### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CNGA3)
# 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}}"
"CNGA3" "cyclic nucleotide gated channel alpha 3" "2" "q11.2" "unknown" "NG_009097.1" "UD_132084459416" "" "https://www.LOVD.nl/CNGA3" "" "1" "2150" "1261" "600053" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CNGA3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-06 00:00:00" "00006" "2024-03-13 09:47:43" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00005380" "CNGA3" "transcript variant 1" "001" "NM_001298.2" "" "NP_001289.1" "" "" "" "-417" "3431" "2085" "98962618" "99015064" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 14
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59"
"00115" "CRMCC" "microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)" "AR" "612199" "" "" "" "00001" "2013-03-08 10:55:44" "00006" "2021-12-10 21:51:32"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25"
"01715" "ACHM2" "achromatopsia, type 2 (ACHM-2)" "AR" "216900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01721" "CHED" "dystrophy, corneal, endothelial" "AR" "217700" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2023-03-22 16:48:05"
"02016" "ACHM3" "achromatopsia, type 3" "AR" "262300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-30 14:18:16"
"02156" "-" "retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness" "" "300455" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" ""
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04230" "ACHM" "achromatopsia (ACHM)" "" "" "" "" "" "00006" "2015-03-22 20:43:12" "" ""
"04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39"
"05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"CNGA3" "01715"
"CNGA3" "04230"
## Individuals ## Do not remove or alter this header ##
## Count = 965
"{{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}}"
"00000390" "" "" "" "1" "" "00015" "{PMID:Linnankivi 2006:16943371}, {PMID:Polvi 2012:22387016}" "F8:II-1, patient 12 in Linnankivi et al. 2006" "M" "no" "Finland" ">22y" "" "" "" "Finnish" ""
"00019837" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" ""
"00034517" "" "" "" "1" "" "00006" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "F" "yes" "Saudi Arabia" "" "0" "" "" "" ""
"00034520" "" "" "" "1" "" "01264" "" "" "" "yes" "Pakistan" "" "0" "" "" "Multan" ""
"00100072" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61086"
"00104998" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "75ORG1"
"00144158" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "M" "no" "Japan" "" "0" "" "" "Japanese" ""
"00155420" "" "" "" "5" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Druze" ""
"00155421" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155422" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00155423" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish" ""
"00155424" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155425" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155426" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Yemenite;Jewish" ""
"00155427" "" "" "" "3" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish" ""
"00155428" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155429" "" "" "" "4" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155430" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155431" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155432" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155433" "" "" "" "3" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155434" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Beduin" ""
"00155435" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Jewish-Oriental" ""
"00155436" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Jewish-Oriental" ""
"00155437" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish-Oriental" ""
"00155438" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00234409" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00260781" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00292856" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292857" "" "" "" "64" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292858" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292859" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292860" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292861" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295398" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304840" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00306770" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00308495" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308496" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308497" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308498" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308607" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" ""
"00308608" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" ""
"00308664" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00309064" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309065" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309066" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309067" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309068" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309069" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309070" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309071" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309072" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309073" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309074" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309075" "" "" "" "10" "" "00004" "{PMID:Sharon 2019:31456290}" "10 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309076" "" "" "" "4" "" "00004" "{PMID:Sharon 2019:31456290}" "4 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309077" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309078" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309079" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309080" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309081" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309082" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309083" "" "" "" "17" "" "00004" "{PMID:Sharon 2019:31456290}" "17 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309084" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309085" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309086" "" "" "" "6" "" "00004" "{PMID:Sharon 2019:31456290}" "6 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309087" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309088" "" "" "" "13" "" "00004" "{PMID:Sharon 2019:31456290}" "13 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00319825" "" "" "" "1" "" "00008" "{PMID:Eksandh 2002:12187429}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Sweden" "" "0" "" "" "" "FamAPatII1"
"00319826" "" "" "" "1" "" "00008" "{PMID:Eksandh 2002:12187429}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Sweden" "" "0" "" "" "" "FamCPatII1"
"00319827" "" "" "" "1" "" "00008" "{PMID:Eksandh 2002:12187429}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Sweden" "" "0" "" "" "" "FamBPatII1"
"00319828" "" "" "" "1" "" "00008" "{PMID:Eksandh 2002:12187429}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Sweden" "" "0" "" "" "" "FamDPatII1"
"00320045" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "2nd variant not found. Probably out of the screening scope." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320046" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "2nd variant not found. Probably out of the screening scope." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320047" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "2nd variant not found. Probably out of the screening scope." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320049" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320050" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320051" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320052" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320053" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320056" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "2nd variant not found. Probably out of the screening scope." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320059" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00320062" "" "" "" "1" "" "00008" "{PMID:Johnson 2004:14757870}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00324249" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324250" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324252" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324253" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324254" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324257" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324260" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324261" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324265" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324267" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324270" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00324276" "" "" "" "1" "" "00008" "{PMID:Nishiguchi 2005:15712225}" "" "" "" "" "" "0" "" "" "" ""
"00327984" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Africa" "G001017"
"00328163" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G006297"
"00328449" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14021920"
"00328450" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14003128"
"00328488" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15011865"
"00328501" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15017860"
"00331712" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "no" "" "" "0" "" "" "white" "Pat1"
"00331713" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "yes" "" "" "0" "" "" "Africa-North" "Pat2"
"00331714" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "M" "yes" "" "" "0" "" "" "Africa-North" "Pat3"
"00331715" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "M" "yes" "" "" "0" "" "" "white" "Pat4"
"00331716" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "yes" "" "" "0" "" "" "Africa-North" "Pat5"
"00331717" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "yes" "India" "" "0" "" "" "India" "Pat6"
"00331718" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "M" "no" "" "" "0" "" "" "white" "Pat7"
"00331719" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "yes" "" "" "0" "" "" "Africa-North" "Pat8"
"00332403" "" "" "" "1" "" "00000" "{PMID:Rim 2017:29145603}" "" "M" "" "Korea" "" "0" "" "" "" "Pat24"
"00332461" "" "" "" "1" "" "00000" "{PMID:Di Iorio 2017:29053603}" "" "" "" "Italy" "" "0" "" "" "" "Pat24"
"00332470" "" "" "" "1" "" "00000" "{PMID:Di Iorio 2017:29053603}" "" "" "" "Italy" "" "0" "" "" "" "Pat40"
"00333355" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat15"
"00333362" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat2"
"00333386" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD11–03"
"00333982" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "454"
"00333983" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "455"
"00333984" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "456"
"00335102" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "8758"
"00335103" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "264"
"00335104" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "8188"
"00335224" "" "" "" "1" "" "00000" "{PMID:Riera 2017:28181551}" "patient" "" "" "Spain" "" "0" "" "" "" "Fi15/07"
"00358726" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" ""
"00358727" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" ""
"00358951" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71927"
"00358964" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case72007"
"00359007" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13003908"
"00359012" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13009042"
"00359013" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13012218"
"00359021" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13001685"
"00359041" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "11011667"
"00359179" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13015421"
"00362088" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "LH19"
"00362089" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "LH20"
"00362090" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "MD13"
"00362091" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "MD16"
"00362092" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT7"
"00362093" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT65"
"00362094" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT82"
"00362095" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT127"
"00362096" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT128"
"00362097" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT134"
"00362098" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT144"
"00362099" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT172"
"00362100" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT189"
"00362101" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT197"
"00362102" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT199"
"00362103" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT352"
"00362104" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT353"
"00362105" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT382"
"00362106" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT389"
"00362107" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT412"
"00362108" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT414"
"00362109" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT415"
"00362110" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT425"
"00362111" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT435"
"00362112" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT494"
"00362113" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT549"
"00362114" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT570"
"00362115" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT583"
"00362116" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT612"
"00362117" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT625"
"00362118" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT643"
"00362119" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT656"
"00362120" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT660"
"00362121" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT694"
"00362122" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT840"
"00362123" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT858"
"00362124" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT875"
"00362125" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT876"
"00362126" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT885"
"00362127" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT942"
"00362128" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT978"
"00362129" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT1057"
"00362130" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT1062"
"00362131" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT1067"
"00362132" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT1071"
"00362133" "" "" "" "1" "" "00006" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "see paper ..." "" "" "China" "" "0" "" "" "" "QT1099"
"00362134" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1193"
"00362135" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1256"
"00362136" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1270"
"00362137" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1285"
"00362138" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1294"
"00362139" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1305"
"00362140" "" "" "" "1" "" "00006" "{PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1310"
"00362215" "" "" "" "1" "" "04043" "Fadaie 2021, submitted" "" "F" "" "Israel" "" "0" "" "" "" "?"
"00363672" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2411"
"00363688" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0442"
"00363700" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG1185"
"00363723" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG2586"
"00363732" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG0540"
"00373340" "" "" "" "4" "" "00006" "{PMID:Saqib 2015:25943428}, {DOI:Saqib 2015:10.1038/srep09965}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamMA25"
"00373341" "" "" "" "4" "" "00006" "{PMID:Saqib 2015:25943428}, {DOI:Saqib 2015:10.1038/srep09965}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamMA69"
"00374983" "" "" "" "1" "" "00006" "{PMID:Duncker 2015:25283059}" "" "M" "" "United States" "" "0" "" "" "black" "Pat24"
"00374990" "" "" "" "1" "" "00000" "{PMID:Dubis 2015:25277229}" "" "F" "" "" "" "0" "" "" "" "JC_1240"
"00374991" "" "" "" "1" "" "00000" "{PMID:Dubis 2015:25277229}" "" "F" "" "" "" "0" "" "" "" "MM_0002"
"00374992" "" "" "" "1" "" "00000" "{PMID:Dubis 2015:25277229}" "" "F" "" "" "" "0" "" "" "" "MM_0009"
"00374993" "" "" "" "1" "" "00000" "{PMID:Dubis 2015:25277229}" "" "F" "" "" "" "0" "" "" "" "MM_0015"
"00375357" "" "" "" "1" "" "00000" "{PMID:Greenberg 2014:24504161}" "patient" "" "" "United States" "" "0" "" "" "" "Pat2"
"00375360" "" "" "" "1" "" "00000" "{PMID:Greenberg 2014:24504161}" "patient" "" "" "United States" "" "0" "" "" "" "Pat6"
"00375361" "" "" "" "1" "" "00000" "{PMID:Greenberg 2014:24504161}" "patient" "" "" "United States" "" "0" "" "" "" "Pat7"
"00375362" "" "" "" "1" "" "00000" "{PMID:Greenberg 2014:24504161}" "patient" "" "" "United States" "" "0" "" "" "" "Pat8"
"00375363" "" "" "" "1" "" "00000" "{PMID:Greenberg 2014:24504161}" "patient" "" "" "United States" "" "0" "" "" "" "Pat9"
"00375366" "" "" "" "2" "" "00000" "{PMID:Greenberg 2014:24504161}" "family, 2 affected" "" "" "United States" "" "0" "" "" "" "Fam4Pat16"
"00375367" "" "" "00375366" "1" "" "00000" "{PMID:Greenberg 2014:24504161}" "sib" "" "" "United States" "" "0" "" "" "" "Fam4Pat17"
"00377009" "" "" "" "1" "" "00000" "{PMID:Thiadens_2010:20079539}" "" "M" "" "Netherlands" "" "0" "" "" "" ""
"00377012" "" "" "" "1" "" "00000" "{PMID:Thiadens_2010:20079539}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00377013" "" "" "" "1" "" "00000" "{PMID:Thiadens_2010:20079539}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00377014" "" "" "" "1" "" "00000" "{PMID:Thiadens_2010:20079539}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00377015" "" "" "" "1" "" "00000" "{PMID:Thiadens_2010:20079539}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00377024" "" "" "" "1" "" "00000" "{PMID:Thiadens_2009:19592100}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00377025" "" "" "" "1" "" "00000" "{PMID:Thiadens_2009:19592100}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00377026" "" "" "" "1" "" "00000" "{PMID:Thiadens_2009:19592100}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00377027" "" "" "" "1" "" "00000" "{PMID:Thiadens_2009:19592100}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00377028" "" "" "" "1" "" "00000" "{PMID:Thiadens_2009:19592100}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00377181" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "254"
"00377197" "" "" "" "2" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "274"
"00377198" "" "" "00377197" "1" "" "00000" "Tracewska 2021, MolVis in press" "brother" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "275"
"00377216" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "313"
"00377224" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "328"
"00377245" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "358"
"00377275" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "487"
"00377708" "" "" "" "1" "" "00000" "{PMID:Azam 2010:20454696}" "" "M" "no" "Pakistan" "" "0" "" "" "Pakistani" ""
"00377709" "" "" "" "1" "" "00000" "{PMID:Azam 2010:20454696}" "" "F" "no" "Pakistan" "" "0" "" "" "Pakistani" ""
"00377710" "" "" "" "1" "" "00000" "{PMID:Azam 2010:20454696}" "" "M" "no" "Pakistan" "" "0" "" "" "Pakistani" ""
"00377711" "" "" "" "1" "" "00000" "{PMID:Azam 2010:20454696}" "" "M" "no" "Pakistan" "" "0" "" "" "Pakistani" ""
"00378012" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0003"
"00379686" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0080"
"00379768" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0120"
"00380131" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "likely" "Saudi Arabia" "" "0" "" "" "" "11DG0997"
"00380178" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP154, II:1" "?" "no" "Spain" "" "0" "" "" "" "II:1"
"00380179" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP154, II:3" "?" "no" "Spain" "" "0" "" "" "" "II:3"
"00380192" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP185, II:1" "?" "no" "Spain" "" "0" "" "" "" "II:1"
"00380193" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP188" "?" "?" "Spain" "" "0" "" "" "" "?"
"00380286" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" ""
"00380287" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" ""
"00380855" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2018:30289319}" "" "M" "yes" "" "" "0" "" "" "" "2"
"00380856" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2018:30289319}" "" "M" "yes" "" "" "0" "" "" "" "3"
"00380857" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2018:30289319}" "" "M" "yes" "" "" "0" "" "" "" "4"
"00380858" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2018:30289319}" "" "M" "yes" "" "" "0" "" "" "" "5"
"00380860" "" "" "" "1" "" "00000" "{PMID:Abdelkader 2018:30289319}" "" "F" "yes" "" "" "0" "" "" "" "7"
"00381105" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "M" "" "" "" "0" "" "" "" ""
"00381106" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "M" "" "" "" "0" "" "" "" ""
"00381107" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "M" "" "" "" "0" "" "" "" ""
"00381108" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381109" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "M" "" "" "" "0" "" "" "" ""
"00381110" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381111" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381112" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381113" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "M" "" "" "" "0" "" "" "" ""
"00381114" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381115" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381116" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381117" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381118" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "M" "" "" "" "0" "" "" "" ""
"00381119" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381120" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381121" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "M" "" "" "" "0" "" "" "" ""
"00381122" "" "" "" "1" "" "00008" "{PMID:Sundaram_2014:24148654}" "" "F" "" "" "" "0" "" "" "" ""
"00381967" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "F" "no" "" "" "0" "" "" "" "7"
"00381968" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "F" "no" "" "" "0" "" "" "" "8"
"00381969" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "F" "no" "" "" "0" "" "" "" "9"
"00381970" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "F" "no" "" "" "0" "" "" "" "10"
"00381971" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "F" "no" "" "" "0" "" "" "" "12"
"00381972" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "M" "no" "" "" "0" "" "" "" "13"
"00381973" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "F" "no" "" "" "0" "" "" "" "14"
"00381974" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "M" "no" "" "" "0" "" "" "" "15"
"00381975" "" "" "" "1" "" "00000" "{PMID:Burkhard 2018:30418171}" "" "M" "no" "" "" "0" "" "" "" "16"
"00382123" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "89"
"00382124" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "268"
"00382125" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "272"
"00382126" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "278"
"00382127" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "285"
"00382791" "" "" "" "1" "" "00000" "{PMID:Azam-2011:21987686}" "" "" "yes" "Pakistan" "" "0" "" "" "pakistani" ""
"00383413" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383414" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383415" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383416" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383417" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" ""
"00383510" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00384231" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "10906"
"00384232" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "11069"
"00384248" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13150"
"00384304" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13556"
"00384323" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13681"
"00384363" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13984"
"00384417" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14401"
"00384421" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14415"
"00384429" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14476"
"00384451" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14631"
"00384455" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14652"
"00384505" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "16211"
"00384509" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "6683"
"00385172" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "65"
"00386254" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-224, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-525"
"00386269" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-50, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-125"
"00386284" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-97, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-230"
"00386774" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2924_004509"
"00387636" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "24"
"00387637" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "25"
"00388735" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 11, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "19"
"00388736" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 11, achromatopsia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "20"
"00389246" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 180, achromatopsia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "530"
"00389719" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 468, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1003"
"00389727" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 487, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1011"
"00389744" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 563, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1028"
"00389811" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 733, achromatopsia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1095"
"00389838" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 767, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1122"
"00389839" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 767, achromatopsia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1123"
"00389844" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 772, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1128"
"00389858" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 796, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1142"
"00389859" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 796, achromatopsia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1143"
"00389862" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 807, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1146"
"00389870" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 821, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1154"
"00389887" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 846, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1171"
"00389915" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 902, achromatopsia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1199"
"00389943" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 968, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1227"
"00389997" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1105, achromatopsia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1281"
"00390000" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1113, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1284"
"00390015" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1159, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1299"
"00390223" "" "" "" "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" "" "" "" "G001017"
"00390224" "" "" "" "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" "" "" "" "G006297"
"00390742" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F24, patient II.3" "M" "" "Tunisia" "" "0" "" "" "" "F24_II.3"
"00390999" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391388" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "56"
"00391546" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "43"
"00391574" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "Middle Eastern" "71"
"00391761" "" "" "" "1" "" "00006" "{PMID:Varsanyi 2005:16319819}" "" "F" "" "Hungary" "" "0" "" "" "" "FamBPatI1"
"00391762" "" "" "" "1" "" "00006" "{PMID:Varsanyi 2005:16319819}" "" "M" "" "Hungary" "" "0" "" "" "" "FamDPatII1"
"00391763" "" "" "" "3" "" "00006" "{PMID:Varsanyi 2005:16319819}" "3-generation family, 3 affected (2F, M), unaffected heterozygous carrier relatives" "F" "" "Hungary" "" "0" "" "" "" "FamEPatIII1"
"00391764" "" "" "00391763" "1" "" "00006" "{PMID:Varsanyi 2005:16319819}" "" "M" "" "Hungary" "" "0" "" "" "" "FamEPatIII2"
"00391765" "" "" "00391763" "1" "" "00006" "{PMID:Varsanyi 2005:16319819}" "" "F" "" "Hungary" "" "0" "" "" "" "FamEPatII2"
"00391766" "" "" "" "1" "" "00006" "{PMID:Varsanyi 2005:16319819}" "" "M" "" "Hungary" "" "0" "" "" "" "FamFPatII1"
"00391773" "" "" "" "1" "" "00006" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Poland" "" "0" "" "" "" "Pat5"
"00391774" "" "" "" "1" "" "00006" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Poland" "" "0" "" "" "" "Pat6"
"00391775" "" "" "" "1" "" "00006" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Poland" "" "0" "" "" "" "Pat7"
"00391776" "" "" "" "1" "" "00006" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Poland" "" "0" "" "" "" "Pat8"
"00391777" "" "" "" "1" "" "00006" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Poland" "" "0" "" "" "" "Pat9"
"00391778" "" "" "" "1" "" "00006" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Poland" "" "0" "" "" "" "Pat10"
"00391831" "" "" "" "1" "" "00006" "{PMID:Langlo 2014:274798146}" "" "F" "" "United States" "" "0" "" "" "" "PCI-012"
"00391833" "" "" "" "1" "" "00006" "{PMID:Langlo 2014:274798146}" "" "M" "" "United States" "" "0" "" "" "" "PCI-017"
"00391882" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "10668"
"00391883" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "F" "" "China" "" "0" "" "" "" "15732"
"00391884" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "F" "" "China" "" "0" "" "" "" "15890"
"00391885" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "15095"
"00391886" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "11787"
"00391887" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "11802"
"00391888" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "14792"
"00391889" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "11062"
"00391890" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "18739"
"00391891" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "early childhood onset defined as younger than 8y" "M" "" "China" "" "0" "" "" "" "17885"
"00391892" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "11902"
"00391893" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "5692"
"00391894" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "16657"
"00391895" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "18874"
"00391896" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "F" "" "China" "" "0" "" "" "" "13066"
"00391897" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "14481"
"00391898" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "8405"
"00391899" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "11187"
"00391900" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "8437"
"00391901" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "early childhood onset defined as younger than 8y" "F" "" "China" "" "0" "" "" "" "9020"
"00391902" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "early childhood onset defined as younger than 8y" "M" "" "China" "" "0" "" "" "" "5384"
"00391903" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "16065"
"00391904" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "early childhood onset defined as younger than 8y" "F" "" "China" "" "0" "" "" "" "16653"
"00391905" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "12291"
"00391906" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "F" "" "China" "" "0" "" "" "" "18525"
"00391907" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "19550"
"00391908" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "9106"
"00391909" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "F" "" "China" "" "0" "" "" "" "9727"
"00391910" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "5340"
"00391911" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "F" "" "China" "" "0" "" "" "" "18659"
"00391912" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "14308"
"00391913" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "early childhood onset defined as younger than 8y" "M" "" "China" "" "0" "" "" "" "10661"
"00391914" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "17281"
"00391915" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "F" "" "China" "" "0" "" "" "" "19610"
"00391916" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "M" "" "China" "" "0" "" "" "" "18349"
"00391917" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "early childhood onset defined as younger than 8y" "M" "" "China" "" "0" "" "" "" "9733"
"00391918" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "F" "" "China" "" "0" "" "" "" "16260"
"00392137" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-194, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-432"
"00392138" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-194, proband\'s sister" "F" "" "Spain" "" "0" "" "" "" "RPN-433"
"00392162" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-194, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-432"
"00392163" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-194, proband\'s sister" "F" "" "Spain" "" "0" "" "" "" "RPN-433"
"00393970" "" "" "" "1" "" "00000" "{PMID:Brunetti-Pierri_2021:33562422}" "" "" "no" "" "" "0" "" "" "Italian" ""
"00393971" "" "" "" "1" "" "00000" "{PMID:Brunetti-Pierri_2021:33562422}" "" "" "yes" "" "" "0" "" "" "Italian" ""
"00393972" "" "" "" "1" "" "00000" "{PMID:Brunetti-Pierri_2021:33562422}" "" "" "yes" "" "" "0" "" "" "Italian" ""
"00393973" "" "" "" "1" "" "00000" "{PMID:Brunetti-Pierri_2021:33562422}" "" "" "yes" "" "" "0" "" "" "Italian" ""
"00393974" "" "" "" "1" "" "00000" "{PMID:Brunetti-Pierri_2021:33562422}" "" "" "yes" "" "" "0" "" "" "Italian" ""
"00393975" "" "" "" "1" "" "00000" "{PMID:Brunetti-Pierri_2021:33562422}" "" "" "yes" "" "" "0" "" "" "Italian" ""
"00393976" "" "" "" "1" "" "00000" "{PMID:Brunetti-Pierri_2021:33562422}" "" "" "yes" "" "" "0" "" "" "Italian" ""
"00396477" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "10"
"00398242" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Netherlands" "" "0" "" "" "" "CHRO135/H"
"00398243" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO14/B"
"00398244" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO61/198"
"00398245" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO178/M"
"00398246" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Sweden" "" "0" "" "" "" "CHRO47/C"
"00398247" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO118/399"
"00398248" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO71/S"
"00398249" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO32/M"
"00398250" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Netherlands" "" "0" "" "" "" "CHRO159/T"
"00398251" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Turkey" "" "0" "" "" "" "CHRO104/22"
"00398252" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Turkey" "" "0" "" "" "" "CHRO104/24"
"00398253" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Norway" "" "0" "" "" "" "CHRO18/G"
"00398254" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Norway" "" "0" "" "" "" "CHRO18/B"
"00398255" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Norway" "" "0" "" "" "" "CHRO18/K"
"00398256" "" "" "" "2" "" "00000" "{PMID:Wissinger 2001:11536077},{PMID:Andersen 2023:36980963}" "family, 2 affected" "F" "" "Denmark" "" "0" "" "" "" "CHRO127/L;Fam214Pat41"
"00398257" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO124/C"
"00398258" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO124/T"
"00398259" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Sweden" "" "0" "" "" "" "CHRO48/EL"
"00398260" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Italy" "" "0" "" "" "" "CHRO66/G"
"00398261" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Haiti" "" "0" "" "" "" "CHRO13/A"
"00398262" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Haiti" "" "0" "" "" "" "CHRO13/L"
"00398263" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO7/P"
"00398264" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO15/M"
"00398265" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO202/J"
"00398266" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Turkey" "" "0" "" "" "" "CHRO103/Km"
"00398267" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Turkey" "" "0" "" "" "" "CHRO103/Kz"
"00398268" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Turkey" "" "0" "" "" "" "CHRO103/S"
"00398269" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO248/C"
"00398270" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Italy" "" "0" "" "" "" "CHRO258/S"
"00398271" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Italy" "" "0" "" "" "" "CHRO235/1-1"
"00398272" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Turkey" "" "0" "" "" "" "CHRO105/S"
"00398273" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Pakistan" "" "0" "" "" "" "CHRO113/J"
"00398274" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO180/T"
"00398275" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO179/U"
"00398276" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Italy" "" "0" "" "" "" "CHRO241/7-1"
"00398277" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Italy" "" "0" "" "" "" "CHRO119/M"
"00398278" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO21/A"
"00398279" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO21/N"
"00398280" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO65/A"
"00398281" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "United States" "" "0" "" "" "" "CHRO254/A"
"00398282" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Italy" "" "0" "" "" "" "CHRO214/P"
"00398283" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Italy" "" "0" "" "" "" "CHRO252/C"
"00398284" "" "" "" "4" "" "00000" "{PMID:Wissinger 2001:11536077}, {PMID:Andersen 2023:36980963}" "family, 4 affected" "M" "" "Denmark" "" "0" "" "" "" "CHRO74/B;Fam203Pat46"
"00398285" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Italy" "" "0" "" "" "" "CHRO243/9-1"
"00398286" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO11/L"
"00398287" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO11/W"
"00398288" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "ZD128/M"
"00398289" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "United States" "" "0" "" "" "" "CHRO38/M"
"00398290" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO223/J"
"00398291" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO16/G"
"00398292" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Netherlands" "" "0" "" "" "" "CHRO171/M"
"00398293" "" "" "00454935" "1" "" "00000" "{PMID:Wissinger 2001:11536077}, {PMID:Andersen 2023:36980963}" "sib" "M" "" "Denmark" "" "0" "" "" "" "CHRO79/O; Fam209Pat43"
"00398294" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO208/K"
"00398295" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "ZD95/Kf"
"00398296" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Turkey" "" "0" "" "" "" "ZD82/Hg"
"00398297" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Turkey" "" "0" "" "" "" "ZD53/Ah"
"00398298" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Belgium" "" "0" "" "" "" "CHRO220/217"
"00398299" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO92/S"
"00398300" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Greece" "" "0" "" "" "" "CHRO185/M"
"00398301" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO34/831"
"00398302" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "United States" "" "0" "" "" "" "CHRO6/S"
"00398303" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Netherlands" "" "0" "" "" "" "CHRO155/M"
"00398304" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Sweden" "" "0" "" "" "" "CHRO50/A"
"00398305" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Italy" "" "0" "" "" "" "CHRO209/B"
"00398306" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "M" "" "Italy" "" "0" "" "" "" "CHRO115/H"
"00398307" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Tunisia" "" "0" "" "" "" "CHRO121/N"
"00398308" "" "" "" "1" "" "00000" "{PMID:Wissinger 2001:11536077}" "" "F" "" "Turkey" "" "0" "" "" "" "CHRO101/A"
"00398318" "" "" "" "1" "" "00000" "{PMID:Traenkner_2004:14715947}" "sibling of NH" "?" "" "Germany" "" "0" "" "" "" "AH"
"00398319" "" "" "" "1" "" "00000" "{PMID:Traenkner_2004:14715947}" "sibling of AH" "?" "" "Germany" "" "0" "" "" "" "NH"
"00398321" "" "" "" "1" "" "00000" "{PMID:Goto-Omoto 2006:16961972}" "" "F" "" "" "" "0" "" "" "" "1"
"00398323" "" "" "" "1" "" "00000" "{PMID:Koeppen 2008:18445228}" "" "M" "" "" "" "0" "" "" "" "ZD212"
"00398324" "" "" "" "1" "" "00000" "{PMID:Koeppen 2008:18445228}" "" "M" "" "" "" "0" "" "" "" "CHRO419"
"00398325" "" "" "" "1" "" "00000" "{PMID:Koeppen 2008:18445228}" "" "F" "" "" "" "0" "" "" "" "CHRO65"
"00398326" "" "" "" "1" "" "00000" "{PMID:Koeppen 2008:18445228}" "" "M" "" "" "" "0" "" "" "" "CHRO306-1"
"00398327" "" "" "" "1" "" "00000" "{PMID:Koeppen 2008:18445228}" "" "M" "" "" "" "0" "" "" "" "CHRO306-2"
"00398328" "" "" "" "1" "" "00000" "{PMID:Koeppen 2008:18445228}" "" "M" "" "" "" "0" "" "" "" "CHRO343"
"00398329" "" "" "" "1" "" "00000" "{PMID:Koeppen 2008:18445228}" "" "M" "" "" "" "0" "" "" "" "ZD128"
"00398330" "" "" "" "1" "" "00000" "{PMID:Koeppen 2008:18445228}" "" "F" "" "" "" "0" "" "" "" "CHRO38"
"00398331" "" "" "" "1" "" "00000" "{PMID:Koeppen 2008:18445228}" "" "M" "" "" "" "0" "" "" "" "CHRO463"
"00398473" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO335-1"
"00398474" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO335-2"
"00398475" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "ZD236"
"00398476" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO280"
"00398477" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO411"
"00398478" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO458"
"00398479" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO337"
"00398480" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO439"
"00398481" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO440"
"00398482" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO497"
"00398483" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO361"
"00398484" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO499"
"00398485" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO115"
"00398486" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO300"
"00398487" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO540"
"00398488" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO513"
"00398489" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO363-1"
"00398490" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO363-2"
"00398491" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO384"
"00398492" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO542"
"00398493" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO538"
"00398494" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO487"
"00398495" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "?" "" "Germany" "" "0" "" "" "" "Ar-213-03"
"00398496" "" "" "" "1" "" "00000" "{PMID:Reuter 2008:18521937}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO460"
"00398503" "" "" "" "1" "" "00000" "{PMID:Ahuja 2008:18636117}" "Family A, individual IV:1" "F" "no" "" "" "0" "" "" "" "IV:1"
"00398504" "" "" "" "1" "" "00000" "{PMID:Ahuja 2008:18636117}" "Family A, individual IV:2" "M" "no" "" "" "0" "" "" "" "IV:2"
"00398505" "" "" "" "1" "" "00000" "{PMID:Ahuja 2008:18636117}" "Family A, individual III:6" "F" "yes" "" "" "0" "" "" "" "III:6"
"00398506" "" "" "" "1" "" "00000" "{PMID:Ahuja 2008:18636117}" "Family A, individual III:7" "M" "yes" "" "" "0" "" "" "" "III:7"
"00398507" "" "" "" "1" "" "00000" "{PMID:Ahuja 2008:18636117}" "Family A, individual III:8" "F" "yes" "" "" "0" "" "" "" "III:8"
"00398508" "" "" "" "1" "" "00000" "{PMID:Ahuja 2008:18636117}" "Family B, individual III:1" "M" "no" "" "" "0" "" "" "" "III:1"
"00398509" "" "" "" "1" "" "00000" "{PMID:Ahuja 2008:18636117}" "Family B, individual III:3" "M" "no" "" "" "0" "" "" "" "III:3"
"00398512" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO367-2641"
"00398513" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO301-11168"
"00398514" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO301-11169"
"00398515" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO293-10826"
"00398516" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO293-10825"
"00398517" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO356-12170"
"00398518" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO389-13406"
"00398519" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO532-16588"
"00398520" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "F" "" "Germany" "" "0" "" "" "" "CHRO544-16904"
"00398521" "" "" "" "1" "" "00000" "{PMID:Koeppen 2010:20506298}" "" "M" "" "Germany" "" "0" "" "" "" "CHRO383-12408"
"00398540" "" "" "" "1" "" "00000" "{PMID:Vincent 2011:21268679}" "" "M" "" "Canada" "" "0" "" "" "" "1"
"00398564" "" "" "" "1" "" "00000" "{PMID:Genead 2011:21778272}" "" "M" "" "United States" "" "0" "" "" "white" "2"
"00398566" "" "" "" "1" "" "00000" "{PMID:Genead 2011:21778272}" "" "M" "" "United States" "" "0" "" "" "Lebanese" "4"
"00398568" "" "" "" "1" "" "00000" "{PMID:Genead 2011:21778272}" "" "F" "" "United States" "" "0" "" "" "Jordanian" "6"
"00398571" "" "" "" "1" "" "00000" "{PMID:Genead 2011:21778272}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "9"
"00398573" "" "" "" "1" "" "00000" "{PMID:Genead 2011:21778272}" "" "F" "" "United States" "" "0" "" "" "African American" "11"
"00398574" "" "" "" "1" "" "00000" "{PMID:Genead 2011:21778272}" "" "M" "" "United States" "" "0" "" "" "Jordanian" "12"
"00398576" "" "" "" "1" "" "00000" "{PMID:Lam 2011:21911670}" "Family ACHM-GAWa01; sister of II:2" "F" "no" "" "" "0" "" "" "" "II:1"
"00398577" "" "" "" "1" "" "00000" "{PMID:Lam 2011:21911670}" "Family ACHM-GAWa01; brother of II:1" "M" "no" "" "" "0" "" "" "" "II:2"
"00398617" "" "" "" "1" "" "00000" "{PMID:Saqib 2011:21912902}" "family 50" "M" "yes" "" "" "0" "" "" "" "IV:3"
"00398618" "" "" "" "1" "" "00000" "{PMID:Saqib 2011:21912902}" "family 50" "F" "yes" "" "" "0" "" "" "" "V:2"
"00398619" "" "" "" "1" "" "00000" "{PMID:Saqib 2011:21912902}" "family 50" "F" "yes" "" "" "0" "" "" "" "V:3"
"00398620" "" "" "" "1" "" "00000" "{PMID:Saqib 2011:21912902}" "family 50" "F" "yes" "" "" "0" "" "" "" "V:4"
"00398621" "" "" "" "1" "" "00000" "{PMID:Saqib 2011:21912902}" "family 50" "M" "yes" "" "" "0" "" "" "" "VI:1"
"00398622" "" "" "" "1" "" "00000" "{PMID:Saqib 2011:21912902}" "family 50" "F" "yes" "" "" "0" "" "" "" "VI:2"
"00398623" "" "" "" "1" "" "00000" "{PMID:Saqib 2011:21912902}" "family 50" "F" "yes" "" "" "0" "" "" "" "VI:3"
"00398626" "" "" "" "1" "" "00000" "{PMID:Thomas 2012:22790432}" "" "?" "yes" "" "" "0" "" "" "" "1"
"00398627" "" "" "" "1" "" "00000" "{PMID:Thomas 2012:22790432}" "" "?" "yes" "" "" "0" "" "" "" "2"
"00398628" "" "" "" "1" "" "00000" "{PMID:Thomas 2012:22790432}" "" "?" "yes" "" "" "0" "" "" "" "3"
"00398630" "" "" "" "1" "" "00000" "{PMID:Thomas 2012:22790432}" "" "?" "yes" "" "" "0" "" "" "" "6"
"00398631" "" "" "" "1" "" "00000" "{PMID:Thomas 2012:22790432}" "" "?" "yes" "" "" "0" "" "" "" "7"
"00398634" "" "" "" "1" "" "00000" "{PMID:Fahim 2013:23972307}" "" "?" "" "" "" "0" "" "" "" "1"
"00398635" "" "" "" "1" "" "00000" "{PMID:Fahim 2013:23972307}" "" "?" "" "" "" "0" "" "" "" "A1"
"00398636" "" "" "" "1" "" "00000" "{PMID:Fahim 2013:23972307}" "" "?" "" "" "" "0" "" "" "" "A2"
"00398637" "" "" "" "1" "" "00000" "{PMID:Fahim 2013:23972307}" "" "?" "" "" "" "0" "" "" "" "A3"
"00398638" "" "" "" "1" "" "00000" "{PMID:Fahim 2013:23972307}" "" "?" "" "" "" "0" "" "" "" "A4"
"00398649" "" "" "" "1" "" "00000" "{PMID:Burgueno-Montanes 2012:24269407}" "" "?" "" "" "" "0" "" "" "" "?"
"00398652" "" "" "" "1" "" "00000" "{PMID:Yang 2014:24676353}" "" "M" "" "" "" "0" "" "" "" "1"
"00398653" "" "" "" "1" "" "00000" "{PMID:Yang 2014:24676353}" "" "F" "" "" "" "0" "" "" "" "2"
"00398656" "" "" "" "1" "" "00000" "{PMID:Yang 2014:24676353}" "" "F" "" "" "" "0" "" "" "" "6"
"00398663" "" "" "" "1" "" "00000" "{PMID:Shaikh 2015:25052312}" "family PKAB157" "F" "" "" "" "0" "" "" "" "IV:4"
"00398664" "" "" "" "1" "" "00000" "{PMID:Shaikh 2015:25052312}" "family PKAB157" "M" "" "" "" "0" "" "" "" "IV:5"
"00398665" "" "" "" "1" "" "00000" "{PMID:Shaikh 2015:25052312}" "family PKAB157" "F" "" "" "" "0" "" "" "" "IV:6"
"00398666" "" "" "" "1" "" "00000" "{PMID:Shaikh 2015:25052312}" "family PKAB157" "M" "" "" "" "0" "" "" "" "IV:7"
"00398670" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Iranian Jewish" "MOL0010-4"
"00398671" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Ashkenazi Jewish" "MOL0012-1"
"00398672" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Iraqi Jewish" "MOL0013-2"
"00398673" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0166-1"
"00398674" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0171-1"
"00398675" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0176-1"
"00398676" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0177-3"
"00398677" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0177-4"
"00398678" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Druze" "MOL0178-4"
"00398679" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0183-4"
"00398680" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0183-5"
"00398681" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0215-1"
"00398682" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0216-1"
"00398683" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0238-2"
"00398684" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0254-1"
"00398685" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0254-3"
"00398686" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0254-5"
"00398687" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0293-1"
"00398688" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Bedouin" "MOL0294-1"
"00398689" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Bedouin" "MOL0294-4"
"00398690" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0314-1"
"00398691" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Jewish (Iraq, Kurdistan I Iran)" "MOL0328-1"
"00398692" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0332 III:3"
"00398693" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0332 II:3"
"00398694" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0332 III:1"
"00398695" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0332 III:4"
"00398696" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Jewish (Kurdistan, Iraq I Iran)" "MOL0340-1"
"00398697" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Jewish (Kurdistan, Iraq I Iran)" "MOL0340-2"
"00398698" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0385-1"
"00398699" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0385-2"
"00398700" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0438-1"
"00398701" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0476-1"
"00398702" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0476-5"
"00398703" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Jewish (Iraq I Algeria , Tunis I Algeria" "MOL0502-1"
"00398704" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Jewish (Iraq I Algeria , Tunis I Algeria)" "MOL0502-2"
"00398705" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0527-1"
"00398706" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0527-2"
"00398707" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0527-3"
"00398708" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0529-1"
"00398709" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0529-5"
"00398710" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0583-1"
"00398711" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0583-2"
"00398712" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0586-1"
"00398713" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Yemen Jewish" "MOL0603-1"
"00398714" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0646-1"
"00398715" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0685-1"
"00398716" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0738-1"
"00398717" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0761-1"
"00398718" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0834-1"
"00398719" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0891-1"
"00398720" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Druze" "MOL0909-1"
"00398721" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Mixed Jewish" "MOL0934-1"
"00398722" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0963-1"
"00398723" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Arab-Muslim" "MOL01122-1"
"00398724" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Arab-Muslim" "MOL01122-4"
"00398725" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "Israel" "" "0" "" "" "Arab-Muslim" "RD135-1"
"00398726" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "United States" "" "0" "" "" "Old Order Amish" "CHRD4196tt"
"00398727" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "United States" "" "0" "" "" "Old Order Amish" "CHRD4312tt"
"00398728" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "United States" "" "0" "" "" "Italian/British" "CHRD2090"
"00398729" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "United States" "" "0" "" "" "Haitian" "CHRD0914:j::j:"
"00398730" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "United States" "" "0" "" "" "Haitian" "CHRD0915:j::j:"
"00398731" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "yes" "United States" "" "0" "" "" "Old Order Amish" "CHRD4313tt"
"00398732" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "United States" "" "0" "" "" "Old Order Amish" "CHRD3790tt"
"00398733" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "United States" "" "0" "" "" "ltaIian/Scotch/ Eastern European" "CHRD2287"
"00398734" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "United States" "" "0" "" "" "Spanish" "CHRD2786"
"00398735" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "United States" "" "0" "" "" "Eastern European" "CHRD3206"
"00398736" "" "" "" "1" "" "00000" "{PMID:Zelinger 2015:25616768}" "" "" "no" "United States" "" "0" "" "" "Old Order Amish/British" "CHRD2724"
"00398740" "" "" "" "1" "" "00000" "{PMID:Liang 2015:25637600}" "" "F" "" "China" "" "0" "" "" "" "F1-II1"
"00398741" "" "" "" "1" "" "00000" "{PMID:Liang 2015:25637600}" "" "M" "" "China" "" "0" "" "" "" "F2-II1"
"00398742" "" "" "" "1" "" "00000" "{PMID:Liang 2015:25637600}" "" "F" "" "China" "" "0" "" "" "" "F3-II1"
"00398743" "" "" "" "1" "" "00000" "{PMID:Liang 2015:25637600}" "" "M" "" "China" "" "0" "" "" "" "F4-II1"
"00398744" "" "" "" "1" "" "00000" "{PMID:Liang 2015:25637600}" "" "M" "" "China" "" "0" "" "" "" "F5-II1"
"00398745" "" "" "" "1" "" "00000" "{PMID:Liang 2015:25637600}" "" "M" "" "China" "" "0" "" "" "" "F6-II1"
"00398746" "" "" "" "1" "" "00000" "{PMID:Liang 2015:25637600}" "" "M" "" "China" "" "0" "" "" "" "F7-II1"
"00398747" "" "" "" "1" "" "00000" "{PMID:Liang 2015:25637600}" "" "F" "" "China" "" "0" "" "" "" "F8-II1"
"00398748" "" "" "" "1" "" "00000" "{PMID:Li 2015:26493561}" "" "M" "no" "China" "" "0" "" "" "" "Family1?II:2"
"00398749" "" "" "" "1" "" "00000" "{PMID:Li 2015:26493561}" "" "M" "yes" "China" "" "0" "" "" "" "Family2?IV:1"
"00398750" "" "" "" "1" "" "00000" "{PMID:Chen 2015:26558200}" "" "M" "no" "China" "" "0" "" "" "" "Family1?II:2"
"00398751" "" "" "" "1" "" "00000" "{PMID:Kuniyoshi 2016:27040408}" "" "F" "" "Japan" "" "0" "" "" "" "?"
"00398756" "" "" "" "1" "" "00000" "{PMID:Mejecase 2019:30267408}" "" "M" "yes" "France" "" "0" "" "" "Senegalese" ""
"00398757" "" "" "" "1" "" "00000" "{PMID:Mejecase 2019:30267408}" "" "M" "yes" "France" "" "0" "" "" "Senegalese" ""
"00398758" "" "" "" "1" "" "00000" "{PMID:Mejecase 2019:30267408}" "" "M" "yes" "France" "" "0" "" "" "Senegalese" ""
"00398759" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "no" "France" "" "0" "" "" "white" "1"
"00398760" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "yes" "France" "" "0" "" "" "Northern African" "2"
"00398761" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "M" "yes" "France" "" "0" "" "" "Northern African" "3"
"00398762" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "M" "yes" "France" "" "0" "" "" "white" "4"
"00398763" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "yes" "France" "" "0" "" "" "Northern African" "5"
"00398764" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "yes" "France" "" "0" "" "" "Indian" "6"
"00398765" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "M" "no" "France" "" "0" "" "" "white" "7"
"00398766" "" "" "" "1" "" "00000" "{PMID:Matet 2018:29618791}" "" "F" "yes" "France" "" "0" "" "" "Northern African" "8"
"00398777" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JC_0578"
"00398778" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JC_0615"
"00398779" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JC_0626"
"00398780" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JC_0674"
"00398781" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JC_0698"
"00398782" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JC_10008"
"00398783" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JC_10551"
"00398784" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "KS_10337"
"00398785" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0358"
"00398786" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0385"
"00398787" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0386"
"00398788" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0387"
"00398789" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0396"
"00398790" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0397"
"00398791" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0398"
"00398792" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0412"
"00398793" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0418"
"00398794" "" "" "" "1" "" "00000" "{PMID:Georgiou 2019:30682209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0445"
"00398795" "" "" "" "1" "" "00000" "{PMID:Kohl 2021:34360608}" "" "F" "" "Germany" "" "0" "" "" "Italian" "CHRO978"
"00398796" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "" "F" "" "Germany" "" "0" "" "" "" "ACHR14_III:3"
"00398797" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "" "M" "" "Germany" "" "0" "" "" "" "ACHR14_III:4"
"00398798" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "" "M" "" "Germany" "" "0" "" "" "" "ACHR14_IV:1"
"00398799" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "" "M" "" "Germany" "" "0" "" "" "" "ACHR18_II:1"
"00398800" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "" "F" "" "Germany" "" "0" "" "" "" "ACHR18_II:2"
"00398801" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "" "M" "" "Germany" "" "0" "" "" "" "ACHR18_II:3"
"00398802" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "" "M" "" "Germany" "" "0" "" "" "" "ACHR15_II:5"
"00398803" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "" "F" "" "Germany" "" "0" "" "" "" "ACHR15_II:6"
"00398804" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "" "" "" "Germany" "" "0" "" "" "" "ACHR6"
"00398805" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "sibling of ACHR11_2" "" "" "Germany" "" "0" "" "" "" "ACHR11_1"
"00398806" "" "" "" "1" "" "00000" "{PMID:Kohl 1998:9662398}" "sibling of ACHR11_1" "" "" "Germany" "" "0" "" "" "" "ACHR11_2"
"00408390" "" "" "" "1" "" "03468" "" "" "" "" "Mexico" "" "" "" "" "m" ""
"00408391" "" "" "" "1" "" "03468" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00414779" "" "" "" "1" "" "04360" "" "" "" "" "" "" "" "" "" "" ""
"00415763" "" "" "" "1" "" "00000" "{PMID:Kellner 2004:15459792}" "" "F" "" "" "" "0" "" "" "" "F137_1025"
"00415764" "" "" "" "1" "" "00000" "{PMID:Kellner 2004:15459792}" "" "M" "" "" "" "0" "" "" "" "F137_683"
"00415765" "" "" "" "1" "" "00000" "{PMID:Kellner 2004:15459792}" "" "F" "" "" "" "0" "" "" "" "F137_682"
"00415766" "" "" "" "1" "" "00000" "{PMID:Kellner 2004:15459792}" "" "F" "" "" "" "0" "" "" "" "918"
"00419697" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070241"
"00419698" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070622"
"00419699" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070668"
"00419700" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "presumed digenic inheriance with CNGB3 variant" "M" "" "" "" "0" "" "" "" "070748"
"00419736" "" "" "" "1" "" "00000" "{PMID:Yousaf 2022:35456423}" "family PKAB149, individual III:2" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKAB149_III:2"
"00419737" "" "" "" "1" "" "00000" "{PMID:Yousaf 2022:35456423}" "family PKAB149, individual III:3" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKAB149_III:3"
"00419738" "" "" "" "1" "" "00000" "{PMID:Yousaf 2022:35456423}" "family PKED06, individual II:3" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKED06_II:3"
"00419739" "" "" "" "1" "" "00000" "{PMID:Yousaf 2022:35456423}" "family PKED06, individual III:7" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKED06_III:7"
"00419740" "" "" "" "1" "" "00000" "{PMID:Yousaf 2022:35456423}" "family PKED06, individual III:8" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKED06_III:7"
"00419741" "" "" "" "1" "" "00000" "{PMID:Yousaf 2022:35456423}" "family PKED06, individual III:9 - in table, called IV:9 in text" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKED06_III:9"
"00419742" "" "" "" "1" "" "00000" "{PMID:Yousaf 2022:35456423}" "family LUSG06, individual II:6" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "LUSG06_II:6"
"00419743" "" "" "" "1" "" "00000" "{PMID:Yousaf 2022:35456423}" "family LUSG06, individual II:8" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "LUSG06_II:8"
"00419744" "" "" "" "1" "" "00000" "{PMID:Yousaf 2022:35456423}" "family LUSG06, individual II:10" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "LUSG06_II:10"
"00420093" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420094" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420095" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420096" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420097" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420098" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420099" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420100" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420101" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420102" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 3 ; number of affected individuals: 4; segregation analysis: both parents: 3, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420103" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 7 ; number of affected individuals: 8; segregation analysis: both parents: 5, one parent or other relatives: 2; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420104" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 3 ; number of affected individuals: 4; segregation analysis: both parents: 2, one parent or other relatives: 1; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420105" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420106" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420107" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420108" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 3; segregation analysis: both parents: 2, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420109" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420110" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 3; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420111" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420112" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 2, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420113" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420114" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420115" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420116" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420117" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420118" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420119" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420120" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420121" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420122" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420123" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 7 ; number of affected individuals: 8; segregation analysis: both parents: 2, one parent or other relatives: 1; no segregation analysis possible: 5" "" "" "" "" "0" "" "" "" "?"
"00420124" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 2; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420125" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420126" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420127" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420128" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420129" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420130" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420131" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420132" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420133" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420134" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420135" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420136" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420137" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 3; segregation analysis: both parents: 3, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420138" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420139" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420140" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420141" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420142" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420143" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420144" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420145" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420146" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420147" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 5 ; number of affected individuals: 6; segregation analysis: both parents: 4, one parent or other relatives: 1; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420148" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420149" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420150" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420151" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420152" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420153" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420154" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420155" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420156" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420157" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420158" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 20 ; number of affected individuals: 23; segregation analysis: both parents: 7, one parent or other relatives: 6; no segregation analysis possible: 10" "" "" "" "" "0" "" "" "" "?"
"00420159" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 5 ; number of affected individuals: 6; segregation analysis: both parents: 4, one parent or other relatives: 0; no segregation analysis possible: 2" "" "" "" "" "0" "" "" "" "?"
"00420160" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 4 ; number of affected individuals: 4; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 3" "" "" "" "" "0" "" "" "" "?"
"00420161" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 3; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420162" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 3; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420163" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420164" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420165" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420166" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420167" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420168" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420169" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420170" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420171" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420172" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420173" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420174" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420175" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420176" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420177" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420178" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420179" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420180" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420181" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420182" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420183" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420184" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420185" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420186" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420187" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 3; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420188" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420189" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420190" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420191" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420192" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420193" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420194" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420195" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420196" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420197" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420198" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 5; segregation analysis: both parents: 3, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420199" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420200" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420201" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420202" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420203" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 3 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 2" "" "" "" "" "0" "" "" "" "?"
"00420204" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420205" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420206" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420207" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420208" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420209" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420210" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420211" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420212" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420213" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420214" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 3 ; number of affected individuals: 4; segregation analysis: both parents: 1, one parent or other relatives: 2; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420215" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420216" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420217" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420218" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420219" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420220" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420221" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420222" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420223" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420224" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420225" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420226" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420227" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420228" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420229" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420230" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420231" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420232" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420233" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420234" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420235" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420236" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420237" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420238" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420239" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420240" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 3 ; number of affected individuals: 4; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 2" "" "" "" "" "0" "" "" "" "?"
"00420241" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420242" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420243" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420244" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420245" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420246" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420247" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420248" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420249" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420250" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420251" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420252" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420253" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420254" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420255" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420256" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420257" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420258" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420259" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420260" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420261" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420262" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420263" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420264" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 3 ; number of affected individuals: 4; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 2" "" "" "" "" "0" "" "" "" "?"
"00420265" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420266" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420267" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420268" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420269" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420270" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420271" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420272" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 12 ; number of affected individuals: 22; segregation analysis: both parents: 10, one parent or other relatives: 11; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420273" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 6 ; number of affected individuals: 6; segregation analysis: both parents: 1, one parent or other relatives: 1; no segregation analysis possible: 4" "" "" "" "" "0" "" "" "" "?"
"00420274" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 3, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420275" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420276" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420277" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420278" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420279" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420280" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420281" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420282" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420283" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420284" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420285" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420286" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420287" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420288" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420289" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420290" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420291" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420292" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420293" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420294" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 3 ; number of affected individuals: 5; segregation analysis: both parents: 3, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420295" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420296" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420297" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420298" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420299" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420300" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420301" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420302" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420303" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420304" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 1, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420305" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420306" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 3 ; number of affected individuals: 5; segregation analysis: both parents: 2, one parent or other relatives: 2; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420307" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420308" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420309" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420310" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420311" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 6; segregation analysis: both parents: 6, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00420312" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1" "" "" "" "" "0" "" "" "" "?"
"00420313" "" "" "" "1" "" "00000" "{PMID:Solaki 2022:35332618}" "number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0" "" "" "" "" "0" "" "" "" "?"
"00426902" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 4, individual 5" "M" "" "" "" "0" "" "" "" "4_5"
"00426907" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 10, individual 11" "F" "" "" "" "0" "" "" "" "10_11"
"00426908" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 10, individual 12" "M" "" "" "" "0" "" "" "" "10_12"
"00436592" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "" "Hispanic" "3312285"
"00444254" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat10"
"00446908" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "ACHM-1213"
"00446912" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ACHM-1271"
"00446913" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ACHM-1272"
"00446915" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ACHM-1281"
"00446919" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ACHM-1291"
"00446920" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ACHM-1297"
"00446921" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ACHM-1298"
"00446922" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ACHM-1300"
"00446923" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ACHM-1301"
"00447050" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CD-391"
"00447482" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ACHM-497"
"00447527" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CD-631-1"
"00447693" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-288"
"00450783" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066691"
"00450784" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066749"
"00450785" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071393"
"00450786" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071819"
"00450787" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072180"
"00450788" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072215"
"00450789" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072759"
"00450790" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072869"
"00450791" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "074612"
"00451091" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067221"
"00451142" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071325"
"00451212" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072082"
"00451217" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072110"
"00451302" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074198"
"00451336" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075146"
"00451338" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075162"
"00451575" "" "" "" "4" "" "04543" "{PMID:Basharat 2024:38815792}" "5-generation family, 4 affected (3F, M)" "F" "yes" "Pakistan" "" "0" "" "" "" "FamNPatIV1"
"00451576" "" "" "00451575" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamNPatIV2"
"00451577" "" "" "00451575" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "niece" "F" "yes" "Pakistan" "" "0" "" "" "" "FamNPatV1"
"00451578" "" "" "00451575" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "niece" "F" "yes" "Pakistan" "" "0" "" "" "" "FamNPatV2"
"00451579" "" "" "" "4" "" "04543" "{PMID:Basharat 2024:38815792}" "4-generation family, 4 affected (F, 3M)" "M" "yes" "Pakistan" "" "0" "" "" "" "FamOPatIII2"
"00451580" "" "" "00451579" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamOPatIII4"
"00451581" "" "" "00451579" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamOPatIII5"
"00451582" "" "" "00451579" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "niece" "F" "yes" "Pakistan" "" "0" "" "" "" "FamOPatIV1"
"00454772" "" "" "" "1" "" "04752" "Rawnsley 2025, submitted" "" "" "" "Germany" "" "0" "" "" "" "CHRO1238"
"00454931" "" "" "" "3" "" "04752" "{PMID:Andersen 2023:36980963}" "family, 3 affected" "" "no" "Denmark" "" "0" "" "" "" "Fam219Pat7"
"00454932" "" "" "00454931" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "sib" "" "no" "Denmark" "" "0" "" "" "" "Fam219Pat40"
"00454933" "" "" "00454931" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "sib" "" "no" "Denmark" "" "0" "" "" "" "Fam219Pat64"
"00454934" "" "" "00398256" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "sib" "" "yes" "Denmark" "" "0" "" "" "" "Fam214Pat63"
"00454935" "" "" "" "3" "" "04752" "{PMID:Andersen 2023:36980963}" "family, 3 affected" "" "no" "Denmark" "" "0" "" "" "" "Fam209Pat42"
"00454936" "" "" "00454935" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "sib" "" "no" "Denmark" "" "0" "" "" "" "Fam209Pat96"
"00454937" "" "" "" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "patient" "" "yes" "Denmark" "" "0" "" "" "" "Pat44"
"00454938" "" "" "" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "patient" "" "yes" "Denmark" "" "0" "" "" "" "Pat45"
"00454939" "" "" "00398284" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "sib" "" "no" "Denmark" "" "0" "" "" "" "Fam203Pat62"
"00454940" "" "" "" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "patient" "" "no" "Denmark" "" "0" "" "" "" "Pat61"
"00454941" "" "" "" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "patient" "" "no" "Denmark" "" "0" "" "" "" "Pat76"
"00454942" "" "" "" "2" "" "04752" "{PMID:Andersen 2023:36980963}" "family, 2 affected" "" "no" "Denmark" "" "0" "" "" "" "Fam555Pat77"
"00454943" "" "" "00454942" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "sib" "" "no" "Denmark" "" "0" "" "" "" "Fam555Pat78"
"00454944" "" "" "" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "patient" "" "" "Denmark" "" "0" "" "" "" "Pat93"
"00454945" "" "" "" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "patient" "" "no" "Denmark" "" "0" "" "" "" "Pat92"
"00461131" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat66"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 964
"{{individualid}}" "{{diseaseid}}"
"00000390" "00115"
"00019837" "00139"
"00034517" "04210"
"00034520" "00058"
"00100072" "00381"
"00104998" "04230"
"00144158" "04214"
"00155420" "02016"
"00155421" "02016"
"00155422" "02016"
"00155423" "02016"
"00155424" "02016"
"00155425" "02016"
"00155426" "02016"
"00155427" "02016"
"00155428" "02016"
"00155429" "02016"
"00155430" "02016"
"00155431" "02016"
"00155432" "02016"
"00155433" "02016"
"00155434" "02016"
"00155435" "02016"
"00155436" "02016"
"00155437" "02016"
"00155438" "02016"
"00234409" "00198"
"00260781" "00198"
"00292856" "00198"
"00292857" "00198"
"00292858" "00198"
"00292859" "00198"
"00292860" "00198"
"00292861" "00198"
"00295398" "00198"
"00304840" "00198"
"00306770" "00198"
"00308495" "04214"
"00308496" "04214"
"00308497" "04214"
"00308498" "04214"
"00308607" "04214"
"00308608" "04214"
"00308664" "04214"
"00309064" "04214"
"00309065" "04214"
"00309066" "04214"
"00309067" "04214"
"00309068" "04214"
"00309069" "04214"
"00309070" "04214"
"00309071" "04214"
"00309072" "04214"
"00309073" "04214"
"00309074" "04214"
"00309075" "04214"
"00309076" "04214"
"00309077" "04214"
"00309078" "04214"
"00309079" "04214"
"00309080" "04214"
"00309081" "04214"
"00309082" "04214"
"00309083" "04214"
"00309084" "04214"
"00309085" "04214"
"00309086" "04214"
"00309087" "04214"
"00309088" "04214"
"00319825" "04214"
"00319826" "04214"
"00319827" "04214"
"00319828" "04214"
"00320045" "04214"
"00320046" "04214"
"00320047" "04214"
"00320049" "04214"
"00320050" "04214"
"00320051" "04214"
"00320052" "04214"
"00320053" "04214"
"00320056" "04214"
"00320059" "04214"
"00320062" "04214"
"00324249" "04214"
"00324250" "04214"
"00324252" "04214"
"00324253" "04214"
"00324254" "04214"
"00324257" "04214"
"00324260" "04214"
"00324261" "04214"
"00324265" "04214"
"00324267" "04214"
"00324270" "04214"
"00324276" "04214"
"00327984" "04214"
"00328163" "04214"
"00328449" "04214"
"00328450" "04214"
"00328488" "04214"
"00328501" "04214"
"00331712" "04214"
"00331713" "04214"
"00331714" "04214"
"00331715" "04214"
"00331716" "04214"
"00331717" "04214"
"00331718" "04214"
"00331719" "04214"
"00332403" "04214"
"00332461" "04214"
"00332470" "04214"
"00333355" "04214"
"00333362" "04214"
"00333386" "04214"
"00333982" "04214"
"00333983" "04214"
"00333984" "04214"
"00335102" "00198"
"00335103" "00198"
"00335104" "00198"
"00335224" "04214"
"00358726" "04214"
"00358727" "04214"
"00358951" "04214"
"00358964" "04214"
"00359007" "04214"
"00359012" "04214"
"00359013" "04214"
"00359021" "04214"
"00359041" "04214"
"00359179" "04214"
"00362088" "04214"
"00362089" "04214"
"00362090" "04214"
"00362091" "04214"
"00362092" "04214"
"00362093" "04214"
"00362094" "04214"
"00362095" "04214"
"00362096" "04214"
"00362097" "04214"
"00362098" "04214"
"00362099" "04214"
"00362100" "04214"
"00362101" "04214"
"00362102" "04214"
"00362103" "04214"
"00362104" "04214"
"00362105" "04214"
"00362106" "04214"
"00362107" "04214"
"00362108" "04214"
"00362109" "04214"
"00362110" "04214"
"00362111" "04214"
"00362112" "04214"
"00362113" "04214"
"00362114" "04214"
"00362115" "04214"
"00362116" "04214"
"00362117" "04214"
"00362118" "04214"
"00362119" "04214"
"00362120" "04214"
"00362121" "04214"
"00362122" "04214"
"00362123" "04214"
"00362124" "04214"
"00362125" "04214"
"00362126" "04214"
"00362127" "04214"
"00362128" "04214"
"00362129" "04214"
"00362130" "04214"
"00362131" "04214"
"00362132" "04214"
"00362133" "04214"
"00362134" "04214"
"00362135" "04214"
"00362136" "04214"
"00362137" "04214"
"00362138" "04214"
"00362139" "04214"
"00362140" "04214"
"00362215" "04214"
"00363672" "04214"
"00363688" "04214"
"00363700" "04214"
"00363723" "04214"
"00363732" "04214"
"00373340" "04214"
"00373341" "04214"
"00374983" "04214"
"00374990" "04214"
"00374991" "04214"
"00374992" "04214"
"00374993" "04214"
"00375357" "04214"
"00375360" "04214"
"00375361" "04214"
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"00375363" "04214"
"00375366" "04214"
"00375367" "04214"
"00377009" "04214"
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"00377014" "04214"
"00377015" "04214"
"00377024" "04214"
"00377025" "04214"
"00377026" "04214"
"00377027" "04214"
"00377028" "04214"
"00377181" "04214"
"00377197" "04214"
"00377198" "04214"
"00377216" "04214"
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"00377245" "04214"
"00377275" "04214"
"00377708" "04214"
"00377709" "04214"
"00377710" "04214"
"00377711" "04214"
"00378012" "04230"
"00379686" "04230"
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"00380131" "04214"
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"00380179" "04214"
"00380192" "04214"
"00380193" "04214"
"00380286" "04214"
"00380287" "04214"
"00380855" "04214"
"00380856" "04214"
"00380857" "04214"
"00380858" "04214"
"00380860" "04214"
"00381105" "04214"
"00381106" "04214"
"00381107" "04214"
"00381108" "04214"
"00381109" "04214"
"00381110" "04214"
"00381111" "04214"
"00381112" "04214"
"00381113" "04214"
"00381114" "04214"
"00381115" "04214"
"00381116" "04214"
"00381117" "04214"
"00381118" "04214"
"00381119" "04214"
"00381120" "04214"
"00381121" "04214"
"00381122" "04214"
"00381967" "04214"
"00381968" "04214"
"00381969" "04214"
"00381970" "04214"
"00381971" "04214"
"00381972" "04214"
"00381973" "04214"
"00381974" "04214"
"00381975" "04214"
"00382123" "01715"
"00382124" "01715"
"00382125" "01715"
"00382126" "01715"
"00382127" "01721"
"00382791" "04214"
"00383413" "04214"
"00383414" "04214"
"00383415" "04214"
"00383416" "04214"
"00383417" "04214"
"00383510" "04214"
"00384231" "04214"
"00384232" "04214"
"00384248" "04214"
"00384304" "04214"
"00384323" "04214"
"00384363" "04214"
"00384417" "04214"
"00384421" "04214"
"00384429" "04214"
"00384451" "04214"
"00384455" "04214"
"00384505" "04214"
"00384509" "04214"
"00385172" "04214"
"00386254" "04214"
"00386269" "04214"
"00386284" "04214"
"00386774" "04214"
"00387636" "04214"
"00387637" "04214"
"00388735" "04214"
"00388736" "04214"
"00389246" "04214"
"00389719" "04214"
"00389727" "04214"
"00389744" "04214"
"00389811" "04214"
"00389838" "04214"
"00389839" "04214"
"00389844" "04214"
"00389858" "04214"
"00389859" "04214"
"00389862" "04214"
"00389870" "04214"
"00389887" "04214"
"00389915" "04214"
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"00390000" "04214"
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## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00058, 00115, 00139, 00198, 00381, 01715, 01721, 02016, 02156, 04210, 04214, 04230, 04249, 05412
## Count = 947
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000000079" "00115" "00000390" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000020336" "00139" "00019837" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000027921" "04210" "00034517" "00006" "Isolated (sporadic)" "" "5m-early-onset nystagmus; sluggish pupils, no visual response; 10m-nonrecordable ERG" "" "" "" "" "" "" "" "" "" "" ""
"0000027924" "00058" "00034520" "01264" "Familial, autosomal recessive" "" "cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "" ""
"0000078313" "00381" "00100072" "01769" "Familial, autosomal recessive" "" "progressive" "" "" "" "" "" "" "" "" "" "" ""
"0000082889" "04230" "00104998" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000116936" "04214" "00144158" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000127920" "02016" "00155420" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127921" "02016" "00155421" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127922" "02016" "00155422" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127923" "02016" "00155423" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127924" "02016" "00155424" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127925" "02016" "00155425" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127926" "02016" "00155426" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127927" "02016" "00155427" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127928" "02016" "00155428" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127929" "02016" "00155429" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127930" "02016" "00155430" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127931" "02016" "00155431" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127932" "02016" "00155432" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127933" "02016" "00155433" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127934" "02016" "00155434" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127935" "02016" "00155435" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127936" "02016" "00155436" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127937" "02016" "00155437" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000127938" "02016" "00155438" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000174818" "00198" "00234409" "01807" "Unknown" "" "HP:0000548 (Cone/cone-rod dystrophy)" "" "" "" "" "" "" "" "" "" "" ""
"0000199313" "00198" "00260781" "01807" "Unknown" "" "Achromatopsia (HP:0011516); Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" ""
"0000232597" "00198" "00306770" "01164" "Unknown" "" "Achromatopsia (HP:0011516); Primary ovarian failure (HP:0001587); Abnormality of the eye (HP:0000478); Abnormality of vision (HP:0000504); Visual impairment (HP:0000505); Photophobia (HP:0000613)" "" "" "" "" "" "" "" "" "" "" ""
"0000233923" "04214" "00308495" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233924" "04214" "00308496" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233925" "04214" "00308497" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233926" "04214" "00308498" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000234035" "04214" "00308607" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000234036" "04214" "00308608" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000234092" "04214" "00308664" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000234384" "04214" "00309064" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234385" "04214" "00309065" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234386" "04214" "00309066" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234387" "04214" "00309067" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234388" "04214" "00309068" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234389" "04214" "00309069" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234390" "04214" "00309070" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234391" "04214" "00309071" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234392" "04214" "00309072" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234393" "04214" "00309073" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234394" "04214" "00309074" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234395" "04214" "00309075" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234396" "04214" "00309076" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234397" "04214" "00309077" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234398" "04214" "00309078" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234399" "04214" "00309079" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234400" "04214" "00309080" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000234401" "04214" "00309081" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234402" "04214" "00309082" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234403" "04214" "00309083" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234404" "04214" "00309084" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234405" "04214" "00309085" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234406" "04214" "00309086" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234407" "04214" "00309087" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000234408" "04214" "00309088" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000241929" "04214" "00319825" "00008" "Familial, autosomal recessive" "" "Age: 3y6m" "" "" "" "" "" "" "" "" "" "rod monochromacy (RM)" ""
"0000241930" "04214" "00319826" "00008" "Familial, autosomal recessive" "" "Age: 47y" "" "" "" "" "" "" "" "" "" "rod monochromacy (RM)" ""
"0000241931" "04214" "00319827" "00008" "Familial, autosomal recessive" "" "Age: 42y6m" "" "" "" "" "" "" "" "" "" "rod monochromacy (RM)" ""
"0000241932" "04214" "00319828" "00008" "Familial, autosomal recessive" "" "Age: 2y" "" "" "" "" "" "" "" "" "" "rod monochromacy (RM)" ""
"0000242089" "04214" "00320045" "00008" "Familial, autosomal recessive" "" "age: 39y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242090" "04214" "00320046" "00008" "Familial, autosomal recessive" "" "age: 28y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242091" "04214" "00320047" "00008" "Familial, autosomal recessive" "" "age: 16y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242093" "04214" "00320049" "00008" "Familial, autosomal recessive" "" "age: 15y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242094" "04214" "00320050" "00008" "Familial, autosomal recessive" "" "age: 9y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242095" "04214" "00320051" "00008" "Familial, autosomal recessive" "" "age: 19y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242096" "04214" "00320052" "00008" "Familial, autosomal recessive" "" "age: 26y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242097" "04214" "00320053" "00008" "Familial, autosomal recessive" "" "age: 19y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242100" "04214" "00320056" "00008" "Familial, autosomal recessive" "" "age: 12y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242103" "04214" "00320059" "00008" "Familial, autosomal recessive" "" "age: 6y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242106" "04214" "00320062" "00008" "Familial, autosomal recessive" "" "age: 5y" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000242819" "04214" "00324249" "00008" "Familial" "32y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242820" "04214" "00324250" "00008" "Familial" "15y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242822" "04214" "00324252" "00008" "Familial" "34y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242823" "04214" "00324253" "00008" "Familial" "71y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242824" "04214" "00324254" "00008" "Familial, autosomal dominant" "37y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242827" "04214" "00324257" "00008" "Familial" "10y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242830" "04214" "00324260" "00008" "Familial" "24y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242831" "04214" "00324261" "00008" "Familial" "55y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242835" "04214" "00324265" "00008" "Familial" "24y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242837" "04214" "00324267" "00008" "Familial" "41y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242840" "04214" "00324270" "00008" "Familial" "26y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000242846" "04214" "00324276" "00008" "Familial" "44y" "" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000246211" "04214" "00327984" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000246390" "04214" "00328163" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000246675" "04214" "00328449" "00000" "Familial, autosomal recessive" "10y" "cone dysfunction syndrome (HP:0030637)" "" "" "" "" "" "" "" "" "" "cone dysfunction syndrome" ""
"0000246676" "04214" "00328450" "00000" "Familial, autosomal recessive" "14y" "cone dysfunction syndrome (HP:0030637)" "" "" "" "" "" "" "" "" "" "cone dysfunction syndrome" ""
"0000246714" "04214" "00328488" "00000" "Familial, autosomal recessive" "<1y" "retinal dystrophy (HP:0000556)" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246727" "04214" "00328501" "00000" "Familial, autosomal recessive" "6y" "cone dysfunction syndrome(HP:0030637), specific learning disability (HP:0001328)" "" "" "" "" "" "" "" "" "" "cone dysfunction syndrome" ""
"0000249904" "04214" "00331712" "00000" "Familial, autosomal recessive" "39y" "see paper; ..., detailed analysis" "" "" "" "" "" "" "" "" "" "congenital achromatopsia" ""
"0000249905" "04214" "00331713" "00000" "Familial, autosomal recessive" "19y" "see paper; ..., detailed analysis" "" "" "" "" "" "" "" "" "" "congenital achromatopsia" ""
"0000249906" "04214" "00331714" "00000" "Familial, autosomal recessive" "35y" "see paper; ..., detailed analysis" "" "" "" "" "" "" "" "" "" "congenital achromatopsia" ""
"0000249907" "04214" "00331715" "00000" "Familial, autosomal recessive" "10y" "see paper; ..., detailed analysis" "" "" "" "" "" "" "" "" "" "congenital achromatopsia" ""
"0000249908" "04214" "00331716" "00000" "Familial, autosomal recessive" "33y" "see paper; ..., detailed analysis" "" "" "" "" "" "" "" "" "" "congenital achromatopsia" ""
"0000249909" "04214" "00331717" "00000" "Familial, autosomal recessive" "18y" "see paper; ..., detailed analysis" "" "" "" "" "" "" "" "" "" "congenital achromatopsia" ""
"0000249910" "04214" "00331718" "00000" "Familial, autosomal recessive" "40y" "see paper; ..., detailed analysis" "" "" "" "" "" "" "" "" "" "congenital achromatopsia" ""
"0000249911" "04214" "00331719" "00000" "Familial, autosomal recessive" "10y" "see paper; ..., detailed analysis" "" "" "" "" "" "" "" "" "" "congenital achromatopsia" ""
"0000250589" "04214" "00332403" "00000" "Familial, autosomal recessive" "3y" "rotary nystagmus; fundus grossly normal; no oculodigital sign; photopic ERG absent" "" "" "" "" "" "" "" "" "ACHM" "achromatopsia" ""
"0000250645" "04214" "00332461" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ACHM" ""
"0000250654" "04214" "00332470" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ACHM" ""
"0000251542" "04214" "00333355" "00000" "Familial, autosomal dominant" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251549" "04214" "00333362" "00000" "Unknown" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251573" "04214" "00333386" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" ""
"0000252167" "04214" "00333982" "00000" "Familial, autosomal recessive" "47y" "clinical category IA2d" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000252168" "04214" "00333983" "00000" "Familial, autosomal recessive" "47y" "clinical category IA2d" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000252169" "04214" "00333984" "00000" "Familial, autosomal recessive" "17y" "clinical category IA2d" "" "" "" "" "" "" "" "" "" "achromatopsia v Blue Cone Monochromacy" ""
"0000252817" "00198" "00335102" "00000" "Unknown" "" "3y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "macular dystrophy, nystagmus" ""
"0000252818" "00198" "00335103" "00000" "Unknown" "" "0y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000252819" "00198" "00335104" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000252939" "04214" "00335224" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000253941" "04214" "00358726" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "stationary night blindness" ""
"0000253942" "04214" "00358727" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "stationary night blindness" ""
"0000254249" "04214" "00358951" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000254262" "04214" "00358964" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254304" "04214" "00359007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000254309" "04214" "00359012" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000254310" "04214" "00359013" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000254318" "04214" "00359021" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000254338" "04214" "00359041" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254476" "04214" "00359179" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" ""
"0000257502" "04214" "00362088" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257503" "04214" "00362089" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257504" "04214" "00362090" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257505" "04214" "00362091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257506" "04214" "00362092" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257507" "04214" "00362093" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257508" "04214" "00362094" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257509" "04214" "00362095" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257510" "04214" "00362096" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257511" "04214" "00362097" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257512" "04214" "00362098" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257513" "04214" "00362099" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257514" "04214" "00362100" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257515" "04214" "00362101" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257516" "04214" "00362102" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257517" "04214" "00362103" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257518" "04214" "00362104" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257519" "04214" "00362105" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257520" "04214" "00362106" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257521" "04214" "00362107" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257522" "04214" "00362108" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257523" "04214" "00362109" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257524" "04214" "00362110" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257525" "04214" "00362111" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257526" "04214" "00362112" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257527" "04214" "00362113" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257528" "04214" "00362114" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257529" "04214" "00362115" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257530" "04214" "00362116" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257531" "04214" "00362117" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257532" "04214" "00362118" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257533" "04214" "00362119" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257534" "04214" "00362120" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257535" "04214" "00362121" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257536" "04214" "00362122" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257537" "04214" "00362123" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257538" "04214" "00362124" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257539" "04214" "00362125" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257540" "04214" "00362126" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257541" "04214" "00362127" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257542" "04214" "00362128" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257543" "04214" "00362129" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257544" "04214" "00362130" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257545" "04214" "00362131" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257546" "04214" "00362132" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257547" "04214" "00362133" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257548" "04214" "00362134" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257549" "04214" "00362135" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257550" "04214" "00362136" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257551" "04214" "00362137" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257552" "04214" "00362138" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257553" "04214" "00362139" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257554" "04214" "00362140" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257629" "04214" "00362215" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "con-rod dystrophy" ""
"0000259022" "04214" "00363672" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000259038" "04214" "00363688" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000259050" "04214" "00363700" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000259073" "04214" "00363723" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000259082" "04214" "00363732" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000268621" "04214" "00373340" "00006" "Familial, autosomal recessive" "" "see pape; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000268622" "04214" "00373341" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000270193" "04214" "00374983" "00006" "Familial, autosomal recessive" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bull’s-eye maculopathy" ""
"0000270200" "04214" "00374990" "00000" "Familial, autosomal recessive" "24y" "see paper; ..., no foveal hypoplasia" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270201" "04214" "00374991" "00000" "Familial, autosomal recessive" "34y" "see paper; ..., foveal hypoplasia" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270202" "04214" "00374992" "00000" "Familial, autosomal recessive" "9y" "see paper; ..., no foveal hypoplasia" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270203" "04214" "00374993" "00000" "Familial, autosomal recessive" "25y" "see paper; ..., foveal hypoplasia" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270571" "04214" "00375357" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270574" "04214" "00375360" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270575" "04214" "00375361" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270576" "04214" "00375362" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270577" "04214" "00375363" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270580" "04214" "00375366" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000270581" "04214" "00375367" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000272200" "04214" "00377009" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Progressive Cone Dystrophy" ""
"0000272203" "04214" "00377012" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Progressive Cone Dystrophy" ""
"0000272204" "04214" "00377013" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Progressive Cone Dystrophy" ""
"0000272205" "04214" "00377014" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Progressive Cone Dystrophy" ""
"0000272206" "04214" "00377015" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Progressive Cone Dystrophy" ""
"0000272215" "04214" "00377024" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000272216" "04214" "00377025" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000272217" "04214" "00377026" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000272218" "04214" "00377027" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000272219" "04214" "00377028" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000272339" "04214" "00377181" "00000" "Familial, autosomal recessive" "11y" "see paper" "3m" "6y" "" "" "" "" "" "" "achromatopsia, type 2 (ACHM-2)" "retinal disease" ""
"0000272355" "04214" "00377197" "00000" "Familial, autosomal recessive" "9y" "see paper" "4y" "4y6m" "" "" "" "" "" "" "achromatopsia, type 2 (ACHM-2)" "retinal disease" ""
"0000272356" "04214" "00377198" "00000" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "achromatopsia, type 2 (ACHM-2)" "retinal disease" ""
"0000272374" "04214" "00377216" "00000" "Familial, autosomal recessive" "9y" "see paper" "6m" "2y" "" "" "" "" "" "" "achromatopsia, type 2 (ACHM-2)" "retinal disease" ""
"0000272382" "04214" "00377224" "00000" "Familial, autosomal recessive" "16y" "see paper" "3m" "14y" "" "" "" "" "" "" "achromatopsia, type 2 (ACHM-2)" "retinal disease" ""
"0000272403" "04214" "00377245" "00000" "Isolated (sporadic)" "54y" "see paper" "30y" "52y" "" "" "" "" "" "" "" "retinal disease" ""
"0000272433" "04214" "00377275" "00000" "Familial, autosomal recessive" "12y" "see paper" "2y" "5y" "" "" "" "" "" "" "achromatopsia, type 2 (ACHM-2)" "retinal disease" ""
"0000272859" "04214" "00377708" "00000" "Familial, autosomal recessive" "35y" "congenital nystagmus, photophobia and were color blind" "" "" "" "" "" "" "" "" "" "retinal dystrophy,autosomal recessive a achromatopsia." ""
"0000272860" "04214" "00377709" "00000" "Familial, autosomal recessive" "11y" "congenital nystagmus, photophobia and were color blind" "" "" "" "" "" "" "" "" "" "retinal dystrophy,autosomal recessive a achromatopsia." ""
"0000272861" "04214" "00377710" "00000" "Familial, autosomal recessive" "14y" "congenital nystagmus, photophobia and were color blind,showed the beginning of a Bulls, eye maculopathy" "" "" "" "" "" "" "" "" "" "retinal dystrophy,autosomal recessive a achromatopsia." ""
"0000272862" "04214" "00377711" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy,autosomal recessive a achromatopsia." ""
"0000273159" "04230" "00378012" "03508" "Familial, autosomal recessive" "" "HP:0000613, HP:0000639, HP:0000007, HP:0011516" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000273530" "04230" "00379686" "03508" "Familial, autosomal recessive" "" "HP:0030515,\tHP:0000613,\tHP:0001129,\tHP:0000639,\tHP:0000007,\tHP:0011516,\tHP:0000551" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000273622" "04230" "00379768" "03508" "Familial, autosomal recessive" "" "HP:0001141,\tHP:0000613,\tHP:0001129,\tHP:0000639,\tHP:0000551,\tHP:0011516" "" "" "" "" "" "" "" "" "" "achromatopsia (ACHM)" ""
"0000273986" "04214" "00380131" "00000" "Familial, autosomal recessive" "" "Cone-rod dysfunction" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" ""
"0000274033" "04214" "00380178" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000274034" "04214" "00380179" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000274047" "04214" "00380192" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000274048" "04214" "00380193" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000274137" "04214" "00380286" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000274138" "04214" "00380287" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000274708" "04214" "00380855" "00000" "Familial, autosomal recessive" "9y" "VA OD 20/300, VA OS 20/200" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000274709" "04214" "00380856" "00000" "Familial, autosomal recessive" "29y" "VA OD 20/200, VA OS 20/300" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000274710" "04214" "00380857" "00000" "Familial, autosomal recessive" "7y" "VA OD 20/300, VA OS 20/300" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000274711" "04214" "00380858" "00000" "Familial, autosomal recessive" "9y" "VA OD 20/125, VA OS 20/200" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000274713" "04214" "00380860" "00000" "Familial, autosomal recessive" "10y" "VA OD 20/200, VA OS 20/200" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000274956" "04214" "00381105" "00000" "Unknown" "7y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274957" "04214" "00381106" "00000" "Unknown" "10y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274958" "04214" "00381107" "00000" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274959" "04214" "00381108" "00000" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274960" "04214" "00381109" "00000" "Unknown" "17y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274961" "04214" "00381110" "00000" "Unknown" "19y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274962" "04214" "00381111" "00000" "Unknown" "22y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274963" "04214" "00381112" "00000" "Unknown" "22y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274964" "04214" "00381113" "00000" "Unknown" "24y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274965" "04214" "00381114" "00000" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274966" "04214" "00381115" "00000" "Unknown" "27y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274967" "04214" "00381116" "00000" "Unknown" "28y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274968" "04214" "00381117" "00000" "Unknown" "29y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274969" "04214" "00381118" "00000" "Unknown" "31y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274970" "04214" "00381119" "00000" "Unknown" "32y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274971" "04214" "00381120" "00000" "Unknown" "34y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274972" "04214" "00381121" "00000" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000274973" "04214" "00381122" "00000" "Unknown" "49y" "Foveal hypoplasia" "" "" "" "" "" "" "" "" "" "Achromatopsia (ACHM)" ""
"0000275809" "04214" "00381967" "00000" "Familial, autosomal recessive" "48y" "visual acuity : od: 0.6 , os: 0.8; fundus: foveal yellow spot on the right eye, regressed yellow spot with central scar on the left eye; color vision: no data; electroretinography: mferg: reduced central responses; photophobia: no; nystagmus : no; progression: mild" "44y" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000275810" "04214" "00381968" "00000" "Familial, autosomal recessive" "22y" "visual acuity : od: 0.1, os: 0.1; fundus: minor foveal pigment mottling, otherwise normal; color vision: impaired; electroretinography: erg examination not tolerated by patient; photophobia: yes; nystagmus : yes; progression: no follow up" "" "" "" "" "" "" "" "" "" "incomplete achromatopsia" ""
"0000275811" "04214" "00381969" "00000" "Familial, autosomal recessive" "23y" "visual acuity : od: 0.1, os: 0.1; fundus: no foveolar reflex, but positive wall reflex, otherwise normal; color vision: impaired; electroretinography: scotopic: normal, photopic: no responses; photophobia: yes; nystagmus : yes; progression: no" "0y" "" "" "" "" "" "" "" "" "oligo-cone trichromacy" ""
"0000275812" "04214" "00381970" "00000" "Familial, autosomal recessive" "30y" "visual acuity : od: 0.66, os: 0:5; fundus: foveal atrophy, tiny crystlline shean to degeneration of foveal atrophy, grey shean to anterior retina.; color vision: impaired; electroretinography: scotopic: , photopic: , 30 hz flicker:; photophobia: no; nystagmus : n.d.; progression: n.d." "30y" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000275813" "04214" "00381971" "00000" "Familial, autosomal recessive" "14y" "visual acuity : od: 0.1 , os: 0.2; fundus: no pathology, eccentric fixation; color vision: severely impaired; electroretinography: scotopic: normal, photopic: no response; photophobia: yes; nystagmus : yes; progression: no" "0y" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000275814" "04214" "00381972" "00000" "Familial, autosomal recessive" "17y" "visual acuity : od: 0.4, os: 0.25; fundus: normal fundus, normal oct; color vision: impaired; electroretinography: scotopic: normal, photopic: no response; photophobia: yes; nystagmus : yes; progression: no" "3m" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000275815" "04214" "00381973" "00000" "Familial, autosomal recessive" "53y" "visual acuity : od: 0.16 os: 0.125; fundus: macula dystrophic, outer periphery with pigment irregularities; color vision: severely impaired; electroretinography: scotopic: normal, photopic: no response; photophobia: yes; nystagmus : yes; progression: no" "0y" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000275816" "04214" "00381974" "00000" "Familial, autosomal recessive" "56y" "visual acuity : od: 0.1 , os: 0.1; fundus: normal, with slight pigmentary changes; color vision: severely impaired; electroretinography: scotopic: normal, photopic: severely diminished with only residual responses, 30 hz flicker: no response, ; photophobia: yes; nystagmus : no; progression: no" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000275817" "04214" "00381975" "00000" "Familial, autosomal recessive" "57y" "visual acuity : od: 0.06, os: 0.06; fundus: atrophic fovea, heavy rpe granularity, and pigmentary disruption; color vision: severely impaired; electroretinography: scotopic: below normal , photopic: 30 hz flicker dimished to extinct; photophobia: yes; nystagmus : yes; progression: yes" "" "" "" "" "" "" "" "" "" "incomplete achromatopsia" ""
"0000275965" "01715" "00382123" "00000" "Familial, autosomal recessive" "" "retinal dystrophy; MIM, 216900" "" "" "" "" "" "" "" "" "" "MIM, 216900" ""
"0000275966" "01715" "00382124" "00000" "Familial, autosomal recessive" "" "retinal dystrophy; MIM, 216900" "" "" "" "" "" "" "" "" "" "MIM, 216900" ""
"0000275967" "01715" "00382125" "00000" "Familial, autosomal recessive" "" "retinal dystrophy; MIM, 216900" "" "" "" "" "" "" "" "" "" "MIM, 216900" ""
"0000275968" "01715" "00382126" "00000" "Familial, autosomal recessive" "" "retinal dystrophy; MIM, 216900" "" "" "" "" "" "" "" "" "" "MIM, 216900" ""
"0000275969" "01721" "00382127" "00000" "Familial, autosomal recessive" "" "retinal dystrophy; MIM, 216900" "" "" "" "" "" "" "" "" "" "MIM, 216900" ""
"0000276647" "04214" "00382791" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277198" "04214" "00383413" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000277199" "04214" "00383414" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000277200" "04214" "00383415" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000277201" "04214" "00383416" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000277202" "04214" "00383417" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000277295" "04214" "00383510" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" ""
"0000278016" "04214" "00384231" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000278017" "04214" "00384232" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000278033" "04214" "00384248" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000278089" "04214" "00384304" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000278108" "04214" "00384323" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000278148" "04214" "00384363" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Low vision" ""
"0000278202" "04214" "00384417" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000278206" "04214" "00384421" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000278214" "04214" "00384429" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000278236" "04214" "00384451" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinoschisis?" ""
"0000278240" "04214" "00384455" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy?" ""
"0000278290" "04214" "00384505" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000278294" "04214" "00384509" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease ?" ""
"0000278968" "04214" "00385172" "00000" "Familial, autosomal recessive" "6y11m" "HP:0001249 Intellectual disability; HP:0000548 Cone/cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Cone dystrophy" ""
"0000280057" "04214" "00386254" "00000" "Familial, autosomal recessive" "28y" "" "" "24y" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000280072" "04214" "00386269" "00000" "Familial, autosomal recessive" "51y" "" "" "19y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280087" "04214" "00386284" "00000" "Familial, X-linked dominant" "52y" "" "" "15y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" ""
"0000280574" "04214" "00386774" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000281199" "04214" "00387636" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "Childhood retinal disease" ""
"0000281200" "04214" "00387637" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "Childhood retinal disease" ""
"0000282276" "04214" "00388735" "00000" "Familial, autosomal recessive" "60y" "age at genetic diagnosis mentioned" "" "54y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000282277" "04214" "00388736" "00000" "Familial, autosomal recessive" "62y" "age at genetic diagnosis mentioned" "" "56y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000282787" "04214" "00389246" "00000" "Familial, autosomal recessive" "33y" "age at genetic diagnosis mentioned" "" "28y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283260" "04214" "00389719" "00000" "Familial, autosomal recessive" "51y" "age at genetic diagnosis mentioned" "" "50y" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000283268" "04214" "00389727" "00000" "Familial, autosomal recessive" "42y" "age at genetic diagnosis mentioned" "" "36y" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000283285" "04214" "00389744" "00000" "Familial, autosomal recessive" "24y" "age at genetic diagnosis mentioned" "" "20y" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000283352" "04214" "00389811" "00000" "Familial, autosomal recessive" "47y" "age at genetic diagnosis mentioned" "" "38y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283379" "04214" "00389838" "00000" "Familial, autosomal recessive" "23y" "age at genetic diagnosis mentioned" "" "15y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283380" "04214" "00389839" "00000" "Familial, autosomal recessive" "25y" "age at genetic diagnosis mentioned" "" "16y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283385" "04214" "00389844" "00000" "Familial, autosomal recessive" "16y" "age at genetic diagnosis mentioned" "" "7y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283399" "04214" "00389858" "00000" "Familial, autosomal recessive" "13y" "age at genetic diagnosis mentioned" "" "5y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283400" "04214" "00389859" "00000" "Familial, autosomal recessive" "10y" "age at genetic diagnosis mentioned" "" "3y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283403" "04214" "00389862" "00000" "Familial, autosomal recessive" "19y" "age at genetic diagnosis mentioned" "" "11y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283411" "04214" "00389870" "00000" "Familial, autosomal recessive" "9y" "age at genetic diagnosis mentioned" "" "2y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283428" "04214" "00389887" "00000" "Familial, autosomal recessive" "62y" "age at genetic diagnosis mentioned" "" "55y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283456" "04214" "00389915" "00000" "Familial, autosomal recessive" "42y" "age at genetic diagnosis mentioned" "" "36y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283484" "04214" "00389943" "00000" "Familial, autosomal recessive" "8y" "age at genetic diagnosis mentioned" "" "2y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283538" "04214" "00389997" "00000" "Familial, autosomal recessive" "11y" "age at genetic diagnosis mentioned" "" "8y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283541" "04214" "00390000" "00000" "Familial, autosomal recessive" "32y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283556" "04214" "00390015" "00000" "Familial, autosomal recessive" "6y" "age at genetic diagnosis mentioned" "" "5y" "" "" "" "" "" "" "achromatopsia" "" ""
"0000283761" "04214" "00390223" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283762" "04214" "00390224" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000284230" "04214" "00390742" "00000" "Familial, autosomal recessive" "36y" "Visual acuity right eye/left eye: 1/10_1/10, normal fundus examination, high myopia, normal macula" "0m" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000284487" "04214" "00390999" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284828" "04214" "00391388" "00000" "Unknown" "" "diagnosis unsure" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" ""
"0000284882" "04214" "00391546" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000284910" "04214" "00391574" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285084" "04214" "00391761" "00006" "Familial, autosomal recessive" "63y" "see paper; ..., achromatopsia, moderate photobia, slight nystagmus" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285085" "04214" "00391762" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., achromatopsia, severe photobia, slight nystagmus" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285086" "04214" "00391763" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., achromatopsia, severe photobia, severe nystagmus" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285087" "04214" "00391764" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., achromatopsia, severe photobia, severe nystagmus" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285088" "04214" "00391765" "00006" "Familial, autosomal recessive" "38y" "see paper; ..., achromatopsia, moderate photobia, severe nystagmus" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285089" "04214" "00391766" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., achromatopsia, severe photobia, moderate nystagmus" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285096" "04214" "00391773" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285097" "04214" "00391774" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285098" "04214" "00391775" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285099" "04214" "00391776" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285100" "04214" "00391777" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285101" "04214" "00391778" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285144" "04214" "00391831" "00006" "Familial, autosomal recessive" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285146" "04214" "00391833" "00006" "Familial, autosomal recessive" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000285172" "04214" "00391882" "00000" "Unknown" "" "fundus: poor foveal reflex, electroretinogram responses: rod: moderately reduced, cone: extinguished" "" "3y" "nystagmus" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285173" "04214" "00391883" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.08/0.08, fundus: poor foveal reflex, electroretinogram responses: rod: severely reduced, cone: severely reduced" "2m" "3y" "nystagmus, photophobia" "" "" "" "" "" "" "retinal disease" ""
"0000285174" "04214" "00391884" "00000" "Unknown" "" "fundus: normal, electroretinogram responses: rod: moderately reduced, cone: extinguished" "1y" "3y" "photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285175" "04214" "00391885" "00000" "Unknown" "" "fundus: normal, electroretinogram responses: rod: moderately reduced, cone: extinguished" "<1y" "1m" "nystagmus, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285176" "04214" "00391886" "00000" "Unknown" "" "electroretinogram responses: rod: severely reduced, cone: extinguished" "<1y" "2y6m" "nystagmus, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285177" "04214" "00391887" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.1/0.04, fundus: normal, electroretinogram responses: rod: normal, cone: extinguished" "<1y" "7y" "poor vision, photophobia" "" "" "" "" "" "" "achromatopsia" ""
"0000285178" "04214" "00391888" "00000" "Unknown" "" "fundus: examination not available, electroretinogram responses: rod: extinguished, cone: extinguished" "<1y" "5m" "na" "" "" "" "" "" "" "retinal disease" ""
"0000285179" "04214" "00391889" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.03/0.03, fundus: leopard fundus, electroretinogram responses: rod: moderately reduced, cone: extinguished," "<1y" "4y" "nystagmus, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285180" "04214" "00391890" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.07/0.05, fundus: normal" "3y" "5y" "poor vision, photophobia" "" "" "" "" "" "" "retinal disease" ""
"0000285181" "04214" "00391891" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.1/0.1, fundus: normal" "<8y" "32y" "poor vision" "" "" "" "" "" "" "retinal disease" ""
"0000285182" "04214" "00391892" "00000" "Unknown" "" "fundus: poor foveal reflex, electroretinogram responses: rod: severely reduced, cone: severely reduced" "2m" "1y" "nystagmus, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285183" "04214" "00391893" "00000" "Unknown" "" "fundus: normal, electroretinogram responses: rod: normal, cone: severely reduced" "6m" "9m" "nystagmus" "" "" "" "" "" "" "achromatopsia" ""
"0000285184" "04214" "00391894" "00000" "Unknown" "" "fundus: poor foveal reflex" "<1y" "3y" "photophobia, poor vision" "" "" "" "" "" "" "achromatopsia" ""
"0000285185" "04214" "00391895" "00000" "Unknown" "" "fundus: poor foveal reflex, electroretinogram responses: rod: normal, cone: severely reduced" "<1y" "2y" "nystagmus, photophobia" "" "" "" "" "" "" "achromatopsia" ""
"0000285186" "04214" "00391896" "00000" "Unknown" "" "fundus: normal, electroretinogram responses: rod: mildly reduced, cone: extinguished" "<1y" "8m" "nystagmus, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285187" "04214" "00391897" "00000" "Unknown" "" "fundus: poor foveal reflex, electroretinogram responses: rod: severely reduced, cone: severely reduced" "6m" "2y" "photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285188" "04214" "00391898" "00000" "Unknown" "" "fundus: temporal disc pallor, electroretinogram responses: rod: normal, cone: extinguished" "3m" "1y" "nystagmus" "" "" "" "" "" "" "achromatopsia" ""
"0000285189" "04214" "00391899" "00000" "Unknown" "" "fundus: normal, electroretinogram responses: rod: moderately reduced, cone: extinguished" "3m" "8m" "nystagmus, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285190" "04214" "00391900" "00000" "Unknown" "" "fundus: examination not available, electroretinogram responses: rod: moderately reduced, cone: extinguished" "5m" "1y" "nystagmus" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285191" "04214" "00391901" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.1/0.1, fundus: poor foveal reflex, electroretinogram responses: rod: mildly reduced, cone: extinguished" "<8y" "9y" "poor vision, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285192" "04214" "00391902" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.2/0.1, fundus: normal, electroretinogram responses: rod: mildly reduced, cone: extinguished" "<8y" "16y" "poor vision, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285193" "04214" "00391903" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.15/0.2, fundus: normal" "8y" "10y" "poor vision" "" "" "" "" "" "" "retinal disease" ""
"0000285194" "04214" "00391904" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.05/0.05, fundus: normal, electroretinogram responses: rod: normal, cone: extinguished" "<8y" "24y" "nystagmus, poor vision, photophobia" "" "" "" "" "" "" "achromatopsia" ""
"0000285195" "04214" "00391905" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.1/0.2, fundus: leopard fundus, electroretinogram responses: rod: normal, cone: severely reduced," "6m" "5y" "nystagmus, poor vision" "" "" "" "" "" "" "achromatopsia" ""
"0000285196" "04214" "00391906" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.1/0.15, fundus: waxy pale discs, electroretinogram responses: rod: moderately reduced, cone: severely reduced" "<1y" "4y" "poor vision" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285197" "04214" "00391907" "00000" "Unknown" "" "fundus: normal, electroretinogram responses: rod: moderately reduced, cone: extinguished" "<1y" "4y" "photophobia, poor vision" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285198" "04214" "00391908" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.05/0.05, fundus: examination not available, electroretinogram responses: rod: moderately reduced, cone: extinguished," "<1y" "11m" "nystagmus" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285199" "04214" "00391909" "00000" "Unknown" "" "fundus: leopard fundus, electroretinogram responses: rod: mildly reduced, cone: extinguished" "3m" "1y" "nystagmus, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285200" "04214" "00391910" "00000" "Unknown" "" "fundus: attenuated retinal arterioles, electroretinogram responses: rod: mildly reduced, cone: severely reduced" "<1y" "2y6m" "photophobia, nystagmus" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285201" "04214" "00391911" "00000" "Unknown" "" "fundus: poor foveal reflex, electroretinogram responses: rod: moderately reduced, cone: extinguished" "<1y" "7m" "nystagmus, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285202" "04214" "00391912" "00000" "Unknown" "" "fundus: poor foveal reflex, electroretinogram responses: rod: moderately reduced, cone: extinguished" "10m" "1y" "photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285203" "04214" "00391913" "00000" "Unknown" "" "fundus: normal, electroretinogram responses: rod: moderately reduced, cone: severely reduced" "<8y" "4y" "poor vision, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285204" "04214" "00391914" "00000" "Unknown" "" "fundus: normal, electroretinogram responses: rod: extinguished, cone: extinguished" "<1y" "1y6m" "nystagmus, photophobia" "" "" "" "" "" "" "retinal disease" ""
"0000285205" "04214" "00391915" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.05/0.05, fundus: normal" "1y" "4y" "nystagmus, photophobia" "" "" "" "" "" "" "retinal disease" ""
"0000285206" "04214" "00391916" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.05/0.07, fundus: macular dystrophy, poor foveal reflex, optical coherence tomography: foveal hypoplasia" "5m" "7y" "poor vision" "" "" "" "" "" "" "macular dystrophy" ""
"0000285207" "04214" "00391917" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.06/0.06, fundus: leopard fundus, crescent, attenuated retinal arterioles, electroretinogram responses: rod: mildly reduced, cone: severely reduced," "<8y" "29y" "poor vision, photophobia" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000285208" "04214" "00391918" "00000" "Unknown" "" "fundus: attenuated retinal arterioles" "<1y" "3y" "nystagmus, photophobia, poor vision" "" "" "" "" "" "" "achromatopsia" ""
"0000285415" "04214" "00392137" "00000" "Unknown" "17y" "best corrected visual acuity right/left eye: 0.8/0.8, visual field: constricted, fundus: RPE atrophy, fundus autofluorescence: hyperautofluorescence macular ring, optical coherence tomography: paracentral thinning, center spared" "" "9y" "" "" "" "" "" "" "RPN-432" "rod-cone dystrophy" ""
"0000285416" "04214" "00392138" "00000" "Unknown" "13y" "best corrected visual acuity right/left eye: 1.0/1.0, visual field: , fundus: RPE atrophy, choroidosis, fundus autofluorescence:normal, optical coherence tomography: normal" "" "8y" "" "" "" "" "" "" "RPN-433" "rod-cone dystrophy" ""
"0000285440" "04214" "00392162" "00000" "Unknown" "17y" "best corrected visual acuity right/left eye: 0.8/0.8, visual field: constricted, fundus: RPE atrophy, fundus autofluorescence: hyperautofluorescence macular ring, optical coherence tomography: paracentral thinning, center spared" "" "9y" "" "" "" "" "" "" "RPN-432" "rod-cone dystrophy" ""
"0000285441" "04214" "00392163" "00000" "Unknown" "13y" "best corrected visual acuity right/left eye: 1.0/1.0, visual field: , fundus: RPE atrophy, choroidosis, fundus autofluorescence:normal, optical coherence tomography: normal" "" "8y" "" "" "" "" "" "" "RPN-433" "rod-cone dystrophy" ""
"0000287176" "04214" "00393970" "00000" "Familial, autosomal recessive" "7y" "Foveal HypoPlasia" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000287177" "04214" "00393971" "00000" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000287178" "04214" "00393972" "00000" "Familial, autosomal recessive" "29y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000287179" "04214" "00393973" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000287180" "04214" "00393974" "00000" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000287181" "04214" "00393975" "00000" "Familial, autosomal recessive" "32y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000287182" "04214" "00393976" "00000" "Familial, autosomal recessive" "59y" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" ""
"0000289638" "04214" "00396477" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Cone Dystrophy" "" ""
"0000291366" "04214" "00398242" "00000" "Familial, autosomal recessive" "33y" "best-corrected visual acuity right/left eye: 0.16/0.16, refraction: .5/ 1.0, cone electroretinography: no response, color vision: none, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291367" "04214" "00398243" "00000" "Familial, autosomal recessive" "54y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: .5/ .5, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291368" "04214" "00398244" "00000" "Familial, autosomal recessive" "21y" "best-corrected visual acuity right/left eye: 0.05/0.05, refraction: 1.8/ 2.75, cone electroretinography: no response, color vision: none, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291369" "04214" "00398245" "00000" "Familial, autosomal recessive" "38y" "best-corrected visual acuity right/left eye: 0.12/0.12, refraction: 1.5/ 2.25, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291370" "04214" "00398246" "00000" "Familial, autosomal recessive" "43y" "best-corrected visual acuity right/left eye: 0.15/0.15, refraction: 1.75/ 1.25, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291371" "04214" "00398247" "00000" "Familial, autosomal recessive" "20y" "best-corrected visual acuity right/left eye: 0.2/0.08, refraction: 1.5/.8, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291372" "04214" "00398248" "00000" "Familial, autosomal recessive" "21y" "best-corrected visual acuity right/left eye: 0.1/0.08, refraction: 5.0/ 6.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291373" "04214" "00398249" "00000" "Familial, autosomal recessive" "9y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 6.0/6.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291374" "04214" "00398250" "00000" "Familial, autosomal recessive" "15y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 1.5/1.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291375" "04214" "00398251" "00000" "Familial, autosomal recessive" "6y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 7.0/7.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291376" "04214" "00398252" "00000" "Familial, autosomal recessive" "15y" "best-corrected visual acuity right/left eye: 0.05/0.05, refraction: 13.0/13.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291377" "04214" "00398253" "00000" "Familial, autosomal recessive" "48y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: Hyperopic, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291378" "04214" "00398254" "00000" "Familial, autosomal recessive" "50y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: Hyperopic, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291379" "04214" "00398255" "00000" "Familial, autosomal recessive" "51y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 8.0/7.7, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291380" "04214" "00398256" "00000" "Familial, autosomal recessive" "62y" "best-corrected visual acuity right/left eye: 0.05/0.05, refraction: 1.25/1.5, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291381" "04214" "00398257" "00000" "Familial, autosomal recessive" "10y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 1.7/1.7, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291382" "04214" "00398258" "00000" "Familial, autosomal recessive" "11y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 2.2/ 3.2, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291383" "04214" "00398259" "00000" "Familial, autosomal recessive" "49y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 2.0/ 2.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291384" "04214" "00398260" "00000" "Familial, autosomal recessive" "10y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 1.0/ 1.5, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291385" "04214" "00398261" "00000" "Familial, autosomal recessive" "9y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 2.0/ 3.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291386" "04214" "00398262" "00000" "Familial, autosomal recessive" "12y" "best-corrected visual acuity right/left eye: 0.1/0.05, refraction: .5/.5, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291387" "04214" "00398263" "00000" "Familial, autosomal recessive" "14y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 3.75/4.5, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291388" "04214" "00398264" "00000" "Familial, autosomal recessive" "47y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 3.0/5.25, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291389" "04214" "00398265" "00000" "Familial, autosomal recessive" "32y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 3.25/ 3.25, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291390" "04214" "00398266" "00000" "Familial, autosomal recessive" "7y" "best-corrected visual acuity right/left eye: 0.15/0.15, refraction: 3.5/3.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291391" "04214" "00398267" "00000" "Familial, autosomal recessive" "7y" "best-corrected visual acuity right/left eye: 0.1/0.15, refraction: 7.0/7.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291392" "04214" "00398268" "00000" "Familial, autosomal recessive" "14y" "best-corrected visual acuity right/left eye: 0.15/0.15, refraction: 6.0/5.0, cone electroretinography: no response, color vision: none, photophobia, transient nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291393" "04214" "00398269" "00000" "Familial, autosomal recessive" "28y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 4.5/4.5, cone electroretinography: no response, color vision: none, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291394" "04214" "00398270" "00000" "Familial, autosomal recessive" "9y" "best-corrected visual acuity right/left eye: 0.05/0.05, refraction: .75/ 1.75, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291395" "04214" "00398271" "00000" "Familial, autosomal recessive" "12y" "best-corrected visual acuity right/left eye: 0.16/0.12, refraction: .75/.25, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291396" "04214" "00398272" "00000" "Familial, autosomal recessive" "8y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 2.0/1.75, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291397" "04214" "00398273" "00000" "Familial, autosomal recessive" "27y" "best-corrected visual acuity right/left eye: 0.16/0.1, refraction: Myopic, cone electroretinography: no response, color vision: none, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291398" "04214" "00398274" "00000" "Familial, autosomal recessive" "13y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 5.5/6.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Complete achromatopsia" "" ""
"0000291399" "04214" "00398275" "00000" "Familial, autosomal recessive" "23y" "best-corrected visual acuity right/left eye: 0.2/0.125, refraction: 2.0/3.25, cone electroretinography: reduced response, color vision: yes, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291400" "04214" "00398276" "00000" "Familial, autosomal recessive" "13y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: .75/.75, cone electroretinography: residual response, color vision: residual red, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291401" "04214" "00398277" "00000" "Familial, autosomal recessive" "3y" "best-corrected visual acuity right/left eye: ∼0.2/∼0.2, refraction: .375/.375, cone electroretinography: residual response, color vision: abnormal, moderate photophobia, nysta" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291402" "04214" "00398278" "00000" "Familial, autosomal recessive" "13y" "best-corrected visual acuity right/left eye: 0.5/0.3, refraction: 3.5/3.75, cone electroretinography: reduced response, color vision: slightly abnormal, moderate photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291403" "04214" "00398279" "00000" "Familial, autosomal recessive" "18y" "best-corrected visual acuity right/left eye: 0.6/0.4, refraction: 5.5/ 5.0, cone electroretinography: reduced response, color vision: slightly abnormal, moderate photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291404" "04214" "00398280" "00000" "Familial, autosomal recessive" "18y" "best-corrected visual acuity right/left eye: 0.06/0.05, refraction: .75/ .25, cone electroretinography: residual response, color vision: severely defective, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291405" "04214" "00398281" "00000" "Familial, autosomal recessive" "7y" "best-corrected visual acuity right/left eye: 0.2/0.12, refraction: .75/.75, cone electroretinography: no response, color vision: residual blue, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291406" "04214" "00398282" "00000" "Familial, autosomal recessive" "3y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 3.5/3.5, cone electroretinography: strongly reduced response, color vision: not determined, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291407" "04214" "00398283" "00000" "Familial, autosomal recessive" "4y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 1.75/1.75, cone electroretinography: residual response, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291408" "04214" "00398284" "00000" "Familial, autosomal recessive" "12y" "best-corrected visual acuity right/left eye: 0.15/0.1, refraction: 3.75/4.25, cone electroretinography: not performed, color vision: residual red anot determined yellow, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291409" "04214" "00398285" "00000" "Familial, autosomal recessive" "17y" "best-corrected visual acuity right/left eye: 0.1/0.06, refraction: 0/0, cone electroretinography: response, color vision: residual blue, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291410" "04214" "00398286" "00000" "Familial, autosomal recessive" "34y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 6.0/5.5, cone electroretinography: reduced response, color vision: abnormal, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291411" "04214" "00398287" "00000" "Familial, autosomal recessive" "36y" "best-corrected visual acuity right/left eye: 0.2/0.2, refraction: 3.0/3.0, cone electroretinography: reduced response, color vision: abnormal, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291412" "04214" "00398288" "00000" "Familial, autosomal recessive" "34y" "best-corrected visual acuity right/left eye: 0.125/0.125, refraction: 12.0/ 10.0, cone electroretinography: reduced response ∼80%, color vision: abnormal, photophobia, nystagm" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291413" "04214" "00398289" "00000" "Familial, autosomal recessive" "40y" "best-corrected visual acuity right/left eye: 0.2/0.2, refraction: 2.0/0, cone electroretinography: no response, color vision: abnormal, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291414" "04214" "00398290" "00000" "Familial, autosomal recessive" "63y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: .75/ .5, cone electroretinography: strongly reduced response, color vision: abnormal, photophobia, mild nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291415" "04214" "00398291" "00000" "Familial, autosomal recessive" "56y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 5.6/6.3, cone electroretinography: residual response, color vision: severely defective, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291416" "04214" "00398292" "00000" "Familial, autosomal recessive" "16y" "best-corrected visual acuity right/left eye: 0.16/0.16, refraction: 7.25/ 9.75, cone electroretinography: not performed, color vision: abnormal, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291417" "04214" "00398293" "00000" "Familial, autosomal recessive" "56y" "best-corrected visual acuity right/left eye: 0.2/0.16, refraction: .25/0, cone electroretinography: residual response, color vision: slightly abnormal, no photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291418" "04214" "00398294" "00000" "Familial, autosomal recessive" "17y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 4.0/4.25, cone electroretinography: no response, color vision: abnormal, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291419" "04214" "00398295" "00000" "Familial, autosomal recessive" "15y" "best-corrected visual acuity right/left eye: 0.05/0.05, refraction: 6.5/ 6.0, cone electroretinography: absent response, color vision: defective, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Cone dystrophy" "" ""
"0000291420" "04214" "00398296" "00000" "Familial, autosomal recessive" "23y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 1.25/ 1.0, cone electroretinography: reduced response, color vision: abnormal, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "Cone dystrophy" "" ""
"0000291421" "04214" "00398297" "00000" "Familial, autosomal recessive" "32y" "best-corrected visual acuity right/left eye: !0.05/!0.05, refraction: 3.5/2.5, cone electroretinography: absent response, color vision: severely defective, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Cone dystrophy" "" ""
"0000291422" "04214" "00398298" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291423" "04214" "00398299" "00000" "Familial, autosomal recessive" "2y" "best-corrected visual acuity right/left eye: not determined, refraction: 5.0/5.75, cone electroretinography: not performed, color vision: not determinedphotophobia, nystagmus" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291424" "04214" "00398300" "00000" "Familial, autosomal recessive" "2y" "best-corrected visual acuity right/left eye: not determined, refraction: 1.5/1.5, cone electroretinography: not performed, color vision: not determined, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291425" "04214" "00398301" "00000" "Familial, autosomal recessive" "59y" "best-corrected visual acuity right/left eye: 0.2/0.2, refraction: 3.8/2.8, cone electroretinography: no response, color vision: none, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291426" "04214" "00398302" "00000" "Familial, autosomal recessive" "2y" "best-corrected visual acuity right/left eye: , refraction: phenotyping: no data available, color vision: not determined" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291427" "04214" "00398303" "00000" "Familial, autosomal recessive" "25y" "best-corrected visual acuity right/left eye: 0.16/0.16, refraction: 3.0/3.5, cone electroretinography: no response, color vision: not determined, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291428" "04214" "00398304" "00000" "Familial, autosomal recessive" "3y" "best-corrected visual acuity right/left eye: not determined, refraction: ND, cone electroretinography: no response, color vision: not determined, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291429" "04214" "00398305" "00000" "Familial, autosomal recessive" "14y" "best-corrected visual acuity right/left eye: 0.2/0.2, refraction: 3.5/3.5, cone electroretinography: no response, color vision: abnormal, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291430" "04214" "00398306" "00000" "Familial, autosomal recessive" "25y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 1.25/ 2.0, cone electroretinography: not performed, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291431" "04214" "00398307" "00000" "Familial, autosomal recessive" "5y" "best-corrected visual acuity right/left eye: 0.15/0.15, refraction: .75/1.5, cone electroretinography: not performed, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291432" "04214" "00398308" "00000" "Familial, autosomal recessive" "6y" "best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 3.5/ 3.5, cone electroretinography: no response, color vision: not determined, photophobia, nystagmus" "" "" "" "" "" "" "" "" "Achromatopsia (non-classified)" "" ""
"0000291441" "04214" "00398318" "00000" "Familial, autosomal recessive" "13y" "photophobia, occasional pendular nystagmus; visual acuity of AH 0.3 (with spectacles) and 0.4 (with contact lenses); the patient performed well on the Farnsworth panel D-15 test, producing either no error (saturated version) or a single error (desaturated version). Her anomalous quotient (Rayleigh red– green equation) on the Nagel type I anomaloscope was 0.67 (slightly protanomalous, indicating a slight weakness or alteration in L cone function" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291442" "04214" "00398318" "00000" "Familial, autosomal recessive" "17y" "photophobia, occasional pendular nystagmus; visual acuity of NH was 0.5 (with spectacles) and 0.6 (with contact lenses); the patient performed worse than sibling on the Farnsworth panel D-15 test, with a strong tendency of confusions along the tritan axis (indicating a weakness in S cone function). Her anomalous quotient on the Nagel type I anomaloscope was 0.40 (more strongly protanomalous than that of sibling AH)." "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291444" "04214" "00398321" "00000" "Familial, autosomal recessive" "" "photophobia and visual loss in both eyes; bilateral 5-deg central scotomas; BCVA was 0.1 in both eyes, and refractions were 2.75 cylinder 10 deg in the right eye and 1.25 sphere, 3.00 cylinder 270 deg in the left eye" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291446" "04214" "00398323" "00000" "Familial, autosomal recessive" "1y" "" "" "" "" "" "" "" "" "" "Cone dystrophy" "" ""
"0000291447" "04214" "00398324" "00000" "Familial, autosomal recessive" "11y" "abnormal colour vision" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291448" "04214" "00398325" "00000" "Familial, autosomal recessive" "18y" "severely reduced colour vision, residual cone ERG" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291449" "04214" "00398326" "00000" "Familial, autosomal recessive" "6y" "reduced cone ERG" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291450" "04214" "00398327" "00000" "Familial, autosomal recessive" "3y" "reduced cone ERG" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291451" "04214" "00398328" "00000" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291452" "04214" "00398329" "00000" "Familial, autosomal recessive" "34y" "abnormal colour vision, cone ERG 80% reduced" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291453" "04214" "00398330" "00000" "Familial, autosomal recessive" "40y" "abnormal colour vision" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291454" "04214" "00398331" "00000" "Familial, autosomal recessive" "33y" "" "" "" "" "" "" "" "" "" "Incomplete achromatopsia" "" ""
"0000291599" "04214" "00398473" "00000" "Familial, autosomal recessive" "29y" "visual acuity right/left eye: 0.1/0.33, cone electroretinography response: reduced, color vision: impaired, photophobia: data not available, nystagmus" "" "" "" "" "" "" "" "" "incomplete achromatopsia" "" ""
"0000291600" "04214" "00398474" "00000" "Familial, autosomal recessive" "26y" "visual acuity right/left eye: 0.1/0.33, cone electroretinography response: reduced, color vision: impaired, photophobia: data not available, nystagmus" "" "" "" "" "" "" "" "" "incomplete achromatopsia" "" ""
"0000291601" "04214" "00398475" "00000" "Familial, autosomal recessive" "45y" "visual acuity right/left eye: 0.05/0.05, cone electroretinography response: absent, color vision: none, photophobia, no nystagmus" "" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000291602" "04214" "00398476" "00000" "Familial, autosomal recessive" "5y" "visual acuity right/left eye: 0.1/0.1, cone electroretinography response: absent, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291603" "04214" "00398477" "00000" "Familial, autosomal recessive" "13y" "visual acuity right/left eye: 0.125/0.125, cone electroretinography response: absent, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291604" "04214" "00398478" "00000" "Familial, autosomal recessive" "13y" "visual acuity right/left eye: 0.1/0.2, cone electroretinography response: absent, color vision: severely defective, photophobia, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291605" "04214" "00398479" "00000" "Familial, autosomal recessive" "5y" "visual acuity right/left eye: 0.05/0.05, cone electroretinography response: absent, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291606" "04214" "00398480" "00000" "Familial, autosomal recessive" "8y" "visual acuity right/left eye: 0.2/0.2, cone electroretinography response: absent, color vision: slightly impaired, photophobia: data not available, nystagmus: data not available" "" "" "" "" "" "" "" "" "incomplete achromatopsia/oligocone trichromacy" "" ""
"0000291607" "04214" "00398481" "00000" "Familial, autosomal recessive" "9y" "visual acuity right/left eye: 0.16/0.16, cone electroretinography response: absent, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291608" "04214" "00398482" "00000" "Familial, autosomal recessive" "7y" "visual acuity right/left eye: 0.1/0.1, cone electroretinography response: absent, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291609" "04214" "00398483" "00000" "Familial, autosomal recessive" "7y" "visual acuity right/left eye: 0.1/0.06, cone electroretinography response: absent, color vision: none, photophobia: data not available, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291610" "04214" "00398484" "00000" "Familial, autosomal recessive" "39y" "visual acuity right/left eye: 0.1/0.1, cone electroretinography response: absent, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291611" "04214" "00398485" "00000" "Familial, autosomal recessive" "7y" "visual acuity right/left eye: 0.1/0.1, cone electroretinography response: absent, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291612" "04214" "00398486" "00000" "Familial, autosomal recessive" "46y" "visual acuity right/left eye: 0.16/0.16, cone electroretinography response: absent, color vision: data not available, photophobia: data not available, nystagmus: data not available" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291613" "04214" "00398487" "00000" "Familial, autosomal recessive" "6y" "visual acuity right/left eye: 0.05/0.05, cone electroretinography response: data not available, color vision: data not available, photophobia, nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291614" "04214" "00398488" "00000" "Familial, autosomal recessive" "29y" "visual acuity right/left eye: 0.1/0.1, cone electroretinography response: data not available, color vision: impaired, photophobia, nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291615" "04214" "00398489" "00000" "Familial, autosomal recessive" "16y" "visual acuity right/left eye: Reduced, cone electroretinography response: absent, color vision: impaired, photophobia, nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291616" "04214" "00398490" "00000" "Familial, autosomal recessive" "22y" "visual acuity right/left eye: Reduced, cone electroretinography response: data not available, color vision: impaired, photophobia, nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291617" "04214" "00398491" "00000" "Familial, autosomal recessive" "41y" "visual acuity right/left eye: 0.1/0.05, cone electroretinography response: absent, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291618" "04214" "00398492" "00000" "Familial, autosomal recessive" "1y" "visual acuity right/left eye: 0.1/0.3, cone electroretinography response: reduced, color vision: data not available, no photophobia, nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291619" "04214" "00398493" "00000" "Familial, autosomal recessive" "24y" "visual acuity right/left eye: 0.05/0.05, cone electroretinography response: data not available, color vision: impaired, photophobia, nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291620" "04214" "00398494" "00000" "Familial, autosomal recessive" "35y" "visual acuity right/left eye: 0.2/0.2, cone electroretinography response: reduced, color vision: impaired, photophobia, nystagmus" "" "" "" "" "" "" "" "" "incomplete achromatopsia" "" ""
"0000291621" "04214" "00398495" "00000" "Familial, autosomal recessive" "4y" "visual acuity right/left eye: 0.1/0.1, cone electroretinography response: absent, color vision: none, photophobia, nystagmus" "" "" "" "" "" "" "" "" "complete achromatopsia" "" ""
"0000291622" "04214" "00398496" "00000" "Familial, autosomal recessive" "16y" "visual acuity right/left eye: 0.25/0.2, cone electroretinography response: absent, color vision: mildly impaired, photophobia, nystagmus" "" "" "" "" "" "" "" "" "oligocone trichromacy" "" ""
"0000291630" "04214" "00398503" "00000" "Familial, autosomal recessive" "16y" "visual acuity: 0.2/0.2" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291631" "04214" "00398504" "00000" "Familial, autosomal recessive" "14y" "visual acuity: 0.2/0.2" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291632" "04214" "00398505" "00000" "Familial, autosomal recessive" "10y" "visual acuity: 0.2/0.2" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291633" "04214" "00398506" "00000" "Familial, autosomal recessive" "8y" "visual acuity: 0.25/0.25" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291634" "04214" "00398507" "00000" "Familial, autosomal recessive" "5y" "visual acuity: 0.2/0.2" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291635" "04214" "00398508" "00000" "Familial, autosomal recessive" "12y" "visual acuity: 0.05/0.05" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291636" "04214" "00398509" "00000" "Familial, autosomal recessive" "6y" "visual acuity: no data" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291640" "04214" "00398512" "00000" "Familial, autosomal recessive" "12y" "visual acuity right/left eye: 0.04/0.05, electroretinogram: not determined, color vision: none, photophobia, nystagmus" "" "" "" "severely diminished currents" "" "" "" "" "complete achromatopsia" "" ""
"0000291641" "04214" "00398513" "00000" "Familial, autosomal recessive" "5y" "visual acuity right/left eye: not determined, electroretinogram: not determined, color vision: abnormal, photophobia, nystagmus" "" "" "" "no responses in calcium imaging measurements" "" "" "" "" "achromatopsia" "" ""
"0000291642" "04214" "00398514" "00000" "Familial, autosomal recessive" "1y" "visual acuity right/left eye: not determined, electroretinogram: residual, color vision: not determined, photophobia: not determined, nystagmus" "" "" "" "no responses in calcium imaging measurements" "" "" "" "" "achromatopsia" "" ""
"0000291643" "04214" "00398515" "00000" "Familial, autosomal recessive" "4y" "visual acuity right/left eye: 0.10/0.07, electroretinogram: none, color vision: none, photophobia, nystagmus" "" "" "" "cGMP dose-response relationships of heteromeric channels significantly lower" "" "" "" "" "complete achromatopsia" "" ""
"0000291644" "04214" "00398516" "00000" "Familial, autosomal recessive" "2y" "visual acuity right/left eye: not determined, electroretinogram: not determined, color vision: not determined, photophobia, nystagmus" "" "" "" "cGMP dose-response relationships of heteromeric channels significantly lower" "" "" "" "" "achromatopsia" "" ""
"0000291645" "04214" "00398517" "00000" "Familial, autosomal recessive" "12y" "visual acuity right/left eye: 0.10/0.10, electroretinogram: no response, color vision: none, photophobia, nystagmus" "" "" "" "cGMP dose-response relationships of heteromeric channels significantly lower" "" "" "" "" "complete achromatopsia" "" ""
"0000291646" "04214" "00398518" "00000" "Familial, autosomal recessive" "29y" "" "" "" "" "cGMP dose-response relationships of heteromeric channels significantly lower" "" "" "" "" "achromatopsia" "" ""
"0000291647" "04214" "00398519" "00000" "Familial, autosomal recessive" "23y" "visual acuity right/left eye: 0.10/0.10, electroretinogram: no response, color vision: none, photophobia, nystagmus" "" "" "" "no responses in calcium imaging measurements" "" "" "" "" "complete achromatopsia" "" ""
"0000291648" "04214" "00398520" "00000" "Familial, autosomal recessive" "4y" "visual acuity right/left eye: 0.20/0.20, electroretinogram: residual, color vision: abnormal, photophobia, nystagmus" "" "" "" "no responses in calcium imaging measurements" "" "" "" "" "achromatopsia" "" ""
"0000291649" "04214" "00398521" "00000" "Familial, autosomal recessive" "6y" "visual acuity right/left eye: 0.10/0.10, electroretinogram: not determined, color vision: abnormal, photophobia, nystagmus" "" "" "" "severely diminished currents" "" "" "" "" "achromatopsia" "" ""
"0000291668" "04214" "00398540" "00000" "Familial, autosomal recessive" "20y" "Best corrected visual acuity right/left eye: 20/50 / 20/30; color vision, fundus appearance, fundus autofluorescence, optical coherence tomography, Goldmann visual fields: normal. Humphrey visual field analysis: reduced sensitivity and paracentral scotomas (5–20°); full-field electroretinogram: normal rod responses and severely reduced cone responses; multifocal electroretinogram: non-recordable above nois" "" "" "" "" "" "" "" "" "oligocone trichromacy" "" ""
"0000291683" "04214" "00398564" "00000" "Familial, autosomal recessive" "15y" "visual acuity right/left eye: 0.94/0.92, fundus macular appearance: blunted foveal re���ex both eyes, color vision (anomaloscope): matched (47���73), electroretinography, scotopic: normal, single-���ash b-wave: severely reduced, 32-Hz flicker: non-detectable, spectral-domain optical coherence tomography: focal inner segment/outer segment junction of the photoreceptors disruption (small bubble) in the fovea, adaptive optics cone structure: Minimal cone inner segment structure, no visible outer" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291685" "04214" "00398566" "00000" "Familial, autosomal recessive" "50y" "visual acuity right/left eye: 0.78/0.8, fundus macular appearance: blunted foveal re���ex both eyes, color vision (anomaloscope): matched (48���73), electroretinography, scotopic: mildly reduced amplitude, single-���ash b-wave: severely reduced, 32-Hz flicker: non-detectable, spectral-domain optical coherence tomography: inner segment/outer segment junction of the photoreceptors loss and disruption (large bubble) in the fovea, adaptive optics cone structure: Minimal cone inner segment structure, no visible outer" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291687" "04214" "00398568" "00000" "Familial, autosomal recessive" "17y" "visual acuity right/left eye: 0.92/0.9, fundus macular appearance: normal, color vision (anomaloscope): matched (35���73), electroretinography, scotopic: normal, single-���ash b-wave: severely reduced, 32-Hz flicker: non-detectable, spectral-domain optical coherence tomography: normal inner segment/outer segment junction of the photoreceptors in the fovea, adaptive optics cone structure: Moderate cone inner segment structure, no visible outer segment r" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291690" "04214" "00398571" "00000" "Familial, autosomal recessive" "33y" "visual acuity right/left eye: 0.86/0.88, fundus macular appearance: blunted foveal re���ex both eyes, color vision (anomaloscope): matched (0���73), electroretinography, scotopic: normal, single-���ash b-wave: moderately reduced, 32-Hz flicker: non-detectable, spectral-domain optical coherence tomography: loss and disruption of inner segment/outer segment junction of the photoreceptors (large bubble) in the fovea, adaptive optics cone" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291692" "04214" "00398573" "00000" "Familial, autosomal recessive" "52y" "visual acuity right/left eye: 0.92/0.94, fundus macular appearance: atrophic macular lesion both eyes, color vision (anomaloscope): matched (10���73), electroretinography, scotopic: moderately reduced amplitude, single-���ash b-wave: severely reduced, 32-Hz flicker: non-detectable, spectral-domain optical coherence tomography: loss of inner segment/outer segment junction of the photoreceptors and retinal pigment epithelium loss and thinning in the fovea and foveal hypoplasia, adaptive optics cone structur" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291693" "04214" "00398574" "00000" "Familial, autosomal recessive" "14y" "visual acuity right/left eye: 0.92/0.9, fundus macular appearance: normal, color vision (anomaloscope): matched (41���73), electroretinography, scotopic: normal, single-���ash b-wave: severely reduced, 32-Hz flicker: non-detectable, spectral-domain optical coherence tomography: focal loss of inner segment/outer segment junction of the photoreceptors and foveal hypoplasia, adaptive optics cone structure: Substantial cone inner segment structure" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291694" "04214" "00398576" "00000" "Familial, autosomal recessive" "" "presented shortly after birth with nystagmus; fascinated by bright lights but performed poorly in a bright environment and appeared to see better in the dark; examination at 9 months of age revealed absence of fixation, and she could not recognize faces in the light; small-amplitude, rapid, pendular nystagmus; paradoxical pupillary response; anterior segment, ocular media, and fundus examination were normal; cycloplegic refraction was +8.00 dioptrically sphere in both eyes." "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291695" "04214" "00398577" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291704" "04214" "00398617" "00000" "Familial, autosomal recessive" "50y" "total color blindness; severe photophobia and nystagmus; discrete round-shaped macular chorioretinal atrophy" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291705" "04214" "00398618" "00000" "Familial, autosomal recessive" "" "total color blindness; severe photophobia and nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291706" "04214" "00398619" "00000" "Familial, autosomal recessive" "" "total color blindness; severe photophobia and nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291707" "04214" "00398620" "00000" "Familial, autosomal recessive" "" "total color blindness; severe photophobia and nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291708" "04214" "00398621" "00000" "Familial, autosomal recessive" "" "total color blindness; severe photophobia and nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291709" "04214" "00398622" "00000" "Familial, autosomal recessive" "" "total color blindness; severe photophobia and nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291710" "04214" "00398623" "00000" "Familial, autosomal recessive" "" "total color blindness; severe photophobia and nystagmus" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291712" "04214" "00398626" "00000" "Familial, autosomal recessive" "6y9m" "nystagmus; progression in follow-up of 11 months; best-corrected visual acuity: 0.6" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291713" "04214" "00398627" "00000" "Familial, autosomal recessive" "9y10m" "nystagmus; progression in follow-up of 17 months; best-corrected visual acuity: 0.6" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291714" "04214" "00398628" "00000" "Familial, autosomal recessive" "10y7m" "nystagmus; progression in follow-up of 16 months; best-corrected visual acuity: 1" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291716" "04214" "00398630" "00000" "Familial, autosomal recessive" "44y3m" "nystagmus; no progression in follow-up of 25 months; best-corrected visual acuity: 1.1" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291717" "04214" "00398631" "00000" "Familial, autosomal recessive" "46y1m" "nystagmus; no progression in follow-up of 13 months; best-corrected visual acuity: 1" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291721" "04214" "00398634" "00000" "Familial, autosomal recessive" "6y9m" "nystagmus; progression in follow-up of 11 months; best-corrected visual acuity: 0.6" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291722" "04214" "00398635" "00000" "Familial, autosomal recessive" "11y" "best corrected visual acuity: right eye, 20/200, left eye, 20/200, full-field photopic electroretinography right /left eye: a wave, b wave, flicker: nonrecordable/nonrecordable, nonrecordable/nonrecordable, nonrecordable/nonrecordable, optical coherence tomography: mild foveal atrophy without cavitation both eyes, fundus autofluorescence: normal" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291723" "04214" "00398636" "00000" "Familial, autosomal recessive" "23y" "best corrected visual acuity: right eye, 20/125, left eye, 20/125, full-field photopic electroretinography right /left eye: a wave, b wave, flicker:nonrecordable/nonrecordable, nonrecordable/nonrecordable, nonrecordable/nonrecordable, optical coherence tomography: mild foveal atrophy without cavitation both eyes, fundus autofluorescence: focal foveal hyperfluoresence" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291724" "04214" "00398637" "00000" "Familial, autosomal recessive" "7m" "best corrected visual acuity: right eye, fix and follow, left eye, fix and follow, full-field photopic electroretinography right /left eye: a wave, b wave, flicker:nonrecordable/nonrecordable, <3/<3, nonrecordable/nonrecordable, optical coherence tomography: none, fundus autofluorescence: foveal and parafoveal hyperfluorescence" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291725" "04214" "00398638" "00000" "Familial, autosomal recessive" "13y" "best corrected visual acuity: right eye, 20/400, left eye, 20/400, full-field photopic electroretinography right /left eye: a wave, b wave, flicker:nonrecordable/nonrecordable, 6.8/nonrecordable, <5/<5, optical coherence tomography: progressive foveal atrophy and cavitation both eyes, fundus autofluorescence: none" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291732" "04214" "00398649" "00000" "Familial, autosomal recessive" "56y" "photophobia, nystagmus, impaired color vision" "" "" "" "" "" "" "" "" "incomplete achromatopsia (atypical)" "" ""
"0000291735" "04214" "00398652" "00000" "Familial, autosomal recessive" "10m" "visual acuity left, right eye: fixes and follows, fixes and follows, retinoscopic refraction, spherical equivalent: +5.00, +3.50, fundus appearance: foveal pigment mottling, full-field electroretinography, scotopic/photopic: normal/nonrecordable, foveal hypoplasia, foveal ellipsoid zone: complete loss" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291736" "04214" "00398653" "00000" "Familial, autosomal recessive" "1y4m" "visual acuity left, right eye: fixes and follows, fixes and follows, retinoscopic refraction, spherical equivalent: +3.25, +3.00, fundus appearance: normal, full-field electroretinography, scotopic/photopic: mildly reduced/severely reduced and prolonged, no foveal hypoplasia, foveal ellipsoid zone: disrupted" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291739" "04214" "00398656" "00000" "Familial, autosomal recessive" "4y11m" "visual acuity left, right eye: 20/200, 20/200, retinoscopic refraction, spherical equivalent: +2.50, +1.25, fundus appearance: no foveal light reflex, full-field electroretinography, scotopic/photopic: normal/severely reduced and prolonged, no foveal hypoplasia, foveal ellipsoid zone: disrupted with hyporeflective zone" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291746" "04214" "00398663" "00000" "Familial, autosomal recessive" "10y" "photophobia, nystagmus, visual acuity: counting fingers (1meter), funduscopy: macular atrophy; color vision: severe, diffuse impairment; optical coherence tomography: foveal outer retinal and retinal pigment epithelium atrophy with transmission defect electroretinogram: photopic: severe dysfunction, scotopic: mild-to-moderate dysfunction" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000291747" "04214" "00398664" "00000" "Familial, autosomal recessive" "12y" "photophobia, nystagmus, alternating esotropia, visual acuity right-left eye: 6/60-6/60, macular atrophy severe, diffuse impairment foveal outer retinal and retinal pigment epithelium atrophy with transmission defect severe dysfunction moderate dysfunction" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000291748" "04214" "00398665" "00000" "Familial, autosomal recessive" "14y" "photophobia, nystagmus, alternating esotropia, visual acuity: counting fingers (1meter), funduscopy: macular atrophy; color vision: severe, diffuse impairment; optical coherence tomography: foveal outer retinal and retinal pigment epithelium atrophy with transmission defect, electroretinogram: photopic: moderate dysfunction, scotopic: moderate to severe dysfunction" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000291749" "04214" "00398666" "00000" "Familial, autosomal recessive" "17y" "photophobia, nystagmus, alternating esotropia, visual acuity: 3/60 3/60, funduscopy: macular atrophy; color vision: severe, diffuse impairment; optical coherence tomography: foveal full thickness retinal and retinal pigment epithelium atrophy with choroidal thinning, electroretinogram: photopic: moderate dysfunction, scotopic: oderate to severe dysfunction" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000291752" "04214" "00398670" "00000" "Familial, autosomal recessive" "25y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 178; dark adapted mixed rod-cone (average): a: 98/b: 240, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291753" "04214" "00398671" "00000" "Familial, autosomal recessive" "32y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 210; dark adapted mixed rod-cone (average): a: 115/b: 215, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291754" "04214" "00398672" "00000" "Familial, autosomal recessive" "24y" "visual acuity: 0.17, electroretinogram, dark adapted rod response (b, µV) 141; dark adapted mixed rod-cone (average): a: 157/b: 225, light adapted 30Hz cone flicker: not availabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291755" "04214" "00398673" "00000" "Familial, autosomal recessive" "6y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 83, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291756" "04214" "00398674" "00000" "Familial, autosomal recessive" "22y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 307; dark adapted mixed rod-cone (average): a: 192/b: 467, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291757" "04214" "00398675" "00000" "Familial, autosomal recessive" "52y" "visual acuity: 0.07, electroretinogram, dark adapted rod response (b, µV) 315; dark adapted mixed rod-cone (average): a: 157/b: 422, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291758" "04214" "00398676" "00000" "Familial, autosomal recessive" "21y" "visual acuity: finger counting 10cm, electroretinogram, dark adapted rod response (b, µV) 151; dark adapted mixed rod-cone (average): a: 175/b: 236, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291759" "04214" "00398677" "00000" "Familial, autosomal recessive" "14y" "visual acuity: finger counting 2m, electroretinogram, dark adapted rod response (b, µV) 121; dark adapted mixed rod-cone (average): a: 140/b: 206, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291760" "04214" "00398678" "00000" "Familial, autosomal recessive" "10y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) 145; dark adapted mixed rod-cone (average): a: 130/b: 460, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291761" "04214" "00398679" "00000" "Familial, autosomal recessive" "7y" "visual acuity: 0.75, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 178, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291762" "04214" "00398680" "00000" "Familial, autosomal recessive" "4y6m" "visual acuity: 0.4, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 195, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291763" "04214" "00398681" "00000" "Familial, autosomal recessive" "3y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 260, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291764" "04214" "00398682" "00000" "Familial, autosomal recessive" "1y4m" "visual acuity: FF, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 135, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291765" "04214" "00398683" "00000" "Familial, autosomal recessive" "9y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 195; dark adapted mixed rod-cone (average): a: 122/b: 312, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291766" "04214" "00398684" "00000" "Familial, autosomal recessive" "1y6m" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 265, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291767" "04214" "00398685" "00000" "Familial, autosomal recessive" "12y" "visual acuity: 0.07, electroretinogram, dark adapted rod response (b, µV) 282; dark adapted mixed rod-cone (average): a: 131/b: 382, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291768" "04214" "00398686" "00000" "Familial, autosomal recessive" "19y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 256; dark adapted mixed rod-cone (average): a:97/b: 287, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291769" "04214" "00398687" "00000" "Familial, autosomal recessive" "2y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 255, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291770" "04214" "00398688" "00000" "Familial, autosomal recessive" "1y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 200, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291771" "04214" "00398689" "00000" "Familial, autosomal recessive" "3y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 195, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291772" "04214" "00398690" "00000" "Familial, autosomal recessive" "1y2m" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 134, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291773" "04214" "00398691" "00000" "Familial, autosomal recessive" "1y6m" "visual acuity: finger counting (6), electroretinogram, dark adapted rod response (b, µV) 280; dark adapted mixed rod-cone (average): b: 286, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291774" "04214" "00398692" "00000" "Familial, autosomal recessive" "51y" "visual acuity: 0.13, electroretinogram, dark adapted rod response (b, µV) 94; dark adapted mixed rod-cone (average): a: 16/b: 121, light adapted 30Hz cone flicker: not availabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291775" "04214" "00398693" "00000" "Familial, autosomal recessive" "50y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 136; dark adapted mixed rod-cone (average): a: 123/b: 199, light adapted 30Hz cone flicker: not availabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291776" "04214" "00398694" "00000" "Familial, autosomal recessive" "34y" "visual acuity: 0.05, electroretinogram, dark adapted rod response (b, µV) 245; dark adapted mixed rod-cone (average): a: 123/b: 249, light adapted 30Hz cone flicker: RE:15 (43" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291777" "04214" "00398695" "00000" "Familial, autosomal recessive" "20y" "visual acuity: finger counting 10 cm, electroretinogram, dark adapted rod response (b, µV) 126; dark adapted mixed rod-cone (average): a: 50/b: 170, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291778" "04214" "00398696" "00000" "Familial, autosomal recessive" "14y" "visual acuity: 0.12, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291779" "04214" "00398697" "00000" "Familial, autosomal recessive" "11y" "visual acuity: 0.14, electroretinogram, dark adapted rod response (b, µV) 242; dark adapted mixed rod-cone (average): a: 175/b: 366, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291780" "04214" "00398698" "00000" "Familial, autosomal recessive" "7y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 340, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291781" "04214" "00398699" "00000" "Familial, autosomal recessive" "7y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 185, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291782" "04214" "00398700" "00000" "Familial, autosomal recessive" "1y6m" "visual acuity: fix-follow-maintain, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 277, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291783" "04214" "00398701" "00000" "Familial, autosomal recessive" "14y" "visual acuity: 0.08, electroretinogram, dark adapted rod response (b, µV) 239; dark adapted mixed rod-cone (average): a: 130/b: 380, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291784" "04214" "00398702" "00000" "Familial, autosomal recessive" "22y" "visual acuity: finger counting 1m, electroretinogram, dark adapted rod response (b, µV) 341; dark adapted mixed rod-cone (average): a: 159/b: 345, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291785" "04214" "00398703" "00000" "Familial, autosomal recessive" "1y9m" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): a: 29/b: 140, light adapted 30Hz cone flicker: not availabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291786" "04214" "00398704" "00000" "Familial, autosomal recessive" "" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: not availabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291787" "04214" "00398705" "00000" "Familial, autosomal recessive" "26y" "visual acuity: 0.15, electroretinogram, dark adapted rod response (b, µV) 68; dark adapted mixed rod-cone (average): a: 99/b: 127, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291788" "04214" "00398706" "00000" "Familial, autosomal recessive" "30y" "visual acuity: 0.01, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291789" "04214" "00398707" "00000" "Familial, autosomal recessive" "38y" "visual acuity: , electroretinogram, dark adapted rod response (b, µV) 166; dark adapted mixed rod-cone (average): a: 98/b: 310, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291790" "04214" "00398708" "00000" "Familial, autosomal recessive" "22y" "visual acuity: 0.17, electroretinogram, dark adapted rod response (b, µV) 148; dark adapted mixed rod-cone (average): a: 48/b: 224, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291791" "04214" "00398709" "00000" "Familial, autosomal recessive" "5y" "visual acuity: 0.17, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 201, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291792" "04214" "00398710" "00000" "Familial, autosomal recessive" "3y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): a: 69/b: 130, light adapted 30Hz cone flicker: not availabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291793" "04214" "00398711" "00000" "Familial, autosomal recessive" "" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: not availabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291794" "04214" "00398712" "00000" "Familial, autosomal recessive" "3y" "visual acuity: 0.05, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 121, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291795" "04214" "00398713" "00000" "Familial, autosomal recessive" "14y" "visual acuity: 0.12, electroretinogram, dark adapted rod response (b, µV) 357; dark adapted mixed rod-cone (average): a: 161/b: 376, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291796" "04214" "00398714" "00000" "Familial, autosomal recessive" "2y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 238, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291797" "04214" "00398715" "00000" "Familial, autosomal recessive" "1y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 284, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291798" "04214" "00398716" "00000" "Familial, autosomal recessive" "" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: not availabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291799" "04214" "00398717" "00000" "Familial, autosomal recessive" "28y" "visual acuity: 0.17, electroretinogram, dark adapted rod response (b, µV) 278; dark adapted mixed rod-cone (average): a: 114/b: 460, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291800" "04214" "00398718" "00000" "Familial, autosomal recessive" "1y" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 125, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291801" "04214" "00398719" "00000" "Familial, autosomal recessive" "1y8m" "visual acuity: fix-follow-maintain, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 166, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291802" "04214" "00398720" "00000" "Familial, autosomal recessive" "1y8m" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 203, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291803" "04214" "00398721" "00000" "Familial, autosomal recessive" "10m" "visual acuity: light perception, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 245, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291804" "04214" "00398722" "00000" "Familial, autosomal recessive" "43y" "visual acuity: 0.17, electroretinogram, dark adapted rod response (b, µV) 127; dark adapted mixed rod-cone (average): a: 99/b: 274, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291805" "04214" "00398723" "00000" "Familial, autosomal recessive" "1y10m" "visual acuity: fix-follow-maintain, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 243, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291806" "04214" "00398724" "00000" "Familial, autosomal recessive" "1y5m" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291807" "04214" "00398725" "00000" "Familial, autosomal recessive" "6m" "visual acuity: fix-follow-maintain, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): b: 186, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291808" "04214" "00398726" "00000" "Familial, autosomal recessive" "6m" "visual acuity: fix-follow-maintain, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291809" "04214" "00398727" "00000" "Familial, autosomal recessive" "6m" "visual acuity: fix-follow-maintain, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291810" "04214" "00398728" "00000" "Familial, autosomal recessive" "10m" "visual acuity: not available, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: not availabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291811" "04214" "00398729" "00000" "Familial, autosomal recessive" "9y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 200; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291812" "04214" "00398730" "00000" "Familial, autosomal recessive" "12y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 300; dark adapted mixed rod-cone (average): a:225/b:400, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291813" "04214" "00398731" "00000" "Familial, autosomal recessive" "13y" "visual acuity: 0.13, electroretinogram, dark adapted rod response (b, µV) not available; dark adapted mixed rod-cone (average): not available, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291814" "04214" "00398732" "00000" "Familial, autosomal recessive" "18y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 340; dark adapted mixed rod-cone (average): a:220/b:430, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291815" "04214" "00398733" "00000" "Familial, autosomal recessive" "21y" "visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 292; dark adapted mixed rod-cone (average): a:188/b:320, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291816" "04214" "00398734" "00000" "Familial, autosomal recessive" "28y" "visual acuity: 0.2, electroretinogram, dark adapted rod response (b, µV) 225; dark adapted mixed rod-cone (average): a:220/b:300, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291817" "04214" "00398735" "00000" "Familial, autosomal recessive" "41y" "visual acuity: 0.16, electroretinogram, dark adapted rod response (b, µV) 180; dark adapted mixed rod-cone (average): a:168/b:332, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291818" "04214" "00398736" "00000" "Familial, autosomal recessive" "50y" "visual acuity: 0.2, electroretinogram, dark adapted rod response (b, µV) 182; dark adapted mixed rod-cone (average): a:188/b:300, light adapted 30Hz cone flicker: nondetectabl" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291822" "04214" "00398740" "00000" "Familial, autosomal recessive" "30y" "visual acuity; refraction right/left eye: 0.1/0.1; -2.75/-3.50 , electroretinogram: nonrecordable, color vision: absent" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291823" "04214" "00398741" "00000" "Familial, autosomal recessive" "6y" "visual acuity; refraction right/left eye: 0.08/0.08; +7.00/+6.25 , electroretinogram: nonrecordable, color vision: absent" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291824" "04214" "00398742" "00000" "Familial, autosomal recessive" "8y" "visual acuity; refraction right/left eye: 0.1/0.1; not done , electroretinogram: nonrecordable, color vision: absent" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291825" "04214" "00398743" "00000" "Familial, autosomal recessive" "18y" "visual acuity; refraction right/left eye: 0.1/0.1; -3.25/-2.25 , electroretinogram: nonrecordable, color vision: absent" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291826" "04214" "00398744" "00000" "Familial, autosomal recessive" "5y" "visual acuity; refraction right/left eye: 0.1/0.1; +6.25/+4.75 , electroretinogram: nonrecordable, color vision: absent" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291827" "04214" "00398745" "00000" "Familial, autosomal recessive" "2y" "visual acuity; refraction right/left eye: 0.2/0.2; +3.00/+3.00 , electroretinogram: not done, color vision: absent" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291828" "04214" "00398746" "00000" "Familial, autosomal recessive" "22y" "visual acuity; refraction right/left eye: 0.1/0.1; +3.00/+3.00 , electroretinogram: nonrecordable, color vision: absent" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291829" "04214" "00398747" "00000" "Familial, autosomal recessive" "5y" "visual acuity; refraction right/left eye: 0.1/0.1; not done , electroretinogram: nonrecordable, color vision: absent" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000291830" "04214" "00398748" "00000" "Familial, autosomal recessive" "6y" "nystagmus, photophobia, poor vision, best corrected visual acuity right/left eye: 0.05/0.05, fundi appearance: poor foveal reflex" "2m" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291831" "04214" "00398749" "00000" "Familial, autosomal recessive" "29y" "nystagmus, photophobia, poor vision, best corrected visual acuity right/left eye: 0.12/0.12, fundi appearance: temporal disc pallor, electroretinogram: severely reduced in cones, normal in rods" "<7y" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291832" "04214" "00398750" "00000" "Familial, autosomal recessive" "2y6m" "nystagmus, photophobia, hyperopia since early infancy" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291833" "04214" "00398751" "00000" "Familial, autosomal recessive" "22y" "nystagmus, photophobia, best-corrected visual acuity: 0.09; refraction: +6.5 diopters sphere, -3.25 D cylinder axis 170deg right eye, +6.5 sphere -3.5 cylinder axis 180deg left eye The scotopic dim (rod) and bright flash electroretinograms were normal and the photopic (cone) and flicker ERGs were non-recordable" "" "8y" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291840" "04214" "00398756" "00000" "Familial, autosomal recessive" "21y" "marked photophobia and congenital nystagmus; best corrected visual acuity: light perception at 21y; visual fields bilaterally constricted to the 10 at stimulus V4e; funduscopy: beaten-bronze appearance of retinal periphery with fine white dots and pigment migration associated with marked macular atrophic changes; fundus autofluorescence: patchy loss of autofluorescence in the periphery and macula; spectral domain optical coherence tomography: preserved but thinned outer nuclear layer centrally associated with a loss of the outer retinal hyper reflective bands replaced by hyper reflective material above the retinal pigment epithelium/Bruch\'s complex; renal abnormalities with high blood pressure, hematuria and nephrotic-range proteinuria with a renal biopsy not compatible with nephronophthisis" "" "" "" "" "" "" "" "" "RP93" "early-onset cone-rod dystrophy" ""
"0000291841" "04214" "00398757" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity: 20/32; high myopia; kinetic visual field was moderately reduced to 110 deg at the III4e stimulus; full-field electroretinogram: non-recordable; funduscopy: tilted disc, narrowed retinal vessels, very few pigment migrations in retinal periphery and well preserved fovea; fundus autofluorescence: sparse loss of autofluorescence in the per; iphery with a perifoveal ring of increased autofluorescence; spectral domain optical coherence tomography: (vertical scans) relative preservation of the outer retinal hyper reflective bands and the outer nuclear layers centrally; renal function and brain structure: normal" "" "19y" "" "" "" "" "" "" "RP93" "retinitis pigmentosa" ""
"0000291842" "04214" "00398758" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity: 20/32; high myopia; kinetic visual field was moderately reduced to 160 deg at the III4e stimulus; full-field electroretinogram: non-recordable; funduscopy: tilted disc, narrowed retinal vessels, very few pigment migrations in retinal periphery and well preserved fovea; fundus autofluorescence: sparse loss of autofluorescence in the periphery with a perifoveal ring of increased autofluorescence; spectral domain optical coherence tomography: (vertical scans) relative preservation of the outer retinal hyper reflective bands and the outer nuclear layers centrally; normal cerebral magnetic resonance imaging, normal blood pressure, preserved glomerular filtration rate; hematuria and subnormal nephrotic-range proteinuria" "" "25y" "" "" "" "" "" "" "RP93" "retinitis pigmentosa" ""
"0000291843" "04214" "00398759" "00000" "Familial, autosomal recessive" "39y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291844" "04214" "00398760" "00000" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291845" "04214" "00398761" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291846" "04214" "00398762" "00000" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291847" "04214" "00398763" "00000" "Familial, autosomal recessive" "33y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291848" "04214" "00398764" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291849" "04214" "00398765" "00000" "Familial, autosomal recessive" "40y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291850" "04214" "00398766" "00000" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291861" "04214" "00398777" "00000" "Familial, autosomal recessive" "32y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291862" "04214" "00398778" "00000" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291863" "04214" "00398779" "00000" "Familial, autosomal recessive" "20y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291864" "04214" "00398780" "00000" "Familial, autosomal recessive" "46y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291865" "04214" "00398781" "00000" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291866" "04214" "00398782" "00000" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291867" "04214" "00398783" "00000" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291868" "04214" "00398784" "00000" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291869" "04214" "00398785" "00000" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291870" "04214" "00398786" "00000" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291871" "04214" "00398787" "00000" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291872" "04214" "00398788" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291873" "04214" "00398789" "00000" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291874" "04214" "00398790" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291875" "04214" "00398791" "00000" "Familial, autosomal recessive" "14y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291876" "04214" "00398792" "00000" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291877" "04214" "00398793" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291878" "04214" "00398794" "00000" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291879" "04214" "00398795" "00000" "Familial, autosomal recessive" "49y" "photophobia since birth; visual acuity at 18y 20/200, refraction: +3.00 (bothe eyes); fine pendular nystagmus more pronounced when looking at distant targets; Full-field electroretinogram: symmetrical severely reduced cone responses and abnormalities in the rod responses; dark adaptation curves, color vision testing using a Panel D-15 test and a Nagel anomaloscope: findings typical for ACHM; the rest of tests were normal" "" "10y" "" "calcium influx not detectable in the aequorin-based bioassay" "" "" "" "" "Achromatopsia" "" ""
"0000291880" "04214" "00398796" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291881" "04214" "00398797" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291882" "04214" "00398798" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291883" "04214" "00398799" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291884" "04214" "00398800" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291885" "04214" "00398801" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291886" "04214" "00398802" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291887" "04214" "00398803" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291888" "04214" "00398804" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291889" "04214" "00398805" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000291890" "04214" "00398806" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" ""
"0000307541" "04214" "00415763" "00000" "Familial, autosomal recessive" "1y" "refraction/astigmatism: +3.0; best corrected visual acuity: 1/10; nystagmus; fundus: macula grey" "" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000307542" "04214" "00415764" "00000" "Familial, autosomal recessive" "28y" "refraction/astigmatism: +3.5; best corrected visual acuity: 0.1; nystagmus; fundus: macula grey; progression: subjective" "" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000307543" "04214" "00415765" "00000" "Familial, autosomal recessive" "32y" "refraction/astigmatism: +7.0; best corrected visual acuity: 1/35; nystagmus; fundus: vessels narrow; progression: visual acuity, visual field" "" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000307544" "04214" "00415766" "00000" "Familial, autosomal recessive" "14y" "refraction/astigmatism: -4.0/-4.0; best corrected visual acuity: 0.05; nystagmus; fundus: bull\'s eye maculopathy" "" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000310977" "04214" "00419697" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000310978" "04214" "00419698" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000310979" "04214" "00419699" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000310980" "04214" "00419700" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000311016" "04214" "00419736" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 2/60, 2/60; refraction right, left eye: -2.25/-2.75*44, -4.00/-2.25*126; fundus: abnormal; photophobia: yes; nystagmus: yes; lack of color discrimination since childhood; intense uneasiness during daylight with normal night vision; small atrophic macular lesions, myopic appearing fundus with retinal thinning, mild myopic astigmatism, and bilateral peripapillary atrophy; electroretinogram photopic responses: severely reduced" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311017" "04214" "00419737" "00000" "Familial, autosomal recessive" "30y" "best corrected visual acuity right, left eye: 6/60, 6/36; refraction right, left eye: -3.75/-2.25*10, -1.50/-2.25*1; fundus: abnormal; photophobia: yes; nystagmus: yes; lack of color discrimination since childhood; intense uneasiness during daylight with normal night vision; relatively normal appearing fundus with mild myopic astigmatism; electroretinogram photopic responses: severely reduced" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311018" "04214" "00419738" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311019" "04214" "00419739" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311020" "04214" "00419740" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311021" "04214" "00419741" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity right, left eye: 2/60, 2/60; refraction right, left eye: -9.00*149, -3.25; fundus: abnormal; photophobia: data not available; nystagmus: data not available; yopic appearing fundus with retinal thinning and peripapillary optic atrophy was observed in affected IV:9; ptical coherence tomography: retinal thinning throughout the retina particularly of the outer nuclear layer and otherwise normal appearing foveal architecture, disruption of inner/outer segment junctional complex with retinal pigment epithelium thinning may indicate diffuse chorioretinal atrophy; axial scan of right eye: intact posterior capsule region, transverse and longitudinal scan, right eye: multiple low intensity echoes in vitreous cavity, while retina was in situ; choroid, optic nerve head, extra-ocular muscles and retroocular fat: normal" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311022" "04214" "00419742" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity right, left eye: 6/36, 6/36; refraction right, left eye: +0.25/-0.75*105, +1.50; fundus: abnormal; photophobia: data not available; nystagmus: data not available; funduscopy: bilateral symmetric optic disc pallor; mild visual acuity loss and minimal refractive error; bilateral atrophic macular lesions 1–1.5-disc diameters on fundus examination, with normal optic nerve, vessels, and anterior segment; optical coherence tomography: consistent with outer segment thinning, inner retinal layer remodeling, and retinal pigment epithelium loss at the fovea and perifovea, and mild retinal thinning with otherwise normal architecture in the perimacular region; electroretinogram photopic responses: reduced in the two evaluated affected individuals; no color visi" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311023" "04214" "00419743" "00000" "Familial, autosomal recessive" "21y" "best corrected visual acuity right, left eye: 6/36, 6/36; refraction right, left eye: +0.25/-2.75*175, -2.50/-2.75*160; fundus: abnormal; photophobia: data not available; nystagmus: data not available; funduscopy: bilateral symmetric optic disc pallor; mild visual acuity loss and minimal refractive error; bilateral atrophic macular lesions 1–1.5-disc diameters on fundus examination, with normal optic nerve, vessels, and anterior segment; optical coherence tomography: consistent with outer segment thinning, inner retinal layer remodeling, and retinal pigment epithelium loss at the fovea and perifovea, and mild retinal thinning with otherwise normal architecture in the perimacular region; electroretinogram photopic responses: reduced in the two evaluated affected individuals; no color visi" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311024" "04214" "00419744" "00000" "Familial, autosomal recessive" "22y" "best corrected visual acuity right, left eye: 6/36, 6/36; refraction right, left eye: -0.75/0.75*100, -0.25/-1*65; fundus: abnormal; photophobia: data not available; nystagmus: data not available; funduscopy: bilateral symmetric optic disc pallor; mild visual acuity loss and minimal refractive error; bilateral atrophic macular lesions 1–1.5-disc diameters on fundus examination, with normal optic nerve, vessels, and anterior segment; optical coherence tomography: consistent with outer segment thinning, inner retinal layer remodeling, and retinal pigment epithelium loss at the fovea and perifovea, and mild retinal thinning with otherwise normal architecture in the perimacular region; electroretinogram photopic responses: reduced in the two evaluated affected individuals; no color visi" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311329" "04214" "00420093" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311330" "04214" "00420094" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311331" "04214" "00420095" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311332" "04214" "00420096" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311333" "04214" "00420097" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311334" "04214" "00420098" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311335" "04214" "00420099" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311336" "04214" "00420100" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311337" "04214" "00420101" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311338" "04214" "00420102" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311339" "04214" "00420103" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311340" "04214" "00420104" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311341" "04214" "00420105" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311342" "04214" "00420106" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311343" "04214" "00420107" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311344" "04214" "00420108" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311345" "04214" "00420109" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311346" "04214" "00420110" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311347" "04214" "00420111" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311348" "04214" "00420112" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311349" "04214" "00420113" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311350" "04214" "00420114" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311351" "04214" "00420115" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311352" "04214" "00420116" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311353" "04214" "00420117" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311354" "04214" "00420118" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311355" "04214" "00420119" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311356" "04214" "00420120" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311357" "04214" "00420121" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311358" "04214" "00420122" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311359" "04214" "00420123" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311360" "04214" "00420124" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311361" "04214" "00420125" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311362" "04214" "00420126" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311363" "04214" "00420127" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311364" "04214" "00420128" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311365" "04214" "00420129" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311366" "04214" "00420130" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311367" "04214" "00420131" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311368" "04214" "00420132" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311369" "04214" "00420133" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311370" "04214" "00420134" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311371" "04214" "00420135" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311372" "04214" "00420136" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311373" "04214" "00420137" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311374" "04214" "00420138" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311375" "04214" "00420139" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311376" "04214" "00420140" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311377" "04214" "00420141" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311378" "04214" "00420142" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311379" "04214" "00420143" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311380" "04214" "00420144" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311381" "04214" "00420145" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311382" "04214" "00420146" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311383" "04214" "00420147" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311384" "04214" "00420148" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311385" "04214" "00420149" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311386" "04214" "00420150" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311387" "04214" "00420151" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311388" "04214" "00420152" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311389" "04214" "00420153" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311390" "04214" "00420154" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311391" "04214" "00420155" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311392" "04214" "00420156" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311393" "04214" "00420157" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311394" "04214" "00420158" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311395" "04214" "00420159" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311396" "04214" "00420160" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311397" "04214" "00420161" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311398" "04214" "00420162" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311399" "04214" "00420163" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311400" "04214" "00420164" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311401" "04214" "00420165" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311402" "04214" "00420166" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311403" "04214" "00420167" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311404" "04214" "00420168" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311405" "04214" "00420169" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311406" "04214" "00420170" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311407" "04214" "00420171" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311408" "04214" "00420172" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311409" "04214" "00420173" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311410" "04214" "00420174" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311411" "04214" "00420175" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311412" "04214" "00420176" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311413" "04214" "00420177" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311414" "04214" "00420178" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311415" "04214" "00420179" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311416" "04214" "00420180" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311417" "04214" "00420181" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311418" "04214" "00420182" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311419" "04214" "00420183" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311420" "04214" "00420184" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311421" "04214" "00420185" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311422" "04214" "00420186" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311423" "04214" "00420187" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311424" "04214" "00420188" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311425" "04214" "00420189" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311426" "04214" "00420190" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311427" "04214" "00420191" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311428" "04214" "00420192" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311429" "04214" "00420193" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311430" "04214" "00420194" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311431" "04214" "00420195" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311432" "04214" "00420196" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311433" "04214" "00420197" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311434" "04214" "00420198" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311435" "04214" "00420199" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311436" "04214" "00420200" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311437" "04214" "00420201" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311438" "04214" "00420202" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311439" "04214" "00420203" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311440" "04214" "00420204" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311441" "04214" "00420205" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311442" "04214" "00420206" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311443" "04214" "00420207" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311444" "04214" "00420208" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311445" "04214" "00420209" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311446" "04214" "00420210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311447" "04214" "00420211" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311448" "04214" "00420212" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311449" "04214" "00420213" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311450" "04214" "00420214" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311451" "04214" "00420215" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311452" "04214" "00420216" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311453" "04214" "00420217" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311454" "04214" "00420218" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311455" "04214" "00420219" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311456" "04214" "00420220" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311457" "04214" "00420221" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311458" "04214" "00420222" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311459" "04214" "00420223" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311460" "04214" "00420224" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311461" "04214" "00420225" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311462" "04214" "00420226" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311463" "04214" "00420227" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311464" "04214" "00420228" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311465" "04214" "00420229" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311466" "04214" "00420230" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311467" "04214" "00420231" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311468" "04214" "00420232" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311469" "04214" "00420233" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311470" "04214" "00420234" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311471" "04214" "00420235" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311472" "04214" "00420236" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311473" "04214" "00420237" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311474" "04214" "00420238" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311475" "04214" "00420239" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311476" "04214" "00420240" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311477" "04214" "00420241" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311478" "04214" "00420242" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311479" "04214" "00420243" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311480" "04214" "00420244" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311481" "04214" "00420245" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311482" "04214" "00420246" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311483" "04214" "00420247" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311484" "04214" "00420248" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311485" "04214" "00420249" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311486" "04214" "00420250" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311487" "04214" "00420251" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311488" "04214" "00420252" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311489" "04214" "00420253" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311490" "04214" "00420254" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311491" "04214" "00420255" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311492" "04214" "00420256" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311493" "04214" "00420257" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311494" "04214" "00420258" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311495" "04214" "00420259" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311496" "04214" "00420260" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311497" "04214" "00420261" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311498" "04214" "00420262" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311499" "04214" "00420263" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311500" "04214" "00420264" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311501" "04214" "00420265" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311502" "04214" "00420266" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311503" "04214" "00420267" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311504" "04214" "00420268" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311505" "04214" "00420269" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311506" "04214" "00420270" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311507" "04214" "00420271" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311508" "04214" "00420272" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311509" "04214" "00420273" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311510" "04214" "00420274" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311511" "04214" "00420275" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311512" "04214" "00420276" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311513" "04214" "00420277" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311514" "04214" "00420278" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311515" "04214" "00420279" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311516" "04214" "00420280" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311517" "04214" "00420281" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311518" "04214" "00420282" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311519" "04214" "00420283" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311520" "04214" "00420284" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311521" "04214" "00420285" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311522" "04214" "00420286" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311523" "04214" "00420287" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311524" "04214" "00420288" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311525" "04214" "00420289" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311526" "04214" "00420290" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311527" "04214" "00420291" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311528" "04214" "00420292" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311529" "04214" "00420293" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311530" "04214" "00420294" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311531" "04214" "00420295" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311532" "04214" "00420296" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311533" "04214" "00420297" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311534" "04214" "00420298" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311535" "04214" "00420299" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311536" "04214" "00420300" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311537" "04214" "00420301" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311538" "04214" "00420302" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311539" "04214" "00420303" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311540" "04214" "00420304" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311541" "04214" "00420305" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311542" "04214" "00420306" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311543" "04214" "00420307" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311544" "04214" "00420308" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311545" "04214" "00420309" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311546" "04214" "00420310" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311547" "04214" "00420311" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311548" "04214" "00420312" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000311549" "04214" "00420313" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" ""
"0000318040" "04214" "00426902" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "cone dystrophy" ""
"0000318045" "04214" "00426907" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "cone dystrophy" ""
"0000318046" "04214" "00426908" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "cone dystrophy" ""
"0000326741" "02156" "00436592" "04552" "Familial, autosomal recessive" "01y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551" "01y" "12y" "1y" "" "" "" "" "" "# 608051" "Retinal dystrophy" ""
"0000333507" "04214" "00444254" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336107" "00198" "00446908" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336111" "00198" "00446912" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336112" "00198" "00446913" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336114" "00198" "00446915" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336118" "00198" "00446919" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336119" "00198" "00446920" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336120" "00198" "00446921" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336121" "00198" "00446922" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336122" "00198" "00446923" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336249" "00198" "00447050" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336681" "00198" "00447482" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336726" "00198" "00447527" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336892" "00198" "00447693" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000339838" "04249" "00450783" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339839" "04249" "00450784" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339840" "04249" "00450785" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339841" "04249" "00450786" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339842" "04249" "00450787" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339843" "04249" "00450788" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "North Carolina macular dystrophy" ""
"0000339844" "04249" "00450789" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339845" "04249" "00450790" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339846" "04249" "00450791" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000340250" "00198" "00451575" "04543" "Familial, autosomal recessive" "15y" "night vision; day vision 20/80; no color vision; no nystagmus; no corneal haze; photophobia" "6m" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000340251" "00198" "00451576" "04543" "Familial, autosomal recessive" "26y" "night vision; day vision 20/120; no color vision; no nystagmus; no corneal haze; photophobia" "6m" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000340252" "00198" "00451577" "04543" "Familial, autosomal recessive" "11y" "night vision; day vision 20/60; no color vision; no nystagmus; no corneal haze; photophobia" "<10m" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000340253" "00198" "00451578" "04543" "Familial, autosomal recessive" "10y" "night vision; day vision 20/60; no color vision; no nystagmus; no corneal haze; photophobia" "6m" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000340254" "00198" "00451579" "04543" "Familial, autosomal recessive" "20y" "night vision; day vision 20/100; no color vision; no nystagmus; no corneal haze; photophobia" "<1y" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000340255" "00198" "00451580" "04543" "Familial, autosomal recessive" "31y" "night vision; day vision 20/120; no color vision; no nystagmus; no corneal haze; photophobia" "<1y" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000340256" "00198" "00451581" "04543" "Familial, autosomal recessive" "18y" "night vision; day vision 20/80; no color vision; no nystagmus; no corneal haze; photophobia" "<1y" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000340257" "00198" "00451582" "04543" "Familial, autosomal recessive" "9y" "night vision; day vision 20/40; no color vision; no nystagmus; no corneal haze; photophobia" "<1y" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343391" "02016" "00454772" "04752" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000343528" "04230" "00454931" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343529" "04230" "00454932" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343530" "04230" "00454933" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343531" "04230" "00454934" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343532" "04230" "00454935" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343533" "04230" "00454936" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343534" "04230" "00454937" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343535" "04230" "00454938" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343536" "04230" "00454939" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343537" "04230" "00454940" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343538" "04230" "00454941" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343539" "04230" "00454942" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343540" "04230" "00454943" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343541" "04230" "00454944" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM2" "achromatopsia" ""
"0000343542" "04230" "00454945" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACHM3" "achromatopsia" ""
"0000348631" "04214" "00461131" "00006" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "retinal disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 965
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000414" "00000390" "1" "00015" "00015" "2013-03-11 14:20:59" "00015" "2013-03-14 14:51:12" "PCR;SEQ" "DNA" "" ""
"0000019827" "00019837" "1" "00705" "00705" "2014-09-01 13:55:59" "" "" "SEQ" "DNA" "" ""
"0000034588" "00034517" "1" "00006" "00006" "2015-03-22 20:47:19" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000034591" "00034520" "1" "01264" "01264" "2014-04-30 15:00:37" "00006" "2014-05-01 09:26:51" "SEQ" "DNA" "" ""
"0000100475" "00100072" "1" "01769" "01769" "2017-01-30 15:38:48" "" "" "SEQ" "DNA" "WBC" ""
"0000105471" "00104998" "1" "01244" "01244" "2017-06-14 16:27:47" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000145017" "00144158" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000156285" "00155420" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156286" "00155421" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156287" "00155422" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156288" "00155423" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156289" "00155424" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156290" "00155425" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156291" "00155426" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156292" "00155427" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156293" "00155428" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156294" "00155429" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156295" "00155430" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156296" "00155431" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156297" "00155432" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156298" "00155433" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156299" "00155434" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156300" "00155435" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156301" "00155436" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156302" "00155437" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156303" "00155438" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000235512" "00234409" "1" "01807" "01807" "2019-05-17 09:46:50" "" "" "SEQ" "DNA" "" ""
"0000261886" "00260781" "1" "01807" "01807" "2019-08-07 10:15:04" "" "" "SEQ" "DNA" "" ""
"0000294024" "00292856" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294025" "00292857" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294026" "00292858" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294027" "00292859" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294028" "00292860" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294029" "00292861" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296566" "00295398" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305969" "00304840" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000307905" "00306770" "1" "01164" "01164" "2020-07-20 10:28:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000309640" "00308495" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309641" "00308496" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309642" "00308497" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309643" "00308498" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309752" "00308607" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309753" "00308608" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309809" "00308664" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000310209" "00309064" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310210" "00309065" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310211" "00309066" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310212" "00309067" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310213" "00309068" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310214" "00309069" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310215" "00309070" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310216" "00309071" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310217" "00309072" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310218" "00309073" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310219" "00309074" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310220" "00309075" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310221" "00309076" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310222" "00309077" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310223" "00309078" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310224" "00309079" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310225" "00309080" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310226" "00309081" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310227" "00309082" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310228" "00309083" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310229" "00309084" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310230" "00309085" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310231" "00309086" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310232" "00309087" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310233" "00309088" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000321006" "00319825" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" ""
"0000321007" "00319826" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" ""
"0000321008" "00319827" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" ""
"0000321009" "00319828" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" ""
"0000321229" "00320045" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321230" "00320046" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321231" "00320047" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321233" "00320049" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321234" "00320050" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321235" "00320051" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321236" "00320052" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321237" "00320053" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321240" "00320056" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321243" "00320059" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000321246" "00320062" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "SEQ" "DNA" "Blood" ""
"0000325439" "00324249" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325440" "00324250" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325442" "00324252" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325443" "00324253" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325444" "00324254" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325447" "00324257" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325450" "00324260" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325451" "00324261" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325455" "00324265" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325457" "00324267" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325460" "00324270" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000325466" "00324276" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SEQ" "DNA" "" ""
"0000329199" "00327984" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329378" "00328163" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329664" "00328449" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329665" "00328450" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329703" "00328488" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329716" "00328501" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000332931" "00331712" "1" "00000" "00006" "2021-02-12 17:18:57" "" "" "SEQ" "DNA" "" ""
"0000332932" "00331713" "1" "00000" "00006" "2021-02-12 17:18:57" "" "" "SEQ" "DNA" "" ""
"0000332933" "00331714" "1" "00000" "00006" "2021-02-12 17:18:57" "" "" "SEQ" "DNA" "" ""
"0000332934" "00331715" "1" "00000" "00006" "2021-02-12 17:18:57" "" "" "SEQ" "DNA" "" ""
"0000332935" "00331716" "1" "00000" "00006" "2021-02-12 17:18:57" "" "" "SEQ" "DNA" "" ""
"0000332936" "00331717" "1" "00000" "00006" "2021-02-12 17:18:57" "" "" "SEQ" "DNA" "" ""
"0000332937" "00331718" "1" "00000" "00006" "2021-02-12 17:18:57" "" "" "SEQ" "DNA" "" ""
"0000332938" "00331719" "1" "00000" "00006" "2021-02-12 17:18:57" "" "" "SEQ" "DNA" "" ""
"0000333627" "00332403" "1" "00000" "00006" "2021-02-18 13:23:10" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000333685" "00332461" "1" "00000" "00006" "2021-02-19 15:15:03" "" "" "SEQ-NG" "DNA" "" "150-gene panel"
"0000333694" "00332470" "1" "00000" "00006" "2021-02-19 15:15:03" "" "" "SEQ-NG" "DNA" "" "150-gene panel"
"0000334580" "00333355" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000334587" "00333362" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000334611" "00333386" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000335208" "00333982" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335209" "00333983" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335210" "00333984" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000336331" "00335102" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336332" "00335103" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336333" "00335104" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336453" "00335224" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel"
"0000359956" "00358726" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000359957" "00358727" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000360188" "00358951" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360201" "00358964" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360245" "00359007" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360250" "00359012" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360251" "00359013" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360259" "00359021" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360279" "00359041" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360417" "00359179" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000363317" "00362088" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363318" "00362089" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363319" "00362090" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363320" "00362091" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363321" "00362092" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363322" "00362093" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363323" "00362094" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363324" "00362095" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363325" "00362096" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363326" "00362097" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363327" "00362098" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363328" "00362099" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363329" "00362100" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363330" "00362101" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363331" "00362102" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363332" "00362103" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363333" "00362104" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363334" "00362105" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363335" "00362106" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363336" "00362107" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363337" "00362108" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363338" "00362109" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363339" "00362110" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363340" "00362111" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363341" "00362112" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363342" "00362113" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363343" "00362114" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363344" "00362115" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363345" "00362116" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363346" "00362117" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363347" "00362118" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363348" "00362119" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363349" "00362120" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363350" "00362121" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363351" "00362122" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363352" "00362123" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363353" "00362124" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363354" "00362125" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363355" "00362126" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363356" "00362127" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363357" "00362128" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363358" "00362129" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363359" "00362130" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363360" "00362131" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363361" "00362132" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363362" "00362133" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000363363" "00362134" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363364" "00362135" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363365" "00362136" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363366" "00362137" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363367" "00362138" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363368" "00362139" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363369" "00362140" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363444" "00362215" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" ""
"0000364900" "00363672" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364916" "00363688" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364928" "00363700" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364951" "00363723" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364960" "00363732" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000374575" "00373340" "1" "00006" "00006" "2021-05-13 19:58:09" "" "" "arraySNP;SEQ" "DNA" "" ""
"0000374576" "00373341" "1" "00006" "00006" "2021-05-13 20:01:02" "" "" "arraySNP;SEQ" "DNA" "" ""
"0000376177" "00374983" "1" "00006" "00006" "2021-05-27 18:16:33" "" "" "SEQ" "DNA" "" ""
"0000376184" "00374990" "1" "00000" "00006" "2021-05-27 19:02:46" "" "" "SEQ" "DNA" "" ""
"0000376185" "00374991" "1" "00000" "00006" "2021-05-27 19:02:46" "" "" "SEQ" "DNA" "" ""
"0000376186" "00374992" "1" "00000" "00006" "2021-05-27 19:02:46" "" "" "SEQ" "DNA" "" ""
"0000376187" "00374993" "1" "00000" "00006" "2021-05-27 19:02:46" "" "" "SEQ" "DNA" "" ""
"0000376554" "00375357" "1" "00000" "00006" "2021-06-03 09:13:38" "" "" "SEQ" "DNA" "" ""
"0000376557" "00375360" "1" "00000" "00006" "2021-06-03 09:13:38" "" "" "SEQ" "DNA" "" ""
"0000376558" "00375361" "1" "00000" "00006" "2021-06-03 09:13:38" "" "" "SEQ" "DNA" "" ""
"0000376559" "00375362" "1" "00000" "00006" "2021-06-03 09:13:38" "" "" "SEQ" "DNA" "" ""
"0000376560" "00375363" "1" "00000" "00006" "2021-06-03 09:13:38" "" "" "SEQ" "DNA" "" ""
"0000376563" "00375366" "1" "00000" "00006" "2021-06-03 09:13:38" "" "" "SEQ" "DNA" "" ""
"0000376564" "00375367" "1" "00000" "00006" "2021-06-03 09:13:38" "" "" "SEQ" "DNA" "" ""
"0000378214" "00377009" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378217" "00377012" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378218" "00377013" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378219" "00377014" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378220" "00377015" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378229" "00377024" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378230" "00377025" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378231" "00377026" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378232" "00377027" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378233" "00377028" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "blood" ""
"0000378386" "00377181" "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"
"0000378402" "00377197" "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"
"0000378403" "00377198" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000378421" "00377216" "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"
"0000378429" "00377224" "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"
"0000378450" "00377245" "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"
"0000378480" "00377275" "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"
"0000378912" "00377708" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "arraySNP; PCR" "DNA" "blood" ""
"0000378913" "00377709" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "arraySNP; PCR" "DNA" "blood" ""
"0000378914" "00377710" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "arraySNP; PCR" "DNA" "blood" ""
"0000378915" "00377711" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "arraySNP; PCR" "DNA" "blood" ""
"0000379216" "00378012" "1" "03508" "03508" "2021-08-03 03:25:56" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380887" "00379686" "1" "03508" "03508" "2021-08-06 10:26:07" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380969" "00379768" "1" "03508" "03508" "2021-08-09 07:03:18" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381333" "00380131" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel"
"0000381380" "00380178" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381381" "00380179" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381394" "00380192" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381395" "00380193" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381500" "00380286" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing"
"0000381501" "00380287" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing"
"0000382069" "00380855" "1" "00000" "03840" "2021-08-23 12:31:31" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing"
"0000382070" "00380856" "1" "00000" "03840" "2021-08-23 12:31:31" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing"
"0000382071" "00380857" "1" "00000" "03840" "2021-08-23 12:31:31" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing"
"0000382072" "00380858" "1" "00000" "03840" "2021-08-23 12:31:31" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing"
"0000382074" "00380860" "1" "00000" "03840" "2021-08-23 12:31:31" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing"
"0000382320" "00381105" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382321" "00381106" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382322" "00381107" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382323" "00381108" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382324" "00381109" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382325" "00381110" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382326" "00381111" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382327" "00381112" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382328" "00381113" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382329" "00381114" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382330" "00381115" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382331" "00381116" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382332" "00381117" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382333" "00381118" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382334" "00381119" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382335" "00381120" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382336" "00381121" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000382337" "00381122" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" ""
"0000383183" "00381967" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383184" "00381968" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383185" "00381969" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383186" "00381970" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383187" "00381971" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383188" "00381972" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383189" "00381973" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383190" "00381974" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383191" "00381975" "1" "00000" "03840" "2021-09-06 15:38:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383339" "00382123" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383340" "00382124" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383341" "00382125" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383342" "00382126" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383343" "00382127" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384007" "00382791" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySNP" "DNA" "" ""
"0000384638" "00383413" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384639" "00383414" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384640" "00383415" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384641" "00383416" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384642" "00383417" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384735" "00383510" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000385456" "00384231" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385457" "00384232" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385473" "00384248" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385529" "00384304" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385548" "00384323" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385588" "00384363" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385642" "00384417" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385646" "00384421" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385654" "00384429" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385676" "00384451" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385680" "00384455" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385730" "00384505" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385734" "00384509" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000386401" "00385172" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel"
"0000387483" "00386254" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387498" "00386269" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387513" "00386284" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000388002" "00386774" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388862" "00387636" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing"
"0000388863" "00387637" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing"
"0000389978" "00388735" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000389979" "00388736" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper"
"0000390489" "00389246" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper"
"0000390962" "00389719" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000390970" "00389727" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper"
"0000390987" "00389744" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper"
"0000391054" "00389811" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper"
"0000391081" "00389838" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000391082" "00389839" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper"
"0000391087" "00389844" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper"
"0000391101" "00389858" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000391102" "00389859" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000391105" "00389862" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000391113" "00389870" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000391130" "00389887" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000391158" "00389915" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper"
"0000391186" "00389943" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper"
"0000391240" "00389997" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper"
"0000391243" "00390000" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper"
"0000391258" "00390015" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000391464" "00390223" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391465" "00390224" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391983" "00390742" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing"
"0000392240" "00390999" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392630" "00391388" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing"
"0000392788" "00391546" "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"
"0000392816" "00391574" "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"
"0000393004" "00391761" "1" "00006" "00006" "2021-11-18 17:37:21" "" "" "SEQ" "DNA" "" ""
"0000393005" "00391762" "1" "00006" "00006" "2021-11-18 17:37:21" "" "" "SEQ" "DNA" "" ""
"0000393006" "00391763" "1" "00006" "00006" "2021-11-18 17:37:21" "" "" "SEQ" "DNA" "" ""
"0000393007" "00391764" "1" "00006" "00006" "2021-11-18 17:37:21" "" "" "SEQ" "DNA" "" ""
"0000393008" "00391765" "1" "00006" "00006" "2021-11-18 17:37:21" "" "" "SEQ" "DNA" "" ""
"0000393009" "00391766" "1" "00006" "00006" "2021-11-18 17:37:21" "" "" "SEQ" "DNA" "" ""
"0000393016" "00391773" "1" "00006" "00006" "2021-11-18 19:55:52" "" "" "SEQ" "DNA" "" ""
"0000393017" "00391774" "1" "00006" "00006" "2021-11-18 19:55:52" "" "" "SEQ" "DNA" "" ""
"0000393018" "00391775" "1" "00006" "00006" "2021-11-18 19:55:52" "" "" "SEQ" "DNA" "" ""
"0000393019" "00391776" "1" "00006" "00006" "2021-11-18 19:55:52" "" "" "SEQ" "DNA" "" ""
"0000393020" "00391777" "1" "00006" "00006" "2021-11-18 19:55:52" "" "" "SEQ" "DNA" "" ""
"0000393021" "00391778" "1" "00006" "00006" "2021-11-18 19:55:52" "" "" "SEQ" "DNA" "" ""
"0000393074" "00391831" "1" "00006" "00006" "2021-11-19 11:19:46" "" "" "SEQ" "DNA" "" ""
"0000393076" "00391833" "1" "00006" "00006" "2021-11-19 11:19:46" "" "" "SEQ" "DNA" "" ""
"0000393124" "00391882" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393125" "00391883" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393126" "00391884" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393127" "00391885" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393128" "00391886" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393129" "00391887" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393130" "00391888" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393131" "00391889" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393132" "00391890" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393133" "00391891" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393134" "00391892" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393135" "00391893" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393136" "00391894" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393137" "00391895" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393138" "00391896" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393139" "00391897" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393140" "00391898" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393141" "00391899" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393142" "00391900" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393143" "00391901" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393144" "00391902" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393145" "00391903" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393146" "00391904" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393147" "00391905" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393148" "00391906" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393149" "00391907" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393150" "00391908" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393151" "00391909" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393152" "00391910" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393153" "00391911" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393154" "00391912" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393155" "00391913" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393156" "00391914" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393157" "00391915" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393158" "00391916" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393159" "00391917" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393160" "00391918" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing"
"0000393379" "00392137" "1" "00000" "03840" "2021-11-21 15:06:43" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes"
"0000393380" "00392138" "1" "00000" "03840" "2021-11-21 15:06:43" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes"
"0000393404" "00392162" "1" "00000" "03840" "2021-11-21 15:43:04" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes"
"0000393405" "00392163" "1" "00000" "03840" "2021-11-21 15:43:04" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes"
"0000395218" "00393970" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000395219" "00393971" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000395220" "00393972" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000395221" "00393973" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000395222" "00393974" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000395223" "00393975" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000395224" "00393976" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000397720" "00396477" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies"
"0000399487" "00398242" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399488" "00398243" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399489" "00398244" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399490" "00398245" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399491" "00398246" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399492" "00398247" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399493" "00398248" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399494" "00398249" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399495" "00398250" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399496" "00398251" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399497" "00398252" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399498" "00398253" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399499" "00398254" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399500" "00398255" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399501" "00398256" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399502" "00398257" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399503" "00398258" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399504" "00398259" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399505" "00398260" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399506" "00398261" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399507" "00398262" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399508" "00398263" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399509" "00398264" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399510" "00398265" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399511" "00398266" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399512" "00398267" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399513" "00398268" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399514" "00398269" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399515" "00398270" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399516" "00398271" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399517" "00398272" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399518" "00398273" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399519" "00398274" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399520" "00398275" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399521" "00398276" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399522" "00398277" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399523" "00398278" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399524" "00398279" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399525" "00398280" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399526" "00398281" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399527" "00398282" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399528" "00398283" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399529" "00398284" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399530" "00398285" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399531" "00398286" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399532" "00398287" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399533" "00398288" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399534" "00398289" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399535" "00398290" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399536" "00398291" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399537" "00398292" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399538" "00398293" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399539" "00398294" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399540" "00398295" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399541" "00398296" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399542" "00398297" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399543" "00398298" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399544" "00398299" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399545" "00398300" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399546" "00398301" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399547" "00398302" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399548" "00398303" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399549" "00398304" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399550" "00398305" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399551" "00398306" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399552" "00398307" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399553" "00398308" "1" "00000" "03840" "2022-01-03 16:29:56" "" "" "SEQ;SSCA" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399564" "00398318" "1" "00000" "03840" "2022-01-04 11:38:18" "03840" "2022-01-04 11:55:25" "SEQ" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399565" "00398319" "1" "00000" "03840" "2022-01-04 11:38:18" "03840" "2022-01-04 11:58:46" "SEQ" "DNA" "blood" "direct DNA sequencing or SSCP"
"0000399567" "00398321" "1" "00000" "03840" "2022-01-04 13:28:31" "" "" "SEQ" "DNA" "blood" ""
"0000399569" "00398323" "1" "00000" "03840" "2022-01-04 14:50:07" "" "" "SEQ" "DNA" "blood" ""
"0000399570" "00398324" "1" "00000" "03840" "2022-01-04 14:50:07" "" "" "SEQ" "DNA" "blood" ""
"0000399571" "00398325" "1" "00000" "03840" "2022-01-04 14:50:07" "" "" "SEQ" "DNA" "blood" ""
"0000399572" "00398326" "1" "00000" "03840" "2022-01-04 14:50:07" "" "" "SEQ" "DNA" "blood" ""
"0000399573" "00398327" "1" "00000" "03840" "2022-01-04 14:50:07" "" "" "SEQ" "DNA" "blood" ""
"0000399574" "00398328" "1" "00000" "03840" "2022-01-04 14:50:07" "" "" "SEQ" "DNA" "blood" ""
"0000399575" "00398329" "1" "00000" "03840" "2022-01-04 14:50:07" "" "" "SEQ" "DNA" "blood" ""
"0000399576" "00398330" "1" "00000" "03840" "2022-01-04 14:50:07" "" "" "SEQ" "DNA" "blood" ""
"0000399577" "00398331" "1" "00000" "03840" "2022-01-04 14:50:07" "" "" "SEQ" "DNA" "blood" ""
"0000399719" "00398473" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399720" "00398474" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399721" "00398475" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399722" "00398476" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399723" "00398477" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399724" "00398478" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399725" "00398479" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399726" "00398480" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399727" "00398481" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399728" "00398482" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399729" "00398483" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399730" "00398484" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399731" "00398485" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399732" "00398486" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399733" "00398487" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399734" "00398488" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399735" "00398489" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399736" "00398490" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399737" "00398491" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399738" "00398492" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399739" "00398493" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399740" "00398494" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399741" "00398495" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399742" "00398496" "1" "00000" "03840" "2022-01-05 12:11:46" "" "" "SEQ" "DNA" "blood" ""
"0000399749" "00398503" "1" "00000" "03840" "2022-01-05 16:01:27" "" "" "DHPLC;SEQ" "DNA" "blood" "index case: mutation identified with DHPLC"
"0000399750" "00398504" "1" "00000" "03840" "2022-01-05 16:01:27" "" "" "DHPLC;SEQ" "DNA" "blood" "index case: mutation identified with DHPLC"
"0000399751" "00398505" "1" "00000" "03840" "2022-01-05 16:01:27" "" "" "DHPLC;SEQ" "DNA" "blood" "index case: mutation identified with DHPLC"
"0000399752" "00398506" "1" "00000" "03840" "2022-01-05 16:01:27" "" "" "DHPLC;SEQ" "DNA" "blood" "index case: mutation identified with DHPLC"
"0000399753" "00398507" "1" "00000" "03840" "2022-01-05 16:01:27" "" "" "DHPLC;SEQ" "DNA" "blood" "index case: mutation identified with DHPLC"
"0000399754" "00398508" "1" "00000" "03840" "2022-01-05 16:01:27" "" "" "DHPLC;SEQ" "DNA" "blood" "index case: mutation identified with DHPLC"
"0000399755" "00398509" "1" "00000" "03840" "2022-01-05 16:01:27" "" "" "DHPLC;SEQ" "DNA" "blood" "index case: mutation identified with DHPLC"
"0000399758" "00398512" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399759" "00398513" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399760" "00398514" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399761" "00398515" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399762" "00398516" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399763" "00398517" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399764" "00398518" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399765" "00398519" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399766" "00398520" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399767" "00398521" "1" "00000" "03840" "2022-01-05 20:33:28" "" "" "SEQ" "DNA" "blood" ""
"0000399786" "00398540" "1" "00000" "03840" "2022-01-06 10:53:29" "" "" "SEQ" "DNA" "blood" ""
"0000399810" "00398564" "1" "00000" "03840" "2022-01-06 18:51:58" "" "" "SEQ" "DNA" "blood" ""
"0000399812" "00398566" "1" "00000" "03840" "2022-01-06 18:51:58" "" "" "SEQ" "DNA" "blood" ""
"0000399814" "00398568" "1" "00000" "03840" "2022-01-06 18:51:58" "" "" "SEQ" "DNA" "blood" ""
"0000399817" "00398571" "1" "00000" "03840" "2022-01-06 18:51:58" "" "" "SEQ" "DNA" "blood" ""
"0000399819" "00398573" "1" "00000" "03840" "2022-01-06 18:51:58" "" "" "SEQ" "DNA" "blood" ""
"0000399820" "00398574" "1" "00000" "03840" "2022-01-06 18:51:58" "" "" "SEQ" "DNA" "blood" ""
"0000399821" "00398576" "1" "00000" "03840" "2022-01-06 19:53:49" "" "" "SEQ-NG" "DNA" "blood" "Exome sequencing"
"0000399822" "00398577" "1" "00000" "03840" "2022-01-06 19:53:49" "" "" "SEQ" "DNA" "blood" "Exome sequencing"
"0000399862" "00398617" "1" "00000" "03840" "2022-01-07 12:22:23" "" "" "SEQ" "DNA" "blood" "Exome sequencing"
"0000399863" "00398618" "1" "00000" "03840" "2022-01-07 12:22:23" "" "" "SEQ" "DNA" "blood" "Exome sequencing"
"0000399864" "00398619" "1" "00000" "03840" "2022-01-07 12:22:23" "" "" "SEQ" "DNA" "blood" "Exome sequencing"
"0000399865" "00398620" "1" "00000" "03840" "2022-01-07 12:22:23" "" "" "SEQ" "DNA" "blood" "Exome sequencing"
"0000399866" "00398621" "1" "00000" "03840" "2022-01-07 12:22:23" "" "" "SEQ" "DNA" "blood" "Exome sequencing"
"0000399867" "00398622" "1" "00000" "03840" "2022-01-07 12:22:23" "" "" "SEQ" "DNA" "blood" "Exome sequencing"
"0000399868" "00398623" "1" "00000" "03840" "2022-01-07 12:22:23" "" "" "SEQ" "DNA" "blood" "Exome sequencing"
"0000399871" "00398626" "1" "00000" "03840" "2022-01-07 14:40:16" "" "" "SEQ" "DNA" "blood" ""
"0000399872" "00398627" "1" "00000" "03840" "2022-01-07 14:40:16" "" "" "SEQ" "DNA" "blood" ""
"0000399873" "00398628" "1" "00000" "03840" "2022-01-07 14:40:16" "" "" "SEQ" "DNA" "blood" ""
"0000399875" "00398630" "1" "00000" "03840" "2022-01-07 14:40:16" "" "" "SEQ" "DNA" "blood" ""
"0000399876" "00398631" "1" "00000" "03840" "2022-01-07 14:40:16" "" "" "SEQ" "DNA" "blood" ""
"0000399879" "00398634" "1" "00000" "03840" "2022-01-07 19:12:05" "" "" "SEQ" "DNA" "blood" ""
"0000399880" "00398635" "1" "00000" "03840" "2022-01-07 19:12:05" "" "" "SEQ" "DNA" "blood" ""
"0000399881" "00398636" "1" "00000" "03840" "2022-01-07 19:12:05" "" "" "SEQ" "DNA" "blood" ""
"0000399882" "00398637" "1" "00000" "03840" "2022-01-07 19:12:05" "" "" "SEQ" "DNA" "blood" ""
"0000399883" "00398638" "1" "00000" "03840" "2022-01-07 19:12:05" "" "" "SEQ" "DNA" "blood" ""
"0000399890" "00398649" "1" "00000" "03840" "2022-01-08 12:53:38" "" "" "SEQ" "DNA" "blood" ""
"0000399893" "00398652" "1" "00000" "03840" "2022-01-08 20:21:17" "" "" "SEQ" "DNA" "blood" ""
"0000399894" "00398653" "1" "00000" "03840" "2022-01-08 20:21:17" "" "" "SEQ" "DNA" "blood" ""
"0000399897" "00398656" "1" "00000" "03840" "2022-01-08 20:21:17" "" "" "SEQ" "DNA" "blood" ""
"0000399904" "00398663" "1" "00000" "03840" "2022-01-09 09:08:32" "" "" "STR;SEQ" "DNA" "blood" ""
"0000399905" "00398664" "1" "00000" "03840" "2022-01-09 09:08:32" "" "" "STR;SEQ" "DNA" "blood" ""
"0000399906" "00398665" "1" "00000" "03840" "2022-01-09 09:08:32" "" "" "STR;SEQ" "DNA" "blood" ""
"0000399907" "00398666" "1" "00000" "03840" "2022-01-09 09:08:32" "" "" "STR;SEQ" "DNA" "blood" ""
"0000399911" "00398670" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399912" "00398671" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399913" "00398672" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399914" "00398673" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399915" "00398674" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399916" "00398675" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399917" "00398676" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399918" "00398677" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399919" "00398678" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399920" "00398679" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399921" "00398680" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399922" "00398681" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399923" "00398682" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399924" "00398683" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399925" "00398684" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399926" "00398685" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399927" "00398686" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399928" "00398687" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399929" "00398688" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399930" "00398689" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399931" "00398690" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399932" "00398691" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399933" "00398692" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ-NG;arraySNP" "DNA" "blood" "whole exome sequencing"
"0000399934" "00398693" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399935" "00398694" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399936" "00398695" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399937" "00398696" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399938" "00398697" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399939" "00398698" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399940" "00398699" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399941" "00398700" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399942" "00398701" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399943" "00398702" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399944" "00398703" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399945" "00398704" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399946" "00398705" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399947" "00398706" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399948" "00398707" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399949" "00398708" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399950" "00398709" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399951" "00398710" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399952" "00398711" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399953" "00398712" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399954" "00398713" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399955" "00398714" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399956" "00398715" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399957" "00398716" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399958" "00398717" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399959" "00398718" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399960" "00398719" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399961" "00398720" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399962" "00398721" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399963" "00398722" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399964" "00398723" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399965" "00398724" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399966" "00398725" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399967" "00398726" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399968" "00398727" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399969" "00398728" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399970" "00398729" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399971" "00398730" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399972" "00398731" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399973" "00398732" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399974" "00398733" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399975" "00398734" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399976" "00398735" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399977" "00398736" "1" "00000" "03840" "2022-01-10 12:03:07" "" "" "SEQ" "DNA" "blood" ""
"0000399981" "00398740" "1" "00000" "03840" "2022-01-11 12:52:22" "" "" "SEQ" "DNA" "blood" ""
"0000399982" "00398741" "1" "00000" "03840" "2022-01-11 12:52:22" "" "" "SEQ" "DNA" "blood" ""
"0000399983" "00398742" "1" "00000" "03840" "2022-01-11 12:52:22" "" "" "SEQ" "DNA" "blood" ""
"0000399984" "00398743" "1" "00000" "03840" "2022-01-11 12:52:22" "" "" "SEQ" "DNA" "blood" ""
"0000399985" "00398744" "1" "00000" "03840" "2022-01-11 12:52:22" "" "" "SEQ" "DNA" "blood" ""
"0000399986" "00398745" "1" "00000" "03840" "2022-01-11 12:52:22" "" "" "SEQ" "DNA" "blood" ""
"0000399987" "00398746" "1" "00000" "03840" "2022-01-11 12:52:22" "" "" "SEQ" "DNA" "blood" ""
"0000399988" "00398747" "1" "00000" "03840" "2022-01-11 12:52:22" "" "" "SEQ" "DNA" "blood" ""
"0000399989" "00398748" "1" "00000" "03840" "2022-01-11 13:54:47" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000399990" "00398749" "1" "00000" "03840" "2022-01-11 13:54:47" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000399991" "00398750" "1" "00000" "03840" "2022-01-11 14:09:16" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000399992" "00398751" "1" "00000" "03840" "2022-01-11 14:45:39" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000399997" "00398756" "1" "00000" "03840" "2022-01-12 10:12:22" "" "" "SEQ" "DNA" "blood" ""
"0000399998" "00398757" "1" "00000" "03840" "2022-01-12 10:12:22" "" "" "SEQ" "DNA" "blood" ""
"0000399999" "00398758" "1" "00000" "03840" "2022-01-12 10:12:22" "" "" "SEQ" "DNA" "blood" ""
"0000400000" "00398759" "1" "00000" "03840" "2022-01-12 12:43:53" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000400001" "00398760" "1" "00000" "03840" "2022-01-12 12:43:53" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000400002" "00398761" "1" "00000" "03840" "2022-01-12 12:43:53" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000400003" "00398762" "1" "00000" "03840" "2022-01-12 12:43:53" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000400004" "00398763" "1" "00000" "03840" "2022-01-12 12:43:53" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000400005" "00398764" "1" "00000" "03840" "2022-01-12 12:43:53" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000400006" "00398765" "1" "00000" "03840" "2022-01-12 12:43:53" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000400007" "00398766" "1" "00000" "03840" "2022-01-12 12:43:53" "" "" "SEQ-NG" "DNA" "" "tagreted next-generation sequencing"
"0000400018" "00398777" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400019" "00398778" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400020" "00398779" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400021" "00398780" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400022" "00398781" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400023" "00398782" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400024" "00398783" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400025" "00398784" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400026" "00398785" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400027" "00398786" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400028" "00398787" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400029" "00398788" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400030" "00398789" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400031" "00398790" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400032" "00398791" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400033" "00398792" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400034" "00398793" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400035" "00398794" "1" "00000" "03840" "2022-01-12 13:54:16" "" "" "?" "DNA" "" "retrospective research"
"0000400036" "00398795" "1" "00000" "03840" "2022-01-12 14:17:33" "" "" "SEQ;STR" "DNA" "" ""
"0000400037" "00398796" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400038" "00398797" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400039" "00398798" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400040" "00398799" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400041" "00398800" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400042" "00398801" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400043" "00398802" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400044" "00398803" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400045" "00398804" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400046" "00398805" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000400047" "00398806" "1" "00000" "03840" "2022-01-12 16:23:30" "" "" "SEQ" "DNA" "" ""
"0000409647" "00408390" "1" "03468" "03468" "2022-04-20 21:43:29" "" "" "SEQ-NG" "DNA" "" ""
"0000409648" "00408391" "1" "03468" "03468" "2022-04-20 21:53:43" "" "" "CMC" "DNA" "" ""
"0000416060" "00414779" "1" "04360" "04360" "2022-08-03 16:16:36" "" "" "SEQ" "DNA" "" ""
"0000417044" "00415763" "1" "00000" "03840" "2022-08-15 20:20:14" "" "" "?" "DNA" "" ""
"0000417045" "00415764" "1" "00000" "03840" "2022-08-15 20:20:14" "" "" "?" "DNA" "" ""
"0000417046" "00415765" "1" "00000" "03840" "2022-08-15 20:20:14" "" "" "?" "DNA" "" ""
"0000417047" "00415766" "1" "00000" "03840" "2022-08-15 20:20:14" "" "" "?" "DNA" "" ""
"0000421002" "00419697" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000421003" "00419698" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000421004" "00419699" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000421005" "00419700" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000421041" "00419736" "1" "00000" "03840" "2022-10-22 11:47:35" "" "" "SEQ" "DNA" "blood" ""
"0000421042" "00419737" "1" "00000" "03840" "2022-10-22 11:47:35" "" "" "SEQ" "DNA" "blood" ""
"0000421043" "00419738" "1" "00000" "03840" "2022-10-22 11:47:35" "" "" "SEQ" "DNA" "blood" ""
"0000421044" "00419739" "1" "00000" "03840" "2022-10-22 11:47:35" "" "" "SEQ" "DNA" "blood" ""
"0000421045" "00419740" "1" "00000" "03840" "2022-10-22 11:47:35" "" "" "SEQ" "DNA" "blood" ""
"0000421046" "00419741" "1" "00000" "03840" "2022-10-22 11:47:35" "" "" "SEQ" "DNA" "blood" ""
"0000421047" "00419742" "1" "00000" "03840" "2022-10-22 11:47:35" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing"
"0000421048" "00419743" "1" "00000" "03840" "2022-10-22 11:47:35" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing"
"0000421049" "00419744" "1" "00000" "03840" "2022-10-22 11:47:35" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing"
"0000421368" "00420093" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421369" "00420094" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421370" "00420095" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421371" "00420096" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421372" "00420097" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421373" "00420098" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421374" "00420099" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421375" "00420100" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421376" "00420101" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421377" "00420102" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421378" "00420103" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421379" "00420104" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421380" "00420105" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421381" "00420106" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421382" "00420107" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421383" "00420108" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421384" "00420109" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421385" "00420110" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421386" "00420111" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421387" "00420112" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421388" "00420113" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421389" "00420114" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421390" "00420115" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421391" "00420116" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421392" "00420117" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421393" "00420118" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421394" "00420119" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421395" "00420120" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421396" "00420121" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421397" "00420122" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421398" "00420123" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421399" "00420124" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421400" "00420125" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421401" "00420126" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421402" "00420127" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421403" "00420128" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421404" "00420129" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421405" "00420130" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421406" "00420131" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421407" "00420132" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421408" "00420133" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421409" "00420134" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421410" "00420135" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421411" "00420136" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421412" "00420137" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421413" "00420138" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421414" "00420139" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421415" "00420140" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421416" "00420141" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421417" "00420142" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421418" "00420143" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421419" "00420144" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421420" "00420145" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421421" "00420146" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421422" "00420147" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421423" "00420148" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421424" "00420149" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421425" "00420150" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421426" "00420151" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421427" "00420152" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421428" "00420153" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421429" "00420154" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421430" "00420155" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421431" "00420156" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421432" "00420157" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421433" "00420158" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421434" "00420159" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421435" "00420160" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421436" "00420161" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421437" "00420162" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421438" "00420163" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421439" "00420164" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421440" "00420165" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421441" "00420166" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421442" "00420167" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421443" "00420168" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421444" "00420169" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421445" "00420170" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421446" "00420171" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421447" "00420172" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421448" "00420173" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421449" "00420174" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421450" "00420175" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421451" "00420176" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421452" "00420177" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421453" "00420178" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421454" "00420179" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421455" "00420180" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421456" "00420181" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421457" "00420182" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421458" "00420183" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421459" "00420184" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421460" "00420185" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421461" "00420186" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421462" "00420187" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421463" "00420188" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421464" "00420189" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421465" "00420190" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421466" "00420191" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421467" "00420192" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421468" "00420193" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421469" "00420194" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421470" "00420195" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421471" "00420196" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421472" "00420197" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421473" "00420198" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421474" "00420199" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421475" "00420200" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421476" "00420201" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421477" "00420202" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421478" "00420203" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421479" "00420204" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421480" "00420205" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421481" "00420206" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421482" "00420207" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421483" "00420208" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421484" "00420209" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421485" "00420210" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421486" "00420211" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421487" "00420212" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421488" "00420213" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421489" "00420214" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421490" "00420215" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421491" "00420216" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421492" "00420217" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421493" "00420218" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421494" "00420219" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421495" "00420220" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421496" "00420221" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421497" "00420222" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421498" "00420223" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421499" "00420224" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421500" "00420225" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421501" "00420226" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421502" "00420227" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421503" "00420228" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421504" "00420229" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421505" "00420230" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421506" "00420231" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421507" "00420232" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421508" "00420233" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421509" "00420234" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421510" "00420235" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421511" "00420236" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421512" "00420237" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421513" "00420238" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421514" "00420239" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421515" "00420240" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421516" "00420241" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421517" "00420242" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421518" "00420243" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421519" "00420244" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421520" "00420245" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421521" "00420246" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421522" "00420247" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421523" "00420248" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421524" "00420249" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421525" "00420250" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421526" "00420251" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421527" "00420252" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421528" "00420253" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421529" "00420254" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421530" "00420255" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421531" "00420256" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421532" "00420257" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421533" "00420258" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421534" "00420259" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421535" "00420260" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421536" "00420261" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421537" "00420262" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421538" "00420263" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421539" "00420264" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421540" "00420265" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421541" "00420266" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421542" "00420267" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421543" "00420268" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421544" "00420269" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421545" "00420270" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421546" "00420271" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421547" "00420272" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421548" "00420273" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421549" "00420274" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421550" "00420275" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421551" "00420276" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421552" "00420277" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421553" "00420278" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421554" "00420279" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421555" "00420280" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421556" "00420281" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421557" "00420282" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421558" "00420283" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421559" "00420284" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421560" "00420285" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421561" "00420286" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421562" "00420287" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421563" "00420288" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421564" "00420289" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421565" "00420290" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421566" "00420291" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421567" "00420292" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421568" "00420293" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421569" "00420294" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421570" "00420295" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421571" "00420296" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421572" "00420297" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421573" "00420298" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421574" "00420299" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421575" "00420300" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421576" "00420301" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421577" "00420302" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421578" "00420303" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421579" "00420304" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421580" "00420305" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421581" "00420306" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421582" "00420307" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421583" "00420308" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421584" "00420309" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421585" "00420310" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421586" "00420311" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421587" "00420312" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000421588" "00420313" "1" "00000" "03840" "2022-10-31 17:20:38" "" "" "SEQ" "DNA" "blood" ""
"0000428222" "00426902" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428227" "00426907" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428228" "00426908" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000438076" "00436592" "1" "04552" "04552" "2023-09-21 23:14:02" "" "" "SEQ-NG-I" "DNA" "" ""
"0000445828" "00444254" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000448485" "00446908" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448489" "00446912" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448490" "00446913" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448492" "00446915" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448496" "00446919" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448497" "00446920" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448498" "00446921" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448499" "00446922" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448500" "00446923" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448627" "00447050" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449059" "00447482" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449104" "00447527" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449270" "00447693" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000452381" "00450783" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452382" "00450784" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452383" "00450785" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452384" "00450786" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452385" "00450787" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452386" "00450788" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452387" "00450789" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452388" "00450790" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452389" "00450791" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452690" "00451091" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452741" "00451142" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452811" "00451212" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452816" "00451217" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452901" "00451302" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452935" "00451336" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452937" "00451338" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000453176" "00451575" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs"
"0000453177" "00451576" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs"
"0000453178" "00451577" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs"
"0000453179" "00451578" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs"
"0000453180" "00451579" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs"
"0000453181" "00451580" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs"
"0000453182" "00451581" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs"
"0000453183" "00451582" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs"
"0000456384" "00454772" "1" "04752" "04752" "2024-09-26 15:26:12" "" "" "SEQ" "DNA" "" ""
"0000456544" "00454931" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456545" "00454932" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456546" "00454933" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456547" "00454934" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456548" "00454935" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456549" "00454936" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456550" "00454937" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456551" "00454938" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456552" "00454939" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456553" "00454940" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456554" "00454941" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456555" "00454942" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456556" "00454943" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456557" "00454944" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456558" "00454945" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000462763" "00461131" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 932
"{{screeningid}}" "{{geneid}}"
"0000000414" "CTC1"
"0000019827" "CNGA3"
"0000034588" "CNGA3"
"0000034591" "CNGA3"
"0000100475" "CNGA3"
"0000145017" "EYS"
"0000156285" "CNGA3"
"0000156286" "CNGA3"
"0000156287" "CNGA3"
"0000156288" "CNGA3"
"0000156289" "CNGA3"
"0000156290" "CNGA3"
"0000156291" "CNGA3"
"0000156292" "CNGA3"
"0000156293" "CNGA3"
"0000156294" "CNGA3"
"0000156295" "CNGA3"
"0000156296" "CNGA3"
"0000156297" "CNGA3"
"0000156298" "CNGA3"
"0000156299" "CNGA3"
"0000156300" "CNGA3"
"0000156301" "CNGA3"
"0000156302" "CNGA3"
"0000156303" "CNGA3"
"0000309640" "CNGA3"
"0000309641" "CNGA3"
"0000309642" "CNGA3"
"0000309643" "CNGA3"
"0000309752" "CNGA3"
"0000309753" "CNGA3"
"0000309809" "CNGA3"
"0000310209" "CNGA3"
"0000310210" "CNGA3"
"0000310211" "CNGA3"
"0000310212" "CNGA3"
"0000310213" "CNGA3"
"0000310214" "CNGA3"
"0000310215" "CNGA3"
"0000310216" "CNGA3"
"0000310217" "CNGA3"
"0000310218" "CNGA3"
"0000310219" "CNGA3"
"0000310220" "CNGA3"
"0000310221" "CNGA3"
"0000310222" "CNGA3"
"0000310223" "CNGA3"
"0000310224" "CNGA3"
"0000310225" "CNGA3"
"0000310226" "CNGA3"
"0000310227" "CNGA3"
"0000310228" "CNGA3"
"0000310229" "CNGA3"
"0000310230" "CNGA3"
"0000310231" "CNGA3"
"0000310232" "CNGA3"
"0000310233" "CNGA3"
"0000321006" "CNGA3"
"0000321006" "CNGB3"
"0000321007" "CNGA3"
"0000321007" "CNGB3"
"0000321008" "CNGA3"
"0000321008" "CNGB3"
"0000321009" "CNGA3"
"0000321009" "CNGB3"
"0000321229" "CNGA3"
"0000321229" "CNGB3"
"0000321230" "CNGA3"
"0000321230" "CNGB3"
"0000321231" "CNGA3"
"0000321231" "CNGB3"
"0000321233" "CNGA3"
"0000321233" "CNGB3"
"0000321234" "CNGA3"
"0000321234" "CNGB3"
"0000321235" "CNGA3"
"0000321235" "CNGB3"
"0000321236" "CNGA3"
"0000321236" "CNGB3"
"0000321237" "CNGA3"
"0000321237" "CNGB3"
"0000321240" "CNGA3"
"0000321240" "CNGB3"
"0000321243" "CNGA3"
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"0000421394" "CNGA3"
"0000421395" "CNGA3"
"0000421396" "CNGA3"
"0000421397" "CNGA3"
"0000421398" "CNGA3"
"0000421399" "CNGA3"
"0000421400" "CNGA3"
"0000421401" "CNGA3"
"0000421402" "CNGA3"
"0000421403" "CNGA3"
"0000421404" "CNGA3"
"0000421405" "CNGA3"
"0000421406" "CNGA3"
"0000421407" "CNGA3"
"0000421408" "CNGA3"
"0000421409" "CNGA3"
"0000421410" "CNGA3"
"0000421411" "CNGA3"
"0000421412" "CNGA3"
"0000421413" "CNGA3"
"0000421414" "CNGA3"
"0000421415" "CNGA3"
"0000421416" "CNGA3"
"0000421417" "CNGA3"
"0000421418" "CNGA3"
"0000421419" "CNGA3"
"0000421420" "CNGA3"
"0000421421" "CNGA3"
"0000421422" "CNGA3"
"0000421423" "CNGA3"
"0000421424" "CNGA3"
"0000421425" "CNGA3"
"0000421426" "CNGA3"
"0000421427" "CNGA3"
"0000421428" "CNGA3"
"0000421429" "CNGA3"
"0000421430" "CNGA3"
"0000421431" "CNGA3"
"0000421432" "CNGA3"
"0000421433" "CNGA3"
"0000421434" "CNGA3"
"0000421435" "CNGA3"
"0000421436" "CNGA3"
"0000421437" "CNGA3"
"0000421438" "CNGA3"
"0000421439" "CNGA3"
"0000421440" "CNGA3"
"0000421441" "CNGA3"
"0000421442" "CNGA3"
"0000421443" "CNGA3"
"0000421444" "CNGA3"
"0000421445" "CNGA3"
"0000421446" "CNGA3"
"0000421447" "CNGA3"
"0000421448" "CNGA3"
"0000421449" "CNGA3"
"0000421450" "CNGA3"
"0000421451" "CNGA3"
"0000421452" "CNGA3"
"0000421453" "CNGA3"
"0000421454" "CNGA3"
"0000421455" "CNGA3"
"0000421456" "CNGA3"
"0000421457" "CNGA3"
"0000421458" "CNGA3"
"0000421459" "CNGA3"
"0000421460" "CNGA3"
"0000421461" "CNGA3"
"0000421462" "CNGA3"
"0000421463" "CNGA3"
"0000421464" "CNGA3"
"0000421465" "CNGA3"
"0000421466" "CNGA3"
"0000421467" "CNGA3"
"0000421468" "CNGA3"
"0000421469" "CNGA3"
"0000421470" "CNGA3"
"0000421471" "CNGA3"
"0000421472" "CNGA3"
"0000421473" "CNGA3"
"0000421474" "CNGA3"
"0000421475" "CNGA3"
"0000421476" "CNGA3"
"0000421477" "CNGA3"
"0000421478" "CNGA3"
"0000421479" "CNGA3"
"0000421480" "CNGA3"
"0000421481" "CNGA3"
"0000421482" "CNGA3"
"0000421483" "CNGA3"
"0000421484" "CNGA3"
"0000421485" "CNGA3"
"0000421486" "CNGA3"
"0000421487" "CNGA3"
"0000421488" "CNGA3"
"0000421489" "CNGA3"
"0000421490" "CNGA3"
"0000421491" "CNGA3"
"0000421492" "CNGA3"
"0000421493" "CNGA3"
"0000421494" "CNGA3"
"0000421495" "CNGA3"
"0000421496" "CNGA3"
"0000421497" "CNGA3"
"0000421498" "CNGA3"
"0000421499" "CNGA3"
"0000421500" "CNGA3"
"0000421501" "CNGA3"
"0000421502" "CNGA3"
"0000421503" "CNGA3"
"0000421504" "CNGA3"
"0000421505" "CNGA3"
"0000421506" "CNGA3"
"0000421507" "CNGA3"
"0000421508" "CNGA3"
"0000421509" "CNGA3"
"0000421510" "CNGA3"
"0000421511" "CNGA3"
"0000421512" "CNGA3"
"0000421513" "CNGA3"
"0000421514" "CNGA3"
"0000421515" "CNGA3"
"0000421516" "CNGA3"
"0000421517" "CNGA3"
"0000421518" "CNGA3"
"0000421519" "CNGA3"
"0000421520" "CNGA3"
"0000421521" "CNGA3"
"0000421522" "CNGA3"
"0000421523" "CNGA3"
"0000421524" "CNGA3"
"0000421525" "CNGA3"
"0000421526" "CNGA3"
"0000421527" "CNGA3"
"0000421528" "CNGA3"
"0000421529" "CNGA3"
"0000421530" "CNGA3"
"0000421531" "CNGA3"
"0000421532" "CNGA3"
"0000421533" "CNGA3"
"0000421534" "CNGA3"
"0000421535" "CNGA3"
"0000421536" "CNGA3"
"0000421537" "CNGA3"
"0000421538" "CNGA3"
"0000421539" "CNGA3"
"0000421540" "CNGA3"
"0000421541" "CNGA3"
"0000421542" "CNGA3"
"0000421543" "CNGA3"
"0000421544" "CNGA3"
"0000421545" "CNGA3"
"0000421546" "CNGA3"
"0000421547" "CNGA3"
"0000421548" "CNGA3"
"0000421549" "CNGA3"
"0000421550" "CNGA3"
"0000421551" "CNGA3"
"0000421552" "CNGA3"
"0000421553" "CNGA3"
"0000421554" "CNGA3"
"0000421555" "CNGA3"
"0000421556" "CNGA3"
"0000421557" "CNGA3"
"0000421558" "CNGA3"
"0000421559" "CNGA3"
"0000421560" "CNGA3"
"0000421561" "CNGA3"
"0000421562" "CNGA3"
"0000421563" "CNGA3"
"0000421564" "CNGA3"
"0000421565" "CNGA3"
"0000421566" "CNGA3"
"0000421567" "CNGA3"
"0000421568" "CNGA3"
"0000421569" "CNGA3"
"0000421570" "CNGA3"
"0000421571" "CNGA3"
"0000421572" "CNGA3"
"0000421573" "CNGA3"
"0000421574" "CNGA3"
"0000421575" "CNGA3"
"0000421576" "CNGA3"
"0000421577" "CNGA3"
"0000421578" "CNGA3"
"0000421579" "CNGA3"
"0000421580" "CNGA3"
"0000421581" "CNGA3"
"0000421582" "CNGA3"
"0000421583" "CNGA3"
"0000421584" "CNGA3"
"0000421585" "CNGA3"
"0000421586" "CNGA3"
"0000421587" "CNGA3"
"0000421588" "CNGA3"
"0000428222" "CNGA3"
"0000428227" "CNGA3"
"0000428228" "CNGA3"
"0000438076" "CNGA3"
"0000456384" "CNGA3"
"0000456384" "CNGB3"
## 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 = 1972
"{{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}}"
"0000040275" "0" "70" "2" "99012638" "99012638" "subst" "0" "00705" "CNGA3_000003" "g.99012638G>T" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "?" "" "0" "" "" "g.98396175G>T" "" "likely pathogenic" ""
"0000061692" "3" "90" "2" "99013212" "99013212" "subst" "0" "00006" "CNGA3_000002" "g.99013212C>A" "" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "" "" "not in 400 control chromosomes" "Germline" "yes" "" "0" "" "" "g.98396749C>A" "" "pathogenic" ""
"0000061695" "3" "90" "2" "99012588" "99012588" "subst" "1.6243E-5" "01264" "CNGA3_000001" "g.99012588T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.98396125T>C" "" "pathogenic" ""
"0000162774" "3" "90" "2" "99012585" "99012585" "subst" "1.21826E-5" "01769" "CNGA3_000004" "g.99012585G>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98396122G>A" "" "pathogenic" ""
"0000170890" "3" "70" "2" "99013401" "99013401" "subst" "4.06362E-6" "01244" "CNGA3_000005" "g.99013401G>A" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "" "" "0" "" "" "g.98396938G>A" "" "VUS" "ACMG"
"0000245711" "0" "70" "2" "99006213" "99006213" "subst" "0" "02330" "CNGA3_000012" "g.99006213A>G" "" "" "" "CNGA3(NM_001298.2):c.542A>G (p.Y181C), CNGA3(NM_001298.3):c.542A>G (p.Y181C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98389750A>G" "" "likely pathogenic" ""
"0000245952" "0" "10" "2" "98994274" "98994274" "subst" "0.00101577" "02330" "CNGA3_000008" "g.98994274A>G" "" "" "" "CNGA3(NM_001298.3):c.215+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98377811A>G" "" "benign" ""
"0000246016" "0" "50" "2" "99013582" "99013582" "subst" "0.000195279" "02330" "CNGA3_000026" "g.99013582A>C" "" "" "" "CNGA3(NM_001298.3):c.1949A>C (p.E650A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98397119A>C" "" "VUS" ""
"0000249012" "0" "10" "2" "98994134" "98994134" "subst" "0.0827305" "02325" "CNGA3_000006" "g.98994134A>G" "" "" "" "CNGA3(NM_001298.3):c.102-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98377671A>G" "" "benign" ""
"0000255350" "0" "70" "2" "99006213" "99006213" "subst" "0" "01943" "CNGA3_000012" "g.99006213A>G" "" "" "" "CNGA3(NM_001298.2):c.542A>G (p.Y181C), CNGA3(NM_001298.3):c.542A>G (p.Y181C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98389750A>G" "" "likely pathogenic" ""
"0000264677" "0" "90" "2" "99012707" "99012707" "subst" "1.21907E-5" "02330" "CNGA3_000018" "g.99012707G>A" "" "" "" "CNGA3(NM_001298.3):c.1074G>A (p.W358*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396244G>A" "" "pathogenic" ""
"0000264678" "0" "10" "2" "99012734" "99012734" "subst" "0.000309424" "02330" "CNGA3_000019" "g.99012734T>C" "" "" "" "CNGA3(NM_001298.2):c.1101T>C (p.G367=), CNGA3(NM_001298.3):c.1101T>C (p.G367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396271T>C" "" "benign" ""
"0000264679" "0" "50" "2" "99013125" "99013125" "subst" "0" "02330" "CNGA3_000020" "g.99013125C>G" "" "" "" "CNGA3(NM_001298.3):c.1492C>G (p.L498V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396662C>G" "" "VUS" ""
"0000264680" "0" "30" "2" "98994199" "98994199" "subst" "2.44696E-5" "02330" "CNGA3_000007" "g.98994199G>A" "" "" "" "CNGA3(NM_001298.3):c.151G>A (p.A51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98377736G>A" "" "likely benign" ""
"0000264681" "0" "90" "2" "99013321" "99013321" "subst" "7.72295E-5" "02330" "CNGA3_000022" "g.99013321G>A" "" "" "" "CNGA3(NM_001298.3):c.1688G>A (p.R563H, p.(Arg563His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396858G>A" "" "pathogenic" ""
"0000264682" "0" "10" "2" "99013496" "99013496" "subst" "0.000265284" "02330" "CNGA3_000025" "g.99013496G>A" "" "" "" "CNGA3(NM_001298.2):c.1863G>A (p.A621=), CNGA3(NM_001298.3):c.1863G>A (p.A621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98397033G>A" "" "benign" ""
"0000264683" "0" "50" "2" "99012373" "99012373" "subst" "0.00112897" "02330" "CNGA3_000017" "g.99012373C>T" "" "" "" "CNGA3(NM_001298.2):c.740C>T (p.T247M), CNGA3(NM_001298.3):c.740C>T (p.T247M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98395910C>T" "" "VUS" ""
"0000273650" "0" "50" "2" "99013251" "99013251" "subst" "0.00139811" "01943" "CNGA3_000021" "g.99013251G>A" "" "" "" "CNGA3(NM_001298.2):c.1618G>A (p.V540I), CNGA3(NM_001298.3):c.1618G>A (p.V540I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396788G>A" "" "VUS" ""
"0000273651" "0" "30" "2" "99013379" "99013379" "subst" "0.000893909" "01943" "CNGA3_000023" "g.99013379C>T" "" "" "" "CNGA3(NM_001298.2):c.1746C>T (p.D582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396916C>T" "" "likely benign" ""
"0000273652" "0" "30" "2" "99013409" "99013409" "subst" "0.000300825" "01943" "CNGA3_000024" "g.99013409C>T" "" "" "" "CNGA3(NM_001298.2):c.1776C>T (p.P592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396946C>T" "" "likely benign" ""
"0000273653" "0" "30" "2" "98999895" "98999895" "subst" "0.000296524" "01943" "CNGA3_000010" "g.98999895C>G" "" "" "" "CNGA3(NM_001298.2):c.440C>G (p.T147R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98383432C>G" "" "likely benign" ""
"0000273654" "0" "50" "2" "99006144" "99006144" "subst" "0.000397934" "01943" "CNGA3_000011" "g.99006144C>T" "" "" "" "CNGA3(NM_001298.2):c.473C>T (p.A158V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98389681C>T" "" "VUS" ""
"0000273655" "0" "30" "2" "99008357" "99008357" "subst" "1.62444E-5" "01943" "CNGA3_000013" "g.99008357C>T" "" "" "" "CNGA3(NM_001298.2):c.597C>T (p.Y199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98391894C>T" "" "likely benign" ""
"0000273656" "0" "50" "2" "99008422" "99008422" "subst" "8.12982E-5" "01943" "CNGA3_000014" "g.99008422G>A" "" "" "" "CNGA3(NM_001298.2):c.662G>A (p.R221Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98391959G>A" "" "VUS" ""
"0000273657" "0" "30" "2" "99012300" "99012300" "subst" "0" "01943" "CNGA3_000015" "g.99012300T>G" "" "" "" "CNGA3(NM_001298.2):c.674-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98395837T>G" "" "likely benign" ""
"0000327182" "0" "50" "2" "99012315" "99012315" "subst" "0.00138165" "01804" "CNGA3_000016" "g.99012315G>A" "" "" "" "CNGA3(NM_001079878.1):c.628G>A (p.(Glu210Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98395852G>A" "" "VUS" ""
"0000338956" "0" "10" "2" "98962749" "98962749" "subst" "0" "02327" "CNGA3_000027" "g.98962749C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98346286C>T" "" "benign" ""
"0000338957" "0" "10" "2" "98994134" "98994134" "subst" "0.0827305" "02327" "CNGA3_000006" "g.98994134A>G" "" "" "" "CNGA3(NM_001298.3):c.102-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98377671A>G" "" "benign" ""
"0000340597" "0" "10" "2" "98986510" "98986510" "subst" "0.133018" "02327" "CNGA3_000029" "g.98986510T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98370047T>C" "" "benign" ""
"0000342303" "0" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "02327" "CNGA3_000031" "g.99008427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000342325" "0" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "02327" "CNGA3_000028" "g.98986505C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98370042C>T" "" "pathogenic" ""
"0000342504" "0" "90" "2" "99012455" "99012455" "subst" "3.24923E-5" "02327" "CNGA3_000032" "g.99012455G>T" "" "" "" "CNGA3(NM_001298.3):c.822G>T (p.R274S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98395992G>T" "" "pathogenic" ""
"0000342515" "0" "90" "2" "99012462" "99012462" "subst" "0.000105615" "02327" "CNGA3_000033" "g.99012462C>T" "" "" "" "CNGA3(NM_001298.3):c.829C>T (p.R277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic" ""
"0000342529" "0" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "02327" "CNGA3_000035" "g.99012481G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396018G>A" "" "pathogenic" ""
"0000342530" "0" "90" "2" "99012480" "99012480" "subst" "0.000105635" "02327" "CNGA3_000034" "g.99012480C>T" "" "" "" "CNGA3(NM_001298.2):c.847C>T (p.R283W), CNGA3(NM_001298.3):c.847C>T (p.R283W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic" ""
"0000342881" "0" "90" "2" "99012912" "99012912" "subst" "0.000399605" "02327" "CNGA3_000038" "g.99012912C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396449C>T" "" "pathogenic" ""
"0000342895" "0" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "02327" "CNGA3_000039" "g.99012939C>T" "" "" "" "CNGA3(NM_001298.2):c.1306C>T (p.R436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000343017" "0" "90" "2" "99013128" "99013128" "subst" "8.13941E-6" "02327" "CNGA3_000041" "g.99013128C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396665C>T" "" "pathogenic" ""
"0000343111" "0" "90" "2" "99013321" "99013321" "subst" "7.72295E-5" "02327" "CNGA3_000022" "g.99013321G>A" "" "" "" "CNGA3(NM_001298.3):c.1688G>A (p.R563H, p.(Arg563His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396858G>A" "" "pathogenic" ""
"0000344124" "0" "50" "2" "99013153" "99013153" "subst" "1.62784E-5" "02327" "CNGA3_000042" "g.99013153A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396690A>G" "" "VUS" ""
"0000346758" "0" "90" "2" "99013198" "99013198" "subst" "0" "02327" "CNGA3_000043" "g.99013198T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396735T>C" "" "pathogenic" ""
"0000348069" "0" "90" "2" "99013274" "99013274" "subst" "0.000150361" "02327" "CNGA3_000044" "g.99013274C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic" ""
"0000348228" "0" "70" "2" "99006159" "99006159" "subst" "1.62422E-5" "02327" "CNGA3_000030" "g.99006159C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98389696C>T" "" "likely pathogenic" ""
"0000348412" "0" "90" "2" "99012748" "99012748" "subst" "0" "02327" "CNGA3_000037" "g.99012748C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396285C>T" "" "pathogenic" ""
"0000348413" "0" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "02327" "CNGA3_000036" "g.99012747C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000350585" "0" "30" "2" "99013251" "99013251" "subst" "0.00139811" "02327" "CNGA3_000021" "g.99013251G>A" "" "" "" "CNGA3(NM_001298.2):c.1618G>A (p.V540I), CNGA3(NM_001298.3):c.1618G>A (p.V540I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98396788G>A" "" "likely benign" ""
"0000358207" "3" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "01243" "CNGA3_000028" "g.98986505C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98370042C>T" "" "pathogenic" ""
"0000358208" "3" "90" "2" "98994178" "98994199" "del" "0" "01243" "CNGA3_000045" "g.98994178_98994199del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000358209" "21" "70" "2" "99008427" "99008427" "subst" "3.25288E-5" "01243" "CNGA3_000046" "g.99008427C>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>G" "" "likely pathogenic" ""
"0000358210" "21" "70" "2" "99008427" "99008427" "subst" "3.25288E-5" "01243" "CNGA3_000046" "g.99008427C>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>G" "" "likely pathogenic" ""
"0000358211" "21" "70" "2" "99012444" "99012444" "subst" "0.000121831" "01243" "CNGA3_000047" "g.99012444C>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98395981C>G" "" "likely pathogenic" ""
"0000358212" "11" "70" "2" "99012462" "99012462" "subst" "0.000105615" "01243" "CNGA3_000033" "g.99012462C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000358213" "3" "70" "2" "99012462" "99012462" "subst" "0.000105615" "01243" "CNGA3_000033" "g.99012462C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000358214" "21" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "01243" "CNGA3_000048" "g.99012463G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000358215" "11" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "01243" "CNGA3_000035" "g.99012481G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000358216" "11" "70" "2" "99012537" "99012537" "subst" "0" "01243" "CNGA3_000049" "g.99012537A>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396074A>G" "" "likely pathogenic" ""
"0000358217" "3" "90" "2" "99012564" "99012566" "del" "0" "01243" "CNGA3_000050" "g.99012564_99012566del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000358218" "11" "90" "2" "99012564" "99012566" "del" "0" "01243" "CNGA3_000050" "g.99012564_99012566del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000358219" "0" "90" "2" "99012564" "99012566" "del" "0" "01243" "CNGA3_000050" "g.99012564_99012566del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000358220" "3" "70" "2" "99012618" "99012618" "subst" "0" "01243" "CNGA3_000051" "g.99012618G>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000358221" "3" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "01243" "CNGA3_000036" "g.99012747C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000358222" "11" "90" "2" "99012927" "99012927" "del" "0" "01243" "CNGA3_000052" "g.99012927del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396464del" "" "pathogenic" ""
"0000358223" "3" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "01243" "CNGA3_000053" "g.99013218G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "pathogenic" ""
"0000358224" "21" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "01243" "CNGA3_000053" "g.99013218G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "pathogenic" ""
"0000358225" "3" "70" "2" "99013302" "99013302" "subst" "0.000154414" "01243" "CNGA3_000056" "g.99013302G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000358420" "11" "70" "2" "99012618" "99012618" "subst" "0" "01243" "CNGA3_000051" "g.99012618G>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000358421" "11" "70" "2" "99013302" "99013302" "subst" "0.000154414" "01243" "CNGA3_000056" "g.99013302G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000358422" "11" "70" "2" "99012618" "99012618" "subst" "0" "01243" "CNGA3_000051" "g.99012618G>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000358423" "21" "70" "2" "99012618" "99012618" "subst" "0" "01243" "CNGA3_000051" "g.99012618G>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000358424" "11" "70" "2" "99013302" "99013302" "subst" "0.000154414" "01243" "CNGA3_000056" "g.99013302G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000358425" "21" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "01243" "CNGA3_000039" "g.99012939C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000358426" "21" "70" "2" "99013273" "99013273" "subst" "0" "01243" "CNGA3_000054" "g.99013273T>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396810T>G" "" "likely pathogenic" ""
"0000358427" "21" "70" "2" "99013273" "99013273" "subst" "0" "01243" "CNGA3_000054" "g.99013273T>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396810T>G" "" "likely pathogenic" ""
"0000358428" "0" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "01243" "CNGA3_000053" "g.99013218G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "pathogenic" ""
"0000358429" "21" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "01243" "CNGA3_000053" "g.99013218G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "pathogenic" ""
"0000358430" "11" "90" "2" "99013275" "99013275" "subst" "2.43845E-5" "01243" "CNGA3_000055" "g.99013275G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.98396812G>A" "" "pathogenic" ""
"0000478751" "0" "90" "2" "29294424" "29294424" "subst" "0" "01807" "C2orf71_000096" "g.29294424T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29071558T>A" "" "pathogenic" ""
"0000478752" "0" "90" "2" "29296355" "29296356" "del" "0" "01807" "C2orf71_000060" "g.29296355_29296356del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.29073489_29073490del" "" "pathogenic" ""
"0000517235" "0" "50" "2" "98986468" "98986468" "subst" "0" "02330" "CNGA3_000057" "g.98986468C>A" "" "" "" "CNGA3(NM_001298.3):c.30C>A (p.H10Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98370005C>A" "" "VUS" ""
"0000517236" "0" "90" "2" "98986500" "98986500" "subst" "2.0327E-5" "01943" "CNGA3_000058" "g.98986500C>G" "" "" "" "CNGA3(NM_001298.2):c.62C>G (p.S21*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98370037C>G" "" "pathogenic" ""
"0000517237" "0" "30" "2" "98994192" "98994192" "subst" "0.000158999" "01943" "CNGA3_000059" "g.98994192G>A" "" "" "" "CNGA3(NM_001298.2):c.144G>A (p.P48=), CNGA3(NM_001298.3):c.144G>A (p.P48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98377729G>A" "" "likely benign" ""
"0000517238" "0" "30" "2" "98996775" "98996775" "subst" "0.000621476" "01943" "CNGA3_000009" "g.98996775A>G" "" "" "" "CNGA3(NM_001298.2):c.353A>G (p.Q118R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98380312A>G" "" "likely benign" ""
"0000517239" "0" "30" "2" "98996792" "98996792" "subst" "0" "01943" "CNGA3_000060" "g.98996792C>G" "" "" "" "CNGA3(NM_001298.2):c.370C>G (p.Q124E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98380329C>G" "" "likely benign" ""
"0000517240" "0" "50" "2" "99006184" "99006184" "subst" "4.06081E-6" "02327" "CNGA3_000061" "g.99006184G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98389721G>T" "" "VUS" ""
"0000517241" "0" "50" "2" "99008386" "99008386" "subst" "0.000251824" "01943" "CNGA3_000062" "g.99008386C>T" "" "" "" "CNGA3(NM_001298.2):c.626C>T (p.S209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98391923C>T" "" "VUS" ""
"0000517242" "0" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "02327" "CNGA3_000063" "g.99008421C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98391958C>T" "" "pathogenic" ""
"0000517243" "0" "50" "2" "99008430" "99008430" "subst" "0" "01943" "CNGA3_000064" "g.99008430A>G" "" "" "" "CNGA3(NM_001298.2):c.670A>G (p.T224A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98391967A>G" "" "VUS" ""
"0000517244" "0" "30" "2" "99012373" "99012373" "subst" "0.00112897" "01943" "CNGA3_000017" "g.99012373C>T" "" "" "" "CNGA3(NM_001298.2):c.740C>T (p.T247M), CNGA3(NM_001298.3):c.740C>T (p.T247M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98395910C>T" "" "likely benign" ""
"0000517245" "0" "10" "2" "99012423" "99012423" "subst" "0.000552271" "02330" "CNGA3_000065" "g.99012423T>A" "" "" "" "CNGA3(NM_001298.3):c.790T>A (p.L264I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98395960T>A" "" "benign" ""
"0000517246" "0" "90" "2" "99012455" "99012455" "subst" "3.24923E-5" "02329" "CNGA3_000032" "g.99012455G>T" "" "" "" "CNGA3(NM_001298.3):c.822G>T (p.R274S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98395992G>T" "" "pathogenic" ""
"0000517247" "0" "90" "2" "99012480" "99012480" "subst" "0.000105635" "01943" "CNGA3_000034" "g.99012480C>T" "" "" "" "CNGA3(NM_001298.2):c.847C>T (p.R283W), CNGA3(NM_001298.3):c.847C>T (p.R283W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396017C>T" "" "pathogenic" ""
"0000517248" "0" "50" "2" "99012502" "99012502" "subst" "0.000150279" "02330" "CNGA3_000066" "g.99012502G>A" "" "" "" "CNGA3(NM_001298.3):c.869G>A (p.R290H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396039G>A" "" "VUS" ""
"0000517249" "0" "50" "2" "99012736" "99012736" "subst" "0" "02330" "CNGA3_000067" "g.99012736A>G" "" "" "" "CNGA3(NM_001298.3):c.1103A>G (p.E368G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396273A>G" "" "VUS" ""
"0000517250" "0" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "01943" "CNGA3_000039" "g.99012939C>T" "" "" "" "CNGA3(NM_001298.2):c.1306C>T (p.R436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396476C>T" "" "pathogenic" ""
"0000517251" "0" "50" "2" "99012948" "99012948" "subst" "2.03568E-5" "02327" "CNGA3_000068" "g.99012948C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396485C>T" "" "VUS" ""
"0000517252" "0" "30" "2" "99012989" "99012989" "subst" "0" "01943" "CNGA3_000069" "g.99012989T>C" "" "" "" "CNGA3(NM_001298.2):c.1356T>C (p.D452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396526T>C" "" "likely benign" ""
"0000517253" "0" "50" "2" "99013153" "99013153" "subst" "4.06961E-6" "02330" "CNGA3_000070" "g.99013153A>T" "" "" "" "CNGA3(NM_001298.2):c.1520A>T (p.D507V), CNGA3(NM_001298.3):c.1520A>T (p.D507V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396690A>T" "" "VUS" ""
"0000517254" "0" "70" "2" "99013190" "99013190" "subst" "4.88404E-5" "02330" "CNGA3_000071" "g.99013190G>A" "" "" "" "CNGA3(NM_001298.2):c.1557G>A (p.M519I), CNGA3(NM_001298.3):c.1557G>A (p.M519I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396727G>A" "" "likely pathogenic" ""
"0000517255" "0" "70" "2" "99013190" "99013190" "subst" "4.88404E-5" "01943" "CNGA3_000071" "g.99013190G>A" "" "" "" "CNGA3(NM_001298.2):c.1557G>A (p.M519I), CNGA3(NM_001298.3):c.1557G>A (p.M519I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396727G>A" "" "likely pathogenic" ""
"0000517256" "0" "50" "2" "99013327" "99013327" "subst" "0.000154434" "02330" "CNGA3_000072" "g.99013327C>T" "" "" "" "CNGA3(NM_001298.3):c.1694C>T (p.T565M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396864C>T" "" "VUS" ""
"0000517257" "0" "50" "2" "99013338" "99013338" "subst" "8.12671E-6" "02330" "CNGA3_000073" "g.99013338C>T" "" "" "" "CNGA3(NM_001298.3):c.1705C>T (p.R569C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396875C>T" "" "VUS" ""
"0000517258" "0" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "02327" "CNGA3_000074" "g.99013339G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000517259" "0" "30" "2" "99013400" "99013400" "subst" "0.00101609" "01943" "CNGA3_000075" "g.99013400C>T" "" "" "" "CNGA3(NM_001298.2):c.1767C>T (p.T589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396937C>T" "" "likely benign" ""
"0000592005" "0" "90" "2" "99012411" "99012411" "dup" "0" "01807" "CNGA3_000077" "g.99012411dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.98395948dup" "" "pathogenic" ""
"0000592006" "0" "90" "2" "99006160" "99006163" "del" "0" "01807" "CNGA3_000076" "g.99006160_99006163del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.98389697_98389700del" "" "pathogenic" ""
"0000608171" "0" "90" "2" "98986401" "98986401" "subst" "0" "02327" "CNGA3_000078" "g.98986401G>C" "" "" "" "CNGA3(NM_001298.3):c.-37-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98369938G>C" "" "pathogenic" ""
"0000608172" "0" "50" "2" "98986504" "98986504" "subst" "0" "01943" "CNGA3_000079" "g.98986504C>G" "" "" "" "CNGA3(NM_001298.2):c.66C>G (p.D22E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98370041C>G" "" "VUS" ""
"0000608173" "0" "90" "2" "98986540" "98986540" "subst" "0.000266114" "01943" "CNGA3_000080" "g.98986540G>A" "" "" "" "CNGA3(NM_001298.2):c.101+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98370077G>A" "" "pathogenic" ""
"0000608174" "0" "90" "2" "99012864" "99012864" "del" "0" "01943" "CNGA3_000082" "g.99012864del" "" "" "" "CNGA3(NM_001298.2):c.1231delG (p.A411Qfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98396401del" "" "pathogenic" ""
"0000621139" "0" "10" "2" "98994130" "98994130" "subst" "0.00101284" "02330" "CNGA3_000081" "g.98994130C>T" "" "" "" "CNGA3(NM_001298.3):c.102-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98377667C>T" "" "benign" ""
"0000621140" "0" "90" "2" "99012462" "99012462" "subst" "0.000105615" "02330" "CNGA3_000033" "g.99012462C>T" "" "" "" "CNGA3(NM_001298.3):c.829C>T (p.R277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98395999C>T" "" "pathogenic" ""
"0000650713" "1" "90" "2" "99006159" "99006159" "subst" "1.62422E-5" "03575" "CNGA3_000030" "g.99006159C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104893612}" "Germline" "" "rs104893612" "0" "" "" "g.98389696C>T" "" "pathogenic" ""
"0000650714" "1" "50" "2" "99012315" "99012315" "subst" "0.00138165" "03575" "CNGA3_000016" "g.99012315G>A" "64/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 64 heterozygous; {DB:CLININrs147415641}" "Germline" "" "rs147415641" "0" "" "" "g.98395852G>A" "" "VUS" ""
"0000650715" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "03575" "CNGA3_000033" "g.99012462C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104893620}" "Germline" "" "rs104893620" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000650716" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "03575" "CNGA3_000001" "g.99012588T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs753625117}" "Germline" "" "rs753625117" "0" "" "" "g.98396125T>C" "" "likely pathogenic" ""
"0000650717" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "03575" "CNGA3_000038" "g.99012912C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs141386891}" "Germline" "" "rs141386891" "0" "" "" "g.98396449C>T" "" "pathogenic" ""
"0000650718" "1" "50" "2" "99013251" "99013251" "subst" "0.00139811" "03575" "CNGA3_000021" "g.99013251G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs116448158}" "Germline" "" "rs116448158" "0" "" "" "g.98396788G>A" "" "VUS" ""
"0000653255" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "03575" "CNGA3_000044" "g.99013274C>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs104893617}" "Germline" "" "rs104893617" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000669657" "3" "50" "2" "99012315" "99012315" "subst" "0.00138165" "03575" "CNGA3_000016" "g.99012315G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs147415641}" "Germline" "" "rs147415641" "0" "" "" "g.98395852G>A" "" "VUS" ""
"0000674726" "3" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "01164" "CNGA3_000048" "g.99012463G>A" "" "Wissinger et al. 2001. Am J Hum Genet 69: 722; Muraki-Oda et al. 2007. Biochem Biophys Res Commun 362: 88; Fahim et al. 2013. Am J Ophthalmol 156: 12112; Huang et al. 2016. Exp Eye Res 146: 252" "" "" "ACMG grading: PS4,PM1,PM2,PM3,PM5,PP3" "Germline" "" "rs778114016" "0" "" "" "" "" "pathogenic" "ACMG"
"0000676753" "0" "30" "2" "99013496" "99013496" "subst" "0.000265284" "01943" "CNGA3_000025" "g.99013496G>A" "" "" "" "CNGA3(NM_001298.2):c.1863G>A (p.A621=), CNGA3(NM_001298.3):c.1863G>A (p.A621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000676754" "0" "30" "2" "99013535" "99013535" "subst" "1.22052E-5" "01943" "CNGA3_000083" "g.99013535G>T" "" "" "" "CNGA3(NM_001298.2):c.1902G>T (p.G634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000684513" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00004" "CNGA3_000033" "g.99012462C>T" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000684514" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00004" "CNGA3_000034" "g.99012480C>T" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000684515" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00004" "CNGA3_000053" "g.99013218G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000684516" "1" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "00004" "CNGA3_000074" "g.99013339G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000684625" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00004" "CNGA3_000044" "g.99013274C>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic (recessive)" ""
"0000684626" "3" "70" "2" "99013352" "99013352" "subst" "0" "00004" "CNGA3_000087" "g.99013352C>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.98396889C>G" "" "likely pathogenic (recessive)" ""
"0000684682" "1" "50" "2" "99006224" "99006224" "subst" "4.06138E-6" "00004" "CNGA3_000085" "g.99006224C>G" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000684712" "2" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00004" "CNGA3_000035" "g.99012481G>A" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000685120" "0" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "00004" "CNGA3_000028" "g.98986505C>T" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685121" "0" "90" "2" "98986540" "98986540" "subst" "0.000266114" "00004" "CNGA3_000080" "g.98986540G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685122" "0" "90" "2" "98994178" "98994199" "dup" "0" "00004" "CNGA3_000045" "g.98994178_98994199dup" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.130_151dup22" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685123" "0" "70" "2" "98996738" "98996738" "subst" "2.43665E-5" "00004" "CNGA3_000084" "g.98996738G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685124" "0" "90" "2" "99008427" "99008427" "subst" "3.25288E-5" "00004" "CNGA3_000046" "g.99008427C>G" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685125" "0" "70" "2" "99012315" "99012315" "subst" "0.00138165" "00004" "CNGA3_000016" "g.99012315G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685126" "0" "70" "2" "99012444" "99012444" "subst" "0.000121831" "00004" "CNGA3_000047" "g.99012444C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685127" "0" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00004" "CNGA3_000033" "g.99012462C>T" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685128" "0" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00004" "CNGA3_000033" "g.99012462C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685129" "0" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00004" "CNGA3_000035" "g.99012481G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685130" "0" "70" "2" "99012537" "99012537" "subst" "0" "00004" "CNGA3_000049" "g.99012537A>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685131" "0" "90" "2" "99012573" "99012575" "del" "0" "00004" "CNGA3_000050" "g.99012573_99012575del" "10/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685132" "0" "90" "2" "99012618" "99012618" "subst" "0" "00004" "CNGA3_000051" "g.99012618G>T" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685133" "0" "90" "2" "99012618" "99012618" "subst" "0" "00004" "CNGA3_000051" "g.99012618G>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685134" "0" "70" "2" "99012747" "99012747" "subst" "0" "00004" "CNGA3_000086" "g.99012747C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685135" "0" "90" "2" "99012747" "99012747" "subst" "8.15874E-6" "00004" "CNGA3_000036" "g.99012747C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685136" "0" "90" "2" "99012747" "99012747" "subst" "8.15874E-6" "00004" "CNGA3_000036" "g.99012747C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685137" "0" "90" "2" "99012927" "99012927" "del" "0" "00004" "CNGA3_000052" "g.99012927del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685138" "0" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00004" "CNGA3_000039" "g.99012939C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685139" "0" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "00004" "CNGA3_000053" "g.99013218G>A" "17/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685140" "0" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "00004" "CNGA3_000053" "g.99013218G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685141" "0" "70" "2" "99013251" "99013251" "subst" "0.00139811" "00004" "CNGA3_000021" "g.99013251G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685142" "0" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00004" "CNGA3_000044" "g.99013274C>A" "6/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685143" "0" "70" "2" "99013275" "99013275" "subst" "2.43845E-5" "00004" "CNGA3_000055" "g.99013275G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685144" "0" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00004" "CNGA3_000056" "g.99013302G>A" "13/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000703775" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00008" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Eksandh 2002:12187429}" "" "847C>T(R283W)" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000703776" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00008" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Eksandh 2002:12187429}" "" "R283W" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000703777" "2" "90" "2" "99012772" "99012772" "subst" "0" "00008" "CNGA3_000089" "g.99012772T>C" "" "{PMID:Eksandh 2002:12187429}" "" "F380S" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000703778" "1" "90" "2" "99006227" "99006227" "subst" "0" "00008" "CNGA3_000088" "g.99006227C>T" "" "{PMID:Eksandh 2002:12187429}" "" "556C>T(L186F)" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000703779" "2" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00008" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Eksandh 2002:12187429}" "" "829C>T(R277C)" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000703780" "1" "90" "2" "99013093" "99013093" "subst" "0" "00008" "CNGA3_000090" "g.99013093G>A" "" "{PMID:Eksandh 2002:12187429}" "" "1460G>A(W487X)" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704037" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00008" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Johnson 2004:14757870}" "" "Arg223Trp/?" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704038" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00008" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Johnson 2004:14757870}" "" "Arg223Trp/?" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704039" "1" "50" "2" "99012367" "99012367" "subst" "4.46697E-5" "00008" "CNGA3_000092" "g.99012367C>T" "" "{PMID:Johnson 2004:14757870}" "" "Thr245Met/?*" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000704041" "3" "90" "2" "99013275" "99013275" "subst" "2.43845E-5" "00008" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Johnson 2004:14757870}" "" "Gly548Arg/Gly548Arg" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704042" "3" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "00008" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Johnson 2004:14757870}" "" "Arg23Stop/Arg23Stop" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704043" "3" "90" "2" "99008346" "99008346" "subst" "4.06118E-6" "00008" "CNGA3_000091" "g.99008346C>T" "" "{PMID:Johnson 2004:14757870}" "" "Gln196Stop/Gln196Stop" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704044" "1" "90" "2" "99013076" "99013076" "dup" "0" "00008" "CNGA3_000093" "g.99013076dup" "" "{PMID:Johnson 2004:14757870}" "" "1443insC/Arg569His" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704045" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00008" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Johnson 2004:14757870}" "" "1443insC/Arg569His" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704046" "3" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00008" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Johnson 2004:14757870}" "" "Arg221Stop/Arg221Stop" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704049" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00008" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Johnson 2004:14757870}" "" "Arg436Trp/?" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704053" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00008" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Johnson 2004:14757870}" "" "Phe547Leu/Phe547Leu" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000704056" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00008" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Johnson 2004:14757870}" "" "Phe547Leu/Phe547Leu" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000708433" "2" "70" "2" "99012654" "99012654" "subst" "8.12163E-6" "00008" "CNGA3_000096" "g.99012654T>C" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.S341P" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708435" "2" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00008" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.R410W" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708436" "2" "70" "2" "99013401" "99013401" "subst" "4.06362E-6" "00008" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.E590K" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708437" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00008" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.R427C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000708438" "2" "70" "2" "99013401" "99013401" "subst" "4.06362E-6" "00008" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.E590K" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708440" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00008" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.R436W" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708441" "2" "30" "2" "99013328" "99013328" "subst" "3.65761E-5" "00008" "CNGA3_000100" "g.99013328G>A" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.T565T" "Isocoding" "Germline" "" "" "0" "" "" "" "" "likely benign (!)" ""
"0000708443" "2" "70" "2" "99012663" "99012663" "subst" "1.21831E-5" "00008" "CNGA3_000097" "g.99012663G>T" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.E344X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708446" "3" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00008" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.R277C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708447" "1" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00008" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.R223W" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708449" "1" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00008" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.R223W" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708450" "1" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00008" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.R223W" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708451" "1" "70" "2" "99012834" "99012834" "subst" "4.0797E-6" "00008" "CNGA3_000098" "g.99012834T>C" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.S401P" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000708454" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00008" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.V529M" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708457" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00008" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.V529M" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000708458" "1" "70" "2" "99013401" "99013401" "subst" "4.06362E-6" "00008" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.E590K" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708462" "1" "70" "2" "99012663" "99012663" "subst" "1.21831E-5" "00008" "CNGA3_000097" "g.99012663G>T" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.E344X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708464" "1" "70" "2" "99012420" "99012420" "subst" "0" "00008" "CNGA3_000095" "g.99012420T>G" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.Y263D" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708467" "3" "70" "2" "99012834" "99012834" "subst" "4.0797E-6" "00008" "CNGA3_000098" "g.99012834T>C" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.S401P" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000708473" "1" "70" "2" "99012379" "99012379" "subst" "0" "00008" "CNGA3_000094" "g.99012379T>C" "" "{PMID:Nishiguchi 2005:15712225}" "" "p.F249S" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000713322" "0" "90" "2" "99012600" "99012600" "subst" "5.685E-5" "00000" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Carss 2017:28041643}" "" "2:99012600G>C ENST00000393504.1:c.967G>C (Ala323Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713501" "0" "90" "2" "98994154" "98994157" "del" "0" "00000" "CNGA3_000101" "g.98994154_98994157del" "" "{PMID:Carss 2017:28041643}" "" "2:98994153CCACT>C ENST00000393504.1:c.107_110delACTC (His36ArgfsTer136)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713713" "0" "90" "2" "99013038" "99013038" "subst" "1.632E-5" "00000" "CNGA3_000105" "g.99013038G>A" "" "{PMID:Carss 2017:28041643}" "" "2:99013038G>A ENST00000393504.1:c.1405G>A (Ala469Thr)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713811" "0" "90" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Carss 2017:28041643}" "" "2:99013321G>A ENST00000393504.1:c.1688G>A (Arg563His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000714021" "3" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "00000" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic (recessive)" ""
"0000714022" "2" "70" "2" "99006156" "99006156" "subst" "9.74548E-5" "00000" "CNGA3_000102" "g.99006156A>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.98389693A>T" "" "likely pathogenic (recessive)" ""
"0000714060" "2" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic (recessive)" ""
"0000714073" "3" "70" "2" "99006231" "99006231" "subst" "0" "00000" "CNGA3_000103" "g.99006231T>C" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.98389768T>C" "" "likely pathogenic (recessive)" ""
"0000714090" "1" "70" "2" "99013443" "99013443" "subst" "4.07608E-6" "00000" "CNGA3_000106" "g.99013443C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.98396980C>T" "" "likely pathogenic (recessive)" ""
"0000714100" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic (recessive)" ""
"0000719099" "0" "70" "2" "98986401" "98986401" "subst" "0" "02330" "CNGA3_000078" "g.98986401G>C" "" "" "" "CNGA3(NM_001298.3):c.-37-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000719100" "0" "50" "2" "99013153" "99013153" "subst" "4.06961E-6" "01943" "CNGA3_000070" "g.99013153A>T" "" "" "" "CNGA3(NM_001298.2):c.1520A>T (p.D507V), CNGA3(NM_001298.3):c.1520A>T (p.D507V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000730311" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Matet 2018:29618791}" "" "" "" "Germline" "" "" "0" "" "" "g.98396476C>T" "" "pathogenic (recessive)" ""
"0000730312" "3" "90" "2" "99006135" "99006135" "del" "0" "00000" "CNGA3_000107" "g.99006135del" "" "{PMID:Matet 2018:29618791}" "" "c.464delA" "" "Germline" "" "" "0" "" "" "g.98389672del" "" "pathogenic (recessive)" ""
"0000730313" "3" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Matet 2018:29618791}" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>T" "" "pathogenic (recessive)" ""
"0000730314" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Matet 2018:29618791}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" ""
"0000730315" "3" "90" "2" "99006213" "99006213" "subst" "0" "00000" "CNGA3_000012" "g.99006213A>G" "" "{PMID:Matet 2018:29618791}" "" "" "" "Germline" "" "" "0" "" "" "g.98389750A>G" "" "pathogenic (recessive)" ""
"0000730316" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Matet 2018:29618791}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" ""
"0000730317" "1" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Matet 2018:29618791}" "" "" "" "Germline" "" "" "0" "" "" "g.98391958C>T" "" "pathogenic (recessive)" ""
"0000730318" "3" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Matet 2018:29618791}" "" "" "" "Germline" "" "" "0" "" "" "g.98396839G>A" "" "pathogenic (recessive)" ""
"0000730327" "2" "90" "2" "99012953" "99012953" "del" "0" "00000" "CNGA3_000108" "g.99012953del" "" "{PMID:Matet 2018:29618791}" "" "c.1320delG" "" "Germline" "" "" "0" "" "" "g.98396490del" "" "pathogenic (recessive)" ""
"0000730328" "2" "90" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Matet 2018:29618791}" "" "" "" "Germline" "" "" "0" "" "" "g.98396665C>T" "" "pathogenic (recessive)" ""
"0000730329" "2" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Matet 2018:29618791}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "pathogenic (recessive)" ""
"0000731329" "11" "70" "2" "99012895" "99012895" "del" "0" "00000" "CNGA3_000109" "g.99012895del" "" "{PMID:Rim 2017:29145603}" "" "1262delA" "" "Germline" "" "" "0" "" "" "g.98396432del" "" "likely pathogenic (recessive)" ""
"0000731344" "21" "70" "2" "99013275" "99013275" "subst" "2.43845E-5" "00000" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Rim 2017:29145603}" "" "" "" "Germline" "" "" "0" "" "" "g.98396812G>A" "" "likely pathogenic (recessive)" ""
"0000731434" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:DiIorio 2017:29053603}" "" "NM_001079878:c.1587C>A" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic (recessive)" ""
"0000731443" "3" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:DiIorio 2017:29053603}" "" "NM_001079878:c.1060C>T" "" "Germline" "" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic (recessive)" ""
"0000732443" "0" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Costa 2017:28912962}" "" "942C>A (Thr314Lys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000732463" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Costa 2017:28912962}" "" "943G>A (Asp315Asn)" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000732611" "0" "90" "2" "99013443" "99013443" "subst" "4.07608E-6" "00000" "CNGA3_000106" "g.99013443C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.98396980C>T" "" "pathogenic" ""
"0000733217" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000733218" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000733219" "1" "70" "2" "98986540" "98986540" "subst" "0.000266114" "00000" "CNGA3_000080" "g.98986540G>A" "" "{PMID:Stone 2017:28559085}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.98370077G>A" "" "likely pathogenic" ""
"0000733641" "2" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" ""
"0000733642" "2" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000733643" "2" "70" "2" "99012876" "99012876" "subst" "0" "00000" "CNGA3_000111" "g.99012876G>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.98396413G>C" "" "likely pathogenic" ""
"0000735606" "0" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "pathogenic" ""
"0000735607" "0" "90" "2" "99012943" "99012945" "delins" "0" "00000" "CNGA3_000040" "g.99012943_99012945delinsAG" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.98396480_98396482delinsAG" "" "pathogenic" ""
"0000735608" "0" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic" ""
"0000735728" "0" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "pathogenic" ""
"0000735729" "0" "90" "2" "99013190" "99013190" "subst" "4.88404E-5" "00000" "CNGA3_000071" "g.99013190G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.98396727G>A" "" "pathogenic" ""
"0000735730" "0" "90" "2" "99013190" "99013190" "subst" "4.88404E-5" "00000" "CNGA3_000071" "g.99013190G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.98396727G>A" "" "pathogenic" ""
"0000735828" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000759587" "1" "90" "2" "99013168" "99013168" "subst" "0" "00000" "CNGA3_000113" "g.99013168A>T" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.98396705A>T" "" "pathogenic" ""
"0000759588" "1" "90" "2" "98994155" "98994158" "del" "0" "00000" "CNGA3_000112" "g.98994155_98994158del" "" "{PMID:Carrigan 2016:27624628}" "" "107_110delACTC" "" "Germline" "" "" "0" "" "" "g.98377692_98377695del" "" "pathogenic" ""
"0000759614" "2" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Carrigan 2016:27624628}" "" "p.His36fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000759615" "2" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Carrigan 2016:27624628}" "" "p.Lys512Met" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000759984" "0" "50" "2" "99013251" "99013251" "subst" "0.00139811" "00000" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.98396788G>A" "" "VUS" ""
"0000760025" "0" "50" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "VUS" ""
"0000760137" "3" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000760142" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000760143" "0" "50" "2" "99013190" "99013190" "subst" "4.88404E-5" "00000" "CNGA3_000071" "g.99013190G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98396727G>A" "" "VUS" ""
"0000760151" "0" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000760171" "0" "70" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98396858G>A" "" "likely pathogenic" ""
"0000760309" "0" "50" "2" "98996670" "98996670" "subst" "4.06124E-6" "00000" "CNGA3_000114" "g.98996670G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98380207G>A" "" "VUS" ""
"0000760419" "0" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000760421" "0" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000760431" "0" "70" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98370042C>T" "" "likely pathogenic" ""
"0000760490" "0" "50" "2" "99013564" "99013564" "subst" "0" "00000" "CNGA3_000115" "g.99013564T>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.98397101T>C" "" "VUS" ""
"0000763894" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000763895" "1" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00006" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic (recessive)" ""
"0000763896" "1" "70" "2" "99012505" "99012506" "del" "0" "00006" "CNGA3_000125" "g.99012505_99012506del" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396042_98396043del" "" "likely pathogenic (recessive)" ""
"0000763897" "1" "70" "2" "99012466" "99012466" "subst" "4.0622E-6" "00006" "CNGA3_000124" "g.99012466T>C" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396003T>C" "" "likely pathogenic (recessive)" ""
"0000763898" "1" "70" "2" "98986500" "98986500" "subst" "2.0327E-5" "00006" "CNGA3_000058" "g.98986500C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98370037C>G" "" "likely pathogenic (recessive)" ""
"0000763899" "1" "70" "2" "99012598" "99012598" "subst" "0" "00006" "CNGA3_000126" "g.99012598T>C" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396135T>C" "" "likely pathogenic (recessive)" ""
"0000763900" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000763901" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000763902" "1" "70" "2" "99012622" "99012622" "subst" "0" "00006" "CNGA3_000127" "g.99012622T>C" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396159T>C" "" "likely pathogenic (recessive)" ""
"0000763903" "3" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00006" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic (recessive)" ""
"0000763904" "3" "70" "2" "99006183" "99006183" "subst" "0" "00006" "CNGA3_000117" "g.99006183G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98389720G>A" "" "likely pathogenic (recessive)" ""
"0000763905" "1" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00006" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic (recessive)" ""
"0000763906" "1" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00006" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic (recessive)" ""
"0000763907" "1" "70" "2" "99012643" "99012645" "delins" "0" "00006" "CNGA3_000129" "g.99012643_99012645delinsCAATCCCAGTG" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396180_98396182delinsCAATCCCAGTG" "" "likely pathogenic (recessive)" ""
"0000763908" "1" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00006" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic (recessive)" ""
"0000763909" "1" "70" "2" "98999840" "98999840" "subst" "0" "00006" "CNGA3_000116" "g.98999840C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98383377C>G" "" "likely pathogenic (recessive)" ""
"0000763910" "1" "70" "2" "98986500" "98986500" "subst" "2.0327E-5" "00006" "CNGA3_000058" "g.98986500C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98370037C>G" "" "likely pathogenic (recessive)" ""
"0000763911" "1" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00006" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic (recessive)" ""
"0000763912" "1" "70" "2" "99008428" "99008428" "subst" "4.88087E-5" "00006" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98391965G>A" "" "likely pathogenic (recessive)" ""
"0000763913" "3" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00006" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic (recessive)" ""
"0000763914" "1" "70" "2" "99012406" "99012406" "subst" "0" "00006" "CNGA3_000121" "g.99012406C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98395943C>G" "" "likely pathogenic (recessive)" ""
"0000763915" "1" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00006" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic (recessive)" ""
"0000763916" "1" "70" "2" "98986505" "98986505" "subst" "3.25346E-5" "00006" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98370042C>T" "" "likely pathogenic (recessive)" ""
"0000763917" "1" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00006" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic (recessive)" ""
"0000763918" "1" "70" "2" "99012454" "99012454" "subst" "0" "00006" "CNGA3_000123" "g.99012454G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98395991G>A" "" "likely pathogenic (recessive)" ""
"0000763919" "1" "70" "2" "99012622" "99012622" "subst" "0" "00006" "CNGA3_000127" "g.99012622T>C" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396159T>C" "" "likely pathogenic (recessive)" ""
"0000763920" "3" "70" "2" "98986500" "98986500" "subst" "2.0327E-5" "00006" "CNGA3_000058" "g.98986500C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98370037C>G" "" "likely pathogenic (recessive)" ""
"0000763921" "1" "70" "2" "98999840" "98999840" "subst" "0" "00006" "CNGA3_000116" "g.98999840C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98383377C>G" "" "likely pathogenic (recessive)" ""
"0000763922" "3" "70" "2" "98999840" "98999840" "subst" "0" "00006" "CNGA3_000116" "g.98999840C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98383377C>G" "" "likely pathogenic (recessive)" ""
"0000763923" "1" "70" "2" "99008431" "99008431" "subst" "0" "00006" "CNGA3_000119" "g.99008431C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98391968C>T" "" "likely pathogenic (recessive)" ""
"0000763924" "1" "70" "2" "99012779" "99012779" "dup" "0" "00006" "CNGA3_000131" "g.99012779dup" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396316dup" "" "likely pathogenic (recessive)" ""
"0000763925" "1" "70" "2" "99008431" "99008431" "subst" "0" "00006" "CNGA3_000119" "g.99008431C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98391968C>T" "" "likely pathogenic (recessive)" ""
"0000763926" "1" "70" "2" "99006184" "99006184" "subst" "4.06081E-6" "00006" "CNGA3_000061" "g.99006184G>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98389721G>T" "" "likely pathogenic (recessive)" ""
"0000763927" "1" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00006" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic (recessive)" ""
"0000763928" "1" "70" "2" "99012634" "99012634" "subst" "0" "00006" "CNGA3_000128" "g.99012634C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396171C>T" "" "likely pathogenic (recessive)" ""
"0000763929" "1" "70" "2" "99012948" "99012948" "subst" "2.03568E-5" "00006" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396485C>T" "" "likely pathogenic (recessive)" ""
"0000763930" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000763931" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00006" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic (recessive)" ""
"0000763932" "3" "70" "2" "99013230" "99013230" "subst" "8.13028E-6" "00006" "CNGA3_000137" "g.99013230G>C" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396767G>C" "" "likely pathogenic (recessive)" ""
"0000763933" "1" "70" "2" "98986500" "98986500" "subst" "2.0327E-5" "00006" "CNGA3_000058" "g.98986500C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98370037C>G" "" "likely pathogenic (recessive)" ""
"0000763934" "1" "70" "2" "99012505" "99012506" "del" "0" "00006" "CNGA3_000125" "g.99012505_99012506del" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396042_98396043del" "" "likely pathogenic (recessive)" ""
"0000763935" "1" "70" "2" "98999840" "98999840" "subst" "0" "00006" "CNGA3_000116" "g.98999840C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98383377C>G" "" "likely pathogenic (recessive)" ""
"0000763936" "1" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00006" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic (recessive)" ""
"0000763937" "3" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00006" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic (recessive)" ""
"0000763938" "1" "70" "2" "99006184" "99006184" "subst" "4.06081E-6" "00006" "CNGA3_000061" "g.99006184G>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98389721G>T" "" "likely pathogenic (recessive)" ""
"0000763939" "1" "70" "2" "98999840" "98999840" "subst" "0" "00006" "CNGA3_000116" "g.98999840C>G" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98383377C>G" "" "likely pathogenic (recessive)" ""
"0000763940" "1" "70" "2" "98999840" "98999840" "subst" "0" "00006" "CNGA3_000116" "g.98999840C>G" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98383377C>G" "" "likely pathogenic (recessive)" ""
"0000763941" "3" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00006" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic (recessive)" ""
"0000763942" "1" "70" "2" "99006183" "99006183" "subst" "0" "00006" "CNGA3_000117" "g.99006183G>A" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98389720G>A" "" "likely pathogenic (recessive)" ""
"0000763943" "1" "70" "2" "99013146" "99013146" "subst" "0" "00006" "CNGA3_000134" "g.99013146C>G" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396683C>G" "" "likely pathogenic (recessive)" ""
"0000763944" "1" "70" "2" "98999840" "98999840" "subst" "0" "00006" "CNGA3_000116" "g.98999840C>G" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98383377C>G" "" "likely pathogenic (recessive)" ""
"0000763945" "1" "70" "2" "98986500" "98986500" "subst" "2.0327E-5" "00006" "CNGA3_000058" "g.98986500C>G" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98370037C>G" "" "likely pathogenic (recessive)" ""
"0000763946" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00006" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic (recessive)" ""
"0000763974" "2" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00006" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic (recessive)" ""
"0000763975" "2" "70" "2" "99013608" "99013608" "subst" "0" "00006" "CNGA3_000141" "g.99013608A>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98397145A>T" "" "likely pathogenic (recessive)" ""
"0000763976" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00006" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic (recessive)" ""
"0000763977" "2" "70" "2" "99013401" "99013401" "subst" "4.06362E-6" "00006" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396938G>A" "" "likely pathogenic (recessive)" ""
"0000763978" "1" "70" "2" "99012940" "99012940" "subst" "4.48058E-5" "00006" "CNGA3_000132" "g.99012940G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396477G>A" "" "likely pathogenic (recessive)" ""
"0000763979" "2" "70" "2" "99012948" "99012948" "subst" "2.03568E-5" "00006" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396485C>T" "" "likely pathogenic (recessive)" ""
"0000763980" "2" "70" "2" "99012948" "99012948" "subst" "2.03568E-5" "00006" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396485C>T" "" "likely pathogenic (recessive)" ""
"0000763981" "2" "70" "2" "99013401" "99013401" "subst" "4.06362E-6" "00006" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396938G>A" "" "likely pathogenic (recessive)" ""
"0000763982" "2" "70" "2" "99013260" "99013268" "del" "0" "00006" "CNGA3_000138" "g.99013260_99013268del" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396797_98396805del" "" "likely pathogenic (recessive)" ""
"0000763983" "2" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00006" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic (recessive)" ""
"0000763984" "2" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00006" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic (recessive)" ""
"0000763985" "2" "70" "2" "99013401" "99013401" "subst" "4.06362E-6" "00006" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396938G>A" "" "likely pathogenic (recessive)" ""
"0000763986" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000763987" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00006" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic (recessive)" ""
"0000763988" "2" "70" "2" "99012749" "99012749" "dup" "0" "00006" "CNGA3_000130" "g.99012749dup" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396286dup" "" "likely pathogenic (recessive)" ""
"0000763989" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000763990" "2" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "00006" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98395948G>A" "" "likely pathogenic (recessive)" ""
"0000763991" "2" "70" "2" "99012948" "99012948" "subst" "2.03568E-5" "00006" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396485C>T" "" "likely pathogenic (recessive)" ""
"0000763992" "2" "70" "2" "99012466" "99012466" "subst" "4.0622E-6" "00006" "CNGA3_000124" "g.99012466T>C" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396003T>C" "" "likely pathogenic (recessive)" ""
"0000763993" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000763994" "2" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00006" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic (recessive)" ""
"0000763995" "2" "70" "2" "99012305" "99012305" "subst" "0" "00006" "CNGA3_000120" "g.99012305A>C" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98395842A>C" "" "likely pathogenic (recessive)" ""
"0000763996" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000763997" "2" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00006" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic (recessive)" ""
"0000763998" "2" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00006" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic (recessive)" ""
"0000763999" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000764000" "2" "70" "2" "99012948" "99012948" "subst" "2.03568E-5" "00006" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396485C>T" "" "likely pathogenic (recessive)" ""
"0000764001" "2" "70" "2" "99013260" "99013268" "del" "0" "00006" "CNGA3_000138" "g.99013260_99013268del" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396797_98396805del" "" "likely pathogenic (recessive)" ""
"0000764002" "2" "70" "2" "99013342" "99013342" "subst" "0" "00006" "CNGA3_000139" "g.99013342G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396879G>A" "" "likely pathogenic (recessive)" ""
"0000764003" "2" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00006" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic (recessive)" ""
"0000764004" "0" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000764005" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000764006" "2" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00006" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic (recessive)" ""
"0000764007" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000764008" "2" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00006" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic (recessive)" ""
"0000764009" "2" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00006" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic (recessive)" ""
"0000764010" "2" "70" "2" "99013260" "99013268" "del" "0" "00006" "CNGA3_000138" "g.99013260_99013268del" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396797_98396805del" "" "likely pathogenic (recessive)" ""
"0000764011" "2" "70" "2" "99013401" "99013401" "subst" "4.06362E-6" "00006" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396938G>A" "" "likely pathogenic (recessive)" ""
"0000764012" "2" "70" "2" "99013170" "99013170" "subst" "0" "00006" "CNGA3_000135" "g.99013170G>C" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396707G>C" "" "likely pathogenic (recessive)" ""
"0000764013" "2" "70" "2" "99013189" "99013189" "subst" "0" "00006" "CNGA3_000136" "g.99013189T>C" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396726T>C" "" "likely pathogenic (recessive)" ""
"0000764014" "2" "70" "2" "99013510" "99013510" "subst" "0" "00006" "CNGA3_000140" "g.99013510T>G" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98397047T>G" "" "likely pathogenic (recessive)" ""
"0000764015" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00006" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic (recessive)" ""
"0000764023" "2" "70" "2" "99012952" "99012952" "subst" "4.0704E-6" "00006" "CNGA3_000133" "g.99012952G>A" "" "{PMID:Li 2014:24903488}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.98396489G>A" "" "likely pathogenic (recessive)" ""
"0000764099" "3" "90" "2" "98994178" "98994199" "dup" "0" "04043" "CNGA3_000045" "g.98994178_98994199dup" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.98377715_98377736dup" "" "pathogenic (recessive)" ""
"0000765842" "0" "70" "2" "99013251" "99013251" "subst" "0.00139811" "00000" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.98396788G>A" "" "likely pathogenic" ""
"0000765858" "0" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic" ""
"0000765870" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "00000" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic" ""
"0000765893" "0" "70" "2" "99013683" "99013683" "subst" "8.20648E-6" "00000" "CNGA3_000143" "g.99013683G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.98397220G>A" "" "likely pathogenic" ""
"0000765902" "0" "70" "2" "99006227" "99006227" "subst" "0" "00000" "CNGA3_000088" "g.99006227C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.98389764C>T" "" "likely pathogenic" ""
"0000765928" "2" "70" "2" "99013206" "99013206" "subst" "0" "00000" "CNGA3_000142" "g.99013206G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.98396743G>A" "" "likely pathogenic" ""
"0000785366" "3" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00006" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Saqib 2015:25943428}, {DOI:Saqib 2015:10.1038/srep09965}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000785367" "3" "90" "2" "99012624" "99012624" "subst" "0" "00006" "CNGA3_000144" "g.99012624G>C" "" "{PMID:Saqib 2015:25943428}, {DOI:Saqib 2015:10.1038/srep09965}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000787754" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00006" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Duncker 2015:25283059}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000787755" "2" "90" "2" "99008428" "99008428" "subst" "4.88087E-5" "00006" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Duncker 2015:25283059}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000787762" "1" "90" "2" "99012984" "99012984" "dup" "0" "00000" "CNGA3_000146" "g.99012984dup" "" "{PMID:Dubis 2015:25277229}" "" "1351dupG" "" "Germline" "" "" "0" "" "" "g.98396521dup" "" "pathogenic (recessive)" ""
"0000787763" "1" "90" "2" "99013076" "99013076" "dup" "0" "00000" "CNGA3_000093" "g.99013076dup" "" "{PMID:Dubis 2015:25277229}" "" "1443_1444insC" "" "Germline" "" "" "0" "" "" "g.98396613dup" "" "pathogenic (recessive)" ""
"0000787764" "3" "90" "2" "99006207" "99006207" "subst" "0" "00000" "CNGA3_000145" "g.99006207T>A" "" "{PMID:Dubis 2015:25277229}" "" "" "" "Germline" "" "" "0" "" "" "g.98389744T>A" "" "pathogenic (recessive)" ""
"0000787765" "1" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Dubis 2015:25277229}" "" "" "" "Germline" "" "" "0" "" "" "g.98396018G>A" "" "pathogenic (recessive)" ""
"0000787771" "2" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Dubis 2015:25277229}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "pathogenic (recessive)" ""
"0000787772" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Dubis 2015:25277229}" "" "" "" "Germline" "" "" "0" "" "" "g.98396876G>A" "" "pathogenic (recessive)" ""
"0000787773" "2" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Dubis 2015:25277229}" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>T" "" "pathogenic (recessive)" ""
"0000788181" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic" ""
"0000788184" "1" "70" "2" "99013024" "99013024" "subst" "0" "00000" "CNGA3_000149" "g.99013024T>G" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98396561T>G" "" "likely pathogenic" ""
"0000788185" "1" "70" "2" "99013024" "99013024" "subst" "0" "00000" "CNGA3_000149" "g.99013024T>G" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98396561T>G" "" "likely pathogenic" ""
"0000788186" "1" "70" "2" "99012703" "99012703" "subst" "0" "00000" "CNGA3_000148" "g.99012703A>G" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98396240A>G" "" "likely pathogenic" ""
"0000788187" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic" ""
"0000788190" "1" "70" "2" "99008428" "99008428" "subst" "4.88087E-5" "00000" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98391965G>A" "" "likely pathogenic" ""
"0000788191" "1" "70" "2" "99008428" "99008428" "subst" "4.88087E-5" "00000" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98391965G>A" "" "likely pathogenic" ""
"0000788192" "2" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98396398C>T" "" "pathogenic" ""
"0000788193" "2" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic" ""
"0000788194" "2" "70" "2" "99013254" "99013254" "subst" "0" "00000" "CNGA3_000150" "g.99013254C>T" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98396791C>T" "" "likely pathogenic" ""
"0000788195" "2" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98396000G>A" "" "pathogenic" ""
"0000788196" "2" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic" ""
"0000788198" "2" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>T" "" "pathogenic" ""
"0000788199" "2" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Greenberg 2014:24504161}" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>T" "" "pathogenic" ""
"0000788332" "0" "50" "2" "99012501" "99012501" "subst" "2.84273E-5" "00000" "CNGA3_000147" "g.99012501C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C868T" "" "Germline" "" "" "0" "" "" "g.98396038C>T" "" "VUS" ""
"0000790902" "0" "70" "2" "99012315" "99012315" "subst" "0.00138165" "00000" "CNGA3_000016" "g.99012315G>A" "" "{PMID:Thiadens_2010:20079539}" "" "c.682G>A (p.E228K)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790903" "0" "70" "2" "99012429" "99012429" "subst" "0.000239592" "00000" "CNGA3_000152" "g.99012429G>A" "" "{PMID:Thiadens_2010:20079539}" "" "c.796G>A (p.V266M)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790906" "0" "70" "2" "99013489" "99013489" "subst" "1.63504E-5" "00000" "CNGA3_000154" "g.99013489C>T" "" "{PMID:Thiadens_2010:20079539}" "" "c.1856C>T (p.A619V)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790907" "0" "70" "2" "98996706" "98996706" "subst" "0.00012589" "00000" "CNGA3_000151" "g.98996706C>T" "" "{PMID:Thiadens_2010:20079539}" "" "c.284C>T (p.P95L)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790908" "0" "70" "2" "99013251" "99013251" "subst" "0.00139811" "00000" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Thiadens_2010:20079539}" "" "c.1618G>A (p.V540I)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790909" "0" "70" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Thiadens_2010:20079539}" "" "c.1694C>T (p.T565M)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790918" "0" "70" "2" "99013198" "99013198" "subst" "0" "00000" "CNGA3_000043" "g.99013198T>C" "" "{PMID:Thiadens_2009:19592100}" "" "c.1565T>C (p.I522T)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790919" "0" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Thiadens_2009:19592100}" "" "c.829C>T (p.R277C)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790920" "0" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Thiadens_2009:19592100}" "" "c.778G>A (p.D260N)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790926" "0" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Thiadens_2009:19592100}" "" "c.1641C>A (p.F547L)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790927" "0" "70" "2" "99013351" "99013351" "subst" "0" "00000" "CNGA3_000153" "g.99013351A>G" "" "{PMID:Thiadens_2009:19592100}" "" "c.1718A>G (p.Y573C)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790928" "0" "70" "2" "99006156" "99006156" "subst" "9.74548E-5" "00000" "CNGA3_000102" "g.99006156A>T" "" "{PMID:Thiadens_2009:19592100}" "" "c.485A>T (p.D162V)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000791141" "3" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "0,00025 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000791157" "21" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "0,00086 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000791158" "21" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "0,00086 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000791176" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "0,00049 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000791184" "21" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "0,00086 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000791205" "0" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "0,00086 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000791235" "21" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "0,00025 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000791245" "11" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000791246" "11" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000791253" "10" "70" "2" "99013012" "99013012" "subst" "0" "00000" "CNGA3_000155" "g.99013012T>C" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98396549T>C" "" "likely pathogenic" "ACMG"
"0000791264" "11" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "0,00049 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000791902" "3" "90" "2" "99012455" "99012455" "subst" "3.24923E-5" "00000" "CNGA3_000032" "g.99012455G>T" "" "{PMID:Azam 2010:20454696}" "" "c.822G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000791903" "3" "90" "2" "99012455" "99012455" "subst" "3.24923E-5" "00000" "CNGA3_000032" "g.99012455G>T" "" "{PMID:Azam 2010:20454696}" "" "c.822G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000791904" "3" "90" "2" "99012455" "99012455" "subst" "3.24923E-5" "00000" "CNGA3_000032" "g.99012455G>T" "" "{PMID:Azam 2010:20454696}" "" "c.822G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000791905" "3" "90" "2" "99012455" "99012455" "subst" "3.24923E-5" "00000" "CNGA3_000032" "g.99012455G>T" "" "{PMID:Azam 2010:20454696}" "" "c.822G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792331" "0" "70" "2" "99012462" "99012462" "subst" "0.000105615" "03508" "CNGA3_000033" "g.99012462C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000792332" "0" "70" "2" "99012634" "99012634" "subst" "0" "03508" "CNGA3_000128" "g.99012634C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794120" "3" "70" "2" "99012462" "99012462" "subst" "0.000105615" "03508" "CNGA3_000033" "g.99012462C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000794226" "0" "70" "2" "99012480" "99012480" "subst" "0.000105635" "03508" "CNGA3_000034" "g.99012480C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794227" "0" "70" "2" "99006224" "99006224" "subst" "4.06138E-6" "03508" "CNGA3_000085" "g.99006224C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794734" "3" "70" "2" "99006227" "99006227" "subst" "0" "00000" "CNGA3_000088" "g.99006227C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_001298.2:c.556C>T;p.(Leu186Phe)" "" "Germline" "yes" "" "0" "" "" "g.98389764C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000794808" "3" "70" "2" "98994210" "98994211" "ins" "4.0821E-6" "00000" "CNGA3_000156" "g.98994210_98994211insT" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001298, c.162_163insT, p.Arg55Ter" "" "Germline" "yes" "" "0" "" "" "g.98377747_98377748insT" "" "likely pathogenic" ""
"0000794809" "3" "70" "2" "98994210" "98994211" "ins" "4.0821E-6" "00000" "CNGA3_000156" "g.98994210_98994211insT" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001298, c.162_163insT, p.Arg55Ter" "" "Germline" "yes" "" "0" "" "" "g.98377747_98377748insT" "" "likely pathogenic" ""
"0000794826" "21" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001298, c.1228C>T, p.Arg410Trp" "" "Germline" "yes" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000794827" "11" "70" "2" "99012462" "99012462" "subst" "0" "00000" "CNGA3_000157" "g.99012462C>G" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001298, c.829C>G, p.Arg277Gly" "" "Germline" "yes" "" "0" "" "" "g.98395999C>G" "" "likely pathogenic" ""
"0000794828" "0" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001298, c.1228C>T, p.Arg410Trp" "" "Germline" "?" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000794829" "0" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001298, c.1706G>A, p.Arg569His" "" "Germline" "?" "" "0" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000794961" "3" "50" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.661C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000794962" "3" "50" "2" "99006159" "99006159" "subst" "1.62422E-5" "00000" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.488C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000795722" "3" "70" "2" "98986540" "98986540" "subst" "0.000266114" "00000" "CNGA3_000080" "g.98986540G>A" "" "{PMID:Abdelkader 2018:30289319}" "" "c.101+1G>A" "" "Germline" "?" "" "0" "" "" "g.98370077G>A" "" "likely pathogenic" ""
"0000795723" "3" "70" "2" "98986540" "98986540" "subst" "0.000266114" "00000" "CNGA3_000080" "g.98986540G>A" "" "{PMID:Abdelkader 2018:30289319}" "" "c.101+1G>A" "" "Germline" "?" "" "0" "" "" "g.98370077G>A" "" "likely pathogenic" ""
"0000795724" "3" "70" "2" "99012600" "99012600" "subst" "5.685E-5" "00000" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Abdelkader 2018:30289319}" "" "c.967G>C; p.(Ala323Pro)" "" "Germline" "yes" "" "0" "" "" "g.98396137G>C" "" "likely pathogenic" ""
"0000795725" "3" "70" "2" "98986540" "98986540" "subst" "0.000266114" "00000" "CNGA3_000080" "g.98986540G>A" "" "{PMID:Abdelkader 2018:30289319}" "" "c.101+1G>A" "" "Germline" "?" "" "0" "" "" "g.98370077G>A" "" "likely pathogenic" ""
"0000795727" "3" "70" "2" "98996818" "98996818" "subst" "0" "00000" "CNGA3_000158" "g.98996818G>T" "" "{PMID:Abdelkader 2018:30289319}" "" "c.395+1G>T" "" "Germline" "?" "" "0" "" "" "g.98380355G>T" "" "likely pathogenic" ""
"0000795728" "3" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Abdelkader 2018:30289319}" "" "c.661C>T; p.(Arg221*)" "" "Germline" "?" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic" ""
"0000795729" "3" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Abdelkader 2018:30289319}" "" "c.661C>T; p.(Arg221*)" "" "Germline" "?" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic" ""
"0000796079" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.1641C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796080" "0" "90" "2" "99013275" "99013275" "subst" "2.43845E-5" "00000" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.1642G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796081" "0" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.67C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796082" "3" "70" "2" "99006156" "99006156" "subst" "9.74548E-5" "00000" "CNGA3_000102" "g.99006156A>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.485A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796083" "3" "90" "2" "99006207" "99006207" "subst" "0" "00000" "CNGA3_000145" "g.99006207T>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.536T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796084" "0" "70" "2" "99012634" "99012634" "subst" "0" "00000" "CNGA3_000128" "g.99012634C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.1001C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796085" "0" "70" "2" "99012993" "99012993" "subst" "0" "00000" "CNGA3_000159" "g.99012993A>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.1360A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796086" "0" "90" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.1694C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796087" "0" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.661C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796088" "0" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.847C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796089" "0" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.1279C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796090" "0" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.848G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796091" "0" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.667C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796092" "0" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.848G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796093" "0" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.667C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796094" "3" "90" "2" "99012948" "99012948" "subst" "2.03568E-5" "00000" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.1315C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796095" "3" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.661C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796096" "0" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.848G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796097" "0" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.667C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796098" "0" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.661C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796099" "0" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.848G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796100" "0" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.848G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796101" "0" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.667C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796102" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.1641C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796103" "0" "90" "2" "99013076" "99013077" "ins" "0" "00000" "CNGA3_000160" "g.99013076_99013077insC" "" "{PMID:Sundaram_2014:24148654}" "" "c.1443-1444insC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796104" "0" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.1706G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796105" "0" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.661C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796106" "0" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Sundaram_2014:24148654}" "" "c.848G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796107" "3" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Sundaram_2014:24148654}" "" "c.67C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000797218" "0" "90" "2" "98986401" "98986401" "subst" "0" "00000" "CNGA3_000078" "g.98986401G>C" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[(R403Q)], CNGA3: c.[-37-1G>C];[=]" "" "Germline" "?" "" "0" "" "" "g.98369938G>C" "" "pathogenic" ""
"0000797219" "0" "90" "8" "99012502" "99012502" "subst" "0" "00000" "CNGA3_000066" "g.99012502G>A" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[(R403Q)], CNGA3: c.[869G>A];[=], p.[R290H];[=]" "" "Germline" "?" "" "0" "" "" "g.98396039G>A" "" "pathogenic" ""
"0000797220" "0" "90" "2" "99012502" "99012502" "subst" "0.000150279" "00000" "CNGA3_000066" "g.99012502G>A" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[(R403Q)], CNGA3: c.[869G>A];[=], p.[R290H];[=]" "" "Germline" "?" "" "0" "" "" "g.98396039G>A" "" "pathogenic" ""
"0000797221" "21" "90" "2" "99013410" "99013410" "subst" "1.21958E-5" "00000" "CNGA3_000165" "g.99013410G>A" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[(R403Q)], CNGA3: c.[1777G>A];[=], p.[E593K];[=], IMPG1: c.[378C>T];[=], p.[W126*];[=]" "" "Germline" "yes" "" "0" "" "" "g.98396947G>A" "" "pathogenic" ""
"0000797222" "0" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[R403Q], CNGA3: c.[829C>T];[=]" "" "Germline" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" ""
"0000797223" "10" "90" "2" "99012850" "99012850" "subst" "0" "00000" "CNGA3_000162" "g.99012850T>C" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1148delC];[1208G>A], p.[T383Ifs*13];[R403Q], CNGA3: c.[1217T>C];[=]" "" "Germline" "yes" "" "0" "" "" "g.98396387T>C" "" "pathogenic" ""
"0000797224" "11" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1148delC];[1208G>A], p.[R403Q];[T383Ifs*13], CNGA3: c.[667C>T];[=]" "" "Germline" "yes" "" "0" "" "" "g.98391964C>T" "" "pathogenic" ""
"0000797225" "0" "90" "2" "99012953" "99012953" "subst" "0" "00000" "CNGA3_000164" "g.99012953G>A" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1148delC];[1578+1G>A], p.[R403Q];[?] Splice defect, CNGA3: c.[1320G>A];[=]" "" "Germline" "yes" "" "0" "" "" "g.98396490G>A" "" "pathogenic" ""
"0000797226" "0" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[1148delC(;)1208G>A], p.[T383Ifs*13(;)R403Q], CNGA3: c.[1306C>T];[=]" "" "Germline" "?" "" "0" "" "" "g.98396476C>T" "" "pathogenic" ""
"0000797227" "11" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Burkhard 2018:30418171}" "" "CNGB3: c.[819_826del];[1208G>A], p.[R274Vfs*13];[R403Q], CNGA3: c.[1279C>T];[=]" "" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" ""
"0000797400" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Patel 2019:30653986}" "" "c.1641C-->A; p.Phe547Leu" "confirmed with Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000797401" "21" "70" "2" "99012889" "99012889" "subst" "0" "00000" "CNGA3_000163" "g.99012889C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1256C-->T, c.1642G-->A; p.Ser419Phe, p.Gly548Arg" "confirmed with Sanger sequencing; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396426C>T" "" "likely pathogenic" ""
"0000797402" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Patel 2019:30653986}" "" "c.1641C-->A; p.Phe547Leu" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000797403" "21" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1279C-->T, c.67C-->T; p.Arg427Cys, p.Arg23*" "confirmed with Sanger sequencing; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000797404" "0" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Patel 2019:30653986}" "" "c.829C-->T, c.945C-->G; p.Arg277Cys, p.His315Gln" "confirmed with Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000797448" "11" "70" "2" "99013275" "99013275" "subst" "2.43845E-5" "00000" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Patel 2019:30653986}" "" "c.1256C-->T, c.1642G-->A; p.Ser419Phe, p.Gly548Arg" "confirmed with Sanger sequencing; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396812G>A" "" "likely pathogenic" ""
"0000797449" "11" "70" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1279C-->T, c.67C-->T; p.Arg427Cys, p.Arg23*" "confirmed with Sanger sequencing; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98370042C>T" "" "likely pathogenic" ""
"0000797450" "0" "70" "2" "99012578" "99012578" "subst" "0" "00000" "CNGA3_000161" "g.99012578C>G" "" "{PMID:Patel 2019:30653986}" "" "c.829C-->T, c.945C-->G; p.Arg277Cys, p.His315Gln" "confirmed with Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.98396115C>G" "" "likely pathogenic" ""
"0000798424" "3" "50" "2" "99012455" "99012455" "subst" "3.24923E-5" "00000" "CNGA3_000032" "g.99012455G>T" "" "{PMID:Azam-2011:21987686}" "" "c.822G>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000800869" "0" "30" "2" "98994246" "98994246" "subst" "0.00149332" "01943" "CNGA3_000166" "g.98994246C>T" "" "" "" "CNGA3(NM_001298.2):c.198C>T (p.T66=), CNGA3(NM_001298.3):c.198C>T (p.T66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000811396" "3" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.1114C>T (p.Pro372Ser), Allele 2 c.1114C>T (p.Pro372Ser)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000811397" "0" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.1495C>T (p.Arg499*), Allele 2 c.967G>C (p.Ala323Pro)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" ""
"0000811398" "0" "70" "2" "99012600" "99012600" "subst" "5.685E-5" "00000" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.1495C>T (p.Arg499*), Allele 2 c.967G>C (p.Ala323Pro)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396137G>C" "" "likely pathogenic" ""
"0000811399" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.847C>T (p.Arg283Trp), Allele 2 c.847C>T (p.Arg283Trp)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000811400" "0" "70" "2" "99012823" "99012823" "subst" "0" "00000" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.847C>T (pArg283Trp), Allele 2 c.1190G>T (p.Gly397Val)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396360G>T" "" "likely pathogenic" ""
"0000811401" "0" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.847C>T (pArg283Trp), Allele 2 c.1190G>T (p.Gly397Val)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000811402" "3" "70" "2" "99013090" "99013090" "subst" "0" "00000" "CNGA3_000170" "g.99013090G>A" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.1457G>A p.(Cys486Tyr), Allele 2 c.1457G>A p.(Cys486Tyr)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396627G>A" "" "likely pathogenic" ""
"0000811503" "0" "50" "2" "99006224" "99006224" "subst" "4.06138E-6" "00000" "CNGA3_000085" "g.99006224C>G" "" "{PMID:Kim 2019:31496144}" "" "CNGA3 c.553C>G, p.L185V" "" "Germline" "?" "" "0" "" "" "g.98389761C>G" "" "VUS" "ACMG"
"0000811533" "0" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Kim 2019:31496144}" "" "CNGA3 c.848G>A, p.R283Q" "" "Germline" "?" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000812511" "3" "70" "2" "99012622" "99012622" "subst" "0" "00000" "CNGA3_000127" "g.99012622T>C" "" "{PMID:Wang 2019:31106028}" "" "c.989T>C, p.(Phe330Ser)" "Homozygous" "Germline" "?" "" "0" "" "" "g.98396159T>C" "" "likely pathogenic" ""
"0000812512" "3" "70" "2" "99006183" "99006183" "subst" "0" "00000" "CNGA3_000117" "g.99006183G>A" "" "{PMID:Wang 2019:31106028}" "" "c.512G>A, p.(Trp153*)" "different transcript anderror in annotation: NM_001079878.1(CNGA3)c.458G>A causes p.(Trp153*), Homozygous" "Germline" "?" "" "0" "" "" "g.98389720G>A" "" "likely pathogenic" ""
"0000812534" "0" "70" "2" "99006183" "99006183" "subst" "0" "00000" "CNGA3_000117" "g.99006183G>A" "" "{PMID:Wang 2019:31106028}" "" "c.512G>A, p.(Trp171*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98389720G>A" "" "likely pathogenic" ""
"0000812535" "0" "70" "2" "99013401" "99013401" "subst" "4.06362E-6" "00000" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1768G>A, p.(Glu590Lys)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396938G>A" "" "likely pathogenic" ""
"0000812606" "0" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00000" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1074G>A, p.(Trp358*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic" ""
"0000812607" "0" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Wang 2019:31106028}" "" "c.830G>A, p.(Arg277His)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000812628" "0" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Wang 2019:31106028}" "" "c.830G>A, p.(Arg277His)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000812629" "0" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Wang 2019:31106028}" "" "c.661C>T, p.(Arg221*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98391958C>T" "" "pathogenic" ""
"0000812677" "0" "70" "2" "99013146" "99013146" "subst" "0" "00000" "CNGA3_000134" "g.99013146C>G" "" "{PMID:Wang 2019:31106028}" "" "c.1513C>G, p.(Pro505Ala)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.98396683C>G" "" "likely pathogenic" ""
"0000812678" "0" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1306C>T, p.(Arg436Trp)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000812739" "3" "90" "2" "99013260" "99013268" "del" "0" "00000" "CNGA3_000138" "g.99013260_99013268del" "" "{PMID:Wang 2019:31106028}" "" "c.1627_1635del, p.(Asp543_Ser545del)" "Homozygous" "Germline" "?" "" "0" "" "" "g.98396797_98396805del" "" "pathogenic" ""
"0000812744" "0" "70" "2" "98986500" "98986500" "subst" "2.0327E-5" "00000" "CNGA3_000058" "g.98986500C>G" "" "{PMID:Wang 2019:31106028}" "" "c.62C>G, p.(Ser21*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98370037C>G" "" "likely pathogenic" ""
"0000812745" "0" "90" "2" "98994176" "98994176" "subst" "0" "00000" "CNGA3_000167" "g.98994176C>A" "" "{PMID:Wang 2019:31106028}" "" "c.128C>A, p.(Ser43*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98377713C>A" "" "pathogenic" ""
"0000812753" "0" "70" "2" "99012471" "99012471" "subst" "0" "00000" "CNGA3_000168" "g.99012471A>T" "" "{PMID:Wang 2019:31106028}" "" "c.838A>T, p.(Lys280*)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.98396008A>T" "" "likely pathogenic" ""
"0000812754" "0" "70" "2" "99012622" "99012622" "subst" "0" "00000" "CNGA3_000127" "g.99012622T>C" "" "{PMID:Wang 2019:31106028}" "" "c.989T>C, p.(Phe330Ser)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.98396159T>C" "" "likely pathogenic" ""
"0000812779" "0" "70" "2" "99012940" "99012940" "subst" "4.48058E-5" "00000" "CNGA3_000132" "g.99012940G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1307G>A, p.(Arg418Gln)" "different transcript anderror in annotation: NM_001079878.1(CNGA3)c.1253G>A causes p.(Arg418Gln), single heterozygous variant in a recessive gene" "Germline" "?" "" "0" "" "" "g.98396477G>A" "" "likely pathogenic" ""
"0000812783" "0" "70" "2" "99012622" "99012622" "subst" "0" "00000" "CNGA3_000127" "g.99012622T>C" "" "{PMID:Wang 2019:31106028}" "" "c.989T>C, p.(Phe330Ser)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396159T>C" "" "likely pathogenic" ""
"0000812784" "0" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00000" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1074G>A, p.(Trp358*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic" ""
"0000812844" "0" "90" "2" "98999840" "98999840" "subst" "0" "00000" "CNGA3_000116" "g.98999840C>G" "" "{PMID:Wang 2019:31106028}" "" "c.396-11C>G, p.?" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98383377C>G" "" "pathogenic" ""
"0000812845" "0" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1495C>T, p.(Arg481*)" "different transcript anderror in annotation: NM_001079878.1(CNGA3)c.1441C>T causes p.(Arg481*), compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" ""
"0000812849" "0" "90" "2" "99006183" "99006183" "subst" "0" "00000" "CNGA3_000117" "g.99006183G>A" "" "{PMID:Wang 2019:31106028}" "" "c.512G>A, p.(Trp171*)" "single heterozygous variant in a recessive gene" "Germline" "?" "" "0" "" "" "g.98389720G>A" "" "pathogenic" ""
"0000813898" "3" "70" "2" "99006231" "99006231" "subst" "0" "00000" "CNGA3_000103" "g.99006231T>C" "" "{PMID:Jiman 2020:31836858}" "" "CNGA3;NM_001298.2;c.[560T>C];[560T>C];p.[(Ile187Thr)];[(Ile187Thr)]" "homozygous" "Unknown" "?" "" "0" "" "" "g.98389768T>C" "" "likely pathogenic" ""
"0000815514" "0" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CNGA3:NM_001298 c.G1669A, p.G557R" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" "ACMG"
"0000815529" "0" "50" "2" "99013251" "99013251" "subst" "0.00139811" "00000" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CNGA3:NM_001298 c.G1618A, p.V540I" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.98396788G>A" "" "VUS" "ACMG"
"0000815564" "0" "70" "2" "99012913" "99012913" "subst" "2.03895E-5" "00000" "CNGA3_000172" "g.99012913G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CNGA3:NM_001298 c.G1280A, p.R427H" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.98396450G>A" "" "likely pathogenic" "ACMG"
"0000815571" "0" "50" "2" "99008376" "99008376" "subst" "0" "00000" "CNGA3_000171" "g.99008376C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CNGA3:NM_001298 c.C616A, p.L206M" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.98391913C>A" "" "VUS" "ACMG"
"0000816160" "0" "90" "2" "99012663" "99012663" "subst" "1.21831E-5" "00000" "CNGA3_000097" "g.99012663G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "CNGA3 c.1030G>T, p.Glu344Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396200G>T" "" "pathogenic" ""
"0000816464" "0" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.847C>T, p.Arg283Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" ""
"0000817646" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Zanolli 2020:32141364}" "" "CNGA3 c.847C>T; c.1981C>A" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000817647" "2" "70" "2" "99013614" "99013614" "subst" "0.0003421" "00000" "CNGA3_000173" "g.99013614C>A" "" "{PMID:Zanolli 2020:32141364}" "" "CNGA3 c.847C>T; c.1981C>A" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98397151C>A" "" "likely pathogenic" ""
"0000817648" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Zanolli 2020:32141364}" "" "CNGA3 c.847C>T; c.1981C>A" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000817649" "2" "70" "2" "99013614" "99013614" "subst" "0.0003421" "00000" "CNGA3_000173" "g.99013614C>A" "" "{PMID:Zanolli 2020:32141364}" "" "CNGA3 c.847C>T; c.1981C>A" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98397151C>A" "" "likely pathogenic" ""
"0000819323" "1" "70" "2" "99012505" "99012505" "subst" "0" "00000" "CNGA3_000177" "g.99012505C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.872C>G/p.T291R, variant 2: c.1641C>A/p.F547L" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396042C>G" "" "likely pathogenic" ""
"0000819324" "1" "70" "2" "99012505" "99012505" "subst" "0" "00000" "CNGA3_000177" "g.99012505C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.872C>G/p.T291R, variant 2: c.1641C>A/p.F547L" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396042C>G" "" "likely pathogenic" ""
"0000819834" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1641C>A/p.F547L, variant 2: c.778G>A/p.D260N" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000820307" "1" "70" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1694C>T/p.T565M, variant 2: c.1694C>T/p.T565M" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.98396864C>T" "" "likely pathogenic" ""
"0000820315" "1" "70" "2" "99008385" "99008385" "subst" "0" "00000" "CNGA3_000175" "g.99008385T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.625T>C/p.S209P, variant 2: c.625T>C/p.S209P" "possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.98391922T>C" "" "likely pathogenic" ""
"0000820332" "1" "70" "2" "99012539" "99012539" "subst" "4.06062E-6" "00000" "CNGA3_000178" "g.99012539G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.906G>T/p.R302S, variant 2: c.1319G>C/p.W440S" "possibly solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396076G>T" "" "likely pathogenic" ""
"0000820399" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1641C>A/p.F547L, variant 2: c.1682G>A/p.G561E" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000820426" "1" "70" "2" "99012315" "99012315" "subst" "0.00138165" "00000" "CNGA3_000016" "g.99012315G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1 :[c.682G>A/p.E228K; c.1315C>T/p.R439W], variant 2 :[c.682G>A/p.E228K; c.1315C>T/p.R439W]" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.98395852G>A" "" "likely pathogenic" ""
"0000820427" "1" "70" "2" "99012315" "99012315" "subst" "0.00138165" "00000" "CNGA3_000016" "g.99012315G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1 :[c.682G>A/p.E228K; c.1315C>T/p.R439W], variant 2 :[c.682G>A/p.E228K; c.1315C>T/p.R439W]" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.98395852G>A" "" "likely pathogenic" ""
"0000820432" "1" "70" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1688G>A/p.R563H, variant 2: c.1688G>A/p.R563H" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.98396858G>A" "" "likely pathogenic" ""
"0000820446" "1" "70" "2" "99006170" "99006170" "del" "0" "00000" "CNGA3_000174" "g.99006170del" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.499del/p.L167Cfs*6, variant 2: c.1669G>A/p.G557R" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98389707del" "" "likely pathogenic" ""
"0000820447" "1" "70" "2" "99006170" "99006170" "del" "0" "00000" "CNGA3_000174" "g.99006170del" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.499del/p.L167Cfs*6, variant 2: c.1669G>A/p.G557R" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98389707del" "" "likely pathogenic" ""
"0000820450" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.847C>T/p.R283W, variant 2: c.1669G>A/p.G557R" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000820458" "1" "70" "2" "99012888" "99012888" "subst" "0" "00000" "CNGA3_000180" "g.99012888T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1255T>C/p.S419P, variant 2: c.1641C>A/p.F547L" "possibly solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396425T>C" "" "likely pathogenic" ""
"0000820475" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1641C>A/p.F547L, variant 2: c.1641C>A/p.F547L" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000820503" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.848G>A/p.R283Q, variant 2: c.848G>A/p.R283Q" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000820531" "1" "70" "2" "99012337" "99012337" "subst" "0" "00000" "CNGA3_000176" "g.99012337A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.704A>T/p.D235V, variant 2: c.1706G>A/p.R569H" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98395874A>T" "" "likely pathogenic" ""
"0000820585" "1" "70" "2" "99008428" "99008428" "subst" "4.88087E-5" "00000" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.668G>A/p.R223Q, variant 2: c.1306C>T/p.R436W" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98391965G>A" "" "likely pathogenic" ""
"0000820588" "1" "70" "2" "99013443" "99013443" "subst" "4.07608E-6" "00000" "CNGA3_000106" "g.99013443C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1810C>T/p.Q604*, variant 2: c.1810C>T/p.Q604*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.98396980C>T" "" "likely pathogenic" ""
"0000820603" "1" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.572G>A/p.C191Y, variant 2: c.829C>T/p.R277C" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" ""
"0000820614" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.872C>G/p.T291R, variant 2: c.1641C>A/p.F547L" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000820615" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.872C>G/p.T291R, variant 2: c.1641C>A/p.F547L" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000820730" "1" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1641C>A/p.F547L, variant 2: c.778G>A/p.D260N" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98395948G>A" "" "likely pathogenic" ""
"0000820864" "1" "70" "2" "99012952" "99012952" "subst" "4.0704E-6" "00000" "CNGA3_000181" "g.99012952G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.906G>T/p.R302S, variant 2: c.1319G>C/p.W440S" "possibly solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396489G>C" "" "likely pathogenic" ""
"0000820898" "1" "70" "2" "99013315" "99013315" "subst" "0" "00000" "CNGA3_000182" "g.99013315G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1641C>A/p.F547L, variant 2: c.1682G>A/p.G561E" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98396852G>A" "" "likely pathogenic" ""
"0000820918" "1" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.499del/p.L167Cfs*6, variant 2: c.1669G>A/p.G557R" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000820919" "1" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.499del/p.L167Cfs*6, variant 2: c.1669G>A/p.G557R" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000820920" "1" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.847C>T/p.R283W, variant 2: c.1669G>A/p.G557R" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000820926" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.1255T>C/p.S419P, variant 2: c.1641C>A/p.F547L" "possibly solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000820958" "1" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.704A>T/p.D235V, variant 2: c.1706G>A/p.R569H" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000820988" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.668G>A/p.R223Q, variant 2: c.1306C>T/p.R436W" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000820991" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA3, variant 1: c.572G>A/p.C191Y, variant 2: c.829C>T/p.R277C" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000821213" "0" "70" "2" "99013038" "99013038" "subst" "1.632E-5" "00000" "CNGA3_000105" "g.99013038G>A" "" "{PMID:Turro 2020:32581362}" "" "CNGA3 c.1405G>A, p.Ala469Thr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396575G>A" "" "likely pathogenic" ""
"0000821214" "0" "70" "2" "98994155" "98994158" "del" "0" "00000" "CNGA3_000112" "g.98994155_98994158del" "" "{PMID:Turro 2020:32581362}" "" "CNGA3 c.107_110delACTC, p.His36ArgfsTer136" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98377692_98377695del" "" "likely pathogenic" ""
"0000821537" "0" "70" "2" "99012600" "99012600" "subst" "5.685E-5" "00000" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Turro 2020:32581362}" "" "CNGA3 c.967G>C, p.Ala323Pro" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396137G>C" "" "likely pathogenic" ""
"0000821538" "0" "70" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Turro 2020:32581362}" "" "CNGA3 c.1688G>A, p.Arg563His" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396858G>A" "" "likely pathogenic" ""
"0000822056" "3" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Habibi 2020:32641690}" "" "CNGA3 c.[1114C > T];[1114C > T], p.[P372S];[P372S]" "homozygous" "Germline" "?" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000822472" "0" "70" "2" "99012759" "99012759" "subst" "4.08067E-6" "00000" "CNGA3_000179" "g.99012759G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.1126G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822473" "0" "70" "2" "99013320" "99013320" "subst" "2.03196E-5" "00000" "CNGA3_000183" "g.99013320C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1687C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822973" "0" "70" "2" "99012600" "99012600" "subst" "5.685E-5" "00000" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Méjécase 2020:32783370}" "" "CNGA3 c.967G>C p.(Ala323Pro)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396137G>C" "" "likely pathogenic" ""
"0000822982" "0" "70" "2" "99013338" "99013338" "subst" "8.12671E-6" "00000" "CNGA3_000073" "g.99013338C>T" "" "{PMID:Méjécase 2020:32783370}" "" "CNGA3 c.170SC >T p.(Arg569Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396875C>T" "" "likely pathogenic" ""
"0000823251" "0" "70" "2" "99008384" "99008384" "subst" "0" "00000" "CNGA3_000188" "g.99008384C>G" "" "{PMID:Hull 2020:32856788}" "" "CNGA3 nucleotide 1, protein 1:c.624C>G , p.Tyr208* nucleotide 2, protein 2:c.1453G>T, p.Asp485Tyr" "heterozygous, ACMG classified, novel (Table 2)" "Germline" "?" "" "0" "" "" "g.98391921C>G" "" "likely pathogenic" "ACMG"
"0000823272" "0" "50" "2" "99013251" "99013251" "subst" "0.00139811" "00000" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Hull 2020:32856788}" "" "CNGA3 nucleotide 1, protein 1:c.1148delC, p.Thr383Ilefs*13 nucleotide 2, protein 2:c.1618>A:p., p.(Val540Ile)" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.98396788G>A" "" "VUS" ""
"0000823285" "0" "50" "2" "99013086" "99013086" "subst" "4.07116E-6" "00000" "CNGA3_000199" "g.99013086G>T" "" "{PMID:Hull 2020:32856788}" "" "CNGA3 nucleotide 1, protein 1:c.624C>G , p.Tyr208* nucleotide 2, protein 2:c.1453G>T, p.Asp485Tyr" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.98396623G>T" "" "VUS" ""
"0000823576" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Varsanyi 2005:16319819}" "" "C>T Phe547Leu" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" ""
"0000823577" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00006" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Varsanyi 2005:16319819}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" ""
"0000823578" "11" "90" "2" "99006159" "99006159" "subst" "1.62422E-5" "00006" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Varsanyi 2005:16319819}" "" "" "" "Germline" "" "" "0" "" "" "g.98389696C>T" "" "pathogenic (recessive)" ""
"0000823579" "11" "90" "2" "99006159" "99006159" "subst" "1.62422E-5" "00006" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Varsanyi 2005:16319819}" "" "" "" "Germline" "" "" "0" "" "" "g.98389696C>T" "" "pathogenic (recessive)" ""
"0000823580" "3" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00006" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Varsanyi 2005:16319819}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" ""
"0000823581" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Varsanyi 2005:16319819}" "" "C>T Phe547Leu" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" ""
"0000823588" "2" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Varsanyi 2005:16319819}" "" "C>T Phe547Leu" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" ""
"0000823589" "21" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00006" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Varsanyi 2005:16319819}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" ""
"0000823590" "21" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00006" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Varsanyi 2005:16319819}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" ""
"0000823595" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00006" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic (recessive)" ""
"0000823596" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00006" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic (recessive)" ""
"0000823597" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" ""
"0000823598" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00006" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic (recessive)" ""
"0000823599" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" ""
"0000823600" "3" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00006" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Germline" "" "" "0" "" "" "g.98396000G>A" "" "pathogenic (recessive)" ""
"0000823605" "2" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" ""
"0000823606" "2" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" ""
"0000823607" "2" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00006" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wawrocka 2014:25558176}" "" "" "" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" ""
"0000823702" "0" "50" "2" "99013251" "99013251" "subst" "0.00139811" "00006" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Langlo 2014:274798146}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000823703" "0" "90" "2" "99006184" "99006184" "subst" "8.12163E-6" "00006" "CNGA3_000184" "g.99006184G>A" "" "{PMID:Langlo 2014:274798146}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000823746" "0" "70" "2" "98986500" "98986500" "subst" "2.0327E-5" "00000" "CNGA3_000058" "g.98986500C>G" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.62C>G(;)128C>A" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98370037C>G" "" "likely pathogenic" ""
"0000823747" "0" "70" "2" "98994176" "98994176" "subst" "0" "00000" "CNGA3_000167" "g.98994176C>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.62C>G(;)128C>A" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98377713C>A" "" "likely pathogenic" ""
"0000823748" "1" "70" "2" "98986500" "98986500" "subst" "2.0327E-5" "00000" "CNGA3_000058" "g.98986500C>G" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[62C>G];[1585G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98370037C>G" "" "likely pathogenic" ""
"0000823749" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[62C>G];[1585G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000823750" "1" "70" "2" "99006135" "99006135" "del" "0" "00000" "CNGA3_000107" "g.99006135del" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[464del];[513G>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98389672del" "" "likely pathogenic" ""
"0000823751" "2" "70" "2" "99006184" "99006184" "subst" "4.06081E-6" "00000" "CNGA3_000061" "g.99006184G>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[464del];[513G>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98389721G>T" "" "likely pathogenic" ""
"0000823752" "1" "70" "2" "99006135" "99006135" "del" "0" "00000" "CNGA3_000107" "g.99006135del" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[464del];[1074G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98389672del" "" "likely pathogenic" ""
"0000823753" "2" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00000" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[464del];[1074G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic" ""
"0000823754" "1" "70" "2" "99006183" "99006183" "subst" "0" "00000" "CNGA3_000117" "g.99006183G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[512G>A];[1585G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98389720G>A" "" "likely pathogenic" ""
"0000823755" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[512G>A];[1585G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000823756" "1" "70" "2" "99006184" "99006184" "subst" "4.06081E-6" "00000" "CNGA3_000061" "g.99006184G>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[513G>T];[633T>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98389721G>T" "" "likely pathogenic" ""
"0000823757" "2" "70" "2" "99008393" "99008393" "subst" "4.06223E-6" "00000" "CNGA3_000189" "g.99008393T>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[513G>T];[633T>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98391930T>A" "" "likely pathogenic" ""
"0000823758" "0" "70" "2" "99006184" "99006184" "subst" "4.06081E-6" "00000" "CNGA3_000061" "g.99006184G>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.513G>T(;)1627_1635del" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98389721G>T" "" "likely pathogenic" ""
"0000823759" "0" "70" "2" "99013260" "99013268" "del" "0" "00000" "CNGA3_000138" "g.99013260_99013268del" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.513G>T(;)1627_1635del" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98396797_98396805del" "" "likely pathogenic" ""
"0000823760" "1" "70" "2" "99006213" "99006213" "subst" "0" "00000" "CNGA3_000012" "g.99006213A>G" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[542A>G];[1585G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98389750A>G" "" "likely pathogenic" ""
"0000823761" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[542A>G];[1585G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000823762" "1" "70" "2" "99008347" "99008347" "subst" "0" "00000" "CNGA3_000186" "g.99008347A>G" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[587A>G];[872_873del]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98391884A>G" "" "likely pathogenic" ""
"0000823763" "2" "70" "2" "99012505" "99012506" "del" "0" "00000" "CNGA3_000125" "g.99012505_99012506del" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[587A>G];[872_873del]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396042_98396043del" "" "likely pathogenic" ""
"0000823764" "0" "70" "2" "99008369" "99008369" "subst" "0" "00000" "CNGA3_000187" "g.99008369G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.609G>A(;)1039C>T" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98391906G>A" "" "likely pathogenic" ""
"0000823765" "0" "70" "2" "99012672" "99012672" "subst" "1.21834E-5" "00000" "CNGA3_000191" "g.99012672C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.609G>A(;)1039C>T" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98396209C>T" "" "likely pathogenic" ""
"0000823766" "1" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[661C>T];[830G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic" ""
"0000823767" "2" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[661C>T];[830G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000823768" "0" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.667C>T(;)1793T>G" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000823769" "0" "70" "2" "99013426" "99013426" "subst" "0" "00000" "CNGA3_000201" "g.99013426T>G" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.667C>T(;)1793T>G" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98396963T>G" "" "likely pathogenic" ""
"0000823770" "1" "70" "2" "99012305" "99012305" "subst" "0" "00000" "CNGA3_000120" "g.99012305A>C" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[674-2A>C];[1294G>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98395842A>C" "" "likely pathogenic" ""
"0000823771" "2" "70" "2" "99012927" "99012927" "subst" "0" "00000" "CNGA3_000196" "g.99012927G>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[674-2A>C];[1294G>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396464G>T" "" "likely pathogenic" ""
"0000823772" "1" "70" "2" "99012388" "99012388" "subst" "0" "00000" "CNGA3_000190" "g.99012388A>C" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[755A>C];[1306C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98395925A>C" "" "likely pathogenic" ""
"0000823773" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[755A>C];[1306C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000823774" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[829C>T];[847C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000823775" "2" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[829C>T];[847C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000823776" "0" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.829C>T(;)1315C>T" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000823777" "0" "70" "2" "99012948" "99012948" "subst" "2.03568E-5" "00000" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.829C>T(;)1315C>T" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98396485C>T" "" "likely pathogenic" ""
"0000823778" "1" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[830G>A];[1642G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000823779" "2" "70" "2" "99013275" "99013275" "subst" "2.43845E-5" "00000" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[830G>A];[1642G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396812G>A" "" "likely pathogenic" ""
"0000823780" "1" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[830G>A];[1709G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000823781" "2" "70" "2" "99013342" "99013342" "subst" "0" "00000" "CNGA3_000139" "g.99013342G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[830G>A];[1709G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396879G>A" "" "likely pathogenic" ""
"0000823782" "1" "70" "2" "99012466" "99012466" "subst" "4.0622E-6" "00000" "CNGA3_000124" "g.99012466T>C" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[833T>C];[1306C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396003T>C" "" "likely pathogenic" ""
"0000823783" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[833T>C];[1306C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000823784" "1" "70" "2" "99012466" "99012466" "subst" "4.0622E-6" "00000" "CNGA3_000124" "g.99012466T>C" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[833T>C];[1306C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396003T>C" "" "likely pathogenic" ""
"0000823785" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[833T>C];[1306C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000823786" "1" "70" "2" "99012585" "99012585" "subst" "1.21826E-5" "00000" "CNGA3_000004" "g.99012585G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[952G>A]; [1706G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396122G>A" "" "likely pathogenic" ""
"0000823787" "2" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[952G>A]; [1706G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000823788" "1" "70" "2" "99012672" "99012672" "subst" "1.21834E-5" "00000" "CNGA3_000191" "g.99012672C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1039C>T];[1319G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396209C>T" "" "likely pathogenic" ""
"0000823789" "2" "70" "2" "99012952" "99012952" "subst" "4.0704E-6" "00000" "CNGA3_000133" "g.99012952G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1039C>T];[1319G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396489G>A" "" "likely pathogenic" ""
"0000823790" "1" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00000" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1074G>A];[1074G>A]" "homozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic" ""
"0000823791" "1" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00000" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1074G>A];[1982G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic" ""
"0000823792" "2" "70" "2" "99013615" "99013615" "subst" "2.03613E-5" "00000" "CNGA3_000203" "g.99013615G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1074G>A];[1982G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98397152G>A" "" "likely pathogenic" ""
"0000823793" "1" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00000" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1074G>A];[1163G>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic" ""
"0000823794" "2" "70" "2" "99012796" "99012796" "subst" "0" "00000" "CNGA3_000193" "g.99012796G>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1074G>A];[1163G>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396333G>T" "" "likely pathogenic" ""
"0000823795" "1" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00000" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1074G>A];[1627_1635del]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic" ""
"0000823796" "2" "70" "2" "99013260" "99013268" "del" "0" "00000" "CNGA3_000138" "g.99013260_99013268del" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1074G>A];[1627_1635del]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396797_98396805del" "" "likely pathogenic" ""
"0000823797" "1" "70" "2" "99012749" "99012749" "dup" "0" "00000" "CNGA3_000130" "g.99012749dup" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1116dup];[1116dup]" "homozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396286dup" "" "likely pathogenic" ""
"0000823798" "1" "70" "2" "99012749" "99012749" "dup" "0" "00000" "CNGA3_000130" "g.99012749dup" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1116dup];[1811del]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396286dup" "" "likely pathogenic" ""
"0000823799" "2" "70" "2" "99013444" "99013444" "del" "0" "00000" "CNGA3_000202" "g.99013444del" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1116dup];[1811del]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396981del" "" "likely pathogenic" ""
"0000823800" "1" "70" "2" "99012757" "99012757" "subst" "0" "00000" "CNGA3_000192" "g.99012757A>G" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1124A>G];[1585G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396294A>G" "" "likely pathogenic" ""
"0000823801" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1124A>G];[1585G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000823802" "0" "70" "2" "99012796" "99012796" "subst" "0" "00000" "CNGA3_000194" "g.99012796G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.1163G>A(;)1585G>A" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98396333G>A" "" "likely pathogenic" ""
"0000823803" "0" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.1163G>A(;)1585G>A" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000823804" "0" "70" "2" "99012900" "99012900" "dup" "0" "00000" "CNGA3_000195" "g.99012900dup" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.1267dup(;)1306C>T" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98396437dup" "" "likely pathogenic" ""
"0000823805" "0" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.1267dup(;)1306C>T" "heterozygous; protein change not reported" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000823806" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1306C>T];[1306C>T]" "homozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000823807" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1306C>T];[1687C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000823808" "2" "70" "2" "99013320" "99013320" "subst" "2.03196E-5" "00000" "CNGA3_000183" "g.99013320C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1306C>T];[1687C>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396857C>T" "" "likely pathogenic" ""
"0000823809" "1" "70" "2" "99012948" "99012948" "subst" "2.03568E-5" "00000" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1315C>T];[1435A>G;1436A>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396485C>T" "" "likely pathogenic" ""
"0000823810" "2" "70" "2" "99013068" "99013068" "subst" "0" "00000" "CNGA3_000197" "g.99013068A>G" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1315C>T];[1435A>G;1436A>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396605A>G" "" "likely pathogenic" ""
"0000823811" "2" "70" "2" "99013069" "99013069" "subst" "0" "00000" "CNGA3_000198" "g.99013069A>T" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1315C>T];[1435A>G;1436A>T]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396606A>T" "" "likely pathogenic" ""
"0000823812" "1" "70" "2" "99013202" "99013210" "del" "0" "00000" "CNGA3_000200" "g.99013202_99013210del" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1569_1577del];[1569_1577del]" "homozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396739_98396747del" "" "likely pathogenic" ""
"0000823813" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1585G>A];[1585G>A]" "homozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000823814" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1585G>A];[1585G>A]" "homozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000823815" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Sun 2020:32913385}" "" "CNGA3 c.[1585G>A];[1585G>A]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000824111" "11" "30" "2" "99006129" "99006129" "subst" "0.00850314" "00000" "CNGA3_000185" "g.99006129C>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "CNGA3 c.458C>T, p.(Thr153Met)" "" "Germline" "yes" "" "0" "" "" "g.98389666C>T" "" "likely benign" "ACMG"
"0000824112" "11" "30" "2" "99006129" "99006129" "subst" "0.00850314" "00000" "CNGA3_000185" "g.99006129C>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "CNGA3 c.458C>T, p.(Thr153Met)" "" "Germline" "yes" "" "0" "" "" "g.98389666C>T" "" "likely benign" "ACMG"
"0000824121" "21" "70" "2" "99013038" "99013038" "subst" "1.632E-5" "00000" "CNGA3_000105" "g.99013038G>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "CNGA3 c.1405G>A, p.(Ala469Thr)" "" "Germline" "yes" "" "0" "" "" "g.98396575G>A" "" "likely pathogenic" "ACMG"
"0000824123" "21" "70" "2" "99013038" "99013038" "subst" "1.632E-5" "00000" "CNGA3_000105" "g.99013038G>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "CNGA3 c.1405G>A, p.(Ala469Thr)" "" "Germline" "yes" "" "0" "" "" "g.98396575G>A" "" "likely pathogenic" "ACMG"
"0000824149" "11" "30" "2" "99006129" "99006129" "subst" "0.00850314" "00000" "CNGA3_000185" "g.99006129C>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "CNGA3 c.458C>T, p.(Thr153Met)" "" "Germline" "yes" "" "0" "" "" "g.98389666C>T" "" "likely benign" "ACMG"
"0000824150" "11" "30" "2" "99006129" "99006129" "subst" "0.00850314" "00000" "CNGA3_000185" "g.99006129C>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "CNGA3 c.458C>T, p.(Thr153Met)" "" "Germline" "yes" "" "0" "" "" "g.98389666C>T" "" "likely benign" "ACMG"
"0000824159" "21" "70" "2" "99013038" "99013038" "subst" "1.632E-5" "00000" "CNGA3_000105" "g.99013038G>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "CNGA3 c.1405G>A, p.(Ala469Thr)" "" "Germline" "yes" "" "0" "" "" "g.98396575G>A" "" "likely pathogenic" "ACMG"
"0000824161" "21" "70" "2" "99013038" "99013038" "subst" "1.632E-5" "00000" "CNGA3_000105" "g.99013038G>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "CNGA3 c.1405G>A, p.(Ala469Thr)" "" "Germline" "yes" "" "0" "" "" "g.98396575G>A" "" "likely pathogenic" "ACMG"
"0000826458" "3" "50" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.1114C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826459" "3" "50" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.1114C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826460" "3" "50" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.1641C>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826461" "3" "50" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.1641C>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826462" "3" "50" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.1641C>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826463" "3" "50" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.1641C>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826464" "3" "90" "2" "99012795" "99012795" "subst" "0" "00000" "CNGA3_000205" "g.99012795G>A" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.1162G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000826465" "3" "90" "2" "99012795" "99012795" "subst" "0" "00000" "CNGA3_000205" "g.99012795G>A" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.1162G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000826466" "0" "50" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.667C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826467" "0" "50" "2" "99012693" "99012693" "subst" "0" "00000" "CNGA3_000204" "g.99012693T>C" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.1060T>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826468" "3" "50" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.847C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826469" "3" "50" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.847C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826470" "3" "50" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.847C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000826471" "3" "50" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Brunetti-Pierri_2021:33562422}" "" "c.847C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000829788" "3" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Dockery 2017:29099798}" "" "CNGA3 c.1228C>T, p.Arg410Trp" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, homozygous; missense mutations had to show segregation in pedigrees of at least 3 members, two of whom had to be affected." "Germline" "yes" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000831998" "1" "70" "2" "99006156" "99006156" "subst" "9.74548E-5" "00000" "CNGA3_000102" "g.99006156A>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: D162V/D260N" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98389693A>T" "" "likely pathogenic" ""
"0000831999" "3" "70" "2" "99006159" "99006159" "subst" "1.62422E-5" "00000" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: P163L/P163L" "homozygous" "Germline" "yes" "" "0" "" "" "g.98389696C>T" "" "likely pathogenic" ""
"0000832000" "1" "70" "2" "99006159" "99006159" "subst" "1.62422E-5" "00000" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: P163L/R436W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389696C>T" "" "likely pathogenic" ""
"0000832001" "1" "70" "2" "99006215" "99006215" "subst" "0" "00000" "CNGA3_000208" "g.99006215A>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: N182Y/F547L" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98389752A>T" "" "likely pathogenic" ""
"0000832002" "1" "70" "2" "99006227" "99006227" "subst" "0" "00000" "CNGA3_000088" "g.99006227C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: L186F/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389764C>T" "" "likely pathogenic" ""
"0000832003" "1" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: C191Y/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" ""
"0000832004" "1" "70" "2" "99012433" "99012433" "subst" "0" "00000" "CNGA3_000212" "g.99012433G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: G267D/Q655X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395970G>A" "" "likely pathogenic" ""
"0000832005" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832006" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/Y573C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832007" "3" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277H/R277H" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000832008" "3" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277H/R277H" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000832009" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/R283W" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832010" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/R283W" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832011" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/R283W" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832012" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}, {PMID:Andersen 2023:36980963}" "" "allele 1/2: R283W/R283W" "ACMG PM2_sup, PM5, PS4, PM3" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832013" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/P372S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832014" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/P372S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832015" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/F380S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832016" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: I312del/I312del" "error in annotation, incorrectly annotated as p.I312del whereas the last isoleucin should be used: p.I314del; homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832017" "1" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: I312del/D485V" "error in annotation, incorrectly annotated as p.I312del whereas the last isoleucin should be used: p.I314del; heterozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832018" "1" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: I312del/D485V" "error in annotation, incorrectly annotated as p.I312del whereas the last isoleucin should be used: p.I314del; heterozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832019" "0" "70" "2" "99012850" "99012850" "subst" "0" "00000" "CNGA3_000162" "g.99012850T>C" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: M406T/?" "single heterozygous variant in a recessive" "Unknown" "?" "" "0" "" "" "g.98396387T>C" "" "likely pathogenic" ""
"0000832020" "1" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R410W/V529M" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000832021" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R436W/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832022" "1" "70" "2" "99012953" "99012953" "subst" "0" "00000" "CNGA3_000164" "g.99012953G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: W440X/G516E" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396490G>A" "" "likely pathogenic" ""
"0000832023" "1" "70" "2" "99012953" "99012953" "subst" "0" "00000" "CNGA3_000164" "g.99012953G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: W440X/G516E" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396490G>A" "" "likely pathogenic" ""
"0000832024" "1" "70" "2" "99012953" "99012953" "subst" "0" "00000" "CNGA3_000164" "g.99012953G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: W440X/G516E" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396490G>A" "" "likely pathogenic" ""
"0000832025" "3" "70" "2" "99013162" "99013162" "subst" "4.07106E-6" "00000" "CNGA3_000222" "g.99013162G>C" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: C510S/C510S" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396699G>C" "" "likely pathogenic" ""
"0000832026" "1" "70" "2" "99013171" "99013171" "subst" "0" "00000" "CNGA3_000223" "g.99013171G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: G513E/R569H" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396708G>A" "" "likely pathogenic" ""
"0000832027" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: F547L/E194K" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832028" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: F547L/F547L" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832029" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: F547L/F547L" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832030" "0" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: F547L/?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832031" "3" "70" "2" "99006213" "99006213" "subst" "0" "00000" "CNGA3_000012" "g.99006213A>G" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: Y181C/Y181C" "homozygous" "Unknown" "?" "" "0" "" "" "g.98389750A>G" "" "likely pathogenic" ""
"0000832032" "3" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: C191Y/C191Y" "homozygous" "Germline" "yes" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" ""
"0000832033" "1" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R223W/S341P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000832034" "1" "70" "2" "99008431" "99008431" "subst" "0" "00000" "CNGA3_000211" "g.99008431C>G" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: T224R/T369S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391968C>G" "" "likely pathogenic" ""
"0000832035" "1" "70" "2" "99008431" "99008431" "subst" "0" "00000" "CNGA3_000211" "g.99008431C>G" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: T224R/T369S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391968C>G" "" "likely pathogenic" ""
"0000832036" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/R427C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832037" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/G557R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832038" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/R283W" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832039" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/R283W" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832040" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}, {PMID:Andersen 2023:36980963}" "" "allele 1/2: R283W/R563H" "ACMG PS4_strong, PM3_very strong, PM2_sup, PP3_moderate" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" "ACMG"
"0000832041" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/T565M" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832042" "1" "70" "2" "99012505" "99012505" "subst" "0" "00000" "CNGA3_000177" "g.99012505C>G" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: T291R/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396042C>G" "" "likely pathogenic" ""
"0000832043" "1" "70" "2" "99012505" "99012505" "subst" "0" "00000" "CNGA3_000177" "g.99012505C>G" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: T291R/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396042C>G" "" "likely pathogenic" ""
"0000832044" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R427C/R436W" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832045" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R427C/V451fs" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832046" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R436W/R563H" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832047" "0" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R436W/?" "single heterozygous variant in a recessive" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832048" "1" "70" "2" "99013198" "99013198" "subst" "0" "00000" "CNGA3_000043" "g.99013198T>C" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: I522T/F547L" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396735T>C" "" "likely pathogenic" ""
"0000832049" "1" "70" "2" "99013207" "99013207" "subst" "0" "00000" "CNGA3_000226" "g.99013207G>A" "" "{PMID:Wissinger 2001:11536077}, {PMID:Andersen 2023:36980963}" "" "allele 1/2: G525D/T565M" "ACMG PP3_strong, PS3_sup, PS4_sup, PM2_sup, PM3_sup" "Germline" "yes" "" "0" "" "" "g.98396744G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000832050" "0" "70" "2" "99013410" "99013410" "subst" "1.21958E-5" "00000" "CNGA3_000165" "g.99013410G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: E593K/?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396947G>A" "" "likely pathogenic" ""
"0000832051" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/R283W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832052" "0" "70" "2" "99013045" "99013045" "subst" "1.22285E-5" "00000" "CNGA3_000220" "g.99013045A>G" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: N471S/?" "single heterozygous variant in a recessive" "Unknown" "?" "" "0" "" "" "g.98396582A>G" "" "likely pathogenic" ""
"0000832053" "1" "70" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R563H/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396858G>A" "" "likely pathogenic" ""
"0000832054" "1" "70" "2" "98994196" "98994197" "ins" "0" "00000" "CNGA3_000206" "g.98994196_98994197insG" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: G49fs/W316X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98377733_98377734insG" "" "likely pathogenic" ""
"0000832055" "3" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R223W/R223W" "homozygous" "Germline" "yes" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000832056" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/R436W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832057" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/Q537X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832058" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283Q/G557R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832059" "0" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283Q/?" "single heterozygous variant in a recessive" "Unknown" "?" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832060" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/R283W" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832061" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/R283W" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832062" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/R283W" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832063" "3" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: P372S/P372S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000832064" "3" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R410W/R410W" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000832065" "2" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: D162V/D260N" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395948G>A" "" "likely pathogenic" ""
"0000832066" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: P163L/R436W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832067" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: N182Y/F547L" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832068" "2" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: L186F/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832069" "2" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: C191Y/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832070" "2" "70" "2" "99013596" "99013596" "subst" "0" "00000" "CNGA3_000230" "g.99013596C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: G267D/Q655X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98397133C>T" "" "likely pathogenic" ""
"0000832071" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832072" "2" "70" "2" "99013351" "99013351" "subst" "0" "00000" "CNGA3_000153" "g.99013351A>G" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/Y573C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396888A>G" "" "likely pathogenic" ""
"0000832073" "2" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/P372S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000832074" "2" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/P372S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000832075" "2" "70" "2" "99012772" "99012772" "subst" "0" "00000" "CNGA3_000089" "g.99012772T>C" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/F380S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396309T>C" "" "likely pathogenic" ""
"0000832076" "2" "70" "2" "99013087" "99013087" "subst" "0" "00000" "CNGA3_000221" "g.99013087A>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: I312del/D485V" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396624A>T" "" "likely pathogenic" ""
"0000832077" "2" "70" "2" "99013087" "99013087" "subst" "0" "00000" "CNGA3_000221" "g.99013087A>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: I312del/D485V" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396624A>T" "" "likely pathogenic" ""
"0000832078" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R410W/V529M" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832079" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R436W/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832080" "2" "70" "2" "99013180" "99013180" "subst" "0" "00000" "CNGA3_000225" "g.99013180G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: W440X/G516E" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396717G>A" "" "likely pathogenic" ""
"0000832081" "2" "70" "2" "99013180" "99013180" "subst" "0" "00000" "CNGA3_000225" "g.99013180G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: W440X/G516E" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396717G>A" "" "likely pathogenic" ""
"0000832082" "2" "70" "2" "99013180" "99013180" "subst" "0" "00000" "CNGA3_000225" "g.99013180G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: W440X/G516E" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396717G>A" "" "likely pathogenic" ""
"0000832083" "2" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: G513E/R569H" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000832084" "2" "70" "2" "99008340" "99008340" "subst" "0" "00000" "CNGA3_000209" "g.99008340G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: F547L/E194K" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391877G>A" "" "likely pathogenic" ""
"0000832085" "2" "70" "2" "99012654" "99012654" "subst" "8.12163E-6" "00000" "CNGA3_000096" "g.99012654T>C" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R223W/S341P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396191T>C" "" "likely pathogenic" ""
"0000832086" "2" "70" "2" "99012739" "99012739" "subst" "0" "00000" "CNGA3_000218" "g.99012739C>G" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: T224R/T369S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396276C>G" "" "likely pathogenic" ""
"0000832087" "2" "70" "2" "99012738" "99012738" "subst" "8.14671E-6" "00000" "CNGA3_000217" "g.99012738A>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: T224R/T369S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396275A>T" "" "likely pathogenic" ""
"0000832088" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/R427C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832089" "2" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/G557R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832090" "2" "90" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Wissinger 2001:11536077}, {PMID:Andersen 2023:36980963}" "" "R283W/R563H" "ACMG PS4, PM3_strong, PP3_strong, PM2_sup" "Germline" "yes" "" "0" "" "" "g.98396858G>A" "" "pathogenic (recessive)" ""
"0000832091" "2" "70" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283W/T565M" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396864C>T" "" "likely pathogenic" ""
"0000832092" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: T291R/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832093" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: T291R/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832094" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R427C/R436W" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832095" "2" "70" "2" "99012984" "99012984" "dup" "0" "00000" "CNGA3_000146" "g.99012984dup" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R427C/V451fs" "error in annotation, actual change should be c.1351dup and not 1350insG; heterozygous" "Germline" "yes" "" "0" "" "" "g.98396521dup" "" "likely pathogenic" ""
"0000832096" "2" "70" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R436W/R563H" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396858G>A" "" "likely pathogenic" ""
"0000832097" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: I522T/F547L" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832098" "2" "70" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Wissinger 2001:11536077}, {PMID:Andersen 2023:36980963}" "" "allele 1/2: G525D/T565M" "ACMG PM2, PS4, PM3, PS3_MOD" "Germline" "yes" "" "0" "" "" "g.98396864C>T" "" "likely pathogenic" "ACMG"
"0000832099" "2" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/R283W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832100" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R563H/F547L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832101" "2" "70" "2" "99012580" "99012580" "subst" "0" "00000" "CNGA3_000214" "g.99012580G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: G49fs/W316X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396117G>A" "" "likely pathogenic" ""
"0000832102" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/R436W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832103" "2" "70" "2" "99013242" "99013242" "subst" "0" "00000" "CNGA3_000228" "g.99013242C>T" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R277C/Q537X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396779C>T" "" "likely pathogenic" ""
"0000832104" "2" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Wissinger 2001:11536077}" "" "allele 1/2: R283Q/G557R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832118" "11" "70" "2" "99008431" "99008431" "subst" "0" "00000" "CNGA3_000211" "g.99008431C>G" "" "{PMID:Traenkner_2004:14715947}" "" "A3:T224R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391968C>G" "" "likely pathogenic" ""
"0000832119" "21" "70" "2" "99012739" "99012739" "subst" "0" "00000" "CNGA3_000218" "g.99012739C>G" "" "{PMID:Traenkner_2004:14715947}" "" "A3:T369S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396276C>G" "" "likely pathogenic" ""
"0000832120" "11" "70" "2" "99008431" "99008431" "subst" "0" "00000" "CNGA3_000211" "g.99008431C>G" "" "{PMID:Traenkner_2004:14715947}" "" "A3:T224R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391968C>G" "" "likely pathogenic" ""
"0000832121" "21" "70" "2" "99012739" "99012739" "subst" "0" "00000" "CNGA3_000218" "g.99012739C>G" "" "{PMID:Traenkner_2004:14715947}" "" "A3:T369S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396276C>G" "" "likely pathogenic" ""
"0000832123" "11" "90" "12" "99012939" "99012939" "subst" "0" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Goto-Omoto 2006:16961972}" "" "CNGA3 c.1306C>T, p.R436W" "" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" ""
"0000832124" "21" "90" "12" "99013531" "99013531" "subst" "0" "00000" "CNGA3_000040" "g.99013531T>C" "" "{PMID:Goto-Omoto 2006:16961972}" "" "CNGA3 c.1898T>C, p.L633P" "" "Germline" "yes" "" "0" "" "" "g.98397068T>C" "" "pathogenic" ""
"0000832137" "1" "70" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R23X/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98370042C>T" "" "likely pathogenic" ""
"0000832138" "1" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R223W/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000832139" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R277C/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832140" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R283W/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832141" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R283W/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832142" "1" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: I315(del)/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832143" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R436W/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832144" "1" "70" "2" "99012984" "99012984" "dup" "0" "00000" "CNGA3_000146" "g.99012984dup" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: V451(fs)/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396521dup" "" "likely pathogenic" ""
"0000832145" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R277C/R563C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832146" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R23X/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832147" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R223W/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832148" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R277C/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832149" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R283W/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832150" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R283W/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832151" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: I315(del)/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832152" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R436W/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832153" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: V451(fs)/R427C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832154" "2" "70" "2" "99013320" "99013320" "subst" "2.03196E-5" "00000" "CNGA3_000183" "g.99013320C>T" "" "{PMID:Koeppen 2008:18445228}" "" "CNGA3 allele 1/allele 2: R277C/R563C" "no cDNA annotation given, variant extrapolated from literature" "Germline" "yes" "" "0" "" "" "g.98396857C>T" "" "likely pathogenic" ""
"0000832319" "3" "70" "2" "99012315" "99012315" "subst" "0.00138165" "00000" "CNGA3_000016" "g.99012315G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: E228K/E228K" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395852G>A" "" "likely pathogenic" ""
"0000832320" "3" "70" "2" "99012315" "99012315" "subst" "0.00138165" "00000" "CNGA3_000016" "g.99012315G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: E228K/E228K" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395852G>A" "" "likely pathogenic" ""
"0000832321" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R283Q/R277H" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832322" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R283Q/L433W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832323" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R283Q/R436W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832324" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R283Q/R569H" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832325" "1" "70" "2" "99012948" "99012948" "subst" "2.03568E-5" "00000" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R439W/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396485C>T" "" "likely pathogenic" ""
"0000832326" "1" "70" "2" "99013038" "99013038" "subst" "1.632E-5" "00000" "CNGA3_000105" "g.99013038G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: A469T/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396575G>A" "" "likely pathogenic" ""
"0000832327" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R23X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832328" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/Vl60G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832329" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832330" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832331" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R283W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832332" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R283W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832333" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R283W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832334" "1" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/C319fsX" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832335" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/F547L" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832336" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/F547L" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832337" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/F547L" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832338" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/F547L" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832339" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/F547L" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832340" "1" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: G557R/A222P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832341" "1" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: G557R/R223G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832342" "1" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: G557R/V456fsX" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832343" "2" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R283Q/R277H" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000832344" "2" "70" "2" "99012931" "99012931" "subst" "0" "00000" "CNGA3_000219" "g.99012931T>G" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R283Q/L433W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396468T>G" "" "likely pathogenic" ""
"0000832345" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R283Q/R436W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832346" "2" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R283Q/R569H" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000832347" "2" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: R439W/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832348" "2" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: A469T/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832349" "2" "70" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R23X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98370042C>T" "" "likely pathogenic" ""
"0000832350" "2" "70" "2" "99006150" "99006150" "subst" "0" "00000" "CNGA3_000207" "g.99006150T>G" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/Vl60G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389687T>G" "" "likely pathogenic" ""
"0000832351" "2" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832352" "2" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R277C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832353" "2" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R283W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832354" "2" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R283W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832355" "2" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/R283W" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832356" "2" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: F547L/C319fsX" "heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" ""
"0000832357" "2" "70" "2" "99008424" "99008424" "subst" "0" "00000" "CNGA3_000210" "g.99008424G>C" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: G557R/A222P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391961G>C" "" "likely pathogenic" ""
"0000832358" "2" "70" "2" "99008427" "99008427" "subst" "3.25288E-5" "00000" "CNGA3_000046" "g.99008427C>G" "" "{PMID:Reuter 2008:18521937}" "" "allele 1/2: G557R/R223G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391964C>G" "" "likely pathogenic" ""
"0000832365" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Ahuja 2008:18636117}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832366" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Ahuja 2008:18636117}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832367" "1" "70" "2" "99012823" "99012823" "subst" "0" "00000" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Ahuja 2008:18636117}" "" "" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396360G>T" "" "likely pathogenic" ""
"0000832368" "3" "70" "2" "99012823" "99012823" "subst" "0" "00000" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Ahuja 2008:18636117}" "" "" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396360G>T" "" "likely pathogenic" ""
"0000832369" "3" "70" "2" "99012823" "99012823" "subst" "0" "00000" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Ahuja 2008:18636117}" "" "" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396360G>T" "" "likely pathogenic" ""
"0000832370" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Ahuja 2008:18636117}" "" "" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832371" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Ahuja 2008:18636117}" "" "" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832372" "2" "70" "2" "99012823" "99012823" "subst" "0" "00000" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Ahuja 2008:18636117}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396360G>T" "" "likely pathogenic" ""
"0000832373" "2" "70" "2" "99012823" "99012823" "subst" "0" "00000" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Ahuja 2008:18636117}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396360G>T" "" "likely pathogenic" ""
"0000832376" "1" "90" "2" "99012654" "99012654" "subst" "8.12163E-6" "00000" "CNGA3_000096" "g.99012654T>C" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: S341P/R277G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396191T>C" "" "pathogenic" ""
"0000832377" "3" "90" "2" "99012721" "99012721" "subst" "0" "00000" "CNGA3_000215" "g.99012721T>C" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: L363P/L363P" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396258T>C" "" "pathogenic" ""
"0000832378" "3" "90" "2" "99012721" "99012721" "subst" "0" "00000" "CNGA3_000215" "g.99012721T>C" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: L363P/L363P" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396258T>C" "" "pathogenic" ""
"0000832379" "3" "90" "2" "99012733" "99012733" "subst" "0" "00000" "CNGA3_000216" "g.99012733G>T" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: G367V/G367V" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396270G>T" "" "pathogenic" ""
"0000832380" "3" "90" "2" "99012733" "99012733" "subst" "0" "00000" "CNGA3_000216" "g.99012733G>T" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: G367V/G367V" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396270G>T" "" "pathogenic" ""
"0000832381" "3" "90" "2" "99012733" "99012733" "subst" "0" "00000" "CNGA3_000216" "g.99012733G>T" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: G367V/G367V" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396270G>T" "" "pathogenic" ""
"0000832382" "3" "90" "2" "99012733" "99012733" "subst" "0" "00000" "CNGA3_000216" "g.99012733G>T" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: G367V/G367V" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396270G>T" "" "pathogenic" ""
"0000832383" "3" "90" "2" "99012733" "99012733" "subst" "0" "00000" "CNGA3_000036" "g.99012733G>T" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: P372S/P372S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396270G>T" "" "pathogenic" ""
"0000832384" "3" "90" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: P372S/P372S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396284C>T" "" "pathogenic" ""
"0000832385" "3" "90" "2" "99012759" "99012759" "subst" "4.08067E-6" "00000" "CNGA3_000179" "g.99012759G>A" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: E376K/E376K" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396296G>A" "" "pathogenic" ""
"0000832386" "2" "70" "2" "99012462" "99012462" "subst" "0" "00000" "CNGA3_000157" "g.99012462C>G" "" "{PMID:Koeppen 2010:20506298}" "" "CNGA3 allele 1/allele 2: S341P/R277G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>G" "" "likely pathogenic" ""
"0000832405" "1" "70" "2" "99012703" "99012703" "subst" "0" "00000" "CNGA3_000148" "g.99012703A>G" "" "{PMID:Vincent 2011:21268679}" "" "c.1070 A > G (Tyr357Cys; novel)" "heterozygous" "Germline" "?" "" "0" "" "" "g.98396240A>G" "" "likely pathogenic" ""
"0000832406" "2" "70" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Vincent 2011:21268679}" "" "c.1694 C > T (Thr565Met)" "heterozygous" "Germline" "" "" "0" "" "" "g.98396864C>T" "" "likely pathogenic" ""
"0000832441" "1" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.661C>T - p.Arg221Stop, allele 2: c.830G>A - p.Arg277His" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic" ""
"0000832443" "3" "70" "2" "99013342" "99013342" "subst" "0" "00000" "CNGA3_000229" "g.99013342G>T" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.1709G>T - p.Ser570Ile, allele 2: c.1709G>T - p.Ser570Ile" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396879G>T" "" "likely pathogenic" ""
"0000832445" "1" "70" "2" "99012618" "99012618" "subst" "0" "00000" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.985G>T - p.Gly329Cys, allele 2: c.1306C>T - p.Arg436Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000832448" "1" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.1228C>T - p.Arg410Trp, allele 2: c.1541A>T - p.Asp514Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000832450" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.848G>A - p.Arg283Gln, allele 2: c.1306C>T - p.Arg436Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832451" "1" "70" "2" "99012618" "99012618" "subst" "0" "00000" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.985G>T - p.Gly329Cys, allele 2: c.1306C>T - p.Arg436Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000832452" "2" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.661C>T - p.Arg221Stop, allele 2: c.830G>A - p.Arg277His" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000832453" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.985G>T - p.Gly329Cys, allele 2: c.1306C>T - p.Arg436Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832454" "2" "70" "2" "99013174" "99013174" "subst" "0" "00000" "CNGA3_000224" "g.99013174A>T" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.1228C>T - p.Arg410Trp, allele 2: c.1541A>T - p.Asp514Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396711A>T" "" "likely pathogenic" ""
"0000832455" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.848G>A - p.Arg283Gln, allele 2: c.1306C>T - p.Arg436Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832456" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Genead 2011:21778272}" "" "allele 1: c.985G>T - p.Gly329Cys, allele 2: c.1306C>T - p.Arg436Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832457" "11" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Lam 2011:21911670}" "" "c.829C T p.R277C and c.1580T G p.L527R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832458" "21" "70" "2" "99013213" "99013213" "subst" "8.13504E-6" "00000" "CNGA3_000227" "g.99013213T>G" "" "{PMID:Lam 2011:21911670}" "" "c.829C T p.R277C and c.1580T G p.L527R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396750T>G" "" "likely pathogenic" ""
"0000832459" "11" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Lam 2011:21911670}" "" "c.829C T p.R277C and c.1580T G p.L527R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832460" "21" "70" "2" "99013213" "99013213" "subst" "8.13504E-6" "00000" "CNGA3_000227" "g.99013213T>G" "" "{PMID:Lam 2011:21911670}" "" "c.829C T p.R277C and c.1580T G p.L527R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396750T>G" "" "likely pathogenic" ""
"0000832510" "3" "70" "2" "99012460" "99012460" "subst" "0" "00000" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Saqib 2011:21912902}" "" "c.827A>G, p.N276S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395997A>G" "" "likely pathogenic" ""
"0000832511" "3" "70" "2" "99012460" "99012460" "subst" "0" "00000" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Saqib 2011:21912902}" "" "c.827A>G, p.N276S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395997A>G" "" "likely pathogenic" ""
"0000832512" "3" "70" "2" "99012460" "99012460" "subst" "0" "00000" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Saqib 2011:21912902}" "" "c.827A>G, p.N276S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395997A>G" "" "likely pathogenic" ""
"0000832513" "3" "70" "2" "99012460" "99012460" "subst" "0" "00000" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Saqib 2011:21912902}" "" "c.827A>G, p.N276S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395997A>G" "" "likely pathogenic" ""
"0000832514" "3" "70" "2" "99012460" "99012460" "subst" "0" "00000" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Saqib 2011:21912902}" "" "c.827A>G, p.N276S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395997A>G" "" "likely pathogenic" ""
"0000832515" "3" "70" "2" "99012460" "99012460" "subst" "0" "00000" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Saqib 2011:21912902}" "" "c.827A>G, p.N276S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395997A>G" "" "likely pathogenic" ""
"0000832516" "3" "70" "2" "99012460" "99012460" "subst" "0" "00000" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Saqib 2011:21912902}" "" "c.827A>G, p.N276S" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395997A>G" "" "likely pathogenic" ""
"0000832519" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Thomas 2012:22790432}" "" "allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832520" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Thomas 2012:22790432}" "" "allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832521" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Thomas 2012:22790432}" "" "allele 1: c.1641C>A, p.F547L, allele 2: c.1641C>A, p.F547L" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832523" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Thomas 2012:22790432}" "" "allele 1: c.1279C>T, p.R427C, allele 2: c.1706G>A, p.R569H" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832524" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Thomas 2012:22790432}" "" "allele 1: c.1279C>T, p.R427C, allele 2: c.1706G>A, p.R569H" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832526" "2" "70" "2" "98994155" "98994158" "del" "0" "00000" "CNGA3_000112" "g.98994155_98994158del" "" "{PMID:Thomas 2012:22790432}" "" "allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98377692_98377695del" "" "likely pathogenic" ""
"0000832527" "2" "70" "2" "98994155" "98994158" "del" "0" "00000" "CNGA3_000112" "g.98994155_98994158del" "" "{PMID:Thomas 2012:22790432}" "" "allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98377692_98377695del" "" "likely pathogenic" ""
"0000832529" "2" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Thomas 2012:22790432}" "" "allele 1: c.1279C>T, p.R427C, allele 2: c.1706G>A, p.R569H" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000832530" "2" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Thomas 2012:22790432}" "" "allele 1: c.1279C>T, p.R427C, allele 2: c.1706G>A, p.R569H" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000832532" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Fahim 2013:23972307}" "" "allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832533" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Fahim 2013:23972307}" "" "c.1279C>T (p.Arg427Cys) c.667C>T (p.Arg223Trp)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832534" "1" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Fahim 2013:23972307}" "" "c.667C>T (p.Arg223Trp) /c.1279C>T (p.Arg427Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000832535" "1" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Fahim 2013:23972307}" "" "c.667C>T (p.Arg223Trp) /c.1641C>A (p.Phe547Leu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000832536" "1" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Fahim 2013:23972307}" "" "c.667C>T (p.Arg223Trp) /c.1641C>A (p.Phe547Leu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000832543" "2" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Fahim 2013:23972307}" "" "c.1279C>T (p.Arg427Cys) c.667C>T (p.Arg223Trp)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000832544" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Fahim 2013:23972307}" "" "c.667C>T (p.Arg223Trp) /c.1279C>T (p.Arg427Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832545" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Fahim 2013:23972307}" "" "c.667C>T (p.Arg223Trp) /c.1641C>A (p.Phe547Leu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832546" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Fahim 2013:23972307}" "" "c.667C>T (p.Arg223Trp) /c.1641C>A (p.Phe547Leu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832550" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Burgueno-Montanes 2012:24269407}" "" "CNGA3 c.1279C>T, p.Arg427Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832551" "2" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Burgueno-Montanes 2012:24269407}" "" "CNGA3 c.1495C>T, p.Arg499stop" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" ""
"0000832555" "0" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Yang 2014:24676353}" "" "CNGA3 heterozygous p.D260N:c.778G>A; CNGB3 heterozygous c.1148delC, p.R403Q:c.1208G>A" "" "Unknown" "?" "" "0" "" "" "g.98395948G>A" "" "likely pathogenic" ""
"0000832556" "1" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Yang 2014:24676353}" "" "CNGA3 heterozygous c.940-942delATC, p.R661S:c.1981C>A" "" "Unknown" "?" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832559" "1" "70" "2" "99012703" "99012703" "subst" "0" "00000" "CNGA3_000148" "g.99012703A>G" "" "{PMID:Yang 2014:24676353}" "" "CNGA3 heterozygous p.Y357C:c.1070A>G, p.T565M:c.1694C>T" "" "Unknown" "?" "" "0" "" "" "g.98396240A>G" "" "likely pathogenic" ""
"0000832565" "2" "70" "2" "99013614" "99013614" "subst" "0.0003421" "00000" "CNGA3_000173" "g.99013614C>A" "" "{PMID:Yang 2014:24676353}" "" "CNGA3 heterozygous c.940-942delATC, p.R661S:c.1981C>A" "" "Unknown" "?" "" "0" "" "" "g.98397151C>A" "" "likely pathogenic" ""
"0000832566" "2" "70" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Yang 2014:24676353}" "" "CNGA3 heterozygous p.Y357C:c.1070A>G, p.T565M:c.1694C>T" "" "Unknown" "?" "" "0" "" "" "g.98396864C>T" "" "likely pathogenic" ""
"0000832570" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "00000" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Shaikh 2015:25052312}" "" "CNGA3 c.955T>C, p.(Cys319Arg)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic" ""
"0000832571" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "00000" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Shaikh 2015:25052312}" "" "CNGA3 c.955T>C, p.(Cys319Arg)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic" ""
"0000832572" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "00000" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Shaikh 2015:25052312}" "" "CNGA3 c.955T>C, p.(Cys319Arg)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic" ""
"0000832573" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "00000" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Shaikh 2015:25052312}" "" "CNGA3 c.955T>C, p.(Cys319Arg)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic" ""
"0000832577" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832578" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832579" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1642G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832580" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940 942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832581" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940 942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832582" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832583" "3" "70" "2" "98994178" "98994199" "dup" "0" "00000" "CNGA3_000045" "g.98994178_98994199dup" "" "{PMID:Zelinger 2015:25616768}y" "" "c.130_151dup22 / c.130 151dup22" "homozygous" "Germline" "yes" "" "0" "" "" "g.98377715_98377736dup" "" "likely pathogenic" ""
"0000832584" "3" "70" "2" "98994178" "98994199" "dup" "0" "00000" "CNGA3_000045" "g.98994178_98994199dup" "" "{PMID:Zelinger 2015:25616768}y" "" "c.130_151dup22 / c.130 151dup22" "homozygous" "Germline" "yes" "" "0" "" "" "g.98377715_98377736dup" "" "likely pathogenic" ""
"0000832585" "3" "70" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.67C>T I c.67C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98370042C>T" "" "likely pathogenic" ""
"0000832586" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832587" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832588" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940_942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832589" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.829C>T I c.985G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832590" "1" "70" "2" "99012618" "99012618" "subst" "0" "00000" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.985G>T I c.811C>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000832591" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832592" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832593" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832594" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940 942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832595" "3" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1114C>T I c.1114C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000832596" "3" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1114C>T I c.1114C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000832597" "1" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.1640T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832598" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832599" "1" "70" "2" "99012537" "99012537" "subst" "0" "00000" "CNGA3_000049" "g.99012537A>G" "" "{PMID:Zelinger 2015:25616768}y" "" "c.904A>G I c.1640T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396074A>G" "" "likely pathogenic" ""
"0000832600" "1" "70" "2" "99012537" "99012537" "subst" "0" "00000" "CNGA3_000049" "g.99012537A>G" "" "{PMID:Zelinger 2015:25616768}y" "" "c.904A>G I c.1585G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396074A>G" "" "likely pathogenic" ""
"0000832601" "1" "70" "2" "99012537" "99012537" "subst" "0" "00000" "CNGA3_000049" "g.99012537A>G" "" "{PMID:Zelinger 2015:25616768}y" "" "c.904A>G I c.1640T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396074A>G" "" "likely pathogenic" ""
"0000832602" "1" "70" "2" "99013273" "99013273" "subst" "0" "00000" "CNGA3_000054" "g.99013273T>G" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1640T>G I c.1585G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396810T>G" "" "likely pathogenic" ""
"0000832603" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1294delG" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832604" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1294delG" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832605" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940 942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832606" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940_942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832607" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.940_942delATC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832608" "3" "70" "2" "99012618" "99012618" "subst" "0" "00000" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.985G>T I c.985G>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000832609" "3" "70" "2" "99012618" "99012618" "subst" "0" "00000" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.985G>T I c.985G>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000832610" "1" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.830G>A I c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000832611" "1" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.830G>A I c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000832612" "3" "70" "2" "98994178" "98994199" "dup" "0" "00000" "CNGA3_000045" "g.98994178_98994199dup" "" "{PMID:Zelinger 2015:25616768}y" "" "c.130_151dup22 I c.130 151dup22" "homozygous" "Germline" "yes" "" "0" "" "" "g.98377715_98377736dup" "" "likely pathogenic" ""
"0000832613" "3" "70" "2" "98994178" "98994199" "dup" "0" "00000" "CNGA3_000045" "g.98994178_98994199dup" "" "{PMID:Zelinger 2015:25616768}y" "" "c.130_151dup22 I c.130 151dup22" "homozygous" "Germline" "yes" "" "0" "" "" "g.98377715_98377736dup" "" "likely pathogenic" ""
"0000832614" "3" "70" "2" "98994178" "98994199" "dup" "0" "00000" "CNGA3_000045" "g.98994178_98994199dup" "" "{PMID:Zelinger 2015:25616768}y" "" "c.130_151dup22 I c.130 151dup22" "homozygous" "Germline" "yes" "" "0" "" "" "g.98377715_98377736dup" "" "likely pathogenic" ""
"0000832615" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832616" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832617" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940 942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832618" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940_942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832619" "3" "70" "2" "98994178" "98994199" "dup" "0" "00000" "CNGA3_000045" "g.98994178_98994199dup" "" "{PMID:Zelinger 2015:25616768}y" "" "c.130_151dup22 I c.130_151dup22" "homozygous" "Germline" "yes" "" "0" "" "" "g.98377715_98377736dup" "" "likely pathogenic" ""
"0000832620" "3" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.829C>T I c.829C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832621" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940 942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832622" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940 942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832623" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832624" "3" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.940 942delATC" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832625" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832626" "3" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832627" "3" "70" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.67C>T I c.67C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98370042C>T" "" "likely pathogenic" ""
"0000832628" "3" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1669G>A I c.1669G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832629" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A/c.1585G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832630" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.847C>T I c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832631" "1" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.847C>T I c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832632" "1" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1585G>A I c.940_942delATC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832633" "3" "70" "2" "99012759" "99012759" "subst" "4.08067E-6" "00000" "CNGA3_000179" "g.99012759G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1126G>A I c.1126G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396296G>A" "" "likely pathogenic" ""
"0000832634" "3" "70" "2" "99012759" "99012759" "subst" "4.08067E-6" "00000" "CNGA3_000179" "g.99012759G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1126G>A I c.1126G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396296G>A" "" "likely pathogenic" ""
"0000832635" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.848G>A I c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832636" "1" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.1454A>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832637" "1" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}y" "" "c.940_942delATC I c.1454A>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832638" "3" "70" "2" "99012759" "99012759" "subst" "4.08067E-6" "00000" "CNGA3_000179" "g.99012759G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1126G>A I c.1126G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396296G>A" "" "likely pathogenic" ""
"0000832639" "3" "70" "2" "99012759" "99012759" "subst" "4.08067E-6" "00000" "CNGA3_000179" "g.99012759G>A" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1126G>A I c.1126G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396296G>A" "" "likely pathogenic" ""
"0000832640" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.829C>T I c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832641" "1" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1114C>T I c.1981C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000832642" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.829C>T I c.778G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832643" "1" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Zelinger 2015:25616768}y" "" "c.1279C>T I c.1350insG" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832644" "2" "70" "2" "99013275" "99013275" "subst" "2.43845E-5" "00000" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Zelinger 2015:25616768}" "" "c.1585G>A I c.1642G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396812G>A" "" "likely pathogenic" ""
"0000832645" "2" "70" "2" "99012618" "99012618" "subst" "0" "00000" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Zelinger 2015:25616768}" "" "c.829C>T I c.985G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000832646" "2" "70" "2" "99012444" "99012444" "subst" "0.000121831" "00000" "CNGA3_000047" "g.99012444C>G" "" "{PMID:Zelinger 2015:25616768}" "" "c.985G>T I c.811C>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395981C>G" "" "likely pathogenic" ""
"0000832647" "2" "70" "2" "99013273" "99013273" "subst" "0" "00000" "CNGA3_000054" "g.99013273T>G" "" "{PMID:Zelinger 2015:25616768}" "" "c.940_942delATC I c.1640T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396810T>G" "" "likely pathogenic" ""
"0000832648" "2" "70" "2" "99013273" "99013273" "subst" "0" "00000" "CNGA3_000054" "g.99013273T>G" "" "{PMID:Zelinger 2015:25616768}" "" "c.904A>G I c.1640T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396810T>G" "" "likely pathogenic" ""
"0000832649" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}" "" "c.904A>G I c.1585G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832650" "2" "70" "2" "99013273" "99013273" "subst" "0" "00000" "CNGA3_000054" "g.99013273T>G" "" "{PMID:Zelinger 2015:25616768}" "" "c.904A>G I c.1640T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396810T>G" "" "likely pathogenic" ""
"0000832651" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Zelinger 2015:25616768}" "" "c.1640T>G I c.1585G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832652" "2" "70" "2" "99012927" "99012927" "del" "0" "00000" "CNGA3_000052" "g.99012927del" "" "{PMID:Zelinger 2015:25616768}" "" "c.1585G>A I c.1294delG" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396464del" "" "likely pathogenic" ""
"0000832653" "2" "70" "2" "99012927" "99012927" "del" "0" "00000" "CNGA3_000052" "g.99012927del" "" "{PMID:Zelinger 2015:25616768}" "" "c.1585G>A I c.1294delG" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396464del" "" "likely pathogenic" ""
"0000832654" "2" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}" "" "c.1585G>A I c.940_942delATC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832655" "2" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Zelinger 2015:25616768}" "" "c.830G>A I c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832656" "2" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Zelinger 2015:25616768}" "" "c.830G>A I c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832657" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Zelinger 2015:25616768}" "" "c.847C>T I c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832658" "2" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Zelinger 2015:25616768}" "" "c.847C>T I c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832659" "2" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Zelinger 2015:25616768}" "" "c.1585G>A I c.940_942delATC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832660" "2" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Zelinger 2015:25616768}" "" "c.848G>A I c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832661" "2" "70" "2" "99013087" "99013087" "subst" "0" "00000" "CNGA3_000221" "g.99013087A>T" "" "{PMID:Zelinger 2015:25616768}" "" "c.940_942delATC I c.1454A>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396624A>T" "" "likely pathogenic" ""
"0000832662" "2" "70" "2" "99013087" "99013087" "subst" "0" "00000" "CNGA3_000221" "g.99013087A>T" "" "{PMID:Zelinger 2015:25616768}" "" "c.940_942delATC I c.1454A>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396624A>T" "" "likely pathogenic" ""
"0000832663" "2" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Zelinger 2015:25616768}" "" "c.829C>T I c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832664" "2" "70" "2" "99013614" "99013614" "subst" "0.0003421" "00000" "CNGA3_000173" "g.99013614C>A" "" "{PMID:Zelinger 2015:25616768}" "" "c.1114C>T I c.1981C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98397151C>A" "" "likely pathogenic" ""
"0000832665" "2" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Zelinger 2015:25616768}" "" "c.829C>T I c.778G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395948G>A" "" "likely pathogenic" ""
"0000832666" "2" "70" "2" "99012984" "99012984" "dup" "0" "00000" "CNGA3_000146" "g.99012984dup" "" "{PMID:Zelinger 2015:25616768}" "" "c.1279C>T I c.1350insG" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396521dup" "" "likely pathogenic" ""
"0000832675" "1" "70" "2" "98986478" "98986478" "del" "0" "00000" "CNGA3_000232" "g.98986478del" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.40delA, T14Pfsx4" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98370015del" "" "likely pathogenic" ""
"0000832676" "1" "70" "2" "99012691" "99012691" "subst" "0" "00000" "CNGA3_000238" "g.99012691T>C" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.1058T>C, p.I353T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396228T>C" "" "likely pathogenic" ""
"0000832677" "1" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.778G>A, p.D260N*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395948G>A" "" "likely pathogenic" ""
"0000832678" "1" "70" "2" "99006184" "99006184" "subst" "4.06081E-6" "00000" "CNGA3_000061" "g.99006184G>T" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.513G>T, p.W171C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389721G>T" "" "likely pathogenic" ""
"0000832679" "3" "70" "2" "99008393" "99008393" "subst" "4.06223E-6" "00000" "CNGA3_000189" "g.99008393T>A" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.633T>A, p.D211E" "homozygous" "Germline" "yes" "" "0" "" "" "g.98391930T>A" "" "likely pathogenic" ""
"0000832680" "1" "70" "2" "99008393" "99008393" "subst" "4.06223E-6" "00000" "CNGA3_000189" "g.99008393T>A" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.633T>A, p.D211E" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391930T>A" "" "likely pathogenic" ""
"0000832681" "1" "70" "2" "98986500" "98986500" "subst" "2.0327E-5" "00000" "CNGA3_000058" "g.98986500C>G" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.62C>G, p.S31X" "error in annotation: should be S21X and not S31X; heterozygous" "Germline" "yes" "" "0" "" "" "g.98370037C>G" "" "likely pathogenic" ""
"0000832682" "1" "70" "2" "99008346" "99008346" "subst" "4.06118E-6" "00000" "CNGA3_000091" "g.99008346C>T" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.586C>T, p.Q196X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391883C>T" "" "likely pathogenic" ""
"0000832683" "2" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.847C>T, p.R283W*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832684" "2" "70" "2" "99012762" "99012764" "del" "0" "00000" "CNGA3_000239" "g.99012762_99012764del" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.1129_1131delGAG, p.E377del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396299_98396301del" "" "likely pathogenic" ""
"0000832685" "2" "70" "2" "99013275" "99013275" "subst" "2.43845E-5" "00000" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.1642G>A, p.G548R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396812G>A" "" "likely pathogenic" ""
"0000832686" "2" "70" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.830G>A, p.R277H*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "likely pathogenic" ""
"0000832687" "2" "70" "2" "99012639" "99012639" "subst" "0" "00000" "CNGA3_000237" "g.99012639G>T" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.1006G>T, p.V336F" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396176G>T" "" "likely pathogenic" ""
"0000832688" "2" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.1228C>T, p.R410W*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000832689" "2" "70" "2" "99012770" "99012772" "del" "0" "00000" "CNGA3_000240" "g.99012770_99012772del" "" "{PMID:Liang 2015:25637600}" "" "CNGA3 c.1137_1139delCTT, p.L380del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396307_98396309del" "" "likely pathogenic" ""
"0000832691" "21" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00000" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Li 2015:26493561}" "" "CNGA3 c.1074G>A, p.W358X" "" "Germline" "yes" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic" ""
"0000832692" "3" "70" "2" "99012601" "99012601" "subst" "0" "00000" "CNGA3_000235" "g.99012601C>A" "" "{PMID:Li 2015:26493561}" "" "CNGA3 c.968C>A, p.A323D" "" "Germline" "yes" "" "0" "" "" "g.98396138C>A" "" "likely pathogenic" ""
"0000832693" "11" "70" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Li 2015:26493561}" "" "CNGA3 c.1706G>A, p.R569H" "" "Germline" "yes" "" "0" "" "" "g.98396876G>A" "" "likely pathogenic" ""
"0000832694" "21" "70" "2" "99008393" "99008393" "subst" "4.06223E-6" "00000" "CNGA3_000189" "g.99008393T>A" "" "{PMID:Chen 2015:26558200}" "" "CNGA3 c.633T>A (p.D211E)" "" "Germline" "yes" "" "0" "" "" "g.98391930T>A" "" "likely pathogenic" ""
"0000832695" "11" "70" "2" "99012639" "99012639" "subst" "0" "00000" "CNGA3_000237" "g.99012639G>T" "" "{PMID:Chen 2015:26558200}" "" "CNGA3 c.1006G>T (p.V336F)" "" "Germline" "yes" "" "0" "" "" "g.98396176G>T" "" "likely pathogenic" ""
"0000832696" "1" "70" "2" "99012630" "99012631" "del" "0" "00000" "CNGA3_000236" "g.99012630_99012631del" "" "{PMID:Kuniyoshi 2016:27040408}" "" "CNGA3 c.997_998del (p.D333Lfs*35)" "" "Unknown" "?" "" "0" "" "" "g.98396167_98396168del" "" "likely pathogenic" ""
"0000832697" "2" "70" "2" "99012903" "99012903" "subst" "0" "00000" "CNGA3_000242" "g.99012903A>G" "" "{PMID:Kuniyoshi 2016:27040408}" "" "CNGA3 c.1270A>G (p.M424V)" "" "Unknown" "?" "" "0" "" "" "g.98396440A>G" "" "likely pathogenic" ""
"0000832705" "3" "70" "2" "99012868" "99012869" "del" "0" "00000" "CNGA3_000241" "g.99012868_99012869del" "" "{PMID:Mejecase 2019:30267408}" "" "[M3] CNGA3 c.1235_1236del, p.(Glu412Valfs*6)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396405_98396406del" "" "likely pathogenic" ""
"0000832710" "0" "70" "2" "99012868" "99012869" "del" "0" "00000" "CNGA3_000241" "g.99012868_99012869del" "" "{PMID:Mejecase 2019:30267408}" "" "[M5] CUBN c.10344C>G, p.(Cys3448Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396405_98396406del" "" "likely pathogenic" ""
"0000832713" "0" "70" "2" "99012868" "99012869" "del" "0" "00000" "CNGA3_000241" "g.99012868_99012869del" "" "{PMID:Mejecase 2019:30267408}" "" "[M3] CNGA3 c.1235_1236del, p.(Glu412Valfs*6)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396405_98396406del" "" "likely pathogenic" ""
"0000832717" "0" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.1306C>T, (p.Arg436Trp)" "" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832718" "0" "70" "2" "99006135" "99006135" "del" "0" "00000" "CNGA3_000107" "g.99006135del" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.464delA, (p.Lys155Argfs*18)" "" "Unknown" "?" "" "0" "" "" "g.98389672del" "" "likely pathogenic" ""
"0000832719" "0" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.667C>T, (p.Arg223Trp)" "" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000832720" "0" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.847C>T, (p.Arg283Trp)" "" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832721" "0" "70" "2" "99006213" "99006213" "subst" "0" "00000" "CNGA3_000012" "g.99006213A>G" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.542A>G, (p.Tyr181Cys)" "" "Unknown" "?" "" "0" "" "" "g.98389750A>G" "" "likely pathogenic" ""
"0000832722" "0" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.1641C>A, (p.Phe547Leu)" "" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832723" "0" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.661C>T, (p.Arg221*)" "" "Unknown" "?" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic" ""
"0000832724" "0" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.1669G>A, (p.Gly557Arg)" "" "Unknown" "?" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832733" "0" "70" "2" "99012953" "99012953" "del" "0" "00000" "CNGA3_000108" "g.99012953del" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.1320delG, (p.Trp440Cysfs*25)" "" "Unknown" "?" "" "0" "" "" "g.98396490del" "" "likely pathogenic" ""
"0000832734" "0" "70" "2" "99006135" "99006135" "del" "0" "00000" "CNGA3_000107" "g.99006135del" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.464delA, (p.Lys155Argfs*18)" "" "Unknown" "?" "" "0" "" "" "g.98389672del" "" "likely pathogenic" ""
"0000832735" "0" "70" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.667C>T, (p.Arg223Trp)" "" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "likely pathogenic" ""
"0000832736" "0" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.1495C>T, (p.Arg499*)" "" "Unknown" "?" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" ""
"0000832737" "0" "70" "2" "99006213" "99006213" "subst" "0" "00000" "CNGA3_000012" "g.99006213A>G" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.542A>G, (p.Tyr181Cys)" "" "Unknown" "?" "" "0" "" "" "g.98389750A>G" "" "likely pathogenic" ""
"0000832738" "0" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.1641C>A, (p.Phe547Leu)" "" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832739" "0" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.1279C>T, (p.Arg427Cys)" "" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832740" "0" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Matet 2018:29618791}" "" "CNGA3 c.1669G>A, (p.Gly557Arg)" "" "Unknown" "?" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832751" "1" "70" "2" "99013320" "99013320" "subst" "2.03196E-5" "00000" "CNGA3_000183" "g.99013320C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1687C>T, Arg563Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396857C>T" "" "likely pathogenic" ""
"0000832752" "3" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1306C>T, Arg436Trp" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832753" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1641C>A, Phe547Leu" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832754" "3" "70" "2" "99012618" "99012618" "subst" "0" "00000" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 985G>T, Gly329Cys" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396155G>T" "" "likely pathogenic" ""
"0000832755" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 848G>A, Arg283Gln" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832756" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 829C>T, Arg277Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832757" "1" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1228C>T, Arg410Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000832758" "1" "70" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 940_942delATC, Ile314del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396110_98396112del" "" "likely pathogenic" ""
"0000832759" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1641C>A, Phe547Leu" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832760" "3" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1228C>G, Arg410Trp" "error in annotation, c.1228C>G causes p.(Arg410Gly) and not p.(Arg410Trp) which is caused by c.1228C>T (reported in literature); homozygous" "Unknown" "?" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000832761" "1" "70" "2" "99013213" "99013213" "subst" "8.13504E-6" "00000" "CNGA3_000227" "g.99013213T>G" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1580T>G, Leu527Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396750T>G" "" "likely pathogenic" ""
"0000832762" "1" "70" "2" "99013213" "99013213" "subst" "8.13504E-6" "00000" "CNGA3_000227" "g.99013213T>G" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1580T>G, Leu527Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396750T>G" "" "likely pathogenic" ""
"0000832763" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1306C>T, Arg436Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832764" "1" "70" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1306C>T, Arg436Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "likely pathogenic" ""
"0000832765" "1" "70" "2" "99012444" "99012444" "subst" "0" "00000" "CNGA3_000234" "g.99012444C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 811C>T, Pro271Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395981C>T" "" "likely pathogenic" ""
"0000832766" "1" "70" "2" "99012919" "99012919" "subst" "0" "00000" "CNGA3_000243" "g.99012919T>C" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1286T>C, Val429Ala" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396456T>C" "" "likely pathogenic" ""
"0000832767" "3" "70" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 661C>T, Arg221Ter" "homozygous" "Unknown" "?" "" "0" "" "" "g.98391958C>T" "" "likely pathogenic" ""
"0000832768" "3" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1641C>A, Phe547Leu" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832769" "2" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 778G>A, Asp260Asn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395948G>A" "" "likely pathogenic" ""
"0000832770" "2" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1228C>T, Arg410Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000832771" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1641C>A, Phe547Leu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832772" "2" "70" "2" "99012952" "99012952" "subst" "4.0704E-6" "00000" "CNGA3_000181" "g.99012952G>C" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1319G>C, Trp440Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396489G>C" "" "likely pathogenic" ""
"0000832774" "2" "70" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1114C>T, Pro372Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396284C>T" "" "likely pathogenic" ""
"0000832775" "2" "70" "2" "99013438" "99013438" "subst" "0" "00000" "CNGA3_000244" "g.99013438G>A" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1805G>A, Gly602Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396975G>A" "" "likely pathogenic" ""
"0000832776" "2" "70" "2" "99013438" "99013438" "subst" "0" "00000" "CNGA3_000244" "g.99013438G>A" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1805G>A, Gly602Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396975G>A" "" "likely pathogenic" ""
"0000832777" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1279C>T, Arg427Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832778" "2" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 1279C>T, Arg427Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000832779" "2" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 829C>T, Arg277Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000832780" "2" "70" "2" "99008368" "99008368" "subst" "0" "00000" "CNGA3_000233" "g.99008368G>A" "" "{PMID:Georgiou 2019:30682209}" "" "CNGA3 608G>A, Trp203Cysfs*29" "error in annotation, 608G>A causes p.(Trp203*) and not p.(Trp203Cysfs*29), heterozygous" "Unknown" "?" "" "0" "" "" "g.98391905G>A" "" "likely pathogenic" ""
"0000832781" "11" "90" "2" "99012411" "99012411" "subst" "8.12189E-6" "00000" "CNGA3_000231" "g.99012411G>C" "" "{PMID:Kohl 2021:34360608}" "" "CNGA3 c.778G>C;p.(D260H)" "uniparental isodisomy of chromosome 2; apparent homozygosity in sequencing" "Germline" "yes" "" "0" "" "" "g.98395948G>C" "" "pathogenic" ""
"0000832782" "3" "70" "2" "99006159" "99006159" "subst" "1.62422E-5" "00000" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt528 C>T (exon 5), Pro163Leu" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98389696C>T" "" "likely pathogenic" ""
"0000832783" "3" "70" "2" "99006159" "99006159" "subst" "1.62422E-5" "00000" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt528 C>T (exon 5), Pro163Leu" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98389696C>T" "" "likely pathogenic" ""
"0000832784" "3" "70" "2" "99006159" "99006159" "subst" "1.62422E-5" "00000" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt528 C>T (exon 5), Pro163Leu" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98389696C>T" "" "likely pathogenic" ""
"0000832785" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt887 C>T (exon 7), Arg283Trp" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832786" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt887 C>T (exon 7), Arg283Trp" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832787" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt887 C>T (exon 7), Arg283Trp" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000832788" "1" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt1268 C>T (exon 7), Arg411Trp" "error in annotation, Arg is on position 410; old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000832789" "1" "70" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt1268 C>T (exon 7), Arg411Trp" "error in annotation, Arg is on position 410; old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396398C>T" "" "likely pathogenic" ""
"0000832790" "1" "70" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt888 G>A (exon 7), Arg283Gln" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "likely pathogenic" ""
"0000832791" "1" "70" "2" "99012505" "99012505" "subst" "0" "00000" "CNGA3_000177" "g.99012505C>G" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt912 C>G (exon 7), Thr291Arg" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396042C>G" "" "likely pathogenic" ""
"0000832792" "1" "70" "2" "99012505" "99012505" "subst" "0" "00000" "CNGA3_000177" "g.99012505C>G" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt912 C>G (exon 7), Thr291Arg" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396042C>G" "" "likely pathogenic" ""
"0000832793" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt1625 G>A (exon 7), Val529Met" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832794" "2" "70" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt1625 G>A (exon 7), Val529Met" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "likely pathogenic" ""
"0000832795" "2" "70" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt1709 G>A (exon 7), Gly557Arg" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "likely pathogenic" ""
"0000832796" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt1681 C>A (exon 7), Phe547Leu" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000832797" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Kohl 1998:9662398}" "" "CNGA3 nt1681 C>A (exon 7), Phe547Leu" "old nucleotide numbering system, c. annotations extrapolated from literature and databases" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000846839" "0" "70" "2" "99013174" "99013174" "subst" "0" "03468" "CNGA3_000224" "g.99013174A>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000846840" "0" "70" "2" "99013614" "99013614" "subst" "0.0003421" "03468" "CNGA3_000173" "g.99013614C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000850075" "0" "90" "2" "99006184" "99006184" "subst" "8.12163E-6" "02327" "CNGA3_000184" "g.99006184G>A" "" "" "" "CNGA3(NM_001298.2):c.513G>A (p.W171*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000850076" "0" "30" "2" "99012734" "99012734" "subst" "0.000309424" "01943" "CNGA3_000019" "g.99012734T>C" "" "" "" "CNGA3(NM_001298.2):c.1101T>C (p.G367=), CNGA3(NM_001298.3):c.1101T>C (p.G367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850077" "0" "70" "2" "99013190" "99013190" "subst" "4.88404E-5" "02327" "CNGA3_000071" "g.99013190G>A" "" "" "" "CNGA3(NM_001298.2):c.1557G>A (p.M519I), CNGA3(NM_001298.3):c.1557G>A (p.M519I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000850078" "0" "30" "2" "99013251" "99013251" "subst" "0.00139811" "02330" "CNGA3_000021" "g.99013251G>A" "" "" "" "CNGA3(NM_001298.2):c.1618G>A (p.V540I), CNGA3(NM_001298.3):c.1618G>A (p.V540I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850079" "0" "30" "2" "99013551" "99013551" "subst" "0" "02330" "CNGA3_000245" "g.99013551C>T" "" "" "" "CNGA3(NM_001298.3):c.1918C>T (p.L640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858732" "0" "30" "2" "98994192" "98994192" "subst" "0.000158999" "02330" "CNGA3_000059" "g.98994192G>A" "" "" "" "CNGA3(NM_001298.2):c.144G>A (p.P48=), CNGA3(NM_001298.3):c.144G>A (p.P48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858733" "0" "30" "2" "98994246" "98994246" "subst" "0.00149332" "02330" "CNGA3_000166" "g.98994246C>T" "" "" "" "CNGA3(NM_001298.2):c.198C>T (p.T66=), CNGA3(NM_001298.3):c.198C>T (p.T66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858734" "0" "90" "2" "99006184" "99006184" "subst" "8.12163E-6" "01943" "CNGA3_000184" "g.99006184G>A" "" "" "" "CNGA3(NM_001298.2):c.513G>A (p.W171*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000874006" "3" "90" "2" "99008316" "99008316" "subst" "0" "04360" "CNGA3_000246" "g.99008316G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.98391853G>A" "" "likely pathogenic" ""
"0000876545" "1" "70" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Kellner 2004:15459792}" "" "CNGA3 R563H" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.98396858G>A" "" "likely pathogenic" ""
"0000876546" "1" "70" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Kellner 2004:15459792}" "" "CNGA3 R563H" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.98396858G>A" "" "likely pathogenic" ""
"0000876547" "1" "70" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Kellner 2004:15459792}" "" "CNGA3 R563H" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.98396858G>A" "" "likely pathogenic" ""
"0000876548" "1" "70" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Kellner 2004:15459792}" "" "CNGA3 R277C" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "likely pathogenic" ""
"0000876561" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Kellner 2004:15459792}" "" "CNGA3 FS47L" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000876562" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Kellner 2004:15459792}" "" "CNGA3 FS47L" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000876563" "2" "70" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Kellner 2004:15459792}" "" "CNGA3 FS47L" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "likely pathogenic" ""
"0000876564" "2" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Kellner 2004:15459792}" "" "CNGA3 R283W" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000881420" "1" "70" "2" "99012315" "99012315" "subst" "0.00138165" "04405" "CNGA3_000016" "g.99012315G>A" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.98395852G>A" "" "likely pathogenic" "ACMG"
"0000881421" "1" "70" "2" "99013170" "99013170" "subst" "4.07196E-6" "04405" "CNGA3_000247" "g.99013170G>A" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.98396707G>A" "" "likely pathogenic" "ACMG"
"0000881422" "1" "90" "2" "99012600" "99012600" "subst" "5.685E-5" "04405" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.98396137G>C" "" "pathogenic" "ACMG"
"0000881423" "1" "90" "2" "99012618" "99012618" "subst" "0" "04405" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.98396155G>T" "" "pathogenic" "ACMG"
"0000881454" "2" "90" "2" "99012618" "99012618" "subst" "0" "04405" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.98396155G>T" "" "pathogenic" "ACMG"
"0000881455" "2" "70" "2" "99013353" "99013353" "subst" "0" "04405" "CNGA3_000248" "g.99013353T>C" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.98396890T>C" "" "likely pathogenic" "ACMG"
"0000881456" "2" "70" "2" "99012672" "99012672" "subst" "1.21834E-5" "04405" "CNGA3_000191" "g.99012672C>T" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.98396209C>T" "" "likely pathogenic" "ACMG"
"0000881478" "3" "70" "2" "99012460" "99012460" "subst" "0" "00000" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Yousaf 2022:35456423}" "" "CNGA3 c.827A>G, p.(Asn276Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395997A>G" "" "likely pathogenic" ""
"0000881479" "3" "70" "2" "99012460" "99012460" "subst" "0" "00000" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Yousaf 2022:35456423}" "" "CNGA3 c.827A>G, p.(Asn276Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395997A>G" "" "likely pathogenic" ""
"0000881480" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Yousaf 2022:35456423}" "" "CNGA3 c.847C>T, p.(Arg283Trp)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000881481" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Yousaf 2022:35456423}" "" "CNGA3 c.847C>T, p.(Arg283Trp)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000881482" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Yousaf 2022:35456423}" "" "CNGA3 c.847C>T, p.(Arg283Trp)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000881483" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Yousaf 2022:35456423}" "" "CNGA3 c.847C>T, p.(Arg283Trp)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic" ""
"0000881484" "3" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Yousaf 2022:35456423}" "" "CNGA3 c.1279C>T, p.(Arg427Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000881485" "3" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Yousaf 2022:35456423}" "" "CNGA3 c.1279C>T, p.(Arg427Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000881486" "3" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Yousaf 2022:35456423}" "" "CNGA3 c.1279C>T, p.(Arg427Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000882148" "1" "10" "2" "99006129" "99006129" "subst" "0.00850314" "00000" "CNGA3_000185" "g.99006129C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.[458C>T;1585G>A]" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389666C>T" "" "benign" "ACMG"
"0000882149" "1" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.[458C>T;1585G>A]" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "pathogenic" "ACMG"
"0000882150" "2" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1228C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396398C>T" "" "pathogenic" "ACMG"
"0000882151" "3" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.[67C>T;682G>A]" "homozygous" "Germline" "yes" "" "0" "" "" "g.98370042C>T" "" "pathogenic" "ACMG"
"0000882152" "3" "90" "2" "99012315" "99012315" "subst" "0.00138165" "00000" "CNGA3_000016" "g.99012315G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.[67C>T;682G>A]" "homozygous" "Unknown" "?" "" "0" "" "" "g.98395852G>A" "" "pathogenic" "ACMG"
"0000882153" "3" "90" "2" "99012315" "99012315" "subst" "0.00138165" "00000" "CNGA3_000016" "g.99012315G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.[682G>A;1315C>T]" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395852G>A" "" "pathogenic" "ACMG"
"0000882154" "3" "90" "2" "99012948" "99012948" "subst" "2.03568E-5" "00000" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.[682G>A;1315C>T]" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396485C>T" "" "pathogenic" "ACMG"
"0000882155" "1" "70" "2" "99012637" "99012637" "subst" "0" "00000" "CNGA3_000277" "g.99012637G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1004G>A" "double heterozygous" "Unknown" "?" "" "0" "" "" "g.98396174G>A" "" "likely pathogenic" "ACMG"
"0000882156" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "double heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882157" "2" "90" "2" "99012580" "99012580" "subst" "0" "00000" "CNGA3_000214" "g.99012580G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.947G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396117G>A" "" "pathogenic" "ACMG"
"0000882158" "1" "90" "2" "99012654" "99012654" "subst" "8.12163E-6" "00000" "CNGA3_000096" "g.99012654T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1021T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396191T>C" "" "pathogenic" "ACMG"
"0000882159" "2" "70" "2" "99012906" "99012906" "subst" "8.15481E-6" "00000" "CNGA3_000284" "g.99012906C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1273C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396443C>T" "" "likely pathogenic" "ACMG"
"0000882160" "1" "70" "2" "99012663" "99012663" "subst" "1.21831E-5" "00000" "CNGA3_000097" "g.99012663G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1030G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396200G>T" "" "likely pathogenic" "ACMG"
"0000882161" "2" "90" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1694C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396864C>T" "" "pathogenic" "ACMG"
"0000882162" "1" "70" "2" "99012694" "99012694" "subst" "1.62481E-5" "00000" "CNGA3_000278" "g.99012694A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1061A>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396231A>G" "" "likely pathogenic" "ACMG"
"0000882163" "2" "70" "2" "99012703" "99012703" "subst" "0" "00000" "CNGA3_000148" "g.99012703A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1070A>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396240A>G" "" "likely pathogenic" "ACMG"
"0000882164" "1" "70" "2" "99012707" "99012707" "subst" "1.21907E-5" "00000" "CNGA3_000018" "g.99012707G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1074G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396244G>A" "" "likely pathogenic" "ACMG"
"0000882165" "2" "50" "2" "99013522" "99013522" "subst" "0" "00000" "CNGA3_000300" "g.99013522T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1889T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98397059T>C" "" "VUS" "ACMG"
"0000882166" "3" "90" "2" "99012721" "99012721" "subst" "0" "00000" "CNGA3_000215" "g.99012721T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1088T>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396258T>C" "" "pathogenic" "ACMG"
"0000882167" "3" "90" "2" "99012733" "99012733" "subst" "0" "00000" "CNGA3_000036" "g.99012733G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1100G>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396270G>T" "" "pathogenic" "ACMG"
"0000882168" "3" "90" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1114C>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396284C>T" "" "pathogenic" "ACMG"
"0000882169" "1" "90" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1114C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396284C>T" "" "pathogenic" "ACMG"
"0000882170" "2" "70" "2" "99012444" "99012444" "subst" "0.000121831" "00000" "CNGA3_000047" "g.99012444C>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.811C>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395981C>G" "" "likely pathogenic" "ACMG"
"0000882171" "1" "90" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1114C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396284C>T" "" "pathogenic" "ACMG"
"0000882172" "2" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.572G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" "ACMG"
"0000882173" "1" "90" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1114C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396284C>T" "" "pathogenic" "ACMG"
"0000882174" "2" "70" "2" "99013614" "99013614" "subst" "0.0003421" "00000" "CNGA3_000173" "g.99013614C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1981C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98397151C>A" "" "likely pathogenic" "ACMG"
"0000882175" "1" "70" "2" "99012749" "99012749" "del" "0" "00000" "CNGA3_000281" "g.99012749del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1116del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396286del" "" "likely pathogenic" "ACMG"
"0000882176" "2" "70" "2" "99013212" "99013212" "subst" "0" "00000" "CNGA3_000002" "g.99013212C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1579C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396749C>A" "" "likely pathogenic" "ACMG"
"0000882177" "3" "90" "2" "99012759" "99012759" "subst" "4.08067E-6" "00000" "CNGA3_000179" "g.99012759G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1126G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396296G>A" "" "pathogenic" "ACMG"
"0000882178" "1" "90" "2" "99012772" "99012772" "subst" "0" "00000" "CNGA3_000089" "g.99012772T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1139T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396309T>C" "" "pathogenic" "ACMG"
"0000882179" "2" "90" "2" "99013401" "99013401" "subst" "4.06362E-6" "00000" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1768G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396938G>A" "" "pathogenic" "ACMG"
"0000882180" "3" "70" "2" "99012823" "99012823" "subst" "0" "00000" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1190G>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396360G>T" "" "likely pathogenic" "ACMG"
"0000882181" "3" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1228C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396398C>T" "" "pathogenic" "ACMG"
"0000882182" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882183" "2" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882184" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882185" "2" "90" "2" "98994155" "98994158" "del" "0" "00000" "CNGA3_000112" "g.98994155_98994158del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.107_110del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98377692_98377695del" "" "pathogenic" "ACMG"
"0000882186" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882187" "2" "90" "2" "99013275" "99013275" "subst" "2.43845E-5" "00000" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1642G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396812G>A" "" "pathogenic" "ACMG"
"0000882188" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882189" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882190" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882191" "2" "90" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.940_942del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396110_98396112del" "" "pathogenic" "ACMG"
"0000882192" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882193" "2" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.661C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391958C>T" "" "pathogenic" "ACMG"
"0000882194" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882195" "2" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.67C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98370042C>T" "" "pathogenic" "ACMG"
"0000882196" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882197" "2" "70" "2" "99012984" "99012984" "dup" "0" "00000" "CNGA3_000146" "g.99012984dup" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1351dup" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396521dup" "" "likely pathogenic" "ACMG"
"0000882198" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882199" "2" "70" "2" "99012952" "99012952" "subst" "4.0704E-6" "00000" "CNGA3_000181" "g.99012952G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1319G>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396489G>C" "" "likely pathogenic" "ACMG"
"0000882200" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882201" "2" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1495C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" "ACMG"
"0000882202" "1" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882203" "2" "90" "2" "98996754" "98996755" "delins" "0" "00000" "CNGA3_000253" "g.98996754_98996755delinsAA" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.332_333delinsAA" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98380291_98380292delinsAA" "" "pathogenic" "ACMG"
"0000882204" "3" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882205" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882206" "2" "90" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1688G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396858G>A" "" "pathogenic" "ACMG"
"0000882207" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882208" "2" "90" "2" "99012759" "99012759" "subst" "4.08067E-6" "00000" "CNGA3_000179" "g.99012759G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1126G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396296G>A" "" "pathogenic" "ACMG"
"0000882209" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882210" "2" "50" "2" "98986439" "98986439" "subst" "0" "00000" "CNGA3_000249" "g.98986439A>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1A>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98369976A>T" "" "VUS" "ACMG"
"0000882211" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882212" "2" "90" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1114C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396284C>T" "" "pathogenic" "ACMG"
"0000882213" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882214" "2" "50" "2" "99012376" "99012376" "subst" "0" "00000" "CNGA3_000267" "g.99012376A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.743A>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395913A>G" "" "VUS" "ACMG"
"0000882215" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882216" "2" "90" "2" "99008428" "99008428" "subst" "4.88087E-5" "00000" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.668G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391965G>A" "" "pathogenic" "ACMG"
"0000882217" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882218" "2" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882219" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882220" "2" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882221" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882222" "2" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882223" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882224" "2" "90" "2" "99006159" "99006159" "subst" "1.62422E-5" "00000" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.488C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98389696C>T" "" "pathogenic" "ACMG"
"0000882225" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882226" "2" "90" "2" "99012953" "99012953" "del" "0" "00000" "CNGA3_000108" "g.99012953del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1320del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396490del" "" "pathogenic" "ACMG"
"0000882227" "1" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882228" "2" "70" "2" "99013212" "99013212" "subst" "0" "00000" "CNGA3_000002" "g.99013212C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1579C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396749C>A" "" "likely pathogenic" "ACMG"
"0000882229" "3" "90" "2" "99012948" "99012948" "subst" "2.03568E-5" "00000" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1315C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396485C>T" "" "pathogenic" "ACMG"
"0000882230" "1" "70" "2" "99012953" "99012953" "subst" "0" "00000" "CNGA3_000164" "g.99012953G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1320G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396490G>A" "" "likely pathogenic" "ACMG"
"0000882231" "2" "90" "2" "99013180" "99013180" "subst" "0" "00000" "CNGA3_000225" "g.99013180G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1547G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396717G>A" "" "pathogenic" "ACMG"
"0000882232" "1" "70" "2" "99012999" "99012999" "del" "0" "00000" "CNGA3_000286" "g.99012999del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1366del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396536del" "" "likely pathogenic" "ACMG"
"0000882233" "2" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1669G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396839G>A" "" "pathogenic" "ACMG"
"0000882234" "1" "70" "2" "99013012" "99013012" "del" "0" "00000" "CNGA3_000287" "g.99013012del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1379del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396549del" "" "likely pathogenic" "ACMG"
"0000882235" "2" "70" "2" "99013190" "99013190" "subst" "4.88404E-5" "00000" "CNGA3_000071" "g.99013190G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1557G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396727G>A" "" "likely pathogenic" "ACMG"
"0000882236" "1" "70" "2" "99013024" "99013024" "subst" "0" "00000" "CNGA3_000149" "g.99013024T>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1391T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396561T>G" "" "likely pathogenic" "ACMG"
"0000882237" "2" "70" "2" "99013254" "99013254" "subst" "0" "00000" "CNGA3_000150" "g.99013254C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1621C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396791C>T" "" "likely pathogenic" "ACMG"
"0000882238" "3" "70" "2" "99013024" "99013024" "subst" "0" "00000" "CNGA3_000149" "g.99013024T>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1391T>G" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396561T>G" "" "likely pathogenic" "ACMG"
"0000882239" "1" "70" "2" "99013028" "99013045" "del" "0" "00000" "CNGA3_000288" "g.99013028_99013045del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1395_1412del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396565_98396582del" "" "likely pathogenic" "ACMG"
"0000882240" "2" "70" "2" "99013198" "99013198" "subst" "0" "00000" "CNGA3_000043" "g.99013198T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1565T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396735T>C" "" "likely pathogenic" "ACMG"
"0000882241" "1" "70" "2" "99013076" "99013076" "dup" "0" "00000" "CNGA3_000093" "g.99013076dup" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1443dup" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396613dup" "" "likely pathogenic" "ACMG"
"0000882242" "2" "90" "2" "99013275" "99013275" "subst" "2.43845E-5" "00000" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1642G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396812G>A" "" "pathogenic" "ACMG"
"0000882243" "1" "70" "2" "99013076" "99013076" "dup" "0" "00000" "CNGA3_000093" "g.99013076dup" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1443dup" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396613dup" "" "likely pathogenic" "ACMG"
"0000882244" "2" "70" "2" "99013404" "99013404" "subst" "0" "00000" "CNGA3_000298" "g.99013404T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1771T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396941T>C" "" "likely pathogenic" "ACMG"
"0000882245" "1" "70" "2" "99013090" "99013090" "subst" "0" "00000" "CNGA3_000170" "g.99013090G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1457G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396627G>A" "" "likely pathogenic" "ACMG"
"0000882246" "2" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1585G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396755G>A" "" "pathogenic" "ACMG"
"0000882247" "1" "70" "2" "98994195" "98994195" "dup" "0" "00000" "CNGA3_000252" "g.98994195dup" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.147dup" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98377732dup" "" "likely pathogenic" "ACMG"
"0000882248" "2" "90" "2" "99012580" "99012580" "subst" "0" "00000" "CNGA3_000214" "g.99012580G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.947G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396117G>A" "" "pathogenic" "ACMG"
"0000882249" "3" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1495C>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" "ACMG"
"0000882250" "1" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1495C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" "ACMG"
"0000882251" "2" "70" "2" "98994187" "98994187" "subst" "0" "00000" "CNGA3_000251" "g.98994187C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.139C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98377724C>T" "" "likely pathogenic" "ACMG"
"0000882252" "1" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1495C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" "ACMG"
"0000882253" "2" "50" "2" "99006106" "99006106" "subst" "0" "00000" "CNGA3_000259" "g.99006106T>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.450-15T>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98389643T>G" "" "VUS" "ACMG"
"0000882254" "1" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1495C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" "ACMG"
"0000882255" "2" "90" "2" "98996754" "98996755" "delins" "0" "00000" "CNGA3_000253" "g.98996754_98996755delinsAA" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.332_333delinsAA" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98380291_98380292delinsAA" "" "pathogenic" "ACMG"
"0000882256" "1" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1495C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" "ACMG"
"0000882257" "2" "50" "2" "99008385" "99008385" "subst" "0" "00000" "CNGA3_000175" "g.99008385T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.625T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391922T>C" "" "VUS" "ACMG"
"0000882258" "1" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1495C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" "ACMG"
"0000882259" "2" "70" "2" "99012834" "99012834" "subst" "4.0797E-6" "00000" "CNGA3_000098" "g.99012834T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1201T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396371T>C" "" "likely pathogenic" "ACMG"
"0000882260" "3" "90" "2" "99013162" "99013162" "subst" "4.07106E-6" "00000" "CNGA3_000222" "g.99013162G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1529G>C" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396699G>C" "" "pathogenic" "ACMG"
"0000882261" "1" "90" "2" "99013171" "99013171" "subst" "0" "00000" "CNGA3_000223" "g.99013171G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1538G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396708G>A" "" "pathogenic" "ACMG"
"0000882262" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882263" "1" "90" "2" "99013207" "99013207" "subst" "0" "00000" "CNGA3_000226" "g.99013207G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1574G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396744G>A" "" "pathogenic" "ACMG"
"0000882264" "2" "90" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1694C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396864C>T" "" "pathogenic" "ACMG"
"0000882265" "3" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1585G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "pathogenic" "ACMG"
"0000882266" "1" "90" "2" "98994210" "98994211" "ins" "4.0821E-6" "00000" "CNGA3_000156" "g.98994210_98994211insT" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.162_163insT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98377747_98377748insT" "" "pathogenic" "ACMG"
"0000882267" "2" "90" "2" "99013038" "99013038" "subst" "1.632E-5" "00000" "CNGA3_000105" "g.99013038G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1405G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396575G>A" "" "pathogenic" "ACMG"
"0000882268" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882269" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882270" "2" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882271" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882272" "2" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882273" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882274" "2" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882275" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882276" "2" "90" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1688G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396858G>A" "" "pathogenic" "ACMG"
"0000882277" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882278" "2" "90" "2" "99012505" "99012505" "subst" "0" "00000" "CNGA3_000177" "g.99012505C>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.872C>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396042C>G" "" "pathogenic" "ACMG"
"0000882279" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882280" "2" "70" "2" "99012637" "99012637" "subst" "0" "00000" "CNGA3_000277" "g.99012637G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1004G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396174G>A" "" "likely pathogenic" "ACMG"
"0000882281" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882282" "2" "50" "2" "99012417" "99012417" "subst" "0" "00000" "CNGA3_000270" "g.99012417G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.784G>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395954G>C" "" "VUS" "ACMG"
"0000882283" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882284" "2" "70" "2" "99012588" "99012596" "delins" "0" "00000" "CNGA3_000274" "g.99012588_99012596delinsACCAATGAAATGGAAAT" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.955_963delinsACCAATGAAATGGAAAT" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396125_98396133delinsACCAATGAAATGGAAAT" "" "likely pathogenic" "ACMG"
"0000882285" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882286" "2" "90" "2" "98996762" "98996762" "subst" "0" "00000" "CNGA3_000254" "g.98996762G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.340G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98380299G>T" "" "pathogenic" "ACMG"
"0000882287" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882288" "2" "70" "2" "99008340" "99008340" "subst" "0" "00000" "CNGA3_000209" "g.99008340G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.580G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391877G>A" "" "likely pathogenic" "ACMG"
"0000882289" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882290" "2" "70" "2" "99008351" "99008351" "del" "0" "00000" "CNGA3_000263" "g.99008351del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.591del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391888del" "" "likely pathogenic" "ACMG"
"0000882291" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882292" "2" "70" "2" "99013315" "99013315" "subst" "0" "00000" "CNGA3_000182" "g.99013315G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1682G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396852G>A" "" "likely pathogenic" "ACMG"
"0000882293" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882294" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882295" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882296" "2" "90" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.778G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395948G>A" "" "pathogenic" "ACMG"
"0000882297" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882298" "2" "70" "2" "99013198" "99013198" "subst" "0" "00000" "CNGA3_000043" "g.99013198T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1565T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396735T>C" "" "likely pathogenic" "ACMG"
"0000882299" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882300" "2" "70" "2" "99013024" "99013024" "subst" "0" "00000" "CNGA3_000149" "g.99013024T>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1391T>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396561T>G" "" "likely pathogenic" "ACMG"
"0000882301" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882302" "2" "70" "2" "99006215" "99006215" "subst" "0" "00000" "CNGA3_000208" "g.99006215A>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.544A>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98389752A>T" "" "likely pathogenic" "ACMG"
"0000882303" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882304" "2" "70" "2" "99013315" "99013316" "ins" "0" "00000" "CNGA3_000294" "g.99013315_99013316insACGCG" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1682_1683insACGCG" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396852_98396853insACGCG" "" "likely pathogenic" "ACMG"
"0000882305" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882306" "2" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.67C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98370042C>T" "" "pathogenic" "ACMG"
"0000882307" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882308" "2" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882309" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882310" "2" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1228C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396398C>T" "" "pathogenic" "ACMG"
"0000882311" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882312" "2" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882313" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882314" "2" "70" "2" "99012888" "99012888" "subst" "0" "00000" "CNGA3_000180" "g.99012888T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1255T>C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396425T>C" "" "likely pathogenic" "ACMG"
"0000882315" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882316" "2" "50" "2" "99006150" "99006150" "subst" "0" "00000" "CNGA3_000207" "g.99006150T>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.479T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389687T>G" "" "VUS" "ACMG"
"0000882317" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00000" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1641C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000882318" "2" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1585G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396755G>A" "" "pathogenic" "ACMG"
"0000882319" "3" "90" "2" "99013275" "99013275" "subst" "2.43845E-5" "00000" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1642G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396812G>A" "" "pathogenic" "ACMG"
"0000882320" "3" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1669G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "pathogenic" "ACMG"
"0000882321" "3" "90" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1688G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396858G>A" "" "pathogenic" "ACMG"
"0000882322" "1" "90" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1694C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396864C>T" "" "pathogenic" "ACMG"
"0000882323" "2" "70" "2" "99013350" "99013350" "subst" "0" "00000" "CNGA3_000296" "g.99013350T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1717T>C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396887T>C" "" "likely pathogenic" "ACMG"
"0000882324" "3" "90" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1694C>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396864C>T" "" "pathogenic" "ACMG"
"0000882325" "1" "70" "2" "99013338" "99013338" "subst" "8.12671E-6" "00000" "CNGA3_000073" "g.99013338C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1705C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396875C>T" "" "likely pathogenic" "ACMG"
"0000882326" "2" "70" "2" "99013342" "99013342" "subst" "0" "00000" "CNGA3_000229" "g.99013342G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1709G>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396879G>T" "" "likely pathogenic" "ACMG"
"0000882327" "3" "70" "2" "99013408" "99013408" "subst" "4.06435E-6" "00000" "CNGA3_000299" "g.99013408C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1775C>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396945C>T" "" "likely pathogenic" "ACMG"
"0000882328" "3" "70" "2" "99013443" "99013443" "subst" "4.07608E-6" "00000" "CNGA3_000106" "g.99013443C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1810C>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396980C>T" "" "likely pathogenic" "ACMG"
"0000882329" "1" "30" "2" "98996775" "98996775" "subst" "0.000621476" "00000" "CNGA3_000009" "g.98996775A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.353A>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98380312A>G" "" "likely benign" "ACMG"
"0000882330" "2" "50" "2" "99013248" "99013248" "subst" "1.62591E-5" "00000" "CNGA3_000291" "g.99013248G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1615G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396785G>A" "" "VUS" "ACMG"
"0000882331" "1" "70" "2" "98996806" "98996809" "del" "0" "00000" "CNGA3_000255" "g.98996806_98996809del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.384_387del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98380343_98380346del" "" "likely pathogenic" "ACMG"
"0000882332" "2" "50" "2" "99006184" "99006184" "subst" "8.12163E-6" "00000" "CNGA3_000184" "g.99006184G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.513G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98389721G>A" "" "VUS" "ACMG"
"0000882333" "3" "70" "2" "98996809" "98996809" "del" "0" "00000" "CNGA3_000256" "g.98996809del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.387del" "homozygous" "Unknown" "?" "" "0" "" "" "g.98380346del" "" "likely pathogenic" "ACMG"
"0000882334" "3" "70" "2" "98999849" "98999853" "dup" "0" "00000" "CNGA3_000258" "g.98999849_98999853dup" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.396-2_398dup" "homozygous" "Unknown" "?" "" "0" "" "" "g.98383386_98383390dup" "" "likely pathogenic" "ACMG"
"0000882335" "3" "90" "2" "99006135" "99006135" "del" "0" "00000" "CNGA3_000107" "g.99006135del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.464del" "homozygous" "Unknown" "?" "" "0" "" "" "g.98389672del" "" "pathogenic" "ACMG"
"0000882336" "1" "70" "2" "99006156" "99006156" "subst" "9.74548E-5" "00000" "CNGA3_000102" "g.99006156A>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.485A>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98389693A>T" "" "likely pathogenic" "ACMG"
"0000882337" "2" "90" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.778G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395948G>A" "" "pathogenic" "ACMG"
"0000882338" "3" "90" "2" "99006159" "99006159" "subst" "1.62422E-5" "00000" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.488C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98389696C>T" "" "pathogenic" "ACMG"
"0000882339" "1" "90" "2" "99006170" "99006170" "del" "0" "00000" "CNGA3_000174" "g.99006170del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.499del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389707del" "" "pathogenic" "ACMG"
"0000882340" "2" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "pathogenic" "ACMG"
"0000882341" "1" "50" "2" "99006184" "99006184" "subst" "8.12163E-6" "00000" "CNGA3_000184" "g.99006184G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.513G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389721G>A" "" "VUS" "ACMG"
"0000882342" "2" "70" "2" "99013190" "99013190" "subst" "4.88404E-5" "00000" "CNGA3_000071" "g.99013190G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1557G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396727G>A" "" "likely pathogenic" "ACMG"
"0000882343" "1" "50" "2" "99006184" "99006184" "subst" "8.12163E-6" "00000" "CNGA3_000184" "g.99006184G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.513G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389721G>A" "" "VUS" "ACMG"
"0000882344" "2" "50" "2" "99012405" "99012405" "subst" "0" "00000" "CNGA3_000269" "g.99012405C>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.772C>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395942C>G" "" "VUS" "ACMG"
"0000882345" "1" "50" "2" "99006184" "99006184" "subst" "8.12163E-6" "00000" "CNGA3_000184" "g.99006184G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.513G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389721G>A" "" "VUS" "ACMG"
"0000882346" "2" "70" "2" "99012616" "99012616" "subst" "8.12143E-6" "00000" "CNGA3_000275" "g.99012616T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.983T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396153T>C" "" "likely pathogenic" "ACMG"
"0000882347" "3" "90" "2" "99006213" "99006213" "subst" "0" "00000" "CNGA3_000012" "g.99006213A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.542A>G" "homozygous" "Unknown" "?" "" "0" "" "" "g.98389750A>G" "" "pathogenic" "ACMG"
"0000882348" "1" "90" "2" "99006213" "99006213" "subst" "0" "00000" "CNGA3_000012" "g.99006213A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.542A>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389750A>G" "" "pathogenic" "ACMG"
"0000882349" "2" "70" "2" "99012484" "99012484" "del" "0" "00000" "CNGA3_000272" "g.99012484del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.851del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396021del" "" "likely pathogenic" "ACMG"
"0000882350" "1" "70" "2" "99006215" "99006215" "subst" "0" "00000" "CNGA3_000261" "g.99006215A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.544A>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98389752A>G" "" "likely pathogenic" "ACMG"
"0000882351" "2" "90" "2" "99008428" "99008428" "subst" "4.88087E-5" "00000" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.668G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391965G>A" "" "pathogenic" "ACMG"
"0000882352" "3" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.572G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" "ACMG"
"0000882353" "1" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.572G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" "ACMG"
"0000882354" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882355" "1" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.572G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" "ACMG"
"0000882356" "2" "70" "2" "99012535" "99012536" "delins" "0" "00000" "CNGA3_000273" "g.99012535_99012536delinsAA" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.902_903delinsAA" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396072_98396073delinsAA" "" "likely pathogenic" "ACMG"
"0000882357" "1" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.572G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" "ACMG"
"0000882358" "2" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1585G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396755G>A" "" "pathogenic" "ACMG"
"0000882359" "1" "50" "2" "99008369" "99008369" "subst" "4.06134E-6" "00000" "CNGA3_000264" "g.99008369G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.609G>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391906G>T" "" "VUS" "ACMG"
"0000882360" "2" "90" "2" "99012739" "99012739" "subst" "0" "00000" "CNGA3_000218" "g.99012739C>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1106C>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396276C>G" "" "pathogenic" "ACMG"
"0000882361" "3" "50" "2" "99008385" "99008385" "subst" "0" "00000" "CNGA3_000175" "g.99008385T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.625T>C" "homozygous" "Unknown" "?" "" "0" "" "" "g.98391922T>C" "" "VUS" "ACMG"
"0000882362" "1" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.661C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391958C>T" "" "pathogenic" "ACMG"
"0000882363" "2" "70" "2" "99012600" "99012600" "subst" "5.685E-5" "00000" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.967G>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396137G>C" "" "likely pathogenic" "ACMG"
"0000882364" "1" "50" "2" "99008424" "99008424" "subst" "0" "00000" "CNGA3_000210" "g.99008424G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.664G>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391961G>C" "" "VUS" "ACMG"
"0000882365" "2" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1669G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396839G>A" "" "pathogenic" "ACMG"
"0000882366" "3" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882367" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882368" "2" "90" "2" "99008428" "99008428" "subst" "4.88087E-5" "00000" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.668G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391965G>A" "" "pathogenic" "ACMG"
"0000882369" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882370" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882371" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882372" "2" "90" "2" "99013401" "99013401" "subst" "4.06362E-6" "00000" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1768G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396938G>A" "" "pathogenic" "ACMG"
"0000882373" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882374" "2" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882375" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882376" "2" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882377" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882378" "2" "90" "2" "99012654" "99012654" "subst" "8.12163E-6" "00000" "CNGA3_000096" "g.99012654T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1021T>C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396191T>C" "" "pathogenic" "ACMG"
"0000882379" "3" "50" "2" "99008430" "99008430" "subst" "0" "00000" "CNGA3_000064" "g.99008430A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.670A>G" "homozygous" "Germline" "yes" "" "0" "" "" "g.98391967A>G" "" "VUS" "ACMG"
"0000882380" "1" "70" "2" "99008431" "99008431" "subst" "0" "00000" "CNGA3_000211" "g.99008431C>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.671C>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391968C>G" "" "likely pathogenic" "ACMG"
"0000882381" "2" "90" "2" "99012739" "99012739" "subst" "0" "00000" "CNGA3_000218" "g.99012739C>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1106C>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396276C>G" "" "pathogenic" "ACMG"
"0000882382" "1" "70" "2" "99008431" "99008431" "subst" "0" "00000" "CNGA3_000211" "g.99008431C>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.671C>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391968C>G" "" "likely pathogenic" "ACMG"
"0000882383" "2" "70" "2" "99013278" "99013278" "subst" "4.06349E-6" "00000" "CNGA3_000292" "g.99013278G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1645G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396815G>T" "" "likely pathogenic" "ACMG"
"0000882384" "1" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.67C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98370042C>T" "" "pathogenic" "ACMG"
"0000882385" "2" "70" "2" "99012663" "99012663" "subst" "1.21831E-5" "00000" "CNGA3_000097" "g.99012663G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1030G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396200G>T" "" "likely pathogenic" "ACMG"
"0000882386" "1" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "00000" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.67C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98370042C>T" "" "pathogenic" "ACMG"
"0000882387" "2" "70" "2" "99012444" "99012444" "subst" "4.06105E-6" "00000" "CNGA3_000271" "g.99012444C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.811C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395981C>A" "" "likely pathogenic" "ACMG"
"0000882388" "1" "50" "2" "99012337" "99012337" "subst" "0" "00000" "CNGA3_000176" "g.99012337A>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.704A>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395874A>T" "" "VUS" "ACMG"
"0000882389" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882390" "1" "70" "2" "99012375" "99012375" "subst" "0" "00000" "CNGA3_000266" "g.99012375C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.742C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395912C>T" "" "likely pathogenic" "ACMG"
"0000882391" "2" "70" "2" "99012748" "99012748" "subst" "0" "00000" "CNGA3_000037" "g.99012748C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1115C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396285C>T" "" "likely pathogenic" "ACMG"
"0000882392" "3" "70" "2" "99012387" "99012387" "subst" "0" "00000" "CNGA3_000268" "g.99012387G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.754G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395924G>A" "" "likely pathogenic" "ACMG"
"0000882393" "3" "90" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.778G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395948G>A" "" "pathogenic" "ACMG"
"0000882394" "1" "90" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.778G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395948G>A" "" "pathogenic" "ACMG"
"0000882395" "2" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1228C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396398C>T" "" "pathogenic" "ACMG"
"0000882396" "1" "90" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.778G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395948G>A" "" "pathogenic" "ACMG"
"0000882397" "2" "70" "2" "99012748" "99012748" "subst" "0" "00000" "CNGA3_000037" "g.99012748C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1115C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396285C>T" "" "likely pathogenic" "ACMG"
"0000882398" "1" "90" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.778G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395948G>A" "" "pathogenic" "ACMG"
"0000882399" "2" "70" "2" "99013190" "99013190" "subst" "4.88404E-5" "00000" "CNGA3_000071" "g.99013190G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1557G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396727G>A" "" "likely pathogenic" "ACMG"
"0000882400" "3" "70" "2" "99012411" "99012411" "subst" "8.12189E-6" "00000" "CNGA3_000231" "g.99012411G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.778G>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395948G>C" "" "likely pathogenic" "ACMG"
"0000882401" "1" "50" "2" "99012417" "99012417" "subst" "0" "00000" "CNGA3_000270" "g.99012417G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.784G>C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395954G>C" "" "VUS" "ACMG"
"0000882402" "2" "70" "2" "99013341" "99013341" "subst" "0" "00000" "CNGA3_000295" "g.99013341A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1708A>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396878A>G" "" "likely pathogenic" "ACMG"
"0000882403" "1" "50" "2" "99012417" "99012417" "subst" "0" "00000" "CNGA3_000270" "g.99012417G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.784G>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395954G>C" "" "VUS" "ACMG"
"0000882404" "2" "70" "2" "99013369" "99013369" "subst" "0" "00000" "CNGA3_000297" "g.99013369T>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1736T>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396906T>G" "" "likely pathogenic" "ACMG"
"0000882405" "1" "90" "2" "99012433" "99012433" "subst" "0" "00000" "CNGA3_000212" "g.99012433G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.800G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395970G>A" "" "pathogenic" "ACMG"
"0000882406" "2" "70" "2" "99013596" "99013596" "subst" "0" "00000" "CNGA3_000230" "g.99013596C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1963C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98397133C>T" "" "likely pathogenic" "ACMG"
"0000882407" "1" "70" "2" "99012444" "99012444" "subst" "0.000121831" "00000" "CNGA3_000047" "g.99012444C>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.811C>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395981C>G" "" "likely pathogenic" "ACMG"
"0000882408" "2" "70" "2" "99012709" "99012709" "subst" "0" "00000" "CNGA3_000280" "g.99012709C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1076C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396246C>T" "" "likely pathogenic" "ACMG"
"0000882409" "3" "70" "2" "99012455" "99012455" "subst" "3.24923E-5" "00000" "CNGA3_000032" "g.99012455G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.822G>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98395992G>T" "" "likely pathogenic" "ACMG"
"0000882410" "1" "70" "2" "99012462" "99012462" "subst" "0" "00000" "CNGA3_000157" "g.99012462C>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>G" "" "likely pathogenic" "ACMG"
"0000882411" "2" "90" "2" "99012654" "99012654" "subst" "8.12163E-6" "00000" "CNGA3_000096" "g.99012654T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1021T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396191T>C" "" "pathogenic" "ACMG"
"0000882412" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882413" "2" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882414" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882415" "2" "90" "2" "99013038" "99013038" "subst" "1.632E-5" "00000" "CNGA3_000105" "g.99013038G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1405G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396575G>A" "" "pathogenic" "ACMG"
"0000882416" "3" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882417" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882418" "2" "70" "2" "99008332" "99008332" "subst" "1.21836E-5" "00000" "CNGA3_000110" "g.99008332G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.572G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391869G>A" "" "likely pathogenic" "ACMG"
"0000882419" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882420" "2" "90" "2" "99012948" "99012948" "subst" "2.03568E-5" "00000" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1315C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396485C>T" "" "pathogenic" "ACMG"
"0000882421" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882422" "2" "70" "2" "99013614" "99013614" "subst" "0.0003421" "00000" "CNGA3_000173" "g.99013614C>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1981C>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98397151C>A" "" "likely pathogenic" "ACMG"
"0000882423" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882424" "2" "70" "2" "99013213" "99013213" "subst" "8.13504E-6" "00000" "CNGA3_000227" "g.99013213T>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1580T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396750T>G" "" "likely pathogenic" "ACMG"
"0000882425" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882426" "2" "90" "2" "99012411" "99012411" "subst" "2.43657E-5" "00000" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.778G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395948G>A" "" "pathogenic" "ACMG"
"0000882427" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882428" "2" "70" "2" "99006227" "99006227" "subst" "0" "00000" "CNGA3_000088" "g.99006227C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.556C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389764C>T" "" "likely pathogenic" "ACMG"
"0000882429" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882430" "2" "50" "2" "99006237" "99006237" "subst" "0" "00000" "CNGA3_000262" "g.99006237G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.566G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98389774G>A" "" "VUS" "ACMG"
"0000882431" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882432" "2" "90" "2" "99008421" "99008421" "subst" "1.62608E-5" "00000" "CNGA3_000063" "g.99008421C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.661C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98391958C>T" "" "pathogenic" "ACMG"
"0000882433" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882434" "2" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.667C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000882435" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882436" "2" "70" "2" "99013242" "99013242" "subst" "0" "00000" "CNGA3_000228" "g.99013242C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1609C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396779C>T" "" "likely pathogenic" "ACMG"
"0000882437" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882438" "2" "90" "2" "99013351" "99013351" "subst" "0" "00000" "CNGA3_000153" "g.99013351A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1718A>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396888A>G" "" "pathogenic" "ACMG"
"0000882439" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882440" "2" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "pathogenic" "ACMG"
"0000882441" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882442" "2" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882443" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882444" "2" "90" "2" "99013320" "99013320" "subst" "2.03196E-5" "00000" "CNGA3_000183" "g.99013320C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1687C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396857C>T" "" "pathogenic" "ACMG"
"0000882445" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882446" "2" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1585G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396755G>A" "" "pathogenic" "ACMG"
"0000882447" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882448" "2" "70" "2" "99013099" "99013099" "subst" "0" "00000" "CNGA3_000289" "g.99013099G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1466G>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396636G>T" "" "likely pathogenic" "ACMG"
"0000882449" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882450" "2" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1228C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396398C>T" "" "pathogenic" "ACMG"
"0000882451" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882452" "2" "70" "2" "99013170" "99013170" "subst" "4.07196E-6" "00000" "CNGA3_000247" "g.99013170G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1537G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396707G>A" "" "likely pathogenic" "ACMG"
"0000882453" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882454" "2" "50" "2" "99012976" "99012976" "subst" "0.000199268" "00000" "CNGA3_000285" "g.99012976A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1343A>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396513A>G" "" "VUS" "ACMG"
"0000882455" "2" "70" "2" "99013291" "99013291" "subst" "4.06349E-6" "00000" "CNGA3_000293" "g.99013291T>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1658T>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396828T>A" "" "likely pathogenic" "ACMG"
"0000882456" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882457" "2" "90" "2" "99012750" "99012750" "subst" "4.0815E-5" "00000" "CNGA3_000282" "g.99012750G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1117G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396287G>A" "" "pathogenic" "ACMG"
"0000882458" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882459" "2" "90" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1694C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396864C>T" "" "pathogenic" "ACMG"
"0000882460" "3" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882461" "1" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882462" "2" "50" "2" "99012379" "99012379" "subst" "0" "00000" "CNGA3_000094" "g.99012379T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.746T>C" "heterozygous" "Germline" "" "" "0" "" "" "g.98395916T>C" "" "VUS" "ACMG"
"0000882463" "1" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882464" "2" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "00000" "CNGA3_000053" "g.99013218G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1585G>A" "heterozygous" "Germline" "" "" "0" "" "" "g.98396755G>A" "" "pathogenic" "ACMG"
"0000882465" "1" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882466" "2" "70" "2" "99012762" "99012764" "del" "0" "00000" "CNGA3_000239" "g.99012762_99012764del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1129_1131del" "heterozygous" "Germline" "" "" "0" "" "" "g.98396299_98396301del" "" "likely pathogenic" "ACMG"
"0000882467" "1" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882468" "2" "70" "2" "99012703" "99012703" "subst" "0" "00000" "CNGA3_000148" "g.99012703A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1070A>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396240A>G" "" "likely pathogenic" "ACMG"
"0000882469" "1" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882470" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882471" "1" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882472" "2" "90" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1694C>T" "heterozygous" "Germline" "" "" "0" "" "" "g.98396864C>T" "" "pathogenic" "ACMG"
"0000882473" "1" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882474" "2" "90" "2" "99012953" "99012953" "del" "0" "00000" "CNGA3_000108" "g.99012953del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1320del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396490del" "" "pathogenic" "ACMG"
"0000882475" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882476" "2" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882477" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882478" "2" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00000" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.829C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98395999C>T" "" "pathogenic" "ACMG"
"0000882479" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882480" "2" "90" "2" "99006159" "99006159" "subst" "1.62422E-5" "00000" "CNGA3_000030" "g.99006159C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.488C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389696C>T" "" "pathogenic" "ACMG"
"0000882481" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882482" "2" "50" "2" "99012379" "99012379" "subst" "0" "00000" "CNGA3_000094" "g.99012379T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.746T>C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98395916T>C" "" "VUS" "ACMG"
"0000882483" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882484" "2" "90" "2" "99012747" "99012747" "subst" "8.15874E-6" "00000" "CNGA3_000036" "g.99012747C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1114C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396284C>T" "" "pathogenic" "ACMG"
"0000882485" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882486" "2" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00000" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1279C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000882487" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882488" "2" "90" "2" "99010372" "99015556" "del" "0" "00000" "CNGA3_000265" "g.99010372_99015556del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.674-1935_*1838del" "heterozygous" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000882489" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882490" "2" "70" "2" "99012823" "99012823" "subst" "0" "00000" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1190G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396360G>T" "" "likely pathogenic" "ACMG"
"0000882491" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882492" "2" "90" "2" "99013171" "99013171" "subst" "0" "00000" "CNGA3_000223" "g.99013171G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1538G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396708G>A" "" "pathogenic" "ACMG"
"0000882493" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882494" "2" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882495" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882496" "2" "90" "2" "99012772" "99012772" "subst" "0" "00000" "CNGA3_000089" "g.99012772T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1139T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396309T>C" "" "pathogenic" "ACMG"
"0000882497" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882498" "2" "90" "2" "99013321" "99013321" "subst" "7.72295E-5" "00000" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1688G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396858G>A" "" "pathogenic" "ACMG"
"0000882499" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882500" "2" "90" "2" "99013327" "99013327" "subst" "0.000154434" "00000" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1694C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396864C>T" "" "pathogenic" "ACMG"
"0000882501" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882502" "2" "90" "2" "99013207" "99013207" "subst" "0" "00000" "CNGA3_000226" "g.99013207G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1574G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396744G>A" "" "pathogenic" "ACMG"
"0000882503" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882504" "2" "90" "2" "99012939" "99012939" "subst" "9.77812E-5" "00000" "CNGA3_000039" "g.99012939C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1306C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396476C>T" "" "pathogenic" "ACMG"
"0000882505" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882506" "2" "70" "2" "99013152" "99013152" "del" "0" "00000" "CNGA3_000290" "g.99013152del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1519del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396689del" "" "likely pathogenic" "ACMG"
"0000882507" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882508" "2" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1669G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396839G>A" "" "pathogenic" "ACMG"
"0000882509" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882510" "2" "70" "2" "99013128" "99013128" "subst" "8.13941E-6" "00000" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1495C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396665C>T" "" "likely pathogenic" "ACMG"
"0000882511" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882512" "2" "70" "2" "99012901" "99012901" "subst" "0" "00000" "CNGA3_000283" "g.99012901A>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1268A>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396438A>C" "" "likely pathogenic" "ACMG"
"0000882513" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882514" "2" "90" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.940_942del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "pathogenic" "ACMG"
"0000882515" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882516" "2" "90" "2" "99013401" "99013401" "subst" "4.06362E-6" "00000" "CNGA3_000005" "g.99013401G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1768G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396938G>A" "" "pathogenic" "ACMG"
"0000882517" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00000" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.847C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000882518" "2" "90" "2" "98996754" "98996755" "delins" "0" "00000" "CNGA3_000253" "g.98996754_98996755delinsAA" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.332_333delinsAA" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98380291_98380292delinsAA" "" "pathogenic" "ACMG"
"0000882519" "3" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882520" "1" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882521" "2" "70" "2" "99006120" "99006120" "subst" "1.21818E-5" "00000" "CNGA3_000260" "g.99006120G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.450-1G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98389657G>A" "" "likely pathogenic" "ACMG"
"0000882522" "1" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882523" "2" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00000" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.830G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396000G>A" "" "pathogenic" "ACMG"
"0000882524" "1" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882525" "2" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00000" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1669G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396839G>A" "" "pathogenic" "ACMG"
"0000882526" "1" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882527" "2" "90" "2" "99012931" "99012931" "subst" "0" "00000" "CNGA3_000219" "g.99012931T>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1298T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396468T>G" "" "pathogenic" "ACMG"
"0000882528" "1" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882529" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882530" "1" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882531" "2" "70" "2" "99012696" "99012696" "subst" "1.21856E-5" "00000" "CNGA3_000279" "g.99012696A>G" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1063A>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396233A>G" "" "likely pathogenic" "ACMG"
"0000882532" "1" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882533" "2" "70" "2" "99012749" "99012749" "del" "0" "00000" "CNGA3_000281" "g.99012749del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1116del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396286del" "" "likely pathogenic" "ACMG"
"0000882534" "1" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00000" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.848G>A" "single heterozygous, second allele unknown" "Unknown" "?" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000882535" "1" "70" "2" "99012539" "99012539" "subst" "4.06062E-6" "00000" "CNGA3_000178" "g.99012539G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.906G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396076G>T" "" "likely pathogenic" "ACMG"
"0000882536" "2" "70" "2" "99012952" "99012952" "subst" "4.0704E-6" "00000" "CNGA3_000181" "g.99012952G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1319G>C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396489G>C" "" "likely pathogenic" "ACMG"
"0000882537" "3" "90" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.940_942del" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "pathogenic" "ACMG"
"0000882538" "1" "90" "2" "99012573" "99012575" "del" "0" "00000" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.940_942del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396110_98396112del" "" "pathogenic" "ACMG"
"0000882539" "2" "70" "2" "99013087" "99013087" "subst" "0" "00000" "CNGA3_000221" "g.99013087A>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1454A>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396624A>T" "" "likely pathogenic" "ACMG"
"0000882540" "3" "90" "2" "99012580" "99012580" "subst" "0" "00000" "CNGA3_000214" "g.99012580G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.947G>A" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396117G>A" "" "pathogenic" "ACMG"
"0000882541" "1" "90" "2" "99012585" "99012585" "subst" "1.21826E-5" "00000" "CNGA3_000004" "g.99012585G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.952G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396122G>A" "" "pathogenic" "ACMG"
"0000882542" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882543" "1" "70" "2" "99012600" "99012600" "subst" "5.685E-5" "00000" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.967G>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396137G>C" "" "likely pathogenic" "ACMG"
"0000882544" "2" "90" "2" "99013339" "99013339" "subst" "1.62534E-5" "00000" "CNGA3_000074" "g.99013339G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1706G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396876G>A" "" "pathogenic" "ACMG"
"0000882545" "1" "70" "2" "99012600" "99012600" "subst" "5.685E-5" "00000" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.967G>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396137G>C" "" "likely pathogenic" "ACMG"
"0000882546" "2" "90" "2" "99013320" "99013320" "subst" "2.03196E-5" "00000" "CNGA3_000183" "g.99013320C>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1687C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.98396857C>T" "" "pathogenic" "ACMG"
"0000882547" "3" "70" "2" "99012600" "99012600" "subst" "5.685E-5" "00000" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.967G>C" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396137G>C" "" "likely pathogenic" "ACMG"
"0000882548" "3" "90" "2" "99012618" "99012618" "subst" "0" "00000" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.985G>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.98396155G>T" "" "pathogenic" "ACMG"
"0000882549" "3" "70" "2" "99012625" "99012625" "subst" "4.06081E-6" "00000" "CNGA3_000276" "g.99012625G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.992G>A" "homozygous" "Unknown" "?" "" "0" "" "" "g.98396162G>A" "" "likely pathogenic" "ACMG"
"0000882550" "1" "70" "2" "99012625" "99012625" "subst" "4.06081E-6" "00000" "CNGA3_000276" "g.99012625G>A" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.992G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396162G>A" "" "likely pathogenic" "ACMG"
"0000882551" "2" "70" "2" "99012834" "99012834" "subst" "4.0797E-6" "00000" "CNGA3_000098" "g.99012834T>C" "" "{PMID:Solaki 2022:35332618}" "" "CNGA3 c.1201T>C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.98396371T>C" "" "likely pathogenic" "ACMG"
"0000885449" "0" "10" "2" "98986497" "98986497" "subst" "0.00117476" "02330" "CNGA3_000250" "g.98986497C>T" "" "" "" "CNGA3(NM_001298.3):c.59C>T (p.T20I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000885450" "0" "90" "2" "98986540" "98986540" "subst" "0.000266114" "02327" "CNGA3_000080" "g.98986540G>A" "" "" "" "CNGA3(NM_001298.2):c.101+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000885451" "0" "30" "2" "98999847" "98999847" "subst" "0.00165747" "02330" "CNGA3_000257" "g.98999847G>A" "" "" "" "CNGA3(NM_001298.3):c.396-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885452" "0" "90" "2" "99012480" "99012480" "subst" "0.000105635" "02330" "CNGA3_000034" "g.99012480C>T" "" "" "" "CNGA3(NM_001298.2):c.847C>T (p.R283W), CNGA3(NM_001298.3):c.847C>T (p.R283W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000905855" "0" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Zhu 2022:35456422}" "" "CNGA3 c.667C>T, p.(Arg223Trp)" "homozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000905856" "0" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00000" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Zhu 2022:35456422}" "" "CNGA3 c.667C>T, p.(Arg223Trp)" "homozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000905868" "0" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Zhu 2022:35456422}" "" "CNGA3 c.1228C>T, p.(Arg410Trp)" "homozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396398C>T" "" "pathogenic" "ACMG"
"0000905869" "0" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Zhu 2022:35456422}" "" "CNGA3 c.1228C>T, p.(Arg410Trp)" "homozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396398C>T" "" "pathogenic" "ACMG"
"0000905872" "0" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Zhu 2022:35456422}" "" "CNGA3 c.1228C>T, p.(Arg410Trp)" "homozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396398C>T" "" "pathogenic" "ACMG"
"0000905873" "0" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "00000" "CNGA3_000099" "g.99012861C>T" "" "{PMID:Zhu 2022:35456422}" "" "CNGA3 c.1228C>T, p.(Arg410Trp)" "homozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.98396398C>T" "" "pathogenic" "ACMG"
"0000920377" "0" "90" "2" "98986540" "98986540" "subst" "0.000266114" "00006" "CNGA3_000080" "g.98986540G>A" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98370077G>A" "" "NA" ""
"0000920420" "0" "90" "2" "98986540" "98986540" "subst" "0.000266114" "00006" "CNGA3_000080" "g.98986540G>A" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PS1_Very strong, PM2_Moderate, PP5_Supporting, PP3_supporting, PS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98370077G>A" "VCV000208567" "pathogenic (recessive)" "ACMG"
"0000920421" "0" "10" "2" "98994259" "98994259" "subst" "0.000159751" "00006" "CNGA3_000301" "g.98994259G>A" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98377796G>A" "" "NA" ""
"0000920422" "0" "30" "2" "98994259" "98994259" "subst" "0.000159751" "00006" "CNGA3_000301" "g.98994259G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98377796G>A" "VCV000858875" "likely benign" "ACMG"
"0000920423" "0" "10" "2" "98994274" "98994274" "subst" "0.00101577" "00006" "CNGA3_000008" "g.98994274A>G" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98377811A>G" "" "NA" ""
"0000920424" "0" "10" "2" "98994274" "98994274" "subst" "0.00101577" "00006" "CNGA3_000008" "g.98994274A>G" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG BS1_Strong, BS2_Strong, BP7_Supporting, BP6_Strong, BS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98377811A>G" "VCV000337653" "benign" "ACMG"
"0000920425" "0" "90" "2" "98996818" "98996818" "subst" "0" "00006" "CNGA3_000158" "g.98996818G>T" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98380355G>T" "" "NA" ""
"0000920426" "0" "90" "2" "98996818" "98996818" "subst" "0" "00006" "CNGA3_000158" "g.98996818G>T" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PVS1_Strong, PM2_Moderate, PP3_supporting, PS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98380355G>T" "" "pathogenic (recessive)" "ACMG"
"0000920427" "0" "10" "2" "98996826" "98996826" "subst" "7.88467E-5" "00006" "CNGA3_000303" "g.98996826C>T" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98380363C>T" "" "NA" ""
"0000920428" "0" "50" "2" "98996826" "98996826" "subst" "7.88467E-5" "00006" "CNGA3_000303" "g.98996826C>T" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_Moderate, BS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98380363C>T" "VCV000897208" "VUS" "ACMG"
"0000920429" "0" "90" "2" "98999840" "98999840" "subst" "0" "00006" "CNGA3_000116" "g.98999840C>G" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98383377C>G" "" "NA" ""
"0000920430" "0" "70" "2" "98999840" "98999840" "subst" "0" "00006" "CNGA3_000116" "g.98999840C>G" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PP1_Supporting, PM2_Moderate, PP3_supporting, PS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98383377C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000920431" "0" "10" "2" "98999847" "98999847" "subst" "0.00165747" "00006" "CNGA3_000257" "g.98999847G>A" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98383384G>A" "" "NA" ""
"0000920432" "0" "10" "2" "98999847" "98999847" "subst" "0.00165747" "00006" "CNGA3_000257" "g.98999847G>A" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG BS1_Strong, BP4_Supporting, BP6_Strong, BS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98383384G>A" "VCV000337656" "benign" "ACMG"
"0000920433" "0" "90" "2" "98999849" "98999853" "dup" "0" "00006" "CNGA3_000258" "g.98999849_98999853dup" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98383386_98383390dup" "" "NA" ""
"0000920434" "0" "90" "2" "98999849" "98999853" "dup" "0" "00006" "CNGA3_000258" "g.98999849_98999853dup" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_Moderate, BP4_supporting, PVS1_very strong, PS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98383386_98383390dup" "VCV001064481" "pathogenic (recessive)" "ACMG"
"0000920437" "0" "10" "2" "98999917" "98999917" "subst" "0" "00006" "CNGA3_000304" "g.98999917A>G" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98383454A>G" "" "NA" ""
"0000920438" "0" "30" "2" "98999917" "98999917" "subst" "0" "00006" "CNGA3_000304" "g.98999917A>G" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_Moderate, BP7_Supporting, BS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98383454A>G" "VCV000897210" "likely benign" "ACMG"
"0000920439" "0" "90" "2" "99006106" "99006106" "subst" "0" "00006" "CNGA3_000259" "g.99006106T>G" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98389643T>G" "" "NA" ""
"0000920440" "0" "70" "2" "99006106" "99006106" "subst" "0" "00006" "CNGA3_000259" "g.99006106T>G" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_Moderate, PP3_supporting, PS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98389643T>G" "VCV001064482" "likely pathogenic (recessive)" "ACMG"
"0000920441" "0" "90" "2" "99006120" "99006120" "subst" "1.21818E-5" "00006" "CNGA3_000260" "g.99006120G>A" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98389657G>A" "" "NA" ""
"0000920442" "0" "90" "2" "99006120" "99006120" "subst" "1.21818E-5" "00006" "CNGA3_000260" "g.99006120G>A" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PVS1_Strong, PM2_Moderate, PP3_supporting, PS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98389657G>A" "VCV001453949" "pathogenic (recessive)" "ACMG"
"0000920443" "0" "90" "2" "99006237" "99006237" "subst" "0" "00006" "CNGA3_000262" "g.99006237G>A" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98389774G>A" "" "NA" ""
"0000920444" "0" "70" "2" "99006237" "99006237" "subst" "0" "00006" "CNGA3_000262" "g.99006237G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_mod, PM1_sup, PP2_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389774G>A" "VCV001064486" "likely pathogenic (recessive)" "ACMG"
"0000920445" "0" "10" "2" "99006243" "99006243" "subst" "0.000629764" "00006" "CNGA3_000305" "g.99006243C>T" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98389780C>T" "" "NA" ""
"0000920446" "0" "30" "2" "99006243" "99006243" "subst" "0.000629764" "00006" "CNGA3_000305" "g.99006243C>T" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_Moderate, BP4_Supporting, BP6_Supporting, BS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98389780C>T" "VCV000898384" "likely benign" "ACMG"
"0000920447" "0" "10" "2" "99006251" "99006251" "subst" "2.43807E-5" "00006" "CNGA3_000306" "g.99006251G>A" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98389788G>A" "" "NA" ""
"0000920448" "0" "30" "2" "99006251" "99006251" "subst" "2.43807E-5" "00006" "CNGA3_000306" "g.99006251G>A" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_Moderate, BP7_Supporting, BP6_Supporting, BS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98389788G>A" "VCV001064489" "likely benign" "ACMG"
"0000920449" "0" "90" "2" "99008316" "99008316" "subst" "0" "00006" "CNGA3_000246" "g.99008316G>A" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98391853G>A" "" "NA" ""
"0000920450" "0" "70" "2" "99008316" "99008316" "subst" "0" "00006" "CNGA3_000246" "g.99008316G>A" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_Moderate, PS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98391853G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000920451" "0" "90" "2" "99008430" "99008430" "subst" "0" "00006" "CNGA3_000064" "g.99008430A>G" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98391967A>G" "" "NA" ""
"0000920452" "0" "70" "2" "99008430" "99008430" "subst" "0" "00006" "CNGA3_000064" "g.99008430A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_mod, PM5_sup, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391967A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000920453" "0" "90" "2" "99008431" "99008431" "subst" "0" "00006" "CNGA3_000211" "g.99008431C>G" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98391968C>G" "" "NA" ""
"0000920454" "0" "90" "2" "99008431" "99008431" "subst" "0" "00006" "CNGA3_000211" "g.99008431C>G" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PP3_Strong, PM2_Moderate, PP2_Supporting, PP1_supporting, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391968C>G" "" "pathogenic (recessive)" ""
"0000920455" "0" "70" "2" "99008431" "99008431" "subst" "0" "00006" "CNGA3_000119" "g.99008431C>T" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98391968C>T" "" "NA" "ACMG"
"0000920456" "0" "70" "2" "99008431" "99008431" "subst" "0" "00006" "CNGA3_000119" "g.99008431C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_mod, PM5_sup, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391968C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000920457" "0" "70" "2" "99008438" "99008438" "subst" "2.0349E-5" "00006" "CNGA3_000302" "g.99008438G>T" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98391975G>T" "" "NA" ""
"0000920458" "0" "50" "2" "99008438" "99008438" "subst" "2.0349E-5" "00006" "CNGA3_000302" "g.99008438G>T" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PM2_Moderate, PP3_Supporting, PS3_Supporting" "SUMMARY record" "" "" "0" "" "" "g.98391975G>T" "VCV001062974" "VUS" "ACMG"
"0000920459" "0" "90" "2" "99012305" "99012305" "subst" "0" "00006" "CNGA3_000120" "g.99012305A>C" "" "{PMID:Reuter 2021:36801918}" "" "" "analysis variant in in vitro mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.98395842A>C" "" "NA" ""
"0000920460" "0" "90" "2" "99012305" "99012305" "subst" "0" "00006" "CNGA3_000120" "g.99012305A>C" "" "" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PVS1_Strong, PM2_Moderate; PP3_supporting, PS3_Strong" "SUMMARY record" "" "" "0" "" "" "g.98395842A>C" "" "pathogenic (recessive)" "ACMG"
"0000928670" "0" "50" "2" "99012747" "99012747" "subst" "0" "02327" "CNGA3_000086" "g.99012747C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000933600" "0" "90" "2" "99012861" "99012861" "subst" "4.08063E-5" "04552" "CNGA3_000099" "g.99012861C>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs137852608" "0" "" "" "g.98396398C>T" "{CV:9479}" "pathogenic" "ACMG"
"0000933601" "0" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "04552" "CNGA3_000053" "g.99013218G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs104893619" "0" "" "" "g.98396755G>A" "{CV:c.1585G>A}" "pathogenic" "ACMG"
"0000954013" "11" "70" "2" "99012823" "99012823" "subst" "0" "00006" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.98396360G>T" "" "likely pathogenic" ""
"0000954080" "11" "70" "2" "99012912" "99012912" "subst" "0.000399605" "00006" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "likely pathogenic" ""
"0000954081" "21" "70" "2" "99006224" "99006224" "subst" "4.06138E-6" "00006" "CNGA3_000085" "g.99006224C>G" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.98389761C>G" "" "likely pathogenic" ""
"0000957971" "0" "90" "2" "99006160" "99006163" "del" "0" "00006" "CNGA3_000076" "g.99006160_99006163del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.98389697_98389700del" "" "pathogenic (recessive)" "ACMG"
"0000957975" "0" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00006" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396000G>A" "" "pathogenic (recessive)" "ACMG"
"0000957976" "0" "70" "2" "99012455" "99012455" "subst" "3.24923E-5" "00006" "CNGA3_000032" "g.99012455G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2" "Germline" "" "" "0" "" "" "g.98395992G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000957982" "0" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396811C>A" "9478" "pathogenic (recessive)" "ACMG"
"0000957983" "0" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" "ACMG"
"0000957984" "0" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396811C>A" "9478" "pathogenic (recessive)" "ACMG"
"0000957985" "0" "90" "2" "99013382" "99013382" "del" "0" "00006" "CNGA3_000307" "g.99013382del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.98396919del" "" "pathogenic (recessive)" "ACMG"
"0000957986" "0" "90" "2" "99012654" "99012654" "subst" "8.12163E-6" "00006" "CNGA3_000096" "g.99012654T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396191T>C" "866559" "pathogenic (recessive)" "ACMG"
"0000958113" "0" "90" "2" "99013327" "99013327" "subst" "0.000154434" "00006" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396864C>T" "867082" "pathogenic (recessive)" "ACMG"
"0000958388" "0" "90" "2" "99012411" "99012411" "dup" "0" "00006" "CNGA3_000077" "g.99012411dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98395948dup" "" "pathogenic (recessive)" "ACMG"
"0000958391" "0" "90" "2" "99012618" "99012618" "subst" "0" "00006" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396155G>T" "" "pathogenic (recessive)" "ACMG"
"0000958394" "0" "90" "2" "99012462" "99012462" "subst" "0.000105615" "00006" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic (recessive)" "ACMG"
"0000958397" "0" "90" "2" "99012460" "99012460" "subst" "0" "00006" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98395997A>G" "156335" "pathogenic (recessive)" "ACMG"
"0000958399" "0" "90" "2" "99012993" "99012993" "subst" "0" "00006" "CNGA3_000159" "g.99012993A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.98396530A>T" "" "pathogenic (recessive)" "ACMG"
"0000958403" "0" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "00006" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98395948G>A" "689726" "likely pathogenic (recessive)" "ACMG"
"0000958404" "0" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "00006" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396018G>A" "" "pathogenic (recessive)" "ACMG"
"0000958405" "0" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00006" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396017C>T" "9474" "pathogenic (recessive)" "ACMG"
"0000958826" "0" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" "ACMG"
"0000959037" "0" "50" "2" "99013251" "99013251" "subst" "0.00139811" "00006" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.98396788G>A" "" "VUS" "ACMG"
"0000959261" "0" "50" "2" "99006150" "99006150" "subst" "0" "00006" "CNGA3_000207" "g.99006150T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2" "Germline" "" "" "0" "" "" "g.98389687T>G" "" "VUS" "ACMG"
"0000959312" "0" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" "ACMG"
"0000962359" "0" "90" "2" "99013076" "99013076" "dup" "0" "02327" "CNGA3_000093" "g.99013076dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000962360" "0" "90" "2" "99013218" "99013218" "subst" "6.50745E-5" "02327" "CNGA3_000053" "g.99013218G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000962361" "0" "90" "2" "99013278" "99013278" "subst" "4.06349E-6" "02327" "CNGA3_000292" "g.99013278G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000962362" "0" "50" "2" "99013440" "99013440" "subst" "3.25927E-5" "02327" "CNGA3_000308" "g.99013440C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000971697" "0" "30" "2" "98986506" "98986506" "subst" "3.25386E-5" "00006" "CNGA3_000309" "g.98986506G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98370043G>A" "" "likely benign" ""
"0000971698" "0" "30" "2" "98986518" "98986518" "subst" "7.33174E-5" "00006" "CNGA3_000310" "g.98986518G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98370055G>A" "" "likely benign" ""
"0000971699" "0" "30" "2" "98994158" "98994158" "subst" "0.000208269" "00006" "CNGA3_000311" "g.98994158C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98377695C>T" "" "likely benign" ""
"0000971700" "0" "30" "2" "98994202" "98994202" "subst" "4.07704E-6" "00006" "CNGA3_000312" "g.98994202A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98377739A>G" "" "likely benign" ""
"0000971701" "0" "30" "2" "98996706" "98996706" "subst" "0.00012589" "00006" "CNGA3_000151" "g.98996706C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98380243C>T" "" "likely benign" ""
"0000971702" "0" "70" "2" "98996738" "98996738" "subst" "2.43665E-5" "00006" "CNGA3_000084" "g.98996738G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP5_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98380275G>A" "" "likely pathogenic (recessive)" ""
"0000971703" "0" "10" "2" "98996775" "98996775" "subst" "0.000621476" "00006" "CNGA3_000009" "g.98996775A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG BP5_sup, BP6_strong, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98380312A>G" "" "benign" ""
"0000971704" "0" "30" "2" "98996780" "98996780" "subst" "1.2186E-5" "00006" "CNGA3_000313" "g.98996780A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98380317A>G" "" "likely benign" ""
"0000971705" "0" "30" "2" "98999895" "98999895" "subst" "0.000296524" "00006" "CNGA3_000010" "g.98999895C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98383432C>G" "" "likely benign" ""
"0000971706" "0" "30" "2" "99006142" "99006142" "subst" "5.27876E-5" "00006" "CNGA3_000314" "g.99006142T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389679T>G" "" "likely benign" ""
"0000971707" "0" "30" "2" "99006144" "99006144" "subst" "0.000397934" "00006" "CNGA3_000011" "g.99006144C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_sup, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389681C>T" "" "likely benign" ""
"0000971708" "0" "70" "2" "99006149" "99006149" "subst" "4.46664E-5" "00006" "CNGA3_000315" "g.99006149G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389686G>A" "" "likely pathogenic (recessive)" ""
"0000971709" "0" "70" "2" "99006150" "99006150" "subst" "0" "00006" "CNGA3_000207" "g.99006150T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389687T>G" "" "likely pathogenic (recessive)" ""
"0000971710" "0" "70" "2" "99006184" "99006184" "subst" "4.06081E-6" "00006" "CNGA3_000061" "g.99006184G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, PP2_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389721G>T" "" "likely pathogenic (recessive)" ""
"0000971711" "0" "70" "2" "99006207" "99006207" "subst" "0" "00006" "CNGA3_000145" "g.99006207T>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, PP2_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389744T>A" "" "likely pathogenic (recessive)" ""
"0000971712" "0" "90" "2" "99006215" "99006215" "subst" "0" "00006" "CNGA3_000261" "g.99006215A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, PP2_sup, PM5_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389752A>G" "" "pathogenic (recessive)" ""
"0000971713" "0" "30" "2" "99006224" "99006224" "subst" "4.06138E-6" "00006" "CNGA3_000085" "g.99006224C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, PP2_sup, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389761C>G" "" "likely benign" ""
"0000971714" "0" "90" "2" "99006231" "99006231" "subst" "0" "00006" "CNGA3_000103" "g.99006231T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP5_strong, PM2_mod, PM1_sup, PP2_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98389768T>C" "" "pathogenic (recessive)" ""
"0000971715" "0" "70" "2" "99008344" "99008344" "subst" "0" "00006" "CNGA3_000316" "g.99008344T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391881T>C" "" "likely pathogenic (recessive)" ""
"0000971716" "0" "70" "2" "99008347" "99008347" "subst" "0" "00006" "CNGA3_000186" "g.99008347A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391884A>G" "" "likely pathogenic (recessive)" ""
"0000971717" "0" "90" "2" "99008349" "99008349" "subst" "0" "00006" "CNGA3_000317" "g.99008349T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, PP5_strong, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391886T>C" "" "pathogenic (recessive)" ""
"0000971718" "0" "70" "2" "99008369" "99008369" "subst" "4.06134E-6" "00006" "CNGA3_000264" "g.99008369G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391906G>T" "" "likely pathogenic (recessive)" ""
"0000971719" "0" "70" "2" "99008385" "99008385" "subst" "0" "00006" "CNGA3_000175" "g.99008385T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, PP5_sup, BP4_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391922T>C" "" "likely pathogenic (recessive)" ""
"0000971720" "0" "70" "2" "99008393" "99008393" "subst" "4.06223E-6" "00006" "CNGA3_000189" "g.99008393T>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391930T>A" "" "likely pathogenic (recessive)" ""
"0000971721" "0" "70" "2" "99008409" "99008409" "subst" "0" "00006" "CNGA3_000318" "g.99008409G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391946G>C" "" "likely pathogenic (recessive)" ""
"0000971722" "0" "70" "2" "99008424" "99008424" "subst" "0" "00006" "CNGA3_000210" "g.99008424G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391961G>C" "" "likely pathogenic (recessive)" ""
"0000971723" "0" "90" "2" "99008427" "99008427" "subst" "3.25288E-5" "00006" "CNGA3_000046" "g.99008427C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM5_mod, PP3_sup, PP2_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391964C>G" "" "pathogenic (recessive)" ""
"0000971724" "0" "90" "2" "99008428" "99008428" "subst" "4.88087E-5" "00006" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP5_strong, PP1_sup, PM2_mod, PM5_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98391965G>A" "" "pathogenic (recessive)" ""
"0000971725" "0" "70" "2" "99012337" "99012337" "subst" "0" "00006" "CNGA3_000176" "g.99012337A>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395874A>T" "" "likely pathogenic (recessive)" ""
"0000971726" "0" "30" "2" "99012367" "99012367" "subst" "4.46697E-5" "00006" "CNGA3_000092" "g.99012367C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395904C>T" "" "likely benign" ""
"0000971727" "0" "10" "2" "99012373" "99012373" "subst" "0.00112897" "00006" "CNGA3_000017" "g.99012373C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG BS1_strong, PP2_sup, BP6_sup, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395910C>T" "" "benign" ""
"0000971728" "0" "70" "2" "99012376" "99012376" "subst" "0" "00006" "CNGA3_000267" "g.99012376A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395913A>G" "" "likely pathogenic (recessive)" ""
"0000971729" "0" "70" "2" "99012379" "99012379" "subst" "0" "00006" "CNGA3_000094" "g.99012379T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395916T>C" "" "likely pathogenic (recessive)" ""
"0000971730" "0" "70" "2" "99012388" "99012388" "subst" "0" "00006" "CNGA3_000190" "g.99012388A>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395925A>C" "" "likely pathogenic (recessive)" ""
"0000971731" "0" "70" "2" "99012405" "99012405" "subst" "0" "00006" "CNGA3_000269" "g.99012405C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM5_sup, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395942C>G" "" "likely pathogenic (recessive)" ""
"0000971732" "0" "70" "2" "99012406" "99012406" "subst" "0" "00006" "CNGA3_000121" "g.99012406C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395943C>G" "" "likely pathogenic (recessive)" ""
"0000971733" "0" "90" "2" "99012411" "99012411" "subst" "8.12189E-6" "00006" "CNGA3_000231" "g.99012411G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM5_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395948G>C" "" "pathogenic (recessive)" ""
"0000971734" "0" "70" "2" "99012417" "99012417" "subst" "0" "00006" "CNGA3_000270" "g.99012417G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395954G>C" "" "likely pathogenic (recessive)" ""
"0000971735" "0" "90" "2" "99012420" "99012420" "subst" "0" "00006" "CNGA3_000095" "g.99012420T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP5_strong, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395957T>G" "" "pathogenic (recessive)" ""
"0000971736" "0" "30" "2" "99012429" "99012429" "subst" "0.000239592" "00006" "CNGA3_000152" "g.99012429G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395966G>A" "" "likely benign" ""
"0000971737" "0" "90" "2" "99012444" "99012444" "subst" "0.000121831" "00006" "CNGA3_000047" "g.99012444C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PP5_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395981C>G" "" "pathogenic (recessive)" ""
"0000971738" "0" "90" "2" "99012444" "99012444" "subst" "0" "00006" "CNGA3_000234" "g.99012444C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395981C>T" "" "pathogenic (recessive)" ""
"0000971739" "0" "90" "2" "99012444" "99012444" "subst" "4.06105E-6" "00006" "CNGA3_000271" "g.99012444C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395981C>A" "" "pathogenic (recessive)" ""
"0000971740" "0" "90" "2" "99012454" "99012454" "subst" "0" "00006" "CNGA3_000123" "g.99012454G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395991G>A" "" "pathogenic (recessive)" ""
"0000971741" "0" "90" "2" "99012455" "99012455" "subst" "3.24923E-5" "00006" "CNGA3_000032" "g.99012455G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PM5_mod, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395992G>T" "" "pathogenic (recessive)" ""
"0000971742" "0" "90" "2" "99012460" "99012460" "subst" "0" "00006" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP1_sup, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395997A>G" "" "pathogenic (recessive)" ""
"0000971743" "0" "90" "2" "99012462" "99012462" "subst" "0" "00006" "CNGA3_000157" "g.99012462C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM5_mod, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98395999C>G" "" "pathogenic (recessive)" ""
"0000971744" "0" "90" "2" "99012466" "99012466" "subst" "4.0622E-6" "00006" "CNGA3_000124" "g.99012466T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396003T>C" "" "pathogenic (recessive)" ""
"0000971745" "0" "90" "2" "99012537" "99012537" "subst" "0" "00006" "CNGA3_000049" "g.99012537A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PM5_sup, PP3_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396074A>G" "" "pathogenic (recessive)" ""
"0000971746" "0" "90" "2" "99012539" "99012539" "subst" "4.06062E-6" "00006" "CNGA3_000178" "g.99012539G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_sup, PP3_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396076G>T" "" "pathogenic (recessive)" ""
"0000971747" "0" "90" "2" "99012540" "99012540" "subst" "4.06058E-6" "00006" "CNGA3_000319" "g.99012540A>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396077A>T" "" "pathogenic (recessive)" ""
"0000971748" "0" "90" "2" "99012578" "99012578" "subst" "0" "00006" "CNGA3_000161" "g.99012578C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396115C>G" "" "pathogenic (recessive)" ""
"0000971749" "0" "90" "2" "99012585" "99012585" "subst" "1.21826E-5" "00006" "CNGA3_000004" "g.99012585G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396122G>A" "" "pathogenic (recessive)" ""
"0000971750" "0" "90" "2" "99012598" "99012598" "subst" "0" "00006" "CNGA3_000126" "g.99012598T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396135T>C" "" "pathogenic (recessive)" ""
"0000971751" "0" "90" "2" "99012600" "99012600" "subst" "5.685E-5" "00006" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PS4_mod, PP5_mod, PM1_mod, PP2_sup, PM2_mod, PM5_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396137G>C" "" "pathogenic (recessive)" ""
"0000971752" "0" "90" "2" "99012601" "99012601" "subst" "0" "00006" "CNGA3_000235" "g.99012601C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396138C>A" "" "pathogenic (recessive)" ""
"0000971753" "0" "90" "2" "99012616" "99012616" "subst" "8.12143E-6" "00006" "CNGA3_000275" "g.99012616T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396153T>C" "" "pathogenic (recessive)" ""
"0000971754" "0" "90" "2" "99012618" "99012618" "subst" "0" "00006" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PP5_strong, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396155G>T" "" "pathogenic (recessive)" ""
"0000971755" "0" "90" "2" "99012622" "99012622" "subst" "0" "00006" "CNGA3_000127" "g.99012622T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396159T>C" "" "pathogenic (recessive)" ""
"0000971756" "0" "90" "2" "99012624" "99012624" "subst" "0" "00006" "CNGA3_000144" "g.99012624G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396161G>C" "" "pathogenic (recessive)" ""
"0000971757" "0" "90" "2" "99012625" "99012625" "subst" "4.06081E-6" "00006" "CNGA3_000276" "g.99012625G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396162G>A" "" "pathogenic (recessive)" ""
"0000971758" "0" "90" "2" "99012634" "99012634" "subst" "0" "00006" "CNGA3_000128" "g.99012634C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396171C>T" "" "pathogenic (recessive)" ""
"0000971759" "0" "70" "2" "99012638" "99012638" "subst" "0" "00006" "CNGA3_000003" "g.99012638G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396175G>T" "" "likely pathogenic (recessive)" ""
"0000971760" "0" "90" "2" "99012639" "99012639" "subst" "0" "00006" "CNGA3_000237" "g.99012639G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396176G>T" "" "pathogenic (recessive)" ""
"0000971761" "0" "90" "2" "99012667" "99012667" "subst" "3.24868E-5" "00006" "CNGA3_000320" "g.99012667A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP5_sup, BP4_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396204A>G" "" "pathogenic (recessive)" ""
"0000971762" "0" "90" "2" "99012672" "99012672" "subst" "1.21834E-5" "00006" "CNGA3_000191" "g.99012672C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396209C>T" "" "pathogenic (recessive)" ""
"0000971763" "0" "70" "2" "99012681" "99012681" "subst" "0" "00006" "CNGA3_000321" "g.99012681A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396218A>G" "" "likely pathogenic (recessive)" ""
"0000971764" "0" "90" "2" "99012691" "99012691" "subst" "0" "00006" "CNGA3_000238" "g.99012691T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396228T>C" "" "pathogenic (recessive)" ""
"0000971765" "0" "90" "2" "99012694" "99012694" "subst" "1.62481E-5" "00006" "CNGA3_000278" "g.99012694A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396231A>G" "" "pathogenic (recessive)" ""
"0000971766" "0" "90" "2" "99012696" "99012696" "subst" "1.21856E-5" "00006" "CNGA3_000279" "g.99012696A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396233A>G" "" "pathogenic (recessive)" ""
"0000971767" "0" "90" "2" "99012703" "99012703" "subst" "0" "00006" "CNGA3_000148" "g.99012703A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396240A>G" "" "pathogenic (recessive)" ""
"0000971768" "0" "90" "2" "99012709" "99012709" "subst" "0" "00006" "CNGA3_000280" "g.99012709C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396246C>T" "" "pathogenic (recessive)" ""
"0000971769" "0" "90" "2" "99012718" "99012718" "subst" "0" "00006" "CNGA3_000322" "g.99012718C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PP5_mod, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396255C>T" "" "pathogenic (recessive)" ""
"0000971770" "0" "90" "2" "99012736" "99012736" "subst" "0" "00006" "CNGA3_000067" "g.99012736A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396273A>G" "" "pathogenic (recessive)" ""
"0000971771" "0" "90" "2" "99012747" "99012747" "subst" "0" "00006" "CNGA3_000086" "g.99012747C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_mod, PP3_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396284C>G" "" "pathogenic (recessive)" ""
"0000971772" "0" "90" "2" "99012748" "99012748" "subst" "0" "00006" "CNGA3_000037" "g.99012748C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396285C>T" "" "pathogenic (recessive)" ""
"0000971773" "0" "90" "2" "99012750" "99012750" "subst" "4.0815E-5" "00006" "CNGA3_000282" "g.99012750G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396287G>A" "" "pathogenic (recessive)" ""
"0000971774" "0" "90" "2" "99012757" "99012757" "subst" "0" "00006" "CNGA3_000192" "g.99012757A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396294A>G" "" "pathogenic (recessive)" ""
"0000971775" "0" "90" "2" "99012795" "99012795" "subst" "0" "00006" "CNGA3_000205" "g.99012795G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396332G>A" "" "pathogenic (recessive)" ""
"0000971776" "0" "90" "2" "99012796" "99012796" "subst" "0" "00006" "CNGA3_000194" "g.99012796G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396333G>A" "" "pathogenic (recessive)" ""
"0000971777" "0" "90" "2" "99012796" "99012796" "subst" "0" "00006" "CNGA3_000193" "g.99012796G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396333G>T" "" "pathogenic (recessive)" ""
"0000971778" "0" "90" "2" "99012823" "99012823" "subst" "0" "00006" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396360G>T" "" "pathogenic (recessive)" ""
"0000971779" "0" "90" "2" "99012834" "99012834" "subst" "4.0797E-6" "00006" "CNGA3_000098" "g.99012834T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396371T>C" "" "pathogenic (recessive)" ""
"0000971780" "0" "90" "2" "99012876" "99012876" "subst" "0" "00006" "CNGA3_000111" "g.99012876G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396413G>C" "" "pathogenic (recessive)" ""
"0000971781" "0" "90" "2" "99012887" "99012887" "subst" "0" "00006" "CNGA3_000323" "g.99012887T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396424T>G" "" "pathogenic (recessive)" ""
"0000971782" "0" "90" "2" "99012888" "99012888" "subst" "0" "00006" "CNGA3_000180" "g.99012888T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396425T>C" "" "pathogenic (recessive)" ""
"0000971783" "0" "90" "2" "99012889" "99012889" "subst" "0" "00006" "CNGA3_000163" "g.99012889C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396426C>T" "" "pathogenic (recessive)" ""
"0000971784" "0" "90" "2" "99012901" "99012901" "subst" "0" "00006" "CNGA3_000283" "g.99012901A>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396438A>C" "" "pathogenic (recessive)" ""
"0000971785" "0" "90" "2" "99012904" "99012904" "subst" "0" "00006" "CNGA3_000324" "g.99012904T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PP5_mod, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396441T>C" "" "pathogenic (recessive)" ""
"0000971786" "0" "90" "2" "99012913" "99012913" "subst" "4.0779E-6" "00006" "CNGA3_000325" "g.99012913G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_mod, PP3_sup, PP5_mod, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396450G>T" "" "pathogenic (recessive)" ""
"0000971787" "0" "90" "2" "99012919" "99012919" "subst" "0" "00006" "CNGA3_000243" "g.99012919T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396456T>C" "" "pathogenic (recessive)" ""
"0000971788" "0" "90" "2" "99012927" "99012927" "subst" "0" "00006" "CNGA3_000196" "g.99012927G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396464G>T" "" "pathogenic (recessive)" ""
"0000971789" "0" "50" "2" "99012940" "99012940" "subst" "4.48058E-5" "00006" "CNGA3_000132" "g.99012940G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_mod, PP3_sup, BP2_sup, BS3_strong; due to the provided functional evidence (aequorin-based bioassay) and available genotype data, we suggest the variants does not have a deleterious effect on CNGA3 protein function even if it is still deemed to be of uncertain significance in the ACMG/AMP classification system" "SUMMARY record" "" "" "0" "" "" "g.98396477G>A" "" "VUS (!)" ""
"0000971790" "0" "90" "2" "99012952" "99012952" "subst" "4.0704E-6" "00006" "CNGA3_000181" "g.99012952G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396489G>C" "" "pathogenic (recessive)" ""
"0000971791" "0" "70" "2" "99012976" "99012976" "subst" "0.000199268" "00006" "CNGA3_000285" "g.99012976A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396513A>G" "" "likely pathogenic (recessive)" ""
"0000971792" "0" "90" "2" "99013024" "99013024" "subst" "0" "00006" "CNGA3_000149" "g.99013024T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396561T>G" "" "pathogenic (recessive)" ""
"0000971793" "0" "70" "2" "99013045" "99013045" "subst" "1.22285E-5" "00006" "CNGA3_000220" "g.99013045A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396582A>G" "" "likely pathogenic (recessive)" ""
"0000971794" "0" "70" "2" "99013068" "99013069" "delins" "0" "00006" "CNGA3_000326" "g.99013068_99013069delinsGT" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396605_98396606delinsGT" "" "likely pathogenic (recessive)" ""
"0000971795" "0" "90" "2" "99013090" "99013090" "subst" "0" "00006" "CNGA3_000170" "g.99013090G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396627G>A" "" "pathogenic (recessive)" ""
"0000971796" "0" "90" "2" "99013099" "99013099" "subst" "0" "00006" "CNGA3_000289" "g.99013099G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396636G>T" "" "pathogenic (recessive)" ""
"0000971797" "0" "90" "2" "99013146" "99013146" "subst" "0" "00006" "CNGA3_000134" "g.99013146C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396683C>G" "" "pathogenic (recessive)" ""
"0000971798" "0" "90" "2" "99013153" "99013153" "subst" "1.62784E-5" "00006" "CNGA3_000042" "g.99013153A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396690A>G" "" "pathogenic (recessive)" ""
"0000971799" "0" "90" "2" "99013168" "99013168" "subst" "0" "00006" "CNGA3_000113" "g.99013168A>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396705A>T" "" "pathogenic (recessive)" ""
"0000971800" "0" "90" "2" "99013170" "99013170" "subst" "4.07196E-6" "00006" "CNGA3_000247" "g.99013170G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396707G>A" "" "pathogenic (recessive)" ""
"0000971801" "0" "90" "2" "99013173" "99013173" "subst" "0" "00006" "CNGA3_000327" "g.99013173G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396710G>A" "" "pathogenic (recessive)" ""
"0000971802" "0" "90" "2" "99013174" "99013174" "subst" "0" "00006" "CNGA3_000224" "g.99013174A>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396711A>T" "" "pathogenic (recessive)" ""
"0000971803" "0" "90" "2" "99013189" "99013189" "subst" "0" "00006" "CNGA3_000136" "g.99013189T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396726T>C" "" "pathogenic (recessive)" ""
"0000971804" "0" "90" "2" "99013190" "99013190" "subst" "4.88404E-5" "00006" "CNGA3_000071" "g.99013190G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396727G>A" "" "pathogenic (recessive)" ""
"0000971805" "0" "90" "2" "99013206" "99013206" "subst" "0" "00006" "CNGA3_000142" "g.99013206G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396743G>A" "" "pathogenic (recessive)" ""
"0000971806" "0" "90" "2" "99013212" "99013212" "subst" "0" "00006" "CNGA3_000002" "g.99013212C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_mod, PP3_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396749C>A" "" "pathogenic (recessive)" ""
"0000971807" "0" "90" "2" "99013213" "99013213" "subst" "8.13504E-6" "00006" "CNGA3_000227" "g.99013213T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PM5_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396750T>G" "" "pathogenic (recessive)" ""
"0000971808" "0" "90" "2" "99013230" "99013230" "subst" "8.13028E-6" "00006" "CNGA3_000137" "g.99013230G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP5_strong, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396767G>C" "" "pathogenic (recessive)" ""
"0000971809" "0" "30" "2" "99013248" "99013248" "subst" "1.62591E-5" "00006" "CNGA3_000291" "g.99013248G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, PP2_sup, PP3_sup, BP5_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396785G>A" "" "likely benign" ""
"0000971810" "0" "10" "2" "99013251" "99013251" "subst" "0.00139811" "00006" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG BS1_strong, PM1_sup, PP2_sup, PP3_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396788G>A" "" "benign" ""
"0000971811" "0" "90" "2" "99013254" "99013254" "subst" "0" "00006" "CNGA3_000150" "g.99013254C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM2_mod, PM1_mod, PP2_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396791C>T" "" "pathogenic (recessive)" ""
"0000971812" "0" "90" "2" "99013273" "99013273" "subst" "0" "00006" "CNGA3_000054" "g.99013273T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM5_mod, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PP5_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396810T>G" "" "pathogenic (recessive)" ""
"0000971813" "0" "90" "2" "99013275" "99013275" "subst" "2.43845E-5" "00006" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PP5_strong, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396812G>A" "" "pathogenic (recessive)" ""
"0000971814" "0" "90" "2" "99013291" "99013291" "subst" "4.06349E-6" "00006" "CNGA3_000293" "g.99013291T>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396828T>A" "" "pathogenic (recessive)" ""
"0000971815" "0" "90" "2" "99013312" "99013312" "subst" "2.84474E-5" "00006" "CNGA3_000328" "g.99013312C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396849C>T" "" "pathogenic (recessive)" ""
"0000971816" "0" "90" "2" "99013315" "99013315" "subst" "0" "00006" "CNGA3_000182" "g.99013315G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396852G>A" "" "pathogenic (recessive)" ""
"0000971817" "0" "90" "2" "99013319" "99013319" "subst" "0" "00006" "CNGA3_000329" "g.99013319C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PP5_mod, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396856C>A" "" "pathogenic (recessive)" ""
"0000971818" "0" "90" "2" "99013338" "99013338" "subst" "8.12671E-6" "00006" "CNGA3_000073" "g.99013338C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PM5_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396875C>T" "" "pathogenic (recessive)" ""
"0000971819" "0" "90" "2" "99013341" "99013341" "subst" "0" "00006" "CNGA3_000295" "g.99013341A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396878A>G" "" "pathogenic (recessive)" ""
"0000971820" "0" "90" "2" "99013342" "99013342" "subst" "0" "00006" "CNGA3_000139" "g.99013342G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396879G>A" "" "pathogenic (recessive)" ""
"0000971821" "0" "90" "2" "99013342" "99013342" "subst" "0" "00006" "CNGA3_000229" "g.99013342G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396879G>T" "" "pathogenic (recessive)" ""
"0000971822" "0" "90" "2" "99013345" "99013345" "subst" "8.12592E-6" "00006" "CNGA3_000330" "g.99013345T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396882T>C" "" "pathogenic (recessive)" ""
"0000971823" "0" "90" "2" "99013350" "99013350" "subst" "0" "00006" "CNGA3_000296" "g.99013350T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP1_sup, PP2_sup, PM2_mod, PM5_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396887T>C" "" "pathogenic (recessive)" ""
"0000971824" "0" "90" "2" "99013369" "99013369" "subst" "0" "00006" "CNGA3_000297" "g.99013369T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396906T>G" "" "pathogenic (recessive)" ""
"0000971825" "0" "90" "2" "99013404" "99013404" "subst" "0" "00006" "CNGA3_000298" "g.99013404T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396941T>C" "" "pathogenic (recessive)" ""
"0000971826" "0" "90" "2" "99013408" "99013408" "subst" "4.06435E-6" "00006" "CNGA3_000299" "g.99013408C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM1_mod, PP2_sup, PM2_mod, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396945C>T" "" "pathogenic (recessive)" ""
"0000971827" "0" "50" "2" "99013417" "99013417" "subst" "0" "00006" "CNGA3_000331" "g.99013417A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, PP2_sup, PP3_sup, BS3_strong; due to the provided functional evidence (aequorin-based bioassay) and available genotype data, we suggest the variants does not have a deleterious effect on CNGA3 protein function even if it is still deemed to be of uncertain significance in the ACMG/AMP classification system" "SUMMARY record" "" "" "0" "" "" "g.98396954A>G" "" "VUS (!)" ""
"0000971828" "0" "70" "2" "99013426" "99013426" "subst" "0" "00006" "CNGA3_000201" "g.99013426T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM1_sup, PP2_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396963T>G" "" "likely pathogenic (recessive)" ""
"0000971829" "0" "90" "2" "99013438" "99013438" "subst" "0" "00006" "CNGA3_000244" "g.99013438G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM2_mod, PM1_sup, PP2_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98396975G>A" "" "pathogenic (recessive)" ""
"0000971830" "0" "30" "2" "99013478" "99013478" "subst" "0" "00006" "CNGA3_000332" "g.99013478G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397015G>T" "" "likely benign" ""
"0000971831" "0" "30" "2" "99013489" "99013489" "subst" "1.63504E-5" "00006" "CNGA3_000154" "g.99013489C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397026C>T" "" "likely benign" ""
"0000971832" "0" "70" "2" "99013495" "99013495" "subst" "1.22405E-5" "00006" "CNGA3_000333" "g.99013495C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, BP4_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397032C>A" "" "likely pathogenic (recessive)" ""
"0000971833" "0" "70" "2" "99013510" "99013510" "subst" "0" "00006" "CNGA3_000140" "g.99013510T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PM2_mod, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397047T>G" "" "likely pathogenic (recessive)" ""
"0000971834" "0" "70" "2" "99013522" "99013522" "subst" "0" "00006" "CNGA3_000300" "g.99013522T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, PP3_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397059T>C" "" "likely pathogenic (recessive)" ""
"0000971835" "0" "70" "2" "99013564" "99013564" "subst" "0" "00006" "CNGA3_000115" "g.99013564T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397101T>C" "" "likely pathogenic (recessive)" ""
"0000971836" "0" "50" "2" "99013570" "99013570" "subst" "2.44109E-5" "00006" "CNGA3_000334" "g.99013570G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, BS3_strong; due to the provided functional evidence (aequorin-based bioassay) and available genotype data, we suggest the variants does not have a deleterious effect on CNGA3 protein function even if it is still deemed to be of uncertain significance in the ACMG/AMP classification system" "SUMMARY record" "" "" "0" "" "" "g.98397107G>A" "" "VUS (!)" ""
"0000971837" "0" "70" "2" "99013582" "99013582" "subst" "0.000195279" "00006" "CNGA3_000026" "g.99013582A>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397119A>C" "" "likely pathogenic (recessive)" ""
"0000971838" "0" "30" "2" "99013601" "99013601" "subst" "0.000272712" "00006" "CNGA3_000335" "g.99013601G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP2_sup, PM2_mod, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397138G>A" "" "likely benign" ""
"0000971839" "0" "90" "2" "99013614" "99013614" "subst" "0.0003421" "00006" "CNGA3_000173" "g.99013614C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PP1_sup, PP5_strong, PM2_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397151C>A" "" "pathogenic (recessive)" ""
"0000971840" "0" "90" "2" "99013615" "99013615" "subst" "2.03613E-5" "00006" "CNGA3_000203" "g.99013615G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PM5_mod, PP3_sup, PP2_sup, PS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397152G>A" "" "pathogenic (recessive)" ""
"0000971841" "0" "50" "2" "99013638" "99013638" "subst" "7.33753E-5" "00006" "CNGA3_000336" "g.99013638G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, BS3_strong; due to the provided functional evidence (aequorin-based bioassay) and available genotype data, we suggest the variants does not have a deleterious effect on CNGA3 protein function even if it is still deemed to be of uncertain significance in the ACMG/AMP classification system" "SUMMARY record" "" "" "0" "" "" "g.98397175G>C" "" "VUS (!)" ""
"0000971842" "0" "30" "2" "99013683" "99013683" "subst" "8.20648E-6" "00006" "CNGA3_000143" "g.99013683G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "ACMG PM2_mod, PP2_sup, BP4_sup, BS3_strong" "SUMMARY record" "" "" "0" "" "" "g.98397220G>A" "" "likely benign" ""
"0000971843" "0" "10" "2" "98986506" "98986506" "subst" "3.25386E-5" "00006" "CNGA3_000309" "g.98986506G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.81±0.05, normalized peak latency 0.89±0.03" "In vitro (cloned)" "" "" "0" "" "" "g.98370043G>A" "" "NA" ""
"0000971844" "0" "10" "2" "98986518" "98986518" "subst" "7.33174E-5" "00006" "CNGA3_000310" "g.98986518G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.78±0.06, normalized peak latency 0.96±0.05" "In vitro (cloned)" "" "" "0" "" "" "g.98370055G>A" "" "NA" ""
"0000971845" "0" "10" "2" "98994158" "98994158" "subst" "0.000208269" "00006" "CNGA3_000311" "g.98994158C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.74±0.04, normalized peak latency 0.85±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98377695C>T" "" "NA" ""
"0000971846" "0" "10" "2" "98994202" "98994202" "subst" "4.07704E-6" "00006" "CNGA3_000312" "g.98994202A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.78±0.04, normalized peak latency 0.96±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98377739A>G" "" "NA" ""
"0000971847" "0" "10" "2" "98994259" "98994259" "subst" "0.000159751" "00006" "CNGA3_000301" "g.98994259G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.85±0.00, normalized peak latency 0.89±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98377796G>A" "" "NA" ""
"0000971848" "0" "10" "2" "98996706" "98996706" "subst" "0.00012589" "00006" "CNGA3_000151" "g.98996706C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.75±0.04, normalized peak latency 0.88±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98380243C>T" "" "NA" ""
"0000971849" "0" "90" "2" "98996738" "98996738" "subst" "2.43665E-5" "00006" "CNGA3_000084" "g.98996738G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.96±0.15, normalized peak latency 1.23±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98380275G>A" "" "NA" ""
"0000971850" "0" "10" "2" "98996775" "98996775" "subst" "0.000621476" "00006" "CNGA3_000009" "g.98996775A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.78±0.01, normalized peak latency 0.90±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98380312A>G" "" "NA" ""
"0000971851" "0" "10" "2" "98996780" "98996780" "subst" "1.2186E-5" "00006" "CNGA3_000313" "g.98996780A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.94±0.11, normalized peak latency 0.83±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98380317A>G" "" "NA" ""
"0000971852" "0" "10" "2" "98999895" "98999895" "subst" "0.000296524" "00006" "CNGA3_000010" "g.98999895C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.86±0.09, normalized peak latency 0.91±0.06" "In vitro (cloned)" "" "" "0" "" "" "g.98383432C>G" "" "NA" ""
"0000971853" "0" "10" "2" "99006142" "99006142" "subst" "5.27876E-5" "00006" "CNGA3_000314" "g.99006142T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.88±0.11, normalized peak latency 0.88±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98389679T>G" "" "NA" ""
"0000971854" "0" "10" "2" "99006144" "99006144" "subst" "0.000397934" "00006" "CNGA3_000011" "g.99006144C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.74±0.12, normalized peak latency 1.02±0.06" "In vitro (cloned)" "" "" "0" "" "" "g.98389681C>T" "" "NA" ""
"0000971855" "0" "90" "2" "99006149" "99006149" "subst" "4.46664E-5" "00006" "CNGA3_000315" "g.99006149G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.63±0.09, normalized peak latency 1.19±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98389686G>A" "" "NA" ""
"0000971856" "0" "90" "2" "99006150" "99006150" "subst" "0" "00006" "CNGA3_000207" "g.99006150T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.07±0.02, normalized peak latency 3.55±0.46" "In vitro (cloned)" "" "" "0" "" "" "g.98389687T>G" "" "NA" ""
"0000971857" "0" "90" "2" "99006184" "99006184" "subst" "4.06081E-6" "00006" "CNGA3_000061" "g.99006184G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.16±0.06, normalized peak latency 2.98±0.13" "In vitro (cloned)" "" "" "0" "" "" "g.98389721G>T" "" "NA" ""
"0000971858" "0" "90" "2" "99006207" "99006207" "subst" "0" "00006" "CNGA3_000145" "g.99006207T>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.05±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98389744T>A" "" "NA" ""
"0000971859" "0" "90" "2" "99006215" "99006215" "subst" "0" "00006" "CNGA3_000261" "g.99006215A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.05±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98389752A>G" "" "NA" ""
"0000971860" "0" "10" "2" "99006224" "99006224" "subst" "4.06138E-6" "00006" "CNGA3_000085" "g.99006224C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.91±0.11, normalized peak latency 0.92±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98389761C>G" "" "NA" ""
"0000971861" "0" "90" "2" "99006231" "99006231" "subst" "0" "00006" "CNGA3_000103" "g.99006231T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98389768T>C" "" "NA" ""
"0000971862" "0" "90" "2" "99006237" "99006237" "subst" "0" "00006" "CNGA3_000262" "g.99006237G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98389774G>A" "" "NA" ""
"0000971863" "0" "90" "2" "99008344" "99008344" "subst" "0" "00006" "CNGA3_000316" "g.99008344T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.04±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98391881T>C" "" "NA" ""
"0000971864" "0" "90" "2" "99008347" "99008347" "subst" "0" "00006" "CNGA3_000186" "g.99008347A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98391884A>G" "" "NA" ""
"0000971865" "0" "90" "2" "99008349" "99008349" "subst" "0" "00006" "CNGA3_000317" "g.99008349T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.04±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98391886T>C" "" "NA" ""
"0000971866" "0" "90" "2" "99008369" "99008369" "subst" "4.06134E-6" "00006" "CNGA3_000264" "g.99008369G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.04±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98391906G>T" "" "NA" ""
"0000971867" "0" "90" "2" "99008385" "99008385" "subst" "0" "00006" "CNGA3_000175" "g.99008385T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00, normalized peak latency 1.70±0.07" "In vitro (cloned)" "" "" "0" "" "" "g.98391922T>C" "" "NA" ""
"0000971868" "0" "90" "2" "99008393" "99008393" "subst" "4.06223E-6" "00006" "CNGA3_000189" "g.99008393T>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98391930T>A" "" "NA" ""
"0000971869" "0" "90" "2" "99008409" "99008409" "subst" "0" "00006" "CNGA3_000318" "g.99008409G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98391946G>C" "" "NA" ""
"0000971870" "0" "90" "2" "99008424" "99008424" "subst" "0" "00006" "CNGA3_000210" "g.99008424G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98391961G>C" "" "NA" ""
"0000971871" "0" "90" "2" "99008427" "99008427" "subst" "3.25288E-5" "00006" "CNGA3_000046" "g.99008427C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98391964C>G" "" "NA" ""
"0000971872" "0" "90" "2" "99008428" "99008428" "subst" "4.88087E-5" "00006" "CNGA3_000118" "g.99008428G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.04±0.01, normalized peak latency 1.76±0.09" "In vitro (cloned)" "" "" "0" "" "" "g.98391965G>A" "" "NA" ""
"0000971873" "0" "90" "2" "99008430" "99008430" "subst" "0" "00006" "CNGA3_000064" "g.99008430A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98391967A>G" "" "NA" ""
"0000971874" "0" "90" "2" "99008431" "99008431" "subst" "0" "00006" "CNGA3_000119" "g.99008431C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98391968C>T" "" "NA" ""
"0000971875" "0" "90" "2" "99012337" "99012337" "subst" "0" "00006" "CNGA3_000176" "g.99012337A>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98395874A>T" "" "NA" ""
"0000971876" "0" "10" "2" "99012367" "99012367" "subst" "4.46697E-5" "00006" "CNGA3_000092" "g.99012367C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.87±0.07, normalized peak latency 0.91±0.05" "In vitro (cloned)" "" "" "0" "" "" "g.98395904C>T" "" "NA" ""
"0000971877" "0" "10" "2" "99012373" "99012373" "subst" "0.00112897" "00006" "CNGA3_000017" "g.99012373C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.76±0.02, normalized peak latency 0.89±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98395910C>T" "" "NA" ""
"0000971878" "0" "90" "2" "99012376" "99012376" "subst" "0" "00006" "CNGA3_000267" "g.99012376A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.09±0.01, normalized peak latency 2.29±0.10" "In vitro (cloned)" "" "" "0" "" "" "g.98395913A>G" "" "NA" ""
"0000971879" "0" "90" "2" "99012379" "99012379" "subst" "0" "00006" "CNGA3_000094" "g.99012379T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.07±0.02, normalized peak latency 2.11±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98395916T>C" "" "NA" ""
"0000971880" "0" "90" "2" "99012388" "99012388" "subst" "0" "00006" "CNGA3_000190" "g.99012388A>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98395925A>C" "" "NA" ""
"0000971881" "0" "90" "2" "99012405" "99012405" "subst" "0" "00006" "CNGA3_000269" "g.99012405C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98395942C>G" "" "NA" ""
"0000971882" "0" "90" "2" "99012406" "99012406" "subst" "0" "00006" "CNGA3_000121" "g.99012406C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98395943C>G" "" "NA" ""
"0000971883" "0" "90" "2" "99012411" "99012411" "subst" "8.12189E-6" "00006" "CNGA3_000231" "g.99012411G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98395948G>C" "" "NA" ""
"0000971884" "0" "90" "2" "99012417" "99012417" "subst" "0" "00006" "CNGA3_000270" "g.99012417G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98395954G>C" "" "NA" ""
"0000971885" "0" "90" "2" "99012420" "99012420" "subst" "0" "00006" "CNGA3_000095" "g.99012420T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98395957T>G" "" "NA" ""
"0000971886" "0" "10" "2" "99012429" "99012429" "subst" "0.000239592" "00006" "CNGA3_000152" "g.99012429G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.88±0.11, normalized peak latency 0.94±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98395966G>A" "" "NA" ""
"0000971887" "0" "90" "2" "99012444" "99012444" "subst" "0.000121831" "00006" "CNGA3_000047" "g.99012444C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.36±0.04, normalized peak latency 1.22±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98395981C>G" "" "NA" ""
"0000971888" "0" "90" "2" "99012444" "99012444" "subst" "0" "00006" "CNGA3_000234" "g.99012444C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.04±0.00, normalized peak latency 2.53±0.39" "In vitro (cloned)" "" "" "0" "" "" "g.98395981C>T" "" "NA" ""
"0000971889" "0" "90" "2" "99012444" "99012444" "subst" "4.06105E-6" "00006" "CNGA3_000271" "g.99012444C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98395981C>A" "" "NA" ""
"0000971890" "0" "90" "2" "99012454" "99012454" "subst" "0" "00006" "CNGA3_000123" "g.99012454G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98395991G>A" "" "NA" ""
"0000971891" "0" "90" "2" "99012455" "99012455" "subst" "3.24923E-5" "00006" "CNGA3_000032" "g.99012455G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98395992G>T" "" "NA" ""
"0000971892" "0" "90" "2" "99012460" "99012460" "subst" "0" "00006" "CNGA3_000213" "g.99012460A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98395997A>G" "" "NA" ""
"0000971893" "0" "90" "2" "99012462" "99012462" "subst" "0" "00006" "CNGA3_000157" "g.99012462C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98395999C>G" "" "NA" ""
"0000971894" "0" "90" "2" "99012466" "99012466" "subst" "4.0622E-6" "00006" "CNGA3_000124" "g.99012466T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396003T>C" "" "NA" ""
"0000971895" "0" "90" "2" "99012537" "99012537" "subst" "0" "00006" "CNGA3_000049" "g.99012537A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396074A>G" "" "NA" ""
"0000971896" "0" "90" "2" "99012539" "99012539" "subst" "4.06062E-6" "00006" "CNGA3_000178" "g.99012539G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396076G>T" "" "NA" ""
"0000971897" "0" "90" "2" "99012540" "99012540" "subst" "4.06058E-6" "00006" "CNGA3_000319" "g.99012540A>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396077A>T" "" "NA" ""
"0000971898" "0" "90" "2" "99012578" "99012578" "subst" "0" "00006" "CNGA3_000161" "g.99012578C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.11±0.02, normalized peak latency 3.85±0.05" "In vitro (cloned)" "" "" "0" "" "" "g.98396115C>G" "" "NA" ""
"0000971899" "0" "90" "2" "99012585" "99012585" "subst" "1.21826E-5" "00006" "CNGA3_000004" "g.99012585G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396122G>A" "" "NA" ""
"0000971900" "0" "90" "2" "99012598" "99012598" "subst" "0" "00006" "CNGA3_000126" "g.99012598T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396135T>C" "" "NA" ""
"0000971901" "0" "90" "2" "99012600" "99012600" "subst" "5.685E-5" "00006" "CNGA3_000104" "g.99012600G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396137G>C" "" "NA" ""
"0000971902" "0" "90" "2" "99012601" "99012601" "subst" "0" "00006" "CNGA3_000235" "g.99012601C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.13±0.03, normalized peak latency 0.35±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98396138C>A" "" "NA" ""
"0000971903" "0" "90" "2" "99012616" "99012616" "subst" "8.12143E-6" "00006" "CNGA3_000275" "g.99012616T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.06±0.01, normalized peak latency 2.53±0.17" "In vitro (cloned)" "" "" "0" "" "" "g.98396153T>C" "" "NA" ""
"0000971904" "0" "90" "2" "99012618" "99012618" "subst" "0" "00006" "CNGA3_000051" "g.99012618G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396155G>T" "" "NA" ""
"0000971905" "0" "90" "2" "99012622" "99012622" "subst" "0" "00006" "CNGA3_000127" "g.99012622T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396159T>C" "" "NA" ""
"0000971906" "0" "90" "2" "99012624" "99012624" "subst" "0" "00006" "CNGA3_000144" "g.99012624G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396161G>C" "" "NA" ""
"0000971907" "0" "90" "2" "99012625" "99012625" "subst" "4.06081E-6" "00006" "CNGA3_000276" "g.99012625G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396162G>A" "" "NA" ""
"0000971908" "0" "90" "2" "99012634" "99012634" "subst" "0" "00006" "CNGA3_000128" "g.99012634C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00, normalized peak latency 2.59±0.17" "In vitro (cloned)" "" "" "0" "" "" "g.98396171C>T" "" "NA" ""
"0000971909" "0" "90" "2" "99012638" "99012638" "subst" "0" "00006" "CNGA3_000003" "g.99012638G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396175G>T" "" "NA" ""
"0000971910" "0" "90" "2" "99012639" "99012639" "subst" "0" "00006" "CNGA3_000237" "g.99012639G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396176G>T" "" "NA" ""
"0000971911" "0" "90" "2" "99012667" "99012667" "subst" "3.24868E-5" "00006" "CNGA3_000320" "g.99012667A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.04±0.00, normalized peak latency 2.53±0.37" "In vitro (cloned)" "" "" "0" "" "" "g.98396204A>G" "" "NA" ""
"0000971912" "0" "90" "2" "99012672" "99012672" "subst" "1.21834E-5" "00006" "CNGA3_000191" "g.99012672C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.21±0.03, normalized peak latency 2.17±0.12" "In vitro (cloned)" "" "" "0" "" "" "g.98396209C>T" "" "NA" ""
"0000971913" "0" "90" "2" "99012681" "99012681" "subst" "0" "00006" "CNGA3_000321" "g.99012681A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01, normalized peak latency 2.84±0.16" "In vitro (cloned)" "" "" "0" "" "" "g.98396218A>G" "" "NA" ""
"0000971914" "0" "90" "2" "99012691" "99012691" "subst" "0" "00006" "CNGA3_000238" "g.99012691T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00, normalized peak latency 1.38±0.12" "In vitro (cloned)" "" "" "0" "" "" "g.98396228T>C" "" "NA" ""
"0000971915" "0" "90" "2" "99012694" "99012694" "subst" "1.62481E-5" "00006" "CNGA3_000278" "g.99012694A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00, normalized peak latency 3.54±0.47" "In vitro (cloned)" "" "" "0" "" "" "g.98396231A>G" "" "NA" ""
"0000971916" "0" "90" "2" "99012696" "99012696" "subst" "1.21856E-5" "00006" "CNGA3_000279" "g.99012696A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396233A>G" "" "NA" ""
"0000971917" "0" "90" "2" "99012703" "99012703" "subst" "0" "00006" "CNGA3_000148" "g.99012703A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396240A>G" "" "NA" ""
"0000971918" "0" "90" "2" "99012709" "99012709" "subst" "0" "00006" "CNGA3_000280" "g.99012709C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396246C>T" "" "NA" ""
"0000971919" "0" "90" "2" "99012718" "99012718" "subst" "0" "00006" "CNGA3_000322" "g.99012718C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.76±0.07, normalized peak latency 1.25±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98396255C>T" "" "NA" ""
"0000971920" "0" "90" "2" "99012736" "99012736" "subst" "0" "00006" "CNGA3_000067" "g.99012736A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.73±0.09, normalized peak latency 1.43±0.10" "In vitro (cloned)" "" "" "0" "" "" "g.98396273A>G" "" "NA" ""
"0000971921" "0" "90" "2" "99012747" "99012747" "subst" "0" "00006" "CNGA3_000086" "g.99012747C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396284C>G" "" "NA" ""
"0000971922" "0" "90" "2" "99012748" "99012748" "subst" "0" "00006" "CNGA3_000037" "g.99012748C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396285C>T" "" "NA" ""
"0000971923" "0" "90" "2" "99012750" "99012750" "subst" "4.0815E-5" "00006" "CNGA3_000282" "g.99012750G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.62±0.02, normalized peak latency 1.32±0.05" "In vitro (cloned)" "" "" "0" "" "" "g.98396287G>A" "" "NA" ""
"0000971924" "0" "90" "2" "99012757" "99012757" "subst" "0" "00006" "CNGA3_000192" "g.99012757A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01, normalized peak latency 3.35±0.31" "In vitro (cloned)" "" "" "0" "" "" "g.98396294A>G" "" "NA" ""
"0000971925" "0" "90" "2" "99012795" "99012795" "subst" "0" "00006" "CNGA3_000205" "g.99012795G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396332G>A" "" "NA" ""
"0000971926" "0" "90" "2" "99012796" "99012796" "subst" "0" "00006" "CNGA3_000194" "g.99012796G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396333G>A" "" "NA" ""
"0000971927" "0" "90" "2" "99012796" "99012796" "subst" "0" "00006" "CNGA3_000193" "g.99012796G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396333G>T" "" "NA" ""
"0000971928" "0" "90" "2" "99012823" "99012823" "subst" "0" "00006" "CNGA3_000169" "g.99012823G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396360G>T" "" "NA" ""
"0000971929" "0" "90" "2" "99012834" "99012834" "subst" "4.0797E-6" "00006" "CNGA3_000098" "g.99012834T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396371T>C" "" "NA" ""
"0000971930" "0" "90" "2" "99012876" "99012876" "subst" "0" "00006" "CNGA3_000111" "g.99012876G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396413G>C" "" "NA" ""
"0000971931" "0" "90" "2" "99012887" "99012887" "subst" "0" "00006" "CNGA3_000323" "g.99012887T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.52±0.02, normalized peak latency 1.87±0.06" "In vitro (cloned)" "" "" "0" "" "" "g.98396424T>G" "" "NA" ""
"0000971932" "0" "90" "2" "99012888" "99012888" "subst" "0" "00006" "CNGA3_000180" "g.99012888T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.32±0.02, normalized peak latency 0.40±0.03" "In vitro (cloned)" "" "" "0" "" "" "g.98396425T>C" "" "NA" ""
"0000971933" "0" "90" "2" "99012889" "99012889" "subst" "0" "00006" "CNGA3_000163" "g.99012889C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.17±0.02, normalized peak latency 1.75±0.14" "In vitro (cloned)" "" "" "0" "" "" "g.98396426C>T" "" "NA" ""
"0000971934" "0" "90" "2" "99012901" "99012901" "subst" "0" "00006" "CNGA3_000283" "g.99012901A>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396438A>C" "" "NA" ""
"0000971935" "0" "90" "2" "99012904" "99012904" "subst" "0" "00006" "CNGA3_000324" "g.99012904T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396441T>C" "" "NA" ""
"0000971936" "0" "90" "2" "99012913" "99012913" "subst" "4.0779E-6" "00006" "CNGA3_000325" "g.99012913G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.15±0.05, normalized peak latency 3.59±0.44" "In vitro (cloned)" "" "" "0" "" "" "g.98396450G>T" "" "NA" ""
"0000971937" "0" "90" "2" "99012919" "99012919" "subst" "0" "00006" "CNGA3_000243" "g.99012919T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396456T>C" "" "NA" ""
"0000971938" "0" "90" "2" "99012927" "99012927" "subst" "0" "00006" "CNGA3_000196" "g.99012927G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396464G>T" "" "NA" ""
"0000971939" "0" "10" "2" "99012940" "99012940" "subst" "4.48058E-5" "00006" "CNGA3_000132" "g.99012940G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.76±0.13, normalized peak latency 0.96±0.04" "In vitro (cloned)" "" "" "0" "" "" "g.98396477G>A" "" "NA" ""
"0000971940" "0" "90" "2" "99012952" "99012952" "subst" "4.0704E-6" "00006" "CNGA3_000181" "g.99012952G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01, normalized peak latency 1.38±0.12" "In vitro (cloned)" "" "" "0" "" "" "g.98396489G>C" "" "NA" ""
"0000971941" "0" "90" "2" "99012976" "99012976" "subst" "0.000199268" "00006" "CNGA3_000285" "g.99012976A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.93±0.11, normalized peak latency 1.15±0.03" "In vitro (cloned)" "" "" "0" "" "" "g.98396513A>G" "" "NA" ""
"0000971942" "0" "90" "2" "99013024" "99013024" "subst" "0" "00006" "CNGA3_000149" "g.99013024T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396561T>G" "" "NA" ""
"0000971943" "0" "90" "2" "99013045" "99013045" "subst" "1.22285E-5" "00006" "CNGA3_000220" "g.99013045A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.72±0.01, normalized peak latency 0.69±0.05" "In vitro (cloned)" "" "" "0" "" "" "g.98396582A>G" "" "NA" ""
"0000971944" "0" "90" "2" "99013068" "99013069" "delins" "0" "00006" "CNGA3_000326" "g.99013068_99013069delinsGT" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396605_98396606delinsGT" "" "NA" ""
"0000971945" "0" "90" "2" "99013090" "99013090" "subst" "0" "00006" "CNGA3_000170" "g.99013090G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396627G>A" "" "NA" ""
"0000971946" "0" "90" "2" "99013099" "99013099" "subst" "0" "00006" "CNGA3_000289" "g.99013099G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.01±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396636G>T" "" "NA" ""
"0000971947" "0" "90" "2" "99013146" "99013146" "subst" "0" "00006" "CNGA3_000134" "g.99013146C>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.01±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396683C>G" "" "NA" ""
"0000971948" "0" "90" "2" "99013153" "99013153" "subst" "1.62784E-5" "00006" "CNGA3_000042" "g.99013153A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.01±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396690A>G" "" "NA" ""
"0000971949" "0" "90" "2" "99013168" "99013168" "subst" "0" "00006" "CNGA3_000113" "g.99013168A>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.16±0.02, normalized peak latency 2.88±0.25" "In vitro (cloned)" "" "" "0" "" "" "g.98396705A>T" "" "NA" ""
"0000971950" "0" "90" "2" "99013170" "99013170" "subst" "4.07196E-6" "00006" "CNGA3_000247" "g.99013170G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396707G>A" "" "NA" ""
"0000971951" "0" "90" "2" "99013173" "99013173" "subst" "0" "00006" "CNGA3_000327" "g.99013173G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.11±0.03, normalized peak latency 0.96±0.10" "In vitro (cloned)" "" "" "0" "" "" "g.98396710G>A" "" "NA" ""
"0000971952" "0" "90" "2" "99013174" "99013174" "subst" "0" "00006" "CNGA3_000224" "g.99013174A>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396711A>T" "" "NA" ""
"0000971953" "0" "90" "2" "99013189" "99013189" "subst" "0" "00006" "CNGA3_000136" "g.99013189T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396726T>C" "" "NA" ""
"0000971954" "0" "90" "2" "99013190" "99013190" "subst" "4.88404E-5" "00006" "CNGA3_000071" "g.99013190G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396727G>A" "" "NA" ""
"0000971955" "0" "90" "2" "99013206" "99013206" "subst" "0" "00006" "CNGA3_000142" "g.99013206G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396743G>A" "" "NA" ""
"0000971956" "0" "90" "2" "99013212" "99013212" "subst" "0" "00006" "CNGA3_000002" "g.99013212C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.04±0.01, normalized peak latency 1.31±0.08" "In vitro (cloned)" "" "" "0" "" "" "g.98396749C>A" "" "NA" ""
"0000971957" "0" "90" "2" "99013213" "99013213" "subst" "8.13504E-6" "00006" "CNGA3_000227" "g.99013213T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396750T>G" "" "NA" ""
"0000971958" "0" "90" "2" "99013230" "99013230" "subst" "8.13028E-6" "00006" "CNGA3_000137" "g.99013230G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396767G>C" "" "NA" ""
"0000971959" "0" "10" "2" "99013248" "99013248" "subst" "1.62591E-5" "00006" "CNGA3_000291" "g.99013248G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.81±0.03, normalized peak latency 1.08±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98396785G>A" "" "NA" ""
"0000971960" "0" "10" "2" "99013251" "99013251" "subst" "0.00139811" "00006" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.74±0.05, normalized peak latency 0.96±0.03" "In vitro (cloned)" "" "" "0" "" "" "g.98396788G>A" "" "NA" ""
"0000971961" "0" "90" "2" "99013254" "99013254" "subst" "0" "00006" "CNGA3_000150" "g.99013254C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396791C>T" "" "NA" ""
"0000971962" "0" "90" "2" "99013273" "99013273" "subst" "0" "00006" "CNGA3_000054" "g.99013273T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396810T>G" "" "NA" ""
"0000971963" "0" "90" "2" "99013275" "99013275" "subst" "2.43845E-5" "00006" "CNGA3_000055" "g.99013275G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396812G>A" "" "NA" ""
"0000971964" "0" "90" "2" "99013291" "99013291" "subst" "4.06349E-6" "00006" "CNGA3_000293" "g.99013291T>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396828T>A" "" "NA" ""
"0000971965" "0" "90" "2" "99013312" "99013312" "subst" "2.84474E-5" "00006" "CNGA3_000328" "g.99013312C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.71±0.09, normalized peak latency 2.01±0.11" "In vitro (cloned)" "" "" "0" "" "" "g.98396849C>T" "" "NA" ""
"0000971966" "0" "90" "2" "99013315" "99013315" "subst" "0" "00006" "CNGA3_000182" "g.99013315G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.04±0.01, normalized peak latency 3.89±0.16" "In vitro (cloned)" "" "" "0" "" "" "g.98396852G>A" "" "NA" ""
"0000971967" "0" "90" "2" "99013319" "99013319" "subst" "0" "00006" "CNGA3_000329" "g.99013319C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.14±0.02, normalized peak latency 1.03±0.06" "In vitro (cloned)" "" "" "0" "" "" "g.98396856C>A" "" "NA" ""
"0000971968" "0" "90" "2" "99013338" "99013338" "subst" "8.12671E-6" "00006" "CNGA3_000073" "g.99013338C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.29±0.05, normalized peak latency 1.85±0.04" "In vitro (cloned)" "" "" "0" "" "" "g.98396875C>T" "" "NA" ""
"0000971969" "0" "90" "2" "99013341" "99013341" "subst" "0" "00006" "CNGA3_000295" "g.99013341A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396878A>G" "" "NA" ""
"0000971970" "0" "90" "2" "99013342" "99013342" "subst" "0" "00006" "CNGA3_000139" "g.99013342G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396879G>A" "" "NA" ""
"0000971971" "0" "90" "2" "99013342" "99013342" "subst" "0" "00006" "CNGA3_000229" "g.99013342G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98396879G>T" "" "NA" ""
"0000971972" "0" "90" "2" "99013345" "99013345" "subst" "8.12592E-6" "00006" "CNGA3_000330" "g.99013345T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396882T>C" "" "NA" ""
"0000971973" "0" "90" "2" "99013350" "99013350" "subst" "0" "00006" "CNGA3_000296" "g.99013350T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396887T>C" "" "NA" ""
"0000971974" "0" "90" "2" "99013369" "99013369" "subst" "0" "00006" "CNGA3_000297" "g.99013369T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396906T>G" "" "NA" ""
"0000971975" "0" "90" "2" "99013404" "99013404" "subst" "0" "00006" "CNGA3_000298" "g.99013404T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.21±0.03, normalized peak latency 0.94±0.06" "In vitro (cloned)" "" "" "0" "" "" "g.98396941T>C" "" "NA" ""
"0000971976" "0" "90" "2" "99013408" "99013408" "subst" "4.06435E-6" "00006" "CNGA3_000299" "g.99013408C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.02±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396945C>T" "" "NA" ""
"0000971977" "0" "10" "2" "99013417" "99013417" "subst" "0" "00006" "CNGA3_000331" "g.99013417A>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.90±0.07, normalized peak latency 0.75±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98396954A>G" "" "NA" ""
"0000971978" "0" "90" "2" "99013426" "99013426" "subst" "0" "00006" "CNGA3_000201" "g.99013426T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396963T>G" "" "NA" ""
"0000971979" "0" "90" "2" "99013438" "99013438" "subst" "0" "00006" "CNGA3_000244" "g.99013438G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.03±0.00" "In vitro (cloned)" "" "" "0" "" "" "g.98396975G>A" "" "NA" ""
"0000971980" "0" "10" "2" "99013478" "99013478" "subst" "0" "00006" "CNGA3_000332" "g.99013478G>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.78±0.03, normalized peak latency 1.01±0.05" "In vitro (cloned)" "" "" "0" "" "" "g.98397015G>T" "" "NA" ""
"0000971981" "0" "10" "2" "99013489" "99013489" "subst" "1.63504E-5" "00006" "CNGA3_000154" "g.99013489C>T" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.77±0.04, normalized peak latency 0.96±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98397026C>T" "" "NA" ""
"0000971982" "0" "90" "2" "99013495" "99013495" "subst" "1.22405E-5" "00006" "CNGA3_000333" "g.99013495C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.78±0.03, normalized peak latency 0.74±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98397032C>A" "" "NA" ""
"0000971983" "0" "90" "2" "99013510" "99013510" "subst" "0" "00006" "CNGA3_000140" "g.99013510T>G" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.83±0.10, normalized peak latency 0.55±0.03" "In vitro (cloned)" "" "" "0" "" "" "g.98397047T>G" "" "NA" ""
"0000971984" "0" "90" "2" "99013522" "99013522" "subst" "0" "00006" "CNGA3_000300" "g.99013522T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.84±0.09, normalized peak latency 0.56±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98397059T>C" "" "NA" ""
"0000971985" "0" "90" "2" "99013564" "99013564" "subst" "0" "00006" "CNGA3_000115" "g.99013564T>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.65±0.12, normalized peak latency 0.64±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98397101T>C" "" "NA" ""
"0000971986" "0" "10" "2" "99013570" "99013570" "subst" "2.44109E-5" "00006" "CNGA3_000334" "g.99013570G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.80±0.18, normalized peak latency 0.77±0.03" "In vitro (cloned)" "" "" "0" "" "" "g.98397107G>A" "" "NA" ""
"0000971987" "0" "90" "2" "99013582" "99013582" "subst" "0.000195279" "00006" "CNGA3_000026" "g.99013582A>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.58±0.04, normalized peak latency 1.04±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98397119A>C" "" "NA" ""
"0000971988" "0" "10" "2" "99013601" "99013601" "subst" "0.000272712" "00006" "CNGA3_000335" "g.99013601G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.76±0.02, normalized peak latency 1.02±0.01" "In vitro (cloned)" "" "" "0" "" "" "g.98397138G>A" "" "NA" ""
"0000971989" "0" "90" "2" "99013614" "99013614" "subst" "0.0003421" "00006" "CNGA3_000173" "g.99013614C>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.79±0.08, normalized peak latency 0.53±0.03" "In vitro (cloned)" "" "" "0" "" "" "g.98397151C>A" "" "NA" ""
"0000971990" "0" "90" "2" "99013615" "99013615" "subst" "2.03613E-5" "00006" "CNGA3_000203" "g.99013615G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.69±0.11, normalized peak latency 0.54±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98397152G>A" "" "NA" ""
"0000971991" "0" "10" "2" "99013638" "99013638" "subst" "7.33753E-5" "00006" "CNGA3_000336" "g.99013638G>C" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.92±0.08, normalized peak latency 0.93±0.02" "In vitro (cloned)" "" "" "0" "" "" "g.98397175G>C" "" "NA" ""
"0000971992" "0" "10" "2" "99013683" "99013683" "subst" "8.20648E-6" "00006" "CNGA3_000143" "g.99013683G>A" "" "{PMID:Solaki 2023:37689994}" "" "" "in vitro functional analysis normalized overall luminescence signal (AUC) 0.73±0.03, normalized peak latency 1.00±0.03" "In vitro (cloned)" "" "" "0" "" "" "g.98397220G>A" "" "NA" ""
"0000975474" "0" "50" "2" "99013321" "99013321" "subst" "7.72295E-5" "01804" "CNGA3_000022" "g.99013321G>A" "" "" "" "CNGA3(NM_001298.3):c.1688G>A (p.R563H, p.(Arg563His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000986364" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "04405" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000986365" "1" "50" "2" "98999895" "98999895" "subst" "0.000296524" "04405" "CNGA3_000010" "g.98999895C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98383432C>G" "" "VUS" "ACMG"
"0000986366" "3" "90" "2" "99012912" "99012912" "subst" "0.000399605" "04405" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000986367" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "04405" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000986368" "1" "70" "2" "99012315" "99012315" "subst" "0.00138165" "04405" "CNGA3_000016" "g.99012315G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98395852G>A" "" "likely pathogenic" "ACMG"
"0000986369" "1" "90" "2" "98986540" "98986540" "subst" "0.000266114" "04405" "CNGA3_000080" "g.98986540G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98370077G>A" "" "pathogenic" "ACMG"
"0000986370" "1" "90" "2" "99013274" "99013274" "subst" "0.000150361" "04405" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000986371" "1" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "04405" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000986372" "3" "90" "2" "99012481" "99012481" "subst" "6.0936E-5" "04405" "CNGA3_000035" "g.99012481G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98396018G>A" "" "pathogenic" "ACMG"
"0000986898" "2" "90" "2" "99013327" "99013327" "subst" "0.000154434" "04405" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98396864C>T" "" "pathogenic" "ACMG"
"0000986899" "2" "70" "2" "99013251" "99013251" "subst" "0.00139811" "04405" "CNGA3_000021" "g.99013251G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98396788G>A" "" "likely pathogenic" "ACMG"
"0000986900" "2" "90" "2" "99012573" "99012575" "del" "0" "04405" "CNGA3_000050" "g.99012573_99012575del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98396110_98396112del" "" "pathogenic" "ACMG"
"0000986901" "2" "70" "2" "99012411" "99012411" "subst" "2.43657E-5" "04405" "CNGA3_000122" "g.99012411G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98395948G>A" "" "likely pathogenic" "ACMG"
"0000986902" "2" "90" "2" "99013327" "99013327" "subst" "0.000154434" "04405" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.98396864C>T" "" "pathogenic" "ACMG"
"0000986903" "2" "90" "2" "98962919" "99013718" "del" "0" "04405" "CNGA3_000337" "g.(?_98962919)_(99013718_?)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.(?_-116)_(2085_?)del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000987156" "0" "70" "2" "99013075" "99013075" "subst" "0.00033423" "00006" "CNGA3_000338" "g.99013075G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.98396612G>A" "" "likely pathogenic" "ACMG"
"0000987161" "0" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000987246" "0" "90" "2" "99012480" "99012480" "subst" "0.000105635" "00006" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic" "ACMG"
"0000987280" "0" "90" "2" "99013302" "99013302" "subst" "0.000154414" "00006" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.98396839G>A" "" "pathogenic" "ACMG"
"0000987282" "0" "90" "2" "99013274" "99013274" "subst" "0.000150361" "00006" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic" "ACMG"
"0000987309" "0" "90" "2" "99012912" "99012912" "subst" "0.000399605" "00006" "CNGA3_000038" "g.99012912C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.98396449C>T" "" "pathogenic" "ACMG"
"0000987315" "0" "90" "2" "99008427" "99008427" "subst" "8.1322E-5" "00006" "CNGA3_000031" "g.99008427C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.98391964C>T" "" "pathogenic" "ACMG"
"0000987688" "3" "90" "2" "99012948" "99012948" "subst" "2.03568E-5" "04543" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP2, PM2, PP3, PP5" "Germline" "yes" "" "0" "" "" "g.98396485C>T" "" "pathogenic (recessive)" "ACMG"
"0000987689" "3" "90" "2" "99012948" "99012948" "subst" "2.03568E-5" "04543" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP2, PM2, PP3, PP5" "Germline" "yes" "" "0" "" "" "g.98396485C>T" "" "pathogenic (recessive)" "ACMG"
"0000987690" "3" "90" "2" "99012948" "99012948" "subst" "2.03568E-5" "04543" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP2, PM2, PP3, PP5" "Germline" "yes" "" "0" "" "" "g.98396485C>T" "" "pathogenic (recessive)" "ACMG"
"0000987691" "3" "90" "2" "99012948" "99012948" "subst" "2.03568E-5" "04543" "CNGA3_000068" "g.99012948C>T" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP2, PM2, PP3, PP5" "Germline" "yes" "" "0" "" "" "g.98396485C>T" "" "pathogenic (recessive)" "ACMG"
"0000987692" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "04543" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP2, PM2, PP3, PP5" "Germline" "yes" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000987693" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "04543" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP2, PM2, PP3, PP5" "Germline" "yes" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000987694" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "04543" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP2, PM2, PP3, PP5" "Germline" "yes" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000987695" "1" "70" "2" "99012588" "99012588" "subst" "1.6243E-5" "04543" "CNGA3_000001" "g.99012588T>C" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP2, PM2, PP3, PP5" "Germline" "yes" "" "0" "" "" "g.98396125T>C" "" "likely pathogenic (recessive)" "ACMG"
"0001010045" "0" "90" "2" "99012315" "99012315" "subst" "0.00138165" "04752" "CNGA3_000016" "g.99012315G>A" "" "Rawnsley 2025, submitted" "" "" "possible digenic, triallelic inheritance" "Germline" "" "" "0" "" "" "g.98395852G>A" "" "pathogenic" "ACMG"
"0001010230" "1" "90" "2" "99012580" "99012580" "subst" "0" "04752" "CNGA3_000214" "g.99012580G>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1_strong, PM3_strong, PM2_sup, PS4_sup" "Germline" "" "" "0" "" "" "g.98396117G>A" "" "pathogenic (recessive)" "ACMG"
"0001010231" "1" "90" "2" "99012580" "99012580" "subst" "0" "04752" "CNGA3_000214" "g.99012580G>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1_strong, PM3_strong, PM2_sup, PS4_sup" "Germline" "" "" "0" "" "" "g.98396117G>A" "" "pathogenic (recessive)" "ACMG"
"0001010232" "1" "90" "2" "99012580" "99012580" "subst" "0" "04752" "CNGA3_000214" "g.99012580G>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1_strong, PM3_strong, PM2_sup, PS4_sup" "Germline" "" "" "0" "" "" "g.98396117G>A" "" "pathogenic (recessive)" "ACMG"
"0001010233" "3" "70" "2" "99012480" "99012480" "subst" "0.000105635" "04752" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PM2_sup, PM5, PS4, PM3" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "likely pathogenic (recessive)" "ACMG"
"0001010234" "1" "70" "2" "99013207" "99013207" "subst" "0" "04752" "CNGA3_000226" "g.99013207G>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PP3_strong, PS3_sup, PS4_sup, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.98396744G>A" "" "likely pathogenic (recessive)" "ACMG"
"0001010235" "1" "70" "2" "99013207" "99013207" "subst" "0" "04752" "CNGA3_000226" "g.99013207G>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PP3_strong, PS3_sup, PS4_sup, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.98396744G>A" "" "likely pathogenic (recessive)" "ACMG"
"0001010236" "3" "90" "2" "98996809" "98996809" "del" "0" "04752" "CNGA3_000256" "g.98996809del" "" "{PMID:Andersen 2023:36980963}" "" "387delA" "ACMG PVS1, PM3, PM2_sup, PS4_sup" "Germline" "" "" "0" "" "" "g.98380346del" "" "pathogenic (recessive)" "ACMG"
"0001010237" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "04752" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4, PM3_strong, PM2_sup, PS3_mod, PP3_moderate" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" "ACMG"
"0001010238" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "04752" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4_strong, PM3_strong, PM2_sup, PP3_moderate" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" "ACMG"
"0001010239" "1" "90" "2" "99012480" "99012480" "subst" "0.000105635" "04752" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4_strong, PM3_very strong, PM2_sup, PP3_moderate" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" "ACMG"
"0001010240" "1" "90" "2" "98986505" "98986505" "subst" "3.25346E-5" "04752" "CNGA3_000028" "g.98986505C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1, PS4_moderate, PM2_sup" "Germline" "" "" "0" "" "" "g.98370042C>T" "" "pathogenic (recessive)" "ACMG"
"0001010241" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "04752" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4, PM3_strong, PP3_strong, PS3_moderate, PM1, PM5, PM2_sup" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic (recessive)" "ACMG"
"0001010242" "1" "90" "2" "99012462" "99012462" "subst" "0.000105615" "04752" "CNGA3_000033" "g.99012462C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4, PM3_strong, PP3_strong, PS3_moderate, PM1, PM5, PM2_sup" "Germline" "" "" "0" "" "" "g.98395999C>T" "" "pathogenic (recessive)" "ACMG"
"0001010243" "3" "90" "2" "99013274" "99013274" "subst" "0.000150361" "04752" "CNGA3_000044" "g.99013274C>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4, PM3_strong, PM2_sup, PS3_mod, PP3_moderate" "Germline" "" "" "0" "" "" "g.98396811C>A" "" "pathogenic (recessive)" "ACMG"
"0001010311" "2" "90" "2" "99013128" "99013128" "subst" "8.13941E-6" "04752" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1_strong, PM3_strong, PM2_sup, PS4_moderate" "Germline" "" "" "0" "" "" "g.98396665C>T" "" "pathogenic (recessive)" "ACMG"
"0001010312" "2" "90" "2" "99013128" "99013128" "subst" "8.13941E-6" "04752" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1_strong, PM3_strong, PM2_sup, PS4_moderate" "Germline" "" "" "0" "" "" "g.98396665C>T" "" "pathogenic (recessive)" "ACMG"
"0001010313" "2" "90" "2" "99013128" "99013128" "subst" "8.13941E-6" "04752" "CNGA3_000041" "g.99013128C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1_strong, PM3_strong, PM2_sup, PS4_moderate" "Germline" "" "" "0" "" "" "g.98396665C>T" "" "pathogenic (recessive)" "ACMG"
"0001010314" "2" "70" "2" "99013327" "99013327" "subst" "0.000154434" "04752" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PM2, PS4, PM3, PS3_MOD" "Germline" "" "" "0" "" "" "g.98396864C>T" "" "likely pathogenic (recessive)" "ACMG"
"0001010315" "2" "70" "2" "99013327" "99013327" "subst" "0.000154434" "04752" "CNGA3_000072" "g.99013327C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PM2, PS4, PM3, PS3_MOD" "Germline" "" "" "0" "" "" "g.98396864C>T" "" "likely pathogenic (recessive)" "ACMG"
"0001010316" "2" "90" "2" "99013321" "99013321" "subst" "7.72295E-5" "04752" "CNGA3_000022" "g.99013321G>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4, PM3_very strong, PP3_strong, PM2_sup" "Germline" "" "" "0" "" "" "g.98396858G>A" "" "pathogenic (recessive)" "ACMG"
"0001010317" "2" "70" "2" "99013207" "99013207" "subst" "0" "04752" "CNGA3_000226" "g.99013207G>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PP3_strong, PS3_sup, PS4_sup, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.98396744G>A" "" "likely pathogenic (recessive)" "ACMG"
"0001010318" "2" "90" "2" "98994178" "98994199" "dup" "0" "04752" "CNGA3_000045" "g.98994178_98994199dup" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1, PM2_sup, PS4_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.98377715_98377736dup" "" "pathogenic (recessive)" "ACMG"
"0001010319" "2" "90" "2" "99012480" "99012480" "subst" "0.000105635" "04752" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4_strong, PM3_very strong, PM2_sup, PP3_moderate" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" "ACMG"
"0001010320" "2" "90" "2" "99012480" "99012480" "subst" "0.000105635" "04752" "CNGA3_000034" "g.99012480C>T" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4_strong, PM3_very strong, PM2_sup, PP3_moderate" "Germline" "" "" "0" "" "" "g.98396017C>T" "" "pathogenic (recessive)" "ACMG"
"0001010322" "0" "90" "2" "99013302" "99013302" "subst" "0.000154414" "04752" "CNGA3_000056" "g.99013302G>A" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PS4, PP3_strong, PM2_sup, PS3_sup" "Germline" "" "" "0" "" "" "g.98396839G>A" "" "pathogenic (recessive)" "ACMG"
"0001022314" "1" "90" "2" "99012463" "99012463" "subst" "2.84368E-5" "00006" "CNGA3_000048" "g.99012463G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs778114016" "0" "" "" "g.98396000G>A" "" "pathogenic" ""
"0001022355" "2" "70" "2" "99013338" "99013338" "subst" "8.12671E-6" "00006" "CNGA3_000073" "g.99013338C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs757167624" "0" "" "" "g.98396875C>T" "" "likely pathogenic" ""
## 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 CNGA3
## Count = 1972
"{{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}}" "{{VariantOnTranscript/Protein/Domain}}"
"0000040275" "00005380" "70" "1005" "0" "1005" "0" "c.1005G>T" "r.(?)" "p.(Trp335Cys)" "8" ""
"0000061692" "00005380" "90" "1579" "0" "1579" "0" "c.1579C>A" "r.(?)" "p.(Leu527Met)" "8" ""
"0000061695" "00005380" "90" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "8" ""
"0000162774" "00005380" "90" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Ala318Thr)" "8" ""
"0000170890" "00005380" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "8" ""
"0000245711" "00005380" "70" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "" ""
"0000245952" "00005380" "10" "215" "11" "215" "11" "c.215+11A>G" "r.(=)" "p.(=)" "" ""
"0000246016" "00005380" "50" "1949" "0" "1949" "0" "c.1949A>C" "r.(?)" "p.(Glu650Ala)" "" ""
"0000249012" "00005380" "10" "102" "-16" "102" "-16" "c.102-16A>G" "r.(=)" "p.(=)" "" ""
"0000255350" "00005380" "70" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "" ""
"0000264677" "00005380" "90" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358Ter)" "" ""
"0000264678" "00005380" "10" "1101" "0" "1101" "0" "c.1101T>C" "r.(?)" "p.(Gly367=)" "" ""
"0000264679" "00005380" "50" "1492" "0" "1492" "0" "c.1492C>G" "r.(?)" "p.(Leu498Val)" "" ""
"0000264680" "00005380" "30" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Ala51Thr)" "" ""
"0000264681" "00005380" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000264682" "00005380" "10" "1863" "0" "1863" "0" "c.1863G>A" "r.(?)" "p.(Ala621=)" "" ""
"0000264683" "00005380" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Thr247Met)" "" ""
"0000273650" "00005380" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000273651" "00005380" "30" "1746" "0" "1746" "0" "c.1746C>T" "r.(?)" "p.(Asp582=)" "" ""
"0000273652" "00005380" "30" "1776" "0" "1776" "0" "c.1776C>T" "r.(?)" "p.(Pro592=)" "" ""
"0000273653" "00005380" "30" "440" "0" "440" "0" "c.440C>G" "r.(?)" "p.(Thr147Arg)" "" ""
"0000273654" "00005380" "50" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ala158Val)" "" ""
"0000273655" "00005380" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Tyr199=)" "" ""
"0000273656" "00005380" "50" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221Gln)" "" ""
"0000273657" "00005380" "30" "674" "-7" "674" "-7" "c.674-7T>G" "r.(=)" "p.(=)" "" ""
"0000327182" "00005380" "50" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000338956" "00005380" "10" "-286" "0" "-286" "0" "c.-286C>T" "r.(?)" "p.(=)" "" ""
"0000338957" "00005380" "10" "102" "-16" "102" "-16" "c.102-16A>G" "r.(=)" "p.(=)" "" ""
"0000340597" "00005380" "10" "72" "0" "72" "0" "c.72T>C" "r.(?)" "p.(Asp24=)" "" ""
"0000342303" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000342325" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "" ""
"0000342504" "00005380" "90" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "" ""
"0000342515" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000342529" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000342530" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000342881" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000342895" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000343017" "00005380" "90" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Ter)" "" ""
"0000343111" "00005380" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000344124" "00005380" "50" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Asp507Gly)" "" ""
"0000346758" "00005380" "90" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Ile522Thr)" "" ""
"0000348069" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000348228" "00005380" "70" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000348412" "00005380" "90" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Pro372Leu)" "" ""
"0000348413" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000350585" "00005380" "30" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000358207" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "1" ""
"0000358208" "00005380" "90" "130" "0" "151" "0" "c.130_151dup" "r.(?)" "p.(Ala51fs*15)" "2" ""
"0000358209" "00005380" "70" "667" "0" "667" "0" "c.667C>G" "r.(?)" "p.(p.Arg223Gly)" "6" ""
"0000358210" "00005380" "70" "667" "0" "667" "0" "c.667C>G" "r.(?)" "p.(p.Arg223Gly)" "6" ""
"0000358211" "00005380" "70" "811" "0" "811" "0" "c.811C>G" "r.(?)" "p.(Pro271Ala)" "7" ""
"0000358212" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000358213" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000358214" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "7" ""
"0000358215" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "7" ""
"0000358216" "00005380" "70" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Arg302Gly)" "7" ""
"0000358217" "00005380" "90" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "7" ""
"0000358218" "00005380" "90" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "7" ""
"0000358219" "00005380" "90" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "7" ""
"0000358220" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "7" ""
"0000358221" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "7" ""
"0000358222" "00005380" "90" "1294" "0" "1294" "0" "c.1294del" "r.(?)" "p.(Asp432fs*32)" "7" ""
"0000358223" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "7" ""
"0000358224" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "7" ""
"0000358225" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "7" ""
"0000358420" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "7" ""
"0000358421" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "7" ""
"0000358422" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "7" ""
"0000358423" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "7" ""
"0000358424" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "7" ""
"0000358425" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000358426" "00005380" "70" "1640" "0" "1640" "0" "c.1640T>G" "r.(?)" "p.(Phe547Cys)" "7" ""
"0000358427" "00005380" "70" "1640" "0" "1640" "0" "c.1640T>G" "r.(?)" "p.(Phe547Cys)" "7" ""
"0000358428" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "7" ""
"0000358429" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "7" ""
"0000358430" "00005380" "90" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "7" ""
"0000478751" "00005380" "90" "-8388608" "0" "-8388608" "0" "c.-69668611T>A" "r.(=)" "p.(=)" "" ""
"0000478752" "00005380" "90" "-8388608" "0" "-8388608" "0" "c.-69666684_-69666683del" "r.(=)" "p.(=)" "" ""
"0000517235" "00005380" "50" "30" "0" "30" "0" "c.30C>A" "r.(?)" "p.(His10Gln)" "" ""
"0000517236" "00005380" "90" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21Ter)" "" ""
"0000517237" "00005380" "30" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Pro48=)" "" ""
"0000517238" "00005380" "30" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Gln118Arg)" "" ""
"0000517239" "00005380" "30" "370" "0" "370" "0" "c.370C>G" "r.(?)" "p.(Gln124Glu)" "" ""
"0000517240" "00005380" "50" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Trp171Cys)" "" ""
"0000517241" "00005380" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" ""
"0000517242" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Ter)" "" ""
"0000517243" "00005380" "50" "670" "0" "670" "0" "c.670A>G" "r.(?)" "p.(Thr224Ala)" "" ""
"0000517244" "00005380" "30" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Thr247Met)" "" ""
"0000517245" "00005380" "10" "790" "0" "790" "0" "c.790T>A" "r.(?)" "p.(Leu264Ile)" "" ""
"0000517246" "00005380" "90" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "" ""
"0000517247" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000517248" "00005380" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290His)" "" ""
"0000517249" "00005380" "50" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Glu368Gly)" "" ""
"0000517250" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000517251" "00005380" "50" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000517252" "00005380" "30" "1356" "0" "1356" "0" "c.1356T>C" "r.(?)" "p.(Asp452=)" "" ""
"0000517253" "00005380" "50" "1520" "0" "1520" "0" "c.1520A>T" "r.(?)" "p.(Asp507Val)" "" ""
"0000517254" "00005380" "70" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" ""
"0000517255" "00005380" "70" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" ""
"0000517256" "00005380" "50" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000517257" "00005380" "50" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569Cys)" "" ""
"0000517258" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000517259" "00005380" "30" "1767" "0" "1767" "0" "c.1767C>T" "r.(?)" "p.(Thr589=)" "" ""
"0000592005" "00005380" "90" "778" "0" "778" "0" "c.778dup" "r.(?)" "p.(Asp260Glyfs*27)" "" ""
"0000592006" "00005380" "90" "489" "0" "492" "0" "c.489_492del" "r.(?)" "p.(Ser164Alafs*8)" "" ""
"0000608171" "00005380" "90" "-37" "-1" "-37" "-1" "c.-37-1G>C" "r.spl?" "p.?" "" ""
"0000608172" "00005380" "50" "66" "0" "66" "0" "c.66C>G" "r.(?)" "p.(Asp22Glu)" "" ""
"0000608173" "00005380" "90" "101" "1" "101" "1" "c.101+1G>A" "r.spl?" "p.?" "" ""
"0000608174" "00005380" "90" "1231" "0" "1231" "0" "c.1231del" "r.(?)" "p.(Ala411GlnfsTer54)" "" ""
"0000621139" "00005380" "10" "102" "-20" "102" "-20" "c.102-20C>T" "r.(=)" "p.(=)" "" ""
"0000621140" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000650713" "00005380" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000650714" "00005380" "50" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000650715" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000650716" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000650717" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000650718" "00005380" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000653255" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000669657" "00005380" "50" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000674726" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000676753" "00005380" "30" "1863" "0" "1863" "0" "c.1863G>A" "r.(?)" "p.(Ala621=)" "" ""
"0000676754" "00005380" "30" "1902" "0" "1902" "0" "c.1902G>T" "r.(?)" "p.(Gly634=)" "" ""
"0000684513" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000684514" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000684515" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000684516" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000684625" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000684626" "00005380" "70" "1719" "0" "1719" "0" "c.1719C>G" "r.(?)" "p.(Tyr573*)" "" ""
"0000684682" "00005380" "50" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Leu185Val)" "" ""
"0000684712" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000685120" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" ""
"0000685121" "00005380" "90" "101" "1" "101" "1" "c.101+1G>A" "r.spl" "p.?" "" ""
"0000685122" "00005380" "90" "130" "0" "151" "0" "c.130_151dup" "r.(?)" "p.(Ala51Valfs*16)" "" ""
"0000685123" "00005380" "70" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Glu106Lys)" "" ""
"0000685124" "00005380" "90" "667" "0" "667" "0" "c.667C>G" "r.(?)" "p.(Arg223Gly)" "" ""
"0000685125" "00005380" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000685126" "00005380" "70" "811" "0" "811" "0" "c.811C>G" "r.(?)" "p.(?)" "" ""
"0000685127" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000685128" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000685129" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000685130" "00005380" "70" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Arg302Gly)" "" ""
"0000685131" "00005380" "90" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000685132" "00005380" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000685133" "00005380" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000685134" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>G" "r.(?)" "p.(Pro372Ala)" "" ""
"0000685135" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000685136" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000685137" "00005380" "90" "1294" "0" "1294" "0" "c.1294del" "r.(?)" "p.(Asp432Thrfs*33)" "" ""
"0000685138" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000685139" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000685140" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000685141" "00005380" "70" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000685142" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000685143" "00005380" "70" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" ""
"0000685144" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000703775" "00005380" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "8" ""
"0000703776" "00005380" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "8" ""
"0000703777" "00005380" "50" "1139" "0" "1139" "0" "c.1139T>C" "r.(?)" "p.(Phe380Ser)" "8" ""
"0000703778" "00005380" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Leu186Phe)" "6" ""
"0000703779" "00005380" "50" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "8" ""
"0000703780" "00005380" "50" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Trp487*)" "12" ""
"0000704037" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000704038" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000704039" "00005380" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "8" ""
"0000704041" "00005380" "90" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "8" ""
"0000704042" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" ""
"0000704043" "00005380" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Gln196*)" "7" ""
"0000704044" "00005380" "90" "1443" "0" "1443" "0" "c.1443dup" "r.(?)" "p.(Ile482Hisfs*6)" "8" ""
"0000704045" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "8" ""
"0000704046" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "7" ""
"0000704049" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "8" ""
"0000704053" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000704056" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000708433" "00005380" "70" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "8" ""
"0000708435" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "8" ""
"0000708436" "00005380" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "8" ""
"0000708437" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "8" ""
"0000708438" "00005380" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "8" ""
"0000708440" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "8" ""
"0000708441" "00005380" "30" "1695" "0" "1695" "0" "c.1695G>A" "r.(=)" "p.(=)" "8" ""
"0000708443" "00005380" "70" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Glu344*)" "8" ""
"0000708446" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "8" ""
"0000708447" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000708449" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000708450" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000708451" "00005380" "70" "1201" "0" "1201" "0" "c.1201T>C" "r.(?)" "p.(Ser401Pro)" "8" ""
"0000708454" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "8" ""
"0000708457" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "8" ""
"0000708458" "00005380" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "8" ""
"0000708462" "00005380" "70" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Glu344*)" "8" ""
"0000708464" "00005380" "70" "787" "0" "787" "0" "c.787T>G" "r.(?)" "p.(Tyr263Asp)" "8" ""
"0000708467" "00005380" "70" "1201" "0" "1201" "0" "c.1201T>C" "r.(?)" "p.(Ser401Pro)" "8" ""
"0000708473" "00005380" "70" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Phe249Ser)" "8" ""
"0000713322" "00005380" "90" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000713501" "00005380" "90" "106" "0" "109" "0" "c.106_109del" "r.(?)" "p.(His36Argfs*136)" "" ""
"0000713713" "00005380" "90" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" ""
"0000713811" "00005380" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000714021" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000714022" "00005380" "70" "485" "0" "485" "0" "c.485A>T" "r.(?)" "p.(Asp162Val)" "" ""
"0000714060" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000714073" "00005380" "70" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Ile187Thr)" "" ""
"0000714090" "00005380" "70" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Gln604*)" "" ""
"0000714100" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000719099" "00005380" "70" "-37" "-1" "-37" "-1" "c.-37-1G>C" "r.spl?" "p.?" "" ""
"0000719100" "00005380" "50" "1520" "0" "1520" "0" "c.1520A>T" "r.(?)" "p.(Asp507Val)" "" ""
"0000730311" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000730312" "00005380" "90" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Lys155Argfs*18)" "" ""
"0000730313" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000730314" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000730315" "00005380" "90" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "" ""
"0000730316" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000730317" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" ""
"0000730318" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000730327" "00005380" "90" "1320" "0" "1320" "0" "c.1320del" "r.(?)" "p.(Trp440Cysfs*25)" "" ""
"0000730328" "00005380" "90" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000730329" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000731329" "00005380" "70" "1262" "0" "1262" "0" "c.1262del" "r.(?)" "p.(Lys421Serfs*44)" "" ""
"0000731344" "00005380" "70" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" ""
"0000731434" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000731443" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000732443" "00005380" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" ""
"0000732463" "00005380" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" ""
"0000732611" "00005380" "90" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Gln604*)" "" ""
"0000733217" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000733218" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000733219" "00005380" "70" "101" "1" "101" "1" "c.101+1G>A" "r.spl" "p.?" "" ""
"0000733641" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "" ""
"0000733642" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000733643" "00005380" "70" "1243" "0" "1243" "0" "c.1243G>C" "r.(?)" "p.(Ala415Pro)" "" ""
"0000735606" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000735607" "00005380" "90" "1310" "0" "1312" "0" "c.1310_1312delinsAG" "r.(?)" "p.(Val437Glufs*28)" "" ""
"0000735608" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000735728" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000735729" "00005380" "90" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" ""
"0000735730" "00005380" "90" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" ""
"0000735828" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000759587" "00005380" "90" "1535" "0" "1535" "0" "c.1535A>T" "r.(?)" "p.(Lys512Met)" "" ""
"0000759588" "00005380" "90" "107" "0" "110" "0" "c.107_110del" "r.(?)" "p.(His36Argfs*136)" "" ""
"0000759614" "00005380" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" ""
"0000759615" "00005380" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" ""
"0000759984" "00005380" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000760025" "00005380" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000760137" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000760142" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000760143" "00005380" "50" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" ""
"0000760151" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000760171" "00005380" "70" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000760309" "00005380" "50" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Trp83*)" "" ""
"0000760419" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000760421" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000760431" "00005380" "70" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" ""
"0000760490" "00005380" "50" "1931" "0" "1931" "0" "c.1931T>C" "r.(?)" "p.(Phe644Ser)" "" ""
"0000763894" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000763895" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000763896" "00005380" "70" "872" "0" "873" "0" "c.872_873del" "r.(?)" "p.(Thr291ArgfsTer77)" "" ""
"0000763897" "00005380" "70" "833" "0" "833" "0" "c.833T>C" "r.(?)" "p.(Leu278Pro)" "" ""
"0000763898" "00005380" "70" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21Ter)" "" ""
"0000763899" "00005380" "70" "965" "0" "965" "0" "c.965T>C" "r.(?)" "p.(Phe322Ser)" "" ""
"0000763900" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000763901" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000763902" "00005380" "70" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Phe330Ser)" "" ""
"0000763903" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000763904" "00005380" "70" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Trp171Ter)" "" ""
"0000763905" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358Ter)" "" ""
"0000763906" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358Ter)" "" ""
"0000763907" "00005380" "70" "1010" "0" "1012" "0" "c.1010_1012delinsCAATCCCAGTG" "r.(?)" "p.(Tyr337SerfsTer28)" "" ""
"0000763908" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Ter)" "" ""
"0000763909" "00005380" "70" "396" "-11" "396" "-11" "c.396-11C>G" "r.spl" "p.?" "" ""
"0000763910" "00005380" "70" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21Ter)" "" ""
"0000763911" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358Ter)" "" ""
"0000763912" "00005380" "70" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" ""
"0000763913" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000763914" "00005380" "70" "773" "0" "773" "0" "c.773C>G" "r.(?)" "p.(Pro258Arg)" "" ""
"0000763915" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Ter)" "" ""
"0000763916" "00005380" "70" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "" ""
"0000763917" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000763918" "00005380" "70" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Lys)" "" ""
"0000763919" "00005380" "70" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Phe330Ser)" "" ""
"0000763920" "00005380" "70" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21Ter)" "" ""
"0000763921" "00005380" "70" "396" "-11" "396" "-11" "c.396-11C>G" "r.spl" "p.?" "" ""
"0000763922" "00005380" "70" "396" "-11" "396" "-11" "c.396-11C>G" "r.spl" "p.?" "" ""
"0000763923" "00005380" "70" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Ile)" "" ""
"0000763924" "00005380" "70" "1146" "0" "1146" "0" "c.1146dup" "r.(?)" "p.(Val383ArgfsTer36)" "" ""
"0000763925" "00005380" "70" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Ile)" "" ""
"0000763926" "00005380" "70" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Trp171Cys)" "" ""
"0000763927" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Ter)" "" ""
"0000763928" "00005380" "70" "1001" "0" "1001" "0" "c.1001C>T" "r.(?)" "p.(Ser334Phe)" "" ""
"0000763929" "00005380" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000763930" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000763931" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000763932" "00005380" "70" "1597" "0" "1597" "0" "c.1597G>C" "r.(?)" "p.(Asp533His)" "" ""
"0000763933" "00005380" "70" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21Ter)" "" ""
"0000763934" "00005380" "70" "872" "0" "873" "0" "c.872_873del" "r.(?)" "p.(Thr291ArgfsTer77)" "" ""
"0000763935" "00005380" "70" "396" "-11" "396" "-11" "c.396-11C>G" "r.spl" "p.?" "" ""
"0000763936" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000763937" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000763938" "00005380" "70" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Trp171Cys)" "" ""
"0000763939" "00005380" "70" "396" "-11" "396" "-11" "c.396-11C>G" "r.spl" "p.?" "" ""
"0000763940" "00005380" "70" "396" "-11" "396" "-11" "c.396-11C>G" "r.spl" "p.?" "" ""
"0000763941" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000763942" "00005380" "70" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Trp171Ter)" "" ""
"0000763943" "00005380" "70" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Pro505Ala)" "" ""
"0000763944" "00005380" "70" "396" "-11" "396" "-11" "c.396-11C>G" "r.(?)" "p.?" "" ""
"0000763945" "00005380" "70" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21Ter)" "" ""
"0000763946" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000763974" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358Ter)" "" ""
"0000763975" "00005380" "70" "1975" "0" "1975" "0" "c.1975A>T" "r.(?)" "p.(Lys659Ter)" "" ""
"0000763976" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000763977" "00005380" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "" ""
"0000763978" "00005380" "70" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Arg436Gln)" "" ""
"0000763979" "00005380" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000763980" "00005380" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000763981" "00005380" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "" ""
"0000763982" "00005380" "70" "1627" "0" "1635" "0" "c.1627_1635del" "r.(?)" "p.(Asp543_Ser545del)" "" ""
"0000763983" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000763984" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358Ter)" "" ""
"0000763985" "00005380" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "" ""
"0000763986" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000763987" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000763988" "00005380" "70" "1116" "0" "1116" "0" "c.1116dup" "r.(?)" "p.(Val373ArgfsTer4)" "" ""
"0000763989" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000763990" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000763991" "00005380" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000763992" "00005380" "70" "833" "0" "833" "0" "c.833T>C" "r.(?)" "p.(Leu278Pro)" "" ""
"0000763993" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000763994" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358Ter)" "" ""
"0000763995" "00005380" "70" "674" "-2" "674" "-2" "c.674-2A>C" "r.spl" "p.?" "" ""
"0000763996" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000763997" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000763998" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Ter)" "" ""
"0000763999" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000764000" "00005380" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000764001" "00005380" "70" "1627" "0" "1635" "0" "c.1627_1635del" "r.(?)" "p.(Asp543_Ser545del)" "" ""
"0000764002" "00005380" "70" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Ser570Asn)" "" ""
"0000764003" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Ter)" "" ""
"0000764004" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000764005" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000764006" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Ter)" "" ""
"0000764007" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000764008" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000764009" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358Ter)" "" ""
"0000764010" "00005380" "70" "1627" "0" "1635" "0" "c.1627_1635del" "r.(?)" "p.(Asp543_Ser545del)" "" ""
"0000764011" "00005380" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "" ""
"0000764012" "00005380" "70" "1537" "0" "1537" "0" "c.1537G>C" "r.(?)" "p.(Gly513Arg)" "" ""
"0000764013" "00005380" "70" "1556" "0" "1556" "0" "c.1556T>C" "r.(?)" "p.(Met519Thr)" "" ""
"0000764014" "00005380" "70" "1877" "0" "1877" "0" "c.1877T>G" "r.(?)" "p.(Leu626Arg)" "" ""
"0000764015" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000764023" "00005380" "70" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Trp440Ter)" "" ""
"0000764099" "00005380" "90" "130" "0" "151" "0" "c.130_151dup" "r.130_151dup" "p.(Ala51Valfs*16)" "3" ""
"0000765842" "00005380" "70" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000765858" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Ter)" "" ""
"0000765870" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000765893" "00005380" "70" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Gly684Arg)" "" ""
"0000765902" "00005380" "70" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Leu186Phe)" "" ""
"0000765928" "00005380" "70" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Gly525Ser)" "" ""
"0000785366" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000785367" "00005380" "90" "991" "0" "991" "0" "c.991G>C" "r.(?)" "p.(Gly331Arg)" "" ""
"0000787754" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000787755" "00005380" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" ""
"0000787762" "00005380" "90" "1351" "0" "1351" "0" "c.1351dup" "r.(?)" "p.(Val451GlyfsTer3)" "" ""
"0000787763" "00005380" "90" "1443" "0" "1443" "0" "c.1443dup" "r.(?)" "p.(Ile482HisfsTer6)" "" ""
"0000787764" "00005380" "90" "536" "0" "536" "0" "c.536T>A" "r.(?)" "p.(Val179Asp)" "" ""
"0000787765" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000787771" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000787772" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000787773" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000788181" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000788184" "00005380" "70" "1391" "0" "1391" "0" "c.1391T>G" "r.(?)" "p.(Leu464Arg)" "" ""
"0000788185" "00005380" "70" "1391" "0" "1391" "0" "c.1391T>G" "r.(?)" "p.(Leu464Arg)" "" ""
"0000788186" "00005380" "70" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Tyr357Cys)" "" ""
"0000788187" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000788190" "00005380" "70" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" ""
"0000788191" "00005380" "70" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" ""
"0000788192" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000788193" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000788194" "00005380" "70" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Leu541Phe)" "" ""
"0000788195" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000788196" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000788198" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000788199" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000788332" "00005380" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Cys)" "8" ""
"0000790902" "00005380" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "8" ""
"0000790903" "00005380" "70" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Val266Met)" "8" ""
"0000790906" "00005380" "70" "1856" "0" "1856" "0" "c.1856C>T" "r.(?)" "p.(Ala619Val)" "8" ""
"0000790907" "00005380" "70" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "4" ""
"0000790908" "00005380" "70" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "8" ""
"0000790909" "00005380" "70" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "8" ""
"0000790918" "00005380" "70" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Ile522Thr)" "8" ""
"0000790919" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "8" ""
"0000790920" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "8" ""
"0000790926" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000790927" "00005380" "70" "1718" "0" "1718" "0" "c.1718A>G" "r.(?)" "p.(Tyr573Cys)" "8" ""
"0000790928" "00005380" "70" "485" "0" "485" "0" "c.485A>T" "r.(?)" "p.(Asp162Val)" "6" ""
"0000791141" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "8" ""
"0000791157" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "8" ""
"0000791158" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "8" ""
"0000791176" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000791184" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "8" ""
"0000791205" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "8" ""
"0000791235" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "8" ""
"0000791245" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "8" ""
"0000791246" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "8" ""
"0000791253" "00005380" "70" "1379" "0" "1379" "0" "c.1379T>C" "r.(?)" "p.(Leu460Pro)" "8" ""
"0000791264" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000791902" "00005380" "90" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "8" ""
"0000791903" "00005380" "90" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "8" ""
"0000791904" "00005380" "90" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "8" ""
"0000791905" "00005380" "90" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "8" ""
"0000792331" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000792332" "00005380" "70" "1001" "0" "1001" "0" "c.1001C>T" "r.(?)" "p.(Ser334Phe)" "" ""
"0000794120" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000794226" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000794227" "00005380" "70" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Leu185Val)" "" ""
"0000794734" "00005380" "70" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Leu186Phe)" "" ""
"0000794808" "00005380" "70" "162" "0" "163" "0" "c.162_163insT" "r.(?)" "p.(Arg55*)" "" ""
"0000794809" "00005380" "70" "162" "0" "163" "0" "c.162_163insT" "r.(?)" "p.(Arg55*)" "" ""
"0000794826" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000794827" "00005380" "70" "829" "0" "829" "0" "c.829C>G" "r.(?)" "p.(Arg277Gly)" "" ""
"0000794828" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000794829" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000794961" "00005380" "50" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "7" ""
"0000794962" "00005380" "50" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "6" ""
"0000795722" "00005380" "70" "101" "1" "101" "1" "c.101+1G>A" "r.spl" "p.(?)" "" ""
"0000795723" "00005380" "70" "101" "1" "101" "1" "c.101+1G>A" "r.spl" "p.(?)" "" ""
"0000795724" "00005380" "70" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000795725" "00005380" "70" "101" "1" "101" "1" "c.101+1G>A" "r.spl" "p.(?)" "" ""
"0000795727" "00005380" "70" "395" "1" "395" "1" "c.395+1G>T" "r.spl" "p.(?)" "" ""
"0000795728" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" ""
"0000795729" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" ""
"0000796079" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000796080" "00005380" "90" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "8" ""
"0000796081" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" ""
"0000796082" "00005380" "70" "485" "0" "485" "0" "c.485A>T" "r.(?)" "p.(Asp162Val)" "6" ""
"0000796083" "00005380" "90" "536" "0" "536" "0" "c.536T>A" "r.(?)" "p.(Val179Asp)" "6" ""
"0000796084" "00005380" "70" "1001" "0" "1001" "0" "c.1001C>T" "r.(?)" "p.(Ser334Phe)" "8" ""
"0000796085" "00005380" "70" "1360" "0" "1360" "0" "c.1360A>T" "r.(?)" "p.(Lys454*)" "8" ""
"0000796086" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "8" ""
"0000796087" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "7" ""
"0000796088" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "8" ""
"0000796089" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "8" ""
"0000796090" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "8" ""
"0000796091" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000796092" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "8" ""
"0000796093" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000796094" "00005380" "90" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "8" ""
"0000796095" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "7" ""
"0000796096" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "8" ""
"0000796097" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000796098" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "7" ""
"0000796099" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "8" ""
"0000796100" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "8" ""
"0000796101" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000796102" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000796103" "00005380" "90" "1443" "0" "1444" "0" "c.1443_1444insC" "r.(?)" "p.(Ile482Hisfs*6)" "8" ""
"0000796104" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "8" ""
"0000796105" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "7" ""
"0000796106" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "8" ""
"0000796107" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" ""
"0000797218" "00005380" "90" "-37" "-1" "-37" "-1" "c.-37-1G>C" "r.spl" "p.(?)" "" ""
"0000797219" "00005380" "90" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290His)" "" ""
"0000797220" "00005380" "90" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290His)" "" ""
"0000797221" "00005380" "90" "1777" "0" "1777" "0" "c.1777G>A" "r.(?)" "p.(Glu593Lys)" "" ""
"0000797222" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000797223" "00005380" "90" "1217" "0" "1217" "0" "c.1217T>C" "r.(?)" "p.(Met406Thr)" "" ""
"0000797224" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000797225" "00005380" "90" "1320" "0" "1320" "0" "c.1320G>A" "r.(?)" "p.(Trp440*)" "" ""
"0000797226" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000797227" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000797400" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000797401" "00005380" "70" "1256" "0" "1256" "0" "c.1256C>T" "r.(?)" "p.(Ser419Phe)" "" ""
"0000797402" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000797403" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000797404" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000797448" "00005380" "70" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" ""
"0000797449" "00005380" "70" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" ""
"0000797450" "00005380" "70" "945" "0" "945" "0" "c.945C>G" "r.(?)" "p.(His315Gln)" "" ""
"0000798424" "00005380" "50" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "8" ""
"0000800869" "00005380" "30" "198" "0" "198" "0" "c.198C>T" "r.(?)" "p.(Thr66=)" "" ""
"0000811396" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000811397" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000811398" "00005380" "70" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000811399" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000811400" "00005380" "70" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" ""
"0000811401" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000811402" "00005380" "70" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Cys486Tyr)" "" ""
"0000811503" "00005380" "50" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Leu185Val)" "" ""
"0000811533" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000812511" "00005380" "70" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Phe330Ser)" "" ""
"0000812512" "00005380" "70" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000812534" "00005380" "70" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000812535" "00005380" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "" ""
"0000812606" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358*)" "" ""
"0000812607" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000812628" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000812629" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" ""
"0000812677" "00005380" "70" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Pro505Ala)" "" ""
"0000812678" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000812739" "00005380" "90" "1627" "0" "1635" "0" "c.1627_1635del" "r.(?)" "p.(Asp543_Ser545del)" "" ""
"0000812744" "00005380" "70" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21*)" "" ""
"0000812745" "00005380" "90" "128" "0" "128" "0" "c.128C>A" "r.(?)" "p.(Ser43*)" "" ""
"0000812753" "00005380" "70" "838" "0" "838" "0" "c.838A>T" "r.(?)" "p.(Lys280*)" "" ""
"0000812754" "00005380" "70" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Phe330Ser)" "" ""
"0000812779" "00005380" "70" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Arg436Gln)" "" ""
"0000812783" "00005380" "70" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Phe330Ser)" "" ""
"0000812784" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358*)" "" ""
"0000812844" "00005380" "90" "396" "-11" "396" "-11" "c.396-11C>G" "r.spl" "p.(?)" "" ""
"0000812845" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000812849" "00005380" "90" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000813898" "00005380" "70" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Ile187Thr)" "" ""
"0000815514" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000815529" "00005380" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000815564" "00005380" "70" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Arg427His)" "" ""
"0000815571" "00005380" "50" "616" "0" "616" "0" "c.616C>A" "r.(?)" "p.(Leu206Met)" "" ""
"0000816160" "00005380" "90" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Glu344*)" "" ""
"0000816464" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000817646" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000817647" "00005380" "70" "1981" "0" "1981" "0" "c.1981C>A" "r.(?)" "p.(Arg661Ser)" "" ""
"0000817648" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000817649" "00005380" "70" "1981" "0" "1981" "0" "c.1981C>A" "r.(?)" "p.(Arg661Ser)" "" ""
"0000819323" "00005380" "70" "872" "0" "872" "0" "c.872C>G" "r.(?)" "p.(Thr291Arg)" "" ""
"0000819324" "00005380" "70" "872" "0" "872" "0" "c.872C>G" "r.(?)" "p.(Thr291Arg)" "" ""
"0000819834" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000820307" "00005380" "70" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000820315" "00005380" "70" "625" "0" "625" "0" "c.625T>C" "r.(?)" "p.(Ser209Pro)" "" ""
"0000820332" "00005380" "70" "906" "0" "906" "0" "c.906G>T" "r.(?)" "p.(Arg302Ser)" "" ""
"0000820399" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000820426" "00005380" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000820427" "00005380" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000820432" "00005380" "70" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000820446" "00005380" "70" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Leu167Cysfs*6)" "" ""
"0000820447" "00005380" "70" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Leu167Cysfs*6)" "" ""
"0000820450" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000820458" "00005380" "70" "1255" "0" "1255" "0" "c.1255T>C" "r.(?)" "p.(Ser419Pro)" "" ""
"0000820475" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000820503" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000820531" "00005380" "70" "704" "0" "704" "0" "c.704A>T" "r.(?)" "p.(Asp235Val)" "" ""
"0000820585" "00005380" "70" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" ""
"0000820588" "00005380" "70" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Gln604*)" "" ""
"0000820603" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "" ""
"0000820614" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000820615" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000820730" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000820864" "00005380" "70" "1319" "0" "1319" "0" "c.1319G>C" "r.(?)" "p.(Trp440Ser)" "" ""
"0000820898" "00005380" "70" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Gly561Glu)" "" ""
"0000820918" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000820919" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000820920" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000820926" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000820958" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000820988" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000820991" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000821213" "00005380" "70" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" ""
"0000821214" "00005380" "70" "107" "0" "110" "0" "c.107_110del" "r.(?)" "p.(His36Argfs*136)" "" ""
"0000821537" "00005380" "70" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000821538" "00005380" "70" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000822056" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000822472" "00005380" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "8" ""
"0000822473" "00005380" "70" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Arg563Cys)" "8" ""
"0000822973" "00005380" "70" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000822982" "00005380" "70" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569Cys)" "" ""
"0000823251" "00005380" "70" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Tyr208*)" "" ""
"0000823272" "00005380" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000823285" "00005380" "50" "1453" "0" "1453" "0" "c.1453G>T" "r.(?)" "p.(Asp485Tyr)" "" ""
"0000823576" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000823577" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000823578" "00005380" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000823579" "00005380" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000823580" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000823581" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000823588" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000823589" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000823590" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000823595" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000823596" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000823597" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000823598" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000823599" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000823600" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000823605" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000823606" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000823607" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000823702" "00005380" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000823703" "00005380" "90" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000823746" "00005380" "70" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21*)" "" ""
"0000823747" "00005380" "70" "128" "0" "128" "0" "c.128C>A" "r.(?)" "p.(Ser43*)" "" ""
"0000823748" "00005380" "70" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21*)" "" ""
"0000823749" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000823750" "00005380" "70" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Lys155Argfs*18)" "" ""
"0000823751" "00005380" "70" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Trp171Cys)" "" ""
"0000823752" "00005380" "70" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Lys155Argfs*18)" "" ""
"0000823753" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358*)" "" ""
"0000823754" "00005380" "70" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000823755" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000823756" "00005380" "70" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Trp171Cys)" "" ""
"0000823757" "00005380" "70" "633" "0" "633" "0" "c.633T>A" "r.(?)" "p.(Asp211Glu)" "" ""
"0000823758" "00005380" "70" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Trp171Cys)" "" ""
"0000823759" "00005380" "70" "1627" "0" "1635" "0" "c.1627_1635del" "r.(?)" "p.(Asp543_Ser545del)" "" ""
"0000823760" "00005380" "70" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "" ""
"0000823761" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000823762" "00005380" "70" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(Gln196Arg)" "" ""
"0000823763" "00005380" "70" "872" "0" "873" "0" "c.872_873del" "r.(?)" "p.(Thr291Argfs*77)" "" ""
"0000823764" "00005380" "70" "609" "0" "609" "0" "c.609G>A" "r.(?)" "p.(Trp203*)" "" ""
"0000823765" "00005380" "70" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Cys)" "" ""
"0000823766" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" ""
"0000823767" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000823768" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000823769" "00005380" "70" "1793" "0" "1793" "0" "c.1793T>G" "r.(?)" "p.(Leu598Arg)" "" ""
"0000823770" "00005380" "70" "674" "-2" "674" "-2" "c.674-2A>C" "r.spl" "p.(?)" "" ""
"0000823771" "00005380" "70" "1294" "0" "1294" "0" "c.1294G>T" "r.(?)" "p.(Asp432Tyr)" "" ""
"0000823772" "00005380" "70" "755" "0" "755" "0" "c.755A>C" "r.(?)" "p.(Asp252Ala)" "" ""
"0000823773" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000823774" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000823775" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000823776" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000823777" "00005380" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000823778" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000823779" "00005380" "70" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" ""
"0000823780" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000823781" "00005380" "70" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Ser570Asn)" "" ""
"0000823782" "00005380" "70" "833" "0" "833" "0" "c.833T>C" "r.(?)" "p.(Leu278Pro)" "" ""
"0000823783" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000823784" "00005380" "70" "833" "0" "833" "0" "c.833T>C" "r.(?)" "p.(Leu278Pro)" "" ""
"0000823785" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000823786" "00005380" "70" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Ala318Thr)" "" ""
"0000823787" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000823788" "00005380" "70" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Cys)" "" ""
"0000823789" "00005380" "70" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Trp440*)" "" ""
"0000823790" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358*)" "" ""
"0000823791" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358*)" "" ""
"0000823792" "00005380" "70" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661His)" "" ""
"0000823793" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358*)" "" ""
"0000823794" "00005380" "70" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Gly388Val)" "" ""
"0000823795" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358*)" "" ""
"0000823796" "00005380" "70" "1627" "0" "1635" "0" "c.1627_1635del" "r.(?)" "p.(Asp543_Ser545del)" "" ""
"0000823797" "00005380" "70" "1116" "0" "1116" "0" "c.1116dup" "r.(?)" "p.(Val373Argfs*4)" "" ""
"0000823798" "00005380" "70" "1116" "0" "1116" "0" "c.1116dup" "r.(?)" "p.(Val373Argfs*4)" "" ""
"0000823799" "00005380" "70" "1811" "0" "1811" "0" "c.1811del" "r.(?)" "p.(Gln604Argfs*3)" "" ""
"0000823800" "00005380" "70" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Asp375Gly)" "" ""
"0000823801" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000823802" "00005380" "70" "1163" "0" "1163" "0" "c.1163G>A" "r.(?)" "p.(Gly388Asp)" "" ""
"0000823803" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000823804" "00005380" "70" "1267" "0" "1267" "0" "c.1267dup" "r.(?)" "p.(Tyr423Leufs*20)" "" ""
"0000823805" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000823806" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000823807" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000823808" "00005380" "70" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Arg563Cys)" "" ""
"0000823809" "00005380" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000823810" "00005380" "70" "1435" "0" "1435" "0" "c.1435A>G" "r.(?)" "p.(Lys479Glu)" "" ""
"0000823811" "00005380" "70" "1436" "0" "1436" "0" "c.1436A>T" "r.(?)" "p.(Lys479Met)" "" ""
"0000823812" "00005380" "70" "1569" "0" "1577" "0" "c.1569_1577del" "r.(?)" "p.(Asn523_Gly525del)" "" ""
"0000823813" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000823814" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000823815" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000824111" "00005380" "30" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Met)" "" ""
"0000824112" "00005380" "30" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Met)" "" ""
"0000824121" "00005380" "70" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" ""
"0000824123" "00005380" "70" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" ""
"0000824149" "00005380" "30" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Met)" "" ""
"0000824150" "00005380" "30" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Met)" "" ""
"0000824159" "00005380" "70" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" ""
"0000824161" "00005380" "70" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" ""
"0000826458" "00005380" "50" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "8" ""
"0000826459" "00005380" "50" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "8" ""
"0000826460" "00005380" "50" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000826461" "00005380" "50" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000826462" "00005380" "50" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000826463" "00005380" "50" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000826464" "00005380" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Gly388Ser)" "8" ""
"0000826465" "00005380" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Gly388Ser)" "8" ""
"0000826466" "00005380" "50" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000826467" "00005380" "50" "1060" "0" "1060" "0" "c.1060T>C" "r.(?)" "p.(Tyr354His)" "8" ""
"0000826468" "00005380" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "8" ""
"0000826469" "00005380" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "8" ""
"0000826470" "00005380" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "8" ""
"0000826471" "00005380" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "8" ""
"0000829788" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000831998" "00005380" "70" "485" "0" "485" "0" "c.485A>T" "r.(?)" "p.(Asp162Val)" "5" ""
"0000831999" "00005380" "70" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "5" ""
"0000832000" "00005380" "70" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "5" ""
"0000832001" "00005380" "70" "544" "0" "544" "0" "c.544A>T" "r.(?)" "p.(Asn182Tyr)" "5" ""
"0000832002" "00005380" "70" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Leu186Phe)" "5" ""
"0000832003" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "6" ""
"0000832004" "00005380" "70" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Gly267Asp)" "7" ""
"0000832005" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000832006" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000832007" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "7" ""
"0000832008" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "7" ""
"0000832009" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832010" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832011" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832012" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832013" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832014" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832015" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832016" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "7" ""
"0000832017" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "7" ""
"0000832018" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "7" ""
"0000832019" "00005380" "70" "1217" "0" "1217" "0" "c.1217T>C" "r.(?)" "p.(Met406Thr)" "7" ""
"0000832020" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "7" ""
"0000832021" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000832022" "00005380" "70" "1320" "0" "1320" "0" "c.1320G>A" "r.(?)" "p.(Trp440*)" "7" ""
"0000832023" "00005380" "70" "1320" "0" "1320" "0" "c.1320G>A" "r.(?)" "p.(Trp440*)" "7" ""
"0000832024" "00005380" "70" "1320" "0" "1320" "0" "c.1320G>A" "r.(?)" "p.(Trp440*)" "7" ""
"0000832025" "00005380" "70" "1529" "0" "1529" "0" "c.1529G>C" "r.(?)" "p.(Cys510Ser)" "7" ""
"0000832026" "00005380" "70" "1538" "0" "1538" "0" "c.1538G>A" "r.(?)" "p.(Gly513Glu)" "7" ""
"0000832027" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832028" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832029" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832030" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832031" "00005380" "70" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "5" ""
"0000832032" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "6" ""
"0000832033" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "6" ""
"0000832034" "00005380" "70" "671" "0" "671" "0" "c.671C>G" "r.(?)" "p.(Thr224Arg)" "6" ""
"0000832035" "00005380" "70" "671" "0" "671" "0" "c.671C>G" "r.(?)" "p.(Thr224Arg)" "6" ""
"0000832036" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000832037" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000832038" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832039" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832040" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832041" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832042" "00005380" "70" "872" "0" "872" "0" "c.872C>G" "r.(?)" "p.(Thr291Arg)" "7" ""
"0000832043" "00005380" "70" "872" "0" "872" "0" "c.872C>G" "r.(?)" "p.(Thr291Arg)" "7" ""
"0000832044" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "7" ""
"0000832045" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "7" ""
"0000832046" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000832047" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000832048" "00005380" "70" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Ile522Thr)" "7" ""
"0000832049" "00005380" "70" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Gly525Asp)" "7" ""
"0000832050" "00005380" "70" "1777" "0" "1777" "0" "c.1777G>A" "r.(?)" "p.(Glu593Lys)" "7" ""
"0000832051" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000832052" "00005380" "70" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Asn471Ser)" "7" ""
"0000832053" "00005380" "70" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "7" ""
"0000832054" "00005380" "70" "148" "0" "149" "0" "c.148_149insG" "r.(?)" "p.(Ile50Serfs*10)" "2" ""
"0000832055" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "6" ""
"0000832056" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000832057" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000832058" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "7" ""
"0000832059" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "7" ""
"0000832060" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832061" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832062" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832063" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "7" ""
"0000832064" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "7" ""
"0000832065" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "7" ""
"0000832066" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000832067" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832068" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000832069" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "7" ""
"0000832070" "00005380" "70" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Gln655*)" "7" ""
"0000832071" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832072" "00005380" "70" "1718" "0" "1718" "0" "c.1718A>G" "r.(?)" "p.(Tyr573Cys)" "7" ""
"0000832073" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "7" ""
"0000832074" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "7" ""
"0000832075" "00005380" "70" "1139" "0" "1139" "0" "c.1139T>C" "r.(?)" "p.(Phe380Ser)" "7" ""
"0000832076" "00005380" "70" "1454" "0" "1454" "0" "c.1454A>T" "r.(?)" "p.(Asp485Val)" "7" ""
"0000832077" "00005380" "70" "1454" "0" "1454" "0" "c.1454A>T" "r.(?)" "p.(Asp485Val)" "7" ""
"0000832078" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "7" ""
"0000832079" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832080" "00005380" "70" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(Gly516Glu)" "7" ""
"0000832081" "00005380" "70" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(Gly516Glu)" "7" ""
"0000832082" "00005380" "70" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(Gly516Glu)" "7" ""
"0000832083" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "7" ""
"0000832084" "00005380" "70" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Glu194Lys)" "6" ""
"0000832085" "00005380" "70" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "7" ""
"0000832086" "00005380" "70" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.(Thr369Ser)" "7" ""
"0000832087" "00005380" "70" "1105" "0" "1105" "0" "c.1105A>T" "r.(?)" "p.(Thr369Ser)" "7" ""
"0000832088" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "7" ""
"0000832089" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "7" ""
"0000832090" "00005380" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "7" ""
"0000832091" "00005380" "70" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "7" ""
"0000832092" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832093" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832094" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000832095" "00005380" "70" "1351" "0" "1351" "0" "c.1351dup" "r.(?)" "p.(Val451Glyfs*3)" "7" ""
"0000832096" "00005380" "70" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "7" ""
"0000832097" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832098" "00005380" "70" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "7" ""
"0000832099" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "7" ""
"0000832100" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "7" ""
"0000832101" "00005380" "70" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316*)" "7" ""
"0000832102" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000832103" "00005380" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Gln537*)" "7" ""
"0000832104" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "7" ""
"0000832118" "00005380" "70" "671" "0" "671" "0" "c.671C>G" "r.(?)" "p.Thr224Arg" "6" ""
"0000832119" "00005380" "70" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.Thr369Ser" "7" ""
"0000832120" "00005380" "70" "671" "0" "671" "0" "c.671C>G" "r.(?)" "p.Thr224Arg" "6" ""
"0000832121" "00005380" "70" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.Thr369Ser" "7" ""
"0000832123" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.R436W" "" ""
"0000832124" "00005380" "90" "1898" "0" "1898" "0" "c.1898T>C" "r.(?)" "p.L633P" "" ""
"0000832137" "00005380" "70" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" ""
"0000832138" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000832139" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832140" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832141" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832142" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832143" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000832144" "00005380" "70" "1351" "0" "1351" "0" "c.1351dup" "r.(?)" "p.(Val451Glyfs*3)" "" ""
"0000832145" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832146" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832147" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832148" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832149" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832150" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832151" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832152" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832153" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832154" "00005380" "70" "1687" "0" "1687" "0" "c.1687C > T" "r.(?)" "p.(Arg563Cys)" "" ""
"0000832319" "00005380" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000832320" "00005380" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000832321" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000832322" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000832323" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000832324" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000832325" "00005380" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000832326" "00005380" "70" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" ""
"0000832327" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832328" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832329" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832330" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832331" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832332" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832333" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832334" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832335" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832336" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832337" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832338" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832339" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832340" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832341" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832342" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832343" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000832344" "00005380" "70" "1298" "0" "1298" "0" "c.1298T>G" "r.(?)" "p.(Leu433Trp)" "" ""
"0000832345" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000832346" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000832347" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832348" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832349" "00005380" "70" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "" ""
"0000832350" "00005380" "70" "479" "0" "479" "0" "c.479T>G" "r.(?)" "p.(Val160Gly)" "" ""
"0000832351" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832352" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832353" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832354" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832355" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832356" "00005380" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Cys319fsTer)" "" ""
"0000832357" "00005380" "70" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Ala222Pro)" "" ""
"0000832358" "00005380" "70" "667" "0" "667" "0" "c.667C>G" "r.(?)" "p.(Arg223Gly)" "" ""
"0000832365" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832366" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832367" "00005380" "70" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" ""
"0000832368" "00005380" "70" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" ""
"0000832369" "00005380" "70" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" ""
"0000832370" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832371" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832372" "00005380" "70" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" ""
"0000832373" "00005380" "70" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" ""
"0000832376" "00005380" "90" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "" ""
"0000832377" "00005380" "90" "1088" "0" "1088" "0" "c.1088T>C" "r.(?)" "p.(Leu363Pro)" "" ""
"0000832378" "00005380" "90" "1088" "0" "1088" "0" "c.1088T>C" "r.(?)" "p.(Leu363Pro)" "" ""
"0000832379" "00005380" "90" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Gly367Val)" "" ""
"0000832380" "00005380" "90" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Gly367Val)" "" ""
"0000832381" "00005380" "90" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Gly367Val)" "" ""
"0000832382" "00005380" "90" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Gly367Val)" "" ""
"0000832383" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000832384" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000832385" "00005380" "90" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "" ""
"0000832386" "00005380" "70" "829" "0" "829" "0" "c.829C>G" "r.(?)" "p.(Arg277Gly)" "" ""
"0000832405" "00005380" "70" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Tyr357Cys)" "" ""
"0000832406" "00005380" "70" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000832441" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "6" ""
"0000832443" "00005380" "70" "1709" "0" "1709" "0" "c.1709G>T" "r.(?)" "p.(Ser570Ile)" "7" ""
"0000832445" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "7" ""
"0000832448" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "7" ""
"0000832450" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "7" ""
"0000832451" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "7" ""
"0000832452" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "7" ""
"0000832453" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000832454" "00005380" "70" "1541" "0" "1541" "0" "c.1541A>T" "r.(?)" "p.(Asp514Val)" "7" ""
"0000832455" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000832456" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "7" ""
"0000832457" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832458" "00005380" "70" "1580" "0" "1580" "0" "c.1580T>G" "r.(?)" "p.(Leu527Arg)" "" ""
"0000832459" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832460" "00005380" "70" "1580" "0" "1580" "0" "c.1580T>G" "r.(?)" "p.(Leu527Arg)" "" ""
"0000832510" "00005380" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "7" ""
"0000832511" "00005380" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "7" ""
"0000832512" "00005380" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "7" ""
"0000832513" "00005380" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "7" ""
"0000832514" "00005380" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "7" ""
"0000832515" "00005380" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "7" ""
"0000832516" "00005380" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "7" ""
"0000832519" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832520" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832521" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832523" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832524" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832526" "00005380" "70" "107" "0" "110" "0" "c.107_110del" "r.(?)" "p.(His36Argfs*136)" "" ""
"0000832527" "00005380" "70" "107" "0" "110" "0" "c.107_110del" "r.(?)" "p.(His36Argfs*136)" "" ""
"0000832529" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000832530" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000832532" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832533" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832534" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000832535" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000832536" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000832543" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000832544" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832545" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832546" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832550" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832551" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000832555" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000832556" "00005380" "70" "940" "0" "942" "0" "c.940_942delATC" "r.(?)" "p.(Ile314del)" "" ""
"0000832559" "00005380" "70" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Tyr357Cys)" "" ""
"0000832565" "00005380" "70" "1981" "0" "1981" "0" "c.1981C>A" "r.(?)" "p.(Arg661Ser)" "" ""
"0000832566" "00005380" "70" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000832570" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000832571" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000832572" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000832573" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000832577" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832578" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832579" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832580" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832581" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832582" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832583" "00005380" "70" "130" "0" "151" "0" "c.130_151dup" "r.(?)" "p.(Ala51ValfsTer16)" "" ""
"0000832584" "00005380" "70" "130" "0" "151" "0" "c.130_151dup" "r.(?)" "p.(Ala51ValfsTer16)" "" ""
"0000832585" "00005380" "70" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "" ""
"0000832586" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832587" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832588" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832589" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832590" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000832591" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832592" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832593" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832594" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832595" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000832596" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000832597" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832598" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832599" "00005380" "70" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Arg302Gly)" "" ""
"0000832600" "00005380" "70" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Arg302Gly)" "" ""
"0000832601" "00005380" "70" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Arg302Gly)" "" ""
"0000832602" "00005380" "70" "1640" "0" "1640" "0" "c.1640T>G" "r.(?)" "p.(Phe547Cys)" "" ""
"0000832603" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832604" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832605" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832606" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832607" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832608" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000832609" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000832610" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000832611" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000832612" "00005380" "70" "130" "0" "151" "0" "c.130_151dup" "r.(?)" "p.(Ala51ValfsTer16)" "" ""
"0000832613" "00005380" "70" "130" "0" "151" "0" "c.130_151dup" "r.(?)" "p.(Ala51ValfsTer16)" "" ""
"0000832614" "00005380" "70" "130" "0" "151" "0" "c.130_151dup" "r.(?)" "p.(Ala51ValfsTer16)" "" ""
"0000832615" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832616" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832617" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832618" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832619" "00005380" "70" "130" "0" "151" "0" "c.130_151dup" "r.(?)" "p.(Ala51ValfsTer16)" "" ""
"0000832620" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832621" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832622" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832623" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832624" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832625" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832626" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832627" "00005380" "70" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "" ""
"0000832628" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832629" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832630" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832631" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832632" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832633" "00005380" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "" ""
"0000832634" "00005380" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "" ""
"0000832635" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000832636" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832637" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832638" "00005380" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "" ""
"0000832639" "00005380" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "" ""
"0000832640" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832641" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000832642" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000832643" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832644" "00005380" "70" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" ""
"0000832645" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000832646" "00005380" "70" "811" "0" "811" "0" "c.811C>G" "r.(?)" "p.(Pro271Ala)" "" ""
"0000832647" "00005380" "70" "1640" "0" "1640" "0" "c.1640T>G" "r.(?)" "p.(Phe547Cys)" "" ""
"0000832648" "00005380" "70" "1640" "0" "1640" "0" "c.1640T>G" "r.(?)" "p.(Phe547Cys)" "" ""
"0000832649" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832650" "00005380" "70" "1640" "0" "1640" "0" "c.1640T>G" "r.(?)" "p.(Phe547Cys)" "" ""
"0000832651" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832652" "00005380" "70" "1294" "0" "1294" "0" "c.1294del" "r.(?)" "p.(Asp432ThrfsTer33)" "" ""
"0000832653" "00005380" "70" "1294" "0" "1294" "0" "c.1294del" "r.(?)" "p.(Asp432ThrfsTer33)" "" ""
"0000832654" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832655" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832656" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832657" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000832658" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000832659" "00005380" "70" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000832660" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832661" "00005380" "70" "1454" "0" "1454" "0" "c.1454A>T" "r.(?)" "p.(Asp485Val)" "" ""
"0000832662" "00005380" "70" "1454" "0" "1454" "0" "c.1454A>T" "r.(?)" "p.(Asp485Val)" "" ""
"0000832663" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832664" "00005380" "70" "1981" "0" "1981" "0" "c.1981C>A" "r.(?)" "p.(Arg661Ser)" "" ""
"0000832665" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000832666" "00005380" "70" "1351" "0" "1351" "0" "c.1351dup" "r.(?)" "p.(Val451Glyfs*3)" "" ""
"0000832675" "00005380" "70" "40" "0" "40" "0" "c.40del" "r.(?)" "p.(Thr14Profs*5)" "" ""
"0000832676" "00005380" "70" "1058" "0" "1058" "0" "c.1058T>C" "r.(?)" "p.(Ile353Thr)" "" ""
"0000832677" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000832678" "00005380" "70" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Trp171Cys)" "" ""
"0000832679" "00005380" "70" "633" "0" "633" "0" "c.633T>A" "r.(?)" "p.(Asp211Glu)" "" ""
"0000832680" "00005380" "70" "633" "0" "633" "0" "c.633T>A" "r.(?)" "p.(Asp211Glu)" "" ""
"0000832681" "00005380" "70" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21*)" "" ""
"0000832682" "00005380" "70" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Gln196*)" "" ""
"0000832683" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832684" "00005380" "70" "1129" "0" "1131" "0" "c.1129_1131del" "r.(?)" "p.(Glu377del)" "" ""
"0000832685" "00005380" "70" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" ""
"0000832686" "00005380" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000832687" "00005380" "70" "1006" "0" "1006" "0" "c.1006G>T" "r.(?)" "p.(Val336Phe)" "" ""
"0000832688" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000832689" "00005380" "70" "1137" "0" "1139" "0" "c.1137_1139del" "r.(?)" "p.(Phe380del)" "" ""
"0000832691" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358Ter)" "" ""
"0000832692" "00005380" "70" "968" "0" "968" "0" "c.968C>A" "r.(?)" "p.(Ala323Asp)" "" ""
"0000832693" "00005380" "70" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000832694" "00005380" "70" "633" "0" "633" "0" "c.633T>A" "r.(?)" "p.(Asp211Glu)" "" ""
"0000832695" "00005380" "70" "1006" "0" "1006" "0" "c.1006G>T" "r.(?)" "p.(Val336Phe)" "" ""
"0000832696" "00005380" "70" "997" "0" "998" "0" "c.997_998delGA" "r.(?)" "p.(Asp333Leufs*35)" "7" ""
"0000832697" "00005380" "70" "1270" "0" "1270" "0" "c.1270A>G" "r.(?)" "p.(Met424Val)" "7" ""
"0000832705" "00005380" "70" "1235" "0" "1236" "0" "c.1235_1236del" "r.(?)" "p.(Glu412Valfs*6)" "" ""
"0000832710" "00005380" "70" "1235" "0" "1236" "0" "c.1235_1236del" "r.(?)" "p.(Glu412Valfs*6)" "" ""
"0000832713" "00005380" "70" "1235" "0" "1236" "0" "c.1235_1236del" "r.(?)" "p.(Glu412Valfs*6)" "" ""
"0000832717" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000832718" "00005380" "70" "464" "0" "464" "0" "c.464delA" "r.(?)" "p.(Lys155Argfs*18)" "" ""
"0000832719" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000832720" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832721" "00005380" "70" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "" ""
"0000832722" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832723" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" ""
"0000832724" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832733" "00005380" "70" "1320" "0" "1320" "0" "c.1320delG" "r.(?)" "p.(Trp440Cysfs*25)" "" ""
"0000832734" "00005380" "70" "464" "0" "464" "0" "c.464delA" "r.(?)" "p.(Lys155Argfs*18)" "" ""
"0000832735" "00005380" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000832736" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000832737" "00005380" "70" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "" ""
"0000832738" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832739" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000832740" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832751" "00005380" "70" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Arg563Cys)" "p.(Arg563Cys)" ""
"0000832752" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "p.(Arg436Trp)" ""
"0000832753" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "p.(Phe547Leu)" ""
"0000832754" "00005380" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "p.(Gly329Cys)" ""
"0000832755" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "p.(Arg283Gln)" ""
"0000832756" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "p.(Arg277Cys)" ""
"0000832757" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "p.(Arg410Trp)" ""
"0000832758" "00005380" "70" "940" "0" "942" "0" "c.940_942delATC" "r.(?)" "p.(Ile314del)" "p.(Ile314del)" ""
"0000832759" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "p.(Phe547Leu)" ""
"0000832760" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "p.(Arg410Gly)" ""
"0000832761" "00005380" "70" "1580" "0" "1580" "0" "c.1580T>G" "r.(?)" "p.(Leu527Arg)" "p.(Leu527Arg)" ""
"0000832762" "00005380" "70" "1580" "0" "1580" "0" "c.1580T>G" "r.(?)" "p.(Leu527Arg)" "p.(Leu527Arg)" ""
"0000832763" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "p.(Arg436Trp)" ""
"0000832764" "00005380" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "p.(Arg436Trp)" ""
"0000832765" "00005380" "70" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Pro271Ser)" "p.(Pro271Ser)" ""
"0000832766" "00005380" "70" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Val429Ala)" "p.(Val429Ala)" ""
"0000832767" "00005380" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Ter)" "p.(Arg221Ter)" ""
"0000832768" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "p.(Phe547Leu)" ""
"0000832769" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "p.(Asp260Asn)" ""
"0000832770" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "p.(Arg410Trp)" ""
"0000832771" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "p.(Phe547Leu)" ""
"0000832772" "00005380" "70" "1319" "0" "1319" "0" "c.1319G>C" "r.(?)" "p.(Trp440Ser)" "p.(Trp440Ser)" ""
"0000832774" "00005380" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "p.(Pro372Ser)" ""
"0000832775" "00005380" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Gly602Glu)" "p.(Gly602Glu)" ""
"0000832776" "00005380" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Gly602Glu)" "p.(Gly602Glu)" ""
"0000832777" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "p.(Arg427Cys)" ""
"0000832778" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "p.(Arg427Cys)" ""
"0000832779" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "p.(Arg277Cys)" ""
"0000832780" "00005380" "70" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Trp203*)" "p.(Trp203Ter)" ""
"0000832781" "00005380" "90" "778" "0" "778" "0" "c.778G>C" "r.(?)" "p.(Asp260His)" "" ""
"0000832782" "00005380" "70" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000832783" "00005380" "70" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000832784" "00005380" "70" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000832785" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832786" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832787" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000832788" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000832789" "00005380" "70" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000832790" "00005380" "70" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000832791" "00005380" "70" "872" "0" "872" "0" "c.872C>G" "r.(?)" "p.(Thr291Arg)" "" ""
"0000832792" "00005380" "70" "872" "0" "872" "0" "c.872C>G" "r.(?)" "p.(Thr291Arg)" "" ""
"0000832793" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832794" "00005380" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000832795" "00005380" "70" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000832796" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000832797" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000846839" "00005380" "70" "1541" "0" "1541" "0" "c.1541A>T" "r.(1541a>u)" "p.(Asp514Val)" "" ""
"0000846840" "00005380" "70" "1981" "0" "1981" "0" "c.1981C>A" "r.(1981c>a)" "p.(Arg661Ser)" "" ""
"0000850075" "00005380" "90" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000850076" "00005380" "30" "1101" "0" "1101" "0" "c.1101T>C" "r.(?)" "p.(Gly367=)" "" ""
"0000850077" "00005380" "70" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" ""
"0000850078" "00005380" "30" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000850079" "00005380" "30" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Leu640=)" "" ""
"0000858732" "00005380" "30" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Pro48=)" "" ""
"0000858733" "00005380" "30" "198" "0" "198" "0" "c.198C>T" "r.(?)" "p.(Thr66=)" "" ""
"0000858734" "00005380" "90" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000874006" "00005380" "90" "567" "-11" "567" "-11" "c.567-11G>A" "r.spl" "p.?" "" ""
"0000876545" "00005380" "70" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000876546" "00005380" "70" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000876547" "00005380" "70" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000876548" "00005380" "70" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000876561" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000876562" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000876563" "00005380" "70" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000876564" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000881420" "00005380" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000881421" "00005380" "70" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Gly513Arg)" "" ""
"0000881422" "00005380" "90" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000881423" "00005380" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000881454" "00005380" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000881455" "00005380" "70" "1720" "0" "1720" "0" "c.1720T>C" "r.(?)" "p.(Ser574Pro)" "" ""
"0000881456" "00005380" "70" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Cys)" "" ""
"0000881478" "00005380" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "" ""
"0000881479" "00005380" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "" ""
"0000881480" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000881481" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000881482" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000881483" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000881484" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000881485" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000881486" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882148" "00005380" "10" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Met)" "" ""
"0000882149" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000882150" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000882151" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" ""
"0000882152" "00005380" "90" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000882153" "00005380" "90" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" ""
"0000882154" "00005380" "90" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000882155" "00005380" "70" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Trp335*)" "" ""
"0000882156" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882157" "00005380" "90" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316*)" "" ""
"0000882158" "00005380" "90" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "" ""
"0000882159" "00005380" "70" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Gln425*)" "" ""
"0000882160" "00005380" "70" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Glu344*)" "" ""
"0000882161" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000882162" "00005380" "70" "1061" "0" "1061" "0" "c.1061A>G" "r.(?)" "p.(Tyr354Cys)" "" ""
"0000882163" "00005380" "70" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Tyr357Cys)" "" ""
"0000882164" "00005380" "70" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Trp358*)" "" ""
"0000882165" "00005380" "50" "1889" "0" "1889" "0" "c.1889T>C" "r.(?)" "p.(Val630Ala)" "" ""
"0000882166" "00005380" "90" "1088" "0" "1088" "0" "c.1088T>C" "r.(?)" "p.(Leu363Pro)" "" ""
"0000882167" "00005380" "90" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Gly367Val)" "" ""
"0000882168" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000882169" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000882170" "00005380" "70" "811" "0" "811" "0" "c.811C>G" "r.(?)" "p.(Pro271Ala)" "" ""
"0000882171" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000882172" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "" ""
"0000882173" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000882174" "00005380" "70" "1981" "0" "1981" "0" "c.1981C>A" "r.(?)" "p.(Arg661Ser)" "" ""
"0000882175" "00005380" "70" "1116" "0" "1116" "0" "c.1116del" "r.(?)" "p.(Val373*)" "" ""
"0000882176" "00005380" "70" "1579" "0" "1579" "0" "c.1579C>A" "r.(?)" "p.(Leu527Met)" "" ""
"0000882177" "00005380" "90" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "" ""
"0000882178" "00005380" "90" "1139" "0" "1139" "0" "c.1139T>C" "r.(?)" "p.(Phe380Ser)" "" ""
"0000882179" "00005380" "90" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "" ""
"0000882180" "00005380" "70" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" ""
"0000882181" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000882182" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882183" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882184" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882185" "00005380" "90" "107" "0" "110" "0" "c.107_110del" "r.(?)" "p.(His36Argfs*136)" "" ""
"0000882186" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882187" "00005380" "90" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" ""
"0000882188" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882189" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882190" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882191" "00005380" "90" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000882192" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882193" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" ""
"0000882194" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882195" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" ""
"0000882196" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882197" "00005380" "70" "1351" "0" "1351" "0" "c.1351dup" "r.(?)" "p.(Val451Glyfs*3)" "" ""
"0000882198" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882199" "00005380" "70" "1319" "0" "1319" "0" "c.1319G>C" "r.(?)" "p.(Trp440Ser)" "" ""
"0000882200" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882201" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000882202" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882203" "00005380" "90" "332" "0" "333" "0" "c.332_333delinsAA" "r.(?)" "p.(Ser111*)" "" ""
"0000882204" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882205" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882206" "00005380" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000882207" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882208" "00005380" "90" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "" ""
"0000882209" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882210" "00005380" "50" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" ""
"0000882211" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882212" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000882213" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882214" "00005380" "50" "743" "0" "743" "0" "c.743A>G" "r.(?)" "p.(Gln248Arg)" "" ""
"0000882215" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882216" "00005380" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" ""
"0000882217" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882218" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882219" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882220" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882221" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882222" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882223" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882224" "00005380" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000882225" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882226" "00005380" "90" "1320" "0" "1320" "0" "c.1320del" "r.(?)" "p.(Trp440Cysfs*25)" "" ""
"0000882227" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882228" "00005380" "70" "1579" "0" "1579" "0" "c.1579C>A" "r.(?)" "p.(Leu527Met)" "" ""
"0000882229" "00005380" "90" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000882230" "00005380" "70" "1320" "0" "1320" "0" "c.1320G>A" "r.(?)" "p.(Trp440*)" "" ""
"0000882231" "00005380" "90" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(Gly516Glu)" "" ""
"0000882232" "00005380" "70" "1366" "0" "1366" "0" "c.1366del" "r.(?)" "p.(Val456Cysfs*9)" "" ""
"0000882233" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000882234" "00005380" "70" "1379" "0" "1379" "0" "c.1379del" "r.(?)" "p.(Leu460Profs*5)" "" ""
"0000882235" "00005380" "70" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" ""
"0000882236" "00005380" "70" "1391" "0" "1391" "0" "c.1391T>G" "r.(?)" "p.(Leu464Arg)" "" ""
"0000882237" "00005380" "70" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Leu541Phe)" "" ""
"0000882238" "00005380" "70" "1391" "0" "1391" "0" "c.1391T>G" "r.(?)" "p.(Leu464Arg)" "" ""
"0000882239" "00005380" "70" "1395" "0" "1412" "0" "c.1395_1412del" "r.(?)" "p.(Lys465_Ile470del)" "" ""
"0000882240" "00005380" "70" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Ile522Thr)" "" ""
"0000882241" "00005380" "70" "1443" "0" "1443" "0" "c.1443dup" "r.(?)" "p.(Ile482Hisfs*6)" "" ""
"0000882242" "00005380" "90" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" ""
"0000882243" "00005380" "70" "1443" "0" "1443" "0" "c.1443dup" "r.(?)" "p.(Ile482Hisfs*6)" "" ""
"0000882244" "00005380" "70" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Tyr591His)" "" ""
"0000882245" "00005380" "70" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Cys486Tyr)" "" ""
"0000882246" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000882247" "00005380" "70" "147" "0" "147" "0" "c.147dup" "r.(?)" "p.(Ile50Aspfs*10)" "" ""
"0000882248" "00005380" "90" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316*)" "" ""
"0000882249" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000882250" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000882251" "00005380" "70" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Gln47*)" "" ""
"0000882252" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000882253" "00005380" "50" "450" "-15" "450" "-15" "c.450-15T>G" "r.spl?" "p.?" "" ""
"0000882254" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000882255" "00005380" "90" "332" "0" "333" "0" "c.332_333delinsAA" "r.(?)" "p.(Ser111*)" "" ""
"0000882256" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000882257" "00005380" "50" "625" "0" "625" "0" "c.625T>C" "r.(?)" "p.(Ser209Pro)" "" ""
"0000882258" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000882259" "00005380" "70" "1201" "0" "1201" "0" "c.1201T>C" "r.(?)" "p.(Ser401Pro)" "" ""
"0000882260" "00005380" "90" "1529" "0" "1529" "0" "c.1529G>C" "r.(?)" "p.(Cys510Ser)" "" ""
"0000882261" "00005380" "90" "1538" "0" "1538" "0" "c.1538G>A" "r.(?)" "p.(Gly513Glu)" "" ""
"0000882262" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882263" "00005380" "90" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Gly525Asp)" "" ""
"0000882264" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000882265" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000882266" "00005380" "90" "162" "0" "163" "0" "c.162_163insT" "r.(?)" "p.(Arg55*)" "" ""
"0000882267" "00005380" "90" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" ""
"0000882268" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882269" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882270" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882271" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882272" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882273" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882274" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882275" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882276" "00005380" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000882277" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882278" "00005380" "90" "872" "0" "872" "0" "c.872C>G" "r.(?)" "p.(Thr291Arg)" "" ""
"0000882279" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882280" "00005380" "70" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Trp335*)" "" ""
"0000882281" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882282" "00005380" "50" "784" "0" "784" "0" "c.784G>C" "r.(?)" "p.(Ala262Pro)" "" ""
"0000882283" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882284" "00005380" "70" "955" "0" "963" "0" "c.955_963delinsACCAATGAAATGGAAAT" "r.(?)" "p.(Cys319Thrfs*46)" "" ""
"0000882285" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882286" "00005380" "90" "340" "0" "340" "0" "c.340G>T" "r.(?)" "p.(Glu114*)" "" ""
"0000882287" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882288" "00005380" "70" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Glu194Lys)" "" ""
"0000882289" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882290" "00005380" "70" "591" "0" "591" "0" "c.591del" "r.(?)" "p.(Glu198Serfs*3)" "" ""
"0000882291" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882292" "00005380" "70" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Gly561Glu)" "" ""
"0000882293" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882294" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882295" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882296" "00005380" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000882297" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882298" "00005380" "70" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Ile522Thr)" "" ""
"0000882299" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882300" "00005380" "70" "1391" "0" "1391" "0" "c.1391T>G" "r.(?)" "p.(Leu464Arg)" "" ""
"0000882301" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882302" "00005380" "70" "544" "0" "544" "0" "c.544A>T" "r.(?)" "p.(Asn182Tyr)" "" ""
"0000882303" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882304" "00005380" "70" "1682" "0" "1683" "0" "c.1682_1683insACGCG" "r.(?)" "p.(Asn562Argfs*47)" "" ""
"0000882305" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882306" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" ""
"0000882307" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882308" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882309" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882310" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000882311" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882312" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882313" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882314" "00005380" "70" "1255" "0" "1255" "0" "c.1255T>C" "r.(?)" "p.(Ser419Pro)" "" ""
"0000882315" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882316" "00005380" "50" "479" "0" "479" "0" "c.479T>G" "r.(?)" "p.(Val160Gly)" "" ""
"0000882317" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000882318" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000882319" "00005380" "90" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" ""
"0000882320" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000882321" "00005380" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000882322" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000882323" "00005380" "70" "1717" "0" "1717" "0" "c.1717T>C" "r.(?)" "p.(Tyr573His)" "" ""
"0000882324" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000882325" "00005380" "70" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569Cys)" "" ""
"0000882326" "00005380" "70" "1709" "0" "1709" "0" "c.1709G>T" "r.(?)" "p.(Ser570Ile)" "" ""
"0000882327" "00005380" "70" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Pro592Leu)" "" ""
"0000882328" "00005380" "70" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Gln604*)" "" ""
"0000882329" "00005380" "30" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Gln118Arg)" "" ""
"0000882330" "00005380" "50" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Val539Met)" "" ""
"0000882331" "00005380" "70" "384" "0" "387" "0" "c.384_387del" "r.(?)" "p.(Asp128Glufs*44)" "" ""
"0000882332" "00005380" "50" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000882333" "00005380" "70" "387" "0" "387" "0" "c.387del" "r.(?)" "p.(Arg131Glufs*42)" "" ""
"0000882334" "00005380" "70" "396" "-2" "398" "0" "c.396-2_398dup" "r.(?)" "p.?" "" ""
"0000882335" "00005380" "90" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Lys155Argfs*18)" "" ""
"0000882336" "00005380" "70" "485" "0" "485" "0" "c.485A>T" "r.(?)" "p.(Asp162Val)" "" ""
"0000882337" "00005380" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000882338" "00005380" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000882339" "00005380" "90" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Leu167Cysfs*6)" "" ""
"0000882340" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000882341" "00005380" "50" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000882342" "00005380" "70" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" ""
"0000882343" "00005380" "50" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000882344" "00005380" "50" "772" "0" "772" "0" "c.772C>G" "r.(?)" "p.(Pro258Ala)" "" ""
"0000882345" "00005380" "50" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171*)" "" ""
"0000882346" "00005380" "70" "983" "0" "983" "0" "c.983T>C" "r.(?)" "p.(Ile328Thr)" "" ""
"0000882347" "00005380" "90" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "" ""
"0000882348" "00005380" "90" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "" ""
"0000882349" "00005380" "70" "851" "0" "851" "0" "c.851del" "r.(?)" "p.(Leu284Profs*78)" "" ""
"0000882350" "00005380" "70" "544" "0" "544" "0" "c.544A>G" "r.(?)" "p.(Asn182Asp)" "" ""
"0000882351" "00005380" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" ""
"0000882352" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "" ""
"0000882353" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "" ""
"0000882354" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882355" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "" ""
"0000882356" "00005380" "70" "902" "0" "903" "0" "c.902_903delinsAA" "r.(?)" "p.(Phe301*)" "" ""
"0000882357" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "" ""
"0000882358" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000882359" "00005380" "50" "609" "0" "609" "0" "c.609G>T" "r.(?)" "p.(Trp203Cys)" "" ""
"0000882360" "00005380" "90" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.(Thr369Ser)" "" ""
"0000882361" "00005380" "50" "625" "0" "625" "0" "c.625T>C" "r.(?)" "p.(Ser209Pro)" "" ""
"0000882362" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" ""
"0000882363" "00005380" "70" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000882364" "00005380" "50" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Ala222Pro)" "" ""
"0000882365" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000882366" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882367" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882368" "00005380" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" ""
"0000882369" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882370" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882371" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882372" "00005380" "90" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "" ""
"0000882373" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882374" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882375" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882376" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882377" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882378" "00005380" "90" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "" ""
"0000882379" "00005380" "50" "670" "0" "670" "0" "c.670A>G" "r.(?)" "p.(Thr224Ala)" "" ""
"0000882380" "00005380" "70" "671" "0" "671" "0" "c.671C>G" "r.(?)" "p.(Thr224Arg)" "" ""
"0000882381" "00005380" "90" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.(Thr369Ser)" "" ""
"0000882382" "00005380" "70" "671" "0" "671" "0" "c.671C>G" "r.(?)" "p.(Thr224Arg)" "" ""
"0000882383" "00005380" "70" "1645" "0" "1645" "0" "c.1645G>T" "r.(?)" "p.(Glu549*)" "" ""
"0000882384" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" ""
"0000882385" "00005380" "70" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Glu344*)" "" ""
"0000882386" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" ""
"0000882387" "00005380" "70" "811" "0" "811" "0" "c.811C>A" "r.(?)" "p.(Pro271Thr)" "" ""
"0000882388" "00005380" "50" "704" "0" "704" "0" "c.704A>T" "r.(?)" "p.(Asp235Val)" "" ""
"0000882389" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882390" "00005380" "70" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Gln248*)" "" ""
"0000882391" "00005380" "70" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Pro372Leu)" "" ""
"0000882392" "00005380" "70" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" "" ""
"0000882393" "00005380" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000882394" "00005380" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000882395" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000882396" "00005380" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000882397" "00005380" "70" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Pro372Leu)" "" ""
"0000882398" "00005380" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000882399" "00005380" "70" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" ""
"0000882400" "00005380" "70" "778" "0" "778" "0" "c.778G>C" "r.(?)" "p.(Asp260His)" "" ""
"0000882401" "00005380" "50" "784" "0" "784" "0" "c.784G>C" "r.(?)" "p.(Ala262Pro)" "" ""
"0000882402" "00005380" "70" "1708" "0" "1708" "0" "c.1708A>G" "r.(?)" "p.(Ser570Gly)" "" ""
"0000882403" "00005380" "50" "784" "0" "784" "0" "c.784G>C" "r.(?)" "p.(Ala262Pro)" "" ""
"0000882404" "00005380" "70" "1736" "0" "1736" "0" "c.1736T>G" "r.(?)" "p.(Leu579Arg)" "" ""
"0000882405" "00005380" "90" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Gly267Asp)" "" ""
"0000882406" "00005380" "70" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Gln655*)" "" ""
"0000882407" "00005380" "70" "811" "0" "811" "0" "c.811C>G" "r.(?)" "p.(Pro271Ala)" "" ""
"0000882408" "00005380" "70" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ser359Phe)" "" ""
"0000882409" "00005380" "70" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "" ""
"0000882410" "00005380" "70" "829" "0" "829" "0" "c.829C>G" "r.(?)" "p.(Arg277Gly)" "" ""
"0000882411" "00005380" "90" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "" ""
"0000882412" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882413" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882414" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882415" "00005380" "90" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Ala469Thr)" "" ""
"0000882416" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882417" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882418" "00005380" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Cys191Tyr)" "" ""
"0000882419" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882420" "00005380" "90" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000882421" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882422" "00005380" "70" "1981" "0" "1981" "0" "c.1981C>A" "r.(?)" "p.(Arg661Ser)" "" ""
"0000882423" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882424" "00005380" "70" "1580" "0" "1580" "0" "c.1580T>G" "r.(?)" "p.(Leu527Arg)" "" ""
"0000882425" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882426" "00005380" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000882427" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882428" "00005380" "70" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Leu186Phe)" "" ""
"0000882429" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882430" "00005380" "50" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189Lys)" "" ""
"0000882431" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882432" "00005380" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221*)" "" ""
"0000882433" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882434" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000882435" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882436" "00005380" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Gln537*)" "" ""
"0000882437" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882438" "00005380" "90" "1718" "0" "1718" "0" "c.1718A>G" "r.(?)" "p.(Tyr573Cys)" "" ""
"0000882439" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882440" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000882441" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882442" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882443" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882444" "00005380" "90" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Arg563Cys)" "" ""
"0000882445" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882446" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000882447" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882448" "00005380" "70" "1466" "0" "1466" "0" "c.1466G>T" "r.(?)" "p.(Gly489Val)" "" ""
"0000882449" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882450" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000882451" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882452" "00005380" "70" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Gly513Arg)" "" ""
"0000882453" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882454" "00005380" "50" "1343" "0" "1343" "0" "c.1343A>G" "r.(?)" "p.(Lys448Arg)" "" ""
"0000882455" "00005380" "70" "1658" "0" "1658" "0" "c.1658T>A" "r.(?)" "p.(Leu553Gln)" "" ""
"0000882456" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882457" "00005380" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Val373Met)" "" ""
"0000882458" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882459" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000882460" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882461" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882462" "00005380" "50" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Phe249Ser)" "" ""
"0000882463" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882464" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000882465" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882466" "00005380" "70" "1129" "0" "1131" "0" "c.1129_1131del" "r.(?)" "p.(Glu377del)" "" ""
"0000882467" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882468" "00005380" "70" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Tyr357Cys)" "" ""
"0000882469" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882470" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882471" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882472" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000882473" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882474" "00005380" "90" "1320" "0" "1320" "0" "c.1320del" "r.(?)" "p.(Trp440Cysfs*25)" "" ""
"0000882475" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882476" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882477" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882478" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000882479" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882480" "00005380" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "" ""
"0000882481" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882482" "00005380" "50" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Phe249Ser)" "" ""
"0000882483" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882484" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Pro372Ser)" "" ""
"0000882485" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882486" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000882487" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882488" "00005380" "90" "674" "-1935" "3923" "0" "c.674-1935_*1838del" "r.(?)" "p.(Gly225Glufs*16)" "" ""
"0000882489" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882490" "00005380" "70" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" ""
"0000882491" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882492" "00005380" "90" "1538" "0" "1538" "0" "c.1538G>A" "r.(?)" "p.(Gly513Glu)" "" ""
"0000882493" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882494" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882495" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882496" "00005380" "90" "1139" "0" "1139" "0" "c.1139T>C" "r.(?)" "p.(Phe380Ser)" "" ""
"0000882497" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882498" "00005380" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000882499" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882500" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000882501" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882502" "00005380" "90" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Gly525Asp)" "" ""
"0000882503" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882504" "00005380" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Trp)" "" ""
"0000882505" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882506" "00005380" "70" "1519" "0" "1519" "0" "c.1519del" "r.(?)" "p.(Asp507Ilefs*47)" "" ""
"0000882507" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882508" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000882509" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882510" "00005380" "70" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499*)" "" ""
"0000882511" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882512" "00005380" "70" "1268" "0" "1268" "0" "c.1268A>C" "r.(?)" "p.(Tyr423Ser)" "" ""
"0000882513" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882514" "00005380" "90" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000882515" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882516" "00005380" "90" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "" ""
"0000882517" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000882518" "00005380" "90" "332" "0" "333" "0" "c.332_333delinsAA" "r.(?)" "p.(Ser111*)" "" ""
"0000882519" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882520" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882521" "00005380" "70" "450" "-1" "450" "-1" "c.450-1G>A" "r.spl" "p.?" "" ""
"0000882522" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882523" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000882524" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882525" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000882526" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882527" "00005380" "90" "1298" "0" "1298" "0" "c.1298T>G" "r.(?)" "p.(Leu433Trp)" "" ""
"0000882528" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882529" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882530" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882531" "00005380" "70" "1063" "0" "1063" "0" "c.1063A>G" "r.(?)" "p.(Ser355Gly)" "" ""
"0000882532" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882533" "00005380" "70" "1116" "0" "1116" "0" "c.1116del" "r.(?)" "p.(Val373*)" "" ""
"0000882534" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000882535" "00005380" "70" "906" "0" "906" "0" "c.906G>T" "r.(?)" "p.(Arg302Ser)" "" ""
"0000882536" "00005380" "70" "1319" "0" "1319" "0" "c.1319G>C" "r.(?)" "p.(Trp440Ser)" "" ""
"0000882537" "00005380" "90" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000882538" "00005380" "90" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "" ""
"0000882539" "00005380" "70" "1454" "0" "1454" "0" "c.1454A>T" "r.(?)" "p.(Asp485Val)" "" ""
"0000882540" "00005380" "90" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316*)" "" ""
"0000882541" "00005380" "90" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Ala318Thr)" "" ""
"0000882542" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882543" "00005380" "70" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000882544" "00005380" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" ""
"0000882545" "00005380" "70" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000882546" "00005380" "90" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Arg563Cys)" "" ""
"0000882547" "00005380" "70" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" ""
"0000882548" "00005380" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000882549" "00005380" "70" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Gly331Glu)" "" ""
"0000882550" "00005380" "70" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Gly331Glu)" "" ""
"0000882551" "00005380" "70" "1201" "0" "1201" "0" "c.1201T>C" "r.(?)" "p.(Ser401Pro)" "" ""
"0000885449" "00005380" "10" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Thr20Ile)" "" ""
"0000885450" "00005380" "90" "101" "1" "101" "1" "c.101+1G>A" "r.spl?" "p.?" "" ""
"0000885451" "00005380" "30" "396" "-4" "396" "-4" "c.396-4G>A" "r.spl?" "p.?" "" ""
"0000885452" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000905855" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000905856" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000905868" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000905869" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000905872" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000905873" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000920377" "00005380" "90" "101" "1" "101" "1" "c.101+1G>A" "r.52_101del" "p.Val18Serfs*6" "2i" ""
"0000920420" "00005380" "90" "101" "1" "101" "1" "c.101+1G>A" "r.(52_101del)" "p.(Val18Serfs*6)" "2i" ""
"0000920421" "00005380" "30" "211" "0" "211" "0" "c.211G>A" "r.211g>a" "p.Ala71Thr" "3" ""
"0000920422" "00005380" "30" "211" "0" "211" "0" "c.211G>A" "r.(211g>a)" "p.(Ala71Thr)" "3" "N-Term"
"0000920423" "00005380" "10" "215" "11" "215" "11" "c.215+11A>G" "r.215+216=" "p.Arg72=" "3i" ""
"0000920424" "00005380" "10" "215" "11" "215" "11" "c.215+11A>G" "r.(215_216=)" "p.(Arg72=)" "3i" ""
"0000920425" "00005380" "90" "395" "1" "395" "1" "c.395+1G>T" "r.[216_395del,216_449del,355_395del,258_395del,246_395del,395_396ins[u;395+2_395+488]]" "p.[Arg72_Arg131del,Leu73_Glu150del,Ala119Argfs*10,Arg86_Arg131del,Arg82_Arg131del,Ala133*]" "4i" ""
"0000920426" "00005380" "90" "395" "1" "395" "1" "c.395+1G>T" "r.spl" "p.[(Arg72_Arg131del,Leu73_Glu150del,Ala119Argfs*10,Arg86_Arg131del,Arg82_Arg131del,Ala133*)]" "4i" ""
"0000920427" "00005380" "10" "395" "9" "395" "9" "c.395+9C>T" "r.395_396=" "p.Ser132=" "4i" ""
"0000920428" "00005380" "50" "395" "9" "395" "9" "c.395+9C>T" "r.(395_396=)" "p.(Ser132=)" "4i" ""
"0000920429" "00005380" "90" "396" "-11" "396" "-11" "c.396-11C>G" "r.[396_449del,395_396ins396-10_396-1]" "p.[Ser132_Glu150delinsArg,Ala133Phefs*13]" "4i" ""
"0000920430" "00005380" "70" "396" "-11" "396" "-11" "c.396-11C>G" "r.[(396_449del,395_396ins396-10_396-1)]" "p.[(Ser132_Glu150delinsArg,Ala133Phefs*13)]" "4i" ""
"0000920431" "00005380" "10" "396" "-4" "396" "-4" "c.396-4G>A" "r.395_396=" "p.(Ser132=)" "4i" ""
"0000920432" "00005380" "10" "396" "-4" "396" "-4" "c.396-4G>A" "r.(395_396=)" "p.Ser132=" "4i" ""
"0000920433" "00005380" "90" "396" "-2" "398" "0" "c.396-2_398dup" "r.395_396ins396-2_398" "p.Trp134Profs*41" "4i_5" ""
"0000920434" "00005380" "90" "396" "-2" "398" "0" "c.396-2_398dup" "r.(395_396ins396-2_398)" "p.(Trp134Profs*41)" "4i_5" ""
"0000920437" "00005380" "10" "449" "13" "449" "13" "c.449+13A>G" "r.449_450=" "p.Glu150=" "4i_5" ""
"0000920438" "00005380" "30" "449" "13" "449" "13" "c.449+13A>G" "r.(449_450=)" "p.(Glu150=)" "4i_5" ""
"0000920439" "00005380" "90" "450" "-15" "450" "-15" "c.450-15T>G" "r.[449_450ins450-14_450-1,449_450ins[450-49_450-16;u;450-14_450-1],450_566del,=]" "p.[Lys151Cysfs*27,Glu150Aspfs*49,Lys151_Arg189del,=]" "5i" ""
"0000920440" "00005380" "70" "450" "-15" "450" "-15" "c.450-15T>G" "r.[(449_450ins450-14_450-1,449_450ins[450-49_450-16;u;450-14_450-1],450_566del,=)]" "p.[(Lys151Cysfs*27,Glu150Aspfs*49,Lys151_Arg189del,=)]" "5i" ""
"0000920441" "00005380" "90" "450" "-1" "450" "-1" "c.450-1G>A" "r.[449_450ins[450-154_450-2;a],449_450ins[450-70_450-2;a],449_450ins[450-49_450-2;a],450_566del]" "p.[Lys151Aspfs*24,Lys151Leufs*55,Glu150Aspfs*49,Lys151_Arg189del]" "5i" ""
"0000920442" "00005380" "90" "450" "-1" "450" "-1" "c.450-1G>A" "r.[(449_450ins[450-154_450-2;a],449_450ins[450-70_450-2;a],449_450ins[450-49_450-2;a],450_566del)]" "p.[(Lys151Aspfs*24,Lys151Leufs*55,Glu150Aspfs*49,Lys151_Arg189del)]" "5i" ""
"0000920443" "00005380" "90" "566" "0" "566" "0" "c.566G>A" "r.[=,549_566del]" "p.[Arg189Lys,Tyr184_Arg189del]" "6" ""
"0000920444" "00005380" "70" "566" "0" "566" "0" "c.566G>A" "r.[(=,549_566del)]" "p.[(Arg189Lys,Tyr184_Arg189del)]" "6" "TM1 - TM2"
"0000920445" "00005380" "10" "566" "6" "566" "6" "c.566+6C>T" "r.566_567=" "p.Arg189=" "6i" ""
"0000920446" "00005380" "30" "566" "6" "566" "6" "c.566+6C>T" "r.(566_567=)" "p.(Arg189=)" "6i" ""
"0000920447" "00005380" "10" "566" "14" "566" "14" "c.566+14G>A" "r.566_567=" "p.Arg189=" "6i" ""
"0000920448" "00005380" "30" "566" "14" "566" "14" "c.566+14G>A" "r.(566_567=)" "p.(Arg189=)" "6i" ""
"0000920449" "00005380" "90" "567" "-11" "567" "-11" "c.567-11G>A" "r.566_567ins566-9_566-1" "p.Cys188_Arg189insSerPhePhe" "6i" ""
"0000920450" "00005380" "70" "567" "-11" "567" "-11" "c.567-11G>A" "r.(566_567ins566-9_566-1)" "p.(Cys188_Arg189insSerPhePhe)" "6i" ""
"0000920451" "00005380" "90" "670" "0" "670" "0" "c.670A>G" "r.670a>g" "p.Thr224Ala" "7" ""
"0000920452" "00005380" "70" "670" "0" "670" "0" "c.670A>G" "r.(670a>g)" "p.(Thr224Ala)" "7" "TM2 - TM3"
"0000920453" "00005380" "90" "671" "0" "671" "0" "c.671C>G" "r.671c>g" "p.Thr224Arg" "7" ""
"0000920454" "00005380" "90" "671" "0" "671" "0" "c.671C>G" "r.(671c>g)" "p.(Thr224Arg)" "7" ""
"0000920455" "00005380" "70" "671" "0" "671" "0" "c.671C>T" "r.671c>u" "p.Thr224Ala" "7" ""
"0000920456" "00005380" "70" "671" "0" "671" "0" "c.671C>T" "r.(671c>u)" "p.(Thr224Ala)" "7" "TM2 - TM3"
"0000920457" "00005380" "70" "673" "5" "673" "5" "c.673+5G>T" "r.[=,567_673del]" "p.[=,Ala190Phefs*10]" "7i" ""
"0000920458" "00005380" "50" "673" "5" "673" "5" "c.673+5G>T" "r.[(=,567_673del)]" "p.[(=,Ala190Phefs*10)]" "7i" ""
"0000920459" "00005380" "90" "674" "-2" "674" "-2" "c.674-2A>C" "r.[674_688del,674_684del,=]" "p.[Phe226_Gly230del,Gly225_Leu227del,=]" "7i" ""
"0000920460" "00005380" "90" "674" "-2" "674" "-2" "c.674-2A>C" "r.[(674_688del,674_684del,=)]" "p.[(Phe226_Gly230del,Gly225_Leu227del,=)]" "7i" ""
"0000928670" "00005380" "50" "1114" "0" "1114" "0" "c.1114C>G" "r.(?)" "p.(Pro372Ala)" "" ""
"0000933600" "00005380" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "" ""
"0000933601" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000954013" "00005380" "70" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" ""
"0000954080" "00005380" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000954081" "00005380" "70" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Leu185Val)" "" ""
"0000957971" "00005380" "90" "489" "0" "492" "0" "c.489_492del" "r.(?)" "p.(Ser164AlafsTer8)" "" ""
"0000957975" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0000957976" "00005380" "70" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "" ""
"0000957982" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000957983" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000957984" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000957985" "00005380" "90" "1749" "0" "1749" "0" "c.1749del" "r.(?)" "p.(Leu584SerfsTer23)" "" ""
"0000957986" "00005380" "90" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "" ""
"0000958113" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0000958388" "00005380" "90" "778" "0" "778" "0" "c.778dup" "r.(?)" "p.(Asp260GlyfsTer27)" "" ""
"0000958391" "00005380" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" ""
"0000958394" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0000958397" "00005380" "90" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "" ""
"0000958399" "00005380" "90" "1360" "0" "1360" "0" "c.1360A>T" "r.(?)" "p.(Lys454Ter)" "" ""
"0000958403" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" ""
"0000958404" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" ""
"0000958405" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000958826" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000959037" "00005380" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" ""
"0000959261" "00005380" "50" "479" "0" "479" "0" "c.479T>G" "r.(?)" "p.(Val160Gly)" "" ""
"0000959312" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000962359" "00005380" "90" "1443" "0" "1443" "0" "c.1443dup" "r.(?)" "p.(Ile482Hisfs*6)" "" ""
"0000962360" "00005380" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Val529Met)" "" ""
"0000962361" "00005380" "90" "1645" "0" "1645" "0" "c.1645G>T" "r.(?)" "p.(Glu549*)" "" ""
"0000962362" "00005380" "50" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Arg603Trp)" "" ""
"0000971697" "00005380" "30" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23Gln)" "" "N-Term"
"0000971698" "00005380" "30" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27His)" "" "N-Term"
"0000971699" "00005380" "30" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Ser37Leu)" "" "N-Term"
"0000971700" "00005380" "30" "154" "0" "154" "0" "c.154A>G" "r.(?)" "p.(Met52Val)" "" "N-Term"
"0000971701" "00005380" "30" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "" "N-Term"
"0000971702" "00005380" "70" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Glu106Lys)" "" "N-Term"
"0000971703" "00005380" "10" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Gln118Arg)" "" "N-Term"
"0000971704" "00005380" "30" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Asn120Asp)" "" "N-Term"
"0000971705" "00005380" "30" "440" "0" "440" "0" "c.440C>G" "r.(?)" "p.(Thr147Arg)" "" "N-Term"
"0000971706" "00005380" "30" "471" "0" "471" "0" "c.471T>G" "r.(?)" "p.(Asp157Glu)" "" "N-Term"
"0000971707" "00005380" "30" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ala158Val)" "" "N-Term"
"0000971708" "00005380" "70" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Val160Met)" "" "N-Term"
"0000971709" "00005380" "70" "479" "0" "479" "0" "c.479T>G" "r.(?)" "p.(Val160Gly)" "" "N-Term"
"0000971710" "00005380" "70" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Trp171Cys)" "" "TM1"
"0000971711" "00005380" "70" "536" "0" "536" "0" "c.536T>A" "r.(?)" "p.(Val179Asp)" "" "TM1"
"0000971712" "00005380" "90" "544" "0" "544" "0" "c.544A>G" "r.(?)" "p.(Asn182Asp)" "" "TM1"
"0000971713" "00005380" "30" "553" "0" "553" "0" "c.553C>G" "r.(?)" "p.(Leu185Val)" "" "TM1"
"0000971714" "00005380" "90" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Ile187Thr)" "" "TM1 - TM2"
"0000971715" "00005380" "70" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Leu195Pro)" "" "TM1 - TM2"
"0000971716" "00005380" "70" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(Gln196Arg)" "" "TM1 - TM2"
"0000971717" "00005380" "90" "589" "0" "589" "0" "c.589T>C" "r.(?)" "p.(Ser197Pro)" "" "TM2"
"0000971718" "00005380" "70" "609" "0" "609" "0" "c.609G>T" "r.(?)" "p.(Trp203Cys)" "" "TM2"
"0000971719" "00005380" "70" "625" "0" "625" "0" "c.625T>C" "r.(?)" "p.(Ser209Pro)" "" "TM2"
"0000971720" "00005380" "70" "633" "0" "633" "0" "c.633T>A" "r.(?)" "p.(Asp211Glu)" "" "TM2"
"0000971721" "00005380" "70" "649" "0" "649" "0" "c.649G>C" "r.(?)" "p.(Asp217His)" "" "TM2"
"0000971722" "00005380" "70" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Ala222Pro)" "" "TM2"
"0000971723" "00005380" "90" "667" "0" "667" "0" "c.667C>G" "r.(?)" "p.(Arg223Gly)" "" "TM2"
"0000971724" "00005380" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "TM2"
"0000971725" "00005380" "70" "704" "0" "704" "0" "c.704A>T" "r.(?)" "p.(Asp235Val)" "" "TM2 - TM3"
"0000971726" "00005380" "30" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "TM2 - TM3"
"0000971727" "00005380" "10" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Thr247Met)" "" "TM3"
"0000971728" "00005380" "70" "743" "0" "743" "0" "c.743A>G" "r.(?)" "p.(Gln248Arg)" "" "TM3"
"0000971729" "00005380" "70" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Phe249Ser)" "" "TM3"
"0000971730" "00005380" "70" "755" "0" "755" "0" "c.755A>C" "r.(?)" "p.(Asp252Ala)" "" "TM3"
"0000971731" "00005380" "70" "772" "0" "772" "0" "c.772C>G" "r.(?)" "p.(Pro258Ala)" "" "TM3"
"0000971732" "00005380" "70" "773" "0" "773" "0" "c.773C>G" "r.(?)" "p.(Pro258Arg)" "" "TM3"
"0000971733" "00005380" "90" "778" "0" "778" "0" "c.778G>C" "r.(?)" "p.(Asp260His)" "" "TM3"
"0000971734" "00005380" "70" "784" "0" "784" "0" "c.784G>C" "r.(?)" "p.(Ala262Pro)" "" "TM3"
"0000971735" "00005380" "90" "787" "0" "787" "0" "c.787T>G" "r.(?)" "p.(Tyr263Asp)" "" "TM3"
"0000971736" "00005380" "30" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Val266Met)" "" "TM3 - TM4"
"0000971737" "00005380" "90" "811" "0" "811" "0" "c.811C>G" "r.(?)" "p.(Pro271Ala)" "" "TM3 - TM4"
"0000971738" "00005380" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Pro271Ser)" "" "TM3 - TM4"
"0000971739" "00005380" "90" "811" "0" "811" "0" "c.811C>A" "r.(?)" "p.(Pro271Thr)" "" "TM3 - TM4"
"0000971740" "00005380" "90" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Lys)" "" "TM4"
"0000971741" "00005380" "90" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Arg274Ser)" "" "TM4"
"0000971742" "00005380" "90" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Asn276Ser)" "" "TM4"
"0000971743" "00005380" "90" "829" "0" "829" "0" "c.829C>G" "r.(?)" "p.(Arg277Gly)" "" "TM4"
"0000971744" "00005380" "90" "833" "0" "833" "0" "c.833T>C" "r.(?)" "p.(Leu278Pro)" "" "TM4"
"0000971745" "00005380" "90" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Arg302Gly)" "" "TM5"
"0000971746" "00005380" "90" "906" "0" "906" "0" "c.906G>T" "r.(?)" "p.(Arg302Ser)" "" "TM5"
"0000971747" "00005380" "90" "907" "0" "907" "0" "c.907A>T" "r.(?)" "p.(Ile303Phe)" "" "TM5"
"0000971748" "00005380" "90" "945" "0" "945" "0" "c.945C>G" "r.(?)" "p.(His315Gln)" "" "TM5"
"0000971749" "00005380" "90" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Ala318Thr)" "" "TM5"
"0000971750" "00005380" "90" "965" "0" "965" "0" "c.965T>C" "r.(?)" "p.(Phe322Ser)" "" "TM5"
"0000971751" "00005380" "90" "967" "0" "967" "0" "c.967G>C" "r.(?)" "p.(Ala323Pro)" "" "TM5"
"0000971752" "00005380" "90" "968" "0" "968" "0" "c.968C>A" "r.(?)" "p.(Ala323Asp)" "" "TM5"
"0000971753" "00005380" "90" "983" "0" "983" "0" "c.983T>C" "r.(?)" "p.(Ile328Thr)" "" "TM5"
"0000971754" "00005380" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Cys)" "" "TM5 - pore helix"
"0000971755" "00005380" "90" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Phe330Ser)" "" "TM5 - pore helix"
"0000971756" "00005380" "90" "991" "0" "991" "0" "c.991G>C" "r.(?)" "p.(Gly331Arg)" "" "TM5 - pore helix"
"0000971757" "00005380" "90" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Gly331Glu)" "" "TM5 - pore helix"
"0000971758" "00005380" "90" "1001" "0" "1001" "0" "c.1001C>T" "r.(?)" "p.(Ser334Phe)" "" "TM5 - pore helix"
"0000971759" "00005380" "70" "1005" "0" "1005" "0" "c.1005G>T" "r.(?)" "p.(Trp335Cys)" "" "TM5 - pore helix"
"0000971760" "00005380" "90" "1006" "0" "1006" "0" "c.1006G>T" "r.(?)" "p.(Val336Phe)" "" "TM5 - pore helix"
"0000971761" "00005380" "90" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(His345Arg)" "" "TM5 - pore helix"
"0000971762" "00005380" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Cys)" "" "TM5 - pore helix"
"0000971763" "00005380" "70" "1048" "0" "1048" "0" "c.1048A>G" "r.(?)" "p.(Arg350Gly)" "" "TM5 - pore helix"
"0000971764" "00005380" "90" "1058" "0" "1058" "0" "c.1058T>C" "r.(?)" "p.(Ile353Thr)" "" "Pore helix"
"0000971765" "00005380" "90" "1061" "0" "1061" "0" "c.1061A>G" "r.(?)" "p.(Tyr354Cys)" "" "Pore helix"
"0000971766" "00005380" "90" "1063" "0" "1063" "0" "c.1063A>G" "r.(?)" "p.(Ser355Gly)" "" "Pore helix"
"0000971767" "00005380" "90" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Tyr357Cys)" "" "Pore helix"
"0000971768" "00005380" "90" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ser359Phe)" "" "Pore helix"
"0000971769" "00005380" "90" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Thr362Ile)" "" "Pore helix"
"0000971770" "00005380" "90" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Glu368Gly)" "" "pore helix -TM6"
"0000971771" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>G" "r.(?)" "p.(Pro372Ala)" "" "pore helix -TM6"
"0000971772" "00005380" "90" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Pro372Leu)" "" "pore helix -TM6"
"0000971773" "00005380" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Val373Met)" "" "pore helix -TM6"
"0000971774" "00005380" "90" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Asp375Gly)" "" "TM6"
"0000971775" "00005380" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Gly388Ser)" "" "TM6"
"0000971776" "00005380" "90" "1163" "0" "1163" "0" "c.1163G>A" "r.(?)" "p.(Gly388Asp)" "" "TM6"
"0000971777" "00005380" "90" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Gly388Val)" "" "TM6"
"0000971778" "00005380" "90" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "" "TM6"
"0000971779" "00005380" "90" "1201" "0" "1201" "0" "c.1201T>C" "r.(?)" "p.(Ser401Pro)" "" "TM6"
"0000971780" "00005380" "90" "1243" "0" "1243" "0" "c.1243G>C" "r.(?)" "p.(Ala415Pro)" "" "C-linker αA"
"0000971781" "00005380" "90" "1254" "0" "1254" "0" "c.1254T>G" "r.(?)" "p.(Asp418Glu)" "" "C-linker αA"
"0000971782" "00005380" "90" "1255" "0" "1255" "0" "c.1255T>C" "r.(?)" "p.(Ser419Pro)" "" "C-linker αA"
"0000971783" "00005380" "90" "1256" "0" "1256" "0" "c.1256C>T" "r.(?)" "p.(Ser419Phe)" "" "C-linker αA"
"0000971784" "00005380" "90" "1268" "0" "1268" "0" "c.1268A>C" "r.(?)" "p.(Tyr423Ser)" "" "C-linker αA"
"0000971785" "00005380" "90" "1271" "0" "1271" "0" "c.1271T>C" "r.(?)" "p.(Met424Thr)" "" "C-linker αA"
"0000971786" "00005380" "90" "1280" "0" "1280" "0" "c.1280G>T" "r.(?)" "p.(Arg427Leu)" "" "C-linker αA - αB"
"0000971787" "00005380" "90" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Val429Ala)" "" "C-linker αA - αB"
"0000971788" "00005380" "90" "1294" "0" "1294" "0" "c.1294G>T" "r.(?)" "p.(Asp432Tyr)" "" "C-linker αB"
"0000971789" "00005380" "50" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Arg436Gln)" "" "C-linker αB"
"0000971790" "00005380" "90" "1319" "0" "1319" "0" "c.1319G>C" "r.(?)" "p.(Trp440Ser)" "" "C-linker αB"
"0000971791" "00005380" "70" "1343" "0" "1343" "0" "c.1343A>G" "r.(?)" "p.(Lys448Arg)" "" "C-linker αB - αC"
"0000971792" "00005380" "90" "1391" "0" "1391" "0" "c.1391T>G" "r.(?)" "p.(Leu464Arg)" "" "C-linker αD"
"0000971793" "00005380" "70" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Asn471Ser)" "" "C-linker αD"
"0000971794" "00005380" "70" "1435" "0" "1436" "0" "c.1435_1436delinsGT" "r.(?)" "p.(Lys479Val)" "" "C-linker αE"
"0000971795" "00005380" "90" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Cys486Tyr)" "" "C-linker αF - CNBD αA"
"0000971796" "00005380" "90" "1466" "0" "1466" "0" "c.1466G>T" "r.(?)" "p.(Gly489Val)" "" "CNBD αA"
"0000971797" "00005380" "90" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Pro505Ala)" "" "CNBD β1 - β2"
"0000971798" "00005380" "90" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Asp507Gly)" "" "CNBD β1 - β2"
"0000971799" "00005380" "90" "1535" "0" "1535" "0" "c.1535A>T" "r.(?)" "p.(Lys512Met)" "" "CNBD β2 - β3"
"0000971800" "00005380" "90" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Gly513Arg)" "" "CNBD β2 - β3"
"0000971801" "00005380" "90" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Asp514Asn)" "" "CNBD β2 - β3"
"0000971802" "00005380" "90" "1541" "0" "1541" "0" "c.1541A>T" "r.(?)" "p.(Asp514Val)" "" "CNBD β2 - β3"
"0000971803" "00005380" "90" "1556" "0" "1556" "0" "c.1556T>C" "r.(?)" "p.(Met519Thr)" "" "CNBD β3"
"0000971804" "00005380" "90" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Met519Ile)" "" "CNBD β3"
"0000971805" "00005380" "90" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Gly525Ser)" "" "CNBD β3 - β4"
"0000971806" "00005380" "90" "1579" "0" "1579" "0" "c.1579C>A" "r.(?)" "p.(Leu527Met)" "" "CNBD β4"
"0000971807" "00005380" "90" "1580" "0" "1580" "0" "c.1580T>G" "r.(?)" "p.(Leu527Arg)" "" "CNBD β4"
"0000971808" "00005380" "90" "1597" "0" "1597" "0" "c.1597G>C" "r.(?)" "p.(Asp533His)" "" "CNBD β4 - β5"
"0000971809" "00005380" "30" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Val539Met)" "" "CNBD β5"
"0000971810" "00005380" "10" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "" "CNBD β5"
"0000971811" "00005380" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Leu541Phe)" "" "CNBD β5"
"0000971812" "00005380" "90" "1640" "0" "1640" "0" "c.1640T>G" "r.(?)" "p.(Phe547Cys)" "" "CNBD β6"
"0000971813" "00005380" "90" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" "CNBD β6"
"0000971814" "00005380" "90" "1658" "0" "1658" "0" "c.1658T>A" "r.(?)" "p.(Leu553Gln)" "" "CNBD β6 - β7"
"0000971815" "00005380" "90" "1679" "0" "1679" "0" "c.1679C>T" "r.(?)" "p.(Ser560Leu)" "" "CNBD β6 - β7"
"0000971816" "00005380" "90" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Gly561Glu)" "" "CNBD β6 - β7"
"0000971817" "00005380" "90" "1686" "0" "1686" "0" "c.1686C>A" "r.(?)" "p.(Asn562Lys)" "" "CNBD β6 - β7"
"0000971818" "00005380" "90" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569Cys)" "" "CNBD β7"
"0000971819" "00005380" "90" "1708" "0" "1708" "0" "c.1708A>G" "r.(?)" "p.(Ser570Gly)" "" "CNBD β7"
"0000971820" "00005380" "90" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Ser570Asn)" "" "CNBD β7"
"0000971821" "00005380" "90" "1709" "0" "1709" "0" "c.1709G>T" "r.(?)" "p.(Ser570Ile)" "" "CNBD β7"
"0000971822" "00005380" "90" "1712" "0" "1712" "0" "c.1712T>C" "r.(?)" "p.(Ile571Thr)" "" "CNBD β7 - β8"
"0000971823" "00005380" "90" "1717" "0" "1717" "0" "c.1717T>C" "r.(?)" "p.(Tyr573His)" "" "CNBD β7 - β8"
"0000971824" "00005380" "90" "1736" "0" "1736" "0" "c.1736T>G" "r.(?)" "p.(Leu579Arg)" "" "CNBD β8"
"0000971825" "00005380" "90" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Tyr591His)" "" "CNBD αB - αC"
"0000971826" "00005380" "90" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Pro592Leu)" "" "CNBD αB - αC"
"0000971827" "00005380" "50" "1784" "0" "1784" "0" "c.1784A>G" "r.(?)" "p.(Lys595Arg)" "" "CNBD αC"
"0000971828" "00005380" "70" "1793" "0" "1793" "0" "c.1793T>G" "r.(?)" "p.(Leu598Arg)" "" "CNBD αC"
"0000971829" "00005380" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Gly602Glu)" "" "CNBD αC"
"0000971830" "00005380" "30" "1845" "0" "1845" "0" "c.1845G>T" "r.(?)" "p.(Glu615Asp)" "" "CNBD αC - CLZ"
"0000971831" "00005380" "30" "1856" "0" "1856" "0" "c.1856C>T" "r.(?)" "p.(Ala619Val)" "" "CNBD αC - CLZ"
"0000971832" "00005380" "70" "1862" "0" "1862" "0" "c.1862C>A" "r.(?)" "p.(Ala621Glu)" "" "CNBD αC - CLZ"
"0000971833" "00005380" "70" "1877" "0" "1877" "0" "c.1877T>G" "r.(?)" "p.(Leu626Arg)" "" "CLZ"
"0000971834" "00005380" "70" "1889" "0" "1889" "0" "c.1889T>C" "r.(?)" "p.(Val630Ala)" "" "CLZ"
"0000971835" "00005380" "70" "1931" "0" "1931" "0" "c.1931T>C" "r.(?)" "p.(Phe644Ser)" "" "CLZ"
"0000971836" "00005380" "50" "1937" "0" "1937" "0" "c.1937G>A" "r.(?)" "p.(Arg646His)" "" "CLZ"
"0000971837" "00005380" "70" "1949" "0" "1949" "0" "c.1949A>C" "r.(?)" "p.(Glu650Ala)" "" "CLZ"
"0000971838" "00005380" "30" "1968" "0" "1968" "0" "c.1968G>A" "r.(?)" "p.(Met656Ile)" "" "CLZ"
"0000971839" "00005380" "90" "1981" "0" "1981" "0" "c.1981C>A" "r.(?)" "p.(Arg661Ser)" "" "CLZ"
"0000971840" "00005380" "90" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661His)" "" "CLZ"
"0000971841" "00005380" "50" "2005" "0" "2005" "0" "c.2005G>C" "r.(?)" "p.(Val669Leu)" "" "CLZ"
"0000971842" "00005380" "30" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Gly684Arg)" "" "C-Term"
"0000971843" "00005380" "10" "68" "0" "68" "0" "c.68G>A" "-" "p.Arg23Gln" "" "N-Term"
"0000971844" "00005380" "10" "80" "0" "80" "0" "c.80G>A" "-" "p.Arg27His" "" "N-Term"
"0000971845" "00005380" "10" "110" "0" "110" "0" "c.110C>T" "-" "p.Ser37Leu" "" "N-Term"
"0000971846" "00005380" "10" "154" "0" "154" "0" "c.154A>G" "-" "p.Met52Val" "" "N-Term"
"0000971847" "00005380" "10" "211" "0" "211" "0" "c.211G>A" "-" "p.Ala71Thr" "" "N-Term"
"0000971848" "00005380" "10" "284" "0" "284" "0" "c.284C>T" "-" "p.Pro95Leu" "" "N-Term"
"0000971849" "00005380" "90" "316" "0" "316" "0" "c.316G>A" "-" "p.Glu106Lys" "" "N-Term"
"0000971850" "00005380" "10" "353" "0" "353" "0" "c.353A>G" "-" "p.Gln118Arg" "" "N-Term"
"0000971851" "00005380" "10" "358" "0" "358" "0" "c.358A>G" "-" "p.Asn120Asp" "" "N-Term"
"0000971852" "00005380" "10" "440" "0" "440" "0" "c.440C>G" "-" "p.Thr147Arg" "" "N-Term"
"0000971853" "00005380" "10" "471" "0" "471" "0" "c.471T>G" "-" "p.Asp157Glu" "" "N-Term"
"0000971854" "00005380" "10" "473" "0" "473" "0" "c.473C>T" "-" "p.Ala158Val" "" "N-Term"
"0000971855" "00005380" "90" "478" "0" "478" "0" "c.478G>A" "-" "p.Val160Met" "" "N-Term"
"0000971856" "00005380" "90" "479" "0" "479" "0" "c.479T>G" "-" "p.Val160Gly" "" "N-Term"
"0000971857" "00005380" "90" "513" "0" "513" "0" "c.513G>T" "-" "p.Trp171Cys" "" "TM1"
"0000971858" "00005380" "90" "536" "0" "536" "0" "c.536T>A" "-" "p.Val179Asp" "" "TM1"
"0000971859" "00005380" "90" "544" "0" "544" "0" "c.544A>G" "-" "p.Asn182Asp" "" "TM1"
"0000971860" "00005380" "10" "553" "0" "553" "0" "c.553C>G" "-" "p.Leu185Val" "" "TM1"
"0000971861" "00005380" "90" "560" "0" "560" "0" "c.560T>C" "-" "p.Ile187Thr" "" "TM1 - TM2"
"0000971862" "00005380" "90" "566" "0" "566" "0" "c.566G>A" "-" "p.Arg189Lys" "" "TM1 - TM2"
"0000971863" "00005380" "90" "584" "0" "584" "0" "c.584T>C" "-" "p.Leu195Pro" "" "TM1 - TM2"
"0000971864" "00005380" "90" "587" "0" "587" "0" "c.587A>G" "-" "p.Gln196Arg" "" "TM1 - TM2"
"0000971865" "00005380" "90" "589" "0" "589" "0" "c.589T>C" "-" "p.Ser197Pro" "" "TM2"
"0000971866" "00005380" "90" "609" "0" "609" "0" "c.609G>T" "-" "p.Trp203Cys" "" "TM2"
"0000971867" "00005380" "90" "625" "0" "625" "0" "c.625T>C" "-" "p.Ser209Pro" "" "TM2"
"0000971868" "00005380" "90" "633" "0" "633" "0" "c.633T>A" "-" "p.Asp211Glu" "" "TM2"
"0000971869" "00005380" "90" "649" "0" "649" "0" "c.649G>C" "-" "p.Asp217His" "" "TM2"
"0000971870" "00005380" "90" "664" "0" "664" "0" "c.664G>C" "-" "p.Ala222Pro" "" "TM2"
"0000971871" "00005380" "90" "667" "0" "667" "0" "c.667C>G" "-" "p.Arg223Gly" "" "TM2"
"0000971872" "00005380" "90" "668" "0" "668" "0" "c.668G>A" "-" "p.Arg223Gln" "" "TM2"
"0000971873" "00005380" "90" "670" "0" "670" "0" "c.670A>G" "-" "p.Thr224Ala" "" "TM2 - TM3"
"0000971874" "00005380" "90" "671" "0" "671" "0" "c.671C>T" "-" "p.Thr224Ile" "" "TM2 - TM3"
"0000971875" "00005380" "90" "704" "0" "704" "0" "c.704A>T" "-" "p.Asp235Val" "" "TM2 - TM3"
"0000971876" "00005380" "10" "734" "0" "734" "0" "c.734C>T" "-" "p.Thr245Met" "" "TM2 - TM3"
"0000971877" "00005380" "10" "740" "0" "740" "0" "c.740C>T" "-" "p.Thr247Met" "" "TM3"
"0000971878" "00005380" "90" "743" "0" "743" "0" "c.743A>G" "-" "p.Gln248Arg" "" "TM3"
"0000971879" "00005380" "90" "746" "0" "746" "0" "c.746T>C" "-" "p.Phe249Ser" "" "TM3"
"0000971880" "00005380" "90" "755" "0" "755" "0" "c.755A>C" "-" "p.Asp252Ala" "" "TM3"
"0000971881" "00005380" "90" "772" "0" "772" "0" "c.772C>G" "-" "p.Pro258Ala" "" "TM3"
"0000971882" "00005380" "90" "773" "0" "773" "0" "c.773C>G" "-" "p.Pro258Arg" "" "TM3"
"0000971883" "00005380" "90" "778" "0" "778" "0" "c.778G>C" "-" "p.Asp260His" "" "TM3"
"0000971884" "00005380" "90" "784" "0" "784" "0" "c.784G>C" "-" "p.Ala262Pro" "" "TM3"
"0000971885" "00005380" "90" "787" "0" "787" "0" "c.787T>G" "-" "p.Tyr263Asp" "" "TM3"
"0000971886" "00005380" "10" "796" "0" "796" "0" "c.796G>A" "-" "p.Val266Met" "" "TM3 - TM4"
"0000971887" "00005380" "90" "811" "0" "811" "0" "c.811C>G" "-" "p.Pro271Ala" "" "TM3 - TM4"
"0000971888" "00005380" "90" "811" "0" "811" "0" "c.811C>T" "-" "p.Pro271Ser" "" "TM3 - TM4"
"0000971889" "00005380" "90" "811" "0" "811" "0" "c.811C>A" "-" "p.Pro271Thr" "" "TM3 - TM4"
"0000971890" "00005380" "90" "821" "0" "821" "0" "c.821G>A" "-" "p.Arg274Lys" "" "TM4"
"0000971891" "00005380" "90" "822" "0" "822" "0" "c.822G>T" "-" "p.Arg274Ser" "" "TM4"
"0000971892" "00005380" "90" "827" "0" "827" "0" "c.827A>G" "-" "p.Asn276Ser" "" "TM4"
"0000971893" "00005380" "90" "829" "0" "829" "0" "c.829C>G" "-" "p.Arg277Gly" "" "TM4"
"0000971894" "00005380" "90" "833" "0" "833" "0" "c.833T>C" "-" "p.Leu278Pro" "" "TM4"
"0000971895" "00005380" "90" "904" "0" "904" "0" "c.904A>G" "-" "p.Arg302Gly" "" "TM5"
"0000971896" "00005380" "90" "906" "0" "906" "0" "c.906G>T" "-" "p.Arg302Ser" "" "TM5"
"0000971897" "00005380" "90" "907" "0" "907" "0" "c.907A>T" "-" "p.Ile303Phe" "" "TM5"
"0000971898" "00005380" "90" "945" "0" "945" "0" "c.945C>G" "-" "p.His315Gln" "" "TM5"
"0000971899" "00005380" "90" "952" "0" "952" "0" "c.952G>A" "-" "p.Ala318Thr" "" "TM5"
"0000971900" "00005380" "90" "965" "0" "965" "0" "c.965T>C" "-" "p.Phe322Ser" "" "TM5"
"0000971901" "00005380" "90" "967" "0" "967" "0" "c.967G>C" "-" "p.Ala323Pro" "" "TM5"
"0000971902" "00005380" "90" "968" "0" "968" "0" "c.968C>A" "-" "p.Ala323Asp" "" "TM5"
"0000971903" "00005380" "90" "983" "0" "983" "0" "c.983T>C" "-" "p.Ile328Thr" "" "TM5"
"0000971904" "00005380" "90" "985" "0" "985" "0" "c.985G>T" "-" "p.Gly329Cys" "" "TM5 - pore helix"
"0000971905" "00005380" "90" "989" "0" "989" "0" "c.989T>C" "-" "p.Phe330Ser" "" "TM5 - pore helix"
"0000971906" "00005380" "90" "991" "0" "991" "0" "c.991G>C" "-" "p.Gly331Arg" "" "TM5 - pore helix"
"0000971907" "00005380" "90" "992" "0" "992" "0" "c.992G>A" "-" "p.Gly331Glu" "" "TM5 - pore helix"
"0000971908" "00005380" "90" "1001" "0" "1001" "0" "c.1001C>T" "-" "p.Ser334Phe" "" "TM5 - pore helix"
"0000971909" "00005380" "90" "1005" "0" "1005" "0" "c.1005G>T" "-" "p.Trp335Cys" "" "TM5 - pore helix"
"0000971910" "00005380" "90" "1006" "0" "1006" "0" "c.1006G>T" "-" "p.Val336Phe" "" "TM5 - pore helix"
"0000971911" "00005380" "90" "1034" "0" "1034" "0" "c.1034A>G" "-" "p.His345Arg" "" "TM5 - pore helix"
"0000971912" "00005380" "90" "1039" "0" "1039" "0" "c.1039C>T" "-" "p.Arg347Cys" "" "TM5 - pore helix"
"0000971913" "00005380" "90" "1048" "0" "1048" "0" "c.1048A>G" "-" "p.Arg350Gly" "" "TM5 - pore helix"
"0000971914" "00005380" "90" "1058" "0" "1058" "0" "c.1058T>C" "-" "p.Ile353Thr" "" "Pore helix"
"0000971915" "00005380" "90" "1061" "0" "1061" "0" "c.1061A>G" "-" "p.Tyr354Cys" "" "Pore helix"
"0000971916" "00005380" "90" "1063" "0" "1063" "0" "c.1063A>G" "-" "p.Ser355Gly" "" "Pore helix"
"0000971917" "00005380" "90" "1070" "0" "1070" "0" "c.1070A>G" "-" "p.Tyr357Cys" "" "Pore helix"
"0000971918" "00005380" "90" "1076" "0" "1076" "0" "c.1076C>T" "-" "p.Ser359Phe" "" "Pore helix"
"0000971919" "00005380" "90" "1085" "0" "1085" "0" "c.1085C>T" "-" "p.Thr362Ile" "" "Pore helix"
"0000971920" "00005380" "90" "1103" "0" "1103" "0" "c.1103A>G" "-" "p.Glu368Gly" "" "pore helix -TM6"
"0000971921" "00005380" "90" "1114" "0" "1114" "0" "c.1114C>G" "-" "p.Pro372Ala" "" "pore helix -TM6"
"0000971922" "00005380" "90" "1115" "0" "1115" "0" "c.1115C>T" "-" "p.Pro372Leu" "" "pore helix -TM6"
"0000971923" "00005380" "90" "1117" "0" "1117" "0" "c.1117G>A" "-" "p.Val373Met" "" "pore helix -TM6"
"0000971924" "00005380" "90" "1124" "0" "1124" "0" "c.1124A>G" "-" "p.Asp375Gly" "" "TM6"
"0000971925" "00005380" "90" "1162" "0" "1162" "0" "c.1162G>A" "-" "p.Gly388Ser" "" "TM6"
"0000971926" "00005380" "90" "1163" "0" "1163" "0" "c.1163G>A" "-" "p.Gly388Asp" "" "TM6"
"0000971927" "00005380" "90" "1163" "0" "1163" "0" "c.1163G>T" "-" "p.Gly388Val" "" "TM6"
"0000971928" "00005380" "90" "1190" "0" "1190" "0" "c.1190G>T" "-" "p.Gly397Val" "" "TM6"
"0000971929" "00005380" "90" "1201" "0" "1201" "0" "c.1201T>C" "-" "p.Ser401Pro" "" "TM6"
"0000971930" "00005380" "90" "1243" "0" "1243" "0" "c.1243G>C" "-" "p.Ala415Pro" "" "C-linker αA"
"0000971931" "00005380" "90" "1254" "0" "1254" "0" "c.1254T>G" "-" "p.Asp418Glu" "" "C-linker αA"
"0000971932" "00005380" "90" "1255" "0" "1255" "0" "c.1255T>C" "-" "p.Ser419Pro" "" "C-linker αA"
"0000971933" "00005380" "90" "1256" "0" "1256" "0" "c.1256C>T" "-" "p.Ser419Phe" "" "C-linker αA"
"0000971934" "00005380" "90" "1268" "0" "1268" "0" "c.1268A>C" "-" "p.Tyr423Ser" "" "C-linker αA"
"0000971935" "00005380" "90" "1271" "0" "1271" "0" "c.1271T>C" "-" "p.Met424Thr" "" "C-linker αA"
"0000971936" "00005380" "90" "1280" "0" "1280" "0" "c.1280G>T" "-" "p.Arg427Leu" "" "C-linker αA - αB"
"0000971937" "00005380" "90" "1286" "0" "1286" "0" "c.1286T>C" "-" "p.Val429Ala" "" "C-linker αA - αB"
"0000971938" "00005380" "90" "1294" "0" "1294" "0" "c.1294G>T" "-" "p.Asp432Tyr" "" "C-linker αB"
"0000971939" "00005380" "10" "1307" "0" "1307" "0" "c.1307G>A" "-" "p.Arg436Gln" "" "C-linker αB"
"0000971940" "00005380" "90" "1319" "0" "1319" "0" "c.1319G>C" "-" "p.Trp440Ser" "" "C-linker αB"
"0000971941" "00005380" "90" "1343" "0" "1343" "0" "c.1343A>G" "-" "p.Lys448Arg" "" "C-linker αB - αC"
"0000971942" "00005380" "90" "1391" "0" "1391" "0" "c.1391T>G" "-" "p.Leu464Arg" "" "C-linker αD"
"0000971943" "00005380" "90" "1412" "0" "1412" "0" "c.1412A>G" "-" "p.Asn471Ser" "" "C-linker αD"
"0000971944" "00005380" "90" "1435" "0" "1436" "0" "c.1435_1436delinsGT" "-" "p.Lys479Val" "" "C-linker αE"
"0000971945" "00005380" "90" "1457" "0" "1457" "0" "c.1457G>A" "-" "p.Cys486Tyr" "" "C-linker αF - CNBD αA"
"0000971946" "00005380" "90" "1466" "0" "1466" "0" "c.1466G>T" "-" "p.Gly489Val" "" "CNBD αA"
"0000971947" "00005380" "90" "1513" "0" "1513" "0" "c.1513C>G" "-" "p.Pro505Ala" "" "CNBD β1 - β2"
"0000971948" "00005380" "90" "1520" "0" "1520" "0" "c.1520A>G" "-" "p.Asp507Gly" "" "CNBD β1 - β2"
"0000971949" "00005380" "90" "1535" "0" "1535" "0" "c.1535A>T" "-" "p.Lys512Met" "" "CNBD β2 - β3"
"0000971950" "00005380" "90" "1537" "0" "1537" "0" "c.1537G>A" "-" "p.Gly513Arg" "" "CNBD β2 - β3"
"0000971951" "00005380" "90" "1540" "0" "1540" "0" "c.1540G>A" "-" "p.Asp514Asn" "" "CNBD β2 - β3"
"0000971952" "00005380" "90" "1541" "0" "1541" "0" "c.1541A>T" "-" "p.Asp514Val" "" "CNBD β2 - β3"
"0000971953" "00005380" "90" "1556" "0" "1556" "0" "c.1556T>C" "-" "p.Met519Thr" "" "CNBD β3"
"0000971954" "00005380" "90" "1557" "0" "1557" "0" "c.1557G>A" "-" "p.Met519Ile" "" "CNBD β3"
"0000971955" "00005380" "90" "1573" "0" "1573" "0" "c.1573G>A" "-" "p.Gly525Ser" "" "CNBD β3 - β4"
"0000971956" "00005380" "90" "1579" "0" "1579" "0" "c.1579C>A" "-" "p.Leu527Met" "" "CNBD β4"
"0000971957" "00005380" "90" "1580" "0" "1580" "0" "c.1580T>G" "-" "p.Leu527Arg" "" "CNBD β4"
"0000971958" "00005380" "90" "1597" "0" "1597" "0" "c.1597G>C" "-" "p.Asp533His" "" "CNBD β4 - β5"
"0000971959" "00005380" "10" "1615" "0" "1615" "0" "c.1615G>A" "-" "p.Val539Met" "" "CNBD β5"
"0000971960" "00005380" "10" "1618" "0" "1618" "0" "c.1618G>A" "-" "p.Val540Ile" "" "CNBD β5"
"0000971961" "00005380" "90" "1621" "0" "1621" "0" "c.1621C>T" "-" "p.Leu541Phe" "" "CNBD β5"
"0000971962" "00005380" "90" "1640" "0" "1640" "0" "c.1640T>G" "-" "p.Phe547Cys" "" "CNBD β6"
"0000971963" "00005380" "90" "1642" "0" "1642" "0" "c.1642G>A" "-" "p.Gly548Arg" "" "CNBD β6"
"0000971964" "00005380" "90" "1658" "0" "1658" "0" "c.1658T>A" "-" "p.Leu553Gln" "" "CNBD β6 - β7"
"0000971965" "00005380" "90" "1679" "0" "1679" "0" "c.1679C>T" "-" "p.Ser560Leu" "" "CNBD β6 - β7"
"0000971966" "00005380" "90" "1682" "0" "1682" "0" "c.1682G>A" "-" "p.Gly561Glu" "" "CNBD β6 - β7"
"0000971967" "00005380" "90" "1686" "0" "1686" "0" "c.1686C>A" "-" "p.Asn562Lys" "" "CNBD β6 - β7"
"0000971968" "00005380" "90" "1705" "0" "1705" "0" "c.1705C>T" "-" "p.Arg569Cys" "" "CNBD β7"
"0000971969" "00005380" "90" "1708" "0" "1708" "0" "c.1708A>G" "-" "p.Ser570Gly" "" "CNBD β7"
"0000971970" "00005380" "90" "1709" "0" "1709" "0" "c.1709G>A" "-" "p.Ser570Asn" "" "CNBD β7"
"0000971971" "00005380" "90" "1709" "0" "1709" "0" "c.1709G>T" "-" "p.Ser570Ile" "" "CNBD β7"
"0000971972" "00005380" "90" "1712" "0" "1712" "0" "c.1712T>C" "-" "p.Ile571Thr" "" "CNBD β7 - β8"
"0000971973" "00005380" "90" "1717" "0" "1717" "0" "c.1717T>C" "-" "p.Tyr573His" "" "CNBD β7 - β8"
"0000971974" "00005380" "90" "1736" "0" "1736" "0" "c.1736T>G" "-" "p.Leu579Arg" "" "CNBD β8"
"0000971975" "00005380" "90" "1771" "0" "1771" "0" "c.1771T>C" "-" "p.Tyr591His" "" "CNBD αB - αC"
"0000971976" "00005380" "90" "1775" "0" "1775" "0" "c.1775C>T" "-" "p.Pro592Leu" "" "CNBD αB - αC"
"0000971977" "00005380" "10" "1784" "0" "1784" "0" "c.1784A>G" "-" "p.Lys595Arg" "" "CNBD αC"
"0000971978" "00005380" "90" "1793" "0" "1793" "0" "c.1793T>G" "-" "p.Leu598Arg" "" "CNBD αC"
"0000971979" "00005380" "90" "1805" "0" "1805" "0" "c.1805G>A" "-" "p.Gly602Glu" "" "CNBD αC"
"0000971980" "00005380" "10" "1845" "0" "1845" "0" "c.1845G>T" "-" "p.Glu615Asp" "" "CNBD αC - CLZ"
"0000971981" "00005380" "10" "1856" "0" "1856" "0" "c.1856C>T" "-" "p.Ala619Val" "" "CNBD αC - CLZ"
"0000971982" "00005380" "90" "1862" "0" "1862" "0" "c.1862C>A" "-" "p.Ala621Glu" "" "CNBD αC - CLZ"
"0000971983" "00005380" "90" "1877" "0" "1877" "0" "c.1877T>G" "-" "p.Leu626Arg" "" "CLZ"
"0000971984" "00005380" "90" "1889" "0" "1889" "0" "c.1889T>C" "-" "p.Val630Ala" "" "CLZ"
"0000971985" "00005380" "90" "1931" "0" "1931" "0" "c.1931T>C" "-" "p.Phe644Ser" "" "CLZ"
"0000971986" "00005380" "10" "1937" "0" "1937" "0" "c.1937G>A" "-" "p.Arg646His" "" "CLZ"
"0000971987" "00005380" "90" "1949" "0" "1949" "0" "c.1949A>C" "-" "p.Glu650Ala" "" "CLZ"
"0000971988" "00005380" "10" "1968" "0" "1968" "0" "c.1968G>A" "-" "p.Met656Ile" "" "CLZ"
"0000971989" "00005380" "90" "1981" "0" "1981" "0" "c.1981C>A" "-" "p.Arg661Ser" "" "CLZ"
"0000971990" "00005380" "90" "1982" "0" "1982" "0" "c.1982G>A" "-" "p.Arg661His" "" "CLZ"
"0000971991" "00005380" "10" "2005" "0" "2005" "0" "c.2005G>C" "-" "p.Val669Leu" "" "CLZ"
"0000971992" "00005380" "10" "2050" "0" "2050" "0" "c.2050G>A" "-" "p.Gly684Arg" "" "C-Term"
"0000975474" "00005380" "50" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0000986364" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000986365" "00005380" "50" "440" "0" "440" "0" "c.440C>G" "r.(?)" "p.(Thr147Arg)" "5" ""
"0000986366" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "8" ""
"0000986367" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000986368" "00005380" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "8" ""
"0000986369" "00005380" "90" "101" "1" "101" "1" "c.101+1G>A" "r.spl" "p.Val18Serfs*6" "2i" ""
"0000986370" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "8" ""
"0000986371" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" ""
"0000986372" "00005380" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "8" ""
"0000986898" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "8" ""
"0000986899" "00005380" "70" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Ile)" "8" ""
"0000986900" "00005380" "90" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ile314del)" "8" ""
"0000986901" "00005380" "70" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "8" ""
"0000986902" "00005380" "90" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "8" ""
"0000986903" "00005380" "90" "-116" "0" "2085" "0" "c.(?_-116)_(2085_?)del" "r.0?" "p.0?" "1_8" ""
"0000987156" "00005380" "70" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.(Arg481His)" "" ""
"0000987161" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000987246" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0000987280" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0000987282" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0000987309" "00005380" "90" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" "" ""
"0000987315" "00005380" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" ""
"0000987688" "00005380" "90" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000987689" "00005380" "90" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000987690" "00005380" "90" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000987691" "00005380" "90" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" ""
"0000987692" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000987693" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000987694" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0000987695" "00005380" "70" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Cys319Arg)" "" ""
"0001010045" "00005380" "90" "682" "0" "682" "0" "c.682G>A" "r.682G>A" "p.Glu228Lys" "" ""
"0001010230" "00005380" "70" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316Ter)" "" ""
"0001010231" "00005380" "90" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316Ter)" "" ""
"0001010232" "00005380" "90" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316Ter)" "" ""
"0001010233" "00005380" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0001010234" "00005380" "70" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Gly525Asp)" "" ""
"0001010235" "00005380" "70" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Gly525Asp)" "" ""
"0001010236" "00005380" "90" "387" "0" "387" "0" "c.387del" "r.(?)" "p.(Arg131GlufsTer42)" "" ""
"0001010237" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0001010238" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0001010239" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0001010240" "00005380" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "" ""
"0001010241" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0001010242" "00005380" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Cys)" "" ""
"0001010243" "00005380" "90" "1641" "0" "1641" "0" "c.1641C>A" "r.(?)" "p.(Phe547Leu)" "" ""
"0001010311" "00005380" "90" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Ter)" "" ""
"0001010312" "00005380" "90" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Ter)" "" ""
"0001010313" "00005380" "90" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Ter)" "" ""
"0001010314" "00005380" "70" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0001010315" "00005380" "70" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" ""
"0001010316" "00005380" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563His)" "" ""
"0001010317" "00005380" "70" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Gly525Asp)" "" ""
"0001010318" "00005380" "90" "130" "0" "151" "0" "c.130_151dup" "r.(?)" "p.(Ala51ValfsTer16)" "" ""
"0001010319" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0001010320" "00005380" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "" ""
"0001010322" "00005380" "90" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" ""
"0001022314" "00005380" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277His)" "" ""
"0001022355" "00005380" "70" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569Cys)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1541
"{{screeningid}}" "{{variantid}}"
"0000000414" "0000815571"
"0000019827" "0000040275"
"0000034588" "0000061692"
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