c.4485+1G>A" "r.spl?" "p.?" "" "0000810469" "00000427" "70" "4518" "1" "4518" "1" "c.4518+1G>A" "r.spl?" "p.?" "" "0000810470" "00025624" "50" "4429" "0" "4429" "0" "c.4429C>T" "r.(?)" "p.(Arg1477Cys)" "" "0000810470" "00000427" "50" "4462" "0" "4462" "0" "c.4462C>T" "r.(?)" "p.(Arg1488Cys)" "" "0000810471" "00025624" "30" "4180" "0" "4180" "0" "c.4180G>A" "r.(?)" "p.(Gly1394Ser)" "" "0000810471" "00000427" "30" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "" "0000810472" "00025624" "90" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Gly1007Arg)" "" "0000810472" "00000427" "90" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Arg)" "" "0000810473" "00025624" "30" "2433" "0" "2441" "0" "c.2433_2441del" "r.(?)" "p.(Glu812_Glu814del)" "" "0000810473" "00000427" "30" "2466" "0" "2474" "0" "c.2466_2474del" "r.(?)" "p.(Glu823_Glu825del)" "" "0000810474" "00025624" "30" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "" "0000810474" "00000427" "30" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Arg509His)" "" "0000810475" "00025624" "50" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Gly255Glu)" "" "0000810475" "00000427" "50" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Gly255Glu)" "" "0000810476" "00025624" "70" "522" "-16" "522" "-16" "c.522-16G>A" "r.(=)" "p.(=)" "" "0000810476" "00000427" "70" "522" "-16" "522" "-16" "c.522-16G>A" "r.(=)" "p.(=)" "" "0000811504" "00000427" "70" "4049" "0" "4049" "0" "c.4049G>A" "r.(?)" "p.(Gly1350Asp)" "" "0000812593" "00000427" "70" "1221" "0" "1221" "0" "c.1221G>A" "r.(?)" "p.(Trp407*)" "" "0000812792" "00000427" "70" "3998" "0" "3998" "0" "c.3998T>C" "r.(?)" "p.(Leu1333Pro)" "" "0000812834" "00000427" "70" "2834" "0" "2834" "0" "c.2834T>C" "r.(?)" "p.(Leu945Pro)" "" "0000813019" "00000427" "70" "4294" "-9" "4294" "-9" "c.4294-9G>A" "r.spl?" "p.(?)" "" "0000813656" "00025624" "90" "1653" "0" "1653" "0" "c.1653G>A" "r.(=)" "p.(=)" "" "0000813656" "00000427" "90" "1686" "0" "1686" "0" "c.1686G>A" "r.(?)" "p.(Glu562=)" "" "0000814966" "00025624" "70" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ser360Phe)" "" "0000814966" "00000427" "70" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ser360Phe)" "8" "0000814969" "00025624" "70" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ser360Phe)" "" "0000814969" "00000427" "70" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ser360Phe)" "8" "0000815495" "00025624" "50" "345" "0" "345" "0" "c.345C>G" "r.(?)" "p.(Phe115Leu)" "" "0000815495" "00000427" "50" "345" "0" "345" "0" "c.345C>G" "r.(?)" "p.(Phe115Leu)" "" "0000815539" "00025624" "50" "2407" "0" "2415" "0" "c.2407_2415dup" "r.(?)" "p.(Glu812_Glu814dup)" "" "0000815539" "00000427" "50" "2466" "0" "2474" "0" "c.2466_2474dup" "r.(?)" "p.(Glu823_Glu825dup)" "" "0000815557" "00025624" "50" "3623" "0" "3623" "0" "c.3623A>G" "r.(?)" "p.(Asn1208Ser)" "" "0000815557" "00000427" "50" "3656" "0" "3656" "0" "c.3656A>G" "r.(?)" "p.(Asn1219Ser)" "" "0000815569" "00025624" "50" "2407" "0" "2415" "0" "c.2407_2415dup" "r.(?)" "p.(Glu812_Glu814dup)" "" "0000815569" "00000427" "50" "2466" "0" "2474" "0" "c.2466_2474dup" "r.(?)" "p.(Glu823_Glu825dup)" "" "0000816073" "00000427" "90" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513*)" "" "0000816110" "00000427" "90" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972*)" "" "0000817652" "00025624" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "" "0000817652" "00000427" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Ter)" "" "0000819616" "00025624" "70" "396" "0" "396" "0" "c.396C>A" "r.(?)" "p.(Tyr132*)" "" "0000819616" "00000427" "70" "396" "0" "396" "0" "c.396C>A" "r.(?)" "p.(Tyr132*)" "" "0000819617" "00025624" "70" "396" "0" "396" "0" "c.396C>A" "r.(?)" "p.(Tyr132*)" "" "0000819617" "00000427" "70" "396" "0" "396" "0" "c.396C>A" "r.(?)" "p.(Tyr132*)" "" "0000819657" "00025624" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "" "0000819657" "00000427" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "" "0000819693" "00025624" "70" "1118" "1" "1118" "1" "c.1118+1G>C" "r.spl?" "p.?" "" "0000819693" "00000427" "70" "1118" "1" "1118" "1" "c.1118+1G>C" "r.spl" "p.(?)" "" "0000819694" "00025624" "70" "1118" "1" "1118" "1" "c.1118+1G>C" "r.spl?" "p.?" "" "0000819694" "00000427" "70" "1118" "1" "1118" "1" "c.1118+1G>C" "r.spl" "p.(?)" "" "0000819715" "00025624" "70" "2086" "-2" "2086" "-2" "c.2086-2A>G" "r.spl?" "p.?" "" "0000819715" "00000427" "70" "2119" "-2" "2119" "-2" "c.2119-2A>G" "r.spl" "p.(?)" "" "0000819716" "00025624" "70" "2086" "-2" "2086" "-2" "c.2086-2A>G" "r.spl?" "p.?" "" "0000819716" "00000427" "70" "2119" "-2" "2119" "-2" "c.2119-2A>G" "r.spl" "p.(?)" "" "0000819717" "00025624" "70" "2086" "-2" "2086" "-2" "c.2086-2A>G" "r.spl?" "p.?" "" "0000819717" "00000427" "70" "2119" "-2" "2119" "-2" "c.2119-2A>G" "r.spl" "p.(?)" "" "0000819722" "00025624" "70" "5372" "0" "5372" "0" "c.5372C>T" "r.(?)" "p.(Ser1791Phe)" "" "0000819722" "00000427" "70" "5405" "0" "5405" "0" "c.5405C>T" "r.(?)" "p.(Ser1802Phe)" "" "0000821174" "00025624" "70" "1305" "0" "1306" "0" "c.1305_1306insT" "r.(?)" "p.(Arg436*)" "" "0000821174" "00000427" "70" "1338" "0" "1339" "0" "c.1338_1339insT" "r.(?)" "p.(Arg447*)" "" "0000821175" "00025624" "70" "3853" "0" "3853" "0" "c.3853C>T" "r.(?)" "p.(Arg1285Cys)" "" "0000821175" "00000427" "70" "3886" "0" "3886" "0" "c.3886C>T" "r.(?)" "p.(Arg1296Cys)" "" "0000821176" "00025624" "70" "4439" "0" "4439" "0" "c.4439C>T" "r.(?)" "p.(Pro1480Leu)" "" "0000821176" "00000427" "70" "4472" "0" "4472" "0" "c.4472C>T" "r.(?)" "p.(Pro1491Leu)" "" "0000821177" "00025624" "70" "3308" "0" "3309" "0" "c.3308_3309del" "r.(?)" "p.(Ser1103Cysfs*38)" "" "0000821177" "00000427" "70" "3341" "0" "3342" "0" "c.3341_3342del" "r.(?)" "p.(Ser1114Cysfs*38)" "" "0000821178" "00025624" "70" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "" "0000821178" "00000427" "70" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "" "0000821179" "00025624" "90" "2872" "0" "2872" "0" "c.2872C>T" "r.(?)" "p.(Arg958*)" "" "0000821179" "00000427" "90" "2905" "0" "2905" "0" "c.2905C>T" "r.(?)" "p.(Arg969*)" "" "0000821180" "00025624" "70" "945" "0" "947" "0" "c.945_947del" "r.(?)" "p.(Phe318del)" "" "0000821180" "00000427" "70" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "" "0000821181" "00025624" "90" "1502" "0" "1506" "0" "c.1502_1506del" "r.(?)" "p.(Arg502Glnfs*35)" "" "0000821181" "00000427" "90" "1538" "0" "1542" "0" "c.1538_1542del" "r.(?)" "p.(Arg513Glnfs*35)" "" "0000821182" "00025624" "70" "3180" "0" "3180" "0" "c.3180T>G" "r.(?)" "p.(Asn1060Lys)" "" "0000821182" "00000427" "70" "3213" "0" "3213" "0" "c.3213T>G" "r.(?)" "p.(Asn1071Lys)" "" "0000821183" "00025624" "70" "1431" "0" "1463" "5" "c.1431_1463+5del" "r.?" "p.?" "" "0000821183" "00000427" "70" "1466" "0" "1496" "7" "c.1466_1496+7del" "r.spl" "p.(?)" "" "0000821184" "00025624" "70" "3595" "0" "3595" "0" "c.3595C>T" "r.(?)" "p.(Gln1199*)" "" "0000821184" "00000427" "70" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Gln1210*)" "" "0000821185" "00025624" "70" "2733" "1" "2733" "1" "c.2733+1G>A" "r.spl?" "p.?" "" "0000821185" "00000427" "70" "2766" "1" "2766" "1" "c.2766+1G>A" "r.spl" "p.(?)" "" "0000821186" "00025624" "90" "1218" "0" "1218" "0" "c.1218del" "r.(?)" "p.(Trp407Glyfs*26)" "" "0000821186" "00000427" "90" "1218" "0" "1218" "0" "c.1218del" "r.(?)" "p.(Trp407Glyfs*37)" "" "0000822677" "00025624" "70" "2737" "0" "2738" "0" "c.2737_2738del" "r.(?)" "p.(Thr913Serfs*14)" "" "0000822677" "00000427" "70" "2771" "0" "2772" "0" "c.2771_2772del" "r.(?)" "p.(Thr924Serfs*14)" "23" "0000823208" "00025624" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "" "0000823208" "00000427" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "" "0000823209" "00025624" "50" "2038" "0" "2038" "0" "c.2038C>T" "r.(?)" "p.(Arg680*)" "" "0000823209" "00000427" "50" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691*)" "" "0000823210" "00025624" "50" "2234" "0" "2234" "0" "c.2234T>C" "r.(?)" "p.(Ile745Thr)" "" "0000823210" "00000427" "50" "2267" "0" "2267" "0" "c.2267T>C" "r.(?)" "p.(Ile756Thr)" "" "0000823211" "00025624" "90" "2616" "0" "2616" "0" "c.2616dup" "r.(?)" "p.(Ser873Glnfs*8)" "" "0000823211" "00000427" "90" "2649" "0" "2649" "0" "c.2649dup" "r.(?)" "p.(Ser884Glnfs*8)" "" "0000823212" "00025624" "50" "2973" "0" "2975" "0" "c.2973_2975del" "r.(?)" "p.(Ile992del)" "" "0000823212" "00000427" "50" "3009" "0" "3011" "0" "c.3009_3011del" "r.(?)" "p.(Ile1003del)" "" "0000823213" "00025624" "90" "4589" "-2" "4589" "-2" "c.4589-2A>T" "r.spl?" "p.?" "" "0000823213" "00000427" "90" "4622" "-2" "4622" "-2" "c.4622-2A>T" "r.spl" "p.(?)" "" "0000824677" "00025624" "50" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ser660Cys)" "" "0000824677" "00000427" "50" "2012" "0" "2012" "0" "c.2012C>G" "r.(?)" "p.(Ser671Cys)" "" "0000824710" "00025624" "50" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ser660Cys)" "" "0000824710" "00000427" "50" "2012" "0" "2012" "0" "c.2012C>G" "r.(?)" "p.(Ser671Cys)" "" "0000826272" "00000427" "70" "2707" "-3" "2707" "-3" "c.2707-3C>T" "r.spl?" "p.?" "21i" "0000827004" "00025624" "70" "1652" "-1" "1652" "-1" "c.1652-1G>C" "r.spl?" "p.?" "" "0000827004" "00000427" "70" "1685" "-1" "1685" "-1" "c.1685-1G>C" "r.spl" "p.(?)" "" "0000827005" "00025624" "70" "1652" "-1" "1652" "-1" "c.1652-1G>C" "r.spl?" "p.?" "" "0000827005" "00000427" "70" "1685" "-1" "1685" "-1" "c.1685-1G>C" "r.spl" "p.(?)" "" "0000827006" "00025624" "70" "1652" "-1" "1652" "-1" "c.1652-1G>C" "r.spl?" "p.?" "" "0000827006" "00000427" "70" "1685" "-1" "1685" "-1" "c.1685-1G>C" "r.spl" "p.(?)" "" "0000828867" "00025624" "90" "3835" "0" "3836" "0" "c.3835_3836del" "r.(?)" "p.(Ile1279Phefs*19)" "" "0000828867" "00000427" "90" "3901" "0" "3902" "0" "c.3901_3902del" "r.(?)" "p.(Met1301Alafs*8)" "" "0000829962" "00000427" "50" "3334" "0" "3334" "0" "c.3334G>T" "r.(?)" "p.(Glu1112*)" "28" "0000829963" "00000427" "50" "3346" "0" "3346" "0" "c.3346T>G" "r.(?)" "p.(Phe1116Val)" "28" "0000836583" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "" "0000840218" "00000427" "90" "3631" "-133" "3741" "181" "c.3631-133_3741+181del" "r.(?)" "p.(Glu1213_Tyr1249del)" "29i_30i" "0000840219" "00000427" "90" "3472" "-1" "3472" "-1" "c.3472-1del" "r.spl?" "p.?" "28i" "0000840220" "00000427" "90" "1807" "0" "1807" "0" "c.1807G>C" "r.(?)" "p.(Gly603Arg)" "14" "0000840221" "00000427" "90" "1807" "0" "1807" "0" "c.1807G>C" "r.(?)" "p.(Gly603Arg)" "14" "0000840222" "00000427" "90" "1807" "0" "1807" "0" "c.1807G>C" "r.(?)" "p.(Gly603Arg)" "14" "0000840223" "00000427" "90" "3166" "0" "3166" "0" "c.3166dup" "r.(?)" "p.(Leu1056Profs*11)" "27" "0000840224" "00000427" "70" "4548" "0" "4548" "0" "c.4548del" "r.(?)" "p.(Ser1517Glnfs*5)" "39" "0000840225" "00000427" "90" "2234" "0" "2234" "0" "c.2234T>C" "r.(?)" "p.?" "16" "0000840226" "00000427" "90" "2324" "0" "3124" "0" "c.2324_3124del" "r.(?)" "p.(Glu775_Lys1041del)" "18_27" "0000840227" "00000427" "90" "2324" "0" "3124" "0" "c.2324_3124del" "r.(?)" "p.(Glu775_Lys1041del)" "18_27" "0000840228" "00000427" "90" "2324" "0" "3124" "0" "c.2324_3124del" "r.(?)" "p.(Glu775_Lys1041del)" "18_27" "0000840229" "00000427" "90" "2324" "0" "3124" "0" "c.2324_3124del" "r.(?)" "p.(Glu775_Lys1041del)" "18_27" "0000840230" "00000427" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Gly369Asp)" "8" "0000840231" "00000427" "90" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Cys508Tyr)" "12" "0000840232" "00000427" "90" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Cys508Tyr)" "12" "0000840233" "00000427" "90" "2172" "0" "2172" "0" "c.2172C>T" "r.(?)" "p.?" "16" "0000840234" "00000427" "90" "3133" "0" "3133" "0" "c.3133dup" "r.(?)" "p.(Leu1045Profs*22)" "27" "0000840235" "00000427" "90" "3145" "0" "3145" "0" "c.3145C>T" "r.(?)" "p.?" "27" "0000840236" "00000427" "90" "3658" "0" "3669" "0" "c.3658_3669del" "r.(?)" "p.(Tyr1220_Asp1223del)" "30" "0000840237" "00000427" "90" "4042" "0" "4042" "0" "c.4042C>T" "r.(?)" "p.?" "35" "0000840238" "00000427" "90" "4091" "0" "4091" "0" "c.4091T>A" "r.(?)" "p.?" "35" "0000840239" "00000427" "90" "4771" "0" "4771" "0" "c.4771A>T" "r.(?)" "p.?" "41" "0000840240" "00000427" "90" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Arg519Trp)" "13" "0000840241" "00000427" "90" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.?" "7" "0000840246" "00000427" "90" "4487" "0" "4487" "0" "c.4487G>A" "r.(?)" "p.(Gly1496Glu)" "38" "0000840249" "00000427" "90" "3825" "1" "3825" "1" "c.3825+1G>A" "r.spl?" "p.?" "31i" "0000840250" "00000427" "90" "3825" "1" "3825" "1" "c.3825+1G>A" "r.spl?" "p.?" "31i" "0000840251" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "16" "0000840252" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "16" "0000840253" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "16" "0000840254" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "16" "0000840255" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "16" "0000840256" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "16" "0000840257" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "16" "0000840258" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "16" "0000840259" "00000427" "90" "2225" "0" "2225" "0" "c.2225T>G" "r.(?)" "p.(Phe742Cys)" "16" "0000840260" "00000427" "90" "33" "0" "33" "0" "c.33del" "r.(?)" "p.(Pro12Glnfs*34)" "2" "0000840261" "00000427" "90" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.?" "20" "0000840262" "00000427" "90" "33" "0" "33" "0" "c.33del" "r.(?)" "p.(Pro12Glnfs*34)" "2" "0000840263" "00000427" "90" "33" "0" "33" "0" "c.33del" "r.(?)" "p.(Pro12Glnfs*34)" "2" "0000840264" "00000427" "90" "33" "0" "33" "0" "c.33del" "r.(?)" "p.(Pro12Glnfs*34)" "2" "0000840265" "00000427" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.?" "30" "0000840266" "00000427" "90" "4157" "0" "4157" "0" "c.4157G>A" "r.(?)" "p.?" "36" "0000840267" "00000427" "90" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Gly255Glu)" "6" "0000840268" "00000427" "90" "2090" "0" "2090" "0" "c.2090T>C" "r.(?)" "p.(Phe697Ser)" "15" "0000840269" "00000427" "90" "2821" "0" "2821" "0" "c.2821dupC" "r.(?)" "p.?" "23" "0000840270" "00000427" "90" "4547" "0" "4549" "0" "c.4547_4549delinsCC" "r.(?)" "p.(Asn1516Thrfs*6)" "39" "0000840271" "00000427" "90" "2928" "1" "2928" "1" "c.2928+1G>A" "r.spl?" "p.?" "24" "0000841458" "00000427" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50*)" "2" "0000841459" "00000427" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "2" "0000841460" "00000427" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000841461" "00000427" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000841462" "00000427" "90" "522" "-2" "522" "-2" "c.522-2A>G" "r.spl?" "p.?" "4i" "0000841463" "00000427" "90" "952" "0" "954" "0" "c.952_954del" "r.(?)" "p.(Phe318del)" "7" "0000841464" "00000427" "90" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Gly369Asp)" "8" "0000841465" "00000427" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625*)" "14" "0000841466" "00000427" "90" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Gly674Asp)" "15" "0000841467" "00000427" "90" "2683" "0" "2683" "0" "c.2683C>T" "r.(?)" "p.(Arg895*)" "21" "0000841468" "00000427" "90" "2783" "0" "2783" "0" "c.2783C>A" "r.(?)" "p.(Ala928Asp)" "23" "0000841469" "00000427" "90" "2961" "1" "2961" "1" "c.2961+1G>A" "r.spl?" "p.?" "24i" "0000841470" "00000427" "90" "3009" "0" "3011" "0" "c.3009_3011del" "r.(?)" "p.(Ile1003del)" "25" "0000841471" "00000427" "90" "2783" "0" "2783" "0" "c.2783C>A" "r.(?)" "p.(Ala928Asp)" "23" "0000841472" "00000427" "90" "4724" "-2" "4724" "-2" "c.4724-2A>G" "r.spl?" "p.?" "40i" "0000841473" "00000427" "90" "5665" "0" "5665" "0" "c.5665del" "r.(=)" "p.(=)" "47" "0000841474" "00000427" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(=)" "p.(=)" "14" "0000841475" "00000427" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(=)" "p.(=)" "14" "0000841476" "00000427" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(=)" "p.(=)" "14" "0000841477" "00000427" "30" "3309" "0" "3309" "0" "c.3309T>C" "r.(=)" "p.(=)" "28" "0000841478" "00000427" "30" "3309" "0" "3309" "0" "c.3309T>C" "r.(=)" "p.(=)" "28" "0000841479" "00000427" "30" "3309" "0" "3309" "0" "c.3309T>C" "r.(=)" "p.(=)" "28" "0000841480" "00000427" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(=)" "p.(=)" "14" "0000841481" "00000427" "30" "3309" "0" "3309" "0" "c.3309T>C" "r.(=)" "p.(=)" "28" "0000841482" "00000427" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(=)" "p.(=)" "14" "0000841483" "00000427" "30" "3309" "0" "3309" "0" "c.3309T>C" "r.(=)" "p.(=)" "28" "0000841484" "00000427" "30" "5789" "0" "5789" "0" "c.5789G>A" "r.(?)" "p.(Arg1930His)" "48" "0000841485" "00000427" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(=)" "p.(=)" "14" "0000841486" "00000427" "30" "3309" "0" "3309" "0" "c.3309T>C" "r.(=)" "p.(=)" "28" "0000841487" "00000427" "90" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Gly674Asp)" "15" "0000841488" "00000427" "90" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Gly674Asp)" "15" "0000841489" "00000427" "90" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Gly674Asp)" "15" "0000841490" "00000427" "90" "904" "0" "905" "0" "c.904_905insG" "r.(?)" "p.(Trp303Leufs*12)" "7" "0000841491" "00000427" "90" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978*)" "24" "0000841492" "00000427" "90" "2766" "1" "2766" "1" "c.2766+1G>C" "r.spl?" "p.?" "22i" "0000841493" "00000427" "90" "466" "0" "469" "0" "c.466_469delins(34)" "r.(?)" "p.?" "4" "0000841494" "00000427" "70" "151" "0" "155" "0" "c.151_155del5" "r.(?)" "p.(Arg51Profs*65)" "2" "0000841495" "00000427" "70" "220" "0" "220" "0" "c.220T>C" "r.(?)" "p.(Cys74Arg)" "2" "0000841496" "00000427" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "2" "0000841497" "00000427" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82*)" "2" "0000841498" "00000427" "70" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Ser229Pro)" "6" "0000841499" "00000427" "70" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Gly261Arg)" "6" "0000841500" "00000427" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Gln439*)" "10" "0000841501" "00000427" "70" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625*)" "14" "0000841502" "00000427" "70" "2258" "0" "2258" "0" "c.2258T>G" "r.(?)" "p.(Phe753Cys)" "17" "0000841503" "00000427" "70" "2420" "-1" "2420" "-1" "c.2420-1G>C" "r.spl?" "p.?" "19i" "0000841504" "00000427" "70" "2579" "0" "2579" "0" "c.2579T>C" "r.(?)" "p.(Leu860Pro)" "21" "0000841505" "00000427" "70" "2706" "3" "2706" "3" "c.2706+3G>A" "r.spl?" "p.?" "21i" "0000841506" "00000427" "70" "2706" "3" "2706" "3" "c.2706+3G>A" "r.spl?" "p.?" "21i" "0000841507" "00000427" "70" "2707" "-3" "2707" "-2" "c.2707-3_2707-2del" "r.spl?" "p.?" "21i" "0000841508" "00000427" "70" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Arg)" "25" "0000841509" "00000427" "70" "3236" "0" "3236" "0" "c.3236T>C" "r.(?)" "p.(Leu1079Pro)" "27" "0000841510" "00000427" "70" "3691" "0" "3702" "0" "c.3691_3702del" "r.(?)" "p.(Gly1231_Thr1234del)" "30" "0000841511" "00000427" "70" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299*)" "33" "0000841512" "00000427" "70" "3975" "2" "3975" "2" "c.3975+2T>C" "r.spl?" "p.?" "33i" "0000841513" "00000427" "70" "3975" "2" "3975" "2" "c.3975+2T>A" "r.spl?" "p.?" "33i" "0000841514" "00000427" "70" "4134" "-1" "4134" "-1" "c.4134-1G>C" "r.spl?" "p.?" "35i" "0000841515" "00000427" "70" "4495" "0" "4495" "0" "c.4495T>C" "r.(?)" "p.(Cys1499Arg)" "38" "0000841516" "00000427" "70" "4499" "0" "4499" "0" "c.4499C>G" "r.(?)" "p.(Pro1500Arg)" "38" "0000841517" "00000427" "70" "4499" "0" "4499" "0" "c.4499C>G" "r.(?)" "p.(Pro1500Arg)" "38" "0000841518" "00000427" "70" "4523" "0" "4523" "0" "c.4523T>C" "r.(?)" "p.(Leu1508Pro)" "39" "0000841519" "00000427" "70" "5479" "0" "5479" "0" "c.5479C>T" "r.(?)" "p.(Arg1827*)" "46" "0000841520" "00000427" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000856668" "00025624" "50" "10857" "0" "10857" "0" "c.*4956T>A" "r.(=)" "p.(=)" "" "0000856668" "00000427" "50" "10890" "0" "10890" "0" "c.*4956T>A" "r.(=)" "p.(=)" "" "0000856669" "00025624" "50" "5721" "0" "5721" "0" "c.5721G>A" "r.(?)" "p.(Val1907=)" "" "0000856669" "00000427" "50" "5754" "0" "5754" "0" "c.5754G>A" "r.(?)" "p.(Val1918=)" "" "0000856670" "00025624" "50" "5519" "0" "5519" "0" "c.5519C>T" "r.(?)" "p.(Pro1840Leu)" "" "0000856670" "00000427" "50" "5552" "0" "5552" "0" "c.5552C>T" "r.(?)" "p.(Pro1851Leu)" "" "0000856671" "00025624" "50" "4561" "0" "4561" "0" "c.4561C>A" "r.(?)" "p.(Arg1521=)" "" "0000856671" "00000427" "50" "4594" "0" "4594" "0" "c.4594C>A" "r.(?)" "p.(Arg1532=)" "" "0000856672" "00025624" "50" "2804" "0" "2804" "0" "c.2804T>C" "r.(?)" "p.(Leu935Pro)" "" "0000856672" "00000427" "50" "2837" "0" "2837" "0" "c.2837T>C" "r.(?)" "p.(Leu946Pro)" "" "0000856673" "00025624" "50" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Arg439His)" "" "0000856673" "00000427" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" "0000856674" "00025624" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Pro30=)" "" "0000856674" "00000427" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Pro30=)" "" "0000867426" "00025624" "30" "4588" "7" "4588" "7" "c.4588+7G>A" "r.(=)" "p.(=)" "" "0000867426" "00000427" "30" "4621" "7" "4621" "7" "c.4621+7G>A" "r.(=)" "p.(=)" "" "0000867427" "00025624" "50" "4222" "0" "4222" "0" "c.4222G>A" "r.(?)" "p.(Ala1408Thr)" "" "0000867427" "00000427" "50" "4255" "0" "4255" "0" "c.4255G>A" "r.(?)" "p.(Ala1419Thr)" "" "0000867428" "00025624" "50" "2777" "0" "2777" "0" "c.2777G>A" "r.(?)" "p.(Arg926His)" "" "0000867428" "00000427" "50" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937His)" "" "0000867429" "00025624" "50" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Arg510Cys)" "" "0000867429" "00000427" "50" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "" "0000867430" "00025624" "50" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Met397Val)" "" "0000867430" "00000427" "50" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Met397Val)" "" "0000867431" "00025624" "50" "1138" "0" "1138" "0" "c.1138G>C" "r.(?)" "p.(Glu380Gln)" "" "0000867431" "00000427" "50" "1138" "0" "1138" "0" "c.1138G>C" "r.(?)" "p.(Glu380Gln)" "" "0000869988" "00025624" "70" "3133" "0" "3133" "0" "c.3133dup" "r.(?)" "p.(Leu1045Profs*11)" "" "0000869988" "00000427" "70" "3166" "0" "3166" "0" "c.3166dup" "r.(?)" "p.(Leu1056Profs*11)" "" "0000879043" "00000427" "90" "425" "0" "425" "0" "c.425dup" "r.(?)" "p.(Val143Glyfs*156)" "" "0000880624" "00025624" "50" "5848" "0" "5848" "0" "c.5848C>T" "r.(?)" "p.(Arg1950Cys)" "" "0000880624" "00000427" "50" "5881" "0" "5881" "0" "c.5881C>T" "r.(?)" "p.(Arg1961Cys)" "" "0000881416" "00000427" "50" "3214" "0" "3214" "0" "c.3214G>C" "r.(?)" "p.(Val1072Leu)" "" "0000896268" "00025624" "30" "4691" "-20" "4691" "-20" "c.4691-20C>T" "r.(=)" "p.(=)" "" "0000896268" "00000427" "30" "4724" "-20" "4724" "-20" "c.4724-20C>T" "r.(=)" "p.(=)" "" "0000896269" "00025624" "50" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160His)" "" "0000896269" "00000427" "50" "3512" "0" "3512" "0" "c.3512G>A" "r.(?)" "p.(Arg1171His)" "" "0000896270" "00025624" "30" "3270" "0" "3270" "0" "c.3270G>C" "r.(?)" "p.(Glu1090Asp)" "" "0000896270" "00000427" "30" "3303" "0" "3303" "0" "c.3303G>C" "r.(?)" "p.(Glu1101Asp)" "" "0000896271" "00025624" "30" "3237" "-16" "3237" "-16" "c.3237-16C>T" "r.(=)" "p.(=)" "" "0000896271" "00000427" "30" "3270" "-16" "3270" "-16" "c.3270-16C>T" "r.(=)" "p.(=)" "" "0000896272" "00025624" "70" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Gly1007Arg)" "" "0000896272" "00000427" "70" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Arg)" "" "0000896273" "00025624" "50" "2893" "0" "2893" "0" "c.2893C>A" "r.(?)" "p.(Pro965Thr)" "" "0000896273" "00000427" "50" "2926" "0" "2926" "0" "c.2926C>A" "r.(?)" "p.(Pro976Thr)" "" "0000896274" "00025624" "90" "2881" "0" "2881" "0" "c.2881C>T" "r.(?)" "p.(Arg961*)" "" "0000896274" "00000427" "90" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972*)" "" "0000896275" "00025624" "30" "2433" "0" "2441" "0" "c.2433_2441del" "r.(?)" "p.(Glu812_Glu814del)" "" "0000896275" "00000427" "30" "2466" "0" "2474" "0" "c.2466_2474del" "r.(?)" "p.(Glu823_Glu825del)" "" "0000896276" "00025624" "30" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ser660Cys)" "" "0000896276" "00000427" "30" "2012" "0" "2012" "0" "c.2012C>G" "r.(?)" "p.(Ser671Cys)" "" "0000896277" "00025624" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(Ala430=)" "" "0000896277" "00000427" "30" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Ala441=)" "" "0000896563" "00025624" "90" "3867" "0" "3868" "0" "c.3867_3868del" "r.(?)" "p.(Met1290Alafs*8)" "" "0000896563" "00000427" "90" "3901" "0" "3902" "0" "c.3901_3902del" "r.(?)" "p.(Met1301AlafsTer8)" "" "0000905901" "00025624" "50" "2599" "0" "2601" "0" "c.2599_2601delinsATCCTCAGCAGTGTGTCCCCAGCA" "r.(?)" "p.(Leu867delinsIleLeuSerSerValSerProAla)" "" "0000905901" "00000427" "50" "2632" "0" "2634" "0" "c.2632_2634delinsATCCTCAGCAGTGTGTCCCCAGCA" "r.(?)" "p.(Leu878delinsIleLeuSerSerValSerProAla)" "" "0000915731" "00025624" "30" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Asn735Thr)" "" "0000915731" "00000427" "30" "2237" "0" "2237" "0" "c.2237A>C" "r.(?)" "p.(Asn746Thr)" "" "0000927388" "00025624" "30" "4485" "18" "4485" "18" "c.4485+18C>A" "r.(=)" "p.(=)" "" "0000927388" "00000427" "30" "4518" "18" "4518" "18" "c.4518+18C>A" "r.(=)" "p.(=)" "" "0000927389" "00025624" "50" "4016" "0" "4016" "0" "c.4016G>T" "r.(?)" "p.(Gly1339Val)" "" "0000927389" "00000427" "50" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Gly1350Val)" "" "0000927390" "00025624" "50" "3773" "0" "3773" "0" "c.3773T>C" "r.(?)" "p.(Ile1258Thr)" "" "0000927390" "00000427" "50" "3806" "0" "3806" "0" "c.3806T>C" "r.(?)" "p.(Ile1269Thr)" "" "0000927391" "00025624" "50" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Val1104Met)" "" "0000927391" "00000427" "50" "3343" "0" "3343" "0" "c.3343G>A" "r.(?)" "p.(Val1115Met)" "" "0000927392" "00025624" "50" "1174" "0" "1174" "0" "c.1174C>G" "r.(?)" "p.(Arg392Gly)" "" "0000927392" "00000427" "50" "1174" "0" "1174" "0" "c.1174C>G" "r.(?)" "p.(Arg392Gly)" "" "0000927393" "00025624" "90" "587" "0" "587" "0" "c.587del" "r.(?)" "p.(Lys196Serfs*7)" "" "0000927393" "00000427" "90" "587" "0" "587" "0" "c.587del" "r.(?)" "p.(Lys196Serfs*7)" "" "0000931429" "00025624" "30" "3651" "0" "3651" "0" "c.3651C>T" "r.(?)" "p.(=)" "" "0000931429" "00000427" "30" "3684" "0" "3684" "0" "c.3684C>T" "r.(?)" "p.(=)" "" "0000931430" "00025624" "70" "2734" "-1" "2734" "-1" "c.2734-1G>C" "r.spl?" "p.?" "" "0000931430" "00000427" "70" "2767" "-1" "2767" "-1" "c.2767-1G>C" "r.spl?" "p.?" "" "0000931431" "00025624" "90" "413" "0" "413" "0" "c.413del" "r.(?)" "p.(Phe138Serfs*65)" "" "0000931431" "00000427" "90" "413" "0" "413" "0" "c.413del" "r.(?)" "p.(Phe138Serfs*65)" "" "0000951767" "00025624" "50" "5633" "0" "5633" "0" "c.5633A>G" "r.(?)" "p.(His1878Arg)" "" "0000951767" "00000427" "50" "5666" "0" "5666" "0" "c.5666A>G" "r.(?)" "p.(His1889Arg)" "" "0000951768" "00025624" "50" "2474" "0" "2474" "0" "c.2474T>A" "r.(?)" "p.(Val825Asp)" "" "0000951768" "00000427" "50" "2507" "0" "2507" "0" "c.2507T>A" "r.(?)" "p.(Val836Asp)" "" "0000951769" "00025624" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Lys)" "" "0000951769" "00000427" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Lys)" "" "0000951770" "00025624" "30" "585" "0" "585" "0" "c.585A>G" "r.(?)" "p.(Gly195=)" "" "0000951770" "00000427" "30" "585" "0" "585" "0" "c.585A>G" "r.(?)" "p.(Gly195=)" "" "0000953887" "00000427" "90" "1524" "-1" "2873" "1" "c.(1523+1_1524-1)_(2873+1_2874-1)del" "r.?" "p.?" "12i_23i" "0000953888" "00000427" "90" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ala434Val)" "" "0000953889" "00000427" "90" "2175" "0" "2179" "0" "c.2175_2179delinsCATCATGTATGATGGTATCATGGCATT" "r.(?)" "p.(Gly726IlefsTer61)" "" "0000953890" "00000427" "90" "1910" "1" "1910" "1" "c.1910+1G>A" "r.spl" "p.?" "" "0000953891" "00000427" "90" "4049" "0" "4049" "0" "c.4049G>A" "r.(?)" "p.(Gly1350Asp)" "" "0000953892" "00000427" "90" "342" "0" "342" "0" "c.342del" "r.(?)" "p.(Phe115SerfsTer22)" "" "0000953893" "00000427" "90" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972Ter)" "" "0000953894" "00000427" "90" "4042" "-1" "4042" "-1" "c.4042-1G>T" "r.spl" "p.?" "" "0000953895" "00000427" "90" "1910" "1" "1910" "1" "c.1910+1G>A" "r.spl" "p.?" "" "0000953896" "00000427" "90" "2576" "1" "2576" "1" "c.2576+1G>A" "r.spl" "p.?" "" "0000953897" "00000427" "90" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Gly309Asp)" "" "0000953898" "00000427" "90" "2761" "0" "2761" "0" "c.2761C>A" "r.(?)" "p.(Leu921Ile)" "" "0000953899" "00000427" "90" "2767" "-1" "2767" "-1" "c.2767-1G>C" "r.spl" "p.?" "" "0000954011" "00000427" "70" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ala434Val)" "" "0000954012" "00000427" "90" "1910" "1" "1910" "1" "c.1910+1G>A" "r.spl" "p.?" "" "0000958028" "00000427" "70" "26" "-2" "26" "-2" "c.26-2A>G" "r.spl" "p.?" "" "0000958190" "00000427" "90" "1910" "2" "1910" "2" "c.1910+2T>G" "r.spl" "p.?" "" "0000958191" "00000427" "90" "4422" "-2" "4422" "-2" "c.4422-2A>G" "r.spl" "p.?" "" "0000958196" "00000427" "70" "3167" "0" "3167" "0" "c.3167dup" "r.(?)" "p.(Val1057GlyfsTer10)" "" "0000958197" "00000427" "70" "4495" "0" "4495" "0" "c.4495T>C" "r.(?)" "p.(Cys1499Arg)" "" "0000958869" "00000427" "50" "3928" "0" "3928" "0" "c.3928G>A" "r.(?)" "p.(Gly1310Ser)" "" "0000958886" "00000427" "50" "5519" "0" "5519" "0" "c.5519C>T" "r.(?)" "p.(Thr1840Ile)" "" "0000958892" "00000427" "50" "799" "0" "799" "0" "c.799T>C" "r.(?)" "p.(Cys267Arg)" "" "0000958895" "00000427" "50" "4034" "0" "4034" "0" "c.4034G>T" "r.(?)" "p.(Gly1345Val)" "" "0000958896" "00000427" "50" "4594" "0" "4594" "0" "c.4594C>T" "r.(?)" "p.(Arg1532Trp)" "" "0000959071" "00000427" "50" "3846" "0" "3846" "0" "c.3846G>A" "r.(?)" "p.(Glu1282=)" "" "0000959195" "00000427" "70" "3167" "0" "3167" "0" "c.3167dup" "r.(?)" "p.(Val1057GlyfsTer10)" "" "0000959406" "00000427" "50" "5263" "0" "5263" "0" "c.5263C>G" "r.(?)" "p.(Arg1755Gly)" "" "0000971141" "00025624" "10" "5829" "0" "5829" "0" "c.5829C>T" "r.(?)" "p.(=)" "" "0000971141" "00000427" "10" "5862" "0" "5862" "0" "c.5862C>T" "r.(?)" "p.(=)" "" "0000971143" "00025624" "30" "5017" "0" "5017" "0" "c.5017G>T" "r.(?)" "p.(Gly1673Trp)" "" "0000971143" "00000427" "30" "5050" "0" "5050" "0" "c.5050G>T" "r.(?)" "p.(Gly1684Trp)" "" "0000971144" "00025624" "90" "3862" "0" "3862" "0" "c.3862C>T" "r.(?)" "p.(Arg1288Ter)" "" "0000971144" "00000427" "90" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299Ter)" "" "0000971145" "00025624" "50" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Ala950Thr)" "" "0000971145" "00000427" "50" "2881" "0" "2881" "0" "c.2881G>A" "r.(?)" "p.(Ala961Thr)" "" "0000971147" "00025624" "30" "1535" "0" "1535" "0" "c.1535G>A" "r.(?)" "p.(Arg512His)" "" "0000971147" "00000427" "30" "1568" "0" "1568" "0" "c.1568G>A" "r.(?)" "p.(Arg523His)" "" "0000971148" "00025624" "50" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Ala284Val)" "" "0000971148" "00000427" "50" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Ala284Val)" "" "0000971149" "00025624" "50" "508" "0" "508" "0" "c.508A>T" "r.(?)" "p.(Ile170Phe)" "" "0000971149" "00000427" "50" "508" "0" "508" "0" "c.508A>T" "r.(?)" "p.(Ile170Phe)" "" "0000971150" "00025624" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Gly150Glu)" "" "0000971150" "00000427" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Gly150Glu)" "" "0000971151" "00025624" "70" "-3959" "0" "-3959" "0" "c.-3959C>T" "r.(?)" "p.(=)" "" "0000971151" "00000427" "70" "-3959" "0" "-3959" "0" "c.-3959C>T" "r.(?)" "p.(=)" "" "0000984727" "00025624" "30" "2674" "-7" "2674" "-7" "c.2674-7A>G" "r.(=)" "p.(=)" "" "0000984727" "00000427" "30" "2707" "-7" "2707" "-7" "c.2707-7A>G" "r.(=)" "p.(=)" "" "0000984728" "00025624" "30" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Gly41=)" "" "0000984728" "00000427" "30" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Gly41=)" "" "0000986305" "00000427" "50" "4060" "0" "4060" "0" "c.4060C>T" "r.(?)" "p.(Leu1354Phe)" "35" "0000986306" "00000427" "70" "2766" "1" "2766" "1" "c.2766+1G>A" "r.(?)" "p.?" "22i" "0000986307" "00000427" "50" "630" "0" "630" "0" "c.630G>A" "r.spl?" "p.(?)" "5" "0000986308" "00000427" "50" "4118" "0" "4118" "0" "c.4118T>C" "r.(?)" "p.(Val1373Ala)" "35" "0000986309" "00000427" "50" "1014" "3" "1014" "3" "c.1014+3G>A" "r.spl?" "p.?" "7i" "0000986310" "00000427" "70" "1566" "0" "1575" "0" "c.1566_1575del" "r.(?)" "p.(Trp533CysfsTer9)" "13" "0000986927" "00000427" "70" "1079" "0" "1079" "0" "c.1079C>A" "r.(?)" "p.(Ser360Tyr)" "8" "0001006811" "00025624" "50" "5330" "0" "5330" "0" "c.5330G>A" "r.(?)" "p.(Arg1777His)" "" "0001006811" "00000427" "50" "5363" "0" "5363" "0" "c.5363G>A" "r.(?)" "p.(Arg1788His)" "" "0001006812" "00025624" "50" "3392" "0" "3392" "0" "c.3392C>T" "r.(?)" "p.(Ala1131Val)" "" "0001006812" "00000427" "50" "3425" "0" "3425" "0" "c.3425C>T" "r.(?)" "p.(Ala1142Val)" "" "0001006813" "00025624" "50" "3260" "0" "3260" "0" "c.3260C>T" "r.(?)" "p.(Ala1087Val)" "" "0001006813" "00000427" "50" "3293" "0" "3293" "0" "c.3293C>T" "r.(?)" "p.(Ala1098Val)" "" "0001006814" "00025624" "30" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Gly763Arg)" "" "0001006814" "00000427" "30" "2320" "0" "2320" "0" "c.2320G>A" "r.(?)" "p.(Gly774Arg)" "" "0001006815" "00025624" "30" "1586" "0" "1586" "0" "c.1586T>A" "r.(?)" "p.(Phe529Tyr)" "" "0001006815" "00000427" "30" "1619" "0" "1619" "0" "c.1619T>A" "r.(?)" "p.(Phe540Tyr)" "" "0001006816" "00025624" "70" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195GlufsTer8)" "" "0001006816" "00000427" "70" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Gly195GlufsTer8)" "" "0001006817" "00025624" "50" "419" "0" "419" "0" "c.419T>G" "r.(?)" "p.(Val140Gly)" "" "0001006817" "00000427" "50" "419" "0" "419" "0" "c.419T>G" "r.(?)" "p.(Val140Gly)" "" "0001006818" "00025624" "30" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Pro14Ser)" "" "0001006818" "00000427" "30" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Pro14Ser)" "" "0001006819" "00025624" "50" "26" "-3" "26" "-3" "c.26-3T>C" "r.spl?" "p.?" "" "0001006819" "00000427" "50" "26" "-3" "26" "-3" "c.26-3T>C" "r.spl?" "p.?" "" "0001044378" "00025624" "30" "3993" "0" "3993" "0" "c.3993C>T" "r.(?)" "p.(Ala1331=)" "" "0001044378" "00000427" "30" "4026" "0" "4026" "0" "c.4026C>T" "r.(?)" "p.(Ala1342=)" "" "0001044379" "00025624" "50" "3159" "0" "3159" "0" "c.3159C>A" "r.(?)" "p.(Asn1053Lys)" "" "0001044379" "00000427" "50" "3192" "0" "3192" "0" "c.3192C>A" "r.(?)" "p.(Asn1064Lys)" "" "0001044380" "00025624" "30" "3140" "0" "3140" "0" "c.3140G>A" "r.(?)" "p.(Arg1047Gln)" "" "0001044380" "00000427" "30" "3173" "0" "3173" "0" "c.3173G>A" "r.(?)" "p.(Arg1058Gln)" "" "0001044381" "00025624" "30" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0001044381" "00000427" "30" "1319" "0" "1319" "0" "c.1319T>C" "r.(?)" "p.(Leu440Pro)" "" "0001057330" "00025624" "50" "5887" "0" "5887" "0" "c.5887G>A" "r.(?)" "p.(Val1963Ile)" "" "0001057330" "00000427" "50" "5920" "0" "5920" "0" "c.5920G>A" "r.(?)" "p.(Val1974Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 672 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001930" "0000000209" "0000006851" "0000000209" "0000006852" "0000000209" "0000006853" "0000000209" "0000006854" "0000000209" "0000006855" "0000000209" "0000006856" "0000000209" "0000006857" "0000000209" "0000006858" "0000000209" "0000006859" "0000000209" "0000006860" "0000000210" "0000008921" "0000000210" "0000008922" "0000000210" "0000008923" "0000000210" "0000008924" "0000000210" "0000008925" "0000000210" "0000008926" "0000000210" "0000008927" "0000000210" "0000008928" "0000000210" "0000008929" "0000000210" "0000008930" "0000000210" "0000010961" "0000032922" "0000059594" "0000032923" "0000059600" "0000032924" "0000059601" "0000032925" "0000059603" "0000032926" "0000059604" "0000032927" "0000059605" "0000032928" "0000059606" "0000032929" "0000059607" "0000033173" "0000059595" "0000033175" "0000059596" "0000033175" "0000059597" 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