### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RP1L1)
# 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}}"
"RP1L1" "retinitis pigmentosa 1-like 1" "8" "p23.1" "unknown" "NG_028035.1" "UD_132085411928" "" "https://www.LOVD.nl/RP1L1" "" "1" "15946" "94137" "608581" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/RP1L1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-11-24 00:00:00" "00006" "2020-11-26 19:13:21" "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}}"
"00018053" "RP1L1" "retinitis pigmentosa 1-like 1" "001" "NM_178857.5" "" "NP_849188.4" "" "" "" "-229" "7749" "7203" "10512617" "10463859" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59"
"00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56"
"03367" "OCMD" "dystrophy, macular, occult (OCMD)" "AD" "613587" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-11 14:43:46"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39"
"06802" "RP88" "retinitis pigmentosa, type 88" "AR" "618826" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"RP1L1" "03367"
"RP1L1" "06802"
## Individuals ## Do not remove or alter this header ##
## Count = 578
"{{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}}"
"00059797" "" "" "" "1" "" "00237" "" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "RD2"
"00060101" "" "" "" "1" "" "00237" "{PMID:Davidson 2013:23281133}" "family history one F sibling reported affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe, white" "OD5"
"00060102" "" "" "" "1" "" "00237" "{PMID:Davidson 2013:23281133}" "no family history" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe, white" "OD4"
"00060103" "" "" "" "1" "" "00237" "{PMID:Davidson 2013:23281133}" "no family history" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "OD7"
"00060104" "" "" "" "1" "" "00237" "{PMID:Davidson 2013:23281133}" "no family history" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe, white" "OD11"
"00060105" "" "" "" "1" "" "00237" "{PMID:Davidson 2013:23281133}" "family history one F sibling reported affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "OD12"
"00060106" "" "" "" "3" "" "00237" "{PMID:Davidson 2013:23281133}" "family, 3 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe, white" "OD13"
"00060107" "" "" "" "1" "" "00237" "{PMID:Davidson 2013:23281133}" "no family history" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe, white" "OD16"
"00060108" "" "" "" "2" "" "00237" "{PMID:Davidson 2013:23281133}" "family, affected father/son" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe, white" "OD20"
"00060109" "" "" "" "2" "" "00237" "{PMID:Davidson 2013:23281133}" "family, affected brother/sister" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe, white" "OD24"
"00060110" "" "" "" "1" "" "00237" "{PMID:Davidson 2013:23281133}" "no family history" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "OD27"
"00060111" "" "" "" "1" "" "00237" "" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00060112" "" "" "" "1" "" "00237" "" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00060113" "" "" "" "1" "" "00237" "" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00060114" "" "" "" "1" "" "00237" "" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00060115" "" "" "" "1" "" "00237" "" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00060116" "" "" "" "1" "" "00237" "" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00060117" "" "" "" "3" "" "00237" "{PMID:Davidson 2013:23281133}" "5-generation family, 3 affected (F, 2M)" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "RD1PatIV4"
"00060215" "" "" "" "1" "" "01251" "{PMID:Liu 2016:27029556}, {DOI:Liu 2016:10.3109/13816810.2016.1151898}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Denmark" "" "0" "" "" "" ""
"00144156" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" ""
"00176997" "" "" "" "1" "" "02552" "" "" "F" "no" "" "" "0" "" "" "" "70757"
"00232916" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232917" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232918" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232919" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232920" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232921" "" "" "" "572" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232922" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232923" "" "" "" "16" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232924" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232925" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232926" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232927" "" "" "" "175" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232928" "" "" "" "41" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232929" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232930" "" "" "" "502" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1201 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232931" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1190 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232932" "" "" "" "502" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1189 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232933" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1190 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232934" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1190 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232935" "" "" "" "172" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1193 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232936" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1193 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232937" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1197 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232938" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1197 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232939" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1197 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232940" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1194 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232941" "" "" "" "494" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1191 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232942" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1195 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232943" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1196 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232944" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232945" "" "" "" "55" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232946" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232947" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232948" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232949" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232950" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232951" "" "" "" "175" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232952" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232953" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232954" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232955" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232956" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232957" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232958" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232959" "" "" "" "525" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232960" "" "" "" "333" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232961" "" "" "" "43" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232962" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232963" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232964" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232965" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232966" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232967" "" "" "" "100" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232968" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232969" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232970" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232971" "" "" "" "430" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1198 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232972" "" "" "" "463" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1191 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232973" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232974" "" "" "" "505" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1197 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232975" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232976" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232977" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232978" "" "" "" "529" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232979" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232980" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232981" "" "" "" "34" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232982" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232983" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232984" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232985" "" "" "" "18" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232986" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232987" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232988" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232989" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232990" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232991" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232992" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232993" "" "" "" "429" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232994" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232995" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232996" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232997" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232998" "" "" "" "178" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232999" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233000" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233001" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233002" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233003" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233004" "" "" "" "11" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233005" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233006" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233007" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233008" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233009" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233010" "" "" "" "175" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233011" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233012" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233013" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233014" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233015" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233016" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233017" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233018" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233019" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233020" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233021" "" "" "" "591" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233022" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233023" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233024" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233025" "" "" "" "9" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233026" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233027" "" "" "" "165" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233028" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233029" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233030" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233031" "" "" "" "48" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233032" "" "" "" "88" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233033" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233034" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233035" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233036" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233037" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233038" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233729" "" "" "" "352" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233730" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233731" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233732" "" "" "" "183" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1201 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233733" "" "" "" "185" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1189 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233734" "" "" "" "1011" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1193 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233735" "" "" "" "203" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1191 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233736" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233737" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233738" "" "" "" "188" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233739" "" "" "" "32" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233740" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233741" "" "" "" "139" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1198 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233742" "" "" "" "99" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1191 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233743" "" "" "" "245" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1197 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233744" "" "" "" "499" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233745" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233746" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233747" "" "" "" "49" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233748" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233749" "" "" "" "12" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233750" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233751" "" "" "" "347" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233752" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233753" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233754" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00245771" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00294541" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294542" "" "" "" "263" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294544" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294545" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00301671" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" ""
"00305174" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00308655" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00308723" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" ""
"00331288" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "patient, no family history" "F" "" "Japan" "" "0" "" "" "" "Pat42"
"00332043" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat181"
"00332044" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat182"
"00332200" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB307"
"00332212" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB372"
"00332213" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB47"
"00332508" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat33"
"00333356" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat16"
"00333388" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD10–02"
"00358752" "" "" "00060106" "1" "" "00000" "{PMID:Davidson 2013:23281133}" "father of OD13" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00358753" "" "" "00060106" "1" "" "00000" "{PMID:Davidson 2013:23281133}" "brother of OD13" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00358754" "" "" "00060108" "1" "" "00000" "{PMID:Davidson 2013:23281133}" "father of OD20" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00358755" "" "" "00060109" "1" "" "00000" "{PMID:Davidson 2013:23281133}" "sister of OD24" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00358756" "" "" "" "2" "" "00000" "{PMID:Fujinami 2016:27623337}" "family, 2 affected" "F" "" "Japan" "" "0" "" "" "" "Fam1PatIII2"
"00358757" "" "" "00358756" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "F" "" "Japan" "" "0" "" "" "" "Fam1PatII2"
"00358758" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "F" "" "Japan" "" "0" "" "" "" "Fam2PatII1"
"00358759" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "M" "" "Japan" "" "0" "" "" "" "Fam3PatII1"
"00358760" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "M" "" "Japan" "" "0" "" "" "" "Fam4PatIII1"
"00358761" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "M" "" "Japan" "" "0" "" "" "" "Fam5PatII1"
"00358763" "" "" "" "2" "" "00000" "{PMID:Fujinami 2016:27623337}" "family, 2 affected" "M" "" "Japan" "" "0" "" "" "" "Fam7PatII2"
"00358764" "" "" "00358763" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "F" "" "Japan" "" "0" "" "" "" "Fam7PatI2"
"00358766" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "M" "" "Japan" "" "0" "" "" "" "Fam9PatII1"
"00358767" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "F" "" "Japan" "" "0" "" "" "" "Fam10PatII4"
"00358768" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "M" "" "Japan" "" "0" "" "" "" "Fam11PatII1"
"00358769" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "M" "" "Japan" "" "0" "" "" "" "Fam12PatII1"
"00358771" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "F" "" "Japan" "" "0" "" "" "" "Fam14PatII1"
"00358775" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "F" "" "Japan" "" "0" "" "" "" "Fam18PatII2"
"00358776" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "M" "" "Japan" "" "0" "" "" "" "Fam19PatII4"
"00358982" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71780"
"00362005" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat8AB"
"00362009" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat12AB"
"00362227" "" "" "" "1" "" "04043" "Fadaie 2021, submitted" "" "M" "" "Netherlands" "" "0" "" "" "" "?"
"00362896" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "MDS234"
"00362901" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ZD218"
"00362902" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ZD302"
"00363720" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG2561"
"00372669" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP281"
"00372681" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP292"
"00372740" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP262"
"00373464" "" "" "" "1" "" "00006" "{PMID:Kikuchi 2015:25692141Kikuchi 2015}" "4-generation family, 1 affected" "F" "" "Japan" "" "0" "" "" "" "patient"
"00375309" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6057"
"00375310" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6244"
"00375311" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6317"
"00375312" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6386"
"00375313" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6501"
"00375314" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6547"
"00375341" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6154"
"00375419" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#011"
"00375420" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#012"
"00375422" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#015"
"00375429" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#023"
"00376315" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "in unaffected mother" "" "" "Finland" "" "0" "" "" "Finnish" ""
"00377954" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "" "" "" "" "" "0" "" "" "" ""
"00379662" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0047"
"00380107" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?"
"00383501" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00383651" "" "" "" "1" "" "00000" "{PMID:Hu 2019:31236346}" "" "F" "no" "" "" "0" "" "" "" "EQT38_II:1"
"00384114" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2391"
"00384574" "" "" "" "1" "" "00000" "{PMID:Albarry 2019:31833436}" "Family 2, individual VI:2" "M" "" "Saudi Arabia" "" "0" "" "" "" "2_VI:2"
"00386167" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-268"
"00386170" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-125, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-282"
"00386172" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-284"
"00386174" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-287"
"00386219" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-174, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-343"
"00386222" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-178, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-363"
"00386253" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-520"
"00387615" "" "" "" "1" "" "00000" "{PMID:Liu 2017:27029556}" "" "" "" "" "" "0" "" "" "" ""
"00387616" "" "" "" "1" "" "00000" "{PMID:Liu 2017:27029556}" "" "" "" "" "" "0" "" "" "" ""
"00387617" "" "" "" "1" "" "00000" "{PMID:Liu 2017:27029556}" "" "" "" "" "" "0" "" "" "" ""
"00387618" "" "" "" "1" "" "00000" "{PMID:Liu 2017:27029556}" "" "" "" "" "" "0" "" "" "" ""
"00387664" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "52"
"00388502" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14020099"
"00388950" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 81, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "234"
"00388951" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 81, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "235"
"00389084" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 123, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "368"
"00389194" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 156, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "478"
"00389328" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 220, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "612"
"00389361" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 231, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "645"
"00389365" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 233, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "649"
"00389366" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "650"
"00389367" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "651"
"00389368" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "652"
"00389369" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "653"
"00389370" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "654"
"00389371" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 234, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "655"
"00389390" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 243, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "674"
"00389416" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 259, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "700"
"00389417" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 259, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "701"
"00389425" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 263, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "709"
"00389440" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 271, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "724"
"00389441" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 271, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "725"
"00389450" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 280, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "734"
"00389460" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 288, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "744"
"00389461" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 288, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "745"
"00389462" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 288, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "746"
"00389470" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 291, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "754"
"00389604" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 370, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "888"
"00389653" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 410, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "937"
"00389724" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 485, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1008"
"00389725" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 485, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1009"
"00389726" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 485, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1010"
"00390035" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1496"
"00390828" "" "" "" "1" "" "00000" "{PMID:Agange-2017:27579568}" "" "M" "" "" "" "0" "" "" "chinese" ""
"00390936" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390941" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391207" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "169"
"00391208" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "170"
"00391255" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "OPH-129"
"00391259" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "F" "" "Japan" "" "0" "" "" "" "OPH-183"
"00391265" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "OPH-327"
"00391271" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "OPH-465"
"00392567" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "5"
"00392569" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "9"
"00392598" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "57"
"00392646" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "128"
"00393314" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "STGD-2"
"00393315" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "STGD-3"
"00393350" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-016"
"00393351" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-022"
"00393352" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-053"
"00393353" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-080"
"00393354" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-095"
"00393355" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-098"
"00393356" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-114"
"00393357" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-001"
"00393358" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-006"
"00393359" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-009"
"00393360" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-012"
"00393361" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-018"
"00393362" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-019"
"00393363" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-021"
"00393364" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-023"
"00393365" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-025"
"00393366" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-031"
"00393367" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-032"
"00393368" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-033"
"00393369" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-037"
"00393370" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-042"
"00393371" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-045"
"00393372" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-046"
"00393373" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-048"
"00393374" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-050"
"00393375" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-055"
"00393376" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-056"
"00393377" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-061"
"00393378" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-067"
"00393379" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-074"
"00393380" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-081"
"00393381" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-085"
"00393382" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-094"
"00393383" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-099"
"00393384" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-100"
"00393385" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-110"
"00393386" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-119"
"00394536" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" ""
"00395761" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F145"
"00395854" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F002"
"00395865" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F170"
"00395880" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F142"
"00395908" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F072"
"00395919" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F012"
"00396507" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" ""
"00396584" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" ""
"00403992" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "184775"
"00408442" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "29"
"00411674" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}, {PMID:Kato 2017:29196766}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "1"
"00411675" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "2"
"00411676" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "3"
"00411677" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "4"
"00411678" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "5"
"00411679" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "6"
"00411680" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "7"
"00411681" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "8"
"00411682" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "9"
"00411683" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "10"
"00411684" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "11"
"00411685" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "12"
"00411686" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "13"
"00411687" "" "" "" "1" "" "00000" "{PMID:Tsunoda 2012:22466457}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "14"
"00411688" "" "" "" "1" "" "00000" "{PMID:Hayashi 2012:22504327}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "II-1"
"00411689" "" "" "" "1" "" "00000" "{PMID:Hayashi 2012:22504327}" "Mother of II-1" "F" "" "Japan" "" "0" "" "" "Japanese" "I-2"
"00411690" "" "" "" "1" "" "00000" "{PMID:Kabuto 2012:22605915}" "" "F" "" "Japan" "" "0" "" "" "Japanese" ""
"00411691" "" "" "" "1" "" "00000" "{PMID:Okuno 2013:23619761}" "" "F" "" "Japan" "" "0" "" "" "Japanese" ""
"00411692" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "M" "" "Korea" "" "0" "" "" "korean" "1"
"00411693" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "M" "" "Korea" "" "0" "" "" "korean" "3"
"00411694" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "M" "" "Korea" "" "0" "" "" "korean" "4"
"00411695" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "M" "" "Korea" "" "0" "" "" "korean" "6"
"00411696" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "F" "" "Korea" "" "0" "" "" "korean" "7"
"00411697" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "M" "" "Korea" "" "0" "" "" "korean" "14"
"00411698" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "M" "" "Korea" "" "0" "" "" "korean" "19"
"00411699" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "F" "" "Korea" "" "0" "" "" "korean" "8"
"00411700" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "F" "" "Korea" "" "0" "" "" "korean" "15"
"00411701" "" "" "" "1" "" "00000" "{PMID:Ahn 2013:23745001}" "" "F" "" "Korea" "" "0" "" "" "korean" "17"
"00411702" "" "" "" "1" "" "00000" "{PMID:Takahashi 2014:24838559}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "JU#0444"
"00411703" "" "" "" "4" "" "00000" "{PMID:Ziccardi 2015:25908487}" "" "F;M" "" "(Italy)" "" "0" "" "" "" ""
"00411704" "" "" "" "1" "" "00000" "{PMID:Nakanishi 2015:26544792}" "" "F" "" "Japan" "" "0" "" "" "" "1"
"00411705" "" "" "" "1" "" "00000" "{PMID:Nakanishi 2015:26544792}" "" "M" "" "Japan" "" "0" "" "" "" "2"
"00411706" "" "" "" "1" "" "00000" "{PMID:Nakanishi 2015:26544792}" "" "F" "" "Japan" "" "0" "" "" "" "3"
"00411707" "" "" "" "1" "" "00000" "{PMID:Piermarocchi 2016:26782618}" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "II 1"
"00411708" "" "" "" "1" "" "00000" "{PMID:Piermarocchi 2016:26782618}" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "III 1"
"00411709" "" "" "" "1" "" "00000" "{PMID:Piermarocchi 2016:26782618}" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "III 2"
"00411710" "" "" "" "1" "" "00000" "{PMID:Fu 2019:28195981}" "" "M" "" "(Taiwan)" "" "0" "" "" "" ""
"00411711" "" "" "" "1" "" "00000" "{PMID:Saffra 2017:28473427}" "" "M" "" "" "" "0" "" "" "Ashkenazi Jewish" ""
"00411712" "" "" "" "1" "" "00000" "{PMID:Kato 2017:29196766}" "" "F" "" "" "" "0" "" "" "" "F1-KA290"
"00411713" "" "" "" "1" "" "00000" "{PMID:Kato 2017:29196766}" "" "F" "" "" "" "0" "" "" "" "F1-KA291"
"00411714" "" "" "" "1" "" "00000" "{PMID:Kato 2017:29196766}" "" "F" "" "" "" "0" "" "" "" "F2-KA007"
"00411715" "" "" "" "1" "" "00000" "{PMID:Kato 2017:29196766}" "" "F" "" "" "" "0" "" "" "" "F2-KA243"
"00411716" "" "" "" "1" "" "00000" "{PMID:Kato 2017:29196766}" "" "M" "" "" "" "0" "" "" "" "F3-KA208"
"00411717" "" "" "" "1" "" "00000" "{PMID:Kato 2017:29196766}" "" "F" "" "" "" "0" "" "" "" "F3-KA209"
"00411718" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "1-II:1"
"00411719" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "2-III:2"
"00411720" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "2-II:2"
"00411721" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "3-III:1"
"00411722" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "3-II:1"
"00411723" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "3-II:3"
"00411724" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "4-III:1"
"00411725" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "4-III:2"
"00411726" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "4-II:2"
"00411727" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "4-II:4"
"00411728" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "" "" "" "" "0" "" "" "Asian" "4-I:1"
"00411729" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "5-II:1"
"00411730" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "" "" "" "" "0" "" "" "Asian" "5-II:2"
"00411731" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "" "" "" "" "0" "" "" "Asian" "5-I:2"
"00411732" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "6-II:1"
"00411733" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "6-I:1"
"00411734" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "" "" "" "" "0" "" "" "Asian" "6-II:2"
"00411735" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "7-II:3"
"00411736" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "8-III:2"
"00411737" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "8-III:1"
"00411738" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "8-II:4"
"00411739" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "9-II:2"
"00411740" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "10-II:2"
"00411741" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "11-II:1"
"00411742" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "12-II:1"
"00411743" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "13-II:1"
"00411744" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "13-I:1"
"00411745" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "14-II:2"
"00411746" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "14-I:2"
"00411747" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "15-II:1"
"00411748" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "16-IV:3"
"00411749" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "16-III:2"
"00411750" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "17-II:4"
"00411751" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "17-III:2"
"00411752" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "17-III:4"
"00411753" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "18-II:1"
"00411754" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "19-II:2"
"00411755" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "19-III:1"
"00411756" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "F" "" "" "" "0" "" "" "Asian" "20-II:1"
"00411757" "" "" "" "1" "" "00000" "{PMID:Fujinami 2019:31028767}" "" "M" "" "" "" "0" "" "" "Asian" "21-II:1"
"00411758" "" "" "" "1" "" "00000" "{PMID:Ruan 2019:31193770}" "" "F" "" "" "" "0" "" "" "" "Case 1"
"00411759" "" "" "" "1" "" "00000" "{PMID:Ruan 2019:31193770}" "" "M" "yes" "" "" "0" "" "" "" "Case 2"
"00411760" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "1"
"00411761" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "2"
"00411762" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "3"
"00411763" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "4"
"00411764" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "5"
"00411765" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "6"
"00411766" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "7"
"00411767" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "8"
"00411768" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "9"
"00411769" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "10"
"00411770" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "11"
"00411771" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "12"
"00411772" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "13"
"00411773" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "14"
"00411774" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "15"
"00411775" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "16"
"00411776" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "17"
"00411777" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "18"
"00411778" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "19"
"00411779" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "20"
"00411780" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "21"
"00411781" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "22"
"00411782" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "23"
"00411783" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "24"
"00411784" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "25"
"00411785" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "26"
"00411786" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "27"
"00411787" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "28"
"00411788" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "29"
"00411789" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "30"
"00411790" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "31"
"00411791" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "32"
"00411792" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "33"
"00411793" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "34"
"00411794" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "35"
"00411795" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "36"
"00411796" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "37"
"00411797" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "38"
"00411798" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "39"
"00411799" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "40"
"00411800" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "41"
"00411801" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "42"
"00411802" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "43"
"00411803" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "44"
"00411804" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "45"
"00411805" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "46"
"00411806" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "47"
"00411807" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "48"
"00411808" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "49"
"00411809" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "50"
"00411810" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "51"
"00411811" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "52"
"00411812" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "53"
"00411813" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "54"
"00411814" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "55"
"00411815" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "56"
"00411816" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "57"
"00411817" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "M" "" "Japan" "" "0" "" "" "" "58"
"00411818" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "59"
"00411819" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "60"
"00411820" "" "" "" "1" "" "00000" "{PMID:Nakamura 2019:31725168}" "" "F" "" "Japan" "" "0" "" "" "" "61"
"00411821" "" "" "" "1" "" "00000" "{PMID:Fu 2019:31850186}" "Sister of P4. Father and nephew also affected but not sequenced" "F" "" "China" "" "0" "" "" "" "P3"
"00411822" "" "" "" "1" "" "00000" "{PMID:Fu 2019:31850186}" "Brother of P3. Father and nephew also affected but not sequenced" "M" "" "China" "" "0" "" "" "" "P4"
"00411823" "" "" "" "1" "" "00000" "{PMID:Wang 2020:32176261}" "" "M" "" "China" "" "0" "" "" "" "1"
"00411824" "" "" "" "1" "" "00000" "{PMID:Wang 2020:32176261}" "" "M" "" "China" "" "0" "" "" "" "2"
"00411825" "" "" "" "1" "" "00000" "{PMID:Wang 2020:32176261}" "" "F" "" "China" "" "0" "" "" "" "3"
"00411826" "" "" "" "1" "" "00000" "{PMID:Wang 2020:32176261}" "" "M" "" "China" "" "0" "" "" "" "4"
"00411827" "" "" "" "1" "" "00000" "{PMID:Wang 2020:32176261}" "" "M" "" "China" "" "0" "" "" "" "5"
"00411828" "" "" "" "1" "" "00000" "{PMID:Wang 2020:32176261}" "" "M" "" "China" "" "0" "" "" "" "6"
"00411829" "" "" "" "1" "" "00000" "{PMID:Wang 2020:32176261}" "" "M" "" "China" "" "0" "" "" "" "7"
"00411830" "" "" "" "1" "" "00000" "{PMID:Wang 2020:32176261}" "" "F" "" "China" "" "0" "" "" "" "8"
"00411831" "" "" "" "1" "" "00000" "{PMID:Wang 2020:32176261}" "" "F" "" "China" "" "0" "" "" "" "9"
"00411832" "" "" "" "1" "" "00000" "{PMID:Hiraoka 2020:32940107}" "" "M" "" "Japan" "" "0" "" "" "" "Case 1: II-3"
"00411833" "" "" "" "1" "" "00000" "{PMID:Hiraoka 2020:32940107}" "" "M" "" "Japan" "" "0" "" "" "" "Case 2: III-2"
"00414405" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP72"
"00416250" "" "" "" "1" "" "00006" "{PMID:Monroe 2016:26845106}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat3"
"00419723" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070916"
"00419881" "" "" "" "1" "" "00006" "{PMID:Sano 2022:35710107}, {PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "M" "" "Japan" "" "0" "" "" "" "OPH690"
"00420389" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F002"
"00420396" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F012"
"00420438" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F072"
"00420475" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F142"
"00420477" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F145"
"00420491" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F170"
"00420594" "" "" "" "1" "" "00000" "{PMID:Manayath 2022:34965838}" "" "M" "no" "India" "" "0" "" "" "" "?"
"00426944" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 48, individual 57" "F" "" "" "" "0" "" "" "" "48_57"
"00429510" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429572" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429642" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429773" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429880" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429895" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00430544" "" "" "" "1" "" "04333" "{PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "F" "yes" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam22"
"00446925" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "ADRP-15"
"00446965" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-125"
"00446991" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-439"
"00447001" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-456"
"00447099" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-797"
"00447105" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "CRD-815"
"00447147" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "MDS-138"
"00447149" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "MDS-166"
"00447150" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-241"
"00447167" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-420"
"00447178" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "MDS-449"
"00447214" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MISC-320"
"00447267" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1124"
"00447302" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1204"
"00447322" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1270"
"00447330" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "STGD-15"
"00447342" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-324"
"00447345" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-359"
"00447371" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-411"
"00447392" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "STGD-455"
"00447465" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "XRP-234"
"00447486" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ACHM-1284"
"00447560" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-297"
"00447609" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1165"
"00447625" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1300"
"00447635" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "UD-110"
"00447658" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "BVMD-113"
"00447681" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-447"
"00447689" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SCHI-87"
"00448008" "" "" "" "2" "" "00006" "{PMID:Zeitz 2024:38293907}" "2-generation family, affected brother/sister, unaffected parents" "F" "yes" "Tunisia" "" "0" "" "" "" "F7544PatCIC13094"
"00450645" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "074688"
"00450986" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066668"
"00450987" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "066799"
"00450988" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066805"
"00450989" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "066821"
"00450990" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066823"
"00450991" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "067278"
"00450992" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "070880"
"00450993" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071371"
"00450994" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071515"
"00450995" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071522"
"00450996" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071753"
"00450997" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071834"
"00450998" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072151"
"00450999" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072249"
"00451000" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072774"
"00451001" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "075152"
"00451094" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067259"
"00451116" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070888"
"00451205" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072035"
"00451275" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073381"
"00451299" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074095"
"00451303" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074624"
"00451330" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075035"
"00451340" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "079509"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 578
"{{individualid}}" "{{diseaseid}}"
"00059797" "00112"
"00060101" "03367"
"00060102" "03367"
"00060103" "03367"
"00060104" "03367"
"00060105" "03367"
"00060106" "03367"
"00060107" "03367"
"00060108" "03367"
"00060109" "03367"
"00060110" "03367"
"00060111" "00112"
"00060112" "00112"
"00060113" "00112"
"00060114" "00112"
"00060115" "00112"
"00060116" "00112"
"00060117" "00112"
"00060215" "04214"
"00144156" "04214"
"00176997" "00841"
"00232916" "04214"
"00232917" "04214"
"00232918" "04214"
"00232919" "04214"
"00232920" "04214"
"00232921" "04214"
"00232922" "04214"
"00232923" "04214"
"00232924" "04214"
"00232925" "04214"
"00232926" "04214"
"00232927" "04214"
"00232928" "04214"
"00232929" "04214"
"00232930" "04214"
"00232931" "04214"
"00232932" "04214"
"00232933" "04214"
"00232934" "04214"
"00232935" "04214"
"00232936" "04214"
"00232937" "04214"
"00232938" "04214"
"00232939" "04214"
"00232940" "04214"
"00232941" "04214"
"00232942" "04214"
"00232943" "04214"
"00232944" "04214"
"00232945" "04214"
"00232946" "04214"
"00232947" "04214"
"00232948" "04214"
"00232949" "04214"
"00232950" "04214"
"00232951" "04214"
"00232952" "04214"
"00232953" "04214"
"00232954" "04214"
"00232955" "04214"
"00232956" "04214"
"00232957" "04214"
"00232958" "04214"
"00232959" "04214"
"00232960" "04214"
"00232961" "04214"
"00232962" "04214"
"00232963" "04214"
"00232964" "04214"
"00232965" "04214"
"00232966" "04214"
"00232967" "04214"
"00232968" "04214"
"00232969" "04214"
"00232970" "04214"
"00232971" "04214"
"00232972" "04214"
"00232973" "04214"
"00232974" "04214"
"00232975" "04214"
"00232976" "04214"
"00232977" "04214"
"00232978" "04214"
"00232979" "04214"
"00232980" "04214"
"00232981" "04214"
"00232982" "04214"
"00232983" "04214"
"00232984" "04214"
"00232985" "04214"
"00232986" "04214"
"00232987" "04214"
"00232988" "04214"
"00232989" "04214"
"00232990" "04214"
"00232991" "04214"
"00232992" "04214"
"00232993" "04214"
"00232994" "04214"
"00232995" "04214"
"00232996" "04214"
"00232997" "04214"
"00232998" "04214"
"00232999" "04214"
"00233000" "04214"
"00233001" "04214"
"00233002" "04214"
"00233003" "04214"
"00233004" "04214"
"00233005" "04214"
"00233006" "04214"
"00233007" "04214"
"00233008" "04214"
"00233009" "04214"
"00233010" "04214"
"00233011" "04214"
"00233012" "04214"
"00233013" "04214"
"00233014" "04214"
"00233015" "04214"
"00233016" "04214"
"00233017" "04214"
"00233018" "04214"
"00233019" "04214"
"00233020" "04214"
"00233021" "04214"
"00233022" "04214"
"00233023" "04214"
"00233024" "04214"
"00233025" "04214"
"00233026" "04214"
"00233027" "04214"
"00233028" "04214"
"00233029" "04214"
"00233030" "04214"
"00233031" "04214"
"00233032" "04214"
"00233033" "04214"
"00233034" "04214"
"00233035" "04214"
"00233036" "04214"
"00233037" "04214"
"00233038" "04214"
"00233729" "04214"
"00233730" "04214"
"00233731" "04214"
"00233732" "04214"
"00233733" "04214"
"00233734" "04214"
"00233735" "04214"
"00233736" "04214"
"00233737" "04214"
"00233738" "04214"
"00233739" "04214"
"00233740" "04214"
"00233741" "04214"
"00233742" "04214"
"00233743" "04214"
"00233744" "04214"
"00233745" "04214"
"00233746" "04214"
"00233747" "04214"
"00233748" "04214"
"00233749" "04214"
"00233750" "04214"
"00233751" "04214"
"00233752" "04214"
"00233753" "04214"
"00233754" "04214"
"00245771" "04214"
"00294541" "00198"
"00294542" "00198"
"00294544" "00198"
"00294545" "00198"
"00301671" "00198"
"00305174" "00198"
"00308655" "04214"
"00308723" "00000"
"00331288" "04214"
"00332043" "04214"
"00332044" "04214"
"00332200" "04214"
"00332212" "04214"
"00332213" "04214"
"00332508" "04214"
"00333356" "04214"
"00333388" "04214"
"00358752" "03367"
"00358753" "03367"
"00358754" "03367"
"00358755" "03367"
"00358756" "03367"
"00358757" "03367"
"00358758" "03367"
"00358759" "03367"
"00358760" "03367"
"00358761" "03367"
"00358763" "03367"
"00358764" "03367"
"00358766" "03367"
"00358767" "03367"
"00358768" "03367"
"00358769" "03367"
"00358771" "03367"
"00358775" "03367"
"00358776" "03367"
"00358982" "04214"
"00362005" "04214"
"00362009" "04214"
"00362227" "04214"
"00362896" "04214"
"00362901" "04214"
"00362902" "04214"
"00363720" "04214"
"00372669" "04214"
"00372681" "04214"
"00372740" "04214"
"00373464" "04214"
"00375309" "04214"
"00375310" "04214"
"00375311" "04214"
"00375312" "04214"
"00375313" "04214"
"00375314" "04214"
"00375341" "04214"
"00375419" "04214"
"00375420" "04214"
"00375422" "04214"
"00375429" "04214"
"00376315" "04214"
"00377954" "04214"
"00379662" "00058"
"00380107" "04214"
"00383501" "04214"
"00383651" "04214"
"00384114" "04214"
"00384574" "04214"
"00386167" "04214"
"00386170" "04214"
"00386172" "04214"
"00386174" "04214"
"00386219" "04214"
"00386222" "04214"
"00386253" "04214"
"00387615" "04214"
"00387616" "04214"
"00387617" "04214"
"00387618" "04214"
"00387664" "04214"
"00388502" "04214"
"00388950" "04214"
"00388951" "04214"
"00389084" "04214"
"00389194" "04214"
"00389328" "04214"
"00389361" "04214"
"00389365" "04214"
"00389366" "04214"
"00389367" "04214"
"00389368" "04214"
"00389369" "04214"
"00389370" "04214"
"00389371" "04214"
"00389390" "04214"
"00389416" "04214"
"00389417" "04214"
"00389425" "04214"
"00389440" "04214"
"00389441" "04214"
"00389450" "04214"
"00389460" "04214"
"00389461" "04214"
"00389462" "04214"
"00389470" "04214"
"00389604" "04214"
"00389653" "04214"
"00389724" "04214"
"00389725" "04214"
"00389726" "04214"
"00390035" "04214"
"00390828" "04214"
"00390936" "04214"
"00390941" "04214"
"00391207" "04214"
"00391208" "04214"
"00391255" "04214"
"00391259" "04214"
"00391265" "04214"
"00391271" "04214"
"00392567" "04214"
"00392569" "04214"
"00392598" "04214"
"00392646" "04214"
"00393314" "04214"
"00393315" "04214"
"00393350" "04214"
"00393351" "04214"
"00393352" "04214"
"00393353" "04214"
"00393354" "04214"
"00393355" "04214"
"00393356" "04214"
"00393357" "04214"
"00393358" "04214"
"00393359" "04214"
"00393360" "04214"
"00393361" "04214"
"00393362" "04214"
"00393363" "04214"
"00393364" "04214"
"00393365" "04214"
"00393366" "04214"
"00393367" "04214"
"00393368" "04214"
"00393369" "04214"
"00393370" "04214"
"00393371" "04214"
"00393372" "04214"
"00393373" "04214"
"00393374" "04214"
"00393375" "04214"
"00393376" "04214"
"00393377" "04214"
"00393378" "04214"
"00393379" "04214"
"00393380" "04214"
"00393381" "04214"
"00393382" "04214"
"00393383" "04214"
"00393384" "04214"
"00393385" "04214"
"00393386" "04214"
"00394536" "04214"
"00395761" "04214"
"00395854" "04214"
"00395865" "04214"
"00395880" "04214"
"00395908" "04214"
"00395919" "04214"
"00396507" "04214"
"00396584" "04214"
"00403992" "03367"
"00408442" "04214"
"00411674" "04214"
"00411675" "04214"
"00411676" "04214"
"00411677" "04214"
"00411678" "04214"
"00411679" "04214"
"00411680" "04214"
"00411681" "04214"
"00411682" "04214"
"00411683" "04214"
"00411684" "04214"
"00411685" "04214"
"00411686" "04214"
"00411687" "04214"
"00411688" "04214"
"00411689" "04214"
"00411690" "04214"
"00411691" "04214"
"00411692" "04214"
"00411693" "04214"
"00411694" "04214"
"00411695" "04214"
"00411696" "04214"
"00411697" "04214"
"00411698" "04214"
"00411699" "04214"
"00411700" "04214"
"00411701" "04214"
"00411702" "04214"
"00411703" "04214"
"00411704" "04214"
"00411705" "04214"
"00411706" "04214"
"00411707" "04214"
"00411708" "04214"
"00411709" "04214"
"00411710" "04214"
"00411711" "04214"
"00411712" "04214"
"00411713" "00000"
"00411714" "04214"
"00411715" "00000"
"00411716" "04214"
"00411717" "00000"
"00411718" "04214"
"00411719" "04214"
"00411720" "04214"
"00411721" "04214"
"00411722" "04214"
"00411723" "04214"
"00411724" "04214"
"00411725" "04214"
"00411726" "04214"
"00411727" "04214"
"00411728" "04214"
"00411729" "04214"
"00411730" "04214"
"00411731" "04214"
"00411732" "04214"
"00411733" "04214"
"00411734" "04214"
"00411735" "04214"
"00411736" "04214"
"00411737" "04214"
"00411738" "04214"
"00411739" "04214"
"00411740" "04214"
"00411741" "04214"
"00411742" "04214"
"00411743" "04214"
"00411744" "04214"
"00411745" "04214"
"00411746" "04214"
"00411747" "04214"
"00411748" "04214"
"00411749" "04214"
"00411750" "04214"
"00411751" "04214"
"00411752" "04214"
"00411753" "04214"
"00411754" "04214"
"00411755" "04214"
"00411756" "04214"
"00411757" "04214"
"00411758" "04214"
"00411759" "04214"
"00411760" "04214"
"00411761" "04214"
"00411762" "04214"
"00411763" "04214"
"00411764" "04214"
"00411765" "04214"
"00411766" "04214"
"00411767" "04214"
"00411768" "04214"
"00411769" "04214"
"00411770" "04214"
"00411771" "04214"
"00411772" "04214"
"00411773" "04214"
"00411774" "04214"
"00411775" "04214"
"00411776" "04214"
"00411777" "04214"
"00411778" "04214"
"00411779" "04214"
"00411780" "04214"
"00411781" "04214"
"00411782" "04214"
"00411783" "04214"
"00411784" "04214"
"00411785" "04214"
"00411786" "04214"
"00411787" "04214"
"00411788" "04214"
"00411789" "04214"
"00411790" "04214"
"00411791" "04214"
"00411792" "04214"
"00411793" "04214"
"00411794" "04214"
"00411795" "04214"
"00411796" "04214"
"00411797" "04214"
"00411798" "04214"
"00411799" "04214"
"00411800" "04214"
"00411801" "04214"
"00411802" "04214"
"00411803" "04214"
"00411804" "04214"
"00411805" "04214"
"00411806" "04214"
"00411807" "04214"
"00411808" "04214"
"00411809" "04214"
"00411810" "04214"
"00411811" "04214"
"00411812" "04214"
"00411813" "04214"
"00411814" "04214"
"00411815" "04214"
"00411816" "04214"
"00411817" "04214"
"00411818" "04214"
"00411819" "04214"
"00411820" "04214"
"00411821" "04214"
"00411822" "04214"
"00411823" "04214"
"00411824" "04214"
"00411825" "04214"
"00411826" "04214"
"00411827" "04214"
"00411828" "04214"
"00411829" "04214"
"00411830" "04214"
"00411831" "04214"
"00411832" "04214"
"00411833" "04214"
"00414405" "00198"
"00416250" "00198"
"00419723" "04214"
"00419881" "00112"
"00420389" "04214"
"00420396" "04214"
"00420438" "04214"
"00420475" "04214"
"00420477" "04214"
"00420491" "04214"
"00420594" "04214"
"00426944" "04214"
"00429510" "00112"
"00429572" "00112"
"00429642" "00112"
"00429773" "00112"
"00429880" "00112"
"00429895" "00112"
"00430544" "03367"
"00446925" "00198"
"00446965" "00198"
"00446991" "00198"
"00447001" "00198"
"00447099" "00198"
"00447105" "00198"
"00447147" "00198"
"00447149" "00198"
"00447150" "00198"
"00447167" "00198"
"00447178" "00198"
"00447214" "00198"
"00447267" "00198"
"00447302" "00198"
"00447322" "00198"
"00447330" "00198"
"00447342" "00198"
"00447345" "00198"
"00447371" "00198"
"00447392" "00198"
"00447465" "00198"
"00447486" "00198"
"00447560" "00198"
"00447609" "00198"
"00447625" "00198"
"00447635" "00198"
"00447658" "00198"
"00447681" "00198"
"00447689" "00198"
"00448008" "04214"
"00450645" "04249"
"00450986" "04249"
"00450987" "04249"
"00450988" "04249"
"00450989" "04249"
"00450990" "04249"
"00450991" "04249"
"00450992" "04249"
"00450993" "04249"
"00450994" "04249"
"00450995" "04249"
"00450996" "04249"
"00450997" "04249"
"00450998" "04249"
"00450999" "04249"
"00451000" "04249"
"00451001" "04249"
"00451094" "04249"
"00451116" "04249"
"00451205" "04249"
"00451275" "04249"
"00451299" "04249"
"00451303" "04249"
"00451330" "04249"
"00451340" "04249"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00112, 00198, 00841, 03367, 04214, 04249, 06802
## Count = 412
"{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000046289" "00112" "00059797" "00237" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046591" "03367" "00060101" "00237" "Unknown" "78y" "age presentation late 50s ; fundus myopic degeneration, peripapillary atrophy ; fundus autofluorescence imaging normal foveal; foveal appearance on spectral‐domain optical coherence tomography myopic changes ; full‐field electroretinograms normal; pattern electroretinogram P50 components severely subnormal" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046592" "03367" "00060102" "00237" "Unknown" "47y" "age presentation 20s ; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography irregular ISe line ; full‐field electroretinograms normal; pattern electroretinogram P50 components severely subnormal" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046593" "03367" "00060103" "00237" "Unknown" "52y" "age presentation 40s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line ; Scotopic full‐field electroretinograms normal; photopic 30 Hz ERG mildly delayed. pattern electroretinogram P50 components subnormal" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046594" "03367" "00060104" "00237" "Unknown" "67y" "age presentation early 50s ; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography not available ; Scotopic full‐field electroretinograms normal; photopic 30 Hz ERG mildly delayed; pattern electroretinogram P50 components severely subnormal; central multifocal electroretinograms subnormal" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046595" "03367" "00060105" "00237" "Unknown" "31y" "age presentation late 20s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line; significant thinning ; full‐field electroretinograms normal; pattern electroretinogram P50 components severely subnormal; widespread multifocal electroretinograms reduction" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046596" "03367" "00060106" "00237" "Unknown" "31y" "age presentation first decade of life ; fundus normal right eye, small area of atrophy left eye (coloboma) ; fundus autofluorescence imaging irregular foveal, consistent with coloboma left eye; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola of re; consistent with coloboma in the le ; full‐field electroretinograms normal; pattern electroretinogram P50 components subnormal; central multifocal electroretinograms subnormal." "" "" "" "" "" "" "" "" "" "" "" ""
"0000046597" "03367" "00060107" "00237" "Unknown" "31y" "age presentation 15y; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography disruption of the ISe line ; full‐field electroretinograms normal; pattern electroretinogram P50 components normal; central multifocal electroretinograms markedly subnormal" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046598" "03367" "00060108" "00237" "Unknown" "42y" "age presentation late 30s ; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line ; full‐field electroretinograms normal; pattern electroretinogram P50 components subnormal; central multifocal electroretinograms abnormal" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046599" "03367" "00060109" "00237" "Unknown" "74y" "age presentation late 60s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line ; full‐field electroretinograms normal; pattern electroretinogram P50 components subnormal" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046600" "03367" "00060110" "00237" "Unknown" "35y" "age presentation mid 20s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line ; Normal full‐field electroretinogramss; pattern electroretinogram P50 components severely subnormal" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046601" "00112" "00060111" "00237" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046602" "00112" "00060112" "00237" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046603" "00112" "00060113" "00237" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046604" "00112" "00060114" "00237" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046605" "00112" "00060115" "00237" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046606" "00112" "00060116" "00237" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046607" "00112" "00060117" "00237" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000046705" "04214" "00060215" "01251" "Complex" "" "di-genic inheritance; atypical retinitis pigmentosa; unilateral (left side) vestibular areflexia, tremor, low normal intelligence, anxiety, some obsessive behavior" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000116934" "04214" "00144156" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000141814" "00841" "00176997" "02552" "Familial, autosomal recessive" "" "HP:0000160\r\nHP:0001252\r\nHP:0002078\r\nHP:0002313\r\nHP:0000565" "" "" "HP:0003623" "" "" "" "" "" "" "" "" ""
"0000228772" "00198" "00301671" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000234083" "04214" "00308655" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000249482" "04214" "00331288" "00000" "Familial, autosomal recessive" "46y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000250234" "04214" "00332043" "00000" "Familial, autosomal dominant" "43y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "18y" "" "reduced visual acuity" "" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250235" "04214" "00332044" "00000" "Familial, autosomal dominant" "53y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "46y" "" "reduced visual acuity" "" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250387" "04214" "00332200" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000250399" "04214" "00332212" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000250400" "04214" "00332213" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000250692" "04214" "00332508" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (AD)" ""
"0000251543" "04214" "00333356" "00000" "Familial, autosomal dominant" "39y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251575" "04214" "00333388" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "OCMD" ""
"0000253967" "03367" "00358752" "00000" "Unknown" "57y" "asymptomatic; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography normal ; full‐field electroretinograms normal; pattern electroretinogram P50 components normal; multifocal electroretinograms normal" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253968" "03367" "00358753" "00000" "Unknown" "29y" "age presentation asymptomatic; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography normal ; Not availabl" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253969" "03367" "00358754" "00000" "Unknown" "73y" "asymptomatic; fundus normal right eye macular drusen, left eye epiretinal membrane ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography consistent with re macular drusen and le epiretinal membrane ; full‐field electroretinograms normal; pattern electroretinogram P50 components normal on left and mildly subnormal on right normal central multifocal electroretinogramss but mildly subnormal paracentral multifocal electroretinograms right eye" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253970" "03367" "00358755" "00000" "Unknown" "67y" "asymptomatic; fundus normal ; fundus autofluorescence imaging normal; foveal appearance on spectral‐domain optical coherence tomography normal ; full‐field electroretinograms normal; pattern electroretinogram P50 components normal central; multifocal electroretinograms normal" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253971" "03367" "00358756" "00000" "Familial, autosomal dominant" "14y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "7y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253972" "03367" "00358757" "00000" "Familial, autosomal dominant" "45y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "40y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253973" "03367" "00358758" "00000" "Isolated (sporadic)" "31y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "25y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253974" "03367" "00358759" "00000" "Isolated (sporadic)" "36y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "20y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253975" "03367" "00358760" "00000" "Familial, autosomal dominant" "46y" "ERG-full field normal, central dysfunction; funduscopy pale disc; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "33y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253976" "03367" "00358761" "00000" "Isolated (sporadic)" "42y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "34y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253978" "03367" "00358763" "00000" "Familial, autosomal dominant" "49y" "ERG-full field normal, central dysfunction; funduscopy pale disc; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "48y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253979" "03367" "00358764" "00000" "Familial, autosomal dominant" "79y" "ERG-full field normal, central dysfunction; funduscopy pale disc; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "79y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253981" "03367" "00358766" "00000" "Familial, autosomal dominant" "51y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "25y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253982" "03367" "00358767" "00000" "Isolated (sporadic)" "52y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "48y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253983" "03367" "00358768" "00000" "Isolated (sporadic)" "52y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "45y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253984" "03367" "00358769" "00000" "Isolated (sporadic)" "52y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, no absence interdigitation zone" "44y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253986" "03367" "00358771" "00000" "Familial, autosomal dominant" "54y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "40y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253990" "03367" "00358775" "00000" "Familial, autosomal dominant" "65y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "61y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000253991" "03367" "00358776" "00000" "Isolated (sporadic)" "69y" "ERG-full field normal, central dysfunction; funduscopy hard drusen; spectral‐domain optical coherence tomography no blurring ellipsoid zone, no absence interdigitation zone" "64y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000254280" "04214" "00358982" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000257398" "04214" "00362005" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" ""
"0000257402" "04214" "00362009" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" ""
"0000257641" "04214" "00362227" "04043" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "con-rod dystrophy" ""
"0000258262" "04214" "00362896" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000258267" "04214" "00362901" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000258268" "04214" "00362902" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000259070" "04214" "00363720" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000267948" "04214" "00372669" "00000" "Familial, autosomal recessive" "16y" "see paper; ..." "6y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267960" "04214" "00372681" "00000" "Familial, X-linked" "26y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268019" "04214" "00372740" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268740" "04214" "00373464" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000270523" "04214" "00375309" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270524" "04214" "00375310" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270525" "04214" "00375311" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270526" "04214" "00375312" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270527" "04214" "00375313" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270528" "04214" "00375314" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270555" "04214" "00375341" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270633" "04214" "00375419" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270634" "04214" "00375420" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270636" "04214" "00375422" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270643" "04214" "00375429" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000271523" "04214" "00376315" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa ( RP)" ""
"0000273100" "04214" "00377954" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000273506" "00058" "00379662" "03508" "Familial, autosomal recessive" "" "HP:0001129,\tHP:0000639,\tHP:0001483,\tHP:0000007,\tHP:0000548" "" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" ""
"0000273961" "04214" "00380107" "00000" "Unknown" "70y" "Multifocal geographic atrophy with foveal sparing surrounded by large soft drusen" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000277286" "04214" "00383501" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277436" "04214" "00383651" "00000" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277899" "04214" "00384114" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000278362" "04214" "00384574" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000279970" "04214" "00386167" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000279973" "04214" "00386170" "00000" "Familial, autosomal dominant" "33y" "" "" "33y" "" "" "" "" "" "" "" "cone-rod dystrophy" "Best macular dystrophy" ""
"0000279975" "04214" "00386172" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000279977" "04214" "00386174" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Best macular dystrophy" ""
"0000280022" "04214" "00386219" "00000" "Familial, X-linked" "34y" "" "" "24y" "" "" "" "" "" "" "" "retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" ""
"0000280025" "04214" "00386222" "00000" "Familial, autosomal recessive" "33y" "" "" "24y" "" "" "" "" "" "" "" "Best macular dystrophy" "" ""
"0000280056" "04214" "00386253" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000281178" "04214" "00387615" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000281179" "04214" "00387616" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000281180" "04214" "00387617" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000281181" "04214" "00387618" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000281227" "04214" "00387664" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Childhood retinal disease" ""
"0000282054" "04214" "00388502" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000282491" "04214" "00388950" "00000" "Familial, autosomal dominant" "104y" "age at genetic diagnosis mentioned" "" "98y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282492" "04214" "00388951" "00000" "Familial, autosomal dominant" "57y" "age at genetic diagnosis mentioned" "" "51y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282625" "04214" "00389084" "00000" "Familial, autosomal dominant" "32y" "age at genetic diagnosis mentioned" "" "25y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282735" "04214" "00389194" "00000" "Familial, autosomal dominant" "40y" "age at genetic diagnosis mentioned" "" "33y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282869" "04214" "00389328" "00000" "Familial, autosomal recessive" "31y" "age at genetic diagnosis mentioned" "" "25y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282902" "04214" "00389361" "00000" "Familial, autosomal dominant" "73y" "age at genetic diagnosis mentioned" "" "65y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000282906" "04214" "00389365" "00000" "Familial, autosomal dominant" "48y" "age at genetic diagnosis mentioned" "" "46y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282907" "04214" "00389366" "00000" "Familial, autosomal dominant" "50y" "age at genetic diagnosis mentioned" "" "49y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000282908" "04214" "00389367" "00000" "Familial, autosomal dominant" "63y" "age at genetic diagnosis mentioned" "" "63y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000282909" "04214" "00389368" "00000" "Familial, autosomal dominant" "83y" "age at genetic diagnosis mentioned" "" "82y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000282910" "04214" "00389369" "00000" "Familial, autosomal dominant" "79y" "age at genetic diagnosis mentioned" "" "78y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000282911" "04214" "00389370" "00000" "Familial, autosomal dominant" "54y" "age at genetic diagnosis mentioned" "" "53y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000282912" "04214" "00389371" "00000" "Familial, autosomal dominant" "22y" "age at genetic diagnosis mentioned" "" "22y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000282931" "04214" "00389390" "00000" "Familial, autosomal dominant" "31y" "age at genetic diagnosis mentioned" "" "26y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282957" "04214" "00389416" "00000" "Familial, autosomal dominant" "66y" "age at genetic diagnosis mentioned" "" "62y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282958" "04214" "00389417" "00000" "Familial, autosomal dominant" "16y" "age at genetic diagnosis mentioned" "" "12y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282966" "04214" "00389425" "00000" "Familial, autosomal dominant" "51y" "age at genetic diagnosis mentioned" "" "47y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282981" "04214" "00389440" "00000" "Familial, autosomal dominant" "37y" "age at genetic diagnosis mentioned" "" "34y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282982" "04214" "00389441" "00000" "Familial, autosomal dominant" "72y" "age at genetic diagnosis mentioned" "" "68y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000282991" "04214" "00389450" "00000" "Familial, autosomal dominant" "44y" "age at genetic diagnosis mentioned" "" "41y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000283001" "04214" "00389460" "00000" "Familial, autosomal recessive" "44y" "age at genetic diagnosis mentioned" "" "40y" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" ""
"0000283002" "04214" "00389461" "00000" "Familial, autosomal dominant" "48y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000283003" "04214" "00389462" "00000" "Familial, autosomal dominant" "18y" "age at genetic diagnosis mentioned" "" "14y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000283011" "04214" "00389470" "00000" "Familial, autosomal dominant" "21y" "age at genetic diagnosis mentioned" "" "19y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000283145" "04214" "00389604" "00000" "Isolated (sporadic)" "42y" "age at genetic diagnosis mentioned" "" "37y" "" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" ""
"0000283194" "04214" "00389653" "00000" "Familial, autosomal dominant" "64y" "age at genetic diagnosis mentioned" "" "59y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000283265" "04214" "00389724" "00000" "Familial, autosomal dominant" "39y" "age at genetic diagnosis mentioned" "" "33y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000283266" "04214" "00389725" "00000" "Familial, autosomal dominant" "63y" "age at genetic diagnosis mentioned" "" "57y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000283267" "04214" "00389726" "00000" "Familial, autosomal dominant" "20y" "age at genetic diagnosis mentioned" "" "14y" "" "" "" "" "" "" "" "cone dystrophy" "" ""
"0000283575" "04214" "00390035" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" ""
"0000284316" "04214" "00390828" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Occult macular dystrophy" ""
"0000284424" "04214" "00390936" "00000" "Unknown" "56y-60y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000284429" "04214" "00390941" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000284649" "04214" "00391207" "00000" "Unknown" "43y" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000284650" "04214" "00391208" "00000" "Unknown" "53y" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000284696" "04214" "00391255" "00000" "Familial, autosomal recessive" "68y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" ""
"0000284700" "04214" "00391259" "00000" "Familial, autosomal recessive" "68y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" ""
"0000284706" "04214" "00391265" "00000" "Familial, autosomal recessive" "52y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" ""
"0000284712" "04214" "00391271" "00000" "Familial, autosomal recessive" "66y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" ""
"0000285814" "04214" "00392567" "00000" "Familial, autosomal recessive" "" "initial diagnosis of isolated (sporadic) retinitis pigmentosa redifined to macular dystrophy" "" "" "" "" "" "" "" "" "" "macular dystrophy" "retinitis pigmentosa" ""
"0000285816" "04214" "00392569" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000285845" "04214" "00392598" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000285893" "04214" "00392646" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286555" "04214" "00393314" "00000" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000286556" "04214" "00393315" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000286591" "04214" "00393350" "00000" "Isolated (sporadic)" "38y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286592" "04214" "00393351" "00000" "Isolated (sporadic)" "46y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286593" "04214" "00393352" "00000" "Isolated (sporadic)" "63y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286594" "04214" "00393353" "00000" "Isolated (sporadic)" "48y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286595" "04214" "00393354" "00000" "Isolated (sporadic)" "55y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286596" "04214" "00393355" "00000" "Isolated (sporadic)" "59y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286597" "04214" "00393356" "00000" "Isolated (sporadic)" "33y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286598" "04214" "00393357" "00000" "Isolated (sporadic)" "30y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286599" "04214" "00393358" "00000" "Isolated (sporadic)" "58y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286600" "04214" "00393359" "00000" "Isolated (sporadic)" "56y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286601" "04214" "00393360" "00000" "Isolated (sporadic)" "74y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286602" "04214" "00393361" "00000" "Isolated (sporadic)" "40y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286603" "04214" "00393362" "00000" "Isolated (sporadic)" "61y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286604" "04214" "00393363" "00000" "Isolated (sporadic)" "59y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286605" "04214" "00393364" "00000" "Isolated (sporadic)" "56y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286606" "04214" "00393365" "00000" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286607" "04214" "00393366" "00000" "Isolated (sporadic)" "5y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286608" "04214" "00393367" "00000" "Isolated (sporadic)" "30y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286609" "04214" "00393368" "00000" "Isolated (sporadic)" "61y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286610" "04214" "00393369" "00000" "Isolated (sporadic)" "55y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286611" "04214" "00393370" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286612" "04214" "00393371" "00000" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286613" "04214" "00393372" "00000" "Isolated (sporadic)" "44y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286614" "04214" "00393373" "00000" "Isolated (sporadic)" "9y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286615" "04214" "00393374" "00000" "Isolated (sporadic)" "41y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286616" "04214" "00393375" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286617" "04214" "00393376" "00000" "Isolated (sporadic)" "37y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286618" "04214" "00393377" "00000" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286619" "04214" "00393378" "00000" "Isolated (sporadic)" "58y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286620" "04214" "00393379" "00000" "Isolated (sporadic)" "60y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286621" "04214" "00393380" "00000" "Isolated (sporadic)" "51y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286622" "04214" "00393381" "00000" "Isolated (sporadic)" "81y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286623" "04214" "00393382" "00000" "Isolated (sporadic)" "62y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286624" "04214" "00393383" "00000" "Isolated (sporadic)" "54y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286625" "04214" "00393384" "00000" "Isolated (sporadic)" "41y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286626" "04214" "00393385" "00000" "Isolated (sporadic)" "59y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286627" "04214" "00393386" "00000" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000287739" "04214" "00394536" "00000" "Familial, autosomal dominant" "80y" "" "19y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" ""
"0000288923" "04214" "00395761" "00000" "Unknown" "44y2m" "" "36y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000289016" "04214" "00395854" "00000" "Unknown" "51y" "" "30y" "" "" "" "" "" "" "" "" "Omacular dystrophy" "" ""
"0000289027" "04214" "00395865" "00000" "Unknown" "19y1m" "" "18y" "" "" "" "" "" "" "" "" "Omacular dystrophy" "" ""
"0000289042" "04214" "00395880" "00000" "Unknown" "13y2m" "" "12y" "" "" "" "" "" "" "" "" "Omacular dystrophy" "" ""
"0000289070" "04214" "00395908" "00000" "Unknown" "55y5m" "" "50y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000289081" "04214" "00395919" "00000" "Unknown" "25y6m" "" "15y" "" "" "" "" "" "" "" "" "Omacular dystrophy" "" ""
"0000289668" "04214" "00396507" "00000" "Familial, autosomal recessive" "31y" "color vision deficienvy" "31y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000289745" "04214" "00396584" "00000" "Isolated (sporadic)" "19y" "constriction of visual field" "12y-18y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000296585" "03367" "00403992" "01164" "Unknown" "09y" "Retinal dystrophy, Abnormality of metabolism/homeostasis, Somatic sensory dysfunction, Deep white matter hypodensities, Periventricular white matter hyperintensities, Optic neuritis" "" "" "" "" "" "" "" "" "" "" "" ""
"0000300558" "04214" "00408442" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000303701" "04214" "00411674" "00000" "Unknown" "81y" "Hypertension; RE: No visual symptoms, BCVA: 1.2; Normal in GP; OCT Abnormality, EZ: blurred parafovea; OCT Abnormality, IZ: disappeared parafovea / LE: Decreased VA: 0.1; Relative central scotoma in GP; OCT Abnormality, EZ: LE: blurred fovea, blurred parafovea; OCT Abnormality, IZ: disappeared parafovea" "50y" "" "Decreased visual acuity (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303702" "04214" "00411675" "00000" "Unknown" "71y" "Diabetes mellitus since 64 years of age" "25y" "" "Decreased visual acuity Bilateral and photophobia" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303703" "04214" "00411676" "00000" "Unknown" "74y" "Hyperlipidemia, angina pectoris" "30y" "" "Decreased visual acuity and photophobia (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303704" "04214" "00411677" "00000" "Unknown" "83y" "Hypertension, Multiple cerebral infarction at 73 years of age" "20y" "" "Decreased visual acuity (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303705" "04214" "00411678" "00000" "Unknown" "60y" "" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303706" "04214" "00411679" "00000" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303707" "04214" "00411680" "00000" "Unknown" "69y" "" "50y" "" "Decreased visual acuity (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303708" "04214" "00411681" "00000" "Unknown" "69y" "Hypertension since 67y; surgery for ossification of the posterior longitudinal ligament at 45y" "28y" "" "Decreased visual acuity and photophobia (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303709" "04214" "00411682" "00000" "Unknown" "66y" "Diabetes mellitus since 63 years of age" "30y" "" "Decreased visual acuity (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303710" "04214" "00411683" "00000" "Unknown" "58y" "Rheumatoid arthritis since 46 years of age, bronchiectasis since 43 years of age" "10y" "" "Decreased visual acuity (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303711" "04214" "00411684" "00000" "Unknown" "57y" "" "47y" "" "Decreased visual acuity (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303712" "04214" "00411685" "00000" "Unknown" "20y" "Atopic dermatitis" "14y" "" "Decreased visual acuity (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303713" "04214" "00411686" "00000" "Unknown" "18y" "" "6y" "" "Decreased visual acuity (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303714" "04214" "00411687" "00000" "Unknown" "28y" "" "18y" "" "Decreased visual acuity and photophobia (bilateral)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303715" "04214" "00411688" "00000" "Familial, autosomal dominant" "36y" "BCVA:1.0 in both eyes (OU) 20y but had deteriorated to 0.4" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303716" "04214" "00411689" "00000" "Familial, autosomal dominant" "70y" "BCVA had decreased to 0.3 (OD) and 0.2 (OS)" "49y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303717" "04214" "00411690" "00000" "Isolated (sporadic)" "52y" "BCVAs were 20/63 in the right eye and 20/50 in the left eye" "" "" "gradual decrease in vision in both eyes" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303718" "04214" "00411691" "00000" "Unknown" "64y" "ath 64y had VA OF 1.0 in both eyes, at 65y VA in the left eye decreased to 0.2, while that in the right eye was 0.7, at 75y, her visual acuity in the right eye decreased to 0.3" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303719" "04214" "00411692" "00000" "Familial, autosomal dominant" "38y" "Laterality: bilateral; VA: (OD)20/200 (OS)20/200" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303720" "04214" "00411693" "00000" "Familial, autosomal dominant" "21y" "Laterality: bilateral; VA: (OD)20/60 (OS)20/60" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303721" "04214" "00411694" "00000" "Familial, autosomal dominant" "8y" "Laterality: bilateral; VA: (OD)20/100 (OS)20/150" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303722" "04214" "00411695" "00000" "Familial, autosomal dominant" "34y" "Laterality: bilateral; VA: (OD)20/200 (OS)20/200" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303723" "04214" "00411696" "00000" "Familial, autosomal dominant" "36y" "Laterality: bilateral; VA: (OD)20/50 (OS)20/40" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303724" "04214" "00411697" "00000" "Familial, autosomal dominant" "19y" "Laterality: bilateral; VA: (OD)20/100 (OS)20/100" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303725" "04214" "00411698" "00000" "Familial, autosomal dominant" "51y" "Laterality: bilateral; VA: (OD)20/200 (OS)20/40" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303726" "04214" "00411699" "00000" "Unknown" "47y" "Laterality: bilateral; VA: (OD)20/40 (OS)20/60" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303727" "04214" "00411700" "00000" "Unknown" "58y" "Laterality: bilateral; VA: (OD)20/200 (OS)20/30" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303728" "04214" "00411701" "00000" "Isolated (sporadic)" "53y" "Laterality: unilateral; VA: (OD)20/20 (OS)20/100" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303729" "04214" "00411702" "00000" "Familial, autosomal dominant" "58y" "BCVA was 0.532 RE and 0.347 LE, and SD-OCT showed subfoveal SRD inboth eyes" "" "" "decreased visual acuity in both eyes" "" "" "" "" "" "" "" "Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment" ""
"0000303730" "04214" "00411703" "00000" "Familial, autosomal dominant" "23y" "a heterogeneous phenotype consisting of different morphologic and functional abnormalities of central cones across the members of the family, see paper" "" "" "" "" "" "" "" "" "" "" "Inherited Macular Dystrophy" ""
"0000303731" "04214" "00411704" "00000" "Isolated (sporadic)" "43y" "BCVA: 20/60 (OD) and 20/60 (OS); Spherical equivalent: -12.00 (OD) and -12.00 (OS)" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303732" "04214" "00411705" "00000" "Isolated (sporadic)" "45y" "BCVA: 20/160 (OD) and 20/125 (OS); Spherical equivalent: -7.25 (OD) and -7.50 (OS)" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303733" "04214" "00411706" "00000" "Isolated (sporadic)" "44y" "BCVA: 20/200 (OD) and 20/100 (OS); Spherical equivalent: -2.75 (OD) and -0.75 (OS)" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303734" "04214" "00411707" "00000" "Familial, autosomal dominant" "67y" "BCVA was ?counting fingers? in both eyes (OU), central relative scotoma in OU" "59y" "" "progressive visual decline" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303735" "04214" "00411708" "00000" "Familial, autosomal dominant" "38y" "BCVA was 0.2 in OU, red?green defect and central relative scotoma in OU" "15y" "" "progressive visual decline, associated with photophobia" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303736" "04214" "00411709" "00000" "Familial, autosomal dominant" "32y" "BCVA was 0.6 in OU" "28y" "" "slow, progressive decline of visual acuity" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303737" "04214" "00411710" "00000" "Isolated (sporadic)" "28y" "VA: 20/200 in both eyes, blurred subfoveal ellipsoid zone, reduced amplitudes at the center of the fovea" "24y" "" "progressively blurred vision in both eyes for 4years" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303738" "04214" "00411711" "00000" "Isolated (sporadic)" "62y" "slowly progressive vision loss in both eyes. BCVA:(both pre-cataract and post-cataract extraction)remained 20/80 RE and 20/100 in LE; over the subsequent 7 years has decreased to 20/400 in RE and counting fingers in LE" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303739" "04214" "00411712" "00000" "Unknown" "19y" "Decreased VA: 0.1; Relative central scotoma in HFA (302); OCT Abnormality, EZ: blurred fovea, blurred parafovea; Slight ring-shaped hyperfluorescence" "11y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303740" "00000" "00411713" "00000" "Unknown" "48y" "No visual symptoms, BCVA: 1.2; Normal in HFA (102); OCT Abnormality, IZ: disappeared parafovea" "" "" "" "" "" "" "" "" "" "" "Asymptomatic" ""
"0000303741" "04214" "00411714" "00000" "Unknown" "68y" "Decreased VA: R 0.3/ L 0.2, photophobia; Relative central scotoma in HFA (302); OCT Abnormality, EZ: blurred fovea, blurred parafovea; OCT Abnormality, IZ: disappeared parafovea; Slight circular hyperfluorescence" "50y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303742" "00000" "00411715" "00000" "Unknown" "50y" "No visual symptoms, BCVA: R 1.0/ L 1.2; Relative paracentral scotoma in HFA (102); OCT Abnormality, EZ: mildly disrupted parafovea; OCT Abnormality, IZ: disappeared parafovea; Slight circular hyperfluorescence" "" "" "" "" "" "" "" "" "" "" "Asymptomatic" ""
"0000303743" "04214" "00411716" "00000" "Unknown" "32y" "Decreased VA: R0.6/ L 0.4; Relative paracentral scotoma in HFA (102); OCT Abnormality, EZ: blurred fovea; OCT Abnormality, IZ: disappeared fovea" "26y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303744" "00000" "00411717" "00000" "Unknown" "62y" "No visual symptoms, BCVA: 1.2; Normal in HFA (102); OCT Abnormality, IZ: disappeared parafovea" "" "" "" "" "" "" "" "" "" "" "Asymptomatic" ""
"0000303745" "04214" "00411718" "00000" "Unknown" "35y" "Reduced VA/photophobia; BCVA: RE 0.52/LE 0.52, central scotoma" "25y" "" "" "" "" "" "" "" "" "" "" ""
"0000303746" "04214" "00411719" "00000" "Familial, autosomal dominant" "17y" "Reduced VA; BCVA: RE 0.7/LE 0.52, central scotoma" "6y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303747" "04214" "00411720" "00000" "Familial, autosomal dominant" "48y" "Reduced VA/photophobia; BCVA: RE 1.05/LE 0.52, central scotoma" "40y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303748" "04214" "00411721" "00000" "Familial, autosomal dominant" "19y" "Reduced VA; BCVA: RE 0.82/LE 0.82, central scotoma" "11y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303749" "04214" "00411722" "00000" "Familial, autosomal dominant" "54y" "Reduced VA/photophobia; BCVA: RE 1/LE 0.82, central scotoma" "37y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303750" "04214" "00411723" "00000" "Familial, autosomal dominant" "48y" "No symptom; BCVA: RE -0.08/LE -0.08No clear scotoma" "48y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303751" "04214" "00411724" "00000" "Familial, autosomal dominant" "18y" "Reduced VA; BCVA: RE 0.9/LE 0.9, central scotoma" "10y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303752" "04214" "00411725" "00000" "Familial, autosomal dominant" "12y" "Reduced VA; BCVA: RE 0.6/LE 0.6, central scotoma" "8y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303753" "04214" "00411726" "00000" "Familial, autosomal dominant" "46y" "Reduced VA; BCVA: RE 0.82/LE 0.82, central scotoma" "10y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303754" "04214" "00411727" "00000" "Familial, autosomal dominant" "43y" "Reduced VA; BCVA: RE 0.82/LE 0.82, central scotoma" "13y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303755" "04214" "00411728" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303756" "04214" "00411729" "00000" "Familial, autosomal dominant" "31y" "Reduced VA; BCVA: RE 0.7/LE 0.7, central scotoma" "23y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303757" "04214" "00411730" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303758" "04214" "00411731" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303759" "04214" "00411732" "00000" "Familial, autosomal dominant" "23y" "Reduced VA/photophobia; BCVA: RE 0.52/LE 0.6, central scotoma" "14y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303760" "04214" "00411733" "00000" "Familial, autosomal dominant" "46y" "Reduced VA/photophobia; BCVA: RE 0.9/LE 0.82, central scotoma" "14y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303761" "04214" "00411734" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303762" "04214" "00411735" "00000" "Unknown" "34y" "Reduced VA; BCVA: RE 1/LE 1, central scotoma" "22y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303763" "04214" "00411736" "00000" "Familial, autosomal dominant" "11y" "Frowning eyes/Poor VA; BCVA: RE 1/LE 1, central scotoma" "2y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303764" "04214" "00411737" "00000" "Familial, autosomal dominant" "24y" "Reduced VA; BCVA: RE 0.52/LE 0.52, central scotoma" "12y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303765" "04214" "00411738" "00000" "Familial, autosomal dominant" "51y" "Reduced VA; BCVA: RE 1/LE 0.15NA" "51y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303766" "04214" "00411739" "00000" "Unknown" "45y" "Reduced VA; BCVA: RE 1.22/LE 1.1, central scotoma" "14y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303767" "04214" "00411740" "00000" "Familial, autosomal dominant" "24y" "Poor VA; BCVA: RE 0.52/LE 0.7, central scotoma" "24y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303768" "04214" "00411741" "00000" "Unknown" "73y" "No symptom; BCVA: RE 0.3/LE 0, central scotoma (RE)/normal (LE)" "73y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303769" "04214" "00411742" "00000" "Unknown" "52y" "Reduced VA/photophobia; BCVA: RE 0.3/LE 0.4No clear scotoma" "47y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303770" "04214" "00411743" "00000" "Familial, autosomal dominant" "30y" "Reduced VA; BCVA: RE 0.6/LE 0.6, central scotoma" "25y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303771" "04214" "00411744" "00000" "Familial, autosomal dominant" "54y" "No symptom; BCVA: RE 0.05/LE 0.22, central scotoma" "54y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303772" "04214" "00411745" "00000" "Familial, autosomal dominant" "58y" "Reduced VA; BCVA: RE 0.7/LE 0.7, central scotoma" "40y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303773" "04214" "00411746" "00000" "Familial, autosomal dominant" "86y" "Reduced VA/photophobia; BCVA: RE 0.7/LE 0.7Glaucomatous scotoma" "50y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303774" "04214" "00411747" "00000" "Unknown" "48y" "Reduced VA/photophobia; BCVA: RE 0.3/LE 0.3, central scotoma" "39y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303775" "04214" "00411748" "00000" "Familial, autosomal dominant" "32y" "Reduced VA/photophobia; BCVA: RE 0.15/LE 0.22No clear scotoma" "26y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303776" "04214" "00411749" "00000" "Familial, autosomal dominant" "62y" "No symptom; BCVA: RE -0.08/LE -0.08No clear scotoma" "62y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303777" "04214" "00411750" "00000" "Familial, autosomal dominant" "63y" "Reduced VA/photophobia; BCVA: RE 0.52/LE 0.52, central scotoma" "50y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303778" "04214" "00411751" "00000" "Familial, autosomal dominant" "36y" "Reduced VA/photophobia; BCVA: RE 0.22/LE 0.4, central scotoma" "13y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303779" "04214" "00411752" "00000" "Familial, autosomal dominant" "36y" "Reduced VA; BCVA: RE 0.3/LE 0.7No clear scotoma" "33y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303780" "04214" "00411753" "00000" "Unknown" "74y" "Reduced VA; BCVA: RE 0.82/LE 0.82, central scotoma" "50y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303781" "04214" "00411754" "00000" "Familial, autosomal dominant" "73y" "Reduced VA/photophobia; BCVA: RE 0.52/LE 0.7, central scotoma" "60y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303782" "04214" "00411755" "00000" "Familial, autosomal dominant" "50y" "Night blindness; BCVA: RE -0.08/LE -0.08No clear scotoma" "50y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303783" "04214" "00411756" "00000" "Familial, autosomal dominant" "54y" "Reduced VA/photophobia; BCVA: RE 1/LE 0.7, central scotoma" "40y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303784" "04214" "00411757" "00000" "Familial, autosomal dominant" "51y" "Reduced VA/photophobia; BCVA: RE 0.7/LE 0.7, central scotoma" "25y" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303785" "04214" "00411758" "00000" "Unknown" "56y" "psoriatic arthritis; blurry vision for 4; bilateral cataract surgery with minimal improvement at 52y. A year after cataract surgery, she was diagnosed with central serous retinopathy(CSR); right ophthalmic artery aneurysm; BCVA: was 20/100; gaps between the ellipsoid zone (EZ) and retinal pigment epithelium (RPE) bilaterally" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303786" "04214" "00411759" "00000" "Unknown" "46y" "significant for decreased vision for the last 20 years; BCVA: 20/50 OD and 20/60 OS; gaps between the ellipsoid zone (EZ) and retinal pigment epithelium (RPE) bilaterally" "" "" "" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303787" "04214" "00411760" "00000" "Unknown" "60y" "photophobia, BCVA: 0.2(OD)/0.1(OS)" "47y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303788" "04214" "00411761" "00000" "Unknown" "88y" "BCVA: 0.2(OD)/0.07(OS)" "20y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303789" "04214" "00411762" "00000" "Unknown" "82y" "reduced VA, BCVA: 0.1(OD)/0.1(OS)" "60y" "" "Photophobia" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303790" "04214" "00411763" "00000" "Unknown" "76y" "photophobia, BCVA: 0.1(OD)/0.1(OS)" "50y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303791" "04214" "00411764" "00000" "Unknown" "54y" "photophobia, BCVA: 0.1(OD)/0.2(OS)" "40y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303792" "04214" "00411765" "00000" "Unknown" "49y" "photophobia, BCVA: 0.3(OD)/0.3(OS)" "37y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303793" "04214" "00411766" "00000" "Unknown" "75y" "photophobia, BCVA: 0.1(OD)/0.08(OS)" "14y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303794" "04214" "00411767" "00000" "Unknown" "35y" "photophobia, BCVA: 0.2(OD)/0.2(OS)" "18y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303795" "04214" "00411768" "00000" "Unknown" "48y" "photophobia, BCVA: 0.1(OD)/0.1(OS)" "38y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303796" "04214" "00411769" "00000" "Unknown" "52y" "photophobia, BCVA: 0.3(OD)/0.2(OS)" "45y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303797" "04214" "00411770" "00000" "Unknown" "34y" "photophobia, BCVA: 0.2(OD)/0.2(OS)" "25y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303798" "04214" "00411771" "00000" "Unknown" "19y" "photophobia, BCVA: 0.15(OD)/0.15(OS)" "7y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303799" "04214" "00411772" "00000" "Unknown" "50y" "reduced VA, BCVA: 0.1(OD)/0.1(OS)" "40y" "" "Photophobia" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303800" "04214" "00411773" "00000" "Unknown" "50y" "photophobia, BCVA: 0.15(OD)/0.15(OS)" "25y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303801" "04214" "00411774" "00000" "Unknown" "34y" "photophobia, BCVA: 0.4(OD)/0.3(OS)" "26y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303802" "04214" "00411775" "00000" "Unknown" "65y" "BCVA: 1.2(OD)/1.2(OS)" "" "" "None" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303803" "04214" "00411776" "00000" "Unknown" "66y" "reduced VA, BCVA: 0.15(OD)/0.15(OS)" "50y" "" "Photophobia" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303804" "04214" "00411777" "00000" "Unknown" "52y" "BCVA: 1(OD)/1(OS)" "" "" "None" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303805" "04214" "00411778" "00000" "Unknown" "21y" "photophobia, BCVA: 0.1(OD)/0.1(OS)" "11y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303806" "04214" "00411779" "00000" "Unknown" "50y" "BCVA: 1(OD)/1.2(OS)" "" "" "None" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303807" "04214" "00411780" "00000" "Unknown" "38y" "BCVA: 0.4(OD)/0.15(OS)" "33y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303808" "04214" "00411781" "00000" "Unknown" "37y" "photophobia, BCVA: 0.5(OD)/0.5(OS)" "13y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303809" "04214" "00411782" "00000" "Unknown" "70y" "photophobia, BCVA: 0.1(OD)/0.1(OS)" "21y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303810" "04214" "00411783" "00000" "Unknown" "69y" "photophobia, BCVA: 0.4(OD)/0.3(OS)" "60y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303811" "04214" "00411784" "00000" "Unknown" "45y" "photophobia, BCVA: 0.3(OD)/0.2(OS)" "30y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303812" "04214" "00411785" "00000" "Unknown" "55y" "photophobia, BCVA: 0.1(OD)/0.1(OS)" "37y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303813" "04214" "00411786" "00000" "Unknown" "48y" "photophobia, BCVA: 0.3(OD)/0.2(OS)" "40y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303814" "04214" "00411787" "00000" "Unknown" "49y" "BCVA: 1.5(OD)/1.5(OS)" "" "" "None" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303815" "04214" "00411788" "00000" "Unknown" "74y" "photophobia, BCVA: 0.2(OD)/0.3(OS)" "30y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303816" "04214" "00411789" "00000" "Unknown" "81y" "BCVA: 1.2(OD)/0.1(OS)" "50y" "" "OS: Reduced VA OD: None" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303817" "04214" "00411790" "00000" "Unknown" "57y" "BCVA: 0.1(OD)/0.4(OS)" "40y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303818" "04214" "00411791" "00000" "Unknown" "58y" "BCVA: 0.2(OD)/0.15(OS)" "10y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303819" "04214" "00411792" "00000" "Unknown" "18y" "BCVA: 0.15(OD)/0.15(OS)" "6y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303820" "04214" "00411793" "00000" "Unknown" "83y" "BCVA: 0.15(OD)/0.15(OS)" "20y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303821" "04214" "00411794" "00000" "Unknown" "21y" "BCVA: 0.3(OD)/0.3(OS)" "13y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303822" "04214" "00411795" "00000" "Unknown" "66y" "BCVA: 0.2(OD)/0.3(OS)" "30y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303823" "04214" "00411796" "00000" "Unknown" "71y" "photophobia, BCVA: 0.3(OD)/0.3(OS)" "25y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303824" "04214" "00411797" "00000" "Unknown" "70y" "photophobia, BCVA: 0.2(OD)/0.15(OS)" "18y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303825" "04214" "00411798" "00000" "Unknown" "69y" "photophobia, BCVA: 0.1(OD)/0.08(OS)" "40y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303826" "04214" "00411799" "00000" "Unknown" "43y" "BCVA: 0.3(OD)/0.4(OS)" "28y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303827" "04214" "00411800" "00000" "Unknown" "70y" "BCVA: 0.1(OD)/0.2(OS)" "60y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303828" "04214" "00411801" "00000" "Unknown" "62y" "BCVA: 0.15(OD)/0.15(OS)" "58y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303829" "04214" "00411802" "00000" "Unknown" "25y" "color vision abnormality, BCVA: 0.2(OD)/0.2(OS)" "19y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303830" "04214" "00411803" "00000" "Unknown" "52y" "BCVA: 0.1(OD)/0.15(OS)" "12y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303831" "04214" "00411804" "00000" "Unknown" "15y" "BCVA: 0.2(OD)/0.2(OS)" "8y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303832" "04214" "00411805" "00000" "Unknown" "52y" "BCVA: 0.3(OD)/0.6(OS)" "42y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303833" "04214" "00411806" "00000" "Unknown" "62y" "BCVA: 0.5(OD)/0.3(OS)" "40y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303834" "04214" "00411807" "00000" "Unknown" "49y" "BCVA: 0.16(OD)/0.16(OS)" "20y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303835" "04214" "00411808" "00000" "Unknown" "48y" "BCVA: 0.2(OD)/0.2(OS)" "39y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303836" "04214" "00411809" "00000" "Unknown" "40y" "reduced VA, BCVA: 0.4(OD)/0.5(OS)" "38y" "" "Photophobia" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303837" "04214" "00411810" "00000" "Unknown" "12y" "BCVA: 0.1(OD)/0.1(OS)" "3y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303838" "04214" "00411811" "00000" "Unknown" "49y" "reduced VA, BCVA: 0.3(OD)/0.25(OS)" "20y" "" "Photophobia" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303839" "04214" "00411812" "00000" "Unknown" "10y" "BCVA: 0.7(OD)/0.6(OS)" "8y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303840" "04214" "00411813" "00000" "Unknown" "47y" "BCVA: 0.6(OD)/0.7(OS)" "37y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303841" "04214" "00411814" "00000" "Unknown" "42y" "BCVA: 1(OD)/0.4(OS)" "41y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303842" "04214" "00411815" "00000" "Unknown" "47y" "BCVA: 0.2(OD)/0.2(OS)" "41y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303843" "04214" "00411816" "00000" "Unknown" "50y" "BCVA: 0.3(OD)/0.2(OS)" "35y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303844" "04214" "00411817" "00000" "Unknown" "83y" "BCVA: 0.15(OD)/0.15(OS)" "17y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303845" "04214" "00411818" "00000" "Unknown" "70y" "BCVA: 0.3(OD)/0.2(OS)" "33y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303846" "04214" "00411819" "00000" "Unknown" "43y" "BCVA: 0.4(OD)/0.4(OS)" "21y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303847" "04214" "00411820" "00000" "Unknown" "57y" "BCVA: 0.2(OD)/0.2(OS)" "50y" "" "Reduced VA" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303848" "04214" "00411821" "00000" "Familial, autosomal dominant" "37y" "BCVA: 1.0(OD)/0.4(OS), macular edema, CME in both eyes, petaloid leakage at the fovea in both eyes" "37y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303849" "04214" "00411822" "00000" "Familial, autosomal dominant" "39y" "BCVA: 0.2(OD)/0.6(OS), macular edema, CME in both eyes, petaloid leakage at the fovea in both eyes" "34y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303850" "04214" "00411823" "00000" "Isolated (sporadic)" "14y" "BCVA: 0.3/0.3, red-green-deficiency, central scotoma, thickness of outer nuclear layer (?m): 84/96, thickness of photoreceptor (?m):62/62, thickness of central fovea (?m):177/183" "12y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303851" "04214" "00411824" "00000" "Isolated (sporadic)" "27y" "BCVA: 0.4/0.5, photophobia, thickness of outer nuclear layer (?m): 101/96, thickness of photoreceptor (?m):60/73, thickness of central fovea (?m):181/188" "25y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303852" "04214" "00411825" "00000" "Familial, autosomal dominant" "39y" "BCVA: 0.4/0.05, photophobia, central scotoma, thickness of outer nuclear layer (?m): 119/117, thickness of photoreceptor (?m):70/61, thickness of central fovea (?m):207/203" "37y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303853" "04214" "00411826" "00000" "Familial, autosomal dominant" "18y" "BCVA: 0.15/0.2, red-green-deficiency, central scotoma, thickness of outer nuclear layer (?m): 103/111, thickness of photoreceptor (?m):60/62, thickness of central fovea (?m):197/196" "15y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303854" "04214" "00411827" "00000" "Familial, autosomal dominant" "16y" "BCVA: 0.1/0.1, red-green-deficiency, central scotoma, thickness of outer nuclear layer (?m): 98/98, thickness of photoreceptor (?m):65/59, thickness of central fovea (?m):176/181" "6y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303855" "04214" "00411828" "00000" "Isolated (sporadic)" "15y" "BCVA: 0.2/0.25, photophobia, central scotoma, thickness of outer nuclear layer (?m): 88/101, thickness of photoreceptor (?m):70/70, thickness of central fovea (?m):179/182" "12y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303856" "04214" "00411829" "00000" "Familial, autosomal dominant" "38y" "BCVA: 0.5/0.5, thickness of outer nuclear layer (?m): 70/90, thickness of photoreceptor (?m):65/70, thickness of central fovea (?m):158/172" "28y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303857" "04214" "00411830" "00000" "Isolated (sporadic)" "55y" "BCVA: 0.05/0.04, photophobia, red-green-deficiency, central scotoma, thickness of outer nuclear layer (?m): 74/80, thickness of photoreceptor (?m):61/63, thickness of central fovea (?m):196/192" "51y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303858" "04214" "00411831" "00000" "Familial, autosomal dominant" "48y" "BCVA: 0.09/0.1, photophobia, red-green-deficiency, central scotoma, thickness of outer nuclear layer (?m): 80/83, thickness of photoreceptor (?m):57/62, thickness of central fovea (?m):168/173" "44y" "" "" "" "" "" "" "" "" "" "Dominant cystoid macular dystrophy (DCMD)" ""
"0000303859" "04214" "00411832" "00000" "Familial, autosomal dominant" "51y" "BCVA: 20/32 LE and 20/40 RE, myopic changes such as a tilted disc, peripapillary chorioretinal atrophy (PPA), and translucent choroidal vessels with optic nerve pallor but no macular abnormality" "" "" "developed mild visual impairment in both eyes" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000303860" "04214" "00411833" "00000" "Familial, autosomal dominant" "27y" "BCVA of 20/50 in both eyes with refractive errors of ?0.75D cylinder of axis 180 in the RE and +0.25D sphere in the LE, relative central scotoma in both eyes" "" "" "visual impairment (congenital color blindness)" "" "" "" "" "" "" "" "occult macular dystrophy (OMD)" ""
"0000306240" "00198" "00414405" "00000" "Familial, autosomal dominant" "29y" "" "" "" "" "" "" "" "" "" "" "Occult Macular Dystrophy" "" ""
"0000308017" "00198" "00416250" "00006" "Unknown" "05y09m" "microcephaly (−2.5 SD), atrial septal defect, patent ductus arteriosus,\r\nsubmucous cleft palate with bifid uvula, dysmorphic features including\r\nepicanthic folds, small nose, small mouth" "00y01m" "" "" "" "" "" "" "" "" "" "" ""
"0000311003" "04214" "00419723" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000311637" "04214" "00420389" "00000" "Familial, autosomal dominant" "51y" "" "30y" "" "" "" "" "" "" "" "" "occult macular dystrophy" "" ""
"0000311644" "04214" "00420396" "00000" "Familial, autosomal dominant" "25y6m" "" "15y" "" "" "" "" "" "" "" "" "occult macular dystrophy" "" ""
"0000311686" "04214" "00420438" "00000" "Familial, autosomal recessive" "55y5m" "" "50y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000311723" "04214" "00420475" "00000" "Familial, autosomal dominant" "13y2m" "" "12y" "" "" "" "" "" "" "" "" "occult macular dystrophy" "" ""
"0000311725" "04214" "00420477" "00000" "Familial, autosomal recessive" "44y2m" "" "36y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000311739" "04214" "00420491" "00000" "Familial, autosomal dominant" "19y1m" "" "18y" "" "" "" "" "" "" "" "" "occult macular dystrophy" "" ""
"0000311842" "04214" "00420594" "00000" "Familial, autosomal recessive" "39y" "complaints of disturbance in the central vision in both eyes, for a duration of 6 months in right eye and 2 months in left eye; symptoms: insidious in onset and progressive in nature; no systemic illnesses; no family history of retinal disease; best corrected visual acuity: 20/20, anterior segment: normal in both eyes; color vision test with Ishihara’s charts: normal; fundus: both eyes ill-defined grayish mottling at the fovea with loss of foveolar reflex; spectral domain optical coherence tomography: hyper-reflective subretinal deposits at fovea, with intraretinal extension up to the outer plexiform layer causing disruptions of retinal pigment epithelium, photoreceptor layer and ellipsoid zone; fundus autofluorescence: hyper-autofluorescence corresponding to the sub-foveal deposits in both eyes suggestive of vitelliform material; fluorescein angiography: central hypofluorescence at the fovea with surrounding hyperfluorescence in the early phase in both eyes, increase in intensity due to staining in the latphase without any evidence of leakage; visual field analysis: normal; electrophysiological studies 3D photography in an multifocal electroretinography: normal foveal peaks in both eyes; response curves in the multifocal electroretinography: normal foveal responses and normal amplitude density, normal N1 implicit times; full-field electroretinograms: normal in dark adaptation (DA)0.01, DA3.0and DA10.0, subnormal in light adaptation (LA)3.0 and LA 30 Hz flicker, indicating mild cone dysfunction; electroretinography photopic amplitude was 25.62 uV in the right eye and 22.09 uV in the left eye with implicit times of 30.8 ms and 31.2 ms \',respectively; flicker amplitudes in the right eye: 25.71 uV with an implicit time of 64.3 ms and in the left eye 22.92 uV with an implicit time of 63.3 ms (with the corresponding normal age and gender-matched values of photopic electroretinogram: 108.8 uV amplitude, 29.16 ms implicit time in the right eye and 102.68 uV amplitude and 29.16 ms implicit time in left eye; flicker amplitudes: 36.3 uV with 63.0 ms implicit time in the right eye and 36.47 uV with 63.0 ms implicit time in the left eye); electrooculography: Arden ratios of 2.60 in the right eye and 2.38 in the left eye; systemic evaluation including a complete blood profile, infectious and inflammatory markers, Mantoux test and Chest-X ray ruled out any inflammatory and infectious causes" "39y" "" "" "" "" "" "" "" "" "occult macular dystrophy" "" ""
"0000318082" "04214" "00426944" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" ""
"0000320382" "00112" "00429510" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320444" "00112" "00429572" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320514" "00112" "00429642" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320645" "00112" "00429773" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320752" "00112" "00429880" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320767" "00112" "00429895" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000336124" "00198" "00446925" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" ""
"0000336164" "00198" "00446965" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336190" "00198" "00446991" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336200" "00198" "00447001" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336298" "00198" "00447099" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336304" "00198" "00447105" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336346" "00198" "00447147" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336348" "00198" "00447149" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336349" "00198" "00447150" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336366" "00198" "00447167" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336377" "00198" "00447178" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336413" "00198" "00447214" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" ""
"0000336466" "00198" "00447267" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336501" "00198" "00447302" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336521" "00198" "00447322" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336529" "00198" "00447330" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336541" "00198" "00447342" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336544" "00198" "00447345" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336570" "00198" "00447371" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336591" "00198" "00447392" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336664" "00198" "00447465" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" ""
"0000336685" "00198" "00447486" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336759" "00198" "00447560" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336808" "00198" "00447609" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336824" "00198" "00447625" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336834" "00198" "00447635" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" ""
"0000336857" "00198" "00447658" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Best vitelliform macular dystrophy" ""
"0000336880" "00198" "00447681" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336888" "00198" "00447689" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinoschisis" ""
"0000337197" "04214" "00448008" "00006" "Familial, autosomal recessive" "50y" "see paper; ..., night blindness" "" "" "" "" "" "" "" "" "" "" "night blindness" ""
"0000339700" "04249" "00450645" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340041" "04249" "00450986" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340042" "04249" "00450987" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340043" "04249" "00450988" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340044" "04249" "00450989" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340045" "04249" "00450990" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340046" "04249" "00450991" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340047" "04249" "00450992" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340048" "04249" "00450993" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340049" "04249" "00450994" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000340050" "04249" "00450995" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal pigment epithelium dystrophy-BEM" ""
"0000340051" "04249" "00450996" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340052" "04249" "00450997" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000340053" "04249" "00450998" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340054" "04249" "00450999" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000340055" "04249" "00451000" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000340056" "04249" "00451001" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 578
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000059784" "00059797" "1" "00237" "00237" "2012-11-06 18:24:59" "" "" "SEQ" "DNA" "" ""
"0000060088" "00060101" "1" "00237" "00237" "2012-10-29 12:54:02" "" "" "SEQ" "DNA" "" ""
"0000060089" "00060102" "1" "00237" "00237" "2012-10-29 12:54:02" "" "" "SEQ" "DNA" "" ""
"0000060090" "00060103" "1" "00237" "00237" "2012-10-29 12:23:01" "" "" "SEQ" "DNA" "" ""
"0000060091" "00060104" "1" "00237" "00237" "2012-10-29 12:26:00" "" "" "SEQ" "DNA" "" ""
"0000060092" "00060105" "1" "00237" "00237" "2012-10-29 12:41:02" "" "" "SEQ" "DNA" "" ""
"0000060093" "00060106" "1" "00237" "00237" "2012-10-29 12:43:15" "" "" "SEQ" "DNA" "" ""
"0000060094" "00060107" "1" "00237" "00237" "2012-10-29 12:46:44" "" "" "SEQ" "DNA" "" ""
"0000060095" "00060108" "1" "00237" "00237" "2012-10-29 12:48:36" "" "" "SEQ" "DNA" "" ""
"0000060096" "00060109" "1" "00237" "00237" "2012-10-29 12:50:20" "" "" "SEQ" "DNA" "" ""
"0000060097" "00060110" "1" "00237" "00237" "2012-10-29 12:52:03" "" "" "SEQ" "DNA" "" ""
"0000060098" "00060111" "1" "00237" "00237" "2012-11-06 18:16:10" "" "" "SEQ" "DNA" "" ""
"0000060099" "00060112" "1" "00237" "00237" "2012-11-06 18:18:16" "" "" "SEQ" "DNA" "" ""
"0000060100" "00060113" "1" "00237" "00237" "2012-11-06 18:20:08" "" "" "SEQ" "DNA" "" ""
"0000060101" "00060114" "1" "00237" "00237" "2012-11-06 18:22:31" "" "" "SEQ" "DNA" "" ""
"0000060102" "00060115" "1" "00237" "00237" "2012-11-06 18:26:34" "" "" "SEQ" "DNA" "" ""
"0000060103" "00060116" "1" "00237" "00237" "2012-11-06 18:29:57" "" "" "SEQ" "DNA" "" ""
"0000060104" "00060117" "1" "00237" "00237" "2012-11-06 18:34:38" "" "" "SEQ" "DNA" "" ""
"0000060202" "00060215" "1" "01251" "01251" "2015-01-19 14:58:04" "00006" "2016-04-16 16:28:10" "SEQ-NG-S" "DNA" "" ""
"0000145015" "00144156" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000177888" "00176997" "1" "02552" "02552" "2018-08-15 12:31:12" "" "" "SEQ-NG-I" "DNA" "" ""
"0000234015" "00232916" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234016" "00232917" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234017" "00232918" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234018" "00232919" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234019" "00232920" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234020" "00232921" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234021" "00232922" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234022" "00232923" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234023" "00232924" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234024" "00232925" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234025" "00232926" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234026" "00232927" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234027" "00232928" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234028" "00232929" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234029" "00232930" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234030" "00232931" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234031" "00232932" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234032" "00232933" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234033" "00232934" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234034" "00232935" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234035" "00232936" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234036" "00232937" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234037" "00232938" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234038" "00232939" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234039" "00232940" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234040" "00232941" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234041" "00232942" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234042" "00232943" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234043" "00232944" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234044" "00232945" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234045" "00232946" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234046" "00232947" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234047" "00232948" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234048" "00232949" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234049" "00232950" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234050" "00232951" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234051" "00232952" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234052" "00232953" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234053" "00232954" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234054" "00232955" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234055" "00232956" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234056" "00232957" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234057" "00232958" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234058" "00232959" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234059" "00232960" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234060" "00232961" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234061" "00232962" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234062" "00232963" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234063" "00232964" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234064" "00232965" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234065" "00232966" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234066" "00232967" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234067" "00232968" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234068" "00232969" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234069" "00232970" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234070" "00232971" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234071" "00232972" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234072" "00232973" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234073" "00232974" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234074" "00232975" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234075" "00232976" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234076" "00232977" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234077" "00232978" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234078" "00232979" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234079" "00232980" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234080" "00232981" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234081" "00232982" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234082" "00232983" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234083" "00232984" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234084" "00232985" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234085" "00232986" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234086" "00232987" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234087" "00232988" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234088" "00232989" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234089" "00232990" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234090" "00232991" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234091" "00232992" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234092" "00232993" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234093" "00232994" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234094" "00232995" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234095" "00232996" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234096" "00232997" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234097" "00232998" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234098" "00232999" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234099" "00233000" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234100" "00233001" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234101" "00233002" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234102" "00233003" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234103" "00233004" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234104" "00233005" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234105" "00233006" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234106" "00233007" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234107" "00233008" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234108" "00233009" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234109" "00233010" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234110" "00233011" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234111" "00233012" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234112" "00233013" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234113" "00233014" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234114" "00233015" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234115" "00233016" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234116" "00233017" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234117" "00233018" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234118" "00233019" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234119" "00233020" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234120" "00233021" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234121" "00233022" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234122" "00233023" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234123" "00233024" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234124" "00233025" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234125" "00233026" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234126" "00233027" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234127" "00233028" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234128" "00233029" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234129" "00233030" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234130" "00233031" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234131" "00233032" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234132" "00233033" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234133" "00233034" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234134" "00233035" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234135" "00233036" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234136" "00233037" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234137" "00233038" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234828" "00233729" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234829" "00233730" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234830" "00233731" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234831" "00233732" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234832" "00233733" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234833" "00233734" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234834" "00233735" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234835" "00233736" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234836" "00233737" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234837" "00233738" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234838" "00233739" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234839" "00233740" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234840" "00233741" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234841" "00233742" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234842" "00233743" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234843" "00233744" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234844" "00233745" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234845" "00233746" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234846" "00233747" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234847" "00233748" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234848" "00233749" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234849" "00233750" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234850" "00233751" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234851" "00233752" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234852" "00233753" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234853" "00233754" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000246883" "00245771" "1" "02591" "02591" "2019-07-08 14:44:25" "" "" "SEQ-NG" "DNA" "" ""
"0000295709" "00294541" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295710" "00294542" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295712" "00294544" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295713" "00294545" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000302796" "00301671" "1" "01807" "01807" "2020-05-20 08:54:01" "" "" "SEQ" "DNA" "" ""
"0000306303" "00305174" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000309800" "00308655" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000309868" "00308723" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES"
"0000332508" "00331288" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel"
"0000333262" "00332043" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333263" "00332044" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333420" "00332200" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333432" "00332212" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333433" "00332213" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333732" "00332508" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" ""
"0000334581" "00333356" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000334613" "00333388" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000359982" "00358752" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ" "DNA" "" ""
"0000359983" "00358753" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ" "DNA" "" ""
"0000359984" "00358754" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ" "DNA" "" ""
"0000359985" "00358755" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ" "DNA" "" ""
"0000359986" "00358756" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359987" "00358757" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359988" "00358758" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359989" "00358759" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359990" "00358760" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359991" "00358761" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359993" "00358763" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359994" "00358764" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359996" "00358766" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359997" "00358767" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359998" "00358768" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000359999" "00358769" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360001" "00358771" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360005" "00358775" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360006" "00358776" "1" "00000" "00006" "2021-03-11 17:30:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360219" "00358982" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363233" "00362005" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363237" "00362009" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363456" "00362227" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" ""
"0000364124" "00362896" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364129" "00362901" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364130" "00362902" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364948" "00363720" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373901" "00372669" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373913" "00372681" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373972" "00372740" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000374699" "00373464" "1" "00006" "00006" "2021-05-14 15:56:17" "" "" "SEQ;SEQ-NG" "DNA" "" "123-gene panel"
"0000376506" "00375309" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376507" "00375310" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376508" "00375311" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376509" "00375312" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376510" "00375313" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376511" "00375314" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376538" "00375341" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000376616" "00375419" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376617" "00375420" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376619" "00375422" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376626" "00375429" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000377511" "00376315" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" ""
"0000379158" "00377954" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" ""
"0000380862" "00379662" "1" "03508" "03508" "2021-08-06 08:04:04" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381308" "00380107" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000384726" "00383501" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000384876" "00383651" "1" "00000" "03840" "2021-09-29 12:16:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "Whole exome sequencing"
"0000385339" "00384114" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385800" "00384574" "1" "00000" "03840" "2021-09-30 10:23:17" "" "" "arraySNP;SEQ-NG" "DNA" "blood" "WES"
"0000387396" "00386167" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387399" "00386170" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387401" "00386172" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387403" "00386174" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387448" "00386219" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387451" "00386222" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387482" "00386253" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000388841" "00387615" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;PCR" "DNA" "" ""
"0000388842" "00387616" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;PCR" "DNA" "" ""
"0000388843" "00387617" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;PCR" "DNA" "" ""
"0000388844" "00387618" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;PCR" "DNA" "" ""
"0000388890" "00387664" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000389743" "00388502" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing"
"0000390193" "00388950" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390194" "00388951" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper"
"0000390327" "00389084" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper"
"0000390437" "00389194" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000390571" "00389328" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper"
"0000390604" "00389361" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000390608" "00389365" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper"
"0000390609" "00389366" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000390610" "00389367" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390611" "00389368" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390612" "00389369" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390613" "00389370" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390614" "00389371" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390633" "00389390" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper"
"0000390659" "00389416" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper"
"0000390660" "00389417" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390668" "00389425" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper"
"0000390683" "00389440" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper"
"0000390684" "00389441" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390693" "00389450" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper"
"0000390703" "00389460" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper"
"0000390704" "00389461" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper"
"0000390705" "00389462" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390713" "00389470" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000390847" "00389604" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper"
"0000390896" "00389653" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper"
"0000390967" "00389724" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper"
"0000390968" "00389725" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390969" "00389726" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000391276" "00390035" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing"
"0000392069" "00390828" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "?" "DNA" "" ""
"0000392177" "00390936" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392182" "00390941" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392449" "00391207" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing"
"0000392450" "00391208" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing"
"0000392497" "00391255" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study"
"0000392501" "00391259" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study"
"0000392507" "00391265" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study"
"0000392513" "00391271" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study"
"0000393814" "00392567" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393816" "00392569" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393845" "00392598" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393893" "00392646" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000394562" "00393314" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394563" "00393315" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394598" "00393350" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394599" "00393351" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394600" "00393352" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394601" "00393353" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394602" "00393354" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394603" "00393355" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394604" "00393356" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394605" "00393357" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394606" "00393358" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394607" "00393359" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394608" "00393360" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394609" "00393361" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394610" "00393362" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394611" "00393363" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394612" "00393364" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394613" "00393365" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394614" "00393366" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394615" "00393367" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394616" "00393368" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394617" "00393369" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394618" "00393370" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394619" "00393371" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394620" "00393372" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394621" "00393373" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394622" "00393374" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394623" "00393375" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394624" "00393376" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394625" "00393377" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394626" "00393378" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394627" "00393379" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394628" "00393380" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394629" "00393381" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394630" "00393382" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394631" "00393383" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394632" "00393384" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394633" "00393385" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394634" "00393386" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000395783" "00394536" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" ""
"0000397000" "00395761" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397093" "00395854" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397104" "00395865" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397119" "00395880" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397147" "00395908" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397158" "00395919" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397750" "00396507" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000397827" "00396584" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000405231" "00403992" "1" "01164" "01164" "2022-02-25 14:04:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000409699" "00408442" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel"
"0000412946" "00411674" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412947" "00411675" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412948" "00411676" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412949" "00411677" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412950" "00411678" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412951" "00411679" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412952" "00411680" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412953" "00411681" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412954" "00411682" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412955" "00411683" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412956" "00411684" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412957" "00411685" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412958" "00411686" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412959" "00411687" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412960" "00411688" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "venous blood" ""
"0000412961" "00411689" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "venous blood" ""
"0000412962" "00411690" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "peripheral white blood cells" ""
"0000412963" "00411691" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000412964" "00411692" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412965" "00411693" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412966" "00411694" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412967" "00411695" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412968" "00411696" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412969" "00411697" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412970" "00411698" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412971" "00411699" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412972" "00411700" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412973" "00411701" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412974" "00411702" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412975" "00411703" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" ""
"0000412976" "00411704" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "peripheral white blood cells" ""
"0000412977" "00411705" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412978" "00411706" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412979" "00411707" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412980" "00411708" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412981" "00411709" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000412982" "00411710" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000412983" "00411711" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000412984" "00411712" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412985" "00411713" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412986" "00411714" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412987" "00411715" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412988" "00411716" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412989" "00411717" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412990" "00411718" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412991" "00411719" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412992" "00411720" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412993" "00411721" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412994" "00411722" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412995" "00411723" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000412996" "00411724" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000412997" "00411725" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000412998" "00411726" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000412999" "00411727" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413000" "00411728" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413001" "00411729" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413002" "00411730" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413003" "00411731" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413004" "00411732" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413005" "00411733" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413006" "00411734" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413007" "00411735" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413008" "00411736" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413009" "00411737" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413010" "00411738" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413011" "00411739" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413012" "00411740" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413013" "00411741" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413014" "00411742" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413015" "00411743" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413016" "00411744" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413017" "00411745" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413018" "00411746" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413019" "00411747" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413020" "00411748" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413021" "00411749" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413022" "00411750" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413023" "00411751" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413024" "00411752" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413025" "00411753" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ" "DNA" "" ""
"0000413026" "00411754" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413027" "00411755" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413028" "00411756" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413029" "00411757" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG" "DNA" "" ""
"0000413030" "00411758" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "WES"
"0000413031" "00411759" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" "WES"
"0000413032" "00411760" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413033" "00411761" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413034" "00411762" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413035" "00411763" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413036" "00411764" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413037" "00411765" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413038" "00411766" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413039" "00411767" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413040" "00411768" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413041" "00411769" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413042" "00411770" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413043" "00411771" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413044" "00411772" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413045" "00411773" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413046" "00411774" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413047" "00411775" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413048" "00411776" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413049" "00411777" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413050" "00411778" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413051" "00411779" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413052" "00411780" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413053" "00411781" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413054" "00411782" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413055" "00411783" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413056" "00411784" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413057" "00411785" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413058" "00411786" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413059" "00411787" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413060" "00411788" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413061" "00411789" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413062" "00411790" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413063" "00411791" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413064" "00411792" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413065" "00411793" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413066" "00411794" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413067" "00411795" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413068" "00411796" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413069" "00411797" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413070" "00411798" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413071" "00411799" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413072" "00411800" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413073" "00411801" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413074" "00411802" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413075" "00411803" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413076" "00411804" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413077" "00411805" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413078" "00411806" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413079" "00411807" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413080" "00411808" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413081" "00411809" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413082" "00411810" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413083" "00411811" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413084" "00411812" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413085" "00411813" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413086" "00411814" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413087" "00411815" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413088" "00411816" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413089" "00411817" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413090" "00411818" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413091" "00411819" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413092" "00411820" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "?" "DNA" "" ""
"0000413093" "00411821" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413094" "00411822" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413095" "00411823" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413096" "00411824" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413097" "00411825" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413098" "00411826" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413099" "00411827" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413100" "00411828" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413101" "00411829" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413102" "00411830" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413103" "00411831" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413104" "00411832" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000413105" "00411833" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000415685" "00414405" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000417530" "00416250" "1" "00006" "00006" "2022-08-25 21:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000421028" "00419723" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000421186" "00419881" "1" "00006" "00006" "2022-10-24 14:56:25" "00006" "2022-10-24 15:12:40" "SEQ;SEQ-ON;SEQ-NG" "DNA" "" "gene panel"
"0000421698" "00420389" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421705" "00420396" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421747" "00420438" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421784" "00420475" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421786" "00420477" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421800" "00420491" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421903" "00420594" "1" "00000" "03840" "2022-11-02 11:58:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000428264" "00426944" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000430923" "00429510" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000430985" "00429572" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431055" "00429642" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431186" "00429773" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431293" "00429880" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431308" "00429895" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431953" "00430544" "1" "04333" "04333" "2023-01-22 10:37:10" "" "" "MIP" "DNA" "" ""
"0000448502" "00446925" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448542" "00446965" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448568" "00446991" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448578" "00447001" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448676" "00447099" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448682" "00447105" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448724" "00447147" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448726" "00447149" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448727" "00447150" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448744" "00447167" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448755" "00447178" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448791" "00447214" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448844" "00447267" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448879" "00447302" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448899" "00447322" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448907" "00447330" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448919" "00447342" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448922" "00447345" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448948" "00447371" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448969" "00447392" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449042" "00447465" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449063" "00447486" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449137" "00447560" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449186" "00447609" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449202" "00447625" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449212" "00447635" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449235" "00447658" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449258" "00447681" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449266" "00447689" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449581" "00448008" "1" "00006" "00006" "2024-02-09 14:42:26" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000452243" "00450645" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452584" "00450986" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452585" "00450987" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452586" "00450988" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452587" "00450989" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452588" "00450990" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452589" "00450991" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452590" "00450992" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452591" "00450993" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452592" "00450994" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452593" "00450995" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452594" "00450996" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452595" "00450997" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452596" "00450998" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452597" "00450999" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452598" "00451000" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452599" "00451001" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452693" "00451094" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452715" "00451116" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452804" "00451205" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452874" "00451275" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452898" "00451299" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452902" "00451303" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452929" "00451330" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452939" "00451340" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 498
"{{screeningid}}" "{{geneid}}"
"0000059784" "RP1L1"
"0000060088" "RP1L1"
"0000060089" "RP1L1"
"0000060090" "RP1L1"
"0000060091" "RP1L1"
"0000060092" "RP1L1"
"0000060093" "RP1L1"
"0000060094" "RP1L1"
"0000060095" "RP1L1"
"0000060096" "RP1L1"
"0000060097" "RP1L1"
"0000060098" "RP1L1"
"0000060099" "RP1L1"
"0000060100" "RP1L1"
"0000060101" "RP1L1"
"0000060102" "RP1L1"
"0000060103" "RP1L1"
"0000060104" "RP1L1"
"0000060202" "C2orf71"
"0000060202" "RP1L1"
"0000145015" "EYS"
"0000234015" "RP1L1"
"0000234016" "RP1L1"
"0000234017" "RP1L1"
"0000234018" "RP1L1"
"0000234019" "RP1L1"
"0000234020" "RP1L1"
"0000234021" "RP1L1"
"0000234022" "RP1L1"
"0000234023" "RP1L1"
"0000234024" "RP1L1"
"0000234025" "RP1L1"
"0000234026" "RP1L1"
"0000234027" "RP1L1"
"0000234028" "RP1L1"
"0000234029" "RP1L1"
"0000234030" "RP1L1"
"0000234031" "RP1L1"
"0000234032" "RP1L1"
"0000234033" "RP1L1"
"0000234034" "RP1L1"
"0000234035" "RP1L1"
"0000234036" "RP1L1"
"0000234037" "RP1L1"
"0000234038" "RP1L1"
"0000234039" "RP1L1"
"0000234040" "RP1L1"
"0000234041" "RP1L1"
"0000234042" "RP1L1"
"0000234043" "RP1L1"
"0000234044" "RP1L1"
"0000234045" "RP1L1"
"0000234046" "RP1L1"
"0000234047" "RP1L1"
"0000234048" "RP1L1"
"0000234049" "RP1L1"
"0000234050" "RP1L1"
"0000234051" "RP1L1"
"0000234052" "RP1L1"
"0000234053" "RP1L1"
"0000234054" "RP1L1"
"0000234055" "RP1L1"
"0000234056" "RP1L1"
"0000234057" "RP1L1"
"0000234058" "RP1L1"
"0000234059" "RP1L1"
"0000234060" "RP1L1"
"0000234061" "RP1L1"
"0000234062" "RP1L1"
"0000234063" "RP1L1"
"0000234064" "RP1L1"
"0000234065" "RP1L1"
"0000234066" "RP1L1"
"0000234067" "RP1L1"
"0000234068" "RP1L1"
"0000234069" "RP1L1"
"0000234070" "RP1L1"
"0000234071" "RP1L1"
"0000234072" "RP1L1"
"0000234073" "RP1L1"
"0000234074" "RP1L1"
"0000234075" "RP1L1"
"0000234076" "RP1L1"
"0000234077" "RP1L1"
"0000234078" "RP1L1"
"0000234079" "RP1L1"
"0000234080" "RP1L1"
"0000234081" "RP1L1"
"0000234082" "RP1L1"
"0000234083" "RP1L1"
"0000234084" "RP1L1"
"0000234085" "RP1L1"
"0000234086" "RP1L1"
"0000234087" "RP1L1"
"0000234088" "RP1L1"
"0000234089" "RP1L1"
"0000234090" "RP1L1"
"0000234091" "RP1L1"
"0000234092" "RP1L1"
"0000234093" "RP1L1"
"0000234094" "RP1L1"
"0000234095" "RP1L1"
"0000234096" "RP1L1"
"0000234097" "RP1L1"
"0000234098" "RP1L1"
"0000234099" "RP1L1"
"0000234100" "RP1L1"
"0000234101" "RP1L1"
"0000234102" "RP1L1"
"0000234103" "RP1L1"
"0000234104" "RP1L1"
"0000234105" "RP1L1"
"0000234106" "RP1L1"
"0000234107" "RP1L1"
"0000234108" "RP1L1"
"0000234109" "RP1L1"
"0000234110" "RP1L1"
"0000234111" "RP1L1"
"0000234112" "RP1L1"
"0000234113" "RP1L1"
"0000234114" "RP1L1"
"0000234115" "RP1L1"
"0000234116" "RP1L1"
"0000234117" "RP1L1"
"0000234118" "RP1L1"
"0000234119" "RP1L1"
"0000234120" "RP1L1"
"0000234121" "RP1L1"
"0000234122" "RP1L1"
"0000234123" "RP1L1"
"0000234124" "RP1L1"
"0000234125" "RP1L1"
"0000234126" "RP1L1"
"0000234127" "RP1L1"
"0000234128" "RP1L1"
"0000234129" "RP1L1"
"0000234130" "RP1L1"
"0000234131" "RP1L1"
"0000234132" "RP1L1"
"0000234133" "RP1L1"
"0000234134" "RP1L1"
"0000234135" "RP1L1"
"0000234136" "RP1L1"
"0000234137" "RP1L1"
"0000234828" "RP1L1"
"0000234829" "RP1L1"
"0000234830" "RP1L1"
"0000234831" "RP1L1"
"0000234832" "RP1L1"
"0000234833" "RP1L1"
"0000234834" "RP1L1"
"0000234835" "RP1L1"
"0000234836" "RP1L1"
"0000234837" "RP1L1"
"0000234838" "RP1L1"
"0000234839" "RP1L1"
"0000234840" "RP1L1"
"0000234841" "RP1L1"
"0000234842" "RP1L1"
"0000234843" "RP1L1"
"0000234844" "RP1L1"
"0000234845" "RP1L1"
"0000234846" "RP1L1"
"0000234847" "RP1L1"
"0000234848" "RP1L1"
"0000234849" "RP1L1"
"0000234850" "RP1L1"
"0000234851" "RP1L1"
"0000234852" "RP1L1"
"0000234853" "RP1L1"
"0000246883" "RP1L1"
"0000309800" "RP1L1"
"0000309868" "RP1L1"
"0000332508" "RP1L1"
"0000333262" "RP1L1"
"0000333263" "RP1L1"
"0000333732" "RP1L1"
"0000334581" "PRPF31"
"0000334613" "RP1L1"
"0000359982" "RP1L1"
"0000359983" "RP1L1"
"0000359984" "RP1L1"
"0000359985" "RP1L1"
"0000359986" "RP1L1"
"0000359987" "RP1L1"
"0000359988" "RP1L1"
"0000359989" "RP1L1"
"0000359990" "RP1L1"
"0000359991" "RP1L1"
"0000359993" "RP1L1"
"0000359994" "RP1L1"
"0000359996" "RP1L1"
"0000359997" "RP1L1"
"0000359998" "RP1L1"
"0000359999" "RP1L1"
"0000360001" "RP1L1"
"0000360005" "RP1L1"
"0000360006" "RP1L1"
"0000363456" "RP1L1"
"0000364124" "RP1L1"
"0000364129" "RP1L1"
"0000364130" "RP1L1"
"0000364948" "RP1L1"
"0000374699" "RP1L1"
"0000376506" "RP1L1"
"0000376507" "RP1L1"
"0000376508" "RP1L1"
"0000376509" "RP1L1"
"0000376510" "RP1L1"
"0000376511" "RP1L1"
"0000376538" "RP1L1"
"0000377511" "RP1L1"
"0000379158" "RP1L1"
"0000384726" "RP1L1"
"0000385339" "RP1L1"
"0000385800" "RP1L1"
"0000387396" "RP1L1"
"0000387399" "GUCY2D"
"0000387401" "KIZ"
"0000387403" "AIPL1"
"0000387448" "RPGR"
"0000387451" "BEST1"
"0000387482" "PITPNM3"
"0000388841" "RP1L1"
"0000388842" "RP1L1"
"0000388843" "RP1L1"
"0000388844" "RP1L1"
"0000388890" "RP1L1"
"0000389743" "RP1L1"
"0000390193" "RP1L1"
"0000390194" "RP1L1"
"0000390327" "RP1L1"
"0000390437" "RP1L1"
"0000390571" "RP1L1"
"0000390604" "RP1L1"
"0000390608" "RP1L1"
"0000390609" "RP1L1"
"0000390610" "RP1L1"
"0000390611" "RP1L1"
"0000390612" "RP1L1"
"0000390613" "RP1L1"
"0000390614" "RP1L1"
"0000390633" "RP1L1"
"0000390659" "RP1L1"
"0000390660" "RP1L1"
"0000390668" "RP1L1"
"0000390683" "RP1L1"
"0000390684" "RP1L1"
"0000390693" "RP1L1"
"0000390703" "RP1L1"
"0000390704" "RP1L1"
"0000390705" "RP1L1"
"0000390713" "RP1L1"
"0000390847" "RP1L1"
"0000390896" "RP1L1"
"0000390967" "RP1L1"
"0000390968" "RP1L1"
"0000390969" "RP1L1"
"0000391276" "RP1L1"
"0000392069" "KCNV2"
"0000392177" "RP1L1"
"0000392182" "RP1L1"
"0000392449" "RP1L1"
"0000392450" "RP1L1"
"0000392497" "RP1L1"
"0000392501" "RP1L1"
"0000392507" "RP1L1"
"0000392513" "RP1L1"
"0000393814" "RP1L1"
"0000393816" "RP1L1"
"0000393845" "RP1L1"
"0000393893" "RP1L1"
"0000394562" "RP1L1"
"0000394563" "ABCA4"
"0000394598" "RP1L1"
"0000394599" "RP1L1"
"0000394600" "RP1L1"
"0000394601" "RP1L1"
"0000394602" "RP1L1"
"0000394603" "RP1L1"
"0000394604" "RP1L1"
"0000394605" "RP1L1"
"0000394606" "RP1L1"
"0000394607" "RP1L1"
"0000394608" "RP1L1"
"0000394609" "RP1L1"
"0000394610" "RP1L1"
"0000394611" "RP1L1"
"0000394612" "RP1L1"
"0000394613" "RP1L1"
"0000394614" "RP1L1"
"0000394615" "RP1L1"
"0000394616" "RP1L1"
"0000394617" "RP1L1"
"0000394618" "RP1L1"
"0000394619" "RP1L1"
"0000394620" "RP1L1"
"0000394621" "RP1L1"
"0000394622" "RP1L1"
"0000394623" "RP1L1"
"0000394624" "RP1L1"
"0000394625" "RP1L1"
"0000394626" "RP1L1"
"0000394627" "RP1L1"
"0000394628" "RP1L1"
"0000394629" "RP1L1"
"0000394630" "RP1L1"
"0000394631" "RP1L1"
"0000394632" "RP1L1"
"0000394633" "RP1L1"
"0000394634" "RP1L1"
"0000395783" "RP1L1"
"0000397000" "RP1L1"
"0000397093" "RP1L1"
"0000397104" "RP1L1"
"0000397119" "RP1L1"
"0000397147" "RP1L1"
"0000397158" "RP1L1"
"0000397750" "USH2A"
"0000397827" "EYS"
"0000405231" "RP1L1"
"0000409699" "RP1L1"
"0000412946" "RP1L1"
"0000412947" "RP1L1"
"0000412948" "RP1L1"
"0000412949" "RP1L1"
"0000412950" "RP1L1"
"0000412951" "RP1L1"
"0000412952" "RP1L1"
"0000412953" "RP1L1"
"0000412954" "RP1L1"
"0000412955" "RP1L1"
"0000412956" "RP1L1"
"0000412957" "RP1L1"
"0000412958" "RP1L1"
"0000412959" "RP1L1"
"0000412960" "RP1L1"
"0000412961" "RP1L1"
"0000412962" "RP1L1"
"0000412963" "RP1L1"
"0000412964" "RP1L1"
"0000412965" "RP1L1"
"0000412966" "RP1L1"
"0000412967" "RP1L1"
"0000412968" "RP1L1"
"0000412969" "RP1L1"
"0000412970" "RP1L1"
"0000412971" "RP1L1"
"0000412972" "RP1L1"
"0000412973" "RP1L1"
"0000412974" "RP1L1"
"0000412975" "RP1L1"
"0000412976" "RP1L1"
"0000412977" "RP1L1"
"0000412978" "RP1L1"
"0000412979" "RP1L1"
"0000412980" "RP1L1"
"0000412981" "RP1L1"
"0000412982" "RP1L1"
"0000412983" "RP1L1"
"0000412984" "RP1L1"
"0000412985" "RP1L1"
"0000412986" "RP1L1"
"0000412987" "RP1L1"
"0000412988" "RP1L1"
"0000412989" "RP1L1"
"0000412990" "RP1L1"
"0000412991" "RP1L1"
"0000412992" "RP1L1"
"0000412993" "RP1L1"
"0000412994" "RP1L1"
"0000412995" "RP1L1"
"0000412996" "RP1L1"
"0000412997" "RP1L1"
"0000412998" "RP1L1"
"0000412999" "RP1L1"
"0000413000" "RP1L1"
"0000413001" "RP1L1"
"0000413002" "RP1L1"
"0000413003" "RP1L1"
"0000413004" "RP1L1"
"0000413005" "RP1L1"
"0000413006" "RP1L1"
"0000413007" "RP1L1"
"0000413008" "RP1L1"
"0000413009" "RP1L1"
"0000413010" "RP1L1"
"0000413011" "RP1L1"
"0000413012" "RP1L1"
"0000413013" "RP1L1"
"0000413014" "RP1L1"
"0000413015" "RP1L1"
"0000413016" "RP1L1"
"0000413017" "RP1L1"
"0000413018" "RP1L1"
"0000413019" "RP1L1"
"0000413020" "RP1L1"
"0000413021" "RP1L1"
"0000413022" "RP1L1"
"0000413023" "RP1L1"
"0000413024" "RP1L1"
"0000413025" "RP1L1"
"0000413026" "RP1L1"
"0000413027" "RP1L1"
"0000413028" "RP1L1"
"0000413029" "RP1L1"
"0000413030" "RP1L1"
"0000413031" "RP1L1"
"0000413032" "RP1L1"
"0000413033" "RP1L1"
"0000413034" "RP1L1"
"0000413035" "RP1L1"
"0000413036" "RP1L1"
"0000413037" "RP1L1"
"0000413038" "RP1L1"
"0000413039" "RP1L1"
"0000413040" "RP1L1"
"0000413041" "RP1L1"
"0000413042" "RP1L1"
"0000413043" "RP1L1"
"0000413044" "RP1L1"
"0000413045" "RP1L1"
"0000413046" "RP1L1"
"0000413047" "RP1L1"
"0000413048" "RP1L1"
"0000413049" "RP1L1"
"0000413050" "RP1L1"
"0000413051" "RP1L1"
"0000413052" "RP1L1"
"0000413053" "RP1L1"
"0000413054" "RP1L1"
"0000413055" "RP1L1"
"0000413056" "RP1L1"
"0000413057" "RP1L1"
"0000413058" "RP1L1"
"0000413059" "RP1L1"
"0000413060" "RP1L1"
"0000413061" "RP1L1"
"0000413062" "RP1L1"
"0000413063" "RP1L1"
"0000413064" "RP1L1"
"0000413065" "RP1L1"
"0000413066" "RP1L1"
"0000413067" "RP1L1"
"0000413068" "RP1L1"
"0000413069" "RP1L1"
"0000413070" "RP1L1"
"0000413071" "RP1L1"
"0000413072" "RP1L1"
"0000413073" "RP1L1"
"0000413074" "RP1L1"
"0000413075" "RP1L1"
"0000413076" "RP1L1"
"0000413077" "RP1L1"
"0000413078" "RP1L1"
"0000413079" "RP1L1"
"0000413080" "RP1L1"
"0000413081" "RP1L1"
"0000413082" "RP1L1"
"0000413083" "RP1L1"
"0000413084" "RP1L1"
"0000413085" "RP1L1"
"0000413086" "RP1L1"
"0000413087" "RP1L1"
"0000413088" "RP1L1"
"0000413089" "RP1L1"
"0000413090" "RP1L1"
"0000413091" "RP1L1"
"0000413092" "RP1L1"
"0000413093" "RP1L1"
"0000413094" "RP1L1"
"0000413095" "RP1L1"
"0000413096" "RP1L1"
"0000413097" "RP1L1"
"0000413098" "RP1L1"
"0000413099" "RP1L1"
"0000413100" "RP1L1"
"0000413101" "RP1L1"
"0000413102" "RP1L1"
"0000413103" "RP1L1"
"0000413104" "RP1L1"
"0000413105" "RP1L1"
"0000415685" "RP1L1"
"0000421186" "EYS"
"0000421698" "RP1L1"
"0000421705" "RP1L1"
"0000421747" "RP1L1"
"0000421784" "RP1L1"
"0000421786" "RP1L1"
"0000421800" "RP1L1"
"0000421903" "RP1L1"
"0000428264" "MYO7A"
"0000430923" "RP1L1"
"0000430985" "RP1L1"
"0000431055" "RP1L1"
"0000431186" "RP1L1"
"0000431293" "RP1L1"
"0000431308" "RP1L1"
## 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 = 1164
"{{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}}"
"0000090900" "0" "50" "8" "10480383" "10480383" "subst" "0.000115724" "00237" "RP1L1_000001" "g.10480383G>A" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10622873G>A" "" "VUS" ""
"0000090901" "0" "50" "8" "10468735" "10468735" "subst" "2.45849E-5" "00237" "RP1L1_000002" "g.10468735C>T" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10611225C>T" "" "VUS" ""
"0000090902" "0" "50" "8" "10467835" "10467835" "subst" "0.000300561" "00237" "RP1L1_000003" "g.10467835A>G" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10610325A>G" "" "VUS" ""
"0000090903" "0" "50" "8" "10468759" "10468759" "subst" "0.000273836" "00237" "RP1L1_000004" "g.10468759C>T" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10611249C>T" "" "VUS" ""
"0000090904" "0" "50" "8" "10468009" "10468009" "subst" "0" "00237" "RP1L1_000005" "g.10468009C>G" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10610499C>G" "" "VUS" ""
"0000090905" "0" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00237" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000090906" "1" "50" "8" "10480263" "10480263" "subst" "4.07973E-6" "00237" "RP1L1_000007" "g.10480263G>A" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10622753G>A" "" "VUS" ""
"0000090907" "1" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00237" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000090908" "0" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00237" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000090909" "0" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00237" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000090910" "1" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00237" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000090911" "0" "50" "8" "10480578" "10480578" "subst" "7.81077E-5" "00237" "RP1L1_000008" "g.10480578C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10623068C>T" "" "VUS" ""
"0000090912" "0" "30" "8" "10480278" "10480278" "subst" "0.000290538" "00237" "RP1L1_000009" "g.10480278C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10622768C>T" "" "likely benign" ""
"0000090913" "0" "30" "8" "10470559" "10470559" "subst" "0.000106047" "00237" "RP1L1_000010" "g.10470559G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10613049G>A" "" "likely benign" ""
"0000090914" "0" "30" "8" "10470538" "10470538" "subst" "4.07594E-6" "00237" "RP1L1_000011" "g.10470538G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10613028G>C" "" "likely benign" ""
"0000090915" "3" "70" "8" "10469971" "10469971" "subst" "4.55106E-5" "00237" "RP1L1_000012" "g.10469971C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10612461C>G" "" "likely pathogenic" ""
"0000090916" "0" "30" "8" "10468693" "10468693" "subst" "8.22558E-6" "00237" "RP1L1_000013" "g.10468693G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10611183G>A" "" "likely benign" ""
"0000090917" "0" "30" "8" "10468408" "10468408" "subst" "0.000372763" "00237" "RP1L1_000014" "g.10468408C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10610898C>G" "" "likely benign" ""
"0000090918" "3" "90" "8" "10480111" "10480111" "del" "0" "00237" "RP1L1_000015" "g.10480111del" "" "{PMID:Davidson 2013:23281133}" "" "601delG" "" "Germline" "yes" "" "0" "" "" "g.10622601del" "" "pathogenic" ""
"0000091176" "21" "50" "8" "10464491" "10464491" "subst" "4.06108E-6" "01251" "RP1L1_000017" "g.10464491G>A" "" "{PMID:Liu 2016:27029556}, {DOI:Liu 2016:10.3109/13816810.2016.1151898}" "" "" "" "Germline" "" "" "0" "" "" "g.10606981G>A" "" "VUS" ""
"0000091177" "21" "90" "8" "10480385" "10480386" "ins" "0.00140369" "01251" "RP1L1_000016" "g.10480385_10480386insA" "" "{PMID:Liu 2016:27029556}, {DOI:Liu 2016:10.3109/13816810.2016.1151898}" "" "" "" "Germline" "" "" "0" "" "" "g.10622875_10622876insA" "" "pathogenic" ""
"0000246664" "0" "10" "8" "10480268" "10480268" "subst" "0.00556704" "02330" "RP1L1_000135" "g.10480268A>C" "" "" "" "RP1L1(NM_178857.5):c.444T>G (p.L148=), RP1L1(NM_178857.6):c.444T>G (p.L148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622758A>C" "" "benign" ""
"0000246665" "0" "10" "8" "10464561" "10464561" "subst" "0.0022579" "02330" "RP1L1_000018" "g.10464561A>G" "" "" "" "RP1L1(NM_178857.5):c.7047T>C (p.T2349=), RP1L1(NM_178857.6):c.7047T>C (p.T2349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607051A>G" "" "benign" ""
"0000246711" "0" "10" "8" "10467601" "10467601" "subst" "0" "02330" "RP1L1_000172" "g.10467601A>G" "" "" "" "RP1L1(NM_178857.6):c.4007T>C (p.V1336A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610091A>G" "" "benign" ""
"0000246712" "0" "10" "8" "10467601" "10467601" "subst" "0" "02330" "RP1L1_000173" "g.10467601A>T" "" "" "" "RP1L1(NM_178857.6):c.4007T>A (p.V1336E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610091A>T" "" "benign" ""
"0000246743" "0" "30" "8" "10467616" "10467616" "subst" "0" "02330" "RP1L1_000176" "g.10467616A>C" "" "" "" "RP1L1(NM_178857.6):c.3992T>G (p.L1331R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610106A>C" "" "likely benign" ""
"0000246745" "0" "30" "8" "10469462" "10469462" "subst" "2.43833E-5" "02330" "RP1L1_000098" "g.10469462A>G" "" "" "" "RP1L1(NM_178857.6):c.2146T>C (p.S716P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611952A>G" "" "likely benign" ""
"0000248837" "0" "10" "8" "10469233" "10469233" "subst" "0.416258" "02325" "RP1L1_000095" "g.10469233A>G" "" "" "" "RP1L1(NM_178857.6):c.2375T>C (p.L792P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611723A>G" "" "benign" ""
"0000253355" "0" "10" "8" "10480268" "10480268" "subst" "0.00556704" "01943" "RP1L1_000135" "g.10480268A>C" "" "" "" "RP1L1(NM_178857.5):c.444T>G (p.L148=), RP1L1(NM_178857.6):c.444T>G (p.L148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622758A>C" "" "benign" ""
"0000254137" "0" "30" "8" "10464561" "10464561" "subst" "0.0022579" "01943" "RP1L1_000018" "g.10464561A>G" "" "" "" "RP1L1(NM_178857.5):c.7047T>C (p.T2349=), RP1L1(NM_178857.6):c.7047T>C (p.T2349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607051A>G" "" "likely benign" ""
"0000254652" "0" "30" "8" "10467596" "10467596" "subst" "4.0776E-6" "01943" "RP1L1_000064" "g.10467596A>G" "" "" "" "RP1L1(NM_178857.5):c.4012T>C (p.L1338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610086A>G" "" "likely benign" ""
"0000256332" "0" "50" "8" "10480518" "10480518" "subst" "0.000114489" "01943" "RP1L1_000144" "g.10480518A>G" "" "" "" "RP1L1(NM_178857.5):c.194T>C (p.M65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10623008A>G" "" "VUS" ""
"0000294908" "0" "30" "8" "10470508" "10470508" "subst" "0" "02330" "RP1L1_000117" "g.10470508C>T" "" "" "" "RP1L1(NM_178857.6):c.1100G>A (p.C367Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612998C>T" "" "likely benign" ""
"0000294909" "0" "30" "8" "10470381" "10470381" "subst" "0.000314542" "02330" "RP1L1_000115" "g.10470381C>T" "" "" "" "RP1L1(NM_178857.6):c.1227G>A (p.T409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612871C>T" "" "likely benign" ""
"0000294911" "0" "10" "8" "10470335" "10470335" "subst" "5.35548E-5" "02330" "RP1L1_000113" "g.10470335T>G" "" "" "" "RP1L1(NM_178857.6):c.1273A>C (p.R425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612825T>G" "" "benign" ""
"0000294912" "0" "10" "8" "10470120" "10470120" "subst" "0" "02330" "RP1L1_000111" "g.10470120T>C" "" "" "" "RP1L1(NM_178857.6):c.1488A>G (p.G496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612610T>C" "" "benign" ""
"0000294913" "0" "30" "8" "10470053" "10470053" "subst" "0.000230991" "02330" "RP1L1_000108" "g.10470053C>T" "" "" "" "RP1L1(NM_178857.6):c.1555G>A (p.G519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612543C>T" "" "likely benign" ""
"0000294914" "0" "10" "8" "10480556" "10480556" "subst" "0.00155593" "02330" "RP1L1_000147" "g.10480556G>A" "" "" "" "RP1L1(NM_178857.5):c.156C>T (p.A52=), RP1L1(NM_178857.6):c.156C>T (p.A52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10623046G>A" "" "benign" ""
"0000294915" "0" "10" "8" "10480546" "10480546" "subst" "0.0116014" "02330" "RP1L1_000146" "g.10480546G>A" "" "" "" "RP1L1(NM_178857.6):c.166C>T (p.R56C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10623036G>A" "" "benign" ""
"0000294916" "0" "30" "8" "10480544" "10480544" "subst" "0.000287104" "02330" "RP1L1_000145" "g.10480544G>A" "" "" "" "RP1L1(NM_178857.5):c.168C>T (p.R56=), RP1L1(NM_178857.6):c.168C>T (p.R56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10623034G>A" "" "likely benign" ""
"0000294917" "0" "10" "8" "10469906" "10469906" "subst" "0" "02330" "RP1L1_000107" "g.10469906C>G" "" "" "" "RP1L1(NM_178857.5):c.1702G>C (p.A568P), RP1L1(NM_178857.6):c.1702G>C (p.A568P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612396C>G" "" "benign" ""
"0000294918" "0" "10" "8" "10469885" "10469885" "subst" "0.000384609" "02330" "RP1L1_000105" "g.10469885C>T" "" "" "" "RP1L1(NM_178857.6):c.1723G>A (p.A575T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612375C>T" "" "benign" ""
"0000294919" "0" "10" "8" "10469766" "10469766" "subst" "0.000375302" "02330" "RP1L1_000103" "g.10469766G>T" "" "" "" "RP1L1(NM_178857.6):c.1842C>A (p.G614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612256G>T" "" "benign" ""
"0000294920" "0" "30" "8" "10469534" "10469534" "subst" "5.28236E-5" "02330" "RP1L1_000099" "g.10469534G>A" "" "" "" "RP1L1(NM_178857.6):c.2074C>T (p.R692W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612024G>A" "" "likely benign" ""
"0000294921" "0" "10" "8" "10469289" "10469289" "subst" "0.00134254" "02330" "RP1L1_000096" "g.10469289C>T" "" "" "" "RP1L1(NM_178857.5):c.2319G>A (p.P773=), RP1L1(NM_178857.6):c.2319G>A (p.P773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611779C>T" "" "benign" ""
"0000294922" "0" "30" "8" "10469152" "10469152" "subst" "0" "02330" "RP1L1_000094" "g.10469152C>T" "" "" "" "RP1L1(NM_178857.6):c.2456G>A (p.G819D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611642C>T" "" "likely benign" ""
"0000294923" "0" "10" "8" "10480463" "10480463" "subst" "0.000685798" "02330" "RP1L1_000142" "g.10480463T>C" "" "" "" "RP1L1(NM_178857.5):c.249A>G (p.T83=), RP1L1(NM_178857.6):c.249A>G (p.T83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622953T>C" "" "benign" ""
"0000294924" "0" "10" "8" "10469029" "10469029" "subst" "0.000675202" "02330" "RP1L1_000093" "g.10469029C>T" "" "" "" "RP1L1(NM_178857.6):c.2579G>A (p.R860Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611519C>T" "" "benign" ""
"0000294925" "0" "10" "8" "10469028" "10469028" "subst" "0" "02330" "RP1L1_000092" "g.10469028C>G" "" "" "" "RP1L1(NM_178857.6):c.2580G>C (p.R860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611518C>G" "" "benign" ""
"0000294927" "0" "10" "8" "10468964" "10468964" "subst" "0.00265569" "02330" "RP1L1_000088" "g.10468964G>A" "" "" "" "RP1L1(NM_178857.5):c.2644C>T (p.R882W), RP1L1(NM_178857.6):c.2644C>T (p.R882W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611454G>A" "" "benign" ""
"0000294928" "0" "10" "8" "10468915" "10468915" "subst" "0" "02330" "RP1L1_000087" "g.10468915G>T" "" "" "" "RP1L1(NM_178857.6):c.2693C>A (p.T898K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611405G>T" "" "benign" ""
"0000294929" "0" "10" "8" "10480439" "10480439" "subst" "0.00186402" "02330" "RP1L1_000141" "g.10480439G>A" "" "" "" "RP1L1(NM_178857.5):c.273C>T (p.S91=), RP1L1(NM_178857.6):c.273C>T (p.S91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622929G>A" "" "benign" ""
"0000294930" "0" "10" "8" "10468857" "10468857" "subst" "0.000136697" "02330" "RP1L1_000086" "g.10468857C>T" "" "" "" "RP1L1(NM_178857.6):c.2751G>A (p.A917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611347C>T" "" "benign" ""
"0000294931" "0" "30" "8" "10468760" "10468760" "subst" "0.000232883" "02330" "RP1L1_000083" "g.10468760G>A" "" "" "" "RP1L1(NM_178857.6):c.2848C>T (p.R950C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611250G>A" "" "likely benign" ""
"0000294933" "0" "10" "8" "10468353" "10468353" "subst" "0.00213378" "02330" "RP1L1_000081" "g.10468353G>C" "" "" "" "RP1L1(NM_178857.5):c.3255C>G (p.I1085M), RP1L1(NM_178857.6):c.3255C>G (p.I1085M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610843G>C" "" "benign" ""
"0000294934" "0" "50" "8" "10480383" "10480383" "subst" "0.000115724" "02330" "RP1L1_000001" "g.10480383G>A" "" "" "" "RP1L1(NM_178857.5):c.329C>T (p.P110L, p.(Pro110Leu)), RP1L1(NM_178857.6):c.329C>T (p.P110L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622873G>A" "" "VUS" ""
"0000294935" "0" "10" "8" "10480375" "10480375" "subst" "0.00228365" "02330" "RP1L1_000139" "g.10480375G>A" "" "" "" "RP1L1(NM_178857.6):c.337C>T (p.P113S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622865G>A" "" "benign" ""
"0000294936" "0" "10" "8" "10468094" "10468094" "subst" "0.00311664" "02330" "RP1L1_000079" "g.10468094G>T" "" "" "" "RP1L1(NM_178857.5):c.3514C>A (p.L1172I), RP1L1(NM_178857.6):c.3514C>A (p.L1172I, p.(Leu1172Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610584G>T" "" "benign" ""
"0000294937" "0" "10" "8" "10468017" "10468017" "subst" "6.09513E-5" "02330" "RP1L1_000078" "g.10468017G>A" "" "" "" "RP1L1(NM_178857.5):c.3591C>T (p.S1197=), RP1L1(NM_178857.6):c.3591C>T (p.S1197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610507G>A" "" "benign" ""
"0000294938" "0" "10" "8" "10467678" "10467678" "subst" "0" "02330" "RP1L1_000077" "g.10467678T>C" "" "" "" "RP1L1(NM_178857.6):c.3930A>G (p.T1310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610168T>C" "" "benign" ""
"0000294939" "0" "10" "8" "10467673" "10467675" "del" "0" "02330" "RP1L1_000074" "g.10467673_10467675del" "" "" "" "RP1L1(NM_178857.5):c.3935_3937delGAG (p.(Gly1312del)), RP1L1(NM_178857.6):c.3935_3937delGAG (p.G1312del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610163_10610165del" "" "benign" ""
"0000294940" "0" "30" "8" "10467673" "10467673" "subst" "0" "02330" "RP1L1_000075" "g.10467673C>T" "" "" "" "RP1L1(NM_178857.6):c.3935G>A (p.G1312E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610163C>T" "" "likely benign" ""
"0000294941" "0" "10" "8" "10467653" "10467654" "ins" "0" "02330" "RP1L1_000072" "g.10467653_10467654insAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCC" "" "" "" "RP1L1(NM_178857.6):c.3955_3956ins38 (p.A1319Gfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610143_10610144insAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCC" "" "benign" ""
"0000294942" "0" "10" "8" "10467625" "10467672" "del" "0" "02330" "RP1L1_000175" "g.10467625_10467672del" "" "" "" "RP1L1(NM_178857.6):c.3956_4003del (p.A1319_E1334del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610115_10610162del" "" "benign" ""
"0000294943" "0" "30" "8" "10467592" "10467637" "del" "0" "02330" "RP1L1_000063" "g.10467592_10467637del" "" "" "" "RP1L1(NM_178857.6):c.3971_4016del (p.E1324Gfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610082_10610127del" "" "likely benign" ""
"0000294944" "0" "10" "8" "10467636" "10467636" "subst" "0.0847711" "02330" "RP1L1_000190" "g.10467636T>C" "" "" "" "RP1L1(NM_178857.5):c.3972A>G (p.E1324=), RP1L1(NM_178857.6):c.3972A>G (p.E1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610126T>C" "" "benign" ""
"0000294945" "0" "30" "8" "10467635" "10467635" "subst" "0" "02330" "RP1L1_000189" "g.10467635T>C" "" "" "" "RP1L1(NM_178857.6):c.3973A>G (p.T1325A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610125T>C" "" "likely benign" ""
"0000294946" "0" "10" "8" "10467634" "10467634" "subst" "0" "02330" "RP1L1_000188" "g.10467634G>T" "" "" "" "RP1L1(NM_178857.6):c.3974C>A (p.T1325N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610124G>T" "" "benign" ""
"0000294947" "0" "10" "8" "10467629" "10467629" "subst" "0" "02330" "RP1L1_000187" "g.10467629T>C" "" "" "" "RP1L1(NM_178857.5):c.3979A>G (p.T1327A), RP1L1(NM_178857.6):c.3979A>G (p.T1327A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610119T>C" "" "benign" ""
"0000294948" "0" "30" "8" "10467628" "10467628" "subst" "2.16704E-5" "02330" "RP1L1_000185" "g.10467628G>T" "" "" "" "RP1L1(NM_178857.6):c.3980C>A (p.T1327K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610118G>T" "" "likely benign" ""
"0000294949" "0" "10" "8" "10467628" "10467628" "subst" "0.0784683" "02330" "RP1L1_000186" "g.10467628G>A" "" "" "" "RP1L1(NM_178857.5):c.3980C>T (p.T1327I), RP1L1(NM_178857.6):c.3980C>T (p.T1327I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610118G>A" "" "benign" ""
"0000294950" "0" "10" "8" "10467627" "10467627" "subst" "0" "02330" "RP1L1_000184" "g.10467627T>C" "" "" "" "RP1L1(NM_178857.5):c.3981A>G (p.T1327=), RP1L1(NM_178857.6):c.3981A>G (p.T1327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610117T>C" "" "benign" ""
"0000294951" "0" "10" "8" "10467626" "10467626" "subst" "0.0788609" "02330" "RP1L1_000183" "g.10467626C>T" "" "" "" "RP1L1(NM_178857.5):c.3982G>A (p.E1328K), RP1L1(NM_178857.6):c.3982G>A (p.E1328K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610116C>T" "" "benign" ""
"0000294953" "0" "10" "8" "10467625" "10467625" "subst" "0.079208" "02330" "RP1L1_000182" "g.10467625T>A" "" "" "" "RP1L1(NM_178857.5):c.3983A>T (p.E1328V), RP1L1(NM_178857.6):c.3983A>T (p.E1328V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610115T>A" "" "benign" ""
"0000294954" "0" "10" "8" "10467621" "10467621" "subst" "0" "02330" "RP1L1_000180" "g.10467621T>C" "" "" "" "RP1L1(NM_178857.6):c.3987A>G (p.E1329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610111T>C" "" "benign" ""
"0000294955" "0" "10" "8" "10467618" "10467618" "subst" "0" "02330" "RP1L1_000179" "g.10467618C>T" "" "" "" "RP1L1(NM_178857.6):c.3990G>A (p.G1330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610108C>T" "" "benign" ""
"0000294956" "0" "10" "8" "10467617" "10467617" "subst" "0" "02330" "RP1L1_000177" "g.10467617G>T" "" "" "" "RP1L1(NM_178857.6):c.3991C>A (p.L1331M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610107G>T" "" "benign" ""
"0000294957" "0" "10" "8" "10467617" "10467617" "subst" "0" "02330" "RP1L1_000178" "g.10467617G>C" "" "" "" "RP1L1(NM_178857.6):c.3991C>G (p.L1331V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610107G>C" "" "benign" ""
"0000294958" "0" "10" "8" "10467614" "10467614" "subst" "0" "02330" "RP1L1_000068" "g.10467614G>C" "" "" "" "RP1L1(NM_178857.6):c.3994C>G (p.Q1332E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610104G>C" "" "benign" ""
"0000294959" "0" "10" "8" "10467609" "10467609" "subst" "0" "02330" "RP1L1_000067" "g.10467609T>C" "" "" "" "RP1L1(NM_178857.6):c.3999A>G (p.E1333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610099T>C" "" "benign" ""
"0000294960" "0" "10" "8" "10467606" "10467606" "subst" "0.00114319" "02330" "RP1L1_000066" "g.10467606C>T" "" "" "" "RP1L1(NM_178857.5):c.4002G>A (p.E1334=), RP1L1(NM_178857.6):c.4002G>A (p.E1334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610096C>T" "" "benign" ""
"0000294961" "0" "10" "8" "10467599" "10467599" "subst" "4.09226E-6" "02330" "RP1L1_000065" "g.10467599G>T" "" "" "" "RP1L1(NM_178857.6):c.4009C>A (p.Q1337K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610089G>T" "" "benign" ""
"0000294963" "0" "30" "8" "10467588" "10467589" "del" "0" "02330" "RP1L1_000060" "g.10467588_10467589del" "" "" "" "RP1L1(NM_178857.6):c.4020_4021delAA (p.E1340Dfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610078_10610079del" "" "likely benign" ""
"0000294964" "0" "10" "8" "10480305" "10480305" "subst" "0.00352901" "02330" "RP1L1_000138" "g.10480305C>T" "" "" "" "RP1L1(NM_178857.5):c.407G>A (p.R136H), RP1L1(NM_178857.6):c.407G>A (p.R136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622795C>T" "" "benign" ""
"0000294966" "0" "30" "8" "10467361" "10467361" "subst" "4.87381E-5" "02330" "RP1L1_000055" "g.10467361G>A" "" "" "" "RP1L1(NM_178857.6):c.4247C>T (p.P1416L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609851G>A" "" "likely benign" ""
"0000294967" "0" "10" "8" "10467285" "10467285" "subst" "0.00083024" "02330" "RP1L1_000054" "g.10467285C>T" "" "" "" "RP1L1(NM_178857.5):c.4323G>A (p.P1441=), RP1L1(NM_178857.6):c.4323G>A (p.P1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609775C>T" "" "benign" ""
"0000294968" "0" "30" "8" "10467248" "10467248" "subst" "0.000257351" "02330" "RP1L1_000053" "g.10467248G>A" "" "" "" "RP1L1(NM_178857.6):c.4360C>T (p.P1454S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609738G>A" "" "likely benign" ""
"0000294969" "0" "30" "8" "10467164" "10467164" "subst" "0.00160125" "02330" "RP1L1_000051" "g.10467164C>T" "" "" "" "RP1L1(NM_178857.5):c.4444G>A (p.G1482R), RP1L1(NM_178857.6):c.4444G>A (p.G1482R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609654C>T" "" "likely benign" ""
"0000294970" "0" "10" "8" "10466757" "10466757" "subst" "1.67794E-5" "02330" "RP1L1_000044" "g.10466757C>G" "" "" "" "RP1L1(NM_178857.5):c.4851G>C (p.S1617=), RP1L1(NM_178857.6):c.4851G>C (p.S1617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609247C>G" "" "benign" ""
"0000294971" "0" "10" "8" "10466743" "10466743" "subst" "0.00382469" "02330" "RP1L1_000043" "g.10466743C>T" "" "" "" "RP1L1(NM_178857.5):c.4865G>A (p.R1622Q), RP1L1(NM_178857.6):c.4865G>A (p.R1622Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609233C>T" "" "benign" ""
"0000294973" "0" "10" "8" "10480223" "10480223" "subst" "0.00125922" "02330" "RP1L1_000132" "g.10480223G>T" "" "" "" "RP1L1(NM_178857.5):c.489C>A (p.R163=), RP1L1(NM_178857.6):c.489C>A (p.R163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622713G>T" "" "benign" ""
"0000294974" "0" "10" "8" "10466187" "10466187" "subst" "0.00394449" "02330" "RP1L1_000038" "g.10466187G>C" "" "" "" "RP1L1(NM_178857.5):c.5421C>G (p.G1807=), RP1L1(NM_178857.6):c.5421C>G (p.G1807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608677G>C" "" "benign" ""
"0000294975" "0" "50" "8" "10480163" "10480163" "subst" "0.000150288" "02330" "RP1L1_000131" "g.10480163G>A" "" "" "" "RP1L1(NM_178857.6):c.549C>T (p.G183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622653G>A" "" "VUS" ""
"0000294976" "0" "30" "8" "10480144" "10480144" "subst" "0.00200366" "02330" "RP1L1_000130" "g.10480144G>A" "" "" "" "RP1L1(NM_178857.5):c.568C>T (p.R190C), RP1L1(NM_178857.6):c.568C>T (p.R190C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622634G>A" "" "likely benign" ""
"0000294977" "0" "50" "8" "10465798" "10465798" "subst" "0" "02330" "RP1L1_000171" "g.10465798C>T" "" "" "" "RP1L1(NM_178857.6):c.5810G>A (p.G1937D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608288C>T" "" "VUS" ""
"0000294978" "0" "10" "8" "10465608" "10465608" "subst" "0" "02330" "RP1L1_000032" "g.10465608T>C" "" "" "" "RP1L1(NM_178857.6):c.6000A>G (p.V2000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608098T>C" "" "benign" ""
"0000294979" "0" "50" "8" "10465344" "10465344" "del" "0" "02330" "RP1L1_000030" "g.10465344del" "" "" "" "RP1L1(NM_178857.6):c.6265delG (p.E2089Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607834del" "" "VUS" ""
"0000294980" "0" "10" "8" "10465264" "10465264" "subst" "0.00108026" "02330" "RP1L1_000029" "g.10465264C>T" "" "" "" "RP1L1(NM_178857.6):c.6344G>A (p.G2115D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607754C>T" "" "benign" ""
"0000294981" "0" "10" "8" "10464919" "10464919" "subst" "0.000625691" "02330" "RP1L1_000022" "g.10464919G>A" "" "" "" "RP1L1(NM_178857.6):c.6689C>T (p.T2230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607409G>A" "" "benign" ""
"0000294982" "0" "30" "8" "10474037" "10474037" "subst" "0.00018687" "02330" "RP1L1_000128" "g.10474037C>T" "" "" "" "RP1L1(NM_178857.6):c.670G>A (p.A224T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10616527C>T" "" "likely benign" ""
"0000294983" "0" "10" "8" "10464796" "10464796" "subst" "0.00325026" "02330" "RP1L1_000021" "g.10464796G>C" "" "" "" "RP1L1(NM_178857.5):c.6812C>G (p.P2271R), RP1L1(NM_178857.6):c.6812C>G (p.P2271R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607286G>C" "" "benign" ""
"0000294984" "0" "10" "8" "10464750" "10464750" "subst" "0" "02330" "RP1L1_000019" "g.10464750G>A" "" "" "" "RP1L1(NM_178857.6):c.6858C>T (p.D2286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607240G>A" "" "benign" ""
"0000294985" "0" "10" "8" "10470874" "10470874" "subst" "0.000206759" "02330" "RP1L1_000127" "g.10470874G>C" "" "" "" "RP1L1(NM_178857.6):c.752-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613364G>C" "" "benign" ""
"0000294986" "0" "10" "8" "10470794" "10470794" "subst" "0.00093026" "02330" "RP1L1_000124" "g.10470794G>C" "" "" "" "RP1L1(NM_178857.6):c.814C>G (p.P272A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613284G>C" "" "benign" ""
"0000294987" "0" "30" "8" "10470691" "10470691" "subst" "7.79065E-5" "02330" "RP1L1_000122" "g.10470691C>G" "" "" "" "RP1L1(NM_178857.5):c.917G>C (p.G306A), RP1L1(NM_178857.6):c.917G>C (p.G306A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613181C>G" "" "likely benign" ""
"0000294988" "0" "10" "8" "10470654" "10470654" "subst" "0.00290181" "02330" "RP1L1_000121" "g.10470654G>A" "" "" "" "RP1L1(NM_178857.5):c.954C>T (p.D318=), RP1L1(NM_178857.6):c.954C>T (p.D318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613144G>A" "" "benign" ""
"0000297718" "0" "10" "8" "10470068" "10470068" "subst" "0.383323" "02325" "RP1L1_000109" "g.10470068C>T" "" "" "" "RP1L1(NM_178857.6):c.1540G>A (p.G514S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612558C>T" "" "benign" ""
"0000297719" "0" "10" "8" "10469817" "10469817" "subst" "0.844577" "02325" "RP1L1_000104" "g.10469817G>A" "" "" "" "RP1L1(NM_178857.6):c.1791C>T (p.G597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612307G>A" "" "benign" ""
"0000297720" "0" "10" "8" "10468172" "10468172" "subst" "0.733726" "02325" "RP1L1_000080" "g.10468172G>A" "" "" "" "RP1L1(NM_178857.6):c.3436C>T (p.R1146W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610662G>A" "" "benign" ""
"0000297721" "0" "10" "8" "10467652" "10467652" "subst" "0" "02325" "RP1L1_000071" "g.10467652G>C" "" "" "" "RP1L1(NM_178857.5):c.3956C>G (p.A1319G), RP1L1(NM_178857.6):c.3956C>G (p.A1319G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610142G>C" "" "benign" ""
"0000297722" "0" "10" "8" "10467637" "10467637" "subst" "0" "02325" "RP1L1_000069" "g.10467637T>C" "" "" "" "RP1L1(NM_178857.5):c.3971A>G (p.E1324G), RP1L1(NM_178857.6):c.3971A>G (p.E1324G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610127T>C" "" "benign" ""
"0000297723" "0" "10" "8" "10467636" "10467636" "subst" "0.0847711" "02325" "RP1L1_000190" "g.10467636T>C" "" "" "" "RP1L1(NM_178857.5):c.3972A>G (p.E1324=), RP1L1(NM_178857.6):c.3972A>G (p.E1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610126T>C" "" "benign" ""
"0000297724" "0" "10" "8" "10467576" "10467576" "subst" "0.331553" "02325" "RP1L1_000058" "g.10467576T>C" "" "" "" "RP1L1(NM_178857.5):c.4032A>G (p.T1344=), RP1L1(NM_178857.6):c.4032A>G (p.T1344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610066T>C" "" "benign" ""
"0000297725" "0" "10" "8" "10467207" "10467207" "subst" "0.984136" "02325" "RP1L1_000052" "g.10467207C>A" "" "" "" "RP1L1(NM_178857.6):c.4401G>T (p.R1467S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609697C>A" "" "benign" ""
"0000297726" "0" "10" "8" "10467124" "10467124" "subst" "0.298014" "02325" "RP1L1_000049" "g.10467124G>C" "" "" "" "RP1L1(NM_178857.6):c.4484C>G (p.P1495R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609614G>C" "" "benign" ""
"0000297727" "0" "10" "8" "10466482" "10466482" "subst" "0.374479" "02325" "RP1L1_000041" "g.10466482G>A" "" "" "" "RP1L1(NM_178857.6):c.5126C>T (p.A1709V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608972G>A" "" "benign" ""
"0000297728" "0" "10" "8" "10465771" "10465771" "subst" "0" "02325" "RP1L1_000034" "g.10465771G>T" "" "" "" "RP1L1(NM_178857.5):c.5837C>A (p.A1946E), RP1L1(NM_178857.6):c.5837C>A (p.A1946E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608261G>T" "" "benign" ""
"0000297729" "0" "10" "8" "10465748" "10465748" "subst" "0.613747" "02325" "RP1L1_000033" "g.10465748T>C" "" "" "" "RP1L1(NM_178857.5):c.5860A>G (p.T1954A), RP1L1(NM_178857.6):c.5860A>G (p.T1954A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608238T>C" "" "benign" ""
"0000297730" "0" "10" "8" "10465097" "10465097" "subst" "0.370145" "02325" "RP1L1_000026" "g.10465097C>T" "" "" "" "RP1L1(NM_178857.6):c.6511G>A (p.E2171K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607587C>T" "" "benign" ""
"0000297731" "0" "10" "8" "10474042" "10474042" "subst" "0.185588" "02325" "RP1L1_000129" "g.10474042T>G" "" "" "" "RP1L1(NM_178857.6):c.665A>C (p.H222P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10616532T>G" "" "benign" ""
"0000297732" "0" "10" "8" "10464885" "10464885" "subst" "0.618965" "02325" "RP1L1_000151" "g.10464885T>C" "" "" "" "RP1L1(NM_178857.6):c.6723A>G (p.S2241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607375T>C" "" "benign" ""
"0000297733" "0" "10" "8" "10464755" "10464755" "subst" "0.479071" "02325" "RP1L1_000020" "g.10464755C>T" "" "" "" "RP1L1(NM_178857.6):c.6853G>A (p.G2285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607245C>T" "" "benign" ""
"0000307224" "0" "30" "8" "10470516" "10470516" "subst" "0" "01943" "RP1L1_000118" "g.10470516G>C" "" "" "" "RP1L1(NM_178857.5):c.1092C>G (p.P364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613006G>C" "" "likely benign" ""
"0000307225" "0" "50" "8" "10470470" "10470470" "subst" "0.00225143" "01943" "RP1L1_000116" "g.10470470C>T" "" "" "" "RP1L1(NM_178857.5):c.1138G>A (p.G380R), RP1L1(NM_178857.6):c.1138G>A (p.G380R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612960C>T" "" "VUS" ""
"0000307226" "0" "30" "8" "10480582" "10480582" "subst" "0.0110891" "01943" "RP1L1_000149" "g.10480582G>C" "" "" "" "RP1L1(NM_178857.5):c.130C>G (p.P44A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10623072G>C" "" "likely benign" ""
"0000307227" "0" "30" "8" "10470288" "10470288" "subst" "0.00355688" "01943" "RP1L1_000112" "g.10470288G>A" "" "" "" "RP1L1(NM_178857.5):c.1320C>T (p.H440=), RP1L1(NM_178857.6):c.1320C>T (p.H440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612778G>A" "" "likely benign" ""
"0000307228" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "01943" "RP1L1_000006" "g.10480579G>A" "" "" "" "RP1L1(NM_178857.5):c.133C>T (p.R45W), RP1L1(NM_178857.6):c.133C>T (p.R45W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000307229" "0" "50" "8" "10480564" "10480564" "subst" "9.44853E-5" "01943" "RP1L1_000148" "g.10480564G>A" "" "" "" "RP1L1(NM_178857.5):c.148C>T (p.R50C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10623054G>A" "" "VUS" ""
"0000307230" "0" "30" "8" "10470099" "10470099" "subst" "9.86033E-5" "01943" "RP1L1_000110" "g.10470099G>A" "" "" "" "RP1L1(NM_178857.5):c.1509C>T (p.P503=), RP1L1(NM_178857.6):c.1509C>T (p.P503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612589G>A" "" "likely benign" ""
"0000307231" "0" "30" "8" "10469901" "10469901" "subst" "0.000139431" "01943" "RP1L1_000106" "g.10469901G>A" "" "" "" "RP1L1(NM_178857.5):c.1707C>T (p.S569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612391G>A" "" "likely benign" ""
"0000307232" "0" "30" "8" "10469765" "10469765" "subst" "1.63133E-5" "01943" "RP1L1_000102" "g.10469765G>A" "" "" "" "RP1L1(NM_178857.5):c.1843C>T (p.L615F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612255G>A" "" "likely benign" ""
"0000307233" "0" "30" "8" "10469637" "10469637" "subst" "0" "01943" "RP1L1_000101" "g.10469637G>A" "" "" "" "RP1L1(NM_178857.5):c.1971C>T (p.G657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612127G>A" "" "likely benign" ""
"0000307234" "0" "10" "8" "10469559" "10469559" "subst" "0.00296971" "01943" "RP1L1_000100" "g.10469559G>A" "" "" "" "RP1L1(NM_178857.5):c.2049C>T (p.T683=), RP1L1(NM_178857.6):c.2049C>T (p.T683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612049G>A" "" "benign" ""
"0000307235" "0" "30" "8" "10469370" "10469370" "subst" "0.000780069" "01943" "RP1L1_000097" "g.10469370C>T" "" "" "" "RP1L1(NM_178857.5):c.2238G>A (p.S746=), RP1L1(NM_178857.6):c.2238G>A (p.S746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611860C>T" "" "likely benign" ""
"0000307236" "0" "50" "8" "10480477" "10480477" "subst" "0.00013871" "01943" "RP1L1_000143" "g.10480477G>A" "" "" "" "RP1L1(NM_178857.5):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622967G>A" "" "VUS" ""
"0000307237" "0" "30" "8" "10480463" "10480463" "subst" "0.000685798" "01943" "RP1L1_000142" "g.10480463T>C" "" "" "" "RP1L1(NM_178857.5):c.249A>G (p.T83=), RP1L1(NM_178857.6):c.249A>G (p.T83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622953T>C" "" "likely benign" ""
"0000307238" "0" "30" "8" "10469025" "10469025" "subst" "0.000681652" "01943" "RP1L1_000091" "g.10469025G>A" "" "" "" "RP1L1(NM_178857.5):c.2583C>T (p.P861=), RP1L1(NM_178857.6):c.2583C>T (p.P861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611515G>A" "" "likely benign" ""
"0000307239" "0" "30" "8" "10468979" "10468979" "subst" "0.000251036" "01943" "RP1L1_000089" "g.10468979G>A" "" "" "" "RP1L1(NM_178857.5):c.2629C>T (p.H877Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611469G>A" "" "likely benign" ""
"0000307240" "0" "30" "8" "10468964" "10468964" "subst" "0.00265569" "01943" "RP1L1_000088" "g.10468964G>A" "" "" "" "RP1L1(NM_178857.5):c.2644C>T (p.R882W), RP1L1(NM_178857.6):c.2644C>T (p.R882W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611454G>A" "" "likely benign" ""
"0000307241" "0" "30" "8" "10480439" "10480439" "subst" "0.00186402" "01943" "RP1L1_000141" "g.10480439G>A" "" "" "" "RP1L1(NM_178857.5):c.273C>T (p.S91=), RP1L1(NM_178857.6):c.273C>T (p.S91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622929G>A" "" "likely benign" ""
"0000307242" "0" "50" "8" "10468817" "10468817" "subst" "1.22518E-5" "01943" "RP1L1_000085" "g.10468817C>A" "" "" "" "RP1L1(NM_178857.5):c.2791G>T (p.G931W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611307C>A" "" "VUS" ""
"0000307243" "0" "30" "8" "10468801" "10468801" "subst" "3.67452E-5" "01943" "RP1L1_000084" "g.10468801C>T" "" "" "" "RP1L1(NM_178857.5):c.2807G>A (p.G936E), RP1L1(NM_178857.6):c.2807G>A (p.G936E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611291C>T" "" "likely benign" ""
"0000307244" "0" "30" "8" "10468541" "10468541" "subst" "0.00027784" "01943" "RP1L1_000082" "g.10468541C>G" "" "" "" "RP1L1(NM_178857.5):c.3067G>C (p.E1023Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611031C>G" "" "likely benign" ""
"0000307245" "0" "10" "8" "10468353" "10468353" "subst" "0.00213378" "01943" "RP1L1_000081" "g.10468353G>C" "" "" "" "RP1L1(NM_178857.5):c.3255C>G (p.I1085M), RP1L1(NM_178857.6):c.3255C>G (p.I1085M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610843G>C" "" "benign" ""
"0000307246" "0" "50" "8" "10480383" "10480383" "subst" "1.23989E-5" "01943" "RP1L1_000140" "g.10480383G>C" "" "" "" "RP1L1(NM_178857.5):c.329C>G (p.P110R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622873G>C" "" "VUS" ""
"0000307247" "0" "30" "8" "10468017" "10468017" "subst" "6.09513E-5" "01943" "RP1L1_000078" "g.10468017G>A" "" "" "" "RP1L1(NM_178857.5):c.3591C>T (p.S1197=), RP1L1(NM_178857.6):c.3591C>T (p.S1197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610507G>A" "" "likely benign" ""
"0000307248" "0" "30" "8" "10467676" "10467676" "subst" "0" "01943" "RP1L1_000076" "g.10467676T>C" "" "" "" "RP1L1(NM_178857.5):c.3932A>G (p.E1311G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610166T>C" "" "likely benign" ""
"0000307249" "0" "30" "8" "10467653" "10467653" "subst" "0.0150801" "01943" "RP1L1_000073" "g.10467653C>T" "" "" "" "RP1L1(NM_178857.5):c.3955G>A (p.A1319T), RP1L1(NM_178857.6):c.3955G>A (p.A1319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610143C>T" "" "likely benign" ""
"0000307251" "0" "10" "8" "10467652" "10467652" "subst" "0" "01943" "RP1L1_000071" "g.10467652G>C" "" "" "" "RP1L1(NM_178857.5):c.3956C>G (p.A1319G), RP1L1(NM_178857.6):c.3956C>G (p.A1319G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610142G>C" "" "benign" ""
"0000307255" "0" "30" "8" "10467637" "10467637" "subst" "0" "01943" "RP1L1_000069" "g.10467637T>C" "" "" "" "RP1L1(NM_178857.5):c.3971A>G (p.E1324G), RP1L1(NM_178857.6):c.3971A>G (p.E1324G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610127T>C" "" "likely benign" ""
"0000307256" "0" "30" "8" "10467636" "10467636" "subst" "0.0847711" "01943" "RP1L1_000190" "g.10467636T>C" "" "" "" "RP1L1(NM_178857.5):c.3972A>G (p.E1324=), RP1L1(NM_178857.6):c.3972A>G (p.E1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610126T>C" "" "likely benign" ""
"0000307257" "0" "30" "8" "10467629" "10467629" "subst" "0" "01943" "RP1L1_000187" "g.10467629T>C" "" "" "" "RP1L1(NM_178857.5):c.3979A>G (p.T1327A), RP1L1(NM_178857.6):c.3979A>G (p.T1327A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610119T>C" "" "likely benign" ""
"0000307258" "0" "30" "8" "10467628" "10467628" "subst" "0.0784683" "01943" "RP1L1_000186" "g.10467628G>A" "" "" "" "RP1L1(NM_178857.5):c.3980C>T (p.T1327I), RP1L1(NM_178857.6):c.3980C>T (p.T1327I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610118G>A" "" "likely benign" ""
"0000307259" "0" "30" "8" "10467627" "10467627" "subst" "0" "01943" "RP1L1_000184" "g.10467627T>C" "" "" "" "RP1L1(NM_178857.5):c.3981A>G (p.T1327=), RP1L1(NM_178857.6):c.3981A>G (p.T1327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610117T>C" "" "likely benign" ""
"0000307260" "0" "30" "8" "10467626" "10467626" "subst" "0.0788609" "01943" "RP1L1_000183" "g.10467626C>T" "" "" "" "RP1L1(NM_178857.5):c.3982G>A (p.E1328K), RP1L1(NM_178857.6):c.3982G>A (p.E1328K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610116C>T" "" "likely benign" ""
"0000307261" "0" "30" "8" "10467625" "10467625" "subst" "0.079208" "01943" "RP1L1_000182" "g.10467625T>A" "" "" "" "RP1L1(NM_178857.5):c.3983A>T (p.E1328V), RP1L1(NM_178857.6):c.3983A>T (p.E1328V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610115T>A" "" "likely benign" ""
"0000307262" "0" "30" "8" "10467606" "10467606" "subst" "0.00114319" "01943" "RP1L1_000066" "g.10467606C>T" "" "" "" "RP1L1(NM_178857.5):c.4002G>A (p.E1334=), RP1L1(NM_178857.6):c.4002G>A (p.E1334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610096C>T" "" "likely benign" ""
"0000307263" "0" "50" "8" "10467605" "10467605" "subst" "0.0244133" "01943" "RP1L1_000174" "g.10467605C>T" "" "" "" "RP1L1(NM_178857.5):c.4003G>A (p.G1335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610095C>T" "" "VUS" ""
"0000307265" "0" "10" "8" "10467588" "10467588" "subst" "0.145173" "01943" "RP1L1_000061" "g.10467588T>C" "" "" "" "RP1L1(NM_178857.5):c.4020A>G (p.E1340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610078T>C" "" "benign" ""
"0000307266" "0" "30" "8" "10467581" "10467583" "del" "2.63085E-5" "01943" "RP1L1_000059" "g.10467581_10467583del" "" "" "" "RP1L1(NM_178857.5):c.4027_4029delGAA (p.E1343del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610071_10610073del" "" "likely benign" ""
"0000307267" "0" "10" "8" "10467576" "10467576" "subst" "0.331553" "01943" "RP1L1_000058" "g.10467576T>C" "" "" "" "RP1L1(NM_178857.5):c.4032A>G (p.T1344=), RP1L1(NM_178857.6):c.4032A>G (p.T1344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610066T>C" "" "benign" ""
"0000307268" "0" "30" "8" "10467564" "10467564" "subst" "0.000724501" "01943" "RP1L1_000057" "g.10467564T>C" "" "" "" "RP1L1(NM_178857.5):c.4044A>G (p.G1348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610054T>C" "" "likely benign" ""
"0000307269" "0" "30" "8" "10480305" "10480305" "subst" "0.00352901" "01943" "RP1L1_000138" "g.10480305C>T" "" "" "" "RP1L1(NM_178857.5):c.407G>A (p.R136H), RP1L1(NM_178857.6):c.407G>A (p.R136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622795C>T" "" "likely benign" ""
"0000307270" "0" "10" "8" "10467503" "10467503" "subst" "0.00143002" "01943" "RP1L1_000056" "g.10467503C>T" "" "" "" "RP1L1(NM_178857.5):c.4105G>A (p.E1369K), RP1L1(NM_178857.6):c.4105G>A (p.E1369K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609993C>T" "" "benign" ""
"0000307271" "0" "30" "8" "10480292" "10480292" "subst" "0.0014085" "01943" "RP1L1_000136" "g.10480292G>T" "" "" "" "RP1L1(NM_178857.5):c.420C>A (p.G140=), RP1L1(NM_178857.6):c.420C>A (p.G140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622782G>T" "" "likely benign" ""
"0000307272" "0" "30" "8" "10467164" "10467164" "subst" "0.00160125" "01943" "RP1L1_000051" "g.10467164C>T" "" "" "" "RP1L1(NM_178857.5):c.4444G>A (p.G1482R), RP1L1(NM_178857.6):c.4444G>A (p.G1482R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609654C>T" "" "likely benign" ""
"0000307273" "0" "30" "8" "10467126" "10467126" "subst" "0.00307404" "01943" "RP1L1_000050" "g.10467126T>C" "" "" "" "RP1L1(NM_178857.5):c.4482A>G (p.Q1494=), RP1L1(NM_178857.6):c.4482A>G (p.Q1494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609616T>C" "" "likely benign" ""
"0000307274" "0" "30" "8" "10467122" "10467122" "subst" "3.75855E-5" "01943" "RP1L1_000048" "g.10467122T>G" "" "" "" "RP1L1(NM_178857.5):c.4486A>C (p.T1496P), RP1L1(NM_178857.6):c.4486A>C (p.T1496P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609612T>G" "" "likely benign" ""
"0000307275" "0" "10" "8" "10466946" "10466946" "subst" "0.00252816" "01943" "RP1L1_000047" "g.10466946G>C" "" "" "" "RP1L1(NM_178857.5):c.4662C>G (p.D1554E), RP1L1(NM_178857.6):c.4662C>G (p.D1554E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609436G>C" "" "benign" ""
"0000307276" "0" "30" "8" "10466937" "10466937" "subst" "0.000945078" "01943" "RP1L1_000046" "g.10466937C>T" "" "" "" "RP1L1(NM_178857.5):c.4671G>A (p.A1557=), RP1L1(NM_178857.6):c.4671G>A (p.A1557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609427C>T" "" "likely benign" ""
"0000307277" "0" "90" "8" "10480237" "10480237" "del" "0" "01943" "RP1L1_000134" "g.10480237del" "" "" "" "RP1L1(NM_178857.5):c.476delA (p.N159Tfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622727del" "" "pathogenic" ""
"0000307278" "0" "30" "8" "10466811" "10466811" "subst" "0.000490323" "01943" "RP1L1_000045" "g.10466811C>A" "" "" "" "RP1L1(NM_178857.5):c.4797G>T (p.L1599=), RP1L1(NM_178857.6):c.4797G>T (p.L1599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609301C>A" "" "likely benign" ""
"0000307279" "0" "30" "8" "10466757" "10466757" "subst" "1.67794E-5" "01943" "RP1L1_000044" "g.10466757C>G" "" "" "" "RP1L1(NM_178857.5):c.4851G>C (p.S1617=), RP1L1(NM_178857.6):c.4851G>C (p.S1617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609247C>G" "" "likely benign" ""
"0000307280" "0" "30" "8" "10466743" "10466743" "subst" "0.00382469" "01943" "RP1L1_000043" "g.10466743C>T" "" "" "" "RP1L1(NM_178857.5):c.4865G>A (p.R1622Q), RP1L1(NM_178857.6):c.4865G>A (p.R1622Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609233C>T" "" "likely benign" ""
"0000307281" "0" "30" "8" "10466484" "10466484" "subst" "0.000365824" "01943" "RP1L1_000042" "g.10466484C>T" "" "" "" "RP1L1(NM_178857.5):c.5124G>A (p.V1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608974C>T" "" "likely benign" ""
"0000307282" "0" "30" "8" "10466470" "10466470" "subst" "0.000312937" "01943" "RP1L1_000040" "g.10466470G>T" "" "" "" "RP1L1(NM_178857.5):c.5138C>A (p.T1713N), RP1L1(NM_178857.6):c.5138C>A (p.T1713N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608960G>T" "" "likely benign" ""
"0000307283" "0" "50" "8" "10466200" "10466200" "subst" "0" "01943" "RP1L1_000039" "g.10466200G>C" "" "" "" "RP1L1(NM_178857.5):c.5408C>G (p.T1803S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608690G>C" "" "VUS" ""
"0000307284" "0" "50" "8" "10465990" "10465990" "subst" "0.000562399" "01943" "RP1L1_000037" "g.10465990T>A" "" "" "" "RP1L1(NM_178857.5):c.5618A>T (p.D1873V), RP1L1(NM_178857.6):c.5618A>T (p.D1873V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608480T>A" "" "VUS" ""
"0000307285" "0" "30" "8" "10465815" "10465815" "subst" "0.000203184" "01943" "RP1L1_000036" "g.10465815G>A" "" "" "" "RP1L1(NM_178857.5):c.5793C>T (p.D1931=), RP1L1(NM_178857.6):c.5793C>T (p.D1931=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608305G>A" "" "likely benign" ""
"0000307286" "0" "30" "8" "10465809" "10465809" "subst" "4.06339E-6" "01943" "RP1L1_000035" "g.10465809T>C" "" "" "" "RP1L1(NM_178857.5):c.5799A>G (p.P1933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608299T>C" "" "likely benign" ""
"0000307287" "0" "50" "8" "10465790" "10465790" "subst" "0" "01943" "RP1L1_000170" "g.10465790C>A" "" "" "" "RP1L1(NM_178857.5):c.5818G>T (p.A1940S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608280C>A" "" "VUS" ""
"0000307288" "0" "10" "8" "10465771" "10465771" "subst" "0" "01943" "RP1L1_000034" "g.10465771G>T" "" "" "" "RP1L1(NM_178857.5):c.5837C>A (p.A1946E), RP1L1(NM_178857.6):c.5837C>A (p.A1946E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608261G>T" "" "benign" ""
"0000307289" "0" "10" "8" "10465748" "10465748" "subst" "0.613747" "01943" "RP1L1_000033" "g.10465748T>C" "" "" "" "RP1L1(NM_178857.5):c.5860A>G (p.T1954A), RP1L1(NM_178857.6):c.5860A>G (p.T1954A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608238T>C" "" "benign" ""
"0000307290" "0" "30" "8" "10465430" "10465430" "subst" "4.06161E-6" "01943" "RP1L1_000031" "g.10465430C>T" "" "" "" "RP1L1(NM_178857.5):c.6178G>A (p.A2060T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607920C>T" "" "likely benign" ""
"0000307291" "0" "50" "8" "10465245" "10465289" "del" "0" "01943" "RP1L1_000169" "g.10465245_10465289del" "" "" "" "RP1L1(NM_178857.5):c.6334_6378del (p.K2112_Q2126del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607735_10607779del" "" "VUS" ""
"0000307292" "0" "50" "8" "10465211" "10465211" "subst" "4.06339E-6" "01943" "RP1L1_000028" "g.10465211C>T" "" "" "" "RP1L1(NM_178857.5):c.6397G>A (p.E2133K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607701C>T" "" "VUS" ""
"0000307293" "0" "50" "8" "10465204" "10465204" "subst" "0" "01943" "RP1L1_000027" "g.10465204G>T" "" "" "" "RP1L1(NM_178857.5):c.6404C>A (p.P2135Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607694G>T" "" "VUS" ""
"0000307294" "0" "30" "8" "10465063" "10465063" "subst" "0.00725844" "01943" "RP1L1_000025" "g.10465063G>T" "" "" "" "RP1L1(NM_178857.5):c.6545C>A (p.A2182D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607553G>T" "" "likely benign" ""
"0000307295" "0" "50" "8" "10465006" "10465006" "subst" "2.84308E-5" "01943" "RP1L1_000024" "g.10465006G>A" "" "" "" "RP1L1(NM_178857.5):c.6602C>T (p.A2201V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607496G>A" "" "VUS" ""
"0000307296" "0" "30" "8" "10464796" "10464796" "subst" "0.00325026" "01943" "RP1L1_000021" "g.10464796G>C" "" "" "" "RP1L1(NM_178857.5):c.6812C>G (p.P2271R), RP1L1(NM_178857.6):c.6812C>G (p.P2271R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607286G>C" "" "likely benign" ""
"0000307297" "0" "30" "8" "10470816" "10470816" "subst" "0.000166307" "01943" "RP1L1_000126" "g.10470816C>T" "" "" "" "RP1L1(NM_178857.5):c.792G>A (p.S264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613306C>T" "" "likely benign" ""
"0000307298" "0" "50" "8" "10470815" "10470815" "subst" "0.000336792" "01943" "RP1L1_000125" "g.10470815G>C" "" "" "" "RP1L1(NM_178857.5):c.793C>G (p.R265G), RP1L1(NM_178857.6):c.793C>G (p.R265G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613305G>C" "" "VUS" ""
"0000307299" "0" "90" "8" "10470778" "10470778" "del" "0" "01943" "RP1L1_000123" "g.10470778del" "" "" "" "RP1L1(NM_178857.5):c.831delG (p.R277Sfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613268del" "" "pathogenic" ""
"0000307300" "0" "30" "8" "10470691" "10470691" "subst" "7.79065E-5" "01943" "RP1L1_000122" "g.10470691C>G" "" "" "" "RP1L1(NM_178857.5):c.917G>C (p.G306A), RP1L1(NM_178857.6):c.917G>C (p.G306A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613181C>G" "" "likely benign" ""
"0000307301" "0" "10" "8" "10470654" "10470654" "subst" "0.00290181" "01943" "RP1L1_000121" "g.10470654G>A" "" "" "" "RP1L1(NM_178857.5):c.954C>T (p.D318=), RP1L1(NM_178857.6):c.954C>T (p.D318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613144G>A" "" "benign" ""
"0000307302" "0" "50" "8" "10470652" "10470652" "subst" "0" "01943" "RP1L1_000120" "g.10470652C>A" "" "" "" "RP1L1(NM_178857.5):c.956G>T (p.G319V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613142C>A" "" "VUS" ""
"0000307303" "0" "30" "8" "10470627" "10470627" "subst" "4.08764E-5" "01943" "RP1L1_000119" "g.10470627G>A" "" "" "" "RP1L1(NM_178857.5):c.981C>T (p.V327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613117G>A" "" "likely benign" ""
"0000336947" "0" "10" "8" "10474110" "10474110" "subst" "0.134712" "02327" "RP1L1_000164" "g.10474110C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10616600C>T" "" "benign" ""
"0000339250" "0" "10" "8" "10464885" "10464885" "subst" "0.618965" "02327" "RP1L1_000151" "g.10464885T>C" "" "" "" "RP1L1(NM_178857.6):c.6723A>G (p.S2241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607375T>C" "" "benign" ""
"0000339251" "0" "10" "8" "10467576" "10467576" "subst" "0.331553" "02327" "RP1L1_000058" "g.10467576T>C" "" "" "" "RP1L1(NM_178857.5):c.4032A>G (p.T1344=), RP1L1(NM_178857.6):c.4032A>G (p.T1344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610066T>C" "" "benign" ""
"0000339252" "0" "10" "8" "10469340" "10469340" "subst" "0.171404" "02327" "RP1L1_000161" "g.10469340G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611830G>A" "" "benign" ""
"0000339253" "0" "10" "8" "10469817" "10469817" "subst" "0.844577" "02327" "RP1L1_000104" "g.10469817G>A" "" "" "" "RP1L1(NM_178857.6):c.1791C>T (p.G597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612307G>A" "" "benign" ""
"0000339254" "0" "10" "8" "10480268" "10480268" "subst" "0.00556704" "02327" "RP1L1_000135" "g.10480268A>C" "" "" "" "RP1L1(NM_178857.5):c.444T>G (p.L148=), RP1L1(NM_178857.6):c.444T>G (p.L148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622758A>C" "" "benign" ""
"0000341146" "0" "10" "8" "10467652" "10467652" "subst" "0" "02327" "RP1L1_000071" "g.10467652G>C" "" "" "" "RP1L1(NM_178857.5):c.3956C>G (p.A1319G), RP1L1(NM_178857.6):c.3956C>G (p.A1319G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610142G>C" "" "benign" ""
"0000341180" "0" "10" "8" "10467160" "10467160" "subst" "0.179494" "02327" "RP1L1_000157" "g.10467160G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609650G>A" "" "benign" ""
"0000341211" "0" "10" "8" "10466482" "10466482" "subst" "0.374479" "02327" "RP1L1_000041" "g.10466482G>A" "" "" "" "RP1L1(NM_178857.6):c.5126C>T (p.A1709V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608972G>A" "" "benign" ""
"0000341245" "0" "10" "8" "10465771" "10465771" "subst" "0" "02327" "RP1L1_000034" "g.10465771G>T" "" "" "" "RP1L1(NM_178857.5):c.5837C>A (p.A1946E), RP1L1(NM_178857.6):c.5837C>A (p.A1946E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608261G>T" "" "benign" ""
"0000341753" "0" "10" "8" "10468172" "10468172" "subst" "0.733726" "02327" "RP1L1_000080" "g.10468172G>A" "" "" "" "RP1L1(NM_178857.6):c.3436C>T (p.R1146W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610662G>A" "" "benign" ""
"0000341943" "0" "10" "8" "10467207" "10467207" "subst" "0.984136" "02327" "RP1L1_000052" "g.10467207C>A" "" "" "" "RP1L1(NM_178857.6):c.4401G>T (p.R1467S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609697C>A" "" "benign" ""
"0000342150" "0" "30" "8" "10480144" "10480144" "subst" "0.00200366" "02327" "RP1L1_000130" "g.10480144G>A" "" "" "" "RP1L1(NM_178857.5):c.568C>T (p.R190C), RP1L1(NM_178857.6):c.568C>T (p.R190C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622634G>A" "" "likely benign" ""
"0000342939" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "02327" "RP1L1_000006" "g.10480579G>A" "" "" "" "RP1L1(NM_178857.5):c.133C>T (p.R45W), RP1L1(NM_178857.6):c.133C>T (p.R45W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000343615" "0" "50" "8" "10480237" "10480237" "subst" "8.12599E-6" "02327" "RP1L1_000166" "g.10480237T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622727T>A" "" "VUS" ""
"0000343972" "0" "10" "8" "10465942" "10465942" "subst" "0.258732" "02327" "RP1L1_000156" "g.10465942T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608432T>A" "" "benign" ""
"0000344650" "0" "10" "8" "10465344" "10465344" "subst" "0.131022" "02327" "RP1L1_000154" "g.10465344C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607834C>A" "" "benign" ""
"0000344911" "0" "30" "8" "10469840" "10469840" "subst" "0" "02327" "RP1L1_000162" "g.10469840G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612330G>A" "" "likely benign" ""
"0000345115" "0" "10" "8" "10467589" "10467589" "subst" "0" "02327" "RP1L1_000158" "g.10467589T>C" "" "" "" "RP1L1(NM_178857.6):c.4019A>G (p.(Glu1340Gly), p.E1340G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610079T>C" "" "benign" ""
"0000345228" "0" "10" "8" "10465399" "10465399" "subst" "0.130628" "02327" "RP1L1_000155" "g.10465399T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607889T>A" "" "benign" ""
"0000345240" "0" "10" "8" "10465190" "10465190" "subst" "0.137285" "02327" "RP1L1_000153" "g.10465190C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607680C>T" "" "benign" ""
"0000345699" "0" "10" "8" "10467604" "10467604" "subst" "0" "02327" "RP1L1_000159" "g.10467604C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10610094C>A" "" "benign" ""
"0000345887" "0" "10" "8" "10464755" "10464755" "subst" "0.479071" "02327" "RP1L1_000020" "g.10464755C>T" "" "" "" "RP1L1(NM_178857.6):c.6853G>A (p.G2285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607245C>T" "" "benign" ""
"0000346041" "0" "10" "8" "10470470" "10470470" "subst" "0.00225143" "02327" "RP1L1_000116" "g.10470470C>T" "" "" "" "RP1L1(NM_178857.5):c.1138G>A (p.G380R), RP1L1(NM_178857.6):c.1138G>A (p.G380R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612960C>T" "" "benign" ""
"0000346133" "0" "10" "8" "10470068" "10470068" "subst" "0.383323" "02327" "RP1L1_000109" "g.10470068C>T" "" "" "" "RP1L1(NM_178857.6):c.1540G>A (p.G514S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10612558C>T" "" "benign" ""
"0000346412" "0" "10" "8" "10474042" "10474042" "subst" "0.185588" "02327" "RP1L1_000129" "g.10474042T>G" "" "" "" "RP1L1(NM_178857.6):c.665A>C (p.H222P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10616532T>G" "" "benign" ""
"0000346417" "0" "10" "8" "10464604" "10464604" "subst" "0.0313668" "02327" "RP1L1_000150" "g.10464604T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607094T>C" "" "benign" ""
"0000347309" "0" "10" "8" "10469233" "10469233" "subst" "0.416258" "02327" "RP1L1_000095" "g.10469233A>G" "" "" "" "RP1L1(NM_178857.6):c.2375T>C (p.L792P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611723A>G" "" "benign" ""
"0000348204" "0" "10" "8" "10467124" "10467124" "subst" "0.298014" "02327" "RP1L1_000049" "g.10467124G>C" "" "" "" "RP1L1(NM_178857.6):c.4484C>G (p.P1495R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10609614G>C" "" "benign" ""
"0000348292" "0" "30" "8" "10464935" "10464935" "subst" "4.06431E-6" "02327" "RP1L1_000152" "g.10464935G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10607425G>A" "" "likely benign" ""
"0000349250" "0" "10" "8" "10480377" "10480377" "subst" "0.0476762" "02327" "RP1L1_000167" "g.10480377G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622867G>C" "" "benign" ""
"0000349349" "0" "10" "8" "10465748" "10465748" "subst" "0.613747" "02327" "RP1L1_000033" "g.10465748T>C" "" "" "" "RP1L1(NM_178857.5):c.5860A>G (p.T1954A), RP1L1(NM_178857.6):c.5860A>G (p.T1954A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10608238T>C" "" "benign" ""
"0000349351" "0" "50" "8" "10480120" "10480120" "subst" "0" "02327" "RP1L1_000165" "g.10480120T>C" "" "" "" "RP1L1(NM_178857.5):c.592A>G (p.T198A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622610T>C" "" "VUS" ""
"0000350816" "0" "10" "8" "10469030" "10469030" "subst" "0.177597" "02327" "RP1L1_000160" "g.10469030G>A" "" "" "" "(p.Arg860Trp)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10611520G>A" "" "benign" ""
"0000350817" "0" "50" "8" "10470578" "10470578" "subst" "2.04028E-5" "02327" "RP1L1_000163" "g.10470578C>A" "" "" "" "RP1L1(NM_178857.5):c.1030G>T (p.G344C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10613068C>A" "" "VUS" ""
"0000350818" "0" "50" "8" "10480462" "10480462" "subst" "4.0782E-6" "02327" "RP1L1_000168" "g.10480462G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10622952G>A" "" "VUS" ""
"0000406017" "11" "50" "8" "10465490" "10465490" "subst" "6.90653E-5" "02552" "RP1L1_000194" "g.10465490C>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs201774530" "0" "" "" "g.10607980C>A" "" "VUS" ""
"0000476723" "0" "90" "8" "10464405" "10464405" "subst" "0.000129971" "02591" "RP1L1_000195" "g.10464405C>G" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs143762729" "0" "" "" "g.10606895C>G" "" "pathogenic" ""
"0000476724" "0" "50" "8" "10464417" "10464417" "subst" "4.06174E-6" "02591" "RP1L1_000196" "g.10464417G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs767834634" "0" "" "" "g.10606907G>C" "" "VUS" ""
"0000476725" "0" "50" "8" "10464476" "10464476" "subst" "2.8428E-5" "02591" "RP1L1_000197" "g.10464476G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs554228490" "0" "" "" "g.10606966G>A" "" "VUS" ""
"0000476726" "0" "50" "8" "10464629" "10464629" "subst" "1.21829E-5" "02591" "RP1L1_000198" "g.10464629C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs775506511" "0" "" "" "g.10607119C>G" "" "VUS" ""
"0000476727" "0" "50" "8" "10464676" "10464676" "subst" "1.62447E-5" "02591" "RP1L1_000199" "g.10464676T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs749354251" "0" "" "" "g.10607166T>G" "" "VUS" ""
"0000476728" "0" "10" "8" "10464755" "10464755" "subst" "0.479071" "02591" "RP1L1_000020" "g.10464755C>T" "572/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs55642448" "0" "" "" "g.10607245C>T" "" "benign" ""
"0000476729" "0" "50" "8" "10464910" "10464910" "subst" "0" "02591" "RP1L1_000200" "g.10464910G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10607400G>T" "" "VUS" ""
"0000476730" "0" "10" "8" "10465012" "10465012" "subst" "0.0603524" "02591" "RP1L1_000201" "g.10465012G>A" "16/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs75797924" "0" "" "" "g.10607502G>A" "" "benign" ""
"0000476731" "0" "50" "8" "10465024" "10465024" "subst" "1.62464E-5" "02591" "RP1L1_000202" "g.10465024C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201246119" "0" "" "" "g.10607514C>G" "" "VUS" ""
"0000476732" "0" "50" "8" "10465056" "10465056" "subst" "0" "02591" "RP1L1_000203" "g.10465056C>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10607546C>A" "" "VUS" ""
"0000476733" "0" "50" "8" "10465060" "10465060" "subst" "0" "02591" "RP1L1_000204" "g.10465060G>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10607550G>T" "" "VUS" ""
"0000476734" "0" "10" "8" "10465097" "10465097" "subst" "0.370145" "02591" "RP1L1_000026" "g.10465097C>T" "175/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4354268" "0" "" "" "g.10607587C>T" "" "benign" ""
"0000476735" "0" "10" "8" "10465286" "10465286" "subst" "0.000207112" "02591" "RP1L1_000205" "g.10465286C>T" "41/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs187998469" "0" "" "" "g.10607776C>T" "" "benign" ""
"0000476736" "0" "50" "8" "10465337" "10465337" "subst" "0" "02591" "RP1L1_000206" "g.10465337C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10607827C>T" "" "VUS" ""
"0000476737" "0" "10" "8" "10465344" "10465344" "subst" "0.131022" "02591" "RP1L1_000154" "g.10465344C>A" "502/1201 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11778341" "0" "" "" "g.10607834C>A" "" "benign" ""
"0000476738" "0" "50" "8" "10465379" "10465379" "subst" "4.06177E-6" "02591" "RP1L1_000207" "g.10465379C>T" "1/1190 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs777850114" "0" "" "" "g.10607869C>T" "" "VUS" ""
"0000476739" "0" "10" "8" "10465399" "10465399" "subst" "0.130628" "02591" "RP1L1_000155" "g.10465399T>A" "502/1189 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11782670" "0" "" "" "g.10607889T>A" "" "benign" ""
"0000476740" "0" "50" "8" "10465625" "10465625" "subst" "8.12889E-6" "02591" "RP1L1_000208" "g.10465625G>T" "3/1190 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs538485929" "0" "" "" "g.10608115G>T" "" "VUS" ""
"0000476741" "0" "50" "8" "10465642" "10465642" "subst" "2.03244E-5" "02591" "RP1L1_000209" "g.10465642G>A" "1/1190 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs749665716" "0" "" "" "g.10608132G>A" "" "VUS" ""
"0000476742" "0" "10" "8" "10465748" "10465748" "subst" "0.613747" "02591" "RP1L1_000033" "g.10465748T>C" "172/1193 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11783478" "0" "" "" "g.10608238T>C" "" "benign" ""
"0000476743" "0" "50" "8" "10465769" "10465769" "subst" "0" "02591" "RP1L1_000210" "g.10465769C>A" "1/1193 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608259C>A" "" "VUS" ""
"0000476744" "0" "50" "8" "10465837" "10465837" "subst" "1.21908E-5" "02591" "RP1L1_000211" "g.10465837G>T" "1/1197 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs774309647" "0" "" "" "g.10608327G>T" "" "VUS" ""
"0000476745" "0" "50" "8" "10465840" "10465840" "subst" "0" "02591" "RP1L1_000212" "g.10465840T>C" "1/1197 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608330T>C" "" "VUS" ""
"0000476746" "0" "50" "8" "10465846" "10465846" "subst" "4.06352E-6" "02591" "RP1L1_000213" "g.10465846C>T" "1/1197 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608336C>T" "" "VUS" ""
"0000476747" "0" "50" "8" "10465907" "10465907" "subst" "4.06583E-6" "02591" "RP1L1_000214" "g.10465907G>A" "1/1194 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608397G>A" "" "VUS" ""
"0000476748" "0" "10" "8" "10465942" "10465942" "subst" "0.258732" "02591" "RP1L1_000156" "g.10465942T>A" "494/1191 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs28446662" "0" "" "" "g.10608432T>A" "" "benign" ""
"0000476749" "0" "50" "8" "10465948" "10465948" "subst" "0" "02591" "RP1L1_000215" "g.10465948G>A" "5/1195 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608438G>A" "" "VUS" ""
"0000476750" "0" "50" "8" "10465949" "10465949" "subst" "0" "02591" "RP1L1_000216" "g.10465949A>G" "1/1196 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608439A>G" "" "VUS" ""
"0000476751" "0" "50" "8" "10465969" "10465971" "del" "0" "02591" "RP1L1_000217" "g.10465969_10465971del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608459_10608461del" "" "VUS" ""
"0000476752" "0" "10" "8" "10465990" "10465990" "subst" "6.80321E-5" "02591" "RP1L1_000218" "g.10465990T>C" "55/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200622636" "0" "" "" "g.10608480T>C" "" "benign" ""
"0000476753" "0" "50" "8" "10466170" "10466170" "subst" "0" "02591" "RP1L1_000219" "g.10466170T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608660T>C" "" "VUS" ""
"0000476754" "0" "90" "8" "10466207" "10466207" "subst" "4.06121E-6" "02591" "RP1L1_000220" "g.10466207C>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs764029725" "0" "" "" "g.10608697C>A" "" "pathogenic" ""
"0000476755" "0" "50" "8" "10466279" "10466279" "subst" "0" "02591" "RP1L1_000221" "g.10466279G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608769G>A" "" "VUS" ""
"0000476756" "0" "50" "8" "10466294" "10466294" "subst" "0" "02591" "RP1L1_000222" "g.10466294T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10608784T>C" "" "VUS" ""
"0000476757" "0" "50" "8" "10466476" "10466476" "subst" "0.000479663" "02591" "RP1L1_000223" "g.10466476C>G" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200635063" "0" "" "" "g.10608966C>G" "" "VUS" ""
"0000476758" "0" "10" "8" "10466482" "10466482" "subst" "0.374479" "02591" "RP1L1_000041" "g.10466482G>A" "175/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs13267180" "0" "" "" "g.10608972G>A" "" "benign" ""
"0000476759" "0" "50" "8" "10466564" "10466564" "subst" "0" "02591" "RP1L1_000224" "g.10466564G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10609054G>A" "" "VUS" ""
"0000476760" "0" "50" "8" "10466573" "10466573" "subst" "4.06276E-6" "02591" "RP1L1_000225" "g.10466573T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs747943886" "0" "" "" "g.10609063T>C" "" "VUS" ""
"0000476761" "0" "10" "8" "10466771" "10466771" "subst" "0.000185045" "02591" "RP1L1_000226" "g.10466771G>T" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs181095314" "0" "" "" "g.10609261G>T" "" "benign" ""
"0000476762" "0" "50" "8" "10466773" "10466773" "subst" "4.21308E-6" "02591" "RP1L1_000227" "g.10466773C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs374426762" "0" "" "" "g.10609263C>A" "" "VUS" ""
"0000476763" "0" "50" "8" "10466839" "10466839" "subst" "5.42345E-5" "02591" "RP1L1_000228" "g.10466839G>A" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs372867998" "0" "" "" "g.10609329G>A" "" "VUS" ""
"0000476764" "0" "90" "8" "10466958" "10466958" "subst" "8.26685E-6" "02591" "RP1L1_000229" "g.10466958A>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs760013790" "0" "" "" "g.10609448A>C" "" "pathogenic" ""
"0000476765" "0" "50" "8" "10466978" "10466978" "subst" "7.01882E-5" "02591" "RP1L1_000230" "g.10466978G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs374999818" "0" "" "" "g.10609468G>A" "" "VUS" ""
"0000476766" "0" "10" "8" "10467124" "10467124" "subst" "0.298014" "02591" "RP1L1_000049" "g.10467124G>C" "525/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4841399" "0" "" "" "g.10609614G>C" "" "benign" ""
"0000476767" "0" "10" "8" "10467160" "10467160" "subst" "0.179494" "02591" "RP1L1_000157" "g.10467160G>A" "333/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62490855" "0" "" "" "g.10609650G>A" "" "benign" ""
"0000476768" "0" "50" "8" "10467335" "10467335" "subst" "0.00040619" "02591" "RP1L1_000231" "g.10467335C>G" "43/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201205913" "0" "" "" "g.10609825C>G" "" "VUS" ""
"0000476769" "0" "50" "8" "10467361" "10467361" "subst" "4.87381E-5" "02591" "RP1L1_000055" "g.10467361G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs372721717" "0" "" "" "g.10609851G>A" "" "VUS" ""
"0000476770" "0" "50" "8" "10467400" "10467400" "subst" "0" "02591" "RP1L1_000232" "g.10467400C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10609890C>T" "" "VUS" ""
"0000476771" "0" "50" "8" "10467440" "10467440" "subst" "0" "02591" "RP1L1_000233" "g.10467440G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10609930G>A" "" "VUS" ""
"0000476772" "0" "50" "8" "10467458" "10467458" "subst" "0" "02591" "RP1L1_000234" "g.10467458C>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10609948C>G" "" "VUS" ""
"0000476773" "0" "50" "8" "10467604" "10467604" "subst" "0" "02591" "RP1L1_000235" "g.10467604C>G" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10610094C>G" "" "VUS" ""
"0000476774" "0" "50" "8" "10467624" "10467625" "ins" "0" "02591" "RP1L1_000236" "g.10467624_10467625insCCT" "100/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10610114_10610115insCCT" "" "VUS" ""
"0000476775" "0" "50" "8" "10467625" "10467625" "subst" "0.079208" "02591" "RP1L1_000182" "g.10467625T>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs141205444" "0" "" "" "g.10610115T>A" "" "VUS" ""
"0000476776" "0" "50" "8" "10467626" "10467626" "subst" "0.0788609" "02591" "RP1L1_000183" "g.10467626C>T" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs141046710" "0" "" "" "g.10610116C>T" "" "VUS" ""
"0000476777" "0" "50" "8" "10467628" "10467628" "subst" "0.0784683" "02591" "RP1L1_000186" "g.10467628G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs143544262" "0" "" "" "g.10610118G>A" "" "VUS" ""
"0000476778" "0" "10" "8" "10467631" "10467632" "ins" "0" "02591" "RP1L1_000237" "g.10467631_10467632insCTT" "430/1198 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs146656804" "0" "" "" "g.10610121_10610122insCTT" "" "benign" ""
"0000476779" "0" "50" "8" "10467637" "10467637" "subst" "0" "02591" "RP1L1_000069" "g.10467637T>C" "463/1191 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4240659" "0" "" "" "g.10610127T>C" "" "VUS" ""
"0000476780" "0" "90" "8" "10467647" "10467647" "subst" "0" "02591" "RP1L1_000238" "g.10467647G>A" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10610137G>A" "" "pathogenic" ""
"0000476781" "0" "10" "8" "10467652" "10467652" "subst" "0" "02591" "RP1L1_000071" "g.10467652G>C" "505/1197 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4840501" "0" "" "" "g.10610142G>C" "" "benign" ""
"0000476782" "0" "90" "8" "10467686" "10467686" "subst" "0" "02591" "RP1L1_000239" "g.10467686C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs778117952" "0" "" "" "g.10610176C>A" "" "pathogenic" ""
"0000476783" "0" "50" "8" "10467956" "10467956" "subst" "0" "02591" "RP1L1_000240" "g.10467956C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10610446C>T" "" "VUS" ""
"0000476784" "0" "50" "8" "10468094" "10468094" "subst" "0.00311664" "02591" "RP1L1_000079" "g.10468094G>T" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs143870426" "0" "" "" "g.10610584G>T" "" "VUS" ""
"0000476785" "0" "10" "8" "10468172" "10468172" "subst" "0.733726" "02591" "RP1L1_000080" "g.10468172G>A" "529/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4840502" "0" "" "" "g.10610662G>A" "" "benign" ""
"0000476786" "0" "10" "8" "10468268" "10468268" "subst" "0.000207315" "02591" "RP1L1_000241" "g.10468268A>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs559059729" "0" "" "" "g.10610758A>T" "" "benign" ""
"0000476787" "3" "50" "8" "10468321" "10468321" "subst" "5.74934E-5" "02591" "RP1L1_000242" "g.10468321C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs760076052" "0" "" "" "g.10610811C>T" "" "VUS" ""
"0000476788" "0" "10" "8" "10468353" "10468353" "subst" "0.00213378" "02591" "RP1L1_000081" "g.10468353G>C" "34/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs150752593" "0" "" "" "g.10610843G>C" "" "benign" ""
"0000476789" "0" "50" "8" "10468555" "10468555" "subst" "0.000203105" "02591" "RP1L1_000243" "g.10468555G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200191362" "0" "" "" "g.10611045G>T" "" "VUS" ""
"0000476790" "0" "90" "8" "10468581" "10468584" "del" "0" "02591" "RP1L1_000244" "g.10468581_10468584del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611071_10611074del" "" "pathogenic" ""
"0000476791" "0" "50" "8" "10468582" "10468582" "subst" "4.96114E-5" "02591" "RP1L1_000245" "g.10468582G>A" "3/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs751300307" "0" "" "" "g.10611072G>A" "" "VUS" ""
"0000476792" "0" "50" "8" "10468586" "10468586" "subst" "0" "02591" "RP1L1_000246" "g.10468586G>C" "18/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs756996764" "0" "" "" "g.10611076G>C" "" "VUS" ""
"0000476793" "0" "50" "8" "10468627" "10468627" "subst" "0" "02591" "RP1L1_000247" "g.10468627G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611117G>C" "" "VUS" ""
"0000476794" "0" "50" "8" "10468721" "10468721" "subst" "0" "02591" "RP1L1_000248" "g.10468721T>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611211T>G" "" "VUS" ""
"0000476795" "0" "50" "8" "10468739" "10468739" "subst" "0" "02591" "RP1L1_000249" "g.10468739C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611229C>A" "" "VUS" ""
"0000476796" "0" "10" "8" "10468828" "10468828" "subst" "0.0043609" "02591" "RP1L1_000250" "g.10468828G>T" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs77230188" "0" "" "" "g.10611318G>T" "" "benign" ""
"0000476797" "0" "50" "8" "10468979" "10468979" "subst" "0.000251036" "02591" "RP1L1_000089" "g.10468979G>A" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs770403429" "0" "" "" "g.10611469G>A" "" "VUS" ""
"0000476798" "0" "50" "8" "10468984" "10468984" "subst" "0" "02591" "RP1L1_000251" "g.10468984C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611474C>T" "" "VUS" ""
"0000476799" "0" "50" "8" "10469020" "10469020" "subst" "0" "02591" "RP1L1_000252" "g.10469020G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611510G>T" "" "VUS" ""
"0000476800" "0" "10" "8" "10469030" "10469030" "subst" "0.177597" "02591" "RP1L1_000160" "g.10469030G>A" "429/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62490856" "0" "" "" "g.10611520G>A" "" "benign" ""
"0000476801" "0" "50" "8" "10469041" "10469041" "subst" "5.01329E-5" "02591" "RP1L1_000253" "g.10469041G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199984803" "0" "" "" "g.10611531G>A" "" "VUS" ""
"0000476802" "0" "50" "8" "10469143" "10469143" "subst" "0.000111772" "02591" "RP1L1_000254" "g.10469143C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs750002050" "0" "" "" "g.10611633C>T" "" "VUS" ""
"0000476803" "0" "50" "8" "10469158" "10469158" "subst" "4.10061E-6" "02591" "RP1L1_000255" "g.10469158G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611648G>A" "" "VUS" ""
"0000476804" "0" "10" "8" "10469167" "10469167" "subst" "0.000249275" "02591" "RP1L1_000256" "g.10469167T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs190447684" "0" "" "" "g.10611657T>C" "" "benign" ""
"0000476805" "0" "10" "8" "10469233" "10469233" "subst" "0.416258" "02591" "RP1L1_000095" "g.10469233A>G" "178/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs35602868" "0" "" "" "g.10611723A>G" "" "benign" ""
"0000476806" "0" "50" "8" "10469282" "10469282" "subst" "0" "02591" "RP1L1_000257" "g.10469282T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611772T>C" "" "VUS" ""
"0000476807" "0" "50" "8" "10469369" "10469369" "subst" "0" "02591" "RP1L1_000258" "g.10469369C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611859C>T" "" "VUS" ""
"0000476808" "0" "50" "8" "10469371" "10469371" "subst" "6.5001E-5" "02591" "RP1L1_000259" "g.10469371G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs746913234" "0" "" "" "g.10611861G>A" "" "VUS" ""
"0000476809" "0" "90" "8" "10469582" "10469582" "subst" "1.21881E-5" "02591" "RP1L1_000260" "g.10469582T>A" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs752248086" "0" "" "" "g.10612072T>A" "" "pathogenic" ""
"0000476810" "0" "50" "8" "10469626" "10469626" "subst" "2.03226E-5" "02591" "RP1L1_000261" "g.10469626G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs780579349" "0" "" "" "g.10612116G>A" "" "VUS" ""
"0000476811" "0" "90" "8" "10469636" "10469636" "subst" "2.03221E-5" "02591" "RP1L1_000262" "g.10469636G>A" "11/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236107" "0" "" "" "g.10612126G>A" "" "pathogenic" ""
"0000476812" "0" "50" "8" "10469725" "10469725" "subst" "0" "02591" "RP1L1_000263" "g.10469725G>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10612215G>T" "" "VUS" ""
"0000476813" "0" "50" "8" "10469751" "10469751" "subst" "4.08067E-6" "02591" "RP1L1_000264" "g.10469751C>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs781554433" "0" "" "" "g.10612241C>G" "" "VUS" ""
"0000476814" "0" "50" "8" "10469830" "10469830" "subst" "5.29808E-5" "02591" "RP1L1_000265" "g.10469830G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs368595581" "0" "" "" "g.10612320G>A" "" "VUS" ""
"0000476815" "0" "50" "8" "10469845" "10469845" "subst" "1.22365E-5" "02591" "RP1L1_000266" "g.10469845T>C" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs770348021" "0" "" "" "g.10612335T>C" "" "VUS" ""
"0000476816" "0" "50" "8" "10470021" "10470021" "subst" "2.91366E-5" "02591" "RP1L1_000267" "g.10470021C>G" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs750105114" "0" "" "" "g.10612511C>G" "" "VUS" ""
"0000476817" "0" "10" "8" "10470068" "10470068" "subst" "0.383323" "02591" "RP1L1_000109" "g.10470068C>T" "175/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs74990397" "0" "" "" "g.10612558C>T" "" "benign" ""
"0000476818" "0" "90" "8" "10470107" "10470107" "subst" "0" "02591" "RP1L1_000268" "g.10470107C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10612597C>A" "" "pathogenic" ""
"0000476819" "0" "50" "8" "10470307" "10470307" "subst" "4.14831E-6" "02591" "RP1L1_000269" "g.10470307C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10612797C>A" "" "VUS" ""
"0000476820" "3" "90" "8" "10470320" "10470320" "subst" "0" "02591" "RP1L1_000270" "g.10470320G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10612810G>A" "" "pathogenic" ""
"0000476821" "0" "50" "8" "10470490" "10470490" "subst" "0" "02591" "RP1L1_000271" "g.10470490G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10612980G>A" "" "VUS" ""
"0000476822" "0" "50" "8" "10470496" "10470496" "subst" "9.77732E-5" "02591" "RP1L1_000272" "g.10470496C>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs751450666" "0" "" "" "g.10612986C>A" "" "VUS" ""
"0000476823" "0" "50" "8" "10470613" "10470613" "subst" "0" "02591" "RP1L1_000273" "g.10470613A>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10613103A>G" "" "VUS" ""
"0000476824" "0" "50" "8" "10470614" "10470614" "subst" "4.49504E-5" "02591" "RP1L1_000274" "g.10470614C>T" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs779204018" "0" "" "" "g.10613104C>T" "" "VUS" ""
"0000476825" "0" "50" "8" "10470668" "10470668" "subst" "3.27555E-5" "02591" "RP1L1_000275" "g.10470668G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs777582995" "0" "" "" "g.10613158G>A" "" "VUS" ""
"0000476826" "0" "50" "8" "10473979" "10473979" "subst" "0" "02591" "RP1L1_000276" "g.10473979C>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10616469C>G" "" "VUS" ""
"0000476827" "0" "10" "8" "10474037" "10474037" "subst" "0.00018687" "02591" "RP1L1_000128" "g.10474037C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs117547822" "0" "" "" "g.10616527C>T" "" "benign" ""
"0000476828" "0" "10" "8" "10474042" "10474042" "subst" "0.185588" "02591" "RP1L1_000129" "g.10474042T>G" "591/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4388421" "0" "" "" "g.10616532T>G" "" "benign" ""
"0000476829" "0" "10" "8" "10474085" "10474085" "subst" "0.000552201" "02591" "RP1L1_000277" "g.10474085G>T" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201753844" "0" "" "" "g.10616575G>T" "" "benign" ""
"0000476830" "0" "90" "8" "10480129" "10480129" "subst" "0" "02591" "RP1L1_000278" "g.10480129G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10622619G>A" "" "pathogenic" ""
"0000476831" "0" "10" "8" "10480144" "10480144" "subst" "0.00200366" "02591" "RP1L1_000130" "g.10480144G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202110498" "0" "" "" "g.10622634G>A" "" "benign" ""
"0000476832" "0" "10" "8" "10480165" "10480165" "subst" "0.00911078" "02591" "RP1L1_000279" "g.10480165C>T" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs115126172" "0" "" "" "g.10622655C>T" "" "benign" ""
"0000476833" "0" "50" "8" "10480261" "10480261" "subst" "0" "02591" "RP1L1_000280" "g.10480261G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10622751G>A" "" "VUS" ""
"0000476834" "0" "50" "8" "10480295" "10480295" "dup" "0" "02591" "RP1L1_000281" "g.10480295dup" "165/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201192645" "0" "" "" "g.10622785dup" "" "VUS" ""
"0000476835" "0" "50" "8" "10480300" "10480300" "subst" "0" "02591" "RP1L1_000282" "g.10480300C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10622790C>T" "" "VUS" ""
"0000476836" "0" "90" "8" "10480309" "10480309" "subst" "0" "02591" "RP1L1_000283" "g.10480309G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10622799G>A" "" "pathogenic" ""
"0000476837" "0" "50" "8" "10480381" "10480381" "subst" "8.26679E-6" "02591" "RP1L1_000284" "g.10480381T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10622871T>C" "" "VUS" ""
"0000476838" "0" "50" "8" "10480387" "10480388" "ins" "0.00199136" "02591" "RP1L1_000285" "g.10480387_10480388insA" "48/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs138816053" "0" "" "" "g.10622877_10622878insA" "" "VUS" ""
"0000476839" "0" "10" "8" "10480423" "10480423" "subst" "0.000274298" "02591" "RP1L1_000286" "g.10480423C>G" "88/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs142083988" "0" "" "" "g.10622913C>G" "" "benign" ""
"0000476840" "0" "50" "8" "10480452" "10480452" "subst" "8.1648E-6" "02591" "RP1L1_000287" "g.10480452A>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10622942A>G" "" "VUS" ""
"0000476841" "0" "50" "8" "10480546" "10480546" "subst" "4.10378E-6" "02591" "RP1L1_000288" "g.10480546G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10623036G>C" "" "VUS" ""
"0000476842" "0" "50" "8" "10480618" "10480618" "subst" "0" "02591" "RP1L1_000289" "g.10480618G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10623108G>A" "" "VUS" ""
"0000476843" "0" "10" "8" "10480635" "10480635" "subst" "0.000181378" "02591" "RP1L1_000290" "g.10480635G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs185749010" "0" "" "" "g.10623125G>A" "" "benign" ""
"0000476844" "0" "50" "8" "10480680" "10480680" "subst" "0.000766342" "02591" "RP1L1_000291" "g.10480680G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199642627" "0" "" "" "g.10623170G>A" "" "VUS" ""
"0000476845" "0" "90" "8" "10480687" "10480687" "subst" "0" "02591" "RP1L1_000292" "g.10480687G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10623177G>A" "" "pathogenic" ""
"0000477536" "3" "10" "8" "10464755" "10464755" "subst" "0.479071" "02591" "RP1L1_000020" "g.10464755C>T" "352/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs55642448" "0" "" "" "g.10607245C>T" "" "benign" ""
"0000477537" "3" "10" "8" "10465097" "10465097" "subst" "0.370145" "02591" "RP1L1_000026" "g.10465097C>T" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4354268" "0" "" "" "g.10607587C>T" "" "benign" ""
"0000477538" "3" "50" "8" "10465337" "10465337" "subst" "0" "02591" "RP1L1_000206" "g.10465337C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10607827C>T" "" "VUS" ""
"0000477539" "3" "10" "8" "10465344" "10465344" "subst" "0.131022" "02591" "RP1L1_000154" "g.10465344C>A" "183/1201 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11778341" "0" "" "" "g.10607834C>A" "" "benign" ""
"0000477540" "3" "10" "8" "10465399" "10465399" "subst" "0.130628" "02591" "RP1L1_000155" "g.10465399T>A" "185/1189 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11782670" "0" "" "" "g.10607889T>A" "" "benign" ""
"0000477541" "3" "10" "8" "10465748" "10465748" "subst" "0.613747" "02591" "RP1L1_000033" "g.10465748T>C" "1011/1193 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11783478" "0" "" "" "g.10608238T>C" "" "benign" ""
"0000477542" "3" "10" "8" "10465942" "10465942" "subst" "0.258732" "02591" "RP1L1_000156" "g.10465942T>A" "203/1191 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs28446662" "0" "" "" "g.10608432T>A" "" "benign" ""
"0000477543" "3" "10" "8" "10465990" "10465990" "subst" "6.80321E-5" "02591" "RP1L1_000218" "g.10465990T>C" "14/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200622636" "0" "" "" "g.10608480T>C" "" "benign" ""
"0000477544" "3" "10" "8" "10466482" "10466482" "subst" "0.374479" "02591" "RP1L1_000041" "g.10466482G>A" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs13267180" "0" "" "" "g.10608972G>A" "" "benign" ""
"0000477545" "3" "10" "8" "10467124" "10467124" "subst" "0.298014" "02591" "RP1L1_000049" "g.10467124G>C" "188/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4841399" "0" "" "" "g.10609614G>C" "" "benign" ""
"0000477546" "3" "10" "8" "10467160" "10467160" "subst" "0.179494" "02591" "RP1L1_000157" "g.10467160G>A" "32/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62490855" "0" "" "" "g.10609650G>A" "" "benign" ""
"0000477547" "3" "50" "8" "10467624" "10467625" "ins" "0" "02591" "RP1L1_000236" "g.10467624_10467625insCCT" "2/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10610114_10610115insCCT" "" "VUS" ""
"0000477548" "3" "10" "8" "10467631" "10467632" "ins" "0" "02591" "RP1L1_000237" "g.10467631_10467632insCTT" "139/1198 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs146656804" "0" "" "" "g.10610121_10610122insCTT" "" "benign" ""
"0000477549" "3" "50" "8" "10467637" "10467637" "subst" "0" "02591" "RP1L1_000069" "g.10467637T>C" "99/1191 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4240659" "0" "" "" "g.10610127T>C" "" "VUS" ""
"0000477550" "3" "10" "8" "10467652" "10467652" "subst" "0" "02591" "RP1L1_000071" "g.10467652G>C" "245/1197 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4840501" "0" "" "" "g.10610142G>C" "" "benign" ""
"0000477551" "3" "10" "8" "10468172" "10468172" "subst" "0.733726" "02591" "RP1L1_000080" "g.10468172G>A" "499/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4840502" "0" "" "" "g.10610662G>A" "" "benign" ""
"0000477552" "3" "10" "8" "10468353" "10468353" "subst" "0.00213378" "02591" "RP1L1_000081" "g.10468353G>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs150752593" "0" "" "" "g.10610843G>C" "" "benign" ""
"0000477553" "3" "90" "8" "10468581" "10468584" "del" "0" "02591" "RP1L1_000244" "g.10468581_10468584del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.10611071_10611074del" "" "pathogenic" ""
"0000477554" "3" "10" "8" "10469030" "10469030" "subst" "0.177597" "02591" "RP1L1_000160" "g.10469030G>A" "49/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62490856" "0" "" "" "g.10611520G>A" "" "benign" ""
"0000477555" "3" "10" "8" "10469233" "10469233" "subst" "0.416258" "02591" "RP1L1_000095" "g.10469233A>G" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs35602868" "0" "" "" "g.10611723A>G" "" "benign" ""
"0000477556" "3" "90" "8" "10469636" "10469636" "subst" "2.03221E-5" "02591" "RP1L1_000262" "g.10469636G>A" "12/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236107" "0" "" "" "g.10612126G>A" "" "pathogenic" ""
"0000477557" "3" "10" "8" "10470068" "10470068" "subst" "0.383323" "02591" "RP1L1_000109" "g.10470068C>T" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs74990397" "0" "" "" "g.10612558C>T" "" "benign" ""
"0000477558" "3" "10" "8" "10474042" "10474042" "subst" "0.185588" "02591" "RP1L1_000129" "g.10474042T>G" "347/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs4388421" "0" "" "" "g.10616532T>G" "" "benign" ""
"0000477559" "3" "50" "8" "10480295" "10480295" "dup" "0" "02591" "RP1L1_000281" "g.10480295dup" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201192645" "0" "" "" "g.10622785dup" "" "VUS" ""
"0000477560" "3" "50" "8" "10480387" "10480388" "ins" "0.00199136" "02591" "RP1L1_000285" "g.10480387_10480388insA" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs138816053" "0" "" "" "g.10622877_10622878insA" "" "VUS" ""
"0000477561" "3" "10" "8" "10480423" "10480423" "subst" "0.000274298" "02591" "RP1L1_000286" "g.10480423C>G" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs142083988" "0" "" "" "g.10622913C>G" "" "benign" ""
"0000499708" "3" "50" "8" "10470496" "10470496" "subst" "9.77732E-5" "02591" "RP1L1_000272" "g.10470496C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs751450666" "0" "" "" "g.10612986C>A" "" "VUS" ""
"0000533356" "0" "30" "8" "10464465" "10464465" "subst" "0.000121837" "01943" "RP1L1_000293" "g.10464465G>T" "" "" "" "RP1L1(NM_178857.5):c.7143C>A (p.L2381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10606955G>T" "" "likely benign" ""
"0000533357" "0" "10" "8" "10464561" "10464561" "subst" "0.0022579" "02327" "RP1L1_000018" "g.10464561A>G" "" "" "" "RP1L1(NM_178857.5):c.7047T>C (p.T2349=), RP1L1(NM_178857.6):c.7047T>C (p.T2349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607051A>G" "" "benign" ""
"0000533358" "0" "30" "8" "10464602" "10464602" "subst" "8.12196E-6" "01943" "RP1L1_000294" "g.10464602C>T" "" "" "" "RP1L1(NM_178857.5):c.7006G>A (p.A2336T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607092C>T" "" "likely benign" ""
"0000533359" "0" "10" "8" "10464616" "10464616" "subst" "0.00154723" "02330" "RP1L1_000295" "g.10464616G>A" "" "" "" "RP1L1(NM_178857.5):c.6992C>T (p.T2331M), RP1L1(NM_178857.6):c.6992C>T (p.T2331M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607106G>A" "" "benign" ""
"0000533360" "0" "30" "8" "10464616" "10464616" "subst" "0.00154723" "01943" "RP1L1_000295" "g.10464616G>A" "" "" "" "RP1L1(NM_178857.5):c.6992C>T (p.T2331M), RP1L1(NM_178857.6):c.6992C>T (p.T2331M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607106G>A" "" "likely benign" ""
"0000533361" "0" "50" "8" "10464706" "10464706" "subst" "0.000259934" "01943" "RP1L1_000296" "g.10464706G>C" "" "" "" "RP1L1(NM_178857.5):c.6902C>G (p.S2301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607196G>C" "" "VUS" ""
"0000533362" "0" "30" "8" "10464828" "10464828" "subst" "1.62554E-5" "01943" "RP1L1_000297" "g.10464828G>T" "" "" "" "RP1L1(NM_178857.5):c.6780C>A (p.G2260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607318G>T" "" "likely benign" ""
"0000533363" "0" "30" "8" "10464926" "10464926" "subst" "2.84433E-5" "01943" "RP1L1_000298" "g.10464926C>T" "" "" "" "RP1L1(NM_178857.5):c.6682G>A (p.V2228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607416C>T" "" "likely benign" ""
"0000533364" "0" "10" "8" "10465012" "10465012" "subst" "0.0603524" "02327" "RP1L1_000201" "g.10465012G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607502G>A" "" "benign" ""
"0000533365" "0" "30" "8" "10465042" "10465042" "subst" "4.06157E-6" "01943" "RP1L1_000299" "g.10465042G>C" "" "" "" "RP1L1(NM_178857.5):c.6566C>G (p.A2189G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607532G>C" "" "likely benign" ""
"0000533366" "0" "10" "8" "10465097" "10465097" "subst" "0.370145" "02327" "RP1L1_000026" "g.10465097C>T" "" "" "" "RP1L1(NM_178857.6):c.6511G>A (p.E2171K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607587C>T" "" "benign" ""
"0000533367" "0" "30" "8" "10465234" "10465234" "subst" "0" "01804" "RP1L1_000300" "g.10465234G>T" "" "" "" "RP1L1(NM_178857.5):c.6374C>A (p.(Ala2125Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607724G>T" "" "likely benign" ""
"0000533368" "0" "30" "8" "10465371" "10465371" "subst" "0" "01804" "RP1L1_000301" "g.10465371G>T" "" "" "" "RP1L1(NM_178857.5):c.6237C>A (p.(His2079Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607861G>T" "" "likely benign" ""
"0000533372" "0" "30" "8" "10465990" "10466058" "del" "0" "01943" "RP1L1_000303" "g.10465990_10466058del" "" "" "" "RP1L1(NM_178857.5):c.5574_5642del (p.D1859_G1881del), RP1L1(NM_178857.6):c.5574_5642del (p.D1859_G1881del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10608480_10608548del" "" "likely benign" ""
"0000533373" "0" "30" "8" "10466060" "10466060" "subst" "0" "01943" "RP1L1_000304" "g.10466060C>T" "" "" "" "RP1L1(NM_178857.5):c.5548G>A (p.G1850S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10608550C>T" "" "likely benign" ""
"0000533374" "0" "30" "8" "10466187" "10466187" "subst" "0.00394449" "01943" "RP1L1_000038" "g.10466187G>C" "" "" "" "RP1L1(NM_178857.5):c.5421C>G (p.G1807=), RP1L1(NM_178857.6):c.5421C>G (p.G1807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10608677G>C" "" "likely benign" ""
"0000533375" "0" "30" "8" "10466324" "10466324" "subst" "0.000389895" "01943" "RP1L1_000305" "g.10466324C>T" "" "" "" "RP1L1(NM_178857.5):c.5284G>A (p.E1762K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10608814C>T" "" "likely benign" ""
"0000533376" "0" "70" "8" "10466402" "10466402" "subst" "1.21868E-5" "02327" "RP1L1_000306" "g.10466402G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10608892G>A" "" "likely pathogenic" ""
"0000533377" "0" "90" "8" "10466537" "10466537" "subst" "4.46944E-5" "01943" "RP1L1_000307" "g.10466537G>A" "" "" "" "RP1L1(NM_178857.5):c.5071C>T (p.Q1691*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609027G>A" "" "pathogenic" ""
"0000533378" "0" "30" "8" "10466703" "10466703" "subst" "0.000309444" "02327" "RP1L1_000308" "g.10466703G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609193G>A" "" "likely benign" ""
"0000533379" "0" "30" "8" "10466739" "10466739" "subst" "1.2507E-5" "01943" "RP1L1_000309" "g.10466739G>T" "" "" "" "RP1L1(NM_178857.5):c.4869C>A (p.T1623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609229G>T" "" "likely benign" ""
"0000533380" "0" "30" "8" "10466819" "10466819" "subst" "0.000121443" "01943" "RP1L1_000310" "g.10466819C>T" "" "" "" "RP1L1(NM_178857.5):c.4789G>A (p.G1597R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609309C>T" "" "likely benign" ""
"0000533381" "0" "10" "8" "10466820" "10466820" "subst" "0.000284569" "02330" "RP1L1_000311" "g.10466820G>A" "" "" "" "RP1L1(NM_178857.6):c.4788C>T (p.T1596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609310G>A" "" "benign" ""
"0000533382" "0" "30" "8" "10466883" "10466883" "subst" "0.000245235" "01943" "RP1L1_000312" "g.10466883C>T" "" "" "" "RP1L1(NM_178857.5):c.4725G>A (p.E1575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609373C>T" "" "likely benign" ""
"0000533383" "0" "50" "8" "10466908" "10466908" "subst" "0" "01943" "RP1L1_000313" "g.10466908C>G" "" "" "" "RP1L1(NM_178857.5):c.4700G>C (p.R1567P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609398C>G" "" "VUS" ""
"0000533384" "0" "30" "8" "10467006" "10467006" "subst" "8.25928E-6" "01943" "RP1L1_000314" "g.10467006A>C" "" "" "" "RP1L1(NM_178857.5):c.4602T>G (p.L1534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609496A>C" "" "likely benign" ""
"0000533385" "0" "10" "8" "10467078" "10467078" "subst" "1.68153E-5" "02330" "RP1L1_000315" "g.10467078C>T" "" "" "" "RP1L1(NM_178857.6):c.4530G>A (p.A1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609568C>T" "" "benign" ""
"0000533386" "0" "30" "8" "10467495" "10467495" "subst" "0.000186819" "02330" "RP1L1_000316" "g.10467495C>A" "" "" "" "RP1L1(NM_178857.6):c.4113G>T (p.G1371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609985C>A" "" "likely benign" ""
"0000533388" "0" "30" "8" "10467596" "10467596" "subst" "8.15521E-6" "02330" "RP1L1_000318" "g.10467596A>T" "" "" "" "RP1L1(NM_178857.6):c.4012T>A (p.L1338I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610086A>T" "" "likely benign" ""
"0000533389" "0" "10" "8" "10467604" "10467605" "ins" "0" "02330" "RP1L1_000319" "g.10467604_10467605insTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC" "" "" "" "RP1L1(NM_178857.5):c.4018_4019ins48 (p.E1339_E1340ins16), RP1L1(NM_178857.6):c.4018_4019ins48 (p.E1339_E1340ins16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610094_10610095insTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC" "" "benign" ""
"0000533390" "0" "30" "8" "10467604" "10467605" "ins" "0" "01943" "RP1L1_000319" "g.10467604_10467605insTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC" "" "" "" "RP1L1(NM_178857.5):c.4018_4019ins48 (p.E1339_E1340ins16), RP1L1(NM_178857.6):c.4018_4019ins48 (p.E1339_E1340ins16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610094_10610095insTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC" "" "likely benign" ""
"0000533391" "0" "10" "8" "10467605" "10467605" "subst" "0.0244133" "02327" "RP1L1_000174" "g.10467605C>T" "" "" "" "RP1L1(NM_178857.5):c.4003G>A (p.G1335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610095C>T" "" "benign" ""
"0000533392" "0" "10" "8" "10467614" "10467614" "subst" "0" "02330" "RP1L1_000320" "g.10467614G>T" "" "" "" "RP1L1(NM_178857.6):c.3994C>A (p.Q1332K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610104G>T" "" "benign" ""
"0000533393" "0" "10" "8" "10467615" "10467615" "subst" "0" "02330" "RP1L1_000321" "g.10467615C>T" "" "" "" "RP1L1(NM_178857.6):c.3993G>A (p.L1331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610105C>T" "" "benign" ""
"0000533394" "0" "10" "8" "10467619" "10467619" "subst" "0" "02330" "RP1L1_000322" "g.10467619C>A" "" "" "" "RP1L1(NM_178857.6):c.3989G>T (p.G1330V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610109C>A" "" "benign" ""
"0000533395" "0" "10" "8" "10467624" "10467625" "ins" "0.0119464" "02330" "RP1L1_000323" "g.10467624_10467625insATTACTTTAGTCCCC" "" "" "" "RP1L1(NM_178857.5):c.3983_3984insGGGGACTAAAGTAAT (p.E1328_E1329insGTKVI), RP1L1(NM_178857.6):c.3983_3984insGGGGACTAAAGTAAT (p.E1328_E1329insGTKVI)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610114_10610115insATTACTTTAGTCCCC" "" "benign" ""
"0000533396" "0" "30" "8" "10467624" "10467625" "ins" "0.0119464" "01943" "RP1L1_000323" "g.10467624_10467625insATTACTTTAGTCCCC" "" "" "" "RP1L1(NM_178857.5):c.3983_3984insGGGGACTAAAGTAAT (p.E1328_E1329insGTKVI), RP1L1(NM_178857.6):c.3983_3984insGGGGACTAAAGTAAT (p.E1328_E1329insGTKVI)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610114_10610115insATTACTTTAGTCCCC" "" "likely benign" ""
"0000533398" "0" "10" "8" "10467631" "10467632" "ins" "0" "02330" "RP1L1_000237" "g.10467631_10467632insCTT" "" "" "" "RP1L1(NM_178857.5):c.3978_3979insGAA (p.K1326_T1327insE), RP1L1(NM_178857.6):c.3978_3979insGAA (p.K1326_T1327insE)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610121_10610122insCTT" "" "benign" ""
"0000533399" "0" "30" "8" "10467631" "10467632" "ins" "0" "01943" "RP1L1_000237" "g.10467631_10467632insCTT" "" "" "" "RP1L1(NM_178857.5):c.3978_3979insGAA (p.K1326_T1327insE), RP1L1(NM_178857.6):c.3978_3979insGAA (p.K1326_T1327insE)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610121_10610122insCTT" "" "likely benign" ""
"0000533401" "0" "30" "8" "10467635" "10467636" "ins" "0" "01943" "RP1L1_000326" "g.10467635_10467636insCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGT" "" "" "" "RP1L1(NM_178857.5):c.4018_4019ins96 (p.E1339_E1340ins32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610125_10610126insCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGT" "" "likely benign" ""
"0000533402" "0" "10" "8" "10467637" "10467637" "subst" "0" "02330" "RP1L1_000069" "g.10467637T>C" "" "" "" "RP1L1(NM_178857.5):c.3971A>G (p.E1324G), RP1L1(NM_178857.6):c.3971A>G (p.E1324G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610127T>C" "" "benign" ""
"0000533403" "0" "50" "8" "10467651" "10467652" "ins" "0.000470496" "01943" "RP1L1_000327" "g.10467651_10467652insCCCTCTTCTT" "" "" "" "RP1L1(NM_178857.5):c.3956_3957insAAGAAGAGGG (p.V1320Rfs*10), RP1L1(NM_178857.6):c.3956_3957insAAGAAGAGGG (p.V1320Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610141_10610142insCCCTCTTCTT" "" "VUS" ""
"0000533404" "0" "30" "8" "10467651" "10467652" "ins" "0" "01943" "RP1L1_000328" "g.10467651_10467652insCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACC" "" "" "" "RP1L1(NM_178857.5):c.3970_3971ins51 (p.E1323_E1324ins17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610141_10610142insCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACC" "" "likely benign" ""
"0000533405" "0" "30" "8" "10467651" "10467652" "ins" "0" "02330" "RP1L1_000329" "g.10467651_10467652insCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACC" "" "" "" "RP1L1(NM_178857.5):c.3970_3971ins48 (p.E1323_E1324ins16), RP1L1(NM_178857.6):c.3970_3971ins48 (p.E1323_E1324ins16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610141_10610142insCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACC" "" "likely benign" ""
"0000533406" "0" "50" "8" "10467651" "10467652" "ins" "0" "01943" "RP1L1_000329" "g.10467651_10467652insCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACC" "" "" "" "RP1L1(NM_178857.5):c.3970_3971ins48 (p.E1323_E1324ins16), RP1L1(NM_178857.6):c.3970_3971ins48 (p.E1323_E1324ins16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610141_10610142insCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACC" "" "VUS" ""
"0000533407" "0" "30" "8" "10467651" "10467652" "ins" "0" "01943" "RP1L1_000330" "g.10467651_10467652insCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACC" "" "" "" "RP1L1(NM_178857.5):c.3970_3971ins99 (p.E1323_E1324ins33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610141_10610142insCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACC" "" "likely benign" ""
"0000533409" "0" "30" "8" "10467682" "10467682" "subst" "0" "02330" "RP1L1_000332" "g.10467682C>T" "" "" "" "RP1L1(NM_178857.6):c.3926G>A (p.G1309E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610172C>T" "" "likely benign" ""
"0000533410" "0" "30" "8" "10467694" "10467694" "subst" "4.062E-6" "01943" "RP1L1_000333" "g.10467694T>G" "" "" "" "RP1L1(NM_178857.5):c.3914A>C (p.E1305A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610184T>G" "" "likely benign" ""
"0000533411" "0" "30" "8" "10467754" "10467754" "subst" "0.000150334" "01943" "RP1L1_000334" "g.10467754G>A" "" "" "" "RP1L1(NM_178857.5):c.3854C>T (p.A1285V), RP1L1(NM_178857.6):c.3854C>T (p.A1285V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610244G>A" "" "likely benign" ""
"0000533412" "0" "50" "8" "10467835" "10467835" "subst" "0.000300561" "01943" "RP1L1_000003" "g.10467835A>G" "" "" "" "RP1L1(NM_178857.5):c.3773T>C (p.F1258S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610325A>G" "" "VUS" ""
"0000533413" "0" "50" "8" "10468039" "10468039" "subst" "0.000142206" "02330" "RP1L1_000335" "g.10468039G>A" "" "" "" "RP1L1(NM_178857.6):c.3569C>T (p.T1190M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610529G>A" "" "VUS" ""
"0000533414" "0" "10" "8" "10468094" "10468094" "subst" "0.00311664" "01943" "RP1L1_000079" "g.10468094G>T" "" "" "" "RP1L1(NM_178857.5):c.3514C>A (p.L1172I), RP1L1(NM_178857.6):c.3514C>A (p.L1172I, p.(Leu1172Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610584G>T" "" "benign" ""
"0000533415" "0" "30" "8" "10468099" "10468099" "subst" "4.46991E-5" "01943" "RP1L1_000336" "g.10468099G>A" "" "" "" "RP1L1(NM_178857.5):c.3509C>T (p.S1170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610589G>A" "" "likely benign" ""
"0000533416" "0" "30" "8" "10468143" "10468143" "subst" "4.87504E-5" "01943" "RP1L1_000337" "g.10468143C>T" "" "" "" "RP1L1(NM_178857.5):c.3465G>A (p.K1155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610633C>T" "" "likely benign" ""
"0000533417" "0" "30" "8" "10468179" "10468179" "subst" "8.12354E-6" "02330" "RP1L1_000338" "g.10468179G>C" "" "" "" "RP1L1(NM_178857.6):c.3429C>G (p.D1143E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610669G>C" "" "likely benign" ""
"0000533418" "0" "30" "8" "10468305" "10468305" "subst" "0.000367416" "02330" "RP1L1_000339" "g.10468305G>C" "" "" "" "RP1L1(NM_178857.6):c.3303C>G (p.P1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610795G>C" "" "likely benign" ""
"0000533419" "0" "50" "8" "10468321" "10468321" "subst" "5.74934E-5" "02330" "RP1L1_000242" "g.10468321C>T" "" "" "" "RP1L1(NM_178857.6):c.3287G>A (p.R1096Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610811C>T" "" "VUS" ""
"0000533420" "0" "50" "8" "10468345" "10468345" "subst" "0.00205589" "01943" "RP1L1_000340" "g.10468345G>A" "" "" "" "RP1L1(NM_178857.5):c.3263C>T (p.A1088V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610835G>A" "" "VUS" ""
"0000533421" "0" "10" "8" "10468353" "10468353" "subst" "0.00213378" "02327" "RP1L1_000081" "g.10468353G>C" "" "" "" "RP1L1(NM_178857.5):c.3255C>G (p.I1085M), RP1L1(NM_178857.6):c.3255C>G (p.I1085M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610843G>C" "" "benign" ""
"0000533422" "0" "30" "8" "10468408" "10468408" "subst" "0.000372763" "01943" "RP1L1_000014" "g.10468408C>G" "" "" "" "RP1L1(NM_178857.5):c.3200G>C (p.G1067A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610898C>G" "" "likely benign" ""
"0000533423" "0" "30" "8" "10468483" "10468483" "subst" "0.000405844" "01943" "RP1L1_000341" "g.10468483A>T" "" "" "" "RP1L1(NM_178857.5):c.3125T>A (p.V1042D), RP1L1(NM_178857.6):c.3125T>A (p.V1042D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610973A>T" "" "likely benign" ""
"0000533424" "0" "30" "8" "10468553" "10468553" "subst" "0" "01943" "RP1L1_000342" "g.10468553C>G" "" "" "" "RP1L1(NM_178857.5):c.3055G>C (p.G1019R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611043C>G" "" "likely benign" ""
"0000533425" "0" "10" "8" "10468647" "10468647" "subst" "0" "02330" "RP1L1_000343" "g.10468647C>G" "" "" "" "RP1L1(NM_178857.6):c.2961G>C (p.L987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611137C>G" "" "benign" ""
"0000533426" "0" "30" "8" "10468677" "10468677" "subst" "3.2963E-5" "01943" "RP1L1_000344" "g.10468677G>A" "" "" "" "RP1L1(NM_178857.5):c.2931C>T (p.D977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611167G>A" "" "likely benign" ""
"0000533427" "0" "10" "8" "10468685" "10468685" "subst" "0.000469109" "02330" "RP1L1_000345" "g.10468685A>T" "" "" "" "RP1L1(NM_178857.6):c.2923T>A (p.L975M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611175A>T" "" "benign" ""
"0000533428" "0" "10" "8" "10468709" "10468709" "subst" "0.00135109" "02330" "RP1L1_000346" "g.10468709C>T" "" "" "" "RP1L1(NM_178857.5):c.2899G>A (p.E967K), RP1L1(NM_178857.6):c.2899G>A (p.E967K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611199C>T" "" "benign" ""
"0000533429" "0" "30" "8" "10468709" "10468709" "subst" "0.00135109" "01943" "RP1L1_000346" "g.10468709C>T" "" "" "" "RP1L1(NM_178857.5):c.2899G>A (p.E967K), RP1L1(NM_178857.6):c.2899G>A (p.E967K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611199C>T" "" "likely benign" ""
"0000533430" "0" "50" "8" "10468735" "10468735" "subst" "8.19497E-6" "02330" "RP1L1_000347" "g.10468735C>A" "" "" "" "RP1L1(NM_178857.6):c.2873G>T (p.R958L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611225C>A" "" "VUS" ""
"0000533431" "0" "10" "8" "10468758" "10468758" "subst" "0.000245252" "02330" "RP1L1_000348" "g.10468758G>A" "" "" "" "RP1L1(NM_178857.6):c.2850C>T (p.R950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611248G>A" "" "benign" ""
"0000533432" "0" "30" "8" "10468794" "10468794" "subst" "7.3488E-5" "02330" "RP1L1_000349" "g.10468794C>A" "" "" "" "RP1L1(NM_178857.5):c.2814G>T (p.E938D), RP1L1(NM_178857.6):c.2814G>T (p.E938D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611284C>A" "" "likely benign" ""
"0000533433" "0" "50" "8" "10468794" "10468794" "subst" "7.3488E-5" "01943" "RP1L1_000349" "g.10468794C>A" "" "" "" "RP1L1(NM_178857.5):c.2814G>T (p.E938D), RP1L1(NM_178857.6):c.2814G>T (p.E938D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611284C>A" "" "VUS" ""
"0000533434" "0" "30" "8" "10468801" "10468801" "subst" "3.67452E-5" "02330" "RP1L1_000084" "g.10468801C>T" "" "" "" "RP1L1(NM_178857.5):c.2807G>A (p.G936E), RP1L1(NM_178857.6):c.2807G>A (p.G936E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611291C>T" "" "likely benign" ""
"0000533435" "0" "30" "8" "10468802" "10468802" "subst" "4.9002E-5" "01943" "RP1L1_000350" "g.10468802C>A" "" "" "" "RP1L1(NM_178857.5):c.2806G>T (p.G936W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611292C>A" "" "likely benign" ""
"0000533436" "0" "30" "8" "10468817" "10468817" "subst" "0.000281791" "01943" "RP1L1_000351" "g.10468817C>G" "" "" "" "RP1L1(NM_178857.5):c.2791G>C (p.G931R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611307C>G" "" "likely benign" ""
"0000533437" "0" "10" "8" "10468944" "10468944" "subst" "0" "02330" "RP1L1_000352" "g.10468944C>A" "" "" "" "RP1L1(NM_178857.6):c.2664G>T (p.P888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611434C>A" "" "benign" ""
"0000533438" "0" "30" "8" "10468989" "10468989" "subst" "0" "01943" "RP1L1_000353" "g.10468989G>A" "" "" "" "RP1L1(NM_178857.5):c.2619C>T (p.T873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611479G>A" "" "likely benign" ""
"0000533439" "0" "30" "8" "10469109" "10469109" "subst" "0.000920648" "01943" "RP1L1_000354" "g.10469109C>T" "" "" "" "RP1L1(NM_178857.5):c.2499G>A (p.P833=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611599C>T" "" "likely benign" ""
"0000533440" "0" "50" "8" "10469152" "10469152" "subst" "7.48086E-5" "02327" "RP1L1_000355" "g.10469152C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611642C>G" "" "VUS" ""
"0000533441" "0" "10" "8" "10469210" "10469210" "subst" "0.00111452" "02330" "RP1L1_000356" "g.10469210G>T" "" "" "" "RP1L1(NM_178857.6):c.2398C>A (p.P800T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611700G>T" "" "benign" ""
"0000533442" "0" "30" "8" "10469243" "10469243" "subst" "0.000557137" "01943" "RP1L1_000357" "g.10469243C>T" "" "" "" "RP1L1(NM_178857.5):c.2365G>A (p.A789T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611733C>T" "" "likely benign" ""
"0000533443" "0" "30" "8" "10469454" "10469454" "subst" "0.000475486" "01943" "RP1L1_000358" "g.10469454G>T" "" "" "" "RP1L1(NM_178857.5):c.2154C>A (p.N718K, p.(Asn718Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611944G>T" "" "likely benign" ""
"0000533444" "0" "50" "8" "10469462" "10469462" "subst" "2.43833E-5" "02327" "RP1L1_000098" "g.10469462A>G" "" "" "" "RP1L1(NM_178857.6):c.2146T>C (p.S716P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611952A>G" "" "VUS" ""
"0000533445" "0" "30" "8" "10469501" "10469501" "subst" "3.25127E-5" "02330" "RP1L1_000359" "g.10469501G>C" "" "" "" "RP1L1(NM_178857.6):c.2107C>G (p.R703G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611991G>C" "" "likely benign" ""
"0000533446" "0" "10" "8" "10469746" "10469746" "subst" "1.63321E-5" "02330" "RP1L1_000360" "g.10469746G>C" "" "" "" "RP1L1(NM_178857.5):c.1862C>G (p.S621W), RP1L1(NM_178857.6):c.1862C>G (p.S621W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612236G>C" "" "benign" ""
"0000533447" "0" "50" "8" "10469746" "10469746" "subst" "1.63321E-5" "01943" "RP1L1_000360" "g.10469746G>C" "" "" "" "RP1L1(NM_178857.5):c.1862C>G (p.S621W), RP1L1(NM_178857.6):c.1862C>G (p.S621W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612236G>C" "" "VUS" ""
"0000533448" "0" "10" "8" "10469802" "10469802" "subst" "2.03842E-5" "02330" "RP1L1_000361" "g.10469802C>G" "" "" "" "RP1L1(NM_178857.5):c.1806G>C (p.T602=), RP1L1(NM_178857.6):c.1806G>C (p.T602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612292C>G" "" "benign" ""
"0000533449" "0" "30" "8" "10469813" "10469813" "subst" "0.000505425" "01943" "RP1L1_000362" "g.10469813C>T" "" "" "" "RP1L1(NM_178857.5):c.1795G>A (p.E599K), RP1L1(NM_178857.6):c.1795G>A (p.E599K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612303C>T" "" "likely benign" ""
"0000533450" "0" "30" "8" "10469937" "10469937" "subst" "0" "02330" "RP1L1_000363" "g.10469937G>A" "" "" "" "RP1L1(NM_178857.6):c.1671C>T (p.G557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612427G>A" "" "likely benign" ""
"0000533451" "0" "50" "8" "10470054" "10470054" "subst" "1.6824E-5" "01943" "RP1L1_000364" "g.10470054G>A" "" "" "" "RP1L1(NM_178857.5):c.1554C>T (p.G518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612544G>A" "" "VUS" ""
"0000533452" "0" "10" "8" "10470099" "10470099" "subst" "9.86033E-5" "02330" "RP1L1_000110" "g.10470099G>A" "" "" "" "RP1L1(NM_178857.5):c.1509C>T (p.P503=), RP1L1(NM_178857.6):c.1509C>T (p.P503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612589G>A" "" "benign" ""
"0000533453" "0" "30" "8" "10470174" "10470174" "subst" "0.00061894" "01943" "RP1L1_000365" "g.10470174G>A" "" "" "" "RP1L1(NM_178857.5):c.1434C>T (p.D478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612664G>A" "" "likely benign" ""
"0000533454" "0" "10" "8" "10470222" "10470222" "subst" "0.00193387" "01943" "RP1L1_000366" "g.10470222G>A" "" "" "" "RP1L1(NM_178857.5):c.1386C>T (p.P462=), RP1L1(NM_178857.6):c.1386C>T (p.P462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612712G>A" "" "benign" ""
"0000533455" "0" "10" "8" "10470291" "10470291" "subst" "1.24954E-5" "02330" "RP1L1_000367" "g.10470291G>T" "" "" "" "RP1L1(NM_178857.5):c.1317C>A (p.G439=), RP1L1(NM_178857.6):c.1317C>A (p.G439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612781G>T" "" "benign" ""
"0000533456" "0" "30" "8" "10470318" "10470318" "subst" "0.000277022" "02330" "RP1L1_000368" "g.10470318C>A" "" "" "" "RP1L1(NM_178857.5):c.1290G>T (p.Q430H), RP1L1(NM_178857.6):c.1290G>T (p.Q430H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612808C>A" "" "likely benign" ""
"0000533457" "0" "50" "8" "10470318" "10470318" "subst" "0.000277022" "01943" "RP1L1_000368" "g.10470318C>A" "" "" "" "RP1L1(NM_178857.5):c.1290G>T (p.Q430H), RP1L1(NM_178857.6):c.1290G>T (p.Q430H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612808C>A" "" "VUS" ""
"0000533459" "0" "50" "8" "10470439" "10470439" "subst" "2.03865E-5" "01943" "RP1L1_000370" "g.10470439C>T" "" "" "" "RP1L1(NM_178857.5):c.1169G>A (p.G390E), RP1L1(NM_178857.6):c.1169G>A (p.G390E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612929C>T" "" "VUS" ""
"0000533460" "0" "50" "8" "10470539" "10470539" "subst" "4.07594E-6" "02330" "RP1L1_000371" "g.10470539G>T" "" "" "" "RP1L1(NM_178857.6):c.1069C>A (p.P357T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10613029G>T" "" "VUS" ""
"0000533461" "0" "30" "8" "10470615" "10470615" "subst" "0" "01943" "RP1L1_000372" "g.10470615C>A" "" "" "" "RP1L1(NM_178857.5):c.993G>T (p.L331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10613105C>A" "" "likely benign" ""
"0000533462" "0" "10" "8" "10470757" "10470757" "subst" "0.00117972" "01943" "RP1L1_000373" "g.10470757G>A" "" "" "" "RP1L1(NM_178857.5):c.851C>T (p.P284L), RP1L1(NM_178857.6):c.851C>T (p.P284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10613247G>A" "" "benign" ""
"0000533463" "0" "50" "8" "10470791" "10470791" "subst" "8.41602E-6" "01943" "RP1L1_000374" "g.10470791G>A" "" "" "" "RP1L1(NM_178857.5):c.817C>T (p.R273W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10613281G>A" "" "VUS" ""
"0000533464" "0" "30" "8" "10470834" "10470834" "subst" "0" "01943" "RP1L1_000375" "g.10470834C>T" "" "" "" "RP1L1(NM_178857.5):c.774G>A (p.K258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10613324C>T" "" "likely benign" ""
"0000533465" "0" "30" "8" "10474081" "10474081" "subst" "0" "01943" "RP1L1_000376" "g.10474081G>A" "" "" "" "RP1L1(NM_178857.5):c.626C>T (p.A209V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10616571G>A" "" "likely benign" ""
"0000533466" "0" "30" "8" "10474095" "10474095" "subst" "8.63253E-5" "02330" "RP1L1_000377" "g.10474095C>T" "" "" "" "RP1L1(NM_178857.6):c.612G>A (p.V204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10616585C>T" "" "likely benign" ""
"0000533468" "0" "30" "8" "10480144" "10480144" "subst" "0.00200366" "01943" "RP1L1_000130" "g.10480144G>A" "" "" "" "RP1L1(NM_178857.5):c.568C>T (p.R190C), RP1L1(NM_178857.6):c.568C>T (p.R190C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622634G>A" "" "likely benign" ""
"0000533469" "0" "30" "8" "10480198" "10480198" "subst" "0" "02330" "RP1L1_000378" "g.10480198G>C" "" "" "" "RP1L1(NM_178857.6):c.514C>G (p.H172D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622688G>C" "" "likely benign" ""
"0000533470" "0" "30" "8" "10480223" "10480223" "subst" "0.00125922" "01943" "RP1L1_000132" "g.10480223G>T" "" "" "" "RP1L1(NM_178857.5):c.489C>A (p.R163=), RP1L1(NM_178857.6):c.489C>A (p.R163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622713G>T" "" "likely benign" ""
"0000533471" "0" "50" "8" "10480254" "10480254" "subst" "0" "02327" "RP1L1_000379" "g.10480254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622744C>T" "" "VUS" ""
"0000533472" "0" "10" "8" "10480299" "10480299" "dup" "0" "02330" "RP1L1_000380" "g.10480299dup" "" "" "" "RP1L1(NM_178857.6):c.416dupC (p.G140Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622789dup" "" "benign" ""
"0000533473" "0" "30" "8" "10480335" "10480335" "subst" "4.11658E-6" "01943" "RP1L1_000381" "g.10480335G>A" "" "" "" "RP1L1(NM_178857.5):c.377C>T (p.A126V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622825G>A" "" "likely benign" ""
"0000533474" "0" "10" "8" "10480385" "10480386" "ins" "0.00140369" "02330" "RP1L1_000016" "g.10480385_10480386insA" "" "" "" "RP1L1(NM_178857.5):c.326_327insT (p.K111Qfs*27), RP1L1(NM_178857.6):c.326_327insT (p.K111Qfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622875_10622876insA" "" "benign" ""
"0000533475" "0" "50" "8" "10480385" "10480386" "ins" "0.00140369" "01943" "RP1L1_000016" "g.10480385_10480386insA" "" "" "" "RP1L1(NM_178857.5):c.326_327insT (p.K111Qfs*27), RP1L1(NM_178857.6):c.326_327insT (p.K111Qfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622875_10622876insA" "" "VUS" ""
"0000533478" "0" "50" "8" "10480398" "10480398" "subst" "4.11394E-6" "02330" "RP1L1_000382" "g.10480398G>A" "" "" "" "RP1L1(NM_178857.6):c.314C>T (p.S105F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622888G>A" "" "VUS" ""
"0000533479" "0" "30" "8" "10480438" "10480438" "subst" "4.08924E-5" "01943" "RP1L1_000383" "g.10480438C>T" "" "" "" "RP1L1(NM_178857.5):c.274G>A (p.A92T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622928C>T" "" "likely benign" ""
"0000533480" "0" "50" "8" "10480492" "10480492" "subst" "1.22393E-5" "01943" "RP1L1_000384" "g.10480492G>C" "" "" "" "RP1L1(NM_178857.5):c.220C>G (p.L74V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622982G>C" "" "VUS" ""
"0000533481" "0" "10" "8" "10480499" "10480499" "subst" "0.000281794" "02330" "RP1L1_000385" "g.10480499G>A" "" "" "" "RP1L1(NM_178857.5):c.213C>T (p.R71=), RP1L1(NM_178857.6):c.213C>T (p.R71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622989G>A" "" "benign" ""
"0000533482" "0" "30" "8" "10480556" "10480556" "subst" "0.00155593" "01943" "RP1L1_000147" "g.10480556G>A" "" "" "" "RP1L1(NM_178857.5):c.156C>T (p.A52=), RP1L1(NM_178857.6):c.156C>T (p.A52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10623046G>A" "" "likely benign" ""
"0000533483" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "02330" "RP1L1_000006" "g.10480579G>A" "" "" "" "RP1L1(NM_178857.5):c.133C>T (p.R45W), RP1L1(NM_178857.6):c.133C>T (p.R45W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10623069G>A" "" "pathogenic" ""
"0000533484" "0" "50" "8" "10480620" "10480620" "subst" "2.90864E-5" "01943" "RP1L1_000386" "g.10480620G>A" "" "" "" "RP1L1(NM_178857.5):c.92C>T (p.T31M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10623110G>A" "" "VUS" ""
"0000533485" "0" "10" "8" "10480680" "10480680" "subst" "0.000766342" "02330" "RP1L1_000291" "g.10480680G>A" "" "" "" "RP1L1(NM_178857.5):c.32C>T (p.(Pro11Leu)), RP1L1(NM_178857.6):c.32C>T (p.P11L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10623170G>A" "" "benign" ""
"0000533488" "0" "10" "8" "10512511" "10512511" "subst" "0" "02327" "RP1L1_000387" "g.10512511G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10655001G>C" "" "benign" ""
"0000611370" "0" "30" "8" "10464435" "10464435" "subst" "4.46748E-5" "02330" "RP1L1_000388" "g.10464435G>A" "" "" "" "RP1L1(NM_178857.6):c.7173C>T (p.D2391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10606925G>A" "" "likely benign" ""
"0000611371" "0" "30" "8" "10464581" "10464581" "subst" "0" "01943" "RP1L1_000389" "g.10464581T>C" "" "" "" "RP1L1(NM_178857.5):c.7027A>G (p.M2343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607071T>C" "" "likely benign" ""
"0000611372" "0" "30" "8" "10465434" "10465434" "subst" "0.000138127" "02330" "RP1L1_000390" "g.10465434C>T" "" "" "" "RP1L1(NM_178857.5):c.6174G>A (p.P2058=), RP1L1(NM_178857.6):c.6174G>A (p.P2058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607924C>T" "" "likely benign" ""
"0000611373" "0" "30" "8" "10466343" "10466343" "subst" "4.06197E-5" "02330" "RP1L1_000391" "g.10466343G>A" "" "" "" "RP1L1(NM_178857.6):c.5265C>T (p.D1755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10608833G>A" "" "likely benign" ""
"0000611374" "0" "30" "8" "10466771" "10466771" "subst" "0.000185045" "01943" "RP1L1_000226" "g.10466771G>T" "" "" "" "RP1L1(NM_178857.5):c.4837C>A (p.L1613M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609261G>T" "" "likely benign" ""
"0000611375" "0" "30" "8" "10467094" "10467094" "subst" "0.00102323" "01943" "RP1L1_000392" "g.10467094G>A" "" "" "" "RP1L1(NM_178857.5):c.4514C>T (p.S1505L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609584G>A" "" "likely benign" ""
"0000611376" "0" "30" "8" "10467285" "10467285" "subst" "0.00083024" "01943" "RP1L1_000054" "g.10467285C>T" "" "" "" "RP1L1(NM_178857.5):c.4323G>A (p.P1441=), RP1L1(NM_178857.6):c.4323G>A (p.P1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609775C>T" "" "likely benign" ""
"0000611377" "0" "30" "8" "10468475" "10468475" "subst" "8.38736E-6" "02330" "RP1L1_000395" "g.10468475C>T" "" "" "" "RP1L1(NM_178857.6):c.3133G>A (p.G1045R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610965C>T" "" "likely benign" ""
"0000611378" "0" "30" "8" "10468582" "10468582" "subst" "4.96114E-5" "01943" "RP1L1_000245" "g.10468582G>A" "" "" "" "RP1L1(NM_178857.5):c.3026C>T (p.A1009V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611072G>A" "" "likely benign" ""
"0000611379" "0" "30" "8" "10468635" "10468635" "subst" "1.65259E-5" "01943" "RP1L1_000396" "g.10468635C>T" "" "" "" "RP1L1(NM_178857.5):c.2973G>A (p.E991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611125C>T" "" "likely benign" ""
"0000611380" "0" "30" "8" "10468854" "10468854" "subst" "7.01465E-5" "02330" "RP1L1_000397" "g.10468854C>T" "" "" "" "RP1L1(NM_178857.6):c.2754G>A (p.G918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611344C>T" "" "likely benign" ""
"0000611381" "0" "30" "8" "10468911" "10468911" "subst" "3.72207E-5" "01943" "RP1L1_000398" "g.10468911C>T" "" "" "" "RP1L1(NM_178857.5):c.2697G>A (p.P899=), RP1L1(NM_178857.6):c.2697G>A (p.P899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611401C>T" "" "likely benign" ""
"0000611382" "0" "50" "8" "10469005" "10469005" "subst" "0" "01943" "RP1L1_000399" "g.10469005G>A" "" "" "" "RP1L1(NM_178857.5):c.2603C>T (p.S868F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611495G>A" "" "VUS" ""
"0000611383" "0" "10" "8" "10469025" "10469025" "subst" "0.000681652" "02330" "RP1L1_000091" "g.10469025G>A" "" "" "" "RP1L1(NM_178857.5):c.2583C>T (p.P861=), RP1L1(NM_178857.6):c.2583C>T (p.P861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611515G>A" "" "benign" ""
"0000611384" "0" "10" "8" "10469346" "10469346" "subst" "0.000686964" "02330" "RP1L1_000400" "g.10469346C>T" "" "" "" "RP1L1(NM_178857.6):c.2262G>A (p.P754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611836C>T" "" "benign" ""
"0000611385" "0" "10" "8" "10470180" "10470180" "subst" "1.71272E-5" "02330" "RP1L1_000401" "g.10470180C>T" "" "" "" "RP1L1(NM_178857.6):c.1428G>A (p.P476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612670C>T" "" "benign" ""
"0000611386" "0" "10" "8" "10470222" "10470222" "subst" "0.00193387" "02330" "RP1L1_000366" "g.10470222G>A" "" "" "" "RP1L1(NM_178857.5):c.1386C>T (p.P462=), RP1L1(NM_178857.6):c.1386C>T (p.P462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612712G>A" "" "benign" ""
"0000611387" "0" "70" "8" "10470419" "10470419" "subst" "3.67029E-5" "02327" "RP1L1_000402" "g.10470419G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612909G>A" "" "likely pathogenic" ""
"0000611388" "0" "10" "8" "10470757" "10470757" "subst" "0.00117972" "02330" "RP1L1_000373" "g.10470757G>A" "" "" "" "RP1L1(NM_178857.5):c.851C>T (p.P284L), RP1L1(NM_178857.6):c.851C>T (p.P284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10613247G>A" "" "benign" ""
"0000611390" "0" "10" "8" "10480292" "10480292" "subst" "0.0014085" "02330" "RP1L1_000136" "g.10480292G>T" "" "" "" "RP1L1(NM_178857.5):c.420C>A (p.G140=), RP1L1(NM_178857.6):c.420C>A (p.G140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622782G>T" "" "benign" ""
"0000611391" "0" "50" "8" "10480645" "10480645" "subst" "0.000306341" "01943" "RP1L1_000403" "g.10480645G>A" "" "" "" "RP1L1(NM_178857.5):c.67C>T (p.R23C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10623135G>A" "" "VUS" ""
"0000621974" "0" "30" "8" "10467993" "10467993" "subst" "6.5057E-5" "02330" "RP1L1_000393" "g.10467993G>A" "" "" "" "RP1L1(NM_178857.6):c.3615C>T (p.S1205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610483G>A" "" "likely benign" ""
"0000621975" "0" "30" "8" "10468407" "10468407" "subst" "0.00023572" "02330" "RP1L1_000394" "g.10468407G>A" "" "" "" "RP1L1(NM_178857.5):c.3201C>T (p.G1067=), RP1L1(NM_178857.6):c.3201C>T (p.G1067=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610897G>A" "" "likely benign" ""
"0000621976" "0" "30" "8" "10469289" "10469289" "subst" "0.00134254" "01943" "RP1L1_000096" "g.10469289C>T" "" "" "" "RP1L1(NM_178857.5):c.2319G>A (p.P773=), RP1L1(NM_178857.6):c.2319G>A (p.P773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611779C>T" "" "likely benign" ""
"0000652398" "1" "30" "8" "10464604" "10464604" "subst" "0.0313668" "03575" "RP1L1_000150" "g.10464604T>C" "28/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs117007660}" "Germline" "" "rs117007660" "0" "" "" "g.10607094T>C" "" "likely benign" ""
"0000652399" "1" "30" "8" "10466161" "10466161" "subst" "0.0346228" "03575" "RP1L1_000404" "g.10466161C>T" "263/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "263 heterozygous; {DB:CLININrs79019225}" "Germline" "" "rs79019225" "0" "" "" "g.10608651C>T" "" "likely benign" ""
"0000652401" "1" "10" "8" "10480546" "10480546" "subst" "0.0116014" "03575" "RP1L1_000146" "g.10480546G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs150931842}" "Germline" "" "rs150931842" "0" "" "" "g.10623036G>A" "" "benign" ""
"0000652402" "1" "30" "8" "10480635" "10480635" "subst" "0.000181378" "03575" "RP1L1_000290" "g.10480635G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs185749010}" "Germline" "" "rs185749010" "0" "" "" "g.10623125G>A" "" "likely benign" ""
"0000655955" "0" "10" "8" "10464465" "10464465" "subst" "0.000714779" "02330" "RP1L1_000405" "g.10464465G>A" "" "" "" "RP1L1(NM_178857.6):c.7143C>T (p.L2381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10606955G>A" "" "benign" ""
"0000655956" "0" "10" "8" "10464474" "10464474" "subst" "0.000706656" "02330" "RP1L1_000406" "g.10464474G>T" "" "" "" "RP1L1(NM_178857.6):c.7134C>A (p.L2378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10606964G>T" "" "benign" ""
"0000655957" "0" "30" "8" "10465086" "10465086" "subst" "6.14794E-5" "02330" "RP1L1_000407" "g.10465086T>C" "" "" "" "RP1L1(NM_178857.6):c.6522A>G (p.Q2174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10607576T>C" "" "likely benign" ""
"0000655958" "0" "10" "8" "10466054" "10466054" "subst" "0.000776044" "02330" "RP1L1_000408" "g.10466054C>G" "" "" "" "RP1L1(NM_178857.6):c.5554G>C (p.E1852Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10608544C>G" "" "benign" ""
"0000655959" "0" "30" "8" "10466094" "10466094" "subst" "8.53936E-5" "01943" "RP1L1_000409" "g.10466094C>T" "" "" "" "RP1L1(NM_178857.5):c.5514G>A (p.P1838=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10608584C>T" "" "likely benign" ""
"0000655961" "0" "10" "8" "10466933" "10466933" "subst" "0.000514903" "02330" "RP1L1_000410" "g.10466933C>T" "" "" "" "RP1L1(NM_178857.6):c.4675G>A (p.E1559K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10609423C>T" "" "benign" ""
"0000655962" "0" "30" "8" "10467753" "10467753" "subst" "0.000162446" "01943" "RP1L1_000411" "g.10467753C>T" "" "" "" "RP1L1(NM_178857.5):c.3855G>A (p.A1285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610243C>T" "" "likely benign" ""
"0000655963" "0" "50" "8" "10467991" "10467991" "subst" "4.0655E-6" "01943" "RP1L1_000412" "g.10467991C>T" "" "" "" "RP1L1(NM_178857.5):c.3617G>A (p.G1206D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610481C>T" "" "VUS" ""
"0000655964" "0" "30" "8" "10468407" "10468407" "subst" "0.00023572" "01943" "RP1L1_000394" "g.10468407G>A" "" "" "" "RP1L1(NM_178857.5):c.3201C>T (p.G1067=), RP1L1(NM_178857.6):c.3201C>T (p.G1067=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610897G>A" "" "likely benign" ""
"0000655965" "0" "30" "8" "10468418" "10468418" "subst" "0" "01943" "RP1L1_000413" "g.10468418C>A" "" "" "" "RP1L1(NM_178857.5):c.3190G>T (p.A1064S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10610908C>A" "" "likely benign" ""
"0000655966" "0" "30" "8" "10469011" "10469011" "subst" "0" "01943" "RP1L1_000414" "g.10469011C>T" "" "" "" "RP1L1(NM_178857.5):c.2597G>A (p.R866H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611501C>T" "" "likely benign" ""
"0000655967" "0" "50" "8" "10469041" "10469041" "subst" "5.01329E-5" "01943" "RP1L1_000253" "g.10469041G>A" "" "" "" "RP1L1(NM_178857.5):c.2567C>T (p.P856L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611531G>A" "" "VUS" ""
"0000655968" "0" "30" "8" "10469454" "10469454" "subst" "0.000475486" "01804" "RP1L1_000358" "g.10469454G>T" "" "" "" "RP1L1(NM_178857.5):c.2154C>A (p.N718K, p.(Asn718Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10611944G>T" "" "likely benign" ""
"0000655969" "0" "10" "8" "10469813" "10469813" "subst" "0.000505425" "02330" "RP1L1_000362" "g.10469813C>T" "" "" "" "RP1L1(NM_178857.5):c.1795G>A (p.E599K), RP1L1(NM_178857.6):c.1795G>A (p.E599K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612303C>T" "" "benign" ""
"0000655970" "0" "30" "8" "10470311" "10470311" "subst" "0.000716653" "01943" "RP1L1_000415" "g.10470311G>A" "" "" "" "RP1L1(NM_178857.5):c.1297C>T (p.R433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10612801G>A" "" "likely benign" ""
"0000655971" "0" "30" "8" "10470795" "10470795" "subst" "8.42254E-6" "01943" "RP1L1_000416" "g.10470795C>T" "" "" "" "RP1L1(NM_178857.5):c.813G>A (p.T271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10613285C>T" "" "likely benign" ""
"0000655972" "0" "50" "8" "10480341" "10480341" "subst" "2.88446E-5" "02330" "RP1L1_000417" "g.10480341G>A" "" "" "" "RP1L1(NM_178857.6):c.371C>T (p.P124L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10622831G>A" "" "VUS" ""
"0000655973" "0" "30" "8" "10480544" "10480544" "subst" "0.000287104" "01943" "RP1L1_000145" "g.10480544G>A" "" "" "" "RP1L1(NM_178857.5):c.168C>T (p.R56=), RP1L1(NM_178857.6):c.168C>T (p.R56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10623034G>A" "" "likely benign" ""
"0000655974" "0" "30" "8" "10480544" "10480544" "subst" "0.00068905" "01943" "RP1L1_000418" "g.10480544G>T" "" "" "" "RP1L1(NM_178857.5):c.168C>A (p.R56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10623034G>T" "" "likely benign" ""
"0000666150" "3" "90" "8" "10470486" "10470486" "subst" "4.07435E-6" "01807" "RP1L1_000419" "g.10470486C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10612976C>T" "" "pathogenic" ""
"0000669991" "3" "30" "8" "10466161" "10466161" "subst" "0.0346228" "03575" "RP1L1_000404" "g.10466161C>T" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs79019225}" "Germline" "" "rs79019225" "0" "" "" "g.10608651C>T" "" "likely benign" ""
"0000678249" "0" "30" "8" "10464459" "10464459" "subst" "8.12229E-6" "01943" "RP1L1_000420" "g.10464459G>T" "" "" "" "RP1L1(NM_178857.5):c.7149C>A (p.P2383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678250" "0" "30" "8" "10466562" "10466562" "subst" "4.06256E-6" "01943" "RP1L1_000421" "g.10466562G>A" "" "" "" "RP1L1(NM_178857.5):c.5046C>T (p.P1682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678251" "0" "30" "8" "10466702" "10466702" "subst" "0.000650077" "01943" "RP1L1_000422" "g.10466702C>T" "" "" "" "RP1L1(NM_178857.5):c.4906G>A (p.E1636K), RP1L1(NM_178857.6):c.4906G>A (p.E1636K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678252" "0" "50" "8" "10467059" "10467059" "subst" "1.25568E-5" "01943" "RP1L1_000423" "g.10467059T>A" "" "" "" "RP1L1(NM_178857.5):c.4549A>T (p.I1517F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000678253" "0" "30" "8" "10467080" "10467080" "subst" "2.94447E-5" "01943" "RP1L1_000424" "g.10467080C>T" "" "" "" "RP1L1(NM_178857.5):c.4528G>A (p.A1510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678254" "0" "30" "8" "10468554" "10468554" "subst" "1.24376E-5" "01943" "RP1L1_000425" "g.10468554G>A" "" "" "" "RP1L1(NM_178857.5):c.3054C>T (p.P1018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678255" "0" "50" "8" "10468765" "10468765" "subst" "4.08253E-6" "02330" "RP1L1_000426" "g.10468765A>G" "" "" "" "RP1L1(NM_178857.6):c.2843T>C (p.L948P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000678256" "0" "30" "8" "10468912" "10468912" "subst" "0" "01943" "RP1L1_000427" "g.10468912G>T" "" "" "" "RP1L1(NM_178857.5):c.2696C>A (p.P899Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678257" "0" "30" "8" "10469110" "10469110" "subst" "6.28025E-5" "01943" "RP1L1_000428" "g.10469110G>A" "" "" "" "RP1L1(NM_178857.5):c.2498C>T (p.P833L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678258" "0" "30" "8" "10469547" "10469547" "subst" "0.00017471" "01943" "RP1L1_000429" "g.10469547C>G" "" "" "" "RP1L1(NM_178857.5):c.2061G>C (p.P687=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678259" "0" "30" "8" "10469736" "10469736" "subst" "4.07963E-6" "01943" "RP1L1_000430" "g.10469736G>C" "" "" "" "RP1L1(NM_178857.5):c.1872C>G (p.A624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678260" "0" "30" "8" "10469802" "10469802" "subst" "2.03842E-5" "01943" "RP1L1_000361" "g.10469802C>G" "" "" "" "RP1L1(NM_178857.5):c.1806G>C (p.T602=), RP1L1(NM_178857.6):c.1806G>C (p.T602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678261" "0" "30" "8" "10469830" "10469830" "subst" "5.29808E-5" "01943" "RP1L1_000265" "g.10469830G>A" "" "" "" "RP1L1(NM_178857.5):c.1778C>T (p.T593M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678262" "0" "50" "8" "10470578" "10470578" "subst" "2.04028E-5" "01943" "RP1L1_000163" "g.10470578C>A" "" "" "" "RP1L1(NM_178857.5):c.1030G>T (p.G344C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000678263" "0" "50" "8" "10470655" "10470655" "subst" "8.18645E-6" "02327" "RP1L1_000431" "g.10470655T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000678264" "0" "30" "8" "10480214" "10480214" "subst" "0" "01943" "RP1L1_000432" "g.10480214C>T" "" "" "" "RP1L1(NM_178857.5):c.498G>A (p.Q166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000684673" "1" "50" "8" "10466933" "10466933" "subst" "0.000514903" "00004" "RP1L1_000410" "g.10466933C>T" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000684707" "2" "70" "8" "10480387" "10480388" "ins" "0.00199136" "00004" "RP1L1_000285" "g.10480387_10480388insA" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684770" "0" "30" "8" "10480387" "10480388" "" "0.00199136" "00004" "RP1L1_000285" "g.10480387_10480388insA" "frequency 0.026" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.10622877_10622878insA" "" "likely benign" ""
"0000690130" "0" "30" "8" "10467672" "10467672" "dup" "0" "01804" "RP1L1_000433" "g.10467672dup" "" "" "" "RP1L1(NM_178857.5):c.3936dup (p.(Glu1313ArgfsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690131" "0" "30" "8" "10467673" "10467674" "ins" "0" "01804" "RP1L1_000434" "g.10467673_10467674insTGTTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTT" "" "" "" "RP1L1(NM_178857.5):c.3934_3935insAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACA (p.(Gly1312GlufsTer26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690132" "0" "30" "8" "10467754" "10467754" "subst" "0.000150334" "02330" "RP1L1_000334" "g.10467754G>A" "" "" "" "RP1L1(NM_178857.5):c.3854C>T (p.A1285V), RP1L1(NM_178857.6):c.3854C>T (p.A1285V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690133" "0" "50" "8" "10480394" "10480394" "subst" "0" "01943" "RP1L1_000435" "g.10480394A>T" "" "" "" "RP1L1(NM_178857.5):c.318T>A (p.D106E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721744" "0" "30" "8" "10465132" "10465132" "subst" "4.46795E-5" "01943" "RP1L1_000436" "g.10465132G>A" "" "" "" "RP1L1(NM_178857.5):c.6476C>T (p.P2159L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721745" "0" "30" "8" "10465434" "10465434" "subst" "0.000138127" "01943" "RP1L1_000390" "g.10465434C>T" "" "" "" "RP1L1(NM_178857.5):c.6174G>A (p.P2058=), RP1L1(NM_178857.6):c.6174G>A (p.P2058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721746" "0" "50" "8" "10467149" "10467149" "subst" "1.24764E-5" "01943" "RP1L1_000437" "g.10467149C>T" "" "" "" "RP1L1(NM_178857.5):c.4459G>A (p.G1487S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721747" "0" "30" "8" "10467604" "10467605" "ins" "0" "02326" "RP1L1_000319" "g.10467604_10467605insTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC" "" "" "" "RP1L1(NM_178857.5):c.4018_4019ins48 (p.E1339_E1340ins16), RP1L1(NM_178857.6):c.4018_4019ins48 (p.E1339_E1340ins16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721748" "0" "10" "8" "10467627" "10467628" "ins" "0" "02330" "RP1L1_000438" "g.10467627_10467628insAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCC" "" "" "" "RP1L1(NM_178857.6):c.3980_3981ins33 (p.G1330_E1340dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000721749" "0" "50" "8" "10468350" "10468350" "subst" "0" "01943" "RP1L1_000439" "g.10468350C>T" "" "" "" "RP1L1(NM_178857.5):c.3258G>A (p.M1086I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721750" "0" "10" "8" "10469292" "10469292" "subst" "0.0680929" "02327" "RP1L1_000440" "g.10469292C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000721751" "0" "50" "8" "10469846" "10469846" "subst" "0.000301824" "01943" "RP1L1_000441" "g.10469846C>A" "" "" "" "RP1L1(NM_178857.5):c.1762G>T (p.D588Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721752" "0" "30" "8" "10469906" "10469906" "subst" "0" "01943" "RP1L1_000107" "g.10469906C>G" "" "" "" "RP1L1(NM_178857.5):c.1702G>C (p.A568P), RP1L1(NM_178857.6):c.1702G>C (p.A568P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721753" "0" "30" "8" "10470117" "10470117" "subst" "0.000429985" "01943" "RP1L1_000442" "g.10470117C>G" "" "" "" "RP1L1(NM_178857.5):c.1491G>C (p.G497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721754" "0" "30" "8" "10470291" "10470291" "subst" "1.24954E-5" "01943" "RP1L1_000367" "g.10470291G>T" "" "" "" "RP1L1(NM_178857.5):c.1317C>A (p.G439=), RP1L1(NM_178857.6):c.1317C>A (p.G439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721755" "0" "50" "8" "10470357" "10470358" "dup" "0" "02329" "RP1L1_000369" "g.10470357_10470358dup" "" "" "" "RP1L1(NM_178857.6):c.1257_1258dupAG (p.V420Efs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721756" "0" "30" "8" "10474035" "10474035" "subst" "0.000125923" "01943" "RP1L1_000443" "g.10474035G>A" "" "" "" "RP1L1(NM_178857.5):c.672C>T (p.A224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721757" "0" "90" "8" "10474085" "10474085" "subst" "1.63615E-5" "01943" "RP1L1_000444" "g.10474085G>A" "" "" "" "RP1L1(NM_178857.5):c.622C>T (p.Q208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000721758" "0" "30" "8" "10480225" "10480225" "subst" "0.000467168" "01943" "RP1L1_000133" "g.10480225G>C" "" "" "" "RP1L1(NM_178857.5):c.487C>G (p.R163G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721759" "0" "50" "8" "10480257" "10480257" "subst" "0.000338494" "01943" "RP1L1_000445" "g.10480257C>T" "" "" "" "RP1L1(NM_178857.5):c.455G>A (p.R152Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721760" "0" "90" "8" "10480469" "10480470" "del" "8.15654E-6" "02327" "RP1L1_000447" "g.10480469_10480470del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000721761" "0" "30" "8" "10480683" "10480683" "subst" "4.77518E-6" "01943" "RP1L1_000448" "g.10480683G>A" "" "" "" "RP1L1(NM_178857.5):c.29C>T (p.A10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000729763" "1" "90" "8" "10480387" "10480388" "ins" "0.00199136" "00000" "RP1L1_000285" "g.10480387_10480388insA" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "rs138816053" "0" "" "" "g.10622877_10622878insA" "" "pathogenic" ""
"0000729788" "2" "70" "8" "10480432" "10480432" "subst" "0" "00000" "RP1L1_000446" "g.10480432C>G" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "rs942687332" "0" "" "" "g.10622922C>G" "" "likely pathogenic" ""
"0000730686" "1" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "pathogenic (dominant)" ""
"0000730687" "1" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "pathogenic (dominant)" ""
"0000731007" "3" "70" "8" "10470470" "10470470" "subst" "0.00225143" "00000" "RP1L1_000116" "g.10470470C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs184332984" "0" "" "" "g.10612960C>T" "" "likely pathogenic (recessive)" ""
"0000731008" "3" "70" "8" "10470338" "10470338" "subst" "7.00638E-5" "00000" "RP1L1_000451" "g.10470338T>A" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs770463388" "0" "" "" "g.10612828T>A" "" "likely pathogenic (recessive)" ""
"0000731057" "0" "50" "8" "10465249" "10465249" "subst" "0" "00000" "RP1L1_000449" "g.10465249T>C" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "" "0" "" "" "g.10607739T>C" "" "VUS" ""
"0000731495" "1" "50" "8" "10468690" "10468690" "subst" "0.000822741" "00000" "RP1L1_000450" "g.10468690T>C" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.10611180T>C" "" "VUS" ""
"0000732470" "0" "50" "8" "10466988" "10466988" "subst" "0.00232887" "00000" "RP1L1_000452" "g.10466988C>G" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.10609478C>G" "" "VUS" ""
"0000732545" "1" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "pathogenic (dominant)" ""
"0000759624" "2" "50" "8" "10480375" "10480375" "subst" "0.00228365" "00237" "RP1L1_000139" "g.10480375G>A" "" "{PMID:Davidson 2013:23281133}" "" "Pro113Ser" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000759625" "1" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "RP1L1_000006" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000759626" "1" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "RP1L1_000006" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000759627" "1" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "RP1L1_000006" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000759628" "1" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "RP1L1_000006" "{PMID:Davidson 2013:23281133}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000759629" "1" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "pathogenic" ""
"0000759630" "1" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "pathogenic" ""
"0000759631" "1" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10623069G>A" "" "pathogenic" ""
"0000759632" "1" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10623069G>A" "" "pathogenic" ""
"0000759633" "1" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10623069G>A" "" "pathogenic" ""
"0000759634" "1" "70" "8" "10469582" "10469582" "subst" "1.21881E-5" "00000" "RP1L1_000260" "g.10469582T>A" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10612072T>A" "" "likely pathogenic" ""
"0000759635" "0" "70" "8" "10468094" "10468094" "subst" "0.00311664" "00000" "RP1L1_000079" "g.10468094G>T" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10610584G>T" "" "likely pathogenic" ""
"0000759636" "1" "90" "8" "10468027" "10468027" "subst" "5.68856E-5" "00000" "RP1L1_000459" "g.10468027G>A" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10610517G>A" "" "pathogenic" ""
"0000759637" "0" "90" "8" "10468021" "10468021" "subst" "4.06329E-6" "00000" "RP1L1_000458" "g.10468021G>A" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10610511G>A" "" "pathogenic" ""
"0000759638" "1" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10610502G>C" "" "pathogenic" ""
"0000759639" "1" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "g.10610502G>C" "" "pathogenic" ""
"0000759640" "1" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "g.10610502G>C" "" "pathogenic" ""
"0000759641" "1" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000455" "g.10468009C>T" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "g.10610499C>T" "" "pathogenic" ""
"0000759642" "1" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000005" "g.10468009C>G" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "g.10610499C>G" "" "pathogenic" ""
"0000759643" "1" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000456" "g.10468009C>A" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "g.10610499C>A" "" "pathogenic" ""
"0000759644" "1" "90" "8" "10468006" "10468006" "subst" "0" "00000" "RP1L1_000454" "g.10468006A>C" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "g.10610496A>C" "" "pathogenic" ""
"0000759645" "0" "70" "8" "10466958" "10466958" "subst" "8.26685E-6" "00000" "RP1L1_000229" "g.10466958A>C" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "g.10609448A>C" "" "likely pathogenic" ""
"0000759646" "3" "70" "8" "10465545" "10465545" "del" "0.000138135" "00000" "RP1L1_000453" "g.10465545del" "" "{PMID:Fujinami 2016:27623337}" "" "6063delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10608035del" "" "likely pathogenic" ""
"0000759647" "1" "90" "8" "10474046" "10474046" "subst" "4.06398E-6" "00000" "RP1L1_000460" "g.10474046C>T" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10616536C>T" "" "pathogenic" ""
"0000759946" "1" "90" "8" "10470470" "10470470" "subst" "0.00225143" "00000" "RP1L1_000116" "g.10470470C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.10612960C>T" "" "pathogenic (recessive)" ""
"0000760107" "0" "50" "8" "10470470" "10470470" "subst" "0.00225143" "00000" "RP1L1_000116" "g.10470470C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.10612960C>T" "" "VUS" ""
"0000763760" "0" "50" "8" "10465636" "10465636" "subst" "4.06497E-6" "00000" "RP1L1_000461" "g.10465636C>T" "" "{PMID:Duvvari 2016:27007659}" "" "5972C>T" "" "Germline" "" "" "0" "" "" "g.10608126C>T" "" "VUS" ""
"0000763796" "0" "50" "8" "10464616" "10464616" "subst" "0.00154723" "00000" "RP1L1_000295" "g.10464616G>A" "" "{PMID:Duvvari 2016:27007659}" "" "6992G>A" "" "Germline" "" "rs147334256" "0" "" "" "g.10607106G>A" "" "VUS" ""
"0000764111" "3" "90" "8" "10480387" "10480388" "ins" "0.00199136" "04043" "RP1L1_000285" "g.10480387_10480388insA" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "no" "" "0" "" "" "g.10622877_10622878insA" "" "pathogenic" ""
"0000764886" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic (dominant)" ""
"0000764891" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic (dominant)" ""
"0000764892" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic (dominant)" ""
"0000765890" "0" "70" "8" "10465649" "10465649" "subst" "0.00161808" "00000" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.10608139G>A" "" "likely pathogenic" ""
"0000784629" "0" "50" "8" "10470625" "10470625" "subst" "2.86137E-5" "00000" "RP1L1_000465" "g.10470625C>T" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.10613115C>T" "" "VUS" ""
"0000784635" "0" "50" "8" "10470407" "10470407" "subst" "8.1612E-6" "00000" "RP1L1_000464" "g.10470407G>T" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.10612897G>T" "" "VUS" ""
"0000784639" "0" "50" "8" "10466100" "10466100" "subst" "0" "00000" "RP1L1_000463" "g.10466100C>G" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.10608590C>G" "" "VUS" ""
"0000785519" "3" "90" "8" "10467980" "10467980" "subst" "0" "00006" "RP1L1_000462" "g.10467980A>G" "" "{PMID:Kikuchi 2015:25692141}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000788114" "3" "90" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.10612126G>A" "" "pathogenic" ""
"0000788115" "3" "90" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.10612126G>A" "" "pathogenic" ""
"0000788116" "3" "90" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.10612126G>A" "" "pathogenic" ""
"0000788117" "3" "90" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.10612126G>A" "" "pathogenic" ""
"0000788118" "3" "90" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.10612126G>A" "" "pathogenic" ""
"0000788119" "3" "90" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.10612126G>A" "" "pathogenic" ""
"0000788146" "3" "70" "8" "10480477" "10480477" "subst" "0.00013871" "00000" "RP1L1_000143" "g.10480477G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.10622967G>A" "" "likely pathogenic" ""
"0000788323" "0" "50" "8" "10466998" "10466998" "subst" "4.13117E-6" "00000" "RP1L1_000468" "g.10466998G>T" "" "{PMID:Katagiri 2014:25268133}" "" "C4610A" "" "Germline" "" "" "0" "" "" "g.10609488G>T" "" "VUS" ""
"0000788415" "0" "50" "8" "10465545" "10465545" "del" "0.000138135" "00000" "RP1L1_000453" "g.10465545del" "" "{PMID:Katagiri 2014:25268133}" "" "6063delC" "" "Germline" "" "" "0" "" "" "g.10608035del" "" "VUS" ""
"0000788423" "0" "50" "8" "10465022" "10465022" "subst" "8.14299E-6" "00000" "RP1L1_000467" "g.10465022T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A6586G" "" "Germline" "" "rs200407750" "0" "" "" "g.10607512T>C" "" "VUS" ""
"0000788431" "0" "50" "8" "10464767" "10464767" "subst" "0" "00000" "RP1L1_000466" "g.10464767G>T" "" "{PMID:Katagiri 2014:25268133}" "" "C6841A" "" "Germline" "" "" "0" "" "" "g.10607257G>T" "" "VUS" ""
"0000788478" "0" "50" "8" "10465545" "10465545" "del" "0.000138135" "00000" "RP1L1_000453" "g.10465545del" "" "{PMID:Katagiri 2014:25268133}" "" "6063delC" "" "Germline" "" "" "0" "" "" "g.10608035del" "" "VUS" ""
"0000789873" "0" "50" "8" "10480385" "10480386" "ins" "0.00140369" "00000" "RP1L1_000016" "g.10480385_10480386insA" "" "{PMID:Avela 2019:31087526}" "" "c.326_327insT" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000792258" "0" "90" "8" "10465649" "10465649" "subst" "0.00161808" "00000" "RP1L1_000302" "g.10465649G>A" "" "{PMID:_Audo-2012:22277662}" "" "c.5959C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000794081" "0" "70" "8" "10469636" "10469636" "subst" "2.03221E-5" "03508" "RP1L1_000262" "g.10469636G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794082" "0" "70" "8" "10467686" "10467686" "subst" "0" "03508" "RP1L1_000239" "g.10467686C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794707" "0" "70" "8" "10480159" "10480159" "subst" "0" "00000" "RP1L1_000469" "g.10480159C>A" "" "{PMID:Kersten 2018:30215852}" "" "c.553G>T; p.A185S" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10622649C>A" "" "likely pathogenic" ""
"0000803369" "0" "50" "8" "10465048" "10465048" "subst" "8.12328E-6" "01943" "RP1L1_000470" "g.10465048C>T" "" "" "" "RP1L1(NM_178857.5):c.6560G>A (p.G2187E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803370" "0" "50" "8" "10465088" "10465088" "subst" "7.3116E-5" "02330" "RP1L1_000471" "g.10465088G>T" "" "" "" "RP1L1(NM_178857.6):c.6520C>A (p.Q2174K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803371" "0" "50" "8" "10465461" "10465461" "subst" "0.000227474" "01943" "RP1L1_000472" "g.10465461C>A" "" "" "" "RP1L1(NM_178857.5):c.6147G>T (p.Q2049H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803372" "0" "10" "8" "10465847" "10465847" "subst" "0.00187084" "02327" "RP1L1_000473" "g.10465847T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000803373" "0" "10" "8" "10466010" "10466030" "del" "0" "02327" "RP1L1_000474" "g.10466010_10466030del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000803374" "0" "50" "8" "10466604" "10466604" "subst" "0" "01943" "RP1L1_000475" "g.10466604G>C" "" "" "" "RP1L1(NM_178857.5):c.5004C>G (p.S1668R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803375" "0" "30" "8" "10466937" "10466937" "subst" "0.000945078" "02330" "RP1L1_000046" "g.10466937C>T" "" "" "" "RP1L1(NM_178857.5):c.4671G>A (p.A1557=), RP1L1(NM_178857.6):c.4671G>A (p.A1557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803376" "0" "10" "8" "10466946" "10466946" "subst" "0.00252816" "02330" "RP1L1_000047" "g.10466946G>C" "" "" "" "RP1L1(NM_178857.5):c.4662C>G (p.D1554E), RP1L1(NM_178857.6):c.4662C>G (p.D1554E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000803377" "0" "30" "8" "10467589" "10467590" "ins" "0" "02327" "RP1L1_000476" "g.10467589_10467590insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803378" "0" "30" "8" "10467637" "10467637" "subst" "0" "02327" "RP1L1_000069" "g.10467637T>C" "" "" "" "RP1L1(NM_178857.5):c.3971A>G (p.E1324G), RP1L1(NM_178857.6):c.3971A>G (p.E1324G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803379" "0" "30" "8" "10467762" "10467762" "subst" "0" "01943" "RP1L1_000477" "g.10467762C>G" "" "" "" "RP1L1(NM_178857.5):c.3846G>C (p.E1282D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803380" "0" "50" "8" "10467966" "10467966" "subst" "8.13134E-6" "01943" "RP1L1_000478" "g.10467966G>T" "" "" "" "RP1L1(NM_178857.5):c.3642C>A (p.S1214R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803381" "0" "50" "8" "10468028" "10468028" "subst" "4.06319E-6" "01943" "RP1L1_000479" "g.10468028T>A" "" "" "" "RP1L1(NM_178857.5):c.3580A>T (p.T1194S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803382" "0" "30" "8" "10468390" "10468390" "subst" "7.22857E-5" "01943" "RP1L1_000480" "g.10468390C>T" "" "" "" "RP1L1(NM_178857.5):c.3218G>A (p.R1073Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803383" "0" "10" "8" "10468483" "10468483" "subst" "0.000405844" "02330" "RP1L1_000341" "g.10468483A>T" "" "" "" "RP1L1(NM_178857.5):c.3125T>A (p.V1042D), RP1L1(NM_178857.6):c.3125T>A (p.V1042D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000803384" "0" "50" "8" "10468759" "10468759" "subst" "0.000273836" "01943" "RP1L1_000004" "g.10468759C>T" "" "" "" "RP1L1(NM_178857.5):c.2849G>A (p.R950H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803385" "0" "50" "8" "10469675" "10469675" "subst" "5.69578E-5" "01943" "RP1L1_000481" "g.10469675C>A" "" "" "" "RP1L1(NM_178857.5):c.1933G>T (p.A645S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803386" "0" "10" "8" "10470148" "10470148" "subst" "0.0738622" "02327" "RP1L1_000482" "g.10470148G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000803387" "0" "50" "8" "10470439" "10470439" "subst" "2.03865E-5" "02330" "RP1L1_000370" "g.10470439C>T" "" "" "" "RP1L1(NM_178857.5):c.1169G>A (p.G390E), RP1L1(NM_178857.6):c.1169G>A (p.G390E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803388" "0" "50" "8" "10470667" "10470667" "subst" "8.1894E-6" "01943" "RP1L1_000483" "g.10470667C>T" "" "" "" "RP1L1(NM_178857.5):c.941G>A (p.R314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803389" "0" "30" "8" "10470683" "10470683" "subst" "8.19524E-6" "01943" "RP1L1_000484" "g.10470683T>G" "" "" "" "RP1L1(NM_178857.5):c.925A>C (p.M309L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803390" "0" "30" "8" "10474117" "10474117" "subst" "0.000271288" "02330" "RP1L1_000485" "g.10474117G>A" "" "" "" "RP1L1(NM_178857.6):c.610-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803392" "0" "50" "8" "10480120" "10480120" "subst" "0" "01943" "RP1L1_000165" "g.10480120T>C" "" "" "" "RP1L1(NM_178857.5):c.592A>G (p.T198A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803393" "0" "30" "8" "10480189" "10480189" "subst" "0.000263977" "02330" "RP1L1_000486" "g.10480189T>C" "" "" "" "RP1L1(NM_178857.6):c.523A>G (p.T175A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803394" "0" "50" "8" "10480234" "10480234" "subst" "1.2188E-5" "01943" "RP1L1_000487" "g.10480234T>C" "" "" "" "RP1L1(NM_178857.5):c.478A>G (p.M160V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803395" "0" "30" "8" "10480526" "10480526" "subst" "0.000147372" "01943" "RP1L1_000488" "g.10480526G>A" "" "" "" "RP1L1(NM_178857.5):c.186C>T (p.S62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000811494" "0" "50" "8" "10466933" "10466933" "subst" "0.000514903" "00000" "RP1L1_000410" "g.10466933C>T" "" "{PMID:Kim 2019:31496144}" "" "RP1L1 c.4675G>A, p.E1559K" "" "Germline" "?" "" "0" "" "" "g.10609423C>T" "" "VUS" "ACMG"
"0000811528" "0" "70" "8" "10480387" "10480388" "ins" "0.00199136" "00000" "RP1L1_000285" "g.10480387_10480388insA" "" "{PMID:Kim 2019:31496144}" "" "RP1L1 c.324_325insT, p.P109delinsSPfs" "" "Germline" "?" "" "0" "" "" "g.10622877_10622878insA" "" "likely pathogenic" "ACMG"
"0000811694" "0" "70" "8" "10480656" "10480656" "subst" "3.89705E-5" "00000" "RP1L1_000492" "g.10480656G>T" "" "{PMID:Hu 2019:31236346}" "" "c.56C>A p.Pro19His" "" "Germline" "?" "" "0" "" "" "g.10623146G>T" "" "likely pathogenic" ""
"0000811695" "0" "70" "8" "10466138" "10466138" "subst" "0" "00000" "RP1L1_000489" "g.10466138G>A" "" "{PMID:Hu 2019:31236346}" "" "c.5470C>T p.Gln1824*" "" "Germline" "?" "" "0" "" "" "g.10608628G>A" "" "likely pathogenic" ""
"0000812344" "3" "70" "8" "10470487" "10470487" "subst" "0" "00000" "RP1L1_000491" "g.10470487C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1L1 Ex.4 c.1121G>A p.(Trp374*), Ex.4 c.1121G>A p.(Trp374*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.10612977C>T" "" "likely pathogenic" ""
"0000812939" "3" "70" "8" "10467657" "10467658" "ins" "0" "00000" "RP1L1_000490" "g.10467657_10467658insAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCT" "" "{PMID:Albarry 2019:31833436}" "" "RP1L1 c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG; p.Ala1319fs" "error in annotation: 48 nuleotides is divisible by 3 and results in an in-frame insertion of 16 nucleotides: p.(Glu1318_Ala1319insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu), homozygous" "Germline" "yes" "" "0" "" "" "g.10610147_10610148insAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCT" "" "likely pathogenic" ""
"0000815280" "0" "50" "8" "10465787" "10465787" "subst" "0.000382005" "00000" "RP1L1_000493" "g.10465787G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1L1:NM_178857 c.C5821T, p.Q1941X" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.10608277G>A" "" "VUS" "ACMG"
"0000815425" "0" "50" "8" "10470527" "10470527" "subst" "0.00067643" "00000" "RP1L1_000495" "g.10470527C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1L1:NM_178857 c.G1081A, p.E361K" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.10613017C>T" "" "VUS" "ACMG"
"0000815482" "0" "50" "8" "10480476" "10480476" "subst" "7.34322E-5" "00000" "RP1L1_000498" "g.10480476C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1L1:NM_178857 c.G236A, p.R79H" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.10622966C>T" "" "VUS" "ACMG"
"0000815560" "0" "50" "8" "10480420" "10480420" "subst" "4.09514E-5" "00000" "RP1L1_000497" "g.10480420C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1L1:NM_178857 c.G292A, p.D98N" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.10622910C>T" "" "VUS" "ACMG"
"0000815577" "0" "50" "8" "10480165" "10480165" "subst" "0" "00000" "RP1L1_000496" "g.10480165C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1L1:NM_178857 c.G547C, p.G183R" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.10622655C>G" "" "VUS" "ACMG"
"0000815578" "0" "50" "8" "10469152" "10469152" "subst" "0" "00000" "RP1L1_000094" "g.10469152C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1L1:NM_178857 c.G2456A, p.G819D" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.10611642C>T" "" "VUS" "ACMG"
"0000815582" "0" "50" "8" "10480257" "10480257" "subst" "0.000338494" "00000" "RP1L1_000445" "g.10480257C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1L1:NM_178857 c.G455A, p.R152Q" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.10622747C>T" "" "VUS" "ACMG"
"0000815616" "0" "50" "8" "10467592" "10467592" "subst" "0" "00000" "RP1L1_000494" "g.10467592T>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1L1:NM_178857 c.A4016T, p.E1339V" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.10610082T>A" "" "VUS" "ACMG"
"0000817615" "0" "90" "8" "10480385" "10480386" "ins" "0.00140369" "00000" "RP1L1_000016" "g.10480385_10480386insA" "" "{PMID:Liu 2017:27029556}" "" "p.Lys111Glnfs*27" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000817616" "0" "90" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Liu 2017:27029556}" "" "p.Q2373*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000817617" "0" "90" "8" "10464491" "10464491" "subst" "4.06108E-6" "00000" "RP1L1_000017" "g.10464491G>A" "" "{PMID:Liu 2017:27029556}" "" "c.7117C>T,p.Gln2373*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000817618" "0" "90" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Liu 2017:27029556}" "" "p.Q2373*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000817684" "0" "70" "8" "10470470" "10470470" "subst" "0.00225143" "00000" "RP1L1_000116" "g.10470470C>T" "" "{PMID:Zanolli 2020:32141364}" "" "RP1L1 c.1138G>A" "no protein change given, heterozygous" "Unknown" "?" "" "0" "" "" "g.10612960C>T" "" "likely pathogenic" ""
"0000818977" "1" "50" "8" "10473955" "10480716" "del" "0" "00000" "RP1L1_000499" "g.(10470857_10473955)_(10480716_?)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr8:10473951–10480716" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000819538" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819539" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819672" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819782" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819916" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W, variant 2: c.133C>T/p.R45W" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819949" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819953" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819954" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819955" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819956" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819957" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819958" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819959" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000819978" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820004" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820005" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820013" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820028" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820029" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820038" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820048" "1" "70" "8" "10468586" "10468586" "subst" "0" "00000" "RP1L1_000501" "g.10468586G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.3022C>T/p.Q1008*, variant 2: c.3022C>T/p.Q1008*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.10611076G>A" "" "likely pathogenic" ""
"0000820049" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820050" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820058" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820192" "1" "70" "8" "10470501" "10470501" "subst" "2.84984E-5" "00000" "RP1L1_000502" "g.10470501C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.1107G>A/p.W369*, variant 2: c.1107G>A/p.W369*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.10612991C>T" "" "likely pathogenic" ""
"0000820241" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820312" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820313" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000820314" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1L1, variant 1: c.133C>T/p.R45W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000821012" "0" "70" "8" "10465304" "10465304" "subst" "0" "00000" "RP1L1_000500" "g.10465304C>A" "1/64" "{PMID:Liu 2020:32562694}" "" "RP1L1 c.6304G>T, p.Glu2102*" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.10607794C>A" "" "likely pathogenic" ""
"0000822169" "0" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Agange-2017:27579568}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000822170" "0" "50" "8" "10468353" "10468353" "subst" "0.00213378" "00000" "RP1L1_000081" "g.10468353G>C" "" "{PMID:Agange-2017:27579568}" "" "c.3255C>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000822370" "0" "70" "8" "10470582" "10470584" "delins" "0" "00000" "RP1L1_000503" "g.10470582_10470584delinsAGGAG" "" "{PMID:Maggi_2021:33546218}" "" "c.1024_1026delinsCTCCT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822376" "0" "70" "8" "10480516" "10480516" "subst" "0" "00000" "RP1L1_000504" "g.10480516C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.196G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822740" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Gliem 2020:32646556}" "" "RP1L1 c.133C>T, p.Arg45Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000822741" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Gliem 2020:32646556}" "" "RP1L1 c.133C>T, p.Arg45Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" ""
"0000822797" "3" "70" "8" "10468581" "10468584" "del" "0" "00000" "RP1L1_000244" "g.10468581_10468584del" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1L1 p.(Ala1009fs)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; homozygous" "Unknown" "?" "" "0" "" "" "g.10611071_10611074del" "" "likely pathogenic" ""
"0000822801" "0" "70" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1L1 p.(Arg658*)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.10612126G>A" "" "likely pathogenic" ""
"0000822807" "3" "70" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1L1 p.(Arg658*)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous" "Unknown" "?" "" "0" "" "" "g.10612126G>A" "" "likely pathogenic" ""
"0000822813" "3" "70" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1L1 p.(Arg658*)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous" "Unknown" "?" "" "0" "" "" "g.10612126G>A" "" "likely pathogenic" ""
"0000822848" "0" "70" "8" "10470107" "10470107" "subst" "0" "00000" "RP1L1_000268" "g.10470107C>A" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1L1 p.(Glu501*)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.10612597C>A" "" "likely pathogenic" ""
"0000824636" "0" "50" "8" "10465545" "10465545" "del" "0.000138135" "00000" "RP1L1_000453" "g.10465545del" "" "{PMID:Ma 2021:33691693}" "" "RP1L1 c.6063delC, p.D2021fs" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.10608035del" "" "VUS" "ACMG"
"0000824638" "3" "50" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Ma 2021:33691693}" "" "RP1L1 c.C1972T, p.R658X" "marked as possibly causative, homozygous" "Unknown" "?" "" "0" "" "" "g.10612126G>A" "" "VUS" "ACMG"
"0000824667" "3" "50" "8" "10469636" "10469636" "subst" "2.03221E-5" "00000" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Ma 2021:33691693}" "" "RP1L1 c.C1972T, p.R658X" "marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.10612126G>A" "" "VUS" "ACMG"
"0000824715" "0" "30" "8" "10469582" "10469582" "subst" "1.21881E-5" "00000" "RP1L1_000260" "g.10469582T>A" "" "{PMID:Ma 2021:33691693}" "" "RP1L1 c.A2026T, p.S676C" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.10612072T>A" "" "likely benign" "ACMG"
"0000825492" "0" "50" "8" "10465982" "10465982" "subst" "0" "00000" "RP1L1_000510" "g.10465982C>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5626G>A, p.A1876T" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608472C>T" "" "VUS" ""
"0000825528" "0" "50" "8" "10468462" "10468462" "subst" "5.0554E-5" "00000" "RP1L1_000513" "g.10468462T>C" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.3146A>G, p.E1049G" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10610952T>C" "" "VUS" ""
"0000825529" "0" "50" "8" "10465967" "10465967" "subst" "0" "00000" "RP1L1_000509" "g.10465967C>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5641G>T, p.G1881*" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608457C>A" "" "VUS" ""
"0000825530" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825531" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825532" "0" "50" "8" "10465214" "10465214" "subst" "0" "00000" "RP1L1_000507" "g.10465214T>C" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.6394A>G, p.I2132V" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10607704T>C" "" "VUS" ""
"0000825533" "0" "50" "8" "10474085" "10474085" "subst" "0.000552201" "00000" "RP1L1_000277" "g.10474085G>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.622C>A, p.Q208K" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10616575G>T" "" "VUS" ""
"0000825534" "0" "50" "8" "10465990" "10465990" "subst" "0.000562399" "00000" "RP1L1_000037" "g.10465990T>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5618A>T, p.D1873V" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608480T>A" "" "VUS" ""
"0000825535" "0" "50" "8" "10467589" "10467589" "subst" "0" "00000" "RP1L1_000158" "g.10467589T>C" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.4019A>G, p.E1340G" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10610079T>C" "" "VUS" ""
"0000825536" "0" "50" "8" "10468555" "10468555" "subst" "0.000203105" "00000" "RP1L1_000243" "g.10468555G>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.3053C>A, p.P1018H" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10611045G>T" "" "VUS" ""
"0000825537" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825538" "0" "50" "8" "10474085" "10474085" "subst" "0.000552201" "00000" "RP1L1_000277" "g.10474085G>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.622C>A, p.Q208K" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10616575G>T" "" "VUS" ""
"0000825539" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825540" "0" "50" "8" "10466771" "10466771" "subst" "0.000185045" "00000" "RP1L1_000226" "g.10466771G>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.4837C>A, p.L1613M" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10609261G>T" "" "VUS" ""
"0000825541" "0" "50" "8" "10465545" "10465545" "del" "0.000138135" "00000" "RP1L1_000453" "g.10465545del" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.6063delC, p.D2021Efs*1" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608035del" "" "VUS" ""
"0000825542" "0" "50" "8" "10466476" "10466476" "subst" "0.000479663" "00000" "RP1L1_000223" "g.10466476C>G" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5132G>C, p.G1711A" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608966C>G" "" "VUS" ""
"0000825543" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825544" "0" "50" "8" "10467589" "10467589" "subst" "0" "00000" "RP1L1_000158" "g.10467589T>C" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.4019A>G, p.E1340G" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10610079T>C" "" "VUS" ""
"0000825545" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825546" "0" "50" "8" "10467754" "10467754" "subst" "0.000150334" "00000" "RP1L1_000334" "g.10467754G>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.3854C>T, p.A1285V" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10610244G>A" "" "VUS" ""
"0000825547" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825548" "0" "50" "8" "10465177" "10465177" "subst" "0.000280221" "00000" "RP1L1_000505" "g.10465177T>G" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.6431A>C, p.E2144A" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10607667T>G" "" "VUS" ""
"0000825549" "0" "50" "8" "10470053" "10470053" "subst" "0.000230991" "00000" "RP1L1_000108" "g.10470053C>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.1555G>A, p.G519S" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10612543C>T" "" "VUS" ""
"0000825550" "0" "50" "8" "10480645" "10480645" "subst" "4.25474E-6" "00000" "RP1L1_000517" "g.10480645G>C" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.67C>G, p.R23G" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10623135G>C" "" "VUS" ""
"0000825551" "0" "50" "8" "10467589" "10467589" "subst" "0" "00000" "RP1L1_000158" "g.10467589T>C" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.4019A>G, p.E1340G" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10610079T>C" "" "VUS" ""
"0000825552" "0" "50" "8" "10465183" "10465183" "subst" "3.65509E-5" "00000" "RP1L1_000506" "g.10465183T>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.6425A>T, p.Q2142L" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10607673T>A" "" "VUS" ""
"0000825553" "0" "50" "8" "10480423" "10480423" "subst" "0.000274298" "00000" "RP1L1_000286" "g.10480423C>G" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.289G>C, p.E97Q" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622913C>G" "" "VUS" ""
"0000825554" "0" "50" "8" "10468555" "10468555" "subst" "0.000203105" "00000" "RP1L1_000243" "g.10468555G>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.3053C>A, p.P1018H" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10611045G>T" "" "VUS" ""
"0000825555" "0" "50" "8" "10466024" "10466024" "subst" "4.0705E-5" "00000" "RP1L1_000511" "g.10466024C>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5584G>A, p.E1862K" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608514C>T" "" "VUS" ""
"0000825556" "0" "50" "8" "10470103" "10470103" "subst" "1.28758E-5" "00000" "RP1L1_000514" "g.10470103T>G" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.1505A>C, p.D502A" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10612593T>G" "" "VUS" ""
"0000825557" "0" "50" "8" "10480680" "10480680" "subst" "0.000766342" "00000" "RP1L1_000291" "g.10480680G>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.32C>T, p.P11L" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10623170G>A" "" "VUS" ""
"0000825558" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825559" "0" "50" "8" "10480174" "10480174" "subst" "3.6558E-5" "00000" "RP1L1_000516" "g.10480174C>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.538G>A, p.A180T" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622664C>T" "" "VUS" ""
"0000825560" "0" "50" "8" "10468555" "10468555" "subst" "0.000203105" "00000" "RP1L1_000243" "g.10468555G>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.3053C>A, p.P1018H" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10611045G>T" "" "VUS" ""
"0000825561" "0" "50" "8" "10468555" "10468555" "subst" "0.000203105" "00000" "RP1L1_000243" "g.10468555G>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.3053C>A, p.P1018H" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10611045G>T" "" "VUS" ""
"0000825562" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825563" "0" "50" "8" "10480299" "10480299" "dup" "0" "00000" "RP1L1_000380" "g.10480299dup" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.413dupC, p.A138Afs*10" "error in annotation, c.416dup causes p.Gly140Argfs*10 and not p.Ala138Alafs*10; no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10622789dup" "" "VUS" ""
"0000825564" "0" "50" "8" "10467589" "10467589" "subst" "0" "00000" "RP1L1_000158" "g.10467589T>C" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.4019A>G, p.E1340G" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10610079T>C" "" "VUS" ""
"0000825574" "0" "50" "8" "10465967" "10465967" "subst" "0" "00000" "RP1L1_000509" "g.10465967C>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5648C>T, p.A1883V" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608457C>A" "" "VUS" ""
"0000825575" "0" "50" "8" "10465960" "10465960" "subst" "8.14127E-6" "00000" "RP1L1_000509" "g.10465960G>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5641G>T, p.G1881*" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608450G>A" "" "VUS" ""
"0000825576" "0" "50" "8" "10474037" "10474037" "subst" "0.00018687" "00000" "RP1L1_000128" "g.10474037C>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.670G>A, p.A224T" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10616527C>T" "" "VUS" ""
"0000825577" "0" "50" "8" "10465177" "10465177" "subst" "0.000280221" "00000" "RP1L1_000505" "g.10465177T>G" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.6431A>C, p.E2144A" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10607667T>G" "" "VUS" ""
"0000825583" "0" "50" "8" "10465373" "10465373" "subst" "4.87733E-5" "00000" "RP1L1_000508" "g.10465373G>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.6235C>T, p.H2079Y" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10607863G>A" "" "VUS" ""
"0000825584" "0" "50" "8" "10465960" "10465960" "subst" "8.14127E-6" "00000" "RP1L1_000509" "g.10465960G>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5648C>T, p.A1883V" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608450G>A" "" "VUS" ""
"0000825585" "0" "50" "8" "10468177" "10468177" "subst" "0.000142169" "00000" "RP1L1_000512" "g.10468177G>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.3431C>T, p.S1144F" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10610667G>A" "" "VUS" ""
"0000825586" "0" "50" "8" "10467335" "10467335" "subst" "0.00040619" "00000" "RP1L1_000231" "g.10467335C>G" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.4273G>C, p.D1425H" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10609825C>G" "" "VUS" ""
"0000825587" "0" "50" "8" "10465204" "10465204" "subst" "0" "00000" "RP1L1_000027" "g.10465204G>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.6409G>A, p.A2137T" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10607694G>T" "" "VUS" ""
"0000825588" "0" "50" "8" "10465199" "10465199" "subst" "4.06131E-6" "00000" "RP1L1_000027" "g.10465199C>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.6404C>A, p.P2135Q" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10607689C>T" "" "VUS" ""
"0000825589" "0" "50" "8" "10470131" "10470131" "subst" "2.1518E-5" "00000" "RP1L1_000515" "g.10470131G>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.1477C>T, p.R493W" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10612621G>A" "" "VUS" ""
"0000825590" "0" "50" "8" "10465982" "10465982" "subst" "0" "00000" "RP1L1_000510" "g.10465982C>T" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5626G>A, p.A1876T" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608472C>T" "" "VUS" ""
"0000825591" "0" "50" "8" "10465967" "10465967" "subst" "0" "00000" "RP1L1_000509" "g.10465967C>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5648C>T, p.A1883V" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608457C>A" "" "VUS" ""
"0000825592" "0" "50" "8" "10465960" "10465960" "subst" "8.14127E-6" "00000" "RP1L1_000509" "g.10465960G>A" "" "{PMID:Ng 2021:33846575}" "" "RP1L1 c.5641G>T, p.G1881*" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.10608450G>A" "" "VUS" ""
"0000827185" "0" "90" "8" "10470501" "10470501" "subst" "2.84984E-5" "00000" "RP1L1_000502" "g.10470501C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.1107G>A" "" "Germline" "" "rs567106336" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000828746" "1" "70" "8" "10480229" "10480229" "del" "0" "00000" "RP1L1_000519" "g.10480229del" "" "{PMID:Chen 2021:43360855}" "" "RP1L1 c.[121C>T];[485del], V1: c.485delC, (p.Pro162LeufsTer32)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.10622719del" "" "likely pathogenic" "ACMG"
"0000828839" "0" "50" "8" "10470860" "10470860" "subst" "5.1596E-5" "00000" "RP1L1_000518" "g.10470860G>A" "" "{PMID:Chen 2021:43360855}" "" "RP1L1 c.[752-4C>T];[752-4=], V1: c.752-4C>T," "heterozygous" "Unknown" "?" "" "0" "" "" "g.10613350G>A" "" "VUS" "ACMG"
"0000828850" "0" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Chen 2021:43360855}" "" "RP1L1 c.[133C>T];[133=], V1: c.133C>T, (p.Arg45Trp)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "VUS" "ACMG"
"0000828865" "0" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Chen 2021:43360855}" "" "RP1L1 c.[133C>T];[133=], V1: c.133C>T, (p.Arg45Trp)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "VUS" "ACMG"
"0000828893" "0" "70" "8" "10480386" "10480387" "ins" "0" "00000" "RP1L1_000520" "g.10480386_10480387insA" "" "{PMID:Chen 2021:43360855}" "" "RP1L1 c.[325_326insT];[?], V1: c.325_326insT, (p.Pro109LeufsTer29)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.10622876_10622877insA" "" "likely pathogenic" "ACMG"
"0000828904" "0" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Chen 2021:43360855}" "" "RP1L1 c.[133C>T];[133=], V1: c.133C>T, (p.Arg45Trp)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.10623069G>A" "" "VUS" "ACMG"
"0000828951" "2" "90" "8" "10480591" "10480591" "subst" "0.000189378" "00000" "RP1L1_000521" "g.10480591G>A" "" "{PMID:Chen 2021:43360855}" "" "RP1L1 c.[121C>T];[485del], V2: c.121C>T, (p.Arg41Ter)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.10623081G>A" "" "pathogenic" "ACMG"
"0000829831" "3" "90" "8" "10468579" "10468582" "del" "0" "00000" "RP1L1_000244" "g.10468579_10468582del" "" "{PMID:Numa-2020:33247286}" "" "c.3026_3029del:p.1009_1010del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000829904" "3" "90" "8" "10480387" "10480388" "ins" "0.00199136" "00000" "RP1L1_000285" "g.10480387_10480388insA" "" "{PMID:Numa-2020:33247286}" "" "c.324_325insT:p.P109fs" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000841307" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "01164" "RP1L1_000006" "g.10480579G>A" "" "PMID: 20826268, 30025130," "" "" "ACMG: PS4, PM2_SUP, PP1, PP3" "Germline" "?" "" "" "" "" "" "VCV000002193.23" "likely pathogenic (dominant)" "ACMG"
"0000846903" "21" "50" "8" "10480385" "10480386" "ins" "0.00140369" "00000" "RP1L1_000016" "g.10480385_10480386insA" "gnomAD 0.89% in Finnish, not in HGMD" "{PMID:Avela 2019:31087526}" "" "RP1L1 c.326_327insT," "no protein annotation; heterozygous, present in unaffected mother" "Germline" "yes" "" "0" "" "" "g.10622875_10622876insA" "" "VUS" ""
"0000851756" "0" "30" "8" "10466994" "10466994" "subst" "1.65161E-5" "01943" "RP1L1_000523" "g.10466994C>T" "" "" "" "RP1L1(NM_178857.5):c.4614G>A (p.V1538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851757" "0" "30" "8" "10467604" "10467651" "dup" "0" "02330" "RP1L1_000526" "g.10467604_10467651dup" "" "" "" "RP1L1(NM_178857.6):c.3979_4026dup (p.T1327_K1342dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851758" "0" "30" "8" "10467898" "10467898" "subst" "8.12374E-6" "01943" "RP1L1_000527" "g.10467898T>C" "" "" "" "RP1L1(NM_178857.5):c.3710A>G (p.Q1237R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851759" "0" "10" "8" "10470288" "10470288" "subst" "0.00355688" "02330" "RP1L1_000112" "g.10470288G>A" "" "" "" "RP1L1(NM_178857.5):c.1320C>T (p.H440=), RP1L1(NM_178857.6):c.1320C>T (p.H440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000851760" "0" "30" "8" "10470309" "10470309" "subst" "4.1457E-6" "01943" "RP1L1_000530" "g.10470309G>A" "" "" "" "RP1L1(NM_178857.5):c.1299C>T (p.R433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851761" "0" "30" "8" "10474106" "10474106" "subst" "0" "01943" "RP1L1_000533" "g.10474106G>A" "" "" "" "RP1L1(NM_178857.5):c.610-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851763" "0" "10" "8" "10480299" "10480299" "dup" "0" "02327" "RP1L1_000380" "g.10480299dup" "" "" "" "RP1L1(NM_178857.6):c.416dupC (p.G140Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000851764" "0" "50" "8" "10480315" "10480315" "subst" "9.43729E-5" "01943" "RP1L1_000534" "g.10480315C>T" "" "" "" "RP1L1(NM_178857.5):c.397G>A (p.E133K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000851765" "0" "50" "8" "10480383" "10480383" "subst" "0.000115724" "01943" "RP1L1_000001" "g.10480383G>A" "" "" "" "RP1L1(NM_178857.5):c.329C>T (p.P110L, p.(Pro110Leu)), RP1L1(NM_178857.6):c.329C>T (p.P110L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000851766" "0" "30" "8" "10480499" "10480499" "subst" "0.000281794" "01943" "RP1L1_000385" "g.10480499G>A" "" "" "" "RP1L1(NM_178857.5):c.213C>T (p.R71=), RP1L1(NM_178857.6):c.213C>T (p.R71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861002" "0" "30" "8" "10466979" "10466979" "subst" "4.95413E-5" "01943" "RP1L1_000522" "g.10466979T>C" "" "" "" "RP1L1(NM_178857.5):c.4629A>G (p.A1543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861003" "0" "30" "8" "10467086" "10467086" "subst" "8.40583E-6" "01943" "RP1L1_000524" "g.10467086A>T" "" "" "" "RP1L1(NM_178857.5):c.4522T>A (p.C1508S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861004" "0" "30" "8" "10467360" "10467360" "subst" "0.000162455" "01943" "RP1L1_000525" "g.10467360C>T" "" "" "" "RP1L1(NM_178857.5):c.4248G>A (p.P1416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861005" "0" "30" "8" "10468631" "10468631" "subst" "0.000524451" "02330" "RP1L1_000528" "g.10468631C>T" "" "" "" "RP1L1(NM_178857.6):c.2977G>A (p.D993N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861006" "0" "30" "8" "10468976" "10468976" "subst" "6.35574E-5" "01943" "RP1L1_000529" "g.10468976G>C" "" "" "" "RP1L1(NM_178857.5):c.2632C>G (p.Q878E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861007" "0" "50" "8" "10470310" "10470310" "subst" "2.07386E-5" "02330" "RP1L1_000531" "g.10470310C>T" "" "" "" "RP1L1(NM_178857.6):c.1298G>A (p.R433H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000861008" "0" "50" "8" "10470310" "10470310" "subst" "2.07386E-5" "02327" "RP1L1_000531" "g.10470310C>T" "" "" "" "RP1L1(NM_178857.6):c.1298G>A (p.R433H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000861009" "0" "30" "8" "10470470" "10470470" "subst" "0.00225143" "02330" "RP1L1_000116" "g.10470470C>T" "" "" "" "RP1L1(NM_178857.5):c.1138G>A (p.G380R), RP1L1(NM_178857.6):c.1138G>A (p.G380R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861010" "0" "50" "8" "10470815" "10470815" "subst" "1.70528E-5" "01943" "RP1L1_000532" "g.10470815G>A" "" "" "" "RP1L1(NM_178857.5):c.793C>T (p.R265W, p.(Arg265Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000870364" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}, {PMID:Kato 2017:29196766}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870365" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870366" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870367" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870368" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870369" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870370" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870371" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870372" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870373" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870374" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870375" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870376" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870377" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Tsunoda 2012:22466457}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870378" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hayashi 2012:22504327}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870379" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hayashi 2012:22504327}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870380" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "0/300 control alleles" "{PMID:Kabuto 2012:22605915}" "" "c.3596C>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870381" "0" "10" "8" "10469030" "10469030" "subst" "0.177597" "00000" "RP1L1_000160" "g.10469030G>A" "" "{PMID:Kabuto 2012:22605915}" "" "c.2578C>T" "" "Unknown" "" "" "0" "" "" "" "" "benign" ""
"0000870382" "0" "10" "8" "10467124" "10467124" "subst" "0.298014" "00000" "RP1L1_000049" "g.10467124G>C" "" "{PMID:Kabuto 2012:22605915}" "" "c.4484C>G" "" "Unknown" "" "" "0" "" "" "" "" "benign" ""
"0000870383" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Okuno 2013:23619761}" "" "Arg45Trp" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870384" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ahn 2013:23745001}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870385" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ahn 2013:23745001}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870386" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ahn 2013:23745001}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870387" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ahn 2013:23745001}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870388" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ahn 2013:23745001}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870389" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ahn 2013:23745001}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870390" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ahn 2013:23745001}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870391" "0" "70" "8" "10464676" "10464676" "subst" "1.62447E-5" "00000" "RP1L1_000199" "g.10464676T>G" "" "{PMID:Ahn 2013:23745001}" "" "c.6932A>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870392" "0" "30" "8" "10469582" "10469582" "subst" "1.21881E-5" "00000" "RP1L1_000260" "g.10469582T>A" "" "{PMID:Ahn 2013:23745001}" "" "c.2026A>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000870393" "0" "70" "8" "10467335" "10467335" "subst" "0.00040619" "00000" "RP1L1_000231" "g.10467335C>G" "" "{PMID:Ahn 2013:23745001}" "" "c.4273G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870394" "0" "70" "8" "10468013" "10468013" "subst" "0" "00000" "RP1L1_000536" "g.10468013A>G" "" "{PMID:Takahashi 2014:24838559}" "" "c.3595T>C (p.S1199P)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870395" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ziccardi 2015:25908487}" "" "c.133C>T:(p.Arg45Trp)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000870396" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakanishi 2015:26544792}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870397" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakanishi 2015:26544792}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870398" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakanishi 2015:26544792}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870399" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Piermarocchi 2016:26782618}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870400" "10" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Piermarocchi 2016:26782618}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870401" "10" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Piermarocchi 2016:26782618}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870402" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fu 2019:28195981}" "" "p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870403" "0" "50" "8" "10480495" "10480495" "subst" "0.00162482" "00000" "RP1L1_000538" "g.10480495G>A" "" "{PMID:Saffra 2017:28473427}" "" "p.P73S:c 217C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000870404" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Kato 2017:29196766}" "" "p.R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870405" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Kato 2017:29196766}" "" "p.R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870406" "0" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000455" "g.10468009C>T" "" "{PMID:Kato 2017:29196766}" "" "p.G1200D" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870407" "0" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000455" "g.10468009C>T" "" "{PMID:Kato 2017:29196766}" "" "p.G1200D" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870408" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Kato 2017:29196766}" "" "p.S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870409" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Kato 2017:29196766}" "" "p.S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870410" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870411" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870412" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870413" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870414" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870415" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870416" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870417" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870418" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870419" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870420" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870421" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870422" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870423" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870424" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870425" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870426" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870427" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870428" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870429" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870430" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870431" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870432" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870433" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.133C>T, p.Arg45Trp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870434" "0" "90" "8" "10468027" "10468027" "subst" "5.68856E-5" "00000" "RP1L1_000459" "g.10468027G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.3581C>T, p.Thr1194Met/ c.3587C>T, p.Thr1196Ile (complex)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870435" "0" "90" "8" "10468021" "10468021" "subst" "4.06329E-6" "00000" "RP1L1_000458" "g.10468021G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.3581C>T, p.Thr1194Met/ c.3587C>T, p.Thr1196Ile (complex)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870436" "0" "90" "8" "10468015" "10468015" "subst" "0" "00000" "RP1L1_000537" "g.10468015G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.3593C>T, p.Ser1198Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870437" "0" "90" "8" "10468015" "10468015" "subst" "0" "00000" "RP1L1_000537" "g.10468015G>A" "" "{PMID:Fujinami 2019:31028767}" "" "c.3593C>T, p.Ser1198Phe" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870438" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3596C>G, p.Ser1199Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870439" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3596C>G, p.Ser1199Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870440" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3596C>G, p.Ser1199Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870441" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3596C>G, p.Ser1199Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870442" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3596C>G, p.Ser1199Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870443" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3596C>G, p.Ser1199Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870444" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3596C>G, p.Ser1199Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870445" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3596C>G, p.Ser1199Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870446" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3596C>G, p.Ser1199Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870447" "0" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000455" "g.10468009C>T" "" "{PMID:Fujinami 2019:31028767}" "" "c.3599G>A, p.Gly1200Asp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870448" "0" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000455" "g.10468009C>T" "" "{PMID:Fujinami 2019:31028767}" "" "c.3599G>A, p.Gly1200Asp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870449" "0" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000005" "g.10468009C>G" "" "{PMID:Fujinami 2019:31028767}" "" "c.3599G>A, p.Gly1200Ala" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870450" "0" "90" "8" "10468006" "10468006" "subst" "0" "00000" "RP1L1_000454" "g.10468006A>C" "" "{PMID:Fujinami 2019:31028767}" "" "c.3602T>G, p.Val1201Gly" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870451" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ruan 2019:31193770}" "" "p.Arg45Trp" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870452" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Ruan 2019:31193770}" "" "p.Arg45Trp" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870453" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870454" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870455" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870456" "0" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000455" "g.10468009C>T" "" "{PMID:Nakamura 2019:31725168}" "" "G1200D" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870457" "0" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000005" "g.10468009C>G" "" "{PMID:Nakamura 2019:31725168}" "" "G1200A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870458" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870459" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870460" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870461" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870462" "0" "90" "8" "10468027" "10468027" "subst" "5.68856E-5" "00000" "RP1L1_000459" "g.10468027G>A" "" "{PMID:Nakamura 2019:31725168}" "" "T1194M / T1196I" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870463" "0" "90" "8" "10468021" "10468021" "subst" "4.06329E-6" "00000" "RP1L1_000458" "g.10468021G>A" "" "{PMID:Nakamura 2019:31725168}" "" "T1194M / T1196I" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870464" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870465" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870466" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870467" "0" "90" "8" "10468006" "10468006" "subst" "0" "00000" "RP1L1_000454" "g.10468006A>C" "" "{PMID:Nakamura 2019:31725168}" "" "V1201G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870468" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870469" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870470" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870471" "0" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000455" "g.10468009C>T" "" "{PMID:Nakamura 2019:31725168}" "" "G1200D" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870472" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870473" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870474" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870475" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870476" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870477" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870478" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870479" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870480" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870481" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870482" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870483" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870484" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870485" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870486" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870487" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870488" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870489" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870490" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870491" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870492" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870493" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870494" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870495" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870496" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870497" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870498" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870499" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870500" "0" "90" "8" "10468009" "10468009" "subst" "0" "00000" "RP1L1_000456" "g.10468009C>A" "" "{PMID:Nakamura 2019:31725168}" "" "G1200V" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870501" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870502" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870503" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870504" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870505" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870506" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870507" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870508" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870509" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870510" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870511" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870512" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870513" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Nakamura 2019:31725168}" "" "R45W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870514" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Nakamura 2019:31725168}" "" "S1199C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870515" "0" "70" "8" "10466084" "10466084" "subst" "0" "00000" "RP1L1_000535" "g.10466084C>G" "" "{PMID:Fu 2019:31850186}" "" "c.5524G>C (p.G1842R)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870516" "0" "70" "8" "10468759" "10468759" "subst" "0.000273836" "00000" "RP1L1_000004" "g.10468759C>T" "" "{PMID:Fu 2019:31850186}" "" "c.2849G>A (p.Arg2849His)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870517" "0" "70" "8" "10480387" "10480388" "ins" "0.00199136" "00000" "RP1L1_000285" "g.10480387_10480388insA" "" "{PMID:Fu 2019:31850186}" "" "c.324_325insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870518" "0" "70" "8" "10466084" "10466084" "subst" "0" "00000" "RP1L1_000535" "g.10466084C>G" "" "{PMID:Fu 2019:31850186}" "" "c.5524G>C (p.G1842R)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870519" "0" "70" "8" "10468759" "10468759" "subst" "0.000273836" "00000" "RP1L1_000004" "g.10468759C>T" "" "{PMID:Fu 2019:31850186}" "" "c.2849G>A (p.Arg2849His)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870520" "0" "70" "8" "10480387" "10480388" "ins" "0.00199136" "00000" "RP1L1_000285" "g.10480387_10480388insA" "" "{PMID:Fu 2019:31850186}" "" "c.324_325insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000870521" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Wang 2020:32176261}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870522" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Wang 2020:32176261}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870523" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Wang 2020:32176261}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870524" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Wang 2020:32176261}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870525" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Wang 2020:32176261}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870526" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Wang 2020:32176261}" "" "c.133C>T" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870527" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Wang 2020:32176261}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870528" "0" "90" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Wang 2020:32176261}" "" "c.133C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870529" "0" "90" "8" "10468012" "10468012" "subst" "0" "00000" "RP1L1_000457" "g.10468012G>C" "" "{PMID:Wang 2020:32176261}" "" "c.3596C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000870530" "0" "90" "8" "10468015" "10468015" "subst" "0" "00000" "RP1L1_000537" "g.10468015G>A" "" "{PMID:Hiraoka 2020:32940107}" "" "c.3593C>T,p.Ser1198Phe" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000870531" "0" "90" "8" "10468015" "10468015" "subst" "0" "00000" "RP1L1_000537" "g.10468015G>A" "" "{PMID:Hiraoka 2020:32940107}" "" "c.3593C>T,p.Ser1198Phe" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000873542" "0" "70" "8" "10480680" "10480680" "subst" "0.000766342" "00000" "RP1L1_000291" "g.10480680G>A" "172" "{PMID:Sun 2018:30076350}" "" "RP1L1(NM_178857.5):c.32C>T(p.P11L)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.10623170G>A" "" "likely pathogenic" ""
"0000877234" "0" "50" "8" "10469243" "10469243" "subst" "0" "00006" "RP1L1_000539" "g.10469243C>A" "" "{PMID:Monroe 2016:26845106}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" ""
"0000881446" "1" "50" "8" "10468728" "10468728" "subst" "0" "04405" "RP1L1_000540" "g.10468728C>G" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.10611218C>G" "" "VUS" "ACMG"
"0000881463" "2" "50" "8" "10467966" "10467966" "subst" "8.13134E-6" "04405" "RP1L1_000478" "g.10467966G>T" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.10610456G>T" "" "VUS" "ACMG"
"0000881802" "1" "70" "8" "10465331" "10466013" "del" "0" "00006" "RP1L1_000541" "g.10465331_10466013del" "" "{PMID:Sano 2022:35710107}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.10607821_10608503del" "" "likely pathogenic" ""
"0000888101" "0" "70" "8" "10465088" "10465088" "subst" "1.6248E-5" "02327" "RP1L1_000542" "g.10465088G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000888102" "0" "30" "8" "10465815" "10465815" "subst" "0.000203184" "02330" "RP1L1_000036" "g.10465815G>A" "" "" "" "RP1L1(NM_178857.5):c.5793C>T (p.D1931=), RP1L1(NM_178857.6):c.5793C>T (p.D1931=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888103" "0" "10" "8" "10465990" "10466058" "del" "0" "02330" "RP1L1_000303" "g.10465990_10466058del" "" "" "" "RP1L1(NM_178857.5):c.5574_5642del (p.D1859_G1881del), RP1L1(NM_178857.6):c.5574_5642del (p.D1859_G1881del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000888104" "0" "30" "8" "10466592" "10466592" "subst" "4.47002E-5" "02327" "RP1L1_000543" "g.10466592G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888105" "0" "30" "8" "10466595" "10466595" "subst" "0" "02330" "RP1L1_000544" "g.10466595G>A" "" "" "" "RP1L1(NM_178857.6):c.5013C>T (p.S1671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888106" "0" "10" "8" "10466655" "10466655" "subst" "0.00402358" "02327" "RP1L1_000545" "g.10466655C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000888107" "0" "30" "8" "10466919" "10466919" "subst" "5.39294E-5" "02330" "RP1L1_000546" "g.10466919G>A" "" "" "" "RP1L1(NM_178857.6):c.4689C>T (p.D1563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888108" "0" "30" "8" "10467122" "10467122" "subst" "3.75855E-5" "02330" "RP1L1_000048" "g.10467122T>G" "" "" "" "RP1L1(NM_178857.5):c.4486A>C (p.T1496P), RP1L1(NM_178857.6):c.4486A>C (p.T1496P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888109" "0" "30" "8" "10467651" "10467652" "ins" "0.000470496" "02330" "RP1L1_000327" "g.10467651_10467652insCCCTCTTCTT" "" "" "" "RP1L1(NM_178857.5):c.3956_3957insAAGAAGAGGG (p.V1320Rfs*10), RP1L1(NM_178857.6):c.3956_3957insAAGAAGAGGG (p.V1320Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888110" "0" "10" "8" "10467653" "10467653" "subst" "0.0150801" "02330" "RP1L1_000073" "g.10467653C>T" "" "" "" "RP1L1(NM_178857.5):c.3955G>A (p.A1319T), RP1L1(NM_178857.6):c.3955G>A (p.A1319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000888111" "0" "50" "8" "10467703" "10467703" "subst" "0" "02327" "RP1L1_000547" "g.10467703T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000888112" "0" "30" "8" "10470573" "10470573" "subst" "0.000167281" "02330" "RP1L1_000549" "g.10470573C>T" "" "" "" "RP1L1(NM_178857.6):c.1035G>A (p.R345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888113" "0" "10" "8" "10480211" "10480211" "subst" "0.0267649" "02327" "RP1L1_000550" "g.10480211T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000896441" "1" "50" "8" "10470860" "10470860" "subst" "5.1596E-5" "00000" "RP1L1_000518" "g.10470860G>A" "Taiwan Biobank: 0.000331; GnomAD_exome_East: 0.000734; GnomAD_All: 0.0000553" "{PMID:Chen 2021:33608557}" "" "RP1L1 c.[752-4C>T];[752-4=]; p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10613350G>A" "" "VUS" ""
"0000896453" "1" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.0000557; GnomAD_All: 0.0000203" "{PMID:Chen 2021:33608557}" "" "RP1L1 c.[133C>T];[133=]; p.(Arg45Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000896521" "0" "70" "8" "10480386" "10480387" "ins" "0" "00000" "RP1L1_000520" "g.10480386_10480387insA" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RP1L1 c.[325_326insT];[?]; p.(Pro109LeufsTer29)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.10622876_10622877insA" "" "likely pathogenic" ""
"0000896578" "1" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.0000557; GnomAD_All: 0.0000203" "{PMID:Chen 2021:33608557}" "" "RP1L1 c.[133C>T];[133=]; p.(Arg45Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000896581" "1" "70" "8" "10480229" "10480229" "del" "0" "00000" "RP1L1_000519" "g.10480229del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RP1L1 c.[121C>T];[485del]; p.(Pro162LeufsTer32)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10622719del" "" "likely pathogenic" ""
"0000896582" "2" "90" "8" "10480591" "10480591" "subst" "0.000189378" "00000" "RP1L1_000521" "g.10480591G>A" "Taiwan Biobank: 0.00066; GnomAD_exome_East: 0.00078; GnomAD_All: 0.000191" "{PMID:Chen 2021:33608557}" "" "RP1L1 c.[121C>T];[485del]; p.(Arg41Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10623081G>A" "" "pathogenic" ""
"0000896600" "1" "50" "8" "10480579" "10480579" "subst" "1.64417E-5" "00000" "RP1L1_000006" "g.10480579G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.0000557; GnomAD_All: 0.0000203" "{PMID:Chen 2021:33608557}" "" "RP1L1 c.[133C>T];[133=]; p.(Arg45Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10623069G>A" "" "VUS" ""
"0000896745" "3" "70" "8" "10468195" "10468196" "del" "0" "00000" "RP1L1_000548" "g.10468195_10468196del" "" "{PMID:Manayath 2022:34965838}" "" "RP1L1 chr8: g.10468194_10468195del; (p.Lys1138SerfsTer24; ENST00000382483.3)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10610685_10610686del" "" "likely pathogenic" ""
"0000905971" "0" "50" "8" "10470817" "10470817" "subst" "1.27977E-5" "00000" "RP1L1_000551" "g.10470817G>A" "" "{PMID:Zhu 2022:35456422}" "" "RP1L1 c.791C>T, p.(Ser264Leu)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.10613307G>A" "" "VUS" "ACMG"
"0000912856" "0" "10" "8" "10464796" "10464796" "subst" "0.00325026" "02327" "RP1L1_000021" "g.10464796G>C" "" "" "" "RP1L1(NM_178857.5):c.6812C>G (p.P2271R), RP1L1(NM_178857.6):c.6812C>G (p.P2271R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000912857" "0" "30" "8" "10466776" "10466776" "subst" "3.37299E-5" "02330" "RP1L1_000554" "g.10466776C>T" "" "" "" "RP1L1(NM_178857.6):c.4832G>A (p.R1611Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000912858" "0" "10" "8" "10467168" "10467168" "subst" "0.0102002" "02327" "RP1L1_000555" "g.10467168C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000912859" "0" "30" "8" "10467503" "10467503" "subst" "0.00143002" "02330" "RP1L1_000056" "g.10467503C>T" "" "" "" "RP1L1(NM_178857.5):c.4105G>A (p.E1369K), RP1L1(NM_178857.6):c.4105G>A (p.E1369K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000912860" "0" "10" "8" "10467647" "10467647" "subst" "0" "02327" "RP1L1_000556" "g.10467647G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000912861" "0" "50" "8" "10467967" "10467967" "subst" "4.06567E-6" "02327" "RP1L1_000557" "g.10467967C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000912862" "0" "10" "8" "10468709" "10468709" "subst" "0.00135109" "02327" "RP1L1_000346" "g.10468709C>T" "" "" "" "RP1L1(NM_178857.5):c.2899G>A (p.E967K), RP1L1(NM_178857.6):c.2899G>A (p.E967K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000912863" "0" "30" "8" "10469327" "10469327" "subst" "4.06755E-5" "02327" "RP1L1_000558" "g.10469327C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000912864" "0" "10" "8" "10470130" "10470130" "subst" "0.00482984" "02327" "RP1L1_000559" "g.10470130C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000912865" "0" "30" "8" "10470527" "10470527" "subst" "0.00067643" "02330" "RP1L1_000495" "g.10470527C>T" "" "" "" "RP1L1(NM_178857.6):c.1081G>A (p.E361K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000915816" "3" "90" "8" "10480382" "10480382" "dup" "3.72005E-5" "04436" "RP1L1_000562" "g.10480382dup" "" "{PMID:Panneman 2023:36819107}" "" "c.330dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915903" "3" "90" "8" "10469636" "10469636" "subst" "2.03221E-5" "04436" "RP1L1_000262" "g.10469636G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1972C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916003" "1" "50" "8" "10466018" "10466078" "del" "0" "04436" "RP1L1_000553" "g.10466018_10466078del" "" "{PMID:Panneman 2023:36819107}" "" "c.5530_5590del" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000916004" "2" "90" "8" "10465649" "10465649" "subst" "0.00161808" "04436" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.5959C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916196" "1" "70" "8" "0" "0" "" "0" "04436" "RP1_000000" "g.?" "" "{PMID:Panneman 2023:36819107}" "" "c.(609+1_610-1)_(751+1_752-1)del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916197" "2" "70" "8" "10473956" "10474097" "del" "0" "04436" "RP1L1_000560" "g.10473956_10474097del" "" "{PMID:Panneman 2023:36819107}" "" "c.610_751del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916372" "1" "50" "8" "10469534" "10469534" "subst" "5.28236E-5" "04436" "RP1L1_000099" "g.10469534G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2074C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000916373" "2" "70" "8" "10465712" "10465748" "del" "0" "04436" "RP1L1_000552" "g.10465712_10465748del" "" "{PMID:Panneman 2023:36819107}" "" "c.5860_5896del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916395" "3" "50" "8" "10480111" "10480111" "subst" "0.000167138" "04436" "RP1L1_000561" "g.10480111C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.601G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000917289" "3" "50" "8" "10480518" "10480518" "subst" "0.000114489" "04333" "RP1L1_000144" "g.10480518A>G" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Unknown" "" "" "0" "" "" "g.10623008A>G" "" "VUS" "ACMG"
"0000924807" "0" "30" "8" "10467126" "10467126" "subst" "0.00307404" "02330" "RP1L1_000050" "g.10467126T>C" "" "" "" "RP1L1(NM_178857.5):c.4482A>G (p.Q1494=), RP1L1(NM_178857.6):c.4482A>G (p.Q1494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000924808" "0" "30" "8" "10469559" "10469559" "subst" "0.00296971" "02330" "RP1L1_000100" "g.10469559G>A" "" "" "" "RP1L1(NM_178857.5):c.2049C>T (p.T683=), RP1L1(NM_178857.6):c.2049C>T (p.T683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000924809" "0" "30" "8" "10470456" "10470456" "subst" "2.0393E-5" "02330" "RP1L1_000563" "g.10470456G>C" "" "" "" "RP1L1(NM_178857.6):c.1152C>G (p.P384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929407" "0" "30" "8" "10480118" "10480118" "subst" "0.000126255" "02330" "RP1L1_000564" "g.10480118C>T" "" "" "" "RP1L1(NM_178857.6):c.594G>A (p.T198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948993" "0" "50" "8" "10465522" "10465522" "subst" "0" "02327" "RP1L1_000565" "g.10465522G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948994" "0" "30" "8" "10465990" "10465990" "subst" "0.000562399" "02330" "RP1L1_000037" "g.10465990T>A" "" "" "" "RP1L1(NM_178857.5):c.5618A>T (p.D1873V), RP1L1(NM_178857.6):c.5618A>T (p.D1873V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948995" "0" "30" "8" "10466470" "10466470" "subst" "0.000312937" "02330" "RP1L1_000040" "g.10466470G>T" "" "" "" "RP1L1(NM_178857.5):c.5138C>A (p.T1713N), RP1L1(NM_178857.6):c.5138C>A (p.T1713N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948996" "0" "30" "8" "10466811" "10466811" "subst" "0.000490323" "02330" "RP1L1_000045" "g.10466811C>A" "" "" "" "RP1L1(NM_178857.5):c.4797G>T (p.L1599=), RP1L1(NM_178857.6):c.4797G>T (p.L1599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948997" "0" "30" "8" "10467130" "10467130" "subst" "0.00152552" "02330" "RP1L1_000566" "g.10467130G>A" "" "" "" "RP1L1(NM_178857.6):c.4478C>T (p.A1493V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948998" "0" "30" "8" "10468911" "10468911" "subst" "3.72207E-5" "02330" "RP1L1_000398" "g.10468911C>T" "" "" "" "RP1L1(NM_178857.5):c.2697G>A (p.P899=), RP1L1(NM_178857.6):c.2697G>A (p.P899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948999" "0" "70" "8" "10469128" "10469128" "subst" "0" "02327" "RP1L1_000567" "g.10469128G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000949000" "0" "30" "8" "10470815" "10470815" "subst" "0.000336792" "02330" "RP1L1_000125" "g.10470815G>C" "" "" "" "RP1L1(NM_178857.5):c.793C>G (p.R265G), RP1L1(NM_178857.6):c.793C>G (p.R265G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000958054" "3" "90" "8" "10470486" "10470486" "subst" "4.07435E-6" "00006" "RP1L1_000419" "g.10470486C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10612976C>T" "987300" "pathogenic" "ACMG"
"0000958162" "11" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00006" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10623069G>A" "2193" "likely pathogenic" "ACMG"
"0000958210" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00006" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10623069G>A" "2193" "likely pathogenic" "ACMG"
"0000958212" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00006" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10623069G>A" "2193" "likely pathogenic" "ACMG"
"0000958213" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00006" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10623069G>A" "2193" "likely pathogenic" "ACMG"
"0000958230" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00006" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.10623069G>A" "2193" "likely pathogenic" "ACMG"
"0000958241" "0" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00006" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.10623069G>A" "2193" "likely pathogenic" "ACMG"
"0000958406" "0" "50" "8" "10465309" "10465309" "subst" "0" "00006" "RP1L1_000571" "g.10465309C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10607799C>G" "" "VUS" "ACMG"
"0000958407" "0" "50" "8" "10470663" "10470663" "subst" "1.63749E-5" "00006" "RP1L1_000585" "g.10470663C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10613153C>T" "" "VUS" "ACMG"
"0000958426" "3" "90" "8" "10469501" "10469501" "subst" "8.12817E-6" "00006" "RP1L1_000583" "g.10469501G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10611991G>A" "" "pathogenic" "ACMG"
"0000958453" "0" "70" "8" "10465793" "10465793" "subst" "0" "00006" "RP1L1_000573" "g.10465793C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.10608283C>A" "" "likely pathogenic" "ACMG"
"0000958507" "11" "50" "8" "10480263" "10480263" "subst" "4.07973E-6" "00006" "RP1L1_000007" "g.10480263G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.10622753G>A" "" "VUS" "ACMG"
"0000958511" "0" "70" "8" "10450447" "10501908" "del" "0" "00006" "RP1L1_000568" "g.10450447_10501908del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000958554" "0" "50" "8" "10480263" "10480263" "subst" "4.07973E-6" "00006" "RP1L1_000007" "g.10480263G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.10622753G>A" "" "VUS" "ACMG"
"0000958569" "0" "50" "8" "10468735" "10468735" "subst" "2.45849E-5" "00006" "RP1L1_000002" "g.10468735C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BS2_SUPPORTING" "Germline" "" "" "0" "" "" "g.10611225C>T" "" "VUS" "ACMG"
"0000958570" "0" "50" "8" "10480263" "10480263" "subst" "4.07973E-6" "00006" "RP1L1_000007" "g.10480263G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.10622753G>A" "" "VUS" "ACMG"
"0000958594" "0" "70" "8" "10445159" "10466425" "del" "0" "00006" "RP1_000000" "g.10445159_10466425del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000958617" "0" "70" "8" "10467458" "10467458" "subst" "0" "00006" "RP1L1_000578" "g.10467458C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.10609948C>A" "" "likely pathogenic" "ACMG"
"0000958618" "0" "50" "8" "10467254" "10467254" "subst" "0" "00006" "RP1L1_000577" "g.10467254C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10609744C>T" "" "VUS" "ACMG"
"0000958651" "21" "90" "8" "10480385" "10480386" "ins" "0.00140369" "00006" "RP1L1_000016" "g.10480385_10480386insA" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.10622875_10622876insA" "" "pathogenic" "ACMG"
"0000958652" "0" "50" "8" "10465724" "10465724" "subst" "0" "00006" "RP1L1_000572" "g.10465724C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10608214C>G" "" "VUS" "ACMG"
"0000958665" "0" "90" "8" "10465649" "10465649" "subst" "0.00161808" "00006" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10608139G>A" "" "pathogenic" "ACMG"
"0000958674" "3" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "00006" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000958830" "3" "50" "8" "10468726" "10468726" "subst" "0" "00006" "RP1L1_000580" "g.10468726A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.10611216A>G" "" "VUS" "ACMG"
"0000959002" "0" "50" "8" "10480288" "10480290" "del" "0" "00006" "RP1L1_000587" "g.10480288_10480290del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM4; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.10622778_10622780del" "" "VUS" "ACMG"
"0000959025" "0" "50" "8" "10468013" "10468013" "subst" "0" "00006" "RP1L1_000579" "g.10468013A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.10610503A>C" "" "VUS" "ACMG"
"0000959033" "0" "50" "8" "10466002" "10466002" "subst" "2.03341E-5" "00006" "RP1L1_000575" "g.10466002G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.10608492G>C" "" "VUS" "ACMG"
"0000959085" "0" "50" "8" "10480263" "10480263" "subst" "4.07973E-6" "00006" "RP1L1_000007" "g.10480263G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.10622753G>A" "" "VUS" "ACMG"
"0000959103" "0" "50" "8" "10480214" "10480214" "subst" "0" "00006" "RP1L1_000586" "g.10480214C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.10622704C>G" "" "VUS" "ACMG"
"0000959108" "0" "70" "8" "10469281" "10469292" "delins" "0" "00006" "RP1L1_000582" "g.10469281_10469292delinsTTGGGGCCGGT" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.10611771_10611782delinsTTGGGGCCGGT" "" "likely pathogenic" "ACMG"
"0000959148" "0" "50" "8" "10464571" "10464571" "subst" "0" "00006" "RP1L1_000569" "g.10464571T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10607061T>G" "" "VUS" "ACMG"
"0000959180" "0" "50" "8" "10467122" "10467122" "subst" "3.75855E-5" "00006" "RP1L1_000048" "g.10467122T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10609612T>G" "" "VUS" "ACMG"
"0000959181" "0" "90" "8" "10465649" "10465649" "subst" "0.00161808" "00006" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10608139G>A" "" "pathogenic" "ACMG"
"0000959257" "0" "70" "8" "10465787" "10465787" "subst" "0.000382005" "00006" "RP1L1_000493" "g.10465787G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5" "Germline" "" "" "0" "" "" "g.10608277G>A" "" "likely pathogenic" "ACMG"
"0000959337" "0" "50" "8" "10469926" "10469926" "subst" "4.11063E-6" "00006" "RP1L1_000584" "g.10469926G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10612416G>T" "" "VUS" "ACMG"
"0000959338" "0" "50" "8" "10480500" "10480500" "subst" "0.000228687" "00006" "RP1L1_000588" "g.10480500C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.10622990C>T" "" "VUS" "ACMG"
"0000959339" "0" "90" "8" "10465649" "10465649" "subst" "0.00161808" "00006" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10608139G>A" "" "pathogenic" "ACMG"
"0000959391" "0" "70" "8" "10465820" "10465820" "subst" "0" "00006" "RP1L1_000574" "g.10465820C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.10608310C>A" "" "likely pathogenic" "ACMG"
"0000959416" "0" "50" "8" "10466344" "10466344" "subst" "0" "00006" "RP1L1_000576" "g.10466344T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10608834T>C" "" "VUS" "ACMG"
"0000959417" "0" "50" "8" "10464952" "10464952" "subst" "1.62521E-5" "00006" "RP1L1_000570" "g.10464952T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10607442T>C" "" "VUS" "ACMG"
"0000959430" "0" "50" "8" "10468964" "10468964" "subst" "5.83669E-6" "00006" "RP1L1_000581" "g.10468964G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.10611454G>C" "" "VUS" "ACMG"
"0000959997" "3" "10" "8" "10480620" "10480620" "subst" "2.90864E-5" "00006" "RP1L1_000386" "g.10480620G>A" "" "{PMID:Zeitz 2024:38293907}" "" "" "" "Germline" "" "" "0" "" "" "g.10623110G>A" "" "benign" ""
"0000964759" "0" "30" "8" "10467333" "10467333" "subst" "0.000264022" "02330" "RP1L1_000589" "g.10467333G>T" "" "" "" "RP1L1(NM_178857.6):c.4275C>A (p.D1425E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000964768" "0" "50" "8" "10468876" "10468876" "subst" "4.21049E-5" "02327" "RP1L1_000590" "g.10468876C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000964769" "0" "30" "8" "10468965" "10468965" "subst" "0.000168338" "02330" "RP1L1_000591" "g.10468965G>A" "" "" "" "RP1L1(NM_178857.6):c.2643C>T (p.A881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000964771" "0" "30" "8" "10469167" "10469167" "subst" "0.000249275" "02330" "RP1L1_000256" "g.10469167T>C" "" "" "" "RP1L1(NM_178857.6):c.2441A>G (p.E814G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000964772" "0" "30" "8" "10469370" "10469370" "subst" "0.000780069" "02330" "RP1L1_000097" "g.10469370C>T" "" "" "" "RP1L1(NM_178857.5):c.2238G>A (p.S746=), RP1L1(NM_178857.6):c.2238G>A (p.S746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000964776" "0" "50" "8" "10480362" "10480362" "subst" "4.135E-6" "02327" "RP1L1_000592" "g.10480362C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977970" "0" "50" "8" "10464557" "10464557" "subst" "0" "01804" "RP1L1_000593" "g.10464557C>A" "" "" "" "RP1L1(NM_178857.6):c.7051G>T (p.(Glu2351Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977971" "0" "30" "8" "10465962" "10465962" "subst" "0" "01804" "RP1L1_000594" "g.10465962C>A" "" "" "" "RP1L1(NM_178857.6):c.5646G>T (p.(Glu1882Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977972" "0" "30" "8" "10465990" "10465990" "subst" "6.80321E-5" "01804" "RP1L1_000218" "g.10465990T>C" "" "" "" "RP1L1(NM_178857.6):c.5618A>G (p.(Asp1873Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977973" "0" "50" "8" "10466010" "10466010" "subst" "0.000130265" "01804" "RP1L1_000595" "g.10466010C>A" "" "" "" "RP1L1(NM_178857.6):c.5598G>T (p.(Glu1866Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977976" "0" "30" "8" "10467589" "10467589" "del" "0" "01804" "RP1L1_000596" "g.10467589del" "" "" "" "RP1L1(NM_178857.6):c.4021del (p.(Thr1341LeufsTer16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977977" "0" "50" "8" "10467682" "10467687" "del" "0" "02325" "RP1L1_000597" "g.10467682_10467687del" "" "" "" "RP1L1(NM_178857.5):c.3922_3927delGAAGGA (p.(Glu1308_Gly1309del)), RP1L1(NM_178857.6):c.3922_3927delGAAGGA (p.E1308_G1309del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977978" "0" "30" "8" "10468094" "10468094" "subst" "0.00311664" "01804" "RP1L1_000079" "g.10468094G>T" "" "" "" "RP1L1(NM_178857.5):c.3514C>A (p.L1172I), RP1L1(NM_178857.6):c.3514C>A (p.L1172I, p.(Leu1172Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977979" "0" "50" "8" "10468667" "10468667" "subst" "4.12371E-6" "01804" "RP1L1_000598" "g.10468667C>G" "" "" "" "RP1L1(NM_178857.6):c.2941G>C (p.(Gly981Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000986567" "3" "70" "8" "10470102" "10470102" "del" "0" "04405" "RP1L1_000603" "g.10470102del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10612592del" "" "likely pathogenic" "ACMG"
"0000986568" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "04405" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000986569" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "04405" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000986570" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "04405" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000986571" "1" "50" "8" "10468013" "10468013" "subst" "0" "04405" "RP1L1_000579" "g.10468013A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10610503A>C" "" "VUS" "ACMG"
"0000986572" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "04405" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000986573" "3" "70" "8" "10468219" "10468224" "delins" "0" "04405" "RP1L1_000601" "g.10468219_10468224delinsCCTC" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10610709_10610714delinsCCTC" "" "likely pathogenic" "ACMG"
"0000986574" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "04405" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000986575" "1" "90" "8" "10466300" "10466300" "subst" "0" "04405" "RP1L1_000599" "g.10466300G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10608790G>A" "" "pathogenic" "ACMG"
"0000986576" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "04405" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000986577" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "04405" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000986578" "1" "90" "8" "10468099" "10468099" "subst" "0" "04405" "RP1L1_000600" "g.10468099G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10610589G>T" "" "pathogenic" "ACMG"
"0000986579" "3" "50" "8" "10468736" "10468736" "subst" "0.000155554" "04405" "RP1L1_000602" "g.10468736G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10611226G>A" "" "VUS" "ACMG"
"0000986580" "1" "50" "8" "10468009" "10468009" "subst" "0" "04405" "RP1L1_000456" "g.10468009C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10610499C>A" "" "VUS" "ACMG"
"0000986581" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "04405" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000986582" "1" "70" "8" "10480579" "10480579" "subst" "1.64417E-5" "04405" "RP1L1_000006" "g.10480579G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10623069G>A" "" "likely pathogenic" "ACMG"
"0000986760" "1" "50" "8" "10480501" "10480501" "subst" "0.000179742" "04405" "RP1L1_000604" "g.10480501G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.10622991G>A" "" "VUS" "ACMG"
"0000986762" "2" "50" "8" "10480111" "10480111" "subst" "0.000167138" "04405" "RP1L1_000561" "g.10480111C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.10622601C>T" "" "VUS" "ACMG"
"0000986957" "2" "50" "8" "10480263" "10480263" "subst" "4.07973E-6" "04405" "RP1L1_000007" "g.10480263G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10622753G>A" "" "VUS" "ACMG"
"0000986958" "2" "50" "8" "10480263" "10480263" "subst" "4.07973E-6" "04405" "RP1L1_000007" "g.10480263G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10622753G>A" "" "VUS" "ACMG"
"0000986959" "2" "50" "8" "10480263" "10480263" "subst" "4.07973E-6" "04405" "RP1L1_000007" "g.10480263G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.10622753G>A" "" "VUS" "ACMG"
"0000987038" "0" "90" "8" "10465649" "10465649" "subst" "0.00161808" "00006" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.10608139G>A" "" "pathogenic" "ACMG"
"0000987060" "0" "90" "8" "10465649" "10465649" "subst" "0.00161808" "00006" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.10608139G>A" "" "pathogenic" "ACMG"
"0000987149" "0" "90" "8" "10480385" "10480386" "ins" "0.00140369" "00006" "RP1L1_000016" "g.10480385_10480386insA" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.10622875_10622876insA" "" "pathogenic" "ACMG"
"0000987219" "0" "70" "8" "10465490" "10465490" "subst" "6.90653E-5" "00006" "RP1L1_000194" "g.10465490C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.10607980C>A" "" "likely pathogenic" "ACMG"
"0000987243" "0" "90" "8" "10465649" "10465649" "subst" "0.00161808" "00006" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.10608139G>A" "" "pathogenic" "ACMG"
"0000987247" "0" "90" "8" "10465649" "10465649" "subst" "0.00161808" "00006" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.10608139G>A" "" "pathogenic" "ACMG"
"0000987339" "0" "90" "8" "10465649" "10465649" "subst" "0.00161808" "00006" "RP1L1_000302" "g.10465649G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.10608139G>A" "" "pathogenic" "ACMG"
"0000987341" "0" "90" "8" "10465490" "10465490" "subst" "6.90653E-5" "00006" "RP1L1_000194" "g.10465490C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.10607980C>A" "" "pathogenic" "ACMG"
"0000996840" "0" "30" "8" "10464963" "10464963" "subst" "0.000154385" "02330" "RP1L1_000605" "g.10464963C>T" "" "" "" "RP1L1(NM_178857.6):c.6645G>A (p.P2215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996841" "0" "30" "8" "10466330" "10466330" "subst" "1.62454E-5" "01804" "RP1L1_000606" "g.10466330G>A" "" "" "" "RP1L1(NM_178857.5):c.5278C>T (p.(Leu1760Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996842" "0" "30" "8" "10466702" "10466702" "subst" "0.000650077" "02330" "RP1L1_000422" "g.10466702C>T" "" "" "" "RP1L1(NM_178857.5):c.4906G>A (p.E1636K), RP1L1(NM_178857.6):c.4906G>A (p.E1636K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996843" "0" "50" "8" "10466783" "10466783" "subst" "0.000113623" "01804" "RP1L1_000607" "g.10466783G>A" "" "" "" "RP1L1(NM_178857.5):c.4825C>T (p.(Arg1609Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000996844" "0" "30" "8" "10466876" "10466878" "dup" "0" "02330" "RP1L1_000608" "g.10466876_10466878dup" "" "" "" "RP1L1(NM_178857.6):c.4732_4734dupAAG (p.K1578dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996845" "0" "30" "8" "10467673" "10467674" "ins" "0" "01804" "RP1L1_000609" "g.10467673_10467674insTGTTTTAGTTTCCTCTAACTGCACCCCCT" "" "" "" "RP1L1(NM_178857.5):c.3934_3935insAGGGGGTGCAGTTAGAGGAAACTAAAACA (p.(Gly1312fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996846" "0" "30" "8" "10467673" "10467675" "del" "0" "01804" "RP1L1_000074" "g.10467673_10467675del" "" "" "" "RP1L1(NM_178857.5):c.3935_3937delGAG (p.(Gly1312del)), RP1L1(NM_178857.6):c.3935_3937delGAG (p.G1312del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996847" "0" "50" "8" "10467682" "10467687" "del" "0" "01804" "RP1L1_000597" "g.10467682_10467687del" "" "" "" "RP1L1(NM_178857.5):c.3922_3927delGAAGGA (p.(Glu1308_Gly1309del)), RP1L1(NM_178857.6):c.3922_3927delGAAGGA (p.E1308_G1309del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000996848" "0" "30" "8" "10468807" "10468807" "subst" "0" "01804" "RP1L1_000610" "g.10468807G>A" "" "" "" "RP1L1(NM_178857.5):c.2801C>T (p.(Pro934Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996849" "0" "30" "8" "10469417" "10469417" "subst" "1.62496E-5" "01804" "RP1L1_000611" "g.10469417C>G" "" "" "" "RP1L1(NM_178857.5):c.2191G>C (p.(Asp731His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996850" "0" "50" "8" "10470805" "10470805" "subst" "0.000313671" "01804" "RP1L1_000612" "g.10470805G>T" "" "" "" "RP1L1(NM_178857.5):c.803C>A (p.(Pro268Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000996851" "0" "30" "8" "10470815" "10470815" "subst" "1.70528E-5" "01804" "RP1L1_000532" "g.10470815G>A" "" "" "" "RP1L1(NM_178857.5):c.793C>T (p.R265W, p.(Arg265Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996853" "0" "90" "8" "10480383" "10480383" "subst" "0.000115724" "01804" "RP1L1_000001" "g.10480383G>A" "" "" "" "RP1L1(NM_178857.5):c.329C>T (p.P110L, p.(Pro110Leu)), RP1L1(NM_178857.6):c.329C>T (p.P110L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000996854" "0" "30" "8" "10480680" "10480680" "subst" "0.000766342" "01804" "RP1L1_000291" "g.10480680G>A" "" "" "" "RP1L1(NM_178857.5):c.32C>T (p.(Pro11Leu)), RP1L1(NM_178857.6):c.32C>T (p.P11L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014399" "0" "30" "8" "10467458" "10467458" "subst" "0" "02330" "RP1L1_000234" "g.10467458C>G" "" "" "" "RP1L1(NM_178857.6):c.4150G>C (p.G1384R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001025469" "0" "10" "8" "10467589" "10467589" "subst" "0" "02325" "RP1L1_000158" "g.10467589T>C" "" "" "" "RP1L1(NM_178857.6):c.4019A>G (p.(Glu1340Gly), p.E1340G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001025470" "0" "30" "8" "10468581" "10468581" "subst" "0.000409165" "02330" "RP1L1_000613" "g.10468581C>T" "" "" "" "RP1L1(NM_178857.6):c.3027G>A (p.A1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001036674" "0" "10" "8" "10467589" "10467589" "subst" "0" "01804" "RP1L1_000158" "g.10467589T>C" "" "" "" "RP1L1(NM_178857.6):c.4019A>G (p.(Glu1340Gly), p.E1340G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001036675" "0" "50" "8" "10468963" "10468963" "subst" "5.2781E-5" "01804" "RP1L1_000614" "g.10468963C>T" "" "" "" "RP1L1(NM_178857.6):c.2645G>A (p.(Arg882Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001036676" "0" "30" "8" "10469938" "10469938" "subst" "0" "01804" "RP1L1_000615" "g.10469938C>T" "" "" "" "RP1L1(NM_178857.6):c.1670G>A (p.(Gly557Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 RP1L1
## Count = 1164
"{{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}}"
"0000090900" "00018053" "50" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Pro110Leu)" "2"
"0000090901" "00018053" "50" "2873" "0" "2873" "0" "c.2873G>A" "r.(?)" "p.(Arg958His)" "4"
"0000090902" "00018053" "50" "3773" "0" "3773" "0" "c.3773T>C" "r.(?)" "p.(Phe1258Ser)" "4"
"0000090903" "00018053" "50" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" "4"
"0000090904" "00018053" "50" "3599" "0" "3599" "0" "c.3599G>C" "r.(?)" "p.(Gly1200Ala)" "4"
"0000090905" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000090906" "00018053" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" "2"
"0000090907" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000090908" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000090909" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000090910" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000090911" "00018053" "50" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Arg45Gln)" "2"
"0000090912" "00018053" "30" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "2"
"0000090913" "00018053" "30" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Thr350Met)" "4"
"0000090914" "00018053" "30" "1070" "0" "1070" "0" "c.1070C>G" "r.(?)" "p.(Pro357Arg)" "4"
"0000090915" "00018053" "70" "1637" "0" "1637" "0" "c.1637G>C" "r.(?)" "p.(Ser546Thr)" "4"
"0000090916" "00018053" "30" "2915" "0" "2915" "0" "c.2915C>T" "r.(?)" "p.(Thr972Ile)" "4"
"0000090917" "00018053" "30" "3200" "0" "3200" "0" "c.3200G>C" "r.(?)" "p.(Gly1067Ala)" "4"
"0000090918" "00018053" "90" "603" "0" "603" "0" "c.603del" "r.(?)" "p.(Lys203Argfs*28)" "2"
"0000091176" "00018053" "50" "7117" "0" "7117" "0" "c.7117C>T" "r.(?)" "p.(Gln2373*)" "4"
"0000091177" "00018053" "90" "326" "0" "327" "0" "c.326_327insT" "r.(?)" "p.(Lys111Glnfs*27)" "2"
"0000246664" "00018053" "10" "444" "0" "444" "0" "c.444T>G" "r.(?)" "p.(Leu148=)" ""
"0000246665" "00018053" "10" "7047" "0" "7047" "0" "c.7047T>C" "r.(?)" "p.(Thr2349=)" ""
"0000246711" "00018053" "10" "4007" "0" "4007" "0" "c.4007T>C" "r.(?)" "p.(Val1336Ala)" ""
"0000246712" "00018053" "10" "4007" "0" "4007" "0" "c.4007T>A" "r.(?)" "p.(Val1336Glu)" ""
"0000246743" "00018053" "30" "3992" "0" "3992" "0" "c.3992T>G" "r.(?)" "p.(Leu1331Arg)" ""
"0000246745" "00018053" "30" "2146" "0" "2146" "0" "c.2146T>C" "r.(?)" "p.(Ser716Pro)" ""
"0000248837" "00018053" "10" "2375" "0" "2375" "0" "c.2375T>C" "r.(?)" "p.(Leu792Pro)" ""
"0000253355" "00018053" "10" "444" "0" "444" "0" "c.444T>G" "r.(?)" "p.(Leu148=)" ""
"0000254137" "00018053" "30" "7047" "0" "7047" "0" "c.7047T>C" "r.(?)" "p.(Thr2349=)" ""
"0000254652" "00018053" "30" "4012" "0" "4012" "0" "c.4012T>C" "r.(?)" "p.(Leu1338=)" ""
"0000256332" "00018053" "50" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Met65Thr)" ""
"0000294908" "00018053" "30" "1100" "0" "1100" "0" "c.1100G>A" "r.(?)" "p.(Cys367Tyr)" ""
"0000294909" "00018053" "30" "1227" "0" "1227" "0" "c.1227G>A" "r.(?)" "p.(Thr409=)" ""
"0000294911" "00018053" "10" "1273" "0" "1273" "0" "c.1273A>C" "r.(?)" "p.(Arg425=)" ""
"0000294912" "00018053" "10" "1488" "0" "1488" "0" "c.1488A>G" "r.(?)" "p.(Gly496=)" ""
"0000294913" "00018053" "30" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Gly519Ser)" ""
"0000294914" "00018053" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Ala52=)" ""
"0000294915" "00018053" "10" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" ""
"0000294916" "00018053" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Arg56=)" ""
"0000294917" "00018053" "10" "1702" "0" "1702" "0" "c.1702G>C" "r.(?)" "p.(Ala568Pro)" ""
"0000294918" "00018053" "10" "1723" "0" "1723" "0" "c.1723G>A" "r.(?)" "p.(Ala575Thr)" ""
"0000294919" "00018053" "10" "1842" "0" "1842" "0" "c.1842C>A" "r.(?)" "p.(Gly614=)" ""
"0000294920" "00018053" "30" "2074" "0" "2074" "0" "c.2074C>T" "r.(?)" "p.(Arg692Trp)" ""
"0000294921" "00018053" "10" "2319" "0" "2319" "0" "c.2319G>A" "r.(?)" "p.(Pro773=)" ""
"0000294922" "00018053" "30" "2456" "0" "2456" "0" "c.2456G>A" "r.(?)" "p.(Gly819Asp)" ""
"0000294923" "00018053" "10" "249" "0" "249" "0" "c.249A>G" "r.(?)" "p.(Thr83=)" ""
"0000294924" "00018053" "10" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Arg860Gln)" ""
"0000294925" "00018053" "10" "2580" "0" "2580" "0" "c.2580G>C" "r.(?)" "p.(Arg860=)" ""
"0000294927" "00018053" "10" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882Trp)" ""
"0000294928" "00018053" "10" "2693" "0" "2693" "0" "c.2693C>A" "r.(?)" "p.(Thr898Lys)" ""
"0000294929" "00018053" "10" "273" "0" "273" "0" "c.273C>T" "r.(?)" "p.(Ser91=)" ""
"0000294930" "00018053" "10" "2751" "0" "2751" "0" "c.2751G>A" "r.(?)" "p.(Ala917=)" ""
"0000294931" "00018053" "30" "2848" "0" "2848" "0" "c.2848C>T" "r.(?)" "p.(Arg950Cys)" ""
"0000294933" "00018053" "10" "3255" "0" "3255" "0" "c.3255C>G" "r.(?)" "p.(Ile1085Met)" ""
"0000294934" "00018053" "50" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Pro110Leu)" ""
"0000294935" "00018053" "10" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Pro113Ser)" ""
"0000294936" "00018053" "10" "3514" "0" "3514" "0" "c.3514C>A" "r.(?)" "p.(Leu1172Ile)" ""
"0000294937" "00018053" "10" "3591" "0" "3591" "0" "c.3591C>T" "r.(?)" "p.(Ser1197=)" ""
"0000294938" "00018053" "10" "3930" "0" "3930" "0" "c.3930A>G" "r.(?)" "p.(Thr1310=)" ""
"0000294939" "00018053" "10" "3935" "0" "3937" "0" "c.3935_3937del" "r.(?)" "p.(Gly1312del)" ""
"0000294940" "00018053" "30" "3935" "0" "3935" "0" "c.3935G>A" "r.(?)" "p.(Gly1312Glu)" ""
"0000294941" "00018053" "10" "3955" "0" "3956" "0" "c.3955_3956insGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTG" "r.(?)" "p.(Ala1319GlyfsTer17)" ""
"0000294942" "00018053" "10" "3956" "0" "4003" "0" "c.3956_4003del" "r.(?)" "p.(Ala1319_Glu1334del)" ""
"0000294943" "00018053" "30" "3971" "0" "4016" "0" "c.3971_4016del" "r.(?)" "p.(Glu1324GlyfsTer18)" ""
"0000294944" "00018053" "10" "3972" "0" "3972" "0" "c.3972A>G" "r.(?)" "p.(Glu1324=)" ""
"0000294945" "00018053" "30" "3973" "0" "3973" "0" "c.3973A>G" "r.(?)" "p.(Thr1325Ala)" ""
"0000294946" "00018053" "10" "3974" "0" "3974" "0" "c.3974C>A" "r.(?)" "p.(Thr1325Asn)" ""
"0000294947" "00018053" "10" "3979" "0" "3979" "0" "c.3979A>G" "r.(?)" "p.(Thr1327Ala)" ""
"0000294948" "00018053" "30" "3980" "0" "3980" "0" "c.3980C>A" "r.(?)" "p.(Thr1327Lys)" ""
"0000294949" "00018053" "10" "3980" "0" "3980" "0" "c.3980C>T" "r.(?)" "p.(Thr1327Ile)" ""
"0000294950" "00018053" "10" "3981" "0" "3981" "0" "c.3981A>G" "r.(?)" "p.(Thr1327=)" ""
"0000294951" "00018053" "10" "3982" "0" "3982" "0" "c.3982G>A" "r.(?)" "p.(Glu1328Lys)" ""
"0000294953" "00018053" "10" "3983" "0" "3983" "0" "c.3983A>T" "r.(?)" "p.(Glu1328Val)" ""
"0000294954" "00018053" "10" "3987" "0" "3987" "0" "c.3987A>G" "r.(?)" "p.(Glu1329=)" ""
"0000294955" "00018053" "10" "3990" "0" "3990" "0" "c.3990G>A" "r.(?)" "p.(Gly1330=)" ""
"0000294956" "00018053" "10" "3991" "0" "3991" "0" "c.3991C>A" "r.(?)" "p.(Leu1331Met)" ""
"0000294957" "00018053" "10" "3991" "0" "3991" "0" "c.3991C>G" "r.(?)" "p.(Leu1331Val)" ""
"0000294958" "00018053" "10" "3994" "0" "3994" "0" "c.3994C>G" "r.(?)" "p.(Gln1332Glu)" ""
"0000294959" "00018053" "10" "3999" "0" "3999" "0" "c.3999A>G" "r.(?)" "p.(Glu1333=)" ""
"0000294960" "00018053" "10" "4002" "0" "4002" "0" "c.4002G>A" "r.(?)" "p.(Glu1334=)" ""
"0000294961" "00018053" "10" "4009" "0" "4009" "0" "c.4009C>A" "r.(?)" "p.(Gln1337Lys)" ""
"0000294963" "00018053" "30" "4020" "0" "4021" "0" "c.4020_4021del" "r.(?)" "p.(Glu1340AspfsTer2)" ""
"0000294964" "00018053" "10" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" ""
"0000294966" "00018053" "30" "4247" "0" "4247" "0" "c.4247C>T" "r.(?)" "p.(Pro1416Leu)" ""
"0000294967" "00018053" "10" "4323" "0" "4323" "0" "c.4323G>A" "r.(?)" "p.(Pro1441=)" ""
"0000294968" "00018053" "30" "4360" "0" "4360" "0" "c.4360C>T" "r.(?)" "p.(Pro1454Ser)" ""
"0000294969" "00018053" "30" "4444" "0" "4444" "0" "c.4444G>A" "r.(?)" "p.(Gly1482Arg)" ""
"0000294970" "00018053" "10" "4851" "0" "4851" "0" "c.4851G>C" "r.(?)" "p.(Ser1617=)" ""
"0000294971" "00018053" "10" "4865" "0" "4865" "0" "c.4865G>A" "r.(?)" "p.(Arg1622Gln)" ""
"0000294973" "00018053" "10" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Arg163=)" ""
"0000294974" "00018053" "10" "5421" "0" "5421" "0" "c.5421C>G" "r.(?)" "p.(Gly1807=)" ""
"0000294975" "00018053" "50" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Gly183=)" ""
"0000294976" "00018053" "30" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Cys)" ""
"0000294977" "00018053" "50" "5810" "0" "5810" "0" "c.5810G>A" "r.(?)" "p.(Gly1937Asp)" ""
"0000294978" "00018053" "10" "6000" "0" "6000" "0" "c.6000A>G" "r.(?)" "p.(Val2000=)" ""
"0000294979" "00018053" "50" "6265" "0" "6265" "0" "c.6265del" "r.(?)" "p.(Glu2089ArgfsTer13)" ""
"0000294980" "00018053" "10" "6344" "0" "6344" "0" "c.6344G>A" "r.(?)" "p.(Gly2115Asp)" ""
"0000294981" "00018053" "10" "6689" "0" "6689" "0" "c.6689C>T" "r.(?)" "p.(Thr2230Ile)" ""
"0000294982" "00018053" "30" "670" "0" "670" "0" "c.670G>A" "r.(?)" "p.(Ala224Thr)" ""
"0000294983" "00018053" "10" "6812" "0" "6812" "0" "c.6812C>G" "r.(?)" "p.(Pro2271Arg)" ""
"0000294984" "00018053" "10" "6858" "0" "6858" "0" "c.6858C>T" "r.(?)" "p.(Asp2286=)" ""
"0000294985" "00018053" "10" "752" "-18" "752" "-18" "c.752-18C>G" "r.(=)" "p.(=)" ""
"0000294986" "00018053" "10" "814" "0" "814" "0" "c.814C>G" "r.(?)" "p.(Pro272Ala)" ""
"0000294987" "00018053" "30" "917" "0" "917" "0" "c.917G>C" "r.(?)" "p.(Gly306Ala)" ""
"0000294988" "00018053" "10" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Asp318=)" ""
"0000297718" "00018053" "10" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Gly514Ser)" ""
"0000297719" "00018053" "10" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(Gly597=)" ""
"0000297720" "00018053" "10" "3436" "0" "3436" "0" "c.3436C>T" "r.(?)" "p.(Arg1146Trp)" ""
"0000297721" "00018053" "10" "3956" "0" "3956" "0" "c.3956C>G" "r.(?)" "p.(Ala1319Gly)" ""
"0000297722" "00018053" "10" "3971" "0" "3971" "0" "c.3971A>G" "r.(?)" "p.(Glu1324Gly)" ""
"0000297723" "00018053" "10" "3972" "0" "3972" "0" "c.3972A>G" "r.(?)" "p.(Glu1324=)" ""
"0000297724" "00018053" "10" "4032" "0" "4032" "0" "c.4032A>G" "r.(?)" "p.(Thr1344=)" ""
"0000297725" "00018053" "10" "4401" "0" "4401" "0" "c.4401G>T" "r.(?)" "p.(Arg1467Ser)" ""
"0000297726" "00018053" "10" "4484" "0" "4484" "0" "c.4484C>G" "r.(?)" "p.(Pro1495Arg)" ""
"0000297727" "00018053" "10" "5126" "0" "5126" "0" "c.5126C>T" "r.(?)" "p.(Ala1709Val)" ""
"0000297728" "00018053" "10" "5837" "0" "5837" "0" "c.5837C>A" "r.(?)" "p.(Ala1946Glu)" ""
"0000297729" "00018053" "10" "5860" "0" "5860" "0" "c.5860A>G" "r.(?)" "p.(Thr1954Ala)" ""
"0000297730" "00018053" "10" "6511" "0" "6511" "0" "c.6511G>A" "r.(?)" "p.(Glu2171Lys)" ""
"0000297731" "00018053" "10" "665" "0" "665" "0" "c.665A>C" "r.(?)" "p.(His222Pro)" ""
"0000297732" "00018053" "10" "6723" "0" "6723" "0" "c.6723A>G" "r.(?)" "p.(Ser2241=)" ""
"0000297733" "00018053" "10" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Gly2285Arg)" ""
"0000307224" "00018053" "30" "1092" "0" "1092" "0" "c.1092C>G" "r.(?)" "p.(Pro364=)" ""
"0000307225" "00018053" "50" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Arg)" ""
"0000307226" "00018053" "30" "130" "0" "130" "0" "c.130C>G" "r.(?)" "p.(Pro44Ala)" ""
"0000307227" "00018053" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(His440=)" ""
"0000307228" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000307229" "00018053" "50" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Cys)" ""
"0000307230" "00018053" "30" "1509" "0" "1509" "0" "c.1509C>T" "r.(?)" "p.(Pro503=)" ""
"0000307231" "00018053" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Ser569=)" ""
"0000307232" "00018053" "30" "1843" "0" "1843" "0" "c.1843C>T" "r.(?)" "p.(Leu615Phe)" ""
"0000307233" "00018053" "30" "1971" "0" "1971" "0" "c.1971C>T" "r.(?)" "p.(Gly657=)" ""
"0000307234" "00018053" "10" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(Thr683=)" ""
"0000307235" "00018053" "30" "2238" "0" "2238" "0" "c.2238G>A" "r.(?)" "p.(Ser746=)" ""
"0000307236" "00018053" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" ""
"0000307237" "00018053" "30" "249" "0" "249" "0" "c.249A>G" "r.(?)" "p.(Thr83=)" ""
"0000307238" "00018053" "30" "2583" "0" "2583" "0" "c.2583C>T" "r.(?)" "p.(Pro861=)" ""
"0000307239" "00018053" "30" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(His877Tyr)" ""
"0000307240" "00018053" "30" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882Trp)" ""
"0000307241" "00018053" "30" "273" "0" "273" "0" "c.273C>T" "r.(?)" "p.(Ser91=)" ""
"0000307242" "00018053" "50" "2791" "0" "2791" "0" "c.2791G>T" "r.(?)" "p.(Gly931Trp)" ""
"0000307243" "00018053" "30" "2807" "0" "2807" "0" "c.2807G>A" "r.(?)" "p.(Gly936Glu)" ""
"0000307244" "00018053" "30" "3067" "0" "3067" "0" "c.3067G>C" "r.(?)" "p.(Glu1023Gln)" ""
"0000307245" "00018053" "10" "3255" "0" "3255" "0" "c.3255C>G" "r.(?)" "p.(Ile1085Met)" ""
"0000307246" "00018053" "50" "329" "0" "329" "0" "c.329C>G" "r.(?)" "p.(Pro110Arg)" ""
"0000307247" "00018053" "30" "3591" "0" "3591" "0" "c.3591C>T" "r.(?)" "p.(Ser1197=)" ""
"0000307248" "00018053" "30" "3932" "0" "3932" "0" "c.3932A>G" "r.(?)" "p.(Glu1311Gly)" ""
"0000307249" "00018053" "30" "3955" "0" "3955" "0" "c.3955G>A" "r.(?)" "p.(Ala1319Thr)" ""
"0000307251" "00018053" "10" "3956" "0" "3956" "0" "c.3956C>G" "r.(?)" "p.(Ala1319Gly)" ""
"0000307255" "00018053" "30" "3971" "0" "3971" "0" "c.3971A>G" "r.(?)" "p.(Glu1324Gly)" ""
"0000307256" "00018053" "30" "3972" "0" "3972" "0" "c.3972A>G" "r.(?)" "p.(Glu1324=)" ""
"0000307257" "00018053" "30" "3979" "0" "3979" "0" "c.3979A>G" "r.(?)" "p.(Thr1327Ala)" ""
"0000307258" "00018053" "30" "3980" "0" "3980" "0" "c.3980C>T" "r.(?)" "p.(Thr1327Ile)" ""
"0000307259" "00018053" "30" "3981" "0" "3981" "0" "c.3981A>G" "r.(?)" "p.(Thr1327=)" ""
"0000307260" "00018053" "30" "3982" "0" "3982" "0" "c.3982G>A" "r.(?)" "p.(Glu1328Lys)" ""
"0000307261" "00018053" "30" "3983" "0" "3983" "0" "c.3983A>T" "r.(?)" "p.(Glu1328Val)" ""
"0000307262" "00018053" "30" "4002" "0" "4002" "0" "c.4002G>A" "r.(?)" "p.(Glu1334=)" ""
"0000307263" "00018053" "50" "4003" "0" "4003" "0" "c.4003G>A" "r.(?)" "p.(Gly1335Arg)" ""
"0000307265" "00018053" "10" "4020" "0" "4020" "0" "c.4020A>G" "r.(?)" "p.(Glu1340=)" ""
"0000307266" "00018053" "30" "4027" "0" "4029" "0" "c.4027_4029del" "r.(?)" "p.(Glu1343del)" ""
"0000307267" "00018053" "10" "4032" "0" "4032" "0" "c.4032A>G" "r.(?)" "p.(Thr1344=)" ""
"0000307268" "00018053" "30" "4044" "0" "4044" "0" "c.4044A>G" "r.(?)" "p.(Gly1348=)" ""
"0000307269" "00018053" "30" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" ""
"0000307270" "00018053" "10" "4105" "0" "4105" "0" "c.4105G>A" "r.(?)" "p.(Glu1369Lys)" ""
"0000307271" "00018053" "30" "420" "0" "420" "0" "c.420C>A" "r.(?)" "p.(Gly140=)" ""
"0000307272" "00018053" "30" "4444" "0" "4444" "0" "c.4444G>A" "r.(?)" "p.(Gly1482Arg)" ""
"0000307273" "00018053" "30" "4482" "0" "4482" "0" "c.4482A>G" "r.(?)" "p.(Gln1494=)" ""
"0000307274" "00018053" "30" "4486" "0" "4486" "0" "c.4486A>C" "r.(?)" "p.(Thr1496Pro)" ""
"0000307275" "00018053" "10" "4662" "0" "4662" "0" "c.4662C>G" "r.(?)" "p.(Asp1554Glu)" ""
"0000307276" "00018053" "30" "4671" "0" "4671" "0" "c.4671G>A" "r.(?)" "p.(Ala1557=)" ""
"0000307277" "00018053" "90" "476" "0" "476" "0" "c.476del" "r.(?)" "p.(Asn159ThrfsTer35)" ""
"0000307278" "00018053" "30" "4797" "0" "4797" "0" "c.4797G>T" "r.(?)" "p.(Leu1599=)" ""
"0000307279" "00018053" "30" "4851" "0" "4851" "0" "c.4851G>C" "r.(?)" "p.(Ser1617=)" ""
"0000307280" "00018053" "30" "4865" "0" "4865" "0" "c.4865G>A" "r.(?)" "p.(Arg1622Gln)" ""
"0000307281" "00018053" "30" "5124" "0" "5124" "0" "c.5124G>A" "r.(?)" "p.(Val1708=)" ""
"0000307282" "00018053" "30" "5138" "0" "5138" "0" "c.5138C>A" "r.(?)" "p.(Thr1713Asn)" ""
"0000307283" "00018053" "50" "5408" "0" "5408" "0" "c.5408C>G" "r.(?)" "p.(Thr1803Ser)" ""
"0000307284" "00018053" "50" "5618" "0" "5618" "0" "c.5618A>T" "r.(?)" "p.(Asp1873Val)" ""
"0000307285" "00018053" "30" "5793" "0" "5793" "0" "c.5793C>T" "r.(?)" "p.(Asp1931=)" ""
"0000307286" "00018053" "30" "5799" "0" "5799" "0" "c.5799A>G" "r.(?)" "p.(Pro1933=)" ""
"0000307287" "00018053" "50" "5818" "0" "5818" "0" "c.5818G>T" "r.(?)" "p.(Ala1940Ser)" ""
"0000307288" "00018053" "10" "5837" "0" "5837" "0" "c.5837C>A" "r.(?)" "p.(Ala1946Glu)" ""
"0000307289" "00018053" "10" "5860" "0" "5860" "0" "c.5860A>G" "r.(?)" "p.(Thr1954Ala)" ""
"0000307290" "00018053" "30" "6178" "0" "6178" "0" "c.6178G>A" "r.(?)" "p.(Ala2060Thr)" ""
"0000307291" "00018053" "50" "6334" "0" "6378" "0" "c.6334_6378del" "r.(?)" "p.(Lys2112_Gln2126del)" ""
"0000307292" "00018053" "50" "6397" "0" "6397" "0" "c.6397G>A" "r.(?)" "p.(Glu2133Lys)" ""
"0000307293" "00018053" "50" "6404" "0" "6404" "0" "c.6404C>A" "r.(?)" "p.(Pro2135Gln)" ""
"0000307294" "00018053" "30" "6545" "0" "6545" "0" "c.6545C>A" "r.(?)" "p.(Ala2182Asp)" ""
"0000307295" "00018053" "50" "6602" "0" "6602" "0" "c.6602C>T" "r.(?)" "p.(Ala2201Val)" ""
"0000307296" "00018053" "30" "6812" "0" "6812" "0" "c.6812C>G" "r.(?)" "p.(Pro2271Arg)" ""
"0000307297" "00018053" "30" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Ser264=)" ""
"0000307298" "00018053" "50" "793" "0" "793" "0" "c.793C>G" "r.(?)" "p.(Arg265Gly)" ""
"0000307299" "00018053" "90" "831" "0" "831" "0" "c.831del" "r.(?)" "p.(Arg277SerfsTer33)" ""
"0000307300" "00018053" "30" "917" "0" "917" "0" "c.917G>C" "r.(?)" "p.(Gly306Ala)" ""
"0000307301" "00018053" "10" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Asp318=)" ""
"0000307302" "00018053" "50" "956" "0" "956" "0" "c.956G>T" "r.(?)" "p.(Gly319Val)" ""
"0000307303" "00018053" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Val327=)" ""
"0000336947" "00018053" "10" "610" "-13" "610" "-13" "c.610-13G>A" "r.(=)" "p.(=)" ""
"0000339250" "00018053" "10" "6723" "0" "6723" "0" "c.6723A>G" "r.(?)" "p.(Ser2241=)" ""
"0000339251" "00018053" "10" "4032" "0" "4032" "0" "c.4032A>G" "r.(?)" "p.(Thr1344=)" ""
"0000339252" "00018053" "10" "2268" "0" "2268" "0" "c.2268C>T" "r.(?)" "p.(Asn756=)" ""
"0000339253" "00018053" "10" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(Gly597=)" ""
"0000339254" "00018053" "10" "444" "0" "444" "0" "c.444T>G" "r.(?)" "p.(Leu148=)" ""
"0000341146" "00018053" "10" "3956" "0" "3956" "0" "c.3956C>G" "r.(?)" "p.(Ala1319Gly)" ""
"0000341180" "00018053" "10" "4448" "0" "4448" "0" "c.4448C>T" "r.(?)" "p.(Ala1483Val)" ""
"0000341211" "00018053" "10" "5126" "0" "5126" "0" "c.5126C>T" "r.(?)" "p.(Ala1709Val)" ""
"0000341245" "00018053" "10" "5837" "0" "5837" "0" "c.5837C>A" "r.(?)" "p.(Ala1946Glu)" ""
"0000341753" "00018053" "10" "3436" "0" "3436" "0" "c.3436C>T" "r.(?)" "p.(Arg1146Trp)" ""
"0000341943" "00018053" "10" "4401" "0" "4401" "0" "c.4401G>T" "r.(?)" "p.(Arg1467Ser)" ""
"0000342150" "00018053" "30" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Cys)" ""
"0000342939" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000343615" "00018053" "50" "475" "0" "475" "0" "c.475A>T" "r.(?)" "p.(Asn159Tyr)" ""
"0000343972" "00018053" "10" "5666" "0" "5666" "0" "c.5666A>T" "r.(?)" "p.(Asp1889Val)" ""
"0000344650" "00018053" "10" "6264" "0" "6264" "0" "c.6264G>T" "r.(?)" "p.(Gln2088His)" ""
"0000344911" "00018053" "30" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Gln590Ter)" ""
"0000345115" "00018053" "10" "4019" "0" "4019" "0" "c.4019A>G" "r.(?)" "p.(Glu1340Gly)" ""
"0000345228" "00018053" "10" "6209" "0" "6209" "0" "c.6209A>T" "r.(?)" "p.(Glu2070Val)" ""
"0000345240" "00018053" "10" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Glu2140Lys)" ""
"0000345699" "00018053" "10" "4004" "0" "4004" "0" "c.4004G>T" "r.(?)" "p.(Gly1335Val)" ""
"0000345887" "00018053" "10" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Gly2285Arg)" ""
"0000346041" "00018053" "10" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Arg)" ""
"0000346133" "00018053" "10" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Gly514Ser)" ""
"0000346412" "00018053" "10" "665" "0" "665" "0" "c.665A>C" "r.(?)" "p.(His222Pro)" ""
"0000346417" "00018053" "10" "7004" "0" "7004" "0" "c.7004A>G" "r.(?)" "p.(His2335Arg)" ""
"0000347309" "00018053" "10" "2375" "0" "2375" "0" "c.2375T>C" "r.(?)" "p.(Leu792Pro)" ""
"0000348204" "00018053" "10" "4484" "0" "4484" "0" "c.4484C>G" "r.(?)" "p.(Pro1495Arg)" ""
"0000348292" "00018053" "30" "6673" "0" "6673" "0" "c.6673C>T" "r.(?)" "p.(Pro2225Ser)" ""
"0000349250" "00018053" "10" "335" "0" "335" "0" "c.335C>G" "r.(?)" "p.(Thr112Ser)" ""
"0000349349" "00018053" "10" "5860" "0" "5860" "0" "c.5860A>G" "r.(?)" "p.(Thr1954Ala)" ""
"0000349351" "00018053" "50" "592" "0" "592" "0" "c.592A>G" "r.(?)" "p.(Thr198Ala)" ""
"0000350816" "00018053" "10" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" ""
"0000350817" "00018053" "50" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Gly344Cys)" ""
"0000350818" "00018053" "50" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Pro84Ser)" ""
"0000406017" "00018053" "50" "6118" "0" "6118" "0" "c.6118G>T" "r.(?)" "p.(Glu2040*)" ""
"0000476723" "00018053" "90" "7203" "0" "7203" "0" "c.7203G>C" "r.(?)" "p.(*2401Tyrext*5)" ""
"0000476724" "00018053" "50" "7191" "0" "7191" "0" "c.7191C>G" "r.(?)" "p.(Asp2397Glu)" ""
"0000476725" "00018053" "50" "7132" "0" "7132" "0" "c.7132C>T" "r.(?)" "p.(Leu2378Phe)" ""
"0000476726" "00018053" "50" "6979" "0" "6979" "0" "c.6979G>C" "r.(?)" "p.(Asp2327His)" ""
"0000476727" "00018053" "50" "6932" "0" "6932" "0" "c.6932A>C" "r.(?)" "p.(Gln2311Pro)" ""
"0000476728" "00018053" "10" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Gly2285Arg)" ""
"0000476729" "00018053" "50" "6698" "0" "6698" "0" "c.6698C>A" "r.(?)" "p.(Ala2233Asp)" ""
"0000476730" "00018053" "10" "6596" "0" "6596" "0" "c.6596C>T" "r.(?)" "p.(Pro2199Leu)" ""
"0000476731" "00018053" "50" "6584" "0" "6584" "0" "c.6584G>C" "r.(?)" "p.(Gly2195Ala)" ""
"0000476732" "00018053" "50" "6552" "0" "6552" "0" "c.6552G>T" "r.(?)" "p.(Glu2184Asp)" ""
"0000476733" "00018053" "50" "6548" "0" "6548" "0" "c.6548C>A" "r.(?)" "p.(Pro2183Gln)" ""
"0000476734" "00018053" "10" "6511" "0" "6511" "0" "c.6511G>A" "r.(?)" "p.(Glu2171Lys)" ""
"0000476735" "00018053" "10" "6322" "0" "6322" "0" "c.6322G>A" "r.(?)" "p.(Gly2108Arg)" ""
"0000476736" "00018053" "50" "6271" "0" "6271" "0" "c.6271G>A" "r.(?)" "p.(Glu2091Lys)" ""
"0000476737" "00018053" "10" "6264" "0" "6264" "0" "c.6264G>T" "r.(?)" "p.(Gln2088His)" ""
"0000476738" "00018053" "50" "6229" "0" "6229" "0" "c.6229G>A" "r.(?)" "p.(Glu2077Lys)" ""
"0000476739" "00018053" "10" "6209" "0" "6209" "0" "c.6209A>T" "r.(?)" "p.(Glu2070Val)" ""
"0000476740" "00018053" "50" "5983" "0" "5983" "0" "c.5983C>A" "r.(?)" "p.(Pro1995Thr)" ""
"0000476741" "00018053" "50" "5966" "0" "5966" "0" "c.5966C>T" "r.(?)" "p.(Ala1989Val)" ""
"0000476742" "00018053" "10" "5860" "0" "5860" "0" "c.5860A>G" "r.(?)" "p.(Thr1954Ala)" ""
"0000476743" "00018053" "50" "5839" "0" "5839" "0" "c.5839G>T" "r.(?)" "p.(Ala1947Ser)" ""
"0000476744" "00018053" "50" "5771" "0" "5771" "0" "c.5771C>A" "r.(?)" "p.(Ala1924Asp)" ""
"0000476745" "00018053" "50" "5768" "0" "5768" "0" "c.5768A>G" "r.(?)" "p.(Glu1923Gly)" ""
"0000476746" "00018053" "50" "5762" "0" "5762" "0" "c.5762G>A" "r.(?)" "p.(Ser1921Asn)" ""
"0000476747" "00018053" "50" "5701" "0" "5701" "0" "c.5701C>T" "r.(?)" "p.(Pro1901Ser)" ""
"0000476748" "00018053" "10" "5666" "0" "5666" "0" "c.5666A>T" "r.(?)" "p.(Asp1889Val)" ""
"0000476749" "00018053" "50" "5660" "0" "5660" "0" "c.5660C>T" "r.(?)" "p.(Ser1887Leu)" ""
"0000476750" "00018053" "50" "5659" "0" "5659" "0" "c.5659T>C" "r.(?)" "p.(Ser1887Pro)" ""
"0000476751" "00018053" "50" "5639" "0" "5641" "0" "c.5639_5641del" "r.(?)" "p.(Glu1880del)" ""
"0000476752" "00018053" "10" "5618" "0" "5618" "0" "c.5618A>G" "r.(?)" "p.(Asp1873Gly)" ""
"0000476753" "00018053" "50" "5438" "0" "5438" "0" "c.5438A>G" "r.(?)" "p.(Asn1813Ser)" ""
"0000476754" "00018053" "90" "5401" "0" "5401" "0" "c.5401G>T" "r.(?)" "p.(Gly1801*)" ""
"0000476755" "00018053" "50" "5329" "0" "5329" "0" "c.5329C>T" "r.(?)" "p.(His1777Tyr)" ""
"0000476756" "00018053" "50" "5314" "0" "5314" "0" "c.5314A>G" "r.(?)" "p.(Arg1772Gly)" ""
"0000476757" "00018053" "50" "5132" "0" "5132" "0" "c.5132G>C" "r.(?)" "p.(Gly1711Ala)" ""
"0000476758" "00018053" "10" "5126" "0" "5126" "0" "c.5126C>T" "r.(?)" "p.(Ala1709Val)" ""
"0000476759" "00018053" "50" "5044" "0" "5044" "0" "c.5044C>T" "r.(?)" "p.(Pro1682Ser)" ""
"0000476760" "00018053" "50" "5035" "0" "5035" "0" "c.5035A>G" "r.(?)" "p.(Thr1679Ala)" ""
"0000476761" "00018053" "10" "4837" "0" "4837" "0" "c.4837C>A" "r.(?)" "p.(Leu1613Met)" ""
"0000476762" "00018053" "50" "4835" "0" "4835" "0" "c.4835G>T" "r.(?)" "p.(Gly1612Val)" ""
"0000476763" "00018053" "50" "4769" "0" "4769" "0" "c.4769C>T" "r.(?)" "p.(Pro1590Leu)" ""
"0000476764" "00018053" "90" "4650" "0" "4650" "0" "c.4650T>G" "r.(?)" "p.(Asn1550Lys)" ""
"0000476765" "00018053" "50" "4630" "0" "4630" "0" "c.4630C>T" "r.(?)" "p.(Arg1544Cys)" ""
"0000476766" "00018053" "10" "4484" "0" "4484" "0" "c.4484C>G" "r.(?)" "p.(Pro1495Arg)" ""
"0000476767" "00018053" "10" "4448" "0" "4448" "0" "c.4448C>T" "r.(?)" "p.(Ala1483Val)" ""
"0000476768" "00018053" "50" "4273" "0" "4273" "0" "c.4273G>C" "r.(?)" "p.(Asp1425His)" ""
"0000476769" "00018053" "50" "4247" "0" "4247" "0" "c.4247C>T" "r.(?)" "p.(Pro1416Leu)" ""
"0000476770" "00018053" "50" "4208" "0" "4208" "0" "c.4208G>A" "r.(?)" "p.(Gly1403Glu)" ""
"0000476771" "00018053" "50" "4168" "0" "4168" "0" "c.4168C>T" "r.(?)" "p.(Leu1390Phe)" ""
"0000476772" "00018053" "50" "4150" "0" "4150" "0" "c.4150G>C" "r.(?)" "p.(Gly1384Arg)" ""
"0000476773" "00018053" "50" "4004" "0" "4004" "0" "c.4004G>C" "r.(?)" "p.(Gly1335Ala)" ""
"0000476774" "00018053" "50" "3985" "0" "3986" "0" "c.3985_3986insGAG" "r.(?)" "p.(Glu1328_Glu1329insGly)" ""
"0000476775" "00018053" "50" "3983" "0" "3983" "0" "c.3983A>T" "r.(?)" "p.(Glu1328Val)" ""
"0000476776" "00018053" "50" "3982" "0" "3982" "0" "c.3982G>A" "r.(?)" "p.(Glu1328Lys)" ""
"0000476777" "00018053" "50" "3980" "0" "3980" "0" "c.3980C>T" "r.(?)" "p.(Thr1327Ile)" ""
"0000476778" "00018053" "10" "3978" "0" "3979" "0" "c.3978_3979insGAA" "r.(?)" "p.(Lys1326_Thr1327insGlu)" ""
"0000476779" "00018053" "50" "3971" "0" "3971" "0" "c.3971A>G" "r.(?)" "p.(Glu1324Gly)" ""
"0000476780" "00018053" "90" "3961" "0" "3961" "0" "c.3961C>T" "r.(?)" "p.(Gln1321*)" ""
"0000476781" "00018053" "10" "3956" "0" "3956" "0" "c.3956C>G" "r.(?)" "p.(Ala1319Gly)" ""
"0000476782" "00018053" "90" "3922" "0" "3922" "0" "c.3922G>T" "r.(?)" "p.(Glu1308*)" ""
"0000476783" "00018053" "50" "3652" "0" "3652" "0" "c.3652G>A" "r.(?)" "p.(Ala1218Thr)" ""
"0000476784" "00018053" "50" "3514" "0" "3514" "0" "c.3514C>A" "r.(?)" "p.(Leu1172Ile)" ""
"0000476785" "00018053" "10" "3436" "0" "3436" "0" "c.3436C>T" "r.(?)" "p.(Arg1146Trp)" ""
"0000476786" "00018053" "10" "3340" "0" "3340" "0" "c.3340T>A" "r.(?)" "p.(Ser1114Thr)" ""
"0000476787" "00018053" "50" "3287" "0" "3287" "0" "c.3287G>A" "r.(?)" "p.(Arg1096Gln)" ""
"0000476788" "00018053" "10" "3255" "0" "3255" "0" "c.3255C>G" "r.(?)" "p.(Ile1085Met)" ""
"0000476789" "00018053" "50" "3053" "0" "3053" "0" "c.3053C>A" "r.(?)" "p.(Pro1018His)" ""
"0000476790" "00018053" "90" "3026" "0" "3029" "0" "c.3026_3029del" "r.(?)" "p.(Ala1009Aspfs*61)" ""
"0000476791" "00018053" "50" "3026" "0" "3026" "0" "c.3026C>T" "r.(?)" "p.(Ala1009Val)" ""
"0000476792" "00018053" "50" "3022" "0" "3022" "0" "c.3022C>G" "r.(?)" "p.(Gln1008Glu)" ""
"0000476793" "00018053" "50" "2981" "0" "2981" "0" "c.2981C>G" "r.(?)" "p.(Pro994Arg)" ""
"0000476794" "00018053" "50" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Asn963His)" ""
"0000476795" "00018053" "50" "2869" "0" "2869" "0" "c.2869G>T" "r.(?)" "p.(Val957Phe)" ""
"0000476796" "00018053" "10" "2780" "0" "2780" "0" "c.2780C>A" "r.(?)" "p.(Thr927Asn)" ""
"0000476797" "00018053" "50" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(His877Tyr)" ""
"0000476798" "00018053" "50" "2624" "0" "2624" "0" "c.2624G>A" "r.(?)" "p.(Ser875Asn)" ""
"0000476799" "00018053" "50" "2588" "0" "2588" "0" "c.2588C>A" "r.(?)" "p.(Pro863His)" ""
"0000476800" "00018053" "10" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" ""
"0000476801" "00018053" "50" "2567" "0" "2567" "0" "c.2567C>T" "r.(?)" "p.(Pro856Leu)" ""
"0000476802" "00018053" "50" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Arg822Gln)" ""
"0000476803" "00018053" "50" "2450" "0" "2450" "0" "c.2450C>T" "r.(?)" "p.(Ala817Val)" ""
"0000476804" "00018053" "10" "2441" "0" "2441" "0" "c.2441A>G" "r.(?)" "p.(Glu814Gly)" ""
"0000476805" "00018053" "10" "2375" "0" "2375" "0" "c.2375T>C" "r.(?)" "p.(Leu792Pro)" ""
"0000476806" "00018053" "50" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" ""
"0000476807" "00018053" "50" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Asp747Asn)" ""
"0000476808" "00018053" "50" "2237" "0" "2237" "0" "c.2237C>T" "r.(?)" "p.(Ser746Leu)" ""
"0000476809" "00018053" "90" "2026" "0" "2026" "0" "c.2026A>T" "r.(?)" "p.(Ser676Cys)" ""
"0000476810" "00018053" "50" "1982" "0" "1982" "0" "c.1982C>T" "r.(?)" "p.(Pro661Leu)" ""
"0000476811" "00018053" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658*)" ""
"0000476812" "00018053" "50" "1883" "0" "1883" "0" "c.1883C>A" "r.(?)" "p.(Pro628His)" ""
"0000476813" "00018053" "50" "1857" "0" "1857" "0" "c.1857G>C" "r.(?)" "p.(Trp619Cys)" ""
"0000476814" "00018053" "50" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Thr593Met)" ""
"0000476815" "00018053" "50" "1763" "0" "1763" "0" "c.1763A>G" "r.(?)" "p.(Asp588Gly)" ""
"0000476816" "00018053" "50" "1587" "0" "1587" "0" "c.1587G>C" "r.(?)" "p.(Glu529Asp)" ""
"0000476817" "00018053" "10" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Gly514Ser)" ""
"0000476818" "00018053" "90" "1501" "0" "1501" "0" "c.1501G>T" "r.(?)" "p.(Glu501*)" ""
"0000476819" "00018053" "50" "1301" "0" "1301" "0" "c.1301G>T" "r.(?)" "p.(Cys434Phe)" ""
"0000476820" "00018053" "90" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Gln430*)" ""
"0000476821" "00018053" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Pro373Leu)" ""
"0000476822" "00018053" "50" "1112" "0" "1112" "0" "c.1112G>T" "r.(?)" "p.(Gly371Val)" ""
"0000476823" "00018053" "50" "995" "0" "995" "0" "c.995T>C" "r.(?)" "p.(Val332Ala)" ""
"0000476824" "00018053" "50" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Val332Ile)" ""
"0000476825" "00018053" "50" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Arg314Cys)" ""
"0000476826" "00018053" "50" "728" "0" "728" "0" "c.728G>C" "r.(?)" "p.(Gly243Ala)" ""
"0000476827" "00018053" "10" "670" "0" "670" "0" "c.670G>A" "r.(?)" "p.(Ala224Thr)" ""
"0000476828" "00018053" "10" "665" "0" "665" "0" "c.665A>C" "r.(?)" "p.(His222Pro)" ""
"0000476829" "00018053" "10" "622" "0" "622" "0" "c.622C>A" "r.(?)" "p.(Gln208Lys)" ""
"0000476830" "00018053" "90" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Gln195*)" ""
"0000476831" "00018053" "10" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Cys)" ""
"0000476832" "00018053" "10" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Gly183Ser)" ""
"0000476833" "00018053" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Pro151Ser)" ""
"0000476834" "00018053" "50" "417" "0" "417" "0" "c.417dup" "r.(?)" "p.(Gly140Argfs*10)" ""
"0000476835" "00018053" "50" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Ala138Thr)" ""
"0000476836" "00018053" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Gln135*)" ""
"0000476837" "00018053" "50" "331" "0" "331" "0" "c.331A>G" "r.(?)" "p.(Lys111Glu)" ""
"0000476838" "00018053" "50" "324" "0" "325" "0" "c.324_325insT" "r.(?)" "p.(Pro109Serfs*29)" ""
"0000476839" "00018053" "10" "289" "0" "289" "0" "c.289G>C" "r.(?)" "p.(Glu97Gln)" ""
"0000476840" "00018053" "50" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" ""
"0000476841" "00018053" "50" "166" "0" "166" "0" "c.166C>G" "r.(?)" "p.(Arg56Gly)" ""
"0000476842" "00018053" "50" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Pro32Ser)" ""
"0000476843" "00018053" "10" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Ser26Leu)" ""
"0000476844" "00018053" "50" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Pro11Leu)" ""
"0000476845" "00018053" "90" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Gln9*)" ""
"0000477536" "00018053" "10" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Gly2285Arg)" ""
"0000477537" "00018053" "10" "6511" "0" "6511" "0" "c.6511G>A" "r.(?)" "p.(Glu2171Lys)" ""
"0000477538" "00018053" "50" "6271" "0" "6271" "0" "c.6271G>A" "r.(?)" "p.(Glu2091Lys)" ""
"0000477539" "00018053" "10" "6264" "0" "6264" "0" "c.6264G>T" "r.(?)" "p.(Gln2088His)" ""
"0000477540" "00018053" "10" "6209" "0" "6209" "0" "c.6209A>T" "r.(?)" "p.(Glu2070Val)" ""
"0000477541" "00018053" "10" "5860" "0" "5860" "0" "c.5860A>G" "r.(?)" "p.(Thr1954Ala)" ""
"0000477542" "00018053" "10" "5666" "0" "5666" "0" "c.5666A>T" "r.(?)" "p.(Asp1889Val)" ""
"0000477543" "00018053" "10" "5618" "0" "5618" "0" "c.5618A>G" "r.(?)" "p.(Asp1873Gly)" ""
"0000477544" "00018053" "10" "5126" "0" "5126" "0" "c.5126C>T" "r.(?)" "p.(Ala1709Val)" ""
"0000477545" "00018053" "10" "4484" "0" "4484" "0" "c.4484C>G" "r.(?)" "p.(Pro1495Arg)" ""
"0000477546" "00018053" "10" "4448" "0" "4448" "0" "c.4448C>T" "r.(?)" "p.(Ala1483Val)" ""
"0000477547" "00018053" "50" "3985" "0" "3986" "0" "c.3985_3986insGAG" "r.(?)" "p.(Glu1328_Glu1329insGly)" ""
"0000477548" "00018053" "10" "3978" "0" "3979" "0" "c.3978_3979insGAA" "r.(?)" "p.(Lys1326_Thr1327insGlu)" ""
"0000477549" "00018053" "50" "3971" "0" "3971" "0" "c.3971A>G" "r.(?)" "p.(Glu1324Gly)" ""
"0000477550" "00018053" "10" "3956" "0" "3956" "0" "c.3956C>G" "r.(?)" "p.(Ala1319Gly)" ""
"0000477551" "00018053" "10" "3436" "0" "3436" "0" "c.3436C>T" "r.(?)" "p.(Arg1146Trp)" ""
"0000477552" "00018053" "10" "3255" "0" "3255" "0" "c.3255C>G" "r.(?)" "p.(Ile1085Met)" ""
"0000477553" "00018053" "90" "3026" "0" "3029" "0" "c.3026_3029del" "r.(?)" "p.(Ala1009Aspfs*61)" ""
"0000477554" "00018053" "10" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" ""
"0000477555" "00018053" "10" "2375" "0" "2375" "0" "c.2375T>C" "r.(?)" "p.(Leu792Pro)" ""
"0000477556" "00018053" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658*)" ""
"0000477557" "00018053" "10" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Gly514Ser)" ""
"0000477558" "00018053" "10" "665" "0" "665" "0" "c.665A>C" "r.(?)" "p.(His222Pro)" ""
"0000477559" "00018053" "50" "417" "0" "417" "0" "c.417dup" "r.(?)" "p.(Gly140Argfs*10)" ""
"0000477560" "00018053" "50" "324" "0" "325" "0" "c.324_325insT" "r.(?)" "p.(Pro109Serfs*29)" ""
"0000477561" "00018053" "10" "289" "0" "289" "0" "c.289G>C" "r.(?)" "p.(Glu97Gln)" ""
"0000499708" "00018053" "50" "1112" "0" "1112" "0" "c.1112G>T" "r.(?)" "p.(Gly371Val)" "4"
"0000533356" "00018053" "30" "7143" "0" "7143" "0" "c.7143C>A" "r.(?)" "p.(Leu2381=)" ""
"0000533357" "00018053" "10" "7047" "0" "7047" "0" "c.7047T>C" "r.(?)" "p.(Thr2349=)" ""
"0000533358" "00018053" "30" "7006" "0" "7006" "0" "c.7006G>A" "r.(?)" "p.(Ala2336Thr)" ""
"0000533359" "00018053" "10" "6992" "0" "6992" "0" "c.6992C>T" "r.(?)" "p.(Thr2331Met)" ""
"0000533360" "00018053" "30" "6992" "0" "6992" "0" "c.6992C>T" "r.(?)" "p.(Thr2331Met)" ""
"0000533361" "00018053" "50" "6902" "0" "6902" "0" "c.6902C>G" "r.(?)" "p.(Ser2301Cys)" ""
"0000533362" "00018053" "30" "6780" "0" "6780" "0" "c.6780C>A" "r.(?)" "p.(Gly2260=)" ""
"0000533363" "00018053" "30" "6682" "0" "6682" "0" "c.6682G>A" "r.(?)" "p.(Val2228Ile)" ""
"0000533364" "00018053" "10" "6596" "0" "6596" "0" "c.6596C>T" "r.(?)" "p.(Pro2199Leu)" ""
"0000533365" "00018053" "30" "6566" "0" "6566" "0" "c.6566C>G" "r.(?)" "p.(Ala2189Gly)" ""
"0000533366" "00018053" "10" "6511" "0" "6511" "0" "c.6511G>A" "r.(?)" "p.(Glu2171Lys)" ""
"0000533367" "00018053" "30" "6374" "0" "6374" "0" "c.6374C>A" "r.(?)" "p.(Ala2125Asp)" ""
"0000533368" "00018053" "30" "6237" "0" "6237" "0" "c.6237C>A" "r.(?)" "p.(His2079Gln)" ""
"0000533372" "00018053" "30" "5574" "0" "5642" "0" "c.5574_5642del" "r.(?)" "p.(Asp1859_Gly1881del)" ""
"0000533373" "00018053" "30" "5548" "0" "5548" "0" "c.5548G>A" "r.(?)" "p.(Gly1850Ser)" ""
"0000533374" "00018053" "30" "5421" "0" "5421" "0" "c.5421C>G" "r.(?)" "p.(Gly1807=)" ""
"0000533375" "00018053" "30" "5284" "0" "5284" "0" "c.5284G>A" "r.(?)" "p.(Glu1762Lys)" ""
"0000533376" "00018053" "70" "5206" "0" "5206" "0" "c.5206C>T" "r.(?)" "p.(Gln1736Ter)" ""
"0000533377" "00018053" "90" "5071" "0" "5071" "0" "c.5071C>T" "r.(?)" "p.(Gln1691Ter)" ""
"0000533378" "00018053" "30" "4905" "0" "4905" "0" "c.4905C>T" "r.(?)" "p.(Asp1635=)" ""
"0000533379" "00018053" "30" "4869" "0" "4869" "0" "c.4869C>A" "r.(?)" "p.(Thr1623=)" ""
"0000533380" "00018053" "30" "4789" "0" "4789" "0" "c.4789G>A" "r.(?)" "p.(Gly1597Arg)" ""
"0000533381" "00018053" "10" "4788" "0" "4788" "0" "c.4788C>T" "r.(?)" "p.(Thr1596=)" ""
"0000533382" "00018053" "30" "4725" "0" "4725" "0" "c.4725G>A" "r.(?)" "p.(Glu1575=)" ""
"0000533383" "00018053" "50" "4700" "0" "4700" "0" "c.4700G>C" "r.(?)" "p.(Arg1567Pro)" ""
"0000533384" "00018053" "30" "4602" "0" "4602" "0" "c.4602T>G" "r.(?)" "p.(Leu1534=)" ""
"0000533385" "00018053" "10" "4530" "0" "4530" "0" "c.4530G>A" "r.(?)" "p.(Ala1510=)" ""
"0000533386" "00018053" "30" "4113" "0" "4113" "0" "c.4113G>T" "r.(?)" "p.(Gly1371=)" ""
"0000533388" "00018053" "30" "4012" "0" "4012" "0" "c.4012T>A" "r.(?)" "p.(Leu1338Ile)" ""
"0000533389" "00018053" "10" "4018" "0" "4019" "0" "c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG" "r.(?)" "p.(Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)" ""
"0000533390" "00018053" "30" "4018" "0" "4019" "0" "c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG" "r.(?)" "p.(Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)" ""
"0000533391" "00018053" "10" "4003" "0" "4003" "0" "c.4003G>A" "r.(?)" "p.(Gly1335Arg)" ""
"0000533392" "00018053" "10" "3994" "0" "3994" "0" "c.3994C>A" "r.(?)" "p.(Gln1332Lys)" ""
"0000533393" "00018053" "10" "3993" "0" "3993" "0" "c.3993G>A" "r.(?)" "p.(Leu1331=)" ""
"0000533394" "00018053" "10" "3989" "0" "3989" "0" "c.3989G>T" "r.(?)" "p.(Gly1330Val)" ""
"0000533395" "00018053" "10" "3983" "0" "3984" "0" "c.3983_3984insGGGGACTAAAGTAAT" "r.(?)" "p.(Glu1328_Glu1329insGlyThrLysValIle)" ""
"0000533396" "00018053" "30" "3983" "0" "3984" "0" "c.3983_3984insGGGGACTAAAGTAAT" "r.(?)" "p.(Glu1328_Glu1329insGlyThrLysValIle)" ""
"0000533398" "00018053" "10" "3978" "0" "3979" "0" "c.3978_3979insGAA" "r.(?)" "p.(Lys1326_Thr1327insGlu)" ""
"0000533399" "00018053" "30" "3978" "0" "3979" "0" "c.3978_3979insGAA" "r.(?)" "p.(Lys1326_Thr1327insGlu)" ""
"0000533401" "00018053" "30" "4018" "0" "4019" "0" "c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG" "r.(?)" "p.(Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGlu)" ""
"0000533402" "00018053" "10" "3971" "0" "3971" "0" "c.3971A>G" "r.(?)" "p.(Glu1324Gly)" ""
"0000533403" "00018053" "50" "3956" "0" "3957" "0" "c.3956_3957insAAGAAGAGGG" "r.(?)" "p.(Val1320ArgfsTer10)" ""
"0000533404" "00018053" "30" "3970" "0" "3971" "0" "c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG" "r.(?)" "p.(Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGlu)" ""
"0000533405" "00018053" "30" "3970" "0" "3971" "0" "c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG" "r.(?)" "p.(Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)" ""
"0000533406" "00018053" "50" "3970" "0" "3971" "0" "c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG" "r.(?)" "p.(Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)" ""
"0000533407" "00018053" "30" "3970" "0" "3971" "0" "c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG" "r.(?)" "p.(Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)" ""
"0000533409" "00018053" "30" "3926" "0" "3926" "0" "c.3926G>A" "r.(?)" "p.(Gly1309Glu)" ""
"0000533410" "00018053" "30" "3914" "0" "3914" "0" "c.3914A>C" "r.(?)" "p.(Glu1305Ala)" ""
"0000533411" "00018053" "30" "3854" "0" "3854" "0" "c.3854C>T" "r.(?)" "p.(Ala1285Val)" ""
"0000533412" "00018053" "50" "3773" "0" "3773" "0" "c.3773T>C" "r.(?)" "p.(Phe1258Ser)" ""
"0000533413" "00018053" "50" "3569" "0" "3569" "0" "c.3569C>T" "r.(?)" "p.(Thr1190Met)" ""
"0000533414" "00018053" "10" "3514" "0" "3514" "0" "c.3514C>A" "r.(?)" "p.(Leu1172Ile)" ""
"0000533415" "00018053" "30" "3509" "0" "3509" "0" "c.3509C>T" "r.(?)" "p.(Ser1170Leu)" ""
"0000533416" "00018053" "30" "3465" "0" "3465" "0" "c.3465G>A" "r.(?)" "p.(Lys1155=)" ""
"0000533417" "00018053" "30" "3429" "0" "3429" "0" "c.3429C>G" "r.(?)" "p.(Asp1143Glu)" ""
"0000533418" "00018053" "30" "3303" "0" "3303" "0" "c.3303C>G" "r.(?)" "p.(Pro1101=)" ""
"0000533419" "00018053" "50" "3287" "0" "3287" "0" "c.3287G>A" "r.(?)" "p.(Arg1096Gln)" ""
"0000533420" "00018053" "50" "3263" "0" "3263" "0" "c.3263C>T" "r.(?)" "p.(Ala1088Val)" ""
"0000533421" "00018053" "10" "3255" "0" "3255" "0" "c.3255C>G" "r.(?)" "p.(Ile1085Met)" ""
"0000533422" "00018053" "30" "3200" "0" "3200" "0" "c.3200G>C" "r.(?)" "p.(Gly1067Ala)" ""
"0000533423" "00018053" "30" "3125" "0" "3125" "0" "c.3125T>A" "r.(?)" "p.(Val1042Asp)" ""
"0000533424" "00018053" "30" "3055" "0" "3055" "0" "c.3055G>C" "r.(?)" "p.(Gly1019Arg)" ""
"0000533425" "00018053" "10" "2961" "0" "2961" "0" "c.2961G>C" "r.(?)" "p.(Leu987=)" ""
"0000533426" "00018053" "30" "2931" "0" "2931" "0" "c.2931C>T" "r.(?)" "p.(Asp977=)" ""
"0000533427" "00018053" "10" "2923" "0" "2923" "0" "c.2923T>A" "r.(?)" "p.(Leu975Met)" ""
"0000533428" "00018053" "10" "2899" "0" "2899" "0" "c.2899G>A" "r.(?)" "p.(Glu967Lys)" ""
"0000533429" "00018053" "30" "2899" "0" "2899" "0" "c.2899G>A" "r.(?)" "p.(Glu967Lys)" ""
"0000533430" "00018053" "50" "2873" "0" "2873" "0" "c.2873G>T" "r.(?)" "p.(Arg958Leu)" ""
"0000533431" "00018053" "10" "2850" "0" "2850" "0" "c.2850C>T" "r.(?)" "p.(Arg950=)" ""
"0000533432" "00018053" "30" "2814" "0" "2814" "0" "c.2814G>T" "r.(?)" "p.(Glu938Asp)" ""
"0000533433" "00018053" "50" "2814" "0" "2814" "0" "c.2814G>T" "r.(?)" "p.(Glu938Asp)" ""
"0000533434" "00018053" "30" "2807" "0" "2807" "0" "c.2807G>A" "r.(?)" "p.(Gly936Glu)" ""
"0000533435" "00018053" "30" "2806" "0" "2806" "0" "c.2806G>T" "r.(?)" "p.(Gly936Trp)" ""
"0000533436" "00018053" "30" "2791" "0" "2791" "0" "c.2791G>C" "r.(?)" "p.(Gly931Arg)" ""
"0000533437" "00018053" "10" "2664" "0" "2664" "0" "c.2664G>T" "r.(?)" "p.(Pro888=)" ""
"0000533438" "00018053" "30" "2619" "0" "2619" "0" "c.2619C>T" "r.(?)" "p.(Thr873=)" ""
"0000533439" "00018053" "30" "2499" "0" "2499" "0" "c.2499G>A" "r.(?)" "p.(Pro833=)" ""
"0000533440" "00018053" "50" "2456" "0" "2456" "0" "c.2456G>C" "r.(?)" "p.(Gly819Ala)" ""
"0000533441" "00018053" "10" "2398" "0" "2398" "0" "c.2398C>A" "r.(?)" "p.(Pro800Thr)" ""
"0000533442" "00018053" "30" "2365" "0" "2365" "0" "c.2365G>A" "r.(?)" "p.(Ala789Thr)" ""
"0000533443" "00018053" "30" "2154" "0" "2154" "0" "c.2154C>A" "r.(?)" "p.(Asn718Lys)" ""
"0000533444" "00018053" "50" "2146" "0" "2146" "0" "c.2146T>C" "r.(?)" "p.(Ser716Pro)" ""
"0000533445" "00018053" "30" "2107" "0" "2107" "0" "c.2107C>G" "r.(?)" "p.(Arg703Gly)" ""
"0000533446" "00018053" "10" "1862" "0" "1862" "0" "c.1862C>G" "r.(?)" "p.(Ser621Trp)" ""
"0000533447" "00018053" "50" "1862" "0" "1862" "0" "c.1862C>G" "r.(?)" "p.(Ser621Trp)" ""
"0000533448" "00018053" "10" "1806" "0" "1806" "0" "c.1806G>C" "r.(?)" "p.(Thr602=)" ""
"0000533449" "00018053" "30" "1795" "0" "1795" "0" "c.1795G>A" "r.(?)" "p.(Glu599Lys)" ""
"0000533450" "00018053" "30" "1671" "0" "1671" "0" "c.1671C>T" "r.(?)" "p.(Gly557=)" ""
"0000533451" "00018053" "50" "1554" "0" "1554" "0" "c.1554C>T" "r.(?)" "p.(Gly518=)" ""
"0000533452" "00018053" "10" "1509" "0" "1509" "0" "c.1509C>T" "r.(?)" "p.(Pro503=)" ""
"0000533453" "00018053" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(Asp478=)" ""
"0000533454" "00018053" "10" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(Pro462=)" ""
"0000533455" "00018053" "10" "1317" "0" "1317" "0" "c.1317C>A" "r.(?)" "p.(Gly439=)" ""
"0000533456" "00018053" "30" "1290" "0" "1290" "0" "c.1290G>T" "r.(?)" "p.(Gln430His)" ""
"0000533457" "00018053" "50" "1290" "0" "1290" "0" "c.1290G>T" "r.(?)" "p.(Gln430His)" ""
"0000533459" "00018053" "50" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Gly390Glu)" ""
"0000533460" "00018053" "50" "1069" "0" "1069" "0" "c.1069C>A" "r.(?)" "p.(Pro357Thr)" ""
"0000533461" "00018053" "30" "993" "0" "993" "0" "c.993G>T" "r.(?)" "p.(Leu331=)" ""
"0000533462" "00018053" "10" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" ""
"0000533463" "00018053" "50" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Trp)" ""
"0000533464" "00018053" "30" "774" "0" "774" "0" "c.774G>A" "r.(?)" "p.(Lys258=)" ""
"0000533465" "00018053" "30" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ala209Val)" ""
"0000533466" "00018053" "30" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Val204=)" ""
"0000533468" "00018053" "30" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Cys)" ""
"0000533469" "00018053" "30" "514" "0" "514" "0" "c.514C>G" "r.(?)" "p.(His172Asp)" ""
"0000533470" "00018053" "30" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Arg163=)" ""
"0000533471" "00018053" "50" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Arg153Lys)" ""
"0000533472" "00018053" "10" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000533473" "00018053" "30" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Ala126Val)" ""
"0000533474" "00018053" "10" "326" "0" "327" "0" "c.326_327insT" "r.(?)" "p.(Lys111GlnfsTer27)" ""
"0000533475" "00018053" "50" "326" "0" "327" "0" "c.326_327insT" "r.(?)" "p.(Lys111GlnfsTer27)" ""
"0000533478" "00018053" "50" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Ser105Phe)" ""
"0000533479" "00018053" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Ala92Thr)" ""
"0000533480" "00018053" "50" "220" "0" "220" "0" "c.220C>G" "r.(?)" "p.(Leu74Val)" ""
"0000533481" "00018053" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Arg71=)" ""
"0000533482" "00018053" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Ala52=)" ""
"0000533483" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000533484" "00018053" "50" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Thr31Met)" ""
"0000533485" "00018053" "10" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Pro11Leu)" ""
"0000533488" "00018053" "10" "-123" "0" "-123" "0" "c.-123C>G" "r.(?)" "p.(=)" ""
"0000611370" "00018053" "30" "7173" "0" "7173" "0" "c.7173C>T" "r.(?)" "p.(Asp2391=)" ""
"0000611371" "00018053" "30" "7027" "0" "7027" "0" "c.7027A>G" "r.(?)" "p.(Met2343Val)" ""
"0000611372" "00018053" "30" "6174" "0" "6174" "0" "c.6174G>A" "r.(?)" "p.(Pro2058=)" ""
"0000611373" "00018053" "30" "5265" "0" "5265" "0" "c.5265C>T" "r.(?)" "p.(Asp1755=)" ""
"0000611374" "00018053" "30" "4837" "0" "4837" "0" "c.4837C>A" "r.(?)" "p.(Leu1613Met)" ""
"0000611375" "00018053" "30" "4514" "0" "4514" "0" "c.4514C>T" "r.(?)" "p.(Ser1505Leu)" ""
"0000611376" "00018053" "30" "4323" "0" "4323" "0" "c.4323G>A" "r.(?)" "p.(Pro1441=)" ""
"0000611377" "00018053" "30" "3133" "0" "3133" "0" "c.3133G>A" "r.(?)" "p.(Gly1045Arg)" ""
"0000611378" "00018053" "30" "3026" "0" "3026" "0" "c.3026C>T" "r.(?)" "p.(Ala1009Val)" ""
"0000611379" "00018053" "30" "2973" "0" "2973" "0" "c.2973G>A" "r.(?)" "p.(Glu991=)" ""
"0000611380" "00018053" "30" "2754" "0" "2754" "0" "c.2754G>A" "r.(?)" "p.(Gly918=)" ""
"0000611381" "00018053" "30" "2697" "0" "2697" "0" "c.2697G>A" "r.(?)" "p.(Pro899=)" ""
"0000611382" "00018053" "50" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Ser868Phe)" ""
"0000611383" "00018053" "10" "2583" "0" "2583" "0" "c.2583C>T" "r.(?)" "p.(Pro861=)" ""
"0000611384" "00018053" "10" "2262" "0" "2262" "0" "c.2262G>A" "r.(?)" "p.(Pro754=)" ""
"0000611385" "00018053" "10" "1428" "0" "1428" "0" "c.1428G>A" "r.(?)" "p.(Pro476=)" ""
"0000611386" "00018053" "10" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(Pro462=)" ""
"0000611387" "00018053" "70" "1189" "0" "1189" "0" "c.1189C>T" "r.(?)" "p.(Arg397Ter)" ""
"0000611388" "00018053" "10" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" ""
"0000611390" "00018053" "10" "420" "0" "420" "0" "c.420C>A" "r.(?)" "p.(Gly140=)" ""
"0000611391" "00018053" "50" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Cys)" ""
"0000621974" "00018053" "30" "3615" "0" "3615" "0" "c.3615C>T" "r.(?)" "p.(Ser1205=)" ""
"0000621975" "00018053" "30" "3201" "0" "3201" "0" "c.3201C>T" "r.(?)" "p.(Gly1067=)" ""
"0000621976" "00018053" "30" "2319" "0" "2319" "0" "c.2319G>A" "r.(?)" "p.(Pro773=)" ""
"0000652398" "00018053" "30" "7004" "0" "7004" "0" "c.7004A>G" "r.(?)" "p.(His2335Arg)" ""
"0000652399" "00018053" "30" "5447" "0" "5447" "0" "c.5447G>A" "r.(?)" "p.(Gly1816Asp)" ""
"0000652401" "00018053" "10" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" ""
"0000652402" "00018053" "30" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Ser26Leu)" ""
"0000655955" "00018053" "10" "7143" "0" "7143" "0" "c.7143C>T" "r.(?)" "p.(Leu2381=)" ""
"0000655956" "00018053" "10" "7134" "0" "7134" "0" "c.7134C>A" "r.(?)" "p.(Leu2378=)" ""
"0000655957" "00018053" "30" "6522" "0" "6522" "0" "c.6522A>G" "r.(?)" "p.(Gln2174=)" ""
"0000655958" "00018053" "10" "5554" "0" "5554" "0" "c.5554G>C" "r.(?)" "p.(Glu1852Gln)" ""
"0000655959" "00018053" "30" "5514" "0" "5514" "0" "c.5514G>A" "r.(?)" "p.(Pro1838=)" ""
"0000655961" "00018053" "10" "4675" "0" "4675" "0" "c.4675G>A" "r.(?)" "p.(Glu1559Lys)" ""
"0000655962" "00018053" "30" "3855" "0" "3855" "0" "c.3855G>A" "r.(?)" "p.(Ala1285=)" ""
"0000655963" "00018053" "50" "3617" "0" "3617" "0" "c.3617G>A" "r.(?)" "p.(Gly1206Asp)" ""
"0000655964" "00018053" "30" "3201" "0" "3201" "0" "c.3201C>T" "r.(?)" "p.(Gly1067=)" ""
"0000655965" "00018053" "30" "3190" "0" "3190" "0" "c.3190G>T" "r.(?)" "p.(Ala1064Ser)" ""
"0000655966" "00018053" "30" "2597" "0" "2597" "0" "c.2597G>A" "r.(?)" "p.(Arg866His)" ""
"0000655967" "00018053" "50" "2567" "0" "2567" "0" "c.2567C>T" "r.(?)" "p.(Pro856Leu)" ""
"0000655968" "00018053" "30" "2154" "0" "2154" "0" "c.2154C>A" "r.(?)" "p.(Asn718Lys)" ""
"0000655969" "00018053" "10" "1795" "0" "1795" "0" "c.1795G>A" "r.(?)" "p.(Glu599Lys)" ""
"0000655970" "00018053" "30" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Arg433Cys)" ""
"0000655971" "00018053" "30" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(Thr271=)" ""
"0000655972" "00018053" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Pro124Leu)" ""
"0000655973" "00018053" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Arg56=)" ""
"0000655974" "00018053" "30" "168" "0" "168" "0" "c.168C>A" "r.(?)" "p.(Arg56=)" ""
"0000666150" "00018053" "90" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Trp374*)" ""
"0000669991" "00018053" "30" "5447" "0" "5447" "0" "c.5447G>A" "r.(?)" "p.(Gly1816Asp)" ""
"0000678249" "00018053" "30" "7149" "0" "7149" "0" "c.7149C>A" "r.(?)" "p.(Pro2383=)" ""
"0000678250" "00018053" "30" "5046" "0" "5046" "0" "c.5046C>T" "r.(?)" "p.(Pro1682=)" ""
"0000678251" "00018053" "30" "4906" "0" "4906" "0" "c.4906G>A" "r.(?)" "p.(Glu1636Lys)" ""
"0000678252" "00018053" "50" "4549" "0" "4549" "0" "c.4549A>T" "r.(?)" "p.(Ile1517Phe)" ""
"0000678253" "00018053" "30" "4528" "0" "4528" "0" "c.4528G>A" "r.(?)" "p.(Ala1510Thr)" ""
"0000678254" "00018053" "30" "3054" "0" "3054" "0" "c.3054C>T" "r.(?)" "p.(Pro1018=)" ""
"0000678255" "00018053" "50" "2843" "0" "2843" "0" "c.2843T>C" "r.(?)" "p.(Leu948Pro)" ""
"0000678256" "00018053" "30" "2696" "0" "2696" "0" "c.2696C>A" "r.(?)" "p.(Pro899Gln)" ""
"0000678257" "00018053" "30" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Pro833Leu)" ""
"0000678258" "00018053" "30" "2061" "0" "2061" "0" "c.2061G>C" "r.(?)" "p.(Pro687=)" ""
"0000678259" "00018053" "30" "1872" "0" "1872" "0" "c.1872C>G" "r.(?)" "p.(Ala624=)" ""
"0000678260" "00018053" "30" "1806" "0" "1806" "0" "c.1806G>C" "r.(?)" "p.(Thr602=)" ""
"0000678261" "00018053" "30" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Thr593Met)" ""
"0000678262" "00018053" "50" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Gly344Cys)" ""
"0000678263" "00018053" "50" "953" "0" "953" "0" "c.953A>T" "r.(?)" "p.(Asp318Val)" ""
"0000678264" "00018053" "30" "498" "0" "498" "0" "c.498G>A" "r.(?)" "p.(Gln166=)" ""
"0000684673" "00018053" "50" "4675" "0" "4675" "0" "c.4675G>A" "r.(?)" "p.(Glu1559Lys)" ""
"0000684707" "00018053" "70" "324" "0" "325" "0" "c.324_325insT" "r.(?)" "p.(Pro109Serfs*29)" ""
"0000684770" "00018053" "30" "324" "0" "325" "0" "c.324_325insT" "r.(?)" "p.(Pro109Serfs*29)" ""
"0000690130" "00018053" "30" "3936" "0" "3936" "0" "c.3936dup" "r.(?)" "p.(Glu1313ArgfsTer14)" ""
"0000690131" "00018053" "30" "3934" "0" "3935" "0" "c.3934_3935insAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACA" "r.(?)" "p.(Gly1312GlufsTer26)" ""
"0000690132" "00018053" "30" "3854" "0" "3854" "0" "c.3854C>T" "r.(?)" "p.(Ala1285Val)" ""
"0000690133" "00018053" "50" "318" "0" "318" "0" "c.318T>A" "r.(?)" "p.(Asp106Glu)" ""
"0000721744" "00018053" "30" "6476" "0" "6476" "0" "c.6476C>T" "r.(?)" "p.(Pro2159Leu)" ""
"0000721745" "00018053" "30" "6174" "0" "6174" "0" "c.6174G>A" "r.(?)" "p.(Pro2058=)" ""
"0000721746" "00018053" "50" "4459" "0" "4459" "0" "c.4459G>A" "r.(?)" "p.(Gly1487Ser)" ""
"0000721747" "00018053" "30" "4018" "0" "4019" "0" "c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG" "r.(?)" "p.(Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)" ""
"0000721748" "00018053" "10" "3980" "0" "3981" "0" "c.3980_3981insGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTT" "r.(?)" "p.(Gly1330_Glu1340dup)" ""
"0000721749" "00018053" "50" "3258" "0" "3258" "0" "c.3258G>A" "r.(?)" "p.(Met1086Ile)" ""
"0000721750" "00018053" "10" "2316" "0" "2316" "0" "c.2316G>A" "r.(?)" "p.(Ser772=)" ""
"0000721751" "00018053" "50" "1762" "0" "1762" "0" "c.1762G>T" "r.(?)" "p.(Asp588Tyr)" ""
"0000721752" "00018053" "30" "1702" "0" "1702" "0" "c.1702G>C" "r.(?)" "p.(Ala568Pro)" ""
"0000721753" "00018053" "30" "1491" "0" "1491" "0" "c.1491G>C" "r.(?)" "p.(Gly497=)" ""
"0000721754" "00018053" "30" "1317" "0" "1317" "0" "c.1317C>A" "r.(?)" "p.(Gly439=)" ""
"0000721755" "00018053" "50" "1257" "0" "1258" "0" "c.1257_1258dup" "r.(?)" "p.(Val420GlufsTer71)" ""
"0000721756" "00018053" "30" "672" "0" "672" "0" "c.672C>T" "r.(?)" "p.(Ala224=)" ""
"0000721757" "00018053" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Gln208*)" ""
"0000721758" "00018053" "30" "487" "0" "487" "0" "c.487C>G" "r.(?)" "p.(Arg163Gly)" ""
"0000721759" "00018053" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" ""
"0000721760" "00018053" "90" "242" "0" "243" "0" "c.242_243del" "r.(?)" "p.(Val81Aspfs*8)" ""
"0000721761" "00018053" "30" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Ala10Val)" ""
"0000729763" "00018053" "90" "324" "0" "325" "0" "c.324_325insT" "r.(?)" "p.(Pro109Serfs*29)" ""
"0000729788" "00018053" "70" "280" "0" "280" "0" "c.280G>C" "r.(?)" "p.(Glu94Gln)" ""
"0000730686" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000730687" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000731007" "00018053" "70" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Arg)" ""
"0000731008" "00018053" "70" "1270" "0" "1270" "0" "c.1270A>T" "r.(?)" "p.(Lys424*)" ""
"0000731057" "00018053" "50" "6359" "0" "6359" "0" "c.6359A>G" "r.(?)" "p.(Glu2120Gly)" ""
"0000731495" "00018053" "50" "2918" "0" "2918" "0" "c.2918A>G" "r.(?)" "p.(Tyr973Cys)" ""
"0000732470" "00018053" "50" "4620" "0" "4620" "0" "c.4620G>C" "r.(?)" "p.(Glu1540Asp)" ""
"0000732545" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000759624" "00018053" "50" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Pro113Ser)" ""
"0000759625" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000759626" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000759627" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000759628" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000759629" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000759630" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000759631" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000759632" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000759633" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000759634" "00018053" "70" "2026" "0" "2026" "0" "c.2026A>T" "r.(?)" "p.(Ser676Cys)" "4"
"0000759635" "00018053" "70" "3514" "0" "3514" "0" "c.3514C>A" "r.(?)" "p.(Leu1172Ile)" "4"
"0000759636" "00018053" "90" "3581" "0" "3581" "0" "c.3581C>T" "r.(?)" "p.(Thr1194Met)" "4"
"0000759637" "00018053" "90" "3587" "0" "3587" "0" "c.3587C>T" "r.(?)" "p.(Thr1196Ile)" "4"
"0000759638" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000759639" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000759640" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000759641" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Gly1200Asp)" "4"
"0000759642" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>C" "r.(?)" "p.(Gly1200Ala)" "4"
"0000759643" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>T" "r.(?)" "p.(Gly1200Val)" "2"
"0000759644" "00018053" "90" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Val1201Gly)" "4"
"0000759645" "00018053" "70" "4650" "0" "4650" "0" "c.4650T>G" "r.(?)" "p.(Asn1550Lys)" "4"
"0000759646" "00018053" "70" "6063" "0" "6063" "0" "c.6063del" "r.(?)" "p.(Asp2021GlufsTer3)" "4"
"0000759647" "00018053" "90" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Gly221Arg)" "3"
"0000759946" "00018053" "90" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Arg)" ""
"0000760107" "00018053" "50" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Arg)" ""
"0000763760" "00018053" "50" "5972" "0" "5972" "0" "c.5972G>A" "r.(?)" "p.(Gly1991Glu)" ""
"0000763796" "00018053" "50" "6992" "0" "6992" "0" "c.6992C>T" "r.(?)" "p.(Thr2331Met)" ""
"0000764111" "00018053" "90" "324" "0" "325" "0" "c.324_325insT" "r.324_325insu" "p.(Pro109SerfsTer29)" "2"
"0000764886" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000764891" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000764892" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000765890" "00018053" "70" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" ""
"0000784629" "00018053" "50" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328His)" ""
"0000784635" "00018053" "50" "1201" "0" "1201" "0" "c.1201C>A" "r.(?)" "p.(Pro401Thr)" ""
"0000784639" "00018053" "50" "5508" "0" "5508" "0" "c.5508G>C" "r.(?)" "p.(Glu1836Asp)" ""
"0000785519" "00018053" "90" "3628" "0" "3628" "0" "c.3628T>C" "r.(?)" "p.(Ser1210Pro)" ""
"0000788114" "00018053" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Ter)" ""
"0000788115" "00018053" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Ter)" ""
"0000788116" "00018053" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Ter)" ""
"0000788117" "00018053" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Ter)" ""
"0000788118" "00018053" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Ter)" ""
"0000788119" "00018053" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Ter)" ""
"0000788146" "00018053" "70" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" ""
"0000788323" "00018053" "50" "4610" "0" "4610" "0" "c.4610C>A" "r.(?)" "p.(Ala1537Glu)" "4"
"0000788415" "00018053" "50" "6063" "0" "6063" "0" "c.6063del" "r.(?)" "p.(Asp2021GlufsTer3)" "4"
"0000788423" "00018053" "50" "6586" "0" "6586" "0" "c.6586A>G" "r.(?)" "p.(Ile2196Val)" "4"
"0000788431" "00018053" "50" "6841" "0" "6841" "0" "c.6841C>A" "r.(?)" "p.(Pro2281Thr)" "4"
"0000788478" "00018053" "50" "6063" "0" "6063" "0" "c.6063del" "r.(?)" "p.(Asp2021GlufsTer3)" "4"
"0000789873" "00018053" "50" "326" "0" "327" "0" "c.326_327insT" "r.(?)" "p.(Lys111Glnfs*27)" "2"
"0000792258" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987*)" "4"
"0000794081" "00018053" "70" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658*)" ""
"0000794082" "00018053" "70" "3922" "0" "3922" "0" "c.3922G>T" "r.(?)" "p.(Glu1308*)" ""
"0000794707" "00018053" "70" "553" "0" "553" "0" "c.553G>T" "r.(?)" "p.(Ala185Ser)" ""
"0000803369" "00018053" "50" "6560" "0" "6560" "0" "c.6560G>A" "r.(?)" "p.(Gly2187Glu)" ""
"0000803370" "00018053" "50" "6520" "0" "6520" "0" "c.6520C>A" "r.(?)" "p.(Gln2174Lys)" ""
"0000803371" "00018053" "50" "6147" "0" "6147" "0" "c.6147G>T" "r.(?)" "p.(Gln2049His)" ""
"0000803372" "00018053" "10" "5761" "0" "5761" "0" "c.5761A>C" "r.(?)" "p.(Ser1921Arg)" ""
"0000803373" "00018053" "10" "5584" "0" "5604" "0" "c.5584_5604del" "r.(?)" "p.(Glu1862_Gln1868del)" ""
"0000803374" "00018053" "50" "5004" "0" "5004" "0" "c.5004C>G" "r.(?)" "p.(Ser1668Arg)" ""
"0000803375" "00018053" "30" "4671" "0" "4671" "0" "c.4671G>A" "r.(?)" "p.(Ala1557=)" ""
"0000803376" "00018053" "10" "4662" "0" "4662" "0" "c.4662C>G" "r.(?)" "p.(Asp1554Glu)" ""
"0000803377" "00018053" "30" "4018" "0" "4019" "0" "c.4018_4019insCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC" "r.(?)" "p.(Glu1340delinsAlaSerAsnCysThrProSerSerCysSerProSerSerValLeuValGln)" ""
"0000803378" "00018053" "30" "3971" "0" "3971" "0" "c.3971A>G" "r.(?)" "p.(Glu1324Gly)" ""
"0000803379" "00018053" "30" "3846" "0" "3846" "0" "c.3846G>C" "r.(?)" "p.(Glu1282Asp)" ""
"0000803380" "00018053" "50" "3642" "0" "3642" "0" "c.3642C>A" "r.(?)" "p.(Ser1214Arg)" ""
"0000803381" "00018053" "50" "3580" "0" "3580" "0" "c.3580A>T" "r.(?)" "p.(Thr1194Ser)" ""
"0000803382" "00018053" "30" "3218" "0" "3218" "0" "c.3218G>A" "r.(?)" "p.(Arg1073Gln)" ""
"0000803383" "00018053" "10" "3125" "0" "3125" "0" "c.3125T>A" "r.(?)" "p.(Val1042Asp)" ""
"0000803384" "00018053" "50" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" ""
"0000803385" "00018053" "50" "1933" "0" "1933" "0" "c.1933G>T" "r.(?)" "p.(Ala645Ser)" ""
"0000803386" "00018053" "10" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ala487Val)" ""
"0000803387" "00018053" "50" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Gly390Glu)" ""
"0000803388" "00018053" "50" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314His)" ""
"0000803389" "00018053" "30" "925" "0" "925" "0" "c.925A>C" "r.(?)" "p.(Met309Leu)" ""
"0000803390" "00018053" "30" "610" "-20" "610" "-20" "c.610-20C>T" "r.(=)" "p.(=)" ""
"0000803392" "00018053" "50" "592" "0" "592" "0" "c.592A>G" "r.(?)" "p.(Thr198Ala)" ""
"0000803393" "00018053" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Thr175Ala)" ""
"0000803394" "00018053" "50" "478" "0" "478" "0" "c.478A>G" "r.(?)" "p.(Met160Val)" ""
"0000803395" "00018053" "30" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Ser62=)" ""
"0000811494" "00018053" "50" "4675" "0" "4675" "0" "c.4675G>A" "r.(?)" "p.(Glu1559Lys)" ""
"0000811528" "00018053" "70" "324" "0" "325" "0" "c.324_325insT" "r.(?)" "p.(Pro109SerfsTer29)" ""
"0000811694" "00018053" "70" "56" "0" "56" "0" "c.56C>A" "r.(?)" "p.(Pro19His)" "2"
"0000811695" "00018053" "70" "5470" "0" "5470" "0" "c.5470C>T" "r.(?)" "p.(Gln1824*)" "4"
"0000812344" "00018053" "70" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Trp374*)" "4"
"0000812939" "00018053" "70" "3955" "0" "3956" "0" "c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG" "r.(?)" "p.(Glu1318_Ala1319insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)" ""
"0000815280" "00018053" "50" "5821" "0" "5821" "0" "c.5821C>T" "r.(?)" "p.(Gln1941Ter)" ""
"0000815425" "00018053" "50" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Glu361Lys)" ""
"0000815482" "00018053" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79His)" ""
"0000815560" "00018053" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" ""
"0000815577" "00018053" "50" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Gly183Arg)" ""
"0000815578" "00018053" "50" "2456" "0" "2456" "0" "c.2456G>A" "r.(?)" "p.(Gly819Asp)" ""
"0000815582" "00018053" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" ""
"0000815616" "00018053" "50" "4016" "0" "4016" "0" "c.4016A>T" "r.(?)" "p.(Glu1339Val)" ""
"0000817615" "00018053" "90" "326" "0" "327" "0" "c.326_327insT" "r.(?)" "p.(Lys111Glnfs*27)" "2"
"0000817616" "00018053" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Q2373*)" ""
"0000817617" "00018053" "90" "7117" "0" "7117" "0" "c.7117C>T" "r.(?)" "p.(Gln2373*)" "4"
"0000817618" "00018053" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.( Q2373*)" ""
"0000817684" "00018053" "70" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Arg)" ""
"0000818977" "00018053" "50" "0" "0" "0" "0" "c.(?_-19-1)_(751+1_752-1){0}" "r.?" "p.0?" "_2_3i"
"0000819538" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819539" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819672" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819782" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819916" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819949" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819953" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819954" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819955" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819956" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819957" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819958" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819959" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000819978" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820004" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820005" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820013" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820028" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820029" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820038" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820048" "00018053" "70" "3022" "0" "3022" "0" "c.3022C>T" "r.(?)" "p.(Gln1008*)" ""
"0000820049" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820050" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820058" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820192" "00018053" "70" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Trp369*)" ""
"0000820241" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820312" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820313" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000820314" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000821012" "00018053" "70" "6304" "0" "6304" "0" "c.6304G>T" "r.(?)" "p.(Glu2102*)" ""
"0000822169" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000822170" "00018053" "50" "3255" "0" "3255" "0" "c.3255C>G" "r.(?)" "p.(Ile1085Met)" "4"
"0000822370" "00018053" "70" "1024" "0" "1026" "0" "c.1024_1026delinsCTCCT" "r.(?)" "p.(Arg342Leufs*22)" "4"
"0000822376" "00018053" "70" "196" "0" "196" "0" "c.196G>C" "r.(?)" "p.(Asp66His)" "2"
"0000822740" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000822741" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000822797" "00018053" "70" "3026" "0" "3029" "0" "c.3026_3029del" "r.(?)" "p.(Ala1009Aspfs*61)" ""
"0000822801" "00018053" "70" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658*)" ""
"0000822807" "00018053" "70" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658*)" ""
"0000822813" "00018053" "70" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658*)" ""
"0000822848" "00018053" "70" "1501" "0" "1501" "0" "c.1501G>T" "r.(?)" "p.(Glu501*)" ""
"0000824636" "00018053" "50" "6063" "0" "6063" "0" "c.6063del" "r.(?)" "p.(Asp2021GlufsTer3)" ""
"0000824638" "00018053" "50" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Ter)" ""
"0000824667" "00018053" "50" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Ter)" ""
"0000824715" "00018053" "30" "2026" "0" "2026" "0" "c.2026A>T" "r.(?)" "p.(Ser676Cys)" ""
"0000825492" "00018053" "50" "5626" "0" "5626" "0" "c.5626G>A" "r.(?)" "p.(Ala1876Thr)" ""
"0000825528" "00018053" "50" "3146" "0" "3146" "0" "c.3146A>G" "r.(?)" "p.(Glu1049Gly)" ""
"0000825529" "00018053" "50" "5641" "0" "5641" "0" "c.5641G>T" "r.(?)" "p.(Gly1881Ter)" ""
"0000825530" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825531" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825532" "00018053" "50" "6394" "0" "6394" "0" "c.6394A>G" "r.(?)" "p.(Ile2132Val)" ""
"0000825533" "00018053" "50" "622" "0" "622" "0" "c.622C>A" "r.(?)" "p.(Gln208Lys)" ""
"0000825534" "00018053" "50" "5618" "0" "5618" "0" "c.5618A>T" "r.(?)" "p.(Asp1873Val)" ""
"0000825535" "00018053" "50" "4019" "0" "4019" "0" "c.4019A>G" "r.(?)" "p.(Glu1340Gly)" ""
"0000825536" "00018053" "50" "3053" "0" "3053" "0" "c.3053C>A" "r.(?)" "p.(Pro1018His)" ""
"0000825537" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825538" "00018053" "50" "622" "0" "622" "0" "c.622C>A" "r.(?)" "p.(Gln208Lys)" ""
"0000825539" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825540" "00018053" "50" "4837" "0" "4837" "0" "c.4837C>A" "r.(?)" "p.(Leu1613Met)" ""
"0000825541" "00018053" "50" "6063" "0" "6063" "0" "c.6063del" "r.(?)" "p.(Asp2021GlufsTer3)" ""
"0000825542" "00018053" "50" "5132" "0" "5132" "0" "c.5132G>C" "r.(?)" "p.(Gly1711Ala)" ""
"0000825543" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825544" "00018053" "50" "4019" "0" "4019" "0" "c.4019A>G" "r.(?)" "p.(Glu1340Gly)" ""
"0000825545" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825546" "00018053" "50" "3854" "0" "3854" "0" "c.3854C>T" "r.(?)" "p.(Ala1285Val)" ""
"0000825547" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825548" "00018053" "50" "6431" "0" "6431" "0" "c.6431A>C" "r.(?)" "p.(Glu2144Ala)" ""
"0000825549" "00018053" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Gly519Ser)" ""
"0000825550" "00018053" "50" "67" "0" "67" "0" "c.67C>G" "r.(?)" "p.(Arg23Gly)" ""
"0000825551" "00018053" "50" "4019" "0" "4019" "0" "c.4019A>G" "r.(?)" "p.(Glu1340Gly)" ""
"0000825552" "00018053" "50" "6425" "0" "6425" "0" "c.6425A>T" "r.(?)" "p.(Gln2142Leu)" ""
"0000825553" "00018053" "50" "289" "0" "289" "0" "c.289G>C" "r.(?)" "p.(Glu97Gln)" ""
"0000825554" "00018053" "50" "3053" "0" "3053" "0" "c.3053C>A" "r.(?)" "p.(Pro1018His)" ""
"0000825555" "00018053" "50" "5584" "0" "5584" "0" "c.5584G>A" "r.(?)" "p.(Glu1862Lys)" ""
"0000825556" "00018053" "50" "1505" "0" "1505" "0" "c.1505A>C" "r.(?)" "p.(Asp502Ala)" ""
"0000825557" "00018053" "50" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Pro11Leu)" ""
"0000825558" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825559" "00018053" "50" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" ""
"0000825560" "00018053" "50" "3053" "0" "3053" "0" "c.3053C>A" "r.(?)" "p.(Pro1018His)" ""
"0000825561" "00018053" "50" "3053" "0" "3053" "0" "c.3053C>A" "r.(?)" "p.(Pro1018His)" ""
"0000825562" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825563" "00018053" "50" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000825564" "00018053" "50" "4019" "0" "4019" "0" "c.4019A>G" "r.(?)" "p.(Glu1340Gly)" ""
"0000825574" "00018053" "50" "5648" "0" "5648" "0" "c.5648C>T" "r.(?)" "p.(Gly1881Ter)" ""
"0000825575" "00018053" "50" "5641" "0" "5641" "0" "c.5641G>T" "r.(?)" "p.(Ala1883Val)" ""
"0000825576" "00018053" "50" "670" "0" "670" "0" "c.670G>A" "r.(?)" "p.(Ala224Thr)" ""
"0000825577" "00018053" "50" "6431" "0" "6431" "0" "c.6431A>C" "r.(?)" "p.(Glu2144Ala)" ""
"0000825583" "00018053" "50" "6235" "0" "6235" "0" "c.6235C>T" "r.(?)" "p.(His2079Tyr)" ""
"0000825584" "00018053" "50" "5648" "0" "5648" "0" "c.5648C>T" "r.(?)" "p.(Ala1883Val)" ""
"0000825585" "00018053" "50" "3431" "0" "3431" "0" "c.3431C>T" "r.(?)" "p.(Ser1144Phe)" ""
"0000825586" "00018053" "50" "4273" "0" "4273" "0" "c.4273G>C" "r.(?)" "p.(Asp1425His)" ""
"0000825587" "00018053" "50" "6409" "0" "6409" "0" "c.6409G>A" "r.(?)" "p.(Pro2135Gln)" ""
"0000825588" "00018053" "50" "6404" "0" "6404" "0" "c.6404C>A" "r.(?)" "p.(Ala2137Thr)" ""
"0000825589" "00018053" "50" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493Trp)" ""
"0000825590" "00018053" "50" "5626" "0" "5626" "0" "c.5626G>A" "r.(?)" "p.(Ala1876Thr)" ""
"0000825591" "00018053" "50" "5648" "0" "5648" "0" "c.5648C>T" "r.(?)" "p.(Gly1881Ter)" ""
"0000825592" "00018053" "50" "5641" "0" "5641" "0" "c.5641G>T" "r.(?)" "p.(Ala1883Val)" ""
"0000827185" "00018053" "90" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Trp369*)" "4"
"0000828746" "00018053" "70" "485" "0" "485" "0" "c.485del" "r.(?)" "p.(Pro162Leufs*32)" ""
"0000828839" "00018053" "50" "752" "-4" "752" "-4" "c.752-4C>T" "r.spl?" "p.(?)" ""
"0000828850" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000828865" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000828893" "00018053" "70" "325" "0" "326" "0" "c.325_326insT" "r.(?)" "p.(Pro109Leufs*29)" ""
"0000828904" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000828951" "00018053" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41*)" ""
"0000829831" "00018053" "90" "3026" "0" "3029" "0" "c.3026_3029del" "r.(?)" "p.(Ala1009Aspfs*61)" "4"
"0000829904" "00018053" "90" "324" "0" "325" "0" "c.324_325insT" "r.(?)" "p.(Pro109Serfs*29)" "2"
"0000841307" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000846903" "00018053" "50" "326" "0" "327" "0" "c.326_327insT" "r.(?)" "p.(Lys111Glnfs*27)" ""
"0000851756" "00018053" "30" "4614" "0" "4614" "0" "c.4614G>A" "r.(?)" "p.(Val1538=)" ""
"0000851757" "00018053" "30" "3979" "0" "4026" "0" "c.3979_4026dup" "r.(?)" "p.(Thr1327_Lys1342dup)" ""
"0000851758" "00018053" "30" "3710" "0" "3710" "0" "c.3710A>G" "r.(?)" "p.(Gln1237Arg)" ""
"0000851759" "00018053" "10" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(His440=)" ""
"0000851760" "00018053" "30" "1299" "0" "1299" "0" "c.1299C>T" "r.(?)" "p.(Arg433=)" ""
"0000851761" "00018053" "30" "610" "-9" "610" "-9" "c.610-9C>T" "r.(=)" "p.(=)" ""
"0000851763" "00018053" "10" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140ArgfsTer10)" ""
"0000851764" "00018053" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Glu133Lys)" ""
"0000851765" "00018053" "50" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Pro110Leu)" ""
"0000851766" "00018053" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Arg71=)" ""
"0000861002" "00018053" "30" "4629" "0" "4629" "0" "c.4629A>G" "r.(?)" "p.(Ala1543=)" ""
"0000861003" "00018053" "30" "4522" "0" "4522" "0" "c.4522T>A" "r.(?)" "p.(Cys1508Ser)" ""
"0000861004" "00018053" "30" "4248" "0" "4248" "0" "c.4248G>A" "r.(?)" "p.(Pro1416=)" ""
"0000861005" "00018053" "30" "2977" "0" "2977" "0" "c.2977G>A" "r.(?)" "p.(Asp993Asn)" ""
"0000861006" "00018053" "30" "2632" "0" "2632" "0" "c.2632C>G" "r.(?)" "p.(Gln878Glu)" ""
"0000861007" "00018053" "50" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433His)" ""
"0000861008" "00018053" "50" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433His)" ""
"0000861009" "00018053" "30" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Arg)" ""
"0000861010" "00018053" "50" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Trp)" ""
"0000870364" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870365" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870366" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870367" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870368" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870369" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870370" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870371" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870372" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870373" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870374" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870375" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870376" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870377" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870378" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870379" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870380" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870381" "00018053" "10" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" "4"
"0000870382" "00018053" "10" "4484" "0" "4484" "0" "c.4484C>G" "r.(?)" "p.(Pro1495Arg)" "4"
"0000870383" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870384" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870385" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870386" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870387" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870388" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870389" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870390" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870391" "00018053" "70" "6932" "0" "6932" "0" "c.6932A>C" "r.(?)" "p.(Gln2311Pro)" "4"
"0000870392" "00018053" "30" "2026" "0" "2026" "0" "c.2026A>T" "r.(?)" "p.(Ser676Cys)" "4"
"0000870393" "00018053" "70" "4273" "0" "4273" "0" "c.4273G>C" "r.(?)" "p.(Asp1425His)" "4"
"0000870394" "00018053" "70" "3595" "0" "3595" "0" "c.3595T>C" "r.(?)" "p.(Ser1199Pro)" "4"
"0000870395" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870396" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870397" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870398" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870399" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870400" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870401" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870402" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870403" "00018053" "50" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Pro73Ser)" "2"
"0000870404" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870405" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870406" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Gly1200Asp)" "4"
"0000870407" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Gly1200Asp)" "4"
"0000870408" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870409" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870410" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870411" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870412" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870413" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870414" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870415" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870416" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870417" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870418" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870419" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870420" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870421" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870422" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870423" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870424" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870425" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870426" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870427" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870428" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870429" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870430" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870431" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870432" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870433" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870434" "00018053" "90" "3581" "0" "3581" "0" "c.3581C>T" "r.(?)" "p.(Thr1194Met)" "4"
"0000870435" "00018053" "90" "3587" "0" "3587" "0" "c.3587C>T" "r.(?)" "p.(Thr1196Ile)" "4"
"0000870436" "00018053" "90" "3593" "0" "3593" "0" "c.3593C>T" "r.(?)" "p.(Ser1198Phe)" "4"
"0000870437" "00018053" "90" "3593" "0" "3593" "0" "c.3593C>T" "r.(?)" "p.(Ser1198Phe)" "4"
"0000870438" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870439" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870440" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870441" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870442" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870443" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870444" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870445" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870446" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870447" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Gly1200Asp)" "4"
"0000870448" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Gly1200Asp)" "4"
"0000870449" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>C" "r.(?)" "p.(Gly1200Ala)" "4"
"0000870450" "00018053" "90" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Val1201Gly)" "4"
"0000870451" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870452" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870453" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870454" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870455" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870456" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Gly1200Asp)" "4"
"0000870457" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>C" "r.(?)" "p.(Gly1200Ala)" "4"
"0000870458" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870459" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870460" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870461" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870462" "00018053" "90" "3581" "0" "3581" "0" "c.3581C>T" "r.(?)" "p.(Thr1194Met)" "4"
"0000870463" "00018053" "90" "3587" "0" "3587" "0" "c.3587C>T" "r.(?)" "p.(Thr1196Ile)" "4"
"0000870464" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870465" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870466" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870467" "00018053" "90" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Val1201Gly)" "4"
"0000870468" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870469" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870470" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870471" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Gly1200Asp)" "4"
"0000870472" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870473" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870474" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870475" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870476" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870477" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870478" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870479" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870480" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870481" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870482" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870483" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870484" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870485" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870486" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870487" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870488" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870489" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870490" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870491" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870492" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870493" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870494" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870495" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870496" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870497" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870498" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870499" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870500" "00018053" "90" "3599" "0" "3599" "0" "c.3599G>T" "r.(?)" "p.(Gly1200Val)" "4"
"0000870501" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870502" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870503" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870504" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870505" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870506" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870507" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870508" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870509" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870510" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870511" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870512" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870513" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870514" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870515" "00018053" "70" "5524" "0" "5524" "0" "c.5524G>C" "r.(?)" "p.(Gly1842Arg)" "4"
"0000870516" "00018053" "70" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" "4"
"0000870517" "00018053" "70" "324" "0" "325" "0" "c.324_325insT" "r.(?)" "p.(Pro109Serfs*29)" "2"
"0000870518" "00018053" "70" "5524" "0" "5524" "0" "c.5524G>C" "r.(?)" "p.(Gly1842Arg)" "4"
"0000870519" "00018053" "70" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" "4"
"0000870520" "00018053" "70" "324" "0" "325" "0" "c.324_325insT" "r.(?)" "p.(Pro109Serfs*29)" "2"
"0000870521" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870522" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870523" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870524" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870525" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870526" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870527" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870528" "00018053" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000870529" "00018053" "90" "3596" "0" "3596" "0" "c.3596C>G" "r.(?)" "p.(Ser1199Cys)" "4"
"0000870530" "00018053" "90" "3593" "0" "3593" "0" "c.3593C>T" "r.(?)" "p.(Ser1198Phe)" "4"
"0000870531" "00018053" "90" "3593" "0" "3593" "0" "c.3593C>T" "r.(?)" "p.(Ser1198Phe)" "4"
"0000873542" "00018053" "70" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Pro11Leu)" ""
"0000877234" "00018053" "50" "2365" "0" "2365" "0" "c.2365G>T" "r.(?)" "p.(Ala789Ser)" ""
"0000881446" "00018053" "50" "2880" "0" "2880" "0" "c.2880G>C" "r.(?)" "p.(Trp960Cys)" ""
"0000881463" "00018053" "50" "3642" "0" "3642" "0" "c.3642C>A" "r.(?)" "p.(Ser1214Arg)" ""
"0000881802" "00018053" "70" "5595" "0" "6277" "0" "c.5595_6277del" "r.(?)" "p.(Glu1866Glyfs*29)" "4"
"0000888101" "00018053" "70" "6520" "0" "6520" "0" "c.6520C>T" "r.(?)" "p.(Gln2174*)" ""
"0000888102" "00018053" "30" "5793" "0" "5793" "0" "c.5793C>T" "r.(?)" "p.(Asp1931=)" ""
"0000888103" "00018053" "10" "5574" "0" "5642" "0" "c.5574_5642del" "r.(?)" "p.(Asp1859_Gly1881del)" ""
"0000888104" "00018053" "30" "5016" "0" "5016" "0" "c.5016C>G" "r.(?)" "p.(Pro1672=)" ""
"0000888105" "00018053" "30" "5013" "0" "5013" "0" "c.5013C>T" "r.(?)" "p.(Ser1671=)" ""
"0000888106" "00018053" "10" "4953" "0" "4953" "0" "c.4953G>A" "r.(?)" "p.(Ala1651=)" ""
"0000888107" "00018053" "30" "4689" "0" "4689" "0" "c.4689C>T" "r.(?)" "p.(Asp1563=)" ""
"0000888108" "00018053" "30" "4486" "0" "4486" "0" "c.4486A>C" "r.(?)" "p.(Thr1496Pro)" ""
"0000888109" "00018053" "30" "3956" "0" "3957" "0" "c.3956_3957insAAGAAGAGGG" "r.(?)" "p.(Val1320ArgfsTer10)" ""
"0000888110" "00018053" "10" "3955" "0" "3955" "0" "c.3955G>A" "r.(?)" "p.(Ala1319Thr)" ""
"0000888111" "00018053" "50" "3905" "0" "3905" "0" "c.3905A>C" "r.(?)" "p.(Gln1302Pro)" ""
"0000888112" "00018053" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Arg345=)" ""
"0000888113" "00018053" "10" "501" "0" "501" "0" "c.501A>G" "r.(?)" "p.(Thr167=)" ""
"0000896441" "00018053" "50" "752" "-4" "752" "-4" "c.752-4C>T" "r.spl?" "p.?" ""
"0000896453" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000896521" "00018053" "70" "325" "0" "326" "0" "c.325_326insT" "r.(?)" "p.(Pro109LeufsTer29)" ""
"0000896578" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000896581" "00018053" "70" "485" "0" "485" "0" "c.485delC" "r.(?)" "p.(Pro162LeufsTer32)" ""
"0000896582" "00018053" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Ter)" ""
"0000896600" "00018053" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000896745" "00018053" "70" "3413" "0" "3414" "0" "c.3413_3414del" "r.(?)" "p.(Lys1138Serfs*24)" ""
"0000905971" "00018053" "50" "791" "0" "791" "0" "c.791C>T" "r.(?)" "p.(Ser264Leu)" ""
"0000912856" "00018053" "10" "6812" "0" "6812" "0" "c.6812C>G" "r.(?)" "p.(Pro2271Arg)" ""
"0000912857" "00018053" "30" "4832" "0" "4832" "0" "c.4832G>A" "r.(?)" "p.(Arg1611Gln)" ""
"0000912858" "00018053" "10" "4440" "0" "4440" "0" "c.4440G>A" "r.(?)" "p.(Pro1480=)" ""
"0000912859" "00018053" "30" "4105" "0" "4105" "0" "c.4105G>A" "r.(?)" "p.(Glu1369Lys)" ""
"0000912860" "00018053" "10" "3961" "0" "3961" "0" "c.3961C>G" "r.(?)" "p.(Gln1321Glu)" ""
"0000912861" "00018053" "50" "3641" "0" "3641" "0" "c.3641G>C" "r.(?)" "p.(Ser1214Thr)" ""
"0000912862" "00018053" "10" "2899" "0" "2899" "0" "c.2899G>A" "r.(?)" "p.(Glu967Lys)" ""
"0000912863" "00018053" "30" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Gly761Arg)" ""
"0000912864" "00018053" "10" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493Gln)" ""
"0000912865" "00018053" "30" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Glu361Lys)" ""
"0000915816" "00018053" "90" "330" "0" "330" "0" "c.330dup" "r.(?)" "p.(Lys111Glnfs*27)" "2"
"0000915903" "00018053" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658*)" "4"
"0000916003" "00018053" "50" "5530" "0" "5590" "0" "c.5530_5590del" "r.(?)" "p.(Ala1844Lysfs*11)" "4"
"0000916004" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987*)" "4"
"0000916196" "00018053" "70" "610" "-1" "751" "1" "c.(609+1_610-1)_(751+1_752-1)del" "r.?" "p.(Val204Glyfs*11)" ""
"0000916197" "00018053" "70" "610" "0" "751" "0" "c.610_751del" "r.spl?" "p.(Val204Glyfs*11)" "3"
"0000916372" "00018053" "50" "2074" "0" "2074" "0" "c.2074C>T" "r.(?)" "p.(Arg692Trp)" "4"
"0000916373" "00018053" "70" "5860" "0" "5896" "0" "c.5860_5896del" "r.(?)" "p.(Thr1954Glnfs*12)" "4"
"0000916395" "00018053" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Arg)" "2"
"0000917289" "00018053" "50" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Met65Thr)" "2"
"0000924807" "00018053" "30" "4482" "0" "4482" "0" "c.4482A>G" "r.(?)" "p.(Gln1494=)" ""
"0000924808" "00018053" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(Thr683=)" ""
"0000924809" "00018053" "30" "1152" "0" "1152" "0" "c.1152C>G" "r.(?)" "p.(Pro384=)" ""
"0000929407" "00018053" "30" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(=)" ""
"0000948993" "00018053" "50" "6086" "0" "6086" "0" "c.6086C>A" "r.(?)" "p.(Ser2029*)" ""
"0000948994" "00018053" "30" "5618" "0" "5618" "0" "c.5618A>T" "r.(?)" "p.(Asp1873Val)" ""
"0000948995" "00018053" "30" "5138" "0" "5138" "0" "c.5138C>A" "r.(?)" "p.(Thr1713Asn)" ""
"0000948996" "00018053" "30" "4797" "0" "4797" "0" "c.4797G>T" "r.(?)" "p.(Leu1599=)" ""
"0000948997" "00018053" "30" "4478" "0" "4478" "0" "c.4478C>T" "r.(?)" "p.(Ala1493Val)" ""
"0000948998" "00018053" "30" "2697" "0" "2697" "0" "c.2697G>A" "r.(?)" "p.(Pro899=)" ""
"0000948999" "00018053" "70" "2480" "0" "2480" "0" "c.2480C>G" "r.(?)" "p.(Ser827*)" ""
"0000949000" "00018053" "30" "793" "0" "793" "0" "c.793C>G" "r.(?)" "p.(Arg265Gly)" ""
"0000958054" "00018053" "90" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Trp374Ter)" ""
"0000958162" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000958210" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000958212" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000958213" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000958230" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000958241" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000958406" "00018053" "50" "6299" "0" "6299" "0" "c.6299G>C" "r.(?)" "p.(Gly2100Ala)" ""
"0000958407" "00018053" "50" "945" "0" "945" "0" "c.945G>A" "r.(?)" "p.(Met315Ile)" ""
"0000958426" "00018053" "90" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Ter)" ""
"0000958453" "00018053" "70" "5815" "0" "5815" "0" "c.5815G>T" "r.(?)" "p.(Glu1939Ter)" ""
"0000958507" "00018053" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" ""
"0000958511" "00018053" "70" "-20" "10500" "21161" "0" "c.-20+10500_*13958del" "r.0?" "p.0?" ""
"0000958554" "00018053" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" ""
"0000958569" "00018053" "50" "2873" "0" "2873" "0" "c.2873G>A" "r.(?)" "p.(Arg958His)" ""
"0000958570" "00018053" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" ""
"0000958594" "00018053" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000958617" "00018053" "70" "4150" "0" "4150" "0" "c.4150G>T" "r.(?)" "p.(Gly1384Ter)" ""
"0000958618" "00018053" "50" "4354" "0" "4354" "0" "c.4354G>A" "r.(?)" "p.(Glu1452Lys)" ""
"0000958651" "00018053" "90" "326" "0" "327" "0" "c.326_327insT" "r.(?)" "p.(Lys111GlnfsTer27)" ""
"0000958652" "00018053" "50" "5884" "0" "5884" "0" "c.5884G>C" "r.(?)" "p.(Glu1962Gln)" ""
"0000958665" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" ""
"0000958674" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000958830" "00018053" "50" "2882" "0" "2882" "0" "c.2882T>C" "r.(?)" "p.(Leu961Pro)" ""
"0000959002" "00018053" "50" "430" "0" "432" "0" "c.430_432del" "r.(?)" "p.(Ser144del)" ""
"0000959025" "00018053" "50" "3595" "0" "3595" "0" "c.3595T>G" "r.(?)" "p.(Ser1199Ala)" ""
"0000959033" "00018053" "50" "5606" "0" "5606" "0" "c.5606C>G" "r.(?)" "p.(Pro1869Arg)" ""
"0000959085" "00018053" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" ""
"0000959103" "00018053" "50" "498" "0" "498" "0" "c.498G>C" "r.(?)" "p.(Gln166His)" ""
"0000959108" "00018053" "70" "2316" "0" "2327" "0" "c.2316_2327delinsACCGGCCCCAA" "r.(?)" "p.(Ile776AsnfsTer153)" ""
"0000959148" "00018053" "50" "7037" "0" "7037" "0" "c.7037A>C" "r.(?)" "p.(Glu2346Ala)" ""
"0000959180" "00018053" "50" "4486" "0" "4486" "0" "c.4486A>C" "r.(?)" "p.(Thr1496Pro)" ""
"0000959181" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" ""
"0000959257" "00018053" "70" "5821" "0" "5821" "0" "c.5821C>T" "r.(?)" "p.(Gln1941Ter)" ""
"0000959337" "00018053" "50" "1682" "0" "1682" "0" "c.1682C>A" "r.(?)" "p.(Ala561Asp)" ""
"0000959338" "00018053" "50" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" ""
"0000959339" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" ""
"0000959391" "00018053" "70" "5788" "0" "5788" "0" "c.5788G>T" "r.(?)" "p.(Glu1930Ter)" ""
"0000959416" "00018053" "50" "5264" "0" "5264" "0" "c.5264A>G" "r.(?)" "p.(Asp1755Gly)" ""
"0000959417" "00018053" "50" "6656" "0" "6656" "0" "c.6656A>G" "r.(?)" "p.(Glu2219Gly)" ""
"0000959430" "00018053" "50" "2644" "0" "2644" "0" "c.2644C>G" "r.(?)" "p.(Arg882Gly)" ""
"0000959997" "00018053" "10" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Thr31Met)" ""
"0000964759" "00018053" "30" "4275" "0" "4275" "0" "c.4275C>A" "r.(?)" "p.(Asp1425Glu)" ""
"0000964768" "00018053" "50" "2732" "0" "2732" "0" "c.2732G>T" "r.(?)" "p.(Ser911Ile)" ""
"0000964769" "00018053" "30" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(=)" ""
"0000964771" "00018053" "30" "2441" "0" "2441" "0" "c.2441A>G" "r.(?)" "p.(Glu814Gly)" ""
"0000964772" "00018053" "30" "2238" "0" "2238" "0" "c.2238G>A" "r.(?)" "p.(Ser746=)" ""
"0000964776" "00018053" "50" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Asp)" ""
"0000977970" "00018053" "50" "7051" "0" "7051" "0" "c.7051G>T" "r.(?)" "p.(Glu2351*)" ""
"0000977971" "00018053" "30" "5646" "0" "5646" "0" "c.5646G>T" "r.(?)" "p.(Glu1882Asp)" ""
"0000977972" "00018053" "30" "5618" "0" "5618" "0" "c.5618A>G" "r.(?)" "p.(Asp1873Gly)" ""
"0000977973" "00018053" "50" "5598" "0" "5598" "0" "c.5598G>T" "r.(?)" "p.(Glu1866Asp)" ""
"0000977976" "00018053" "30" "4021" "0" "4021" "0" "c.4021del" "r.(?)" "p.(Thr1341Leufs*16)" ""
"0000977977" "00018053" "50" "3922" "0" "3927" "0" "c.3922_3927del" "r.(?)" "p.(Glu1308_Gly1309del)" ""
"0000977978" "00018053" "30" "3514" "0" "3514" "0" "c.3514C>A" "r.(?)" "p.(Leu1172Ile)" ""
"0000977979" "00018053" "50" "2941" "0" "2941" "0" "c.2941G>C" "r.(?)" "p.(Gly981Arg)" ""
"0000986567" "00018053" "70" "1509" "0" "1509" "0" "c.1509del" "r.(?)" "p.(Gly504AlafsTer4)" "4"
"0000986568" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000986569" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000986570" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000986571" "00018053" "50" "3595" "0" "3595" "0" "c.3595T>G" "r.(?)" "p.(Ser1199Ala)" "4"
"0000986572" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000986573" "00018053" "70" "3384" "0" "3389" "0" "c.3384_3389delinsGAGG" "r.(?)" "p.(Phe1128LeufsTer34)" "4"
"0000986574" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000986575" "00018053" "90" "5308" "0" "5308" "0" "c.5308C>T" "r.(?)" "p.(Gln1770Ter)" "4"
"0000986576" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000986577" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000986578" "00018053" "90" "3509" "0" "3509" "0" "c.3509C>A" "r.(?)" "p.(Ser1170Ter)" "4"
"0000986579" "00018053" "50" "2872" "0" "2872" "0" "c.2872C>T" "r.(?)" "p.(Arg958Cys)" "4"
"0000986580" "00018053" "50" "3599" "0" "3599" "0" "c.3599G>T" "r.(?)" "p.(Gly1200Val)" "4"
"0000986581" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000986582" "00018053" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" "2"
"0000986760" "00018053" "50" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Cys)" "2"
"0000986762" "00018053" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Arg)" "2"
"0000986957" "00018053" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" "2"
"0000986958" "00018053" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" "2"
"0000986959" "00018053" "50" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" "2"
"0000987038" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" ""
"0000987060" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" ""
"0000987149" "00018053" "90" "326" "0" "327" "0" "c.326_327insT" "r.(?)" "p.(Lys111GlnfsTer27)" ""
"0000987219" "00018053" "70" "6118" "0" "6118" "0" "c.6118G>T" "r.(?)" "p.(Glu2040Ter)" ""
"0000987243" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" ""
"0000987247" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" ""
"0000987339" "00018053" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" ""
"0000987341" "00018053" "90" "6118" "0" "6118" "0" "c.6118G>T" "r.(?)" "p.(Glu2040Ter)" ""
"0000996840" "00018053" "30" "6645" "0" "6645" "0" "c.6645G>A" "r.(?)" "p.(=)" ""
"0000996841" "00018053" "30" "5278" "0" "5278" "0" "c.5278C>T" "r.(?)" "p.(Leu1760Phe)" ""
"0000996842" "00018053" "30" "4906" "0" "4906" "0" "c.4906G>A" "r.(?)" "p.(Glu1636Lys)" ""
"0000996843" "00018053" "50" "4825" "0" "4825" "0" "c.4825C>T" "r.(?)" "p.(Arg1609Cys)" ""
"0000996844" "00018053" "30" "4732" "0" "4734" "0" "c.4732_4734dup" "r.(?)" "p.(Lys1578dup)" ""
"0000996845" "00018053" "30" "3934" "0" "3935" "0" "c.3934_3935insAGGGGGTGCAGTTAGAGGAAACTAAAACA" "r.(?)" "p.(Gly1312Glufs*21)" ""
"0000996846" "00018053" "30" "3935" "0" "3937" "0" "c.3935_3937del" "r.(?)" "p.(Gly1312del)" ""
"0000996847" "00018053" "50" "3922" "0" "3927" "0" "c.3922_3927del" "r.(?)" "p.(Glu1308_Gly1309del)" ""
"0000996848" "00018053" "30" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Pro934Leu)" ""
"0000996849" "00018053" "30" "2191" "0" "2191" "0" "c.2191G>C" "r.(?)" "p.(Asp731His)" ""
"0000996850" "00018053" "50" "803" "0" "803" "0" "c.803C>A" "r.(?)" "p.(Pro268Gln)" ""
"0000996851" "00018053" "30" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Trp)" ""
"0000996853" "00018053" "90" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Pro110Leu)" ""
"0000996854" "00018053" "30" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Pro11Leu)" ""
"0001014399" "00018053" "30" "4150" "0" "4150" "0" "c.4150G>C" "r.(?)" "p.(Gly1384Arg)" ""
"0001025469" "00018053" "10" "4019" "0" "4019" "0" "c.4019A>G" "r.(?)" "p.(Glu1340Gly)" ""
"0001025470" "00018053" "30" "3027" "0" "3027" "0" "c.3027G>A" "r.(?)" "p.(=)" ""
"0001036674" "00018053" "10" "4019" "0" "4019" "0" "c.4019A>G" "r.(?)" "p.(Glu1340Gly)" ""
"0001036675" "00018053" "50" "2645" "0" "2645" "0" "c.2645G>A" "r.(?)" "p.(Arg882Gln)" ""
"0001036676" "00018053" "30" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Gly557Asp)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 637
"{{screeningid}}" "{{variantid}}"
"0000059784" "0000090915"
"0000060088" "0000090900"
"0000060089" "0000090901"
"0000060090" "0000090902"
"0000060091" "0000090903"
"0000060092" "0000090904"
"0000060093" "0000090905"
"0000060094" "0000090906"
"0000060094" "0000090907"
"0000060095" "0000090908"
"0000060096" "0000090909"
"0000060097" "0000090910"
"0000060097" "0000759624"
"0000060098" "0000090911"
"0000060099" "0000090912"
"0000060100" "0000090913"
"0000060101" "0000090914"
"0000060102" "0000090916"
"0000060103" "0000090917"
"0000060104" "0000090918"
"0000060202" "0000091176"
"0000060202" "0000091177"
"0000145015" "0000788323"
"0000177888" "0000406017"
"0000234015" "0000476723"
"0000234016" "0000476724"
"0000234017" "0000476725"
"0000234018" "0000476726"
"0000234019" "0000476727"
"0000234020" "0000476728"
"0000234021" "0000476729"
"0000234022" "0000476730"
"0000234023" "0000476731"
"0000234024" "0000476732"
"0000234025" "0000476733"
"0000234026" "0000476734"
"0000234027" "0000476735"
"0000234028" "0000476736"
"0000234029" "0000476737"
"0000234030" "0000476738"
"0000234031" "0000476739"
"0000234032" "0000476740"
"0000234033" "0000476741"
"0000234034" "0000476742"
"0000234035" "0000476743"
"0000234036" "0000476744"
"0000234037" "0000476745"
"0000234038" "0000476746"
"0000234039" "0000476747"
"0000234040" "0000476748"
"0000234041" "0000476749"
"0000234042" "0000476750"
"0000234043" "0000476751"
"0000234044" "0000476752"
"0000234045" "0000476753"
"0000234046" "0000476754"
"0000234047" "0000476755"
"0000234048" "0000476756"
"0000234049" "0000476757"
"0000234050" "0000476758"
"0000234051" "0000476759"
"0000234052" "0000476760"
"0000234053" "0000476761"
"0000234054" "0000476762"
"0000234055" "0000476763"
"0000234056" "0000476764"
"0000234057" "0000476765"
"0000234058" "0000476766"
"0000234059" "0000476767"
"0000234060" "0000476768"
"0000234061" "0000476769"
"0000234062" "0000476770"
"0000234063" "0000476771"
"0000234064" "0000476772"
"0000234065" "0000476773"
"0000234066" "0000476774"
"0000234067" "0000476775"
"0000234068" "0000476776"
"0000234069" "0000476777"
"0000234070" "0000476778"
"0000234071" "0000476779"
"0000234072" "0000476780"
"0000234073" "0000476781"
"0000234074" "0000476782"
"0000234075" "0000476783"
"0000234076" "0000476784"
"0000234077" "0000476785"
"0000234078" "0000476786"
"0000234079" "0000476787"
"0000234080" "0000476788"
"0000234081" "0000476789"
"0000234082" "0000476790"
"0000234083" "0000476791"
"0000234084" "0000476792"
"0000234085" "0000476793"
"0000234086" "0000476794"
"0000234087" "0000476795"
"0000234088" "0000476796"
"0000234089" "0000476797"
"0000234090" "0000476798"
"0000234091" "0000476799"
"0000234092" "0000476800"
"0000234093" "0000476801"
"0000234094" "0000476802"
"0000234095" "0000476803"
"0000234096" "0000476804"
"0000234097" "0000476805"
"0000234098" "0000476806"
"0000234099" "0000476807"
"0000234100" "0000476808"
"0000234101" "0000476809"
"0000234102" "0000476810"
"0000234103" "0000476811"
"0000234104" "0000476812"
"0000234105" "0000476813"
"0000234106" "0000476814"
"0000234107" "0000476815"
"0000234108" "0000476816"
"0000234109" "0000476817"
"0000234110" "0000476818"
"0000234111" "0000476819"
"0000234112" "0000476820"
"0000234113" "0000476821"
"0000234114" "0000476822"
"0000234115" "0000476823"
"0000234116" "0000476824"
"0000234117" "0000476825"
"0000234118" "0000476826"
"0000234119" "0000476827"
"0000234120" "0000476828"
"0000234121" "0000476829"
"0000234122" "0000476830"
"0000234123" "0000476831"
"0000234124" "0000476832"
"0000234125" "0000476833"
"0000234126" "0000476834"
"0000234127" "0000476835"
"0000234128" "0000476836"
"0000234129" "0000476837"
"0000234130" "0000476838"
"0000234131" "0000476839"
"0000234132" "0000476840"
"0000234133" "0000476841"
"0000234134" "0000476842"
"0000234135" "0000476843"
"0000234136" "0000476844"
"0000234137" "0000476845"
"0000234828" "0000477536"
"0000234829" "0000477537"
"0000234830" "0000477538"
"0000234831" "0000477539"
"0000234832" "0000477540"
"0000234833" "0000477541"
"0000234834" "0000477542"
"0000234835" "0000477543"
"0000234836" "0000477544"
"0000234837" "0000477545"
"0000234838" "0000477546"
"0000234839" "0000477547"
"0000234840" "0000477548"
"0000234841" "0000477549"
"0000234842" "0000477550"
"0000234843" "0000477551"
"0000234844" "0000477552"
"0000234845" "0000477553"
"0000234846" "0000477554"
"0000234847" "0000477555"
"0000234848" "0000477556"
"0000234849" "0000477557"
"0000234850" "0000477558"
"0000234851" "0000477559"
"0000234852" "0000477560"
"0000234853" "0000477561"
"0000246883" "0000499708"
"0000295709" "0000652398"
"0000295710" "0000652399"
"0000295712" "0000652401"
"0000295713" "0000652402"
"0000302796" "0000666150"
"0000306303" "0000669991"
"0000309800" "0000684673"
"0000309800" "0000684707"
"0000309868" "0000684770"
"0000332508" "0000729763"
"0000332508" "0000729788"
"0000333262" "0000730686"
"0000333263" "0000730687"
"0000333420" "0000731057"
"0000333432" "0000731007"
"0000333433" "0000731008"
"0000333732" "0000731495"
"0000334581" "0000732470"
"0000334613" "0000732545"
"0000359982" "0000759625"
"0000359983" "0000759626"
"0000359984" "0000759627"
"0000359985" "0000759628"
"0000359986" "0000759629"
"0000359987" "0000759630"
"0000359988" "0000759631"
"0000359989" "0000759632"
"0000359990" "0000759643"
"0000359991" "0000759638"
"0000359993" "0000759639"
"0000359994" "0000759640"
"0000359996" "0000759644"
"0000359997" "0000759633"
"0000359998" "0000759636"
"0000359998" "0000759637"
"0000359998" "0000759646"
"0000359999" "0000759634"
"0000359999" "0000759635"
"0000360001" "0000759642"
"0000360001" "0000759645"
"0000360005" "0000759641"
"0000360006" "0000759647"
"0000360219" "0000759946"
"0000360219" "0000760107"
"0000363233" "0000763760"
"0000363237" "0000763796"
"0000363456" "0000764111"
"0000364124" "0000764886"
"0000364129" "0000764891"
"0000364130" "0000764892"
"0000364948" "0000765890"
"0000373901" "0000784635"
"0000373913" "0000784639"
"0000373972" "0000784629"
"0000374699" "0000785519"
"0000376506" "0000788114"
"0000376507" "0000788115"
"0000376508" "0000788116"
"0000376509" "0000788117"
"0000376510" "0000788118"
"0000376511" "0000788119"
"0000376538" "0000788146"
"0000376616" "0000788415"
"0000376617" "0000788423"
"0000376619" "0000788431"
"0000376626" "0000788478"
"0000377511" "0000789873"
"0000379158" "0000792258"
"0000380862" "0000794081"
"0000380862" "0000794082"
"0000381308" "0000794707"
"0000384726" "0000811494"
"0000384726" "0000811528"
"0000384876" "0000811694"
"0000384876" "0000811695"
"0000385339" "0000812344"
"0000385800" "0000812939"
"0000387396" "0000815280"
"0000387399" "0000815425"
"0000387401" "0000815577"
"0000387401" "0000815578"
"0000387403" "0000815582"
"0000387448" "0000815560"
"0000387451" "0000815482"
"0000387482" "0000815616"
"0000388841" "0000817615"
"0000388842" "0000817616"
"0000388843" "0000817617"
"0000388844" "0000817618"
"0000388890" "0000817684"
"0000389743" "0000818977"
"0000390193" "0000819538"
"0000390194" "0000819539"
"0000390327" "0000819672"
"0000390437" "0000819782"
"0000390571" "0000819916"
"0000390604" "0000819949"
"0000390608" "0000819953"
"0000390609" "0000819954"
"0000390610" "0000819955"
"0000390611" "0000819956"
"0000390612" "0000819957"
"0000390613" "0000819958"
"0000390614" "0000819959"
"0000390633" "0000819978"
"0000390659" "0000820004"
"0000390660" "0000820005"
"0000390668" "0000820013"
"0000390683" "0000820028"
"0000390684" "0000820029"
"0000390693" "0000820038"
"0000390703" "0000820048"
"0000390704" "0000820049"
"0000390705" "0000820050"
"0000390713" "0000820058"
"0000390847" "0000820192"
"0000390896" "0000820241"
"0000390967" "0000820312"
"0000390968" "0000820313"
"0000390969" "0000820314"
"0000391276" "0000821012"
"0000392069" "0000822169"
"0000392069" "0000822170"
"0000392177" "0000822370"
"0000392182" "0000822376"
"0000392449" "0000822740"
"0000392450" "0000822741"
"0000392497" "0000822797"
"0000392501" "0000822801"
"0000392501" "0000822848"
"0000392507" "0000822807"
"0000392513" "0000822813"
"0000393814" "0000824636"
"0000393816" "0000824638"
"0000393845" "0000824667"
"0000393893" "0000824715"
"0000394562" "0000825492"
"0000394562" "0000825574"
"0000394562" "0000825575"
"0000394563" "0000825576"
"0000394563" "0000825577"
"0000394598" "0000825528"
"0000394598" "0000825583"
"0000394599" "0000825529"
"0000394599" "0000825584"
"0000394600" "0000825530"
"0000394600" "0000825585"
"0000394601" "0000825531"
"0000394601" "0000825586"
"0000394602" "0000825532"
"0000394602" "0000825587"
"0000394602" "0000825588"
"0000394603" "0000825533"
"0000394603" "0000825589"
"0000394604" "0000825534"
"0000394604" "0000825590"
"0000394604" "0000825591"
"0000394604" "0000825592"
"0000394605" "0000825535"
"0000394606" "0000825536"
"0000394607" "0000825537"
"0000394608" "0000825538"
"0000394609" "0000825539"
"0000394610" "0000825540"
"0000394611" "0000825541"
"0000394612" "0000825542"
"0000394613" "0000825543"
"0000394614" "0000825544"
"0000394615" "0000825545"
"0000394616" "0000825546"
"0000394617" "0000825547"
"0000394618" "0000825548"
"0000394619" "0000825549"
"0000394620" "0000825550"
"0000394621" "0000825551"
"0000394622" "0000825552"
"0000394623" "0000825553"
"0000394624" "0000825554"
"0000394625" "0000825555"
"0000394626" "0000825556"
"0000394627" "0000825557"
"0000394628" "0000825558"
"0000394629" "0000825559"
"0000394630" "0000825560"
"0000394631" "0000825561"
"0000394632" "0000825562"
"0000394633" "0000825563"
"0000394634" "0000825564"
"0000395783" "0000827185"
"0000397000" "0000828746"
"0000397000" "0000828951"
"0000397093" "0000828839"
"0000397104" "0000828850"
"0000397119" "0000828865"
"0000397147" "0000828893"
"0000397158" "0000828904"
"0000397750" "0000829831"
"0000397827" "0000829904"
"0000405231" "0000841307"
"0000409699" "0000846903"
"0000412946" "0000870364"
"0000412947" "0000870365"
"0000412948" "0000870366"
"0000412949" "0000870367"
"0000412950" "0000870368"
"0000412951" "0000870369"
"0000412952" "0000870370"
"0000412953" "0000870371"
"0000412954" "0000870372"
"0000412955" "0000870373"
"0000412956" "0000870374"
"0000412957" "0000870375"
"0000412958" "0000870376"
"0000412959" "0000870377"
"0000412960" "0000870378"
"0000412961" "0000870379"
"0000412962" "0000870380"
"0000412962" "0000870381"
"0000412962" "0000870382"
"0000412963" "0000870383"
"0000412964" "0000870384"
"0000412965" "0000870385"
"0000412966" "0000870386"
"0000412967" "0000870387"
"0000412968" "0000870388"
"0000412969" "0000870389"
"0000412970" "0000870390"
"0000412971" "0000870391"
"0000412972" "0000870392"
"0000412973" "0000870393"
"0000412974" "0000870394"
"0000412975" "0000870395"
"0000412976" "0000870396"
"0000412977" "0000870397"
"0000412978" "0000870398"
"0000412979" "0000870399"
"0000412980" "0000870400"
"0000412981" "0000870401"
"0000412982" "0000870402"
"0000412983" "0000870403"
"0000412984" "0000870404"
"0000412985" "0000870405"
"0000412986" "0000870406"
"0000412987" "0000870407"
"0000412988" "0000870408"
"0000412989" "0000870409"
"0000412990" "0000870410"
"0000412991" "0000870411"
"0000412992" "0000870412"
"0000412993" "0000870413"
"0000412994" "0000870414"
"0000412995" "0000870415"
"0000412996" "0000870416"
"0000412997" "0000870417"
"0000412998" "0000870418"
"0000412999" "0000870419"
"0000413000" "0000870420"
"0000413001" "0000870421"
"0000413002" "0000870422"
"0000413003" "0000870423"
"0000413004" "0000870424"
"0000413005" "0000870425"
"0000413006" "0000870426"
"0000413007" "0000870427"
"0000413008" "0000870428"
"0000413009" "0000870429"
"0000413010" "0000870430"
"0000413011" "0000870431"
"0000413012" "0000870432"
"0000413013" "0000870433"
"0000413014" "0000870434"
"0000413014" "0000870435"
"0000413015" "0000870436"
"0000413016" "0000870437"
"0000413017" "0000870438"
"0000413018" "0000870439"
"0000413019" "0000870440"
"0000413020" "0000870441"
"0000413021" "0000870442"
"0000413022" "0000870443"
"0000413023" "0000870444"
"0000413024" "0000870445"
"0000413025" "0000870446"
"0000413026" "0000870447"
"0000413027" "0000870448"
"0000413028" "0000870449"
"0000413029" "0000870450"
"0000413030" "0000870451"
"0000413031" "0000870452"
"0000413032" "0000870453"
"0000413033" "0000870454"
"0000413034" "0000870455"
"0000413035" "0000870456"
"0000413036" "0000870457"
"0000413037" "0000870458"
"0000413038" "0000870459"
"0000413039" "0000870460"
"0000413040" "0000870461"
"0000413041" "0000870462"
"0000413041" "0000870463"
"0000413042" "0000870464"
"0000413043" "0000870465"
"0000413044" "0000870466"
"0000413045" "0000870467"
"0000413046" "0000870468"
"0000413047" "0000870469"
"0000413048" "0000870470"
"0000413049" "0000870471"
"0000413050" "0000870472"
"0000413051" "0000870473"
"0000413052" "0000870474"
"0000413053" "0000870475"
"0000413054" "0000870476"
"0000413055" "0000870477"
"0000413056" "0000870478"
"0000413057" "0000870479"
"0000413058" "0000870480"
"0000413059" "0000870481"
"0000413060" "0000870482"
"0000413061" "0000870483"
"0000413062" "0000870484"
"0000413063" "0000870485"
"0000413064" "0000870486"
"0000413065" "0000870487"
"0000413066" "0000870488"
"0000413067" "0000870489"
"0000413068" "0000870490"
"0000413069" "0000870491"
"0000413070" "0000870492"
"0000413071" "0000870493"
"0000413072" "0000870494"
"0000413073" "0000870495"
"0000413074" "0000870496"
"0000413075" "0000870497"
"0000413076" "0000870498"
"0000413077" "0000870499"
"0000413078" "0000870500"
"0000413079" "0000870501"
"0000413080" "0000870502"
"0000413081" "0000870503"
"0000413082" "0000870504"
"0000413083" "0000870505"
"0000413084" "0000870506"
"0000413085" "0000870507"
"0000413086" "0000870508"
"0000413087" "0000870509"
"0000413088" "0000870510"
"0000413089" "0000870511"
"0000413090" "0000870512"
"0000413091" "0000870513"
"0000413092" "0000870514"
"0000413093" "0000870515"
"0000413093" "0000870516"
"0000413093" "0000870517"
"0000413094" "0000870518"
"0000413094" "0000870519"
"0000413094" "0000870520"
"0000413095" "0000870521"
"0000413096" "0000870522"
"0000413097" "0000870523"
"0000413098" "0000870524"
"0000413099" "0000870525"
"0000413100" "0000870526"
"0000413101" "0000870527"
"0000413102" "0000870528"
"0000413103" "0000870529"
"0000413104" "0000870530"
"0000413105" "0000870531"
"0000415685" "0000873542"
"0000417530" "0000877234"
"0000421028" "0000881446"
"0000421028" "0000881463"
"0000421186" "0000881802"
"0000421698" "0000896441"
"0000421705" "0000896453"
"0000421747" "0000896521"
"0000421784" "0000896578"
"0000421786" "0000896581"
"0000421786" "0000896582"
"0000421800" "0000896600"
"0000421903" "0000896745"
"0000428264" "0000905971"
"0000430923" "0000915816"
"0000430985" "0000915903"
"0000431055" "0000916003"
"0000431055" "0000916004"
"0000431186" "0000916196"
"0000431186" "0000916197"
"0000431293" "0000916372"
"0000431293" "0000916373"
"0000431308" "0000916395"
"0000431953" "0000917289"
"0000448502" "0000958406"
"0000448502" "0000958407"
"0000448542" "0000958426"
"0000448568" "0000958054"
"0000448578" "0000958453"
"0000448676" "0000958162"
"0000448676" "0000958507"
"0000448682" "0000958511"
"0000448724" "0000958210"
"0000448724" "0000958554"
"0000448726" "0000958212"
"0000448727" "0000958213"
"0000448744" "0000958230"
"0000448744" "0000958569"
"0000448744" "0000958570"
"0000448755" "0000958241"
"0000448791" "0000958594"
"0000448844" "0000958617"
"0000448844" "0000958618"
"0000448879" "0000958651"
"0000448879" "0000958652"
"0000448899" "0000958665"
"0000448907" "0000958674"
"0000448907" "0000959085"
"0000448919" "0000959103"
"0000448922" "0000959108"
"0000448948" "0000959148"
"0000448969" "0000959180"
"0000448969" "0000959181"
"0000449042" "0000959257"
"0000449063" "0000958830"
"0000449137" "0000959337"
"0000449137" "0000959338"
"0000449137" "0000959339"
"0000449186" "0000959391"
"0000449202" "0000959416"
"0000449202" "0000959417"
"0000449212" "0000959430"
"0000449235" "0000959002"
"0000449258" "0000959025"
"0000449266" "0000959033"
"0000449581" "0000959997"
"0000452243" "0000986760"
"0000452243" "0000986762"
"0000452584" "0000986567"
"0000452585" "0000986568"
"0000452585" "0000986957"
"0000452586" "0000986569"
"0000452586" "0000986958"
"0000452587" "0000986570"
"0000452588" "0000986571"
"0000452589" "0000986572"
"0000452590" "0000986573"
"0000452591" "0000986574"
"0000452592" "0000986575"
"0000452593" "0000986576"
"0000452593" "0000986959"
"0000452594" "0000986577"
"0000452595" "0000986578"
"0000452596" "0000986579"
"0000452597" "0000986580"
"0000452598" "0000986581"
"0000452599" "0000986582"
"0000452693" "0000987038"
"0000452715" "0000987060"
"0000452804" "0000987149"
"0000452874" "0000987219"
"0000452898" "0000987243"
"0000452902" "0000987247"
"0000452929" "0000987339"
"0000452939" "0000987341"