### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIAA1549) # 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}}" "KIAA1549" "KIAA1549" "7" "q34" "unknown" "NG_032965.2" "UD_134848821129" "" "https://www.LOVD.nl/KIAA1549" "" "1" "22219" "57670" "613344" "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/KIAA1549_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-09-24 00:00:00" "00006" "2020-11-25 19:05:18" "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}}" "00010546" "KIAA1549" "transcript variant 2" "002" "NM_001164665.1" "" "NP_001158137.1" "" "" "" "-49" "12378" "5853" "138666064" "138516126" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05703" "RP86" "retinitis pigmentosa, type 86 (RP86)" "AR" "618613" "" "" "" "00006" "2020-02-26 09:54:29" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KIAA1549" "05703" ## Individuals ## Do not remove or alter this header ## ## Count = 86 "{{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}}" "00059793" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00173729" "" "" "" "2" "" "02230" "016894" "" "F" "yes" "Iran" "" "0" "" "" "" "Family A-II:2" "00173730" "" "" "00173729" "1" "" "02230" "017684" "" "M" "yes" "Iran" "" "0" "" "" "" "Family A-II:1" "00173731" "" "" "" "1" "" "02230" "DNA16-09835" "" "M" "no" "Netherlands" "" "0" "" "" "" "Family B-II:1" "00173872" "" "" "" "1" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP191" "00232867" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232868" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232869" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232870" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232871" "" "" "" "24" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232872" "" "" "" "300" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232873" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232874" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232875" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232876" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232877" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232878" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232879" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232880" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232881" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232882" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232883" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232884" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232885" "" "" "" "47" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232886" "" "" "" "8" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232887" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232888" "" "" "" "339" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232889" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232890" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232891" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232892" "" "" "" "336" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232893" "" "" "" "337" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232894" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232895" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1198 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232896" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232897" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232898" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232899" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232900" "" "" "" "110" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232901" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232902" "" "" "" "265" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232903" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232904" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232905" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232906" "" "" "" "185" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232907" "" "" "" "13" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232908" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232909" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232910" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232911" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232912" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232913" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232914" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232915" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233722" "" "" "" "19" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233723" "" "" "" "43" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233724" "" "" "" "45" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233725" "" "" "" "45" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233726" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233727" "" "" "" "19" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233728" "" "" "" "11" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00289068" "" "" "" "2" "" "00006" "{PMID:de Bruijn 2018:30120214}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "" "FamAPatII1" "00289069" "" "" "00289068" "1" "" "00006" "{PMID:de Bruijn 2018:30120214}" "PatII2" "F" "" "Iran" "" "0" "" "" "" "FamAPatII2" "00289070" "" "" "" "1" "" "00006" "{PMID:de Bruijn 2018:30120214}" "2-generation family, unaffected parents" "M" "" "Netherlands" "" "0" "" "" "" "FamBPatII1" "00333483" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "ZBL-33" "00334420" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-001" "00368355" "" "" "" "1" "" "01695" "{PMID:Xu 2014:24938718}" "Younger brother affected as well" "M" "yes" "China" "" "0" "" "" "China" "RP005" "00372624" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP209" "00372633" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP144" "00372659" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP377" "00372687" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP288" "00372691" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP235" "00372694" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP301" "00372699" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP374" "00372713" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP244" "00372735" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP196" "00372740" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP262" "00372747" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP368" "00375433" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#028" "00377525" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE70" "F" "no" "Japan" "" "0" "" "" "Asian" "EYE70" "00377529" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE121" "F" "no" "Japan" "" "0" "" "" "Asian" "EYE121" "00389528" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 329, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "812" "00400083" "" "" "" "1" "" "00000" "{PMID:Ng 2019:30948794}" "proband; pedigree patient numbers differ from table numbers" "F" "" "China" "" "0" "" "" "" "F3-II-6" "00429603" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00443879" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "FamEPatIII2" "00443880" "" "" "00443879" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "brother" "M" "yes" "Turkey" "9d" "0" "" "" "" "FamEPatIII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 86 "{{individualid}}" "{{diseaseid}}" "00059793" "00112" "00173729" "04214" "00173730" "04214" "00173731" "04214" "00173872" "04214" "00232867" "04214" "00232868" "04214" "00232869" "04214" "00232870" "04214" "00232871" "04214" "00232872" "04214" "00232873" "04214" "00232874" "04214" "00232875" "04214" "00232876" "04214" "00232877" "04214" "00232878" "04214" "00232879" "04214" "00232880" "04214" "00232881" "04214" "00232882" "04214" "00232883" "04214" "00232884" "04214" "00232885" "04214" "00232886" "04214" "00232887" "04214" "00232888" "04214" "00232889" "04214" "00232890" "04214" "00232891" "04214" "00232892" "04214" "00232893" "04214" "00232894" "04214" "00232895" "04214" "00232896" "04214" "00232897" "04214" "00232898" "04214" "00232899" "04214" "00232900" "04214" "00232901" "04214" "00232902" "04214" "00232903" "04214" "00232904" "04214" "00232905" "04214" "00232906" "04214" "00232907" "04214" "00232908" "04214" "00232909" "04214" "00232910" "04214" "00232911" "04214" "00232912" "04214" "00232913" "04214" "00232914" "04214" "00232915" "04214" "00233722" "04214" "00233723" "04214" "00233724" "04214" "00233725" "04214" "00233726" "04214" "00233727" "04214" "00233728" "04214" "00289068" "04214" "00289069" "04214" "00289070" "04214" "00333483" "04214" "00334420" "04214" "00368355" "04214" "00372624" "04214" "00372633" "04214" "00372659" "04214" "00372687" "04214" "00372691" "04214" "00372694" "04214" "00372699" "04214" "00372713" "04214" "00372735" "04214" "00372740" "04214" "00372747" "04214" "00375433" "04214" "00377525" "04214" "00377529" "04214" "00389528" "04214" "00400083" "05415" "00429603" "00112" "00443879" "06906" "00443880" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 04214, 05415, 05703, 06906 ## Count = 27 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000046285" "00112" "00059793" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000138725" "04214" "00173872" "02449" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "RP-38" "retinitis pigmentosa" "0000222700" "04214" "00289068" "00006" "Familial, autosomal recessive" "38y" "cortical cataracts, severely attenuated retinal vessels, retinal pigment epithelium atrophy with bone spicule and nummular pigmentation periphery, preserved posterior pole, absence optic disc pallor; visual acuity right 20/40, left 20/50; spherical equivalent right −4.38, left −5.25" "08y" "" "night blindness" "" "" "" "" "RP86" "retinitis pigmentosa" "0000222701" "04214" "00289069" "00006" "Familial, autosomal recessive" "53y" "pseudophakia, attenuated retinal vessels, severe retinal pigment epithelium both eyes, with recognisable foveal island, moderate optic disc pallor, bone spicule and nummular pigmentations, white epiretinal changes and old Coats-like exudative vasculopathy inferior quadrants both eyes; visual acuity right 20/400, left 20/400; spherical equivalent right −6.50, left −7.25; 32y-ERG scotopic non-recordable, photopic non-recordable; 48y-Goldmann perimetry constricted visual field, central residue <5 degree" "28y" "" "night blindness" "" "" "" "" "RP86" "retinitis pigmentosa" "0000222702" "04214" "00289070" "00006" "Familial, autosomal recessive" "04y" "clear lens, attenuated vessels, midperipheral bone spicule and nummular pigmentation, waxy pallor optic discs, cystoid macular oedema (right eye>left); visual acuity right 20/60, left 20/20; spherical equivalent right −2.00, left −2.13; ERG scotopic severely reduced, photopic moderately reduced; Goldmann perimetry right eye midperipheral ring scotoma, left eye partial midperipheral ring scotoma. visual field affected temporal>nasal both eyes" "45y" "" "night blindness" "" "" "" "" "RP86" "retinitis pigmentosa" "0000251668" "04214" "00333483" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000252509" "04214" "00334420" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000263693" "04214" "00368355" "01695" "Unknown" "" "At the age of 46, the visual acuity was 0.2/0.01 (OD/OS). The fundus showed: attenuated retinal arteries;pigment bone spicule-like;no foveal reflex. ERG response of the rods was: not available and of the cones was not available." "43y" "" "poor vision" "" "" "" "" "" "retinitis pigmentosa" "0000267903" "04214" "00372624" "00000" "Isolated (sporadic)" "41y" "see paper; ..." "31y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000267912" "04214" "00372633" "00000" "Familial, autosomal dominant" "5y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000267938" "04214" "00372659" "00000" "Familial, autosomal recessive" "33y" "see paper; ..." "17y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000267966" "04214" "00372687" "00000" "Familial, X-linked" "23y" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000267970" "04214" "00372691" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000267973" "04214" "00372694" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000267978" "04214" "00372699" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000267992" "04214" "00372713" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000268014" "04214" "00372735" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000268019" "04214" "00372740" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000268026" "04214" "00372747" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000270647" "04214" "00375433" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000272675" "04214" "00377525" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" "0000272679" "04214" "00377529" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" "0000283069" "04214" "00389528" "00000" "Familial, autosomal recessive" "20y" "age at genetic diagnosis mentioned" "" "18y" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "0000293124" "05415" "00400083" "00000" "Familial, autosomal recessive" "" "progressive night blindness and mild to severe hearing impairment, which indicates the diagnosis of USH2; the fundus abnormalities, electroretinography: flattening in the rod and cone responses; optical coherence tomography: reduced photoreceptor layer thickness" "" "" "" "" "" "" "" "Usher syndrome type 2" "" "0000320475" "00112" "00429603" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000333156" "06906" "00443879" "00006" "Familial, autosomal recessive" "16m" "see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus" "" "" "" "" "" "" "" "DEE89" "West syndrome" "0000333157" "06906" "00443880" "00006" "Familial, autosomal recessive" "9d" "see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage" "" "" "" "" "" "" "" "DEE89" "" ## Screenings ## Do not remove or alter this header ## ## Count = 86 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059780" "00059793" "1" "00039" "00008" "2012-09-24 14:29:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000174620" "00173729" "1" "02230" "02230" "2018-07-30 16:06:12" "" "" "SEQ-NG" "DNA" "" "" "0000174621" "00173730" "1" "02230" "02230" "2018-07-30 16:11:55" "" "" "SEQ-NG" "DNA" "" "" "0000174622" "00173731" "1" "02230" "02230" "2018-07-30 16:15:13" "" "" "SEQ-NG" "DNA" "" "" "0000174762" "00173872" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" "" "0000233966" "00232867" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233967" "00232868" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233968" "00232869" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233969" "00232870" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233970" "00232871" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233971" "00232872" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233972" "00232873" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233973" "00232874" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233974" "00232875" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233975" "00232876" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233976" "00232877" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233977" "00232878" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233978" "00232879" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233979" "00232880" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233980" "00232881" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233981" "00232882" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233982" "00232883" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233983" "00232884" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233984" "00232885" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233985" "00232886" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233986" "00232887" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233987" "00232888" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233988" "00232889" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233989" "00232890" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233990" "00232891" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233991" "00232892" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233992" "00232893" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233993" "00232894" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233994" "00232895" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233995" "00232896" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233996" "00232897" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233997" "00232898" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233998" "00232899" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233999" "00232900" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234000" "00232901" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234001" "00232902" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234002" "00232903" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234003" "00232904" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234004" "00232905" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234005" "00232906" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234006" "00232907" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234007" "00232908" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234008" "00232909" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234009" "00232910" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234010" "00232911" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234011" "00232912" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234012" "00232913" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234013" "00232914" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234014" "00232915" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234821" "00233722" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234822" "00233723" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234823" "00233724" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234824" "00233725" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234825" "00233726" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234826" "00233727" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234827" "00233728" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000290238" "00289068" "1" "00006" "00006" "2020-02-28 19:36:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290239" "00289069" "1" "00006" "00006" "2020-02-28 19:45:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290240" "00289070" "1" "00006" "00006" "2020-02-28 19:54:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000334708" "00333483" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" "" "0000335649" "00334420" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000369583" "00368355" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000373856" "00372624" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373865" "00372633" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373891" "00372659" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373919" "00372687" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373923" "00372691" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373926" "00372694" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373931" "00372699" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373945" "00372713" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373967" "00372735" "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" "0000373979" "00372747" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376630" "00375433" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000378728" "00377525" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ" "DNA" "blood" "Targeted next-generation sequencing" "0000378732" "00377529" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ" "DNA" "blood" "Targeted next-generation sequencing" "0000390771" "00389528" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000401326" "00400083" "1" "00000" "03840" "2022-01-24 14:27:52" "" "" "SEQ-NG-I" "DNA" "blood" "Whole exome sequencing" "0000431016" "00429603" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000445376" "00443879" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445377" "00443880" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{geneid}}" "0000059780" "KIAA1549" "0000174762" "MERTK" "0000233966" "KIAA1549" "0000233967" "KIAA1549" "0000233968" "KIAA1549" "0000233969" "KIAA1549" "0000233970" "KIAA1549" "0000233971" "KIAA1549" "0000233972" "KIAA1549" "0000233973" "KIAA1549" "0000233974" "KIAA1549" "0000233975" "KIAA1549" "0000233976" "KIAA1549" "0000233977" "KIAA1549" "0000233978" "KIAA1549" "0000233979" "KIAA1549" "0000233980" "KIAA1549" "0000233981" "KIAA1549" "0000233982" "KIAA1549" "0000233983" "KIAA1549" "0000233984" "KIAA1549" "0000233985" "KIAA1549" "0000233986" "KIAA1549" "0000233987" "KIAA1549" "0000233988" "KIAA1549" "0000233989" "KIAA1549" "0000233990" "KIAA1549" "0000233991" "KIAA1549" "0000233992" "KIAA1549" "0000233993" "KIAA1549" "0000233994" "KIAA1549" "0000233995" "KIAA1549" "0000233996" "KIAA1549" "0000233997" "KIAA1549" "0000233998" "KIAA1549" "0000233999" "KIAA1549" "0000234000" "KIAA1549" "0000234001" "KIAA1549" "0000234002" "KIAA1549" "0000234003" "KIAA1549" "0000234004" "KIAA1549" "0000234005" "KIAA1549" "0000234006" "KIAA1549" "0000234007" "KIAA1549" "0000234008" "KIAA1549" "0000234009" "KIAA1549" "0000234010" "KIAA1549" "0000234011" "KIAA1549" "0000234012" "KIAA1549" "0000234013" "KIAA1549" "0000234014" "KIAA1549" "0000234821" "KIAA1549" "0000234822" "KIAA1549" "0000234823" "KIAA1549" "0000234824" "KIAA1549" "0000234825" "KIAA1549" "0000234826" "KIAA1549" "0000234827" "KIAA1549" "0000290238" "KIAA1549" "0000290239" "KIAA1549" "0000290240" "KIAA1549" "0000334708" "KIAA1549" "0000335649" "KIAA1549" "0000369583" "ABCA4" "0000390771" "KIAA1549" "0000401326" "USH2A" "0000431016" "KIAA1549" ## 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 = 188 "{{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}}" "0000090896" "3" "90" "7" "138601972" "138601973" "ins" "0" "00039" "KIAA1549_000001" "g.138601972_138601973insTT" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Unknown" "" "" "0" "" "" "g.138917226_138917227insTT" "" "pathogenic" "" "0000246596" "0" "10" "7" "138602267" "138602267" "subst" "0.000276474" "02330" "KIAA1549_000033" "g.138602267A>T" "" "" "" "KIAA1549(NM_001164665.2):c.2105T>A (p.L702Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138917521A>T" "" "benign" "" "0000246607" "0" "10" "7" "138524861" "138524861" "subst" "6.6523E-6" "02330" "KIAA1549_000002" "g.138524861A>C" "" "" "" "KIAA1549(NM_001164665.2):c.5598+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138840116A>C" "" "benign" "" "0000246638" "0" "30" "7" "138593867" "138593867" "subst" "0.000116066" "02330" "KIAA1549_000049" "g.138593867A>T" "" "" "" "KIAA1549(NM_001164665.2):c.3146T>A (p.V1049E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138909121A>T" "" "likely benign" "" "0000246639" "0" "30" "7" "138604149" "138604149" "subst" "0" "02330" "KIAA1549_000050" "g.138604149A>G" "" "" "" "KIAA1549(NM_001164665.2):c.223T>C (p.Y75H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138919403A>G" "" "likely benign" "" "0000278478" "0" "30" "7" "138665913" "138665913" "subst" "0" "02330" "KIAA1549_000048" "g.138665913G>A" "" "" "" "KIAA1549(NM_001164665.2):c.103C>T (p.R35C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138981167G>A" "" "likely benign" "" "0000278479" "0" "30" "7" "138603302" "138603302" "subst" "0.000186805" "02330" "KIAA1549_000043" "g.138603302G>T" "" "" "" "KIAA1549(NM_001164665.1):c.1070C>A (p.T357K), KIAA1549(NM_001164665.2):c.1070C>A (p.T357K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918556G>T" "" "likely benign" "" "0000278480" "0" "10" "7" "138603217" "138603217" "subst" "0.00030082" "02330" "KIAA1549_000042" "g.138603217G>A" "" "" "" "KIAA1549(NM_001164665.2):c.1155C>T (p.S385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918471G>A" "" "benign" "" "0000278481" "0" "10" "7" "138603139" "138603139" "subst" "2.43922E-5" "02330" "KIAA1549_000041" "g.138603139C>T" "" "" "" "KIAA1549(NM_001164665.2):c.1233G>A (p.P411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918393C>T" "" "benign" "" "0000278482" "0" "30" "7" "138603106" "138603106" "subst" "0.000101585" "02330" "KIAA1549_000040" "g.138603106C>T" "" "" "" "KIAA1549(NM_001164665.2):c.1266G>A (p.A422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918360C>T" "" "likely benign" "" "0000278483" "0" "10" "7" "138602864" "138602864" "subst" "8.12803E-6" "02330" "KIAA1549_000038" "g.138602864G>A" "" "" "" "KIAA1549(NM_001164665.2):c.1508C>T (p.T503M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918118G>A" "" "benign" "" "0000278484" "0" "30" "7" "138602626" "138602626" "subst" "0.000766582" "02330" "KIAA1549_000035" "g.138602626G>A" "" "" "" "KIAA1549(NM_001164665.2):c.1746C>T (p.A582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138917880G>A" "" "likely benign" "" "0000278485" "0" "30" "7" "138602466" "138602466" "subst" "5.15628E-5" "02330" "KIAA1549_000034" "g.138602466C>T" "" "" "" "KIAA1549(NM_001164665.2):c.1906G>A (p.G636S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138917720C>T" "" "likely benign" "" "0000278486" "0" "10" "7" "138604111" "138604111" "subst" "0.000967094" "02330" "KIAA1549_000047" "g.138604111G>A" "" "" "" "KIAA1549(NM_001164665.2):c.261C>T (p.H87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138919365G>A" "" "benign" "" "0000278487" "0" "30" "7" "138601732" "138601732" "subst" "0.000790322" "02330" "KIAA1549_000032" "g.138601732G>A" "" "" "" "KIAA1549(NM_001164665.2):c.2640C>T (p.S880=), KIAA1549(NM_020910.3):c.2640C>T (p.S880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138916986G>A" "" "likely benign" "" "0000278488" "0" "10" "7" "138601683" "138601683" "subst" "0.000246139" "02330" "KIAA1549_000031" "g.138601683C>T" "" "" "" "KIAA1549(NM_001164665.2):c.2689G>A (p.D897N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138916937C>T" "" "benign" "" "0000278490" "0" "10" "7" "138601659" "138601659" "subst" "0.000722111" "02330" "KIAA1549_000029" "g.138601659C>G" "" "" "" "KIAA1549(NM_001164665.2):c.2713G>C (p.A905P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138916913C>G" "" "benign" "" "0000278491" "0" "10" "7" "138601602" "138601602" "subst" "0.000906467" "02330" "KIAA1549_000028" "g.138601602C>T" "" "" "" "KIAA1549(NM_001164665.2):c.2770G>A (p.V924M, p.(Val924Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138916856C>T" "" "benign" "" "0000278493" "0" "30" "7" "138596011" "138596011" "subst" "0" "02330" "KIAA1549_000026" "g.138596011G>A" "" "" "" "KIAA1549(NM_001164665.2):c.3026C>T (p.T1009M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138911265G>A" "" "likely benign" "" "0000278494" "0" "10" "7" "138595985" "138595985" "subst" "0.00137199" "02330" "KIAA1549_000025" "g.138595985T>A" "" "" "" "KIAA1549(NM_001164665.2):c.3052A>T (p.I1018L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138911239T>A" "" "benign" "" "0000278495" "0" "50" "7" "138591675" "138591675" "subst" "1.7088E-5" "02330" "KIAA1549_000023" "g.138591675C>G" "" "" "" "KIAA1549(NM_001164665.2):c.3450G>C (p.Q1150H, p.(Gln1150His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138906929C>G" "" "VUS" "" "0000278496" "0" "50" "7" "138588379" "138588379" "subst" "0" "02330" "KIAA1549_000022" "g.138588379C>A" "" "" "" "KIAA1549(NM_001164665.2):c.3624G>T (p.R1208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138903633C>A" "" "VUS" "" "0000278497" "0" "30" "7" "138564372" "138564372" "subst" "0.000313138" "02330" "KIAA1549_000020" "g.138564372C>G" "" "" "" "KIAA1549(NM_001164665.2):c.4257G>C (p.T1419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138879626C>G" "" "likely benign" "" "0000278498" "0" "30" "7" "138556027" "138556027" "subst" "0.000153417" "02330" "KIAA1549_000018" "g.138556027G>A" "" "" "" "KIAA1549(NM_001164665.2):c.4427C>T (p.P1476L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138871281G>A" "" "likely benign" "" "0000278499" "0" "10" "7" "138555922" "138555922" "subst" "0.00204544" "02330" "KIAA1549_000016" "g.138555922C>G" "" "" "" "KIAA1549(NM_001164665.2):c.4532G>C (p.S1511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138871176C>G" "" "benign" "" "0000278501" "0" "30" "7" "138554497" "138554497" "subst" "2.08082E-5" "02330" "KIAA1549_000014" "g.138554497G>A" "" "" "" "KIAA1549(NM_001164665.2):c.4562C>T (p.A1521V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138869751G>A" "" "likely benign" "" "0000278502" "0" "10" "7" "138554343" "138554343" "subst" "0.0016861" "02330" "KIAA1549_000013" "g.138554343G>A" "" "" "" "KIAA1549(NM_001164665.1):c.4716C>T (p.I1572=), KIAA1549(NM_001164665.2):c.4716C>T (p.I1572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138869597G>A" "" "benign" "" "0000278503" "0" "10" "7" "138546216" "138546216" "subst" "0.0012652" "02330" "KIAA1549_000012" "g.138546216T>C" "" "" "" "KIAA1549(NM_001164665.2):c.4930-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138861470T>C" "" "benign" "" "0000278504" "0" "30" "7" "138546168" "138546168" "subst" "0" "02330" "KIAA1549_000011" "g.138546168G>A" "" "" "" "KIAA1549(NM_001164665.2):c.4964C>T (p.P1655L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138861422G>A" "" "likely benign" "" "0000278505" "0" "10" "7" "138545975" "138545975" "subst" "0.00316484" "02330" "KIAA1549_000008" "g.138545975G>A" "" "" "" "KIAA1549(NM_001164665.1):c.5157C>T (p.P1719=), KIAA1549(NM_001164665.2):c.5157C>T (p.P1719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138861229G>A" "" "benign" "" "0000278506" "0" "30" "7" "138545904" "138545904" "subst" "0.000791126" "02330" "KIAA1549_000007" "g.138545904G>A" "" "" "" "KIAA1549(NM_001164665.2):c.5228C>T (p.T1743M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138861158G>A" "" "likely benign" "" "0000278507" "0" "10" "7" "138536963" "138536963" "subst" "0.000533408" "02330" "KIAA1549_000005" "g.138536963C>T" "" "" "" "KIAA1549(NM_001164665.2):c.5294+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138852217C>T" "" "benign" "" "0000278508" "0" "10" "7" "138524956" "138524956" "subst" "0.00165003" "02330" "KIAA1549_000003" "g.138524956G>T" "" "" "" "KIAA1549(NM_001164665.1):c.5520C>A (p.I1840=), KIAA1549(NM_001164665.2):c.5520C>A (p.I1840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138840211G>T" "" "benign" "" "0000278509" "0" "30" "7" "138603662" "138603662" "subst" "0.000524003" "02330" "KIAA1549_000045" "g.138603662C>A" "" "" "" "KIAA1549(NM_001164665.2):c.710G>T (p.R237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918916C>A" "" "likely benign" "" "0000278510" "0" "10" "7" "138603487" "138603487" "subst" "0.000301463" "02330" "KIAA1549_000044" "g.138603487G>A" "" "" "" "KIAA1549(NM_001164665.2):c.885C>T (p.D295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918741G>A" "" "benign" "" "0000290214" "0" "30" "7" "138603049" "138603049" "subst" "6.09711E-5" "01943" "KIAA1549_000039" "g.138603049G>A" "" "" "" "KIAA1549(NM_001164665.1):c.1323C>T (p.D441=), KIAA1549(NM_001164665.2):c.1323C>T (p.D441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918303G>A" "" "likely benign" "" "0000290215" "0" "30" "7" "138602792" "138602792" "subst" "2.07357E-5" "01943" "KIAA1549_000037" "g.138602792C>T" "" "" "" "KIAA1549(NM_001164665.1):c.1580G>A (p.R527H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918046C>T" "" "likely benign" "" "0000290216" "0" "30" "7" "138602716" "138602716" "subst" "0.00183954" "01943" "KIAA1549_000036" "g.138602716G>A" "" "" "" "KIAA1549(NM_001164665.1):c.1656C>T (p.S552=), KIAA1549(NM_020910.3):c.1656C>T (p.S552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138917970G>A" "" "likely benign" "" "0000290217" "0" "50" "7" "138591808" "138591808" "subst" "0.000707347" "01943" "KIAA1549_000024" "g.138591808C>T" "" "" "" "KIAA1549(NM_001164665.1):c.3317G>A (p.R1106Q), KIAA1549(NM_001164665.2):c.3317G>A (p.R1106Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138907062C>T" "" "VUS" "" "0000290218" "0" "30" "7" "138583765" "138583765" "subst" "5.68847E-5" "01943" "KIAA1549_000021" "g.138583765G>A" "" "" "" "KIAA1549(NM_001164665.1):c.3783C>T (p.N1261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138899019G>A" "" "likely benign" "" "0000290219" "0" "30" "7" "138564277" "138564277" "subst" "6.41733E-5" "01943" "KIAA1549_000019" "g.138564277C>T" "" "" "" "KIAA1549(NM_001164665.1):c.4345+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138879531C>T" "" "likely benign" "" "0000290220" "0" "50" "7" "138556013" "138556013" "subst" "0.000168767" "01943" "KIAA1549_000017" "g.138556013G>A" "" "" "" "KIAA1549(NM_001164665.1):c.4441C>T (p.R1481W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138871267G>A" "" "VUS" "" "0000290221" "0" "30" "7" "138554343" "138554343" "subst" "0.0016861" "01943" "KIAA1549_000013" "g.138554343G>A" "" "" "" "KIAA1549(NM_001164665.1):c.4716C>T (p.I1572=), KIAA1549(NM_001164665.2):c.4716C>T (p.I1572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138869597G>A" "" "likely benign" "" "0000290222" "0" "50" "7" "138546162" "138546162" "subst" "2.49784E-5" "01943" "KIAA1549_000010" "g.138546162G>A" "" "" "" "KIAA1549(NM_001164665.1):c.4970C>T (p.S1657L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138861416G>A" "" "VUS" "" "0000290223" "0" "30" "7" "138546044" "138546044" "subst" "0" "01943" "KIAA1549_000009" "g.138546044G>C" "" "" "" "KIAA1549(NM_001164665.1):c.5088C>G (p.A1696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138861298G>C" "" "likely benign" "" "0000290224" "0" "30" "7" "138545975" "138545975" "subst" "0.00316484" "01943" "KIAA1549_000008" "g.138545975G>A" "" "" "" "KIAA1549(NM_001164665.1):c.5157C>T (p.P1719=), KIAA1549(NM_001164665.2):c.5157C>T (p.P1719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138861229G>A" "" "likely benign" "" "0000290225" "0" "50" "7" "138537002" "138537002" "subst" "0.000213059" "01943" "KIAA1549_000006" "g.138537002T>C" "" "" "" "KIAA1549(NM_001164665.1):c.5261A>G (p.Y1754C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138852256T>C" "" "VUS" "" "0000290226" "0" "50" "7" "138529202" "138529202" "subst" "0.000218065" "01943" "KIAA1549_000004" "g.138529202C>G" "" "" "" "KIAA1549(NM_001164665.1):c.5312G>C (p.G1771A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138844457C>G" "" "VUS" "" "0000290227" "0" "30" "7" "138524956" "138524956" "subst" "0.00165003" "01943" "KIAA1549_000003" "g.138524956G>T" "" "" "" "KIAA1549(NM_001164665.1):c.5520C>A (p.I1840=), KIAA1549(NM_001164665.2):c.5520C>A (p.I1840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138840211G>T" "" "likely benign" "" "0000290228" "0" "10" "7" "138603714" "138603714" "subst" "0.00955955" "01943" "KIAA1549_000046" "g.138603714C>G" "" "" "" "KIAA1549(NM_001164665.1):c.658G>C (p.A220P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138918968C>G" "" "benign" "" "0000394427" "0" "70" "7" "138665967" "138665967" "del" "0" "02230" "KIAA1549_000051" "g.138665967del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.138981221del" "" "likely pathogenic" "" "0000394428" "0" "70" "7" "138665967" "138665967" "del" "0" "02230" "KIAA1549_000051" "g.138665967del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.138981221del" "" "likely pathogenic" "" "0000394429" "0" "70" "7" "138554373" "138554373" "subst" "8.35513E-6" "02230" "KIAA1549_000052" "g.138554373G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.138869627G>T" "" "likely pathogenic" "" "0000476674" "0" "50" "7" "138522671" "138522671" "subst" "0.000166824" "02591" "KIAA1549_000053" "g.138522671C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs370670659" "0" "" "" "g.138837926C>T" "" "VUS" "" "0000476675" "0" "50" "7" "138522803" "138522803" "subst" "0.000164248" "02591" "KIAA1549_000054" "g.138522803G>A" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs372780314" "0" "" "" "g.138838058G>A" "" "VUS" "" "0000476676" "0" "50" "7" "138529188" "138529188" "subst" "2.55446E-5" "02591" "KIAA1549_000055" "g.138529188T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs751668936" "0" "" "" "g.138844443T>C" "" "VUS" "" "0000476677" "0" "50" "7" "138545934" "138545934" "subst" "0" "02591" "KIAA1549_000056" "g.138545934T>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138861188T>C" "" "VUS" "" "0000476678" "0" "50" "7" "138545941" "138545941" "subst" "7.36594E-5" "02591" "KIAA1549_000057" "g.138545941C>G" "24/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs145489214" "0" "" "" "g.138861195C>G" "" "VUS" "" "0000476679" "0" "50" "7" "138545946" "138545946" "subst" "0.006631" "02591" "KIAA1549_000058" "g.138545946C>T" "300/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs60797311" "0" "" "" "g.138861200C>T" "" "VUS" "" "0000476680" "0" "50" "7" "138546181" "138546181" "subst" "2.53056E-5" "02591" "KIAA1549_000059" "g.138546181C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs551170524" "0" "" "" "g.138861435C>T" "" "VUS" "" "0000476681" "0" "50" "7" "138554444" "138554444" "subst" "0" "02591" "KIAA1549_000060" "g.138554444C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138869698C>T" "" "VUS" "" "0000476682" "0" "50" "7" "138556037" "138556037" "subst" "8.28926E-6" "02591" "KIAA1549_000061" "g.138556037A>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138871291A>T" "" "VUS" "" "0000476683" "0" "50" "7" "138556082" "138556082" "subst" "3.37307E-5" "02591" "KIAA1549_000062" "g.138556082C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs781740183" "0" "" "" "g.138871336C>T" "" "VUS" "" "0000476684" "0" "50" "7" "138579245" "138579245" "subst" "0.00114584" "02591" "KIAA1549_000063" "g.138579245G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs139052197" "0" "" "" "g.138894499G>A" "" "VUS" "" "0000476685" "0" "50" "7" "138588380" "138588380" "subst" "3.26256E-5" "02591" "KIAA1549_000064" "g.138588380C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs768254181" "0" "" "" "g.138903634C>T" "" "VUS" "" "0000476686" "0" "50" "7" "138591808" "138591808" "subst" "4.52373E-5" "02591" "KIAA1549_000065" "g.138591808C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200423257" "0" "" "" "g.138907062C>A" "" "VUS" "" "0000476687" "0" "50" "7" "138591833" "138591833" "subst" "0" "02591" "KIAA1549_000066" "g.138591833T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138907087T>G" "" "VUS" "" "0000476688" "0" "50" "7" "138595967" "138595967" "subst" "0" "02591" "KIAA1549_000067" "g.138595967G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs745323375" "0" "" "" "g.138911221G>A" "" "VUS" "" "0000476689" "0" "50" "7" "138596019" "138596019" "subst" "4.35927E-6" "02591" "KIAA1549_000068" "g.138596019G>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs369870112" "0" "" "" "g.138911273G>C" "" "VUS" "" "0000476690" "0" "50" "7" "138601566" "138601566" "subst" "8.12863E-6" "02591" "KIAA1549_000069" "g.138601566G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs534132672" "0" "" "" "g.138916820G>A" "" "VUS" "" "0000476691" "0" "50" "7" "138601607" "138601607" "subst" "2.03254E-5" "02591" "KIAA1549_000070" "g.138601607C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs762326899" "0" "" "" "g.138916861C>T" "" "VUS" "" "0000476692" "0" "50" "7" "138601662" "138601662" "subst" "0.00210771" "02591" "KIAA1549_000071" "g.138601662C>T" "47/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs117908080" "0" "" "" "g.138916916C>T" "" "VUS" "" "0000476693" "0" "50" "7" "138601730" "138601730" "subst" "0.000426469" "02591" "KIAA1549_000072" "g.138601730G>A" "8/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs138709216" "0" "" "" "g.138916984G>A" "" "VUS" "" "0000476694" "0" "50" "7" "138601740" "138601740" "subst" "0" "02591" "KIAA1549_000073" "g.138601740T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138916994T>G" "" "VUS" "" "0000476695" "0" "50" "7" "138601826" "138601826" "subst" "0.329719" "02591" "KIAA1549_000074" "g.138601826G>A" "339/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2251220" "0" "" "" "g.138917080G>A" "" "VUS" "" "0000476696" "0" "50" "7" "138601847" "138601847" "subst" "0.000429114" "02591" "KIAA1549_000075" "g.138601847G>A" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202114551" "0" "" "" "g.138917101G>A" "" "VUS" "" "0000476697" "0" "50" "7" "138602177" "138602177" "subst" "6.90596E-5" "02591" "KIAA1549_000076" "g.138602177G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs375118283" "0" "" "" "g.138917431G>A" "" "VUS" "" "0000476698" "0" "50" "7" "138602240" "138602240" "subst" "0" "02591" "KIAA1549_000077" "g.138602240G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138917494G>A" "" "VUS" "" "0000476699" "0" "50" "7" "138602417" "138602417" "subst" "0.320769" "02591" "KIAA1549_000078" "g.138602417G>A" "336/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2774960" "0" "" "" "g.138917671G>A" "" "VUS" "" "0000476700" "0" "50" "7" "138602523" "138602523" "subst" "0.394464" "02591" "KIAA1549_000079" "g.138602523T>C" "337/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2774962" "0" "" "" "g.138917777T>C" "" "VUS" "" "0000476701" "0" "90" "7" "138602576" "138602577" "del" "0" "02591" "KIAA1549_000080" "g.138602576_138602577del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138917830_138917831del" "" "pathogenic" "" "0000476702" "0" "50" "7" "138602625" "138602625" "subst" "0" "02591" "KIAA1549_000081" "g.138602625C>T" "1/1198 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138917879C>T" "" "VUS" "" "0000476703" "0" "50" "7" "138602808" "138602808" "subst" "0" "02591" "KIAA1549_000082" "g.138602808G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138918062G>A" "" "VUS" "" "0000476704" "0" "50" "7" "138602810" "138602810" "subst" "6.53579E-5" "02591" "KIAA1549_000083" "g.138602810A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs377033404" "0" "" "" "g.138918064A>G" "" "VUS" "" "0000476705" "0" "50" "7" "138602822" "138602822" "subst" "6.92521E-5" "02591" "KIAA1549_000084" "g.138602822G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs780751915" "0" "" "" "g.138918076G>T" "" "VUS" "" "0000476706" "0" "50" "7" "138602895" "138602895" "subst" "4.87722E-5" "02591" "KIAA1549_000085" "g.138602895G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs537387549" "0" "" "" "g.138918149G>C" "" "VUS" "" "0000476707" "0" "50" "7" "138602916" "138602916" "subst" "0.212122" "02591" "KIAA1549_000086" "g.138602916G>C" "110/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2718131" "0" "" "" "g.138918170G>C" "" "VUS" "" "0000476708" "0" "50" "7" "138603278" "138603278" "subst" "4.06088E-6" "02591" "KIAA1549_000087" "g.138603278G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs746764454" "0" "" "" "g.138918532G>A" "" "VUS" "" "0000476709" "0" "50" "7" "138603282" "138603282" "subst" "0.208524" "02591" "KIAA1549_000088" "g.138603282T>C" "265/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs59985563" "0" "" "" "g.138918536T>C" "" "VUS" "" "0000476710" "0" "50" "7" "138603323" "138603323" "subst" "0" "02591" "KIAA1549_000099" "g.138603323G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138918577G>A" "" "VUS" "" "0000476711" "0" "50" "7" "138603675" "138603675" "subst" "2.43694E-5" "02591" "KIAA1549_000089" "g.138603675G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs369822469" "0" "" "" "g.138918929G>A" "" "VUS" "" "0000476712" "0" "50" "7" "138603713" "138603713" "subst" "0" "02591" "KIAA1549_000090" "g.138603713G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138918967G>A" "" "VUS" "" "0000476713" "0" "50" "7" "138603714" "138603714" "subst" "0.00955955" "02591" "KIAA1549_000046" "g.138603714C>G" "185/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs79731548" "0" "" "" "g.138918968C>G" "" "VUS" "" "0000476714" "0" "50" "7" "138603747" "138603747" "subst" "1.21829E-5" "02591" "KIAA1549_000091" "g.138603747T>A" "13/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs535256475" "0" "" "" "g.138919001T>A" "" "VUS" "" "0000476715" "0" "50" "7" "138603910" "138603910" "subst" "0.000511675" "02591" "KIAA1549_000092" "g.138603910G>C" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs191728209" "0" "" "" "g.138919164G>C" "" "VUS" "" "0000476716" "0" "50" "7" "138603987" "138603987" "subst" "0" "02591" "KIAA1549_000093" "g.138603987T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138919241T>C" "" "VUS" "" "0000476717" "0" "50" "7" "138604037" "138604037" "subst" "8.12288E-6" "02591" "KIAA1549_000094" "g.138604037G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138919291G>A" "" "VUS" "" "0000476718" "0" "50" "7" "138604154" "138604154" "subst" "0" "02591" "KIAA1549_000095" "g.138604154G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138919408G>A" "" "VUS" "" "0000476719" "0" "50" "7" "138665904" "138665904" "subst" "0" "02591" "KIAA1549_000096" "g.138665904G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138981158G>A" "" "VUS" "" "0000476720" "0" "50" "7" "138665913" "138665913" "subst" "0" "02591" "KIAA1549_000048" "g.138665913G>A" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138981167G>A" "" "VUS" "" "0000476721" "0" "50" "7" "138665921" "138665921" "subst" "0" "02591" "KIAA1549_000097" "g.138665921G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138981175G>A" "" "VUS" "" "0000476722" "0" "50" "7" "138665942" "138665942" "subst" "0" "02591" "KIAA1549_000098" "g.138665942G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.138981196G>A" "" "VUS" "" "0000477529" "3" "50" "7" "138545946" "138545946" "subst" "0.006631" "02591" "KIAA1549_000058" "g.138545946C>T" "19/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs60797311" "0" "" "" "g.138861200C>T" "" "VUS" "" "0000477530" "3" "50" "7" "138601826" "138601826" "subst" "0.329719" "02591" "KIAA1549_000074" "g.138601826G>A" "43/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2251220" "0" "" "" "g.138917080G>A" "" "VUS" "" "0000477531" "3" "50" "7" "138602417" "138602417" "subst" "0.320769" "02591" "KIAA1549_000078" "g.138602417G>A" "45/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2774960" "0" "" "" "g.138917671G>A" "" "VUS" "" "0000477532" "3" "50" "7" "138602523" "138602523" "subst" "0.394464" "02591" "KIAA1549_000079" "g.138602523T>C" "45/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2774962" "0" "" "" "g.138917777T>C" "" "VUS" "" "0000477533" "3" "50" "7" "138602916" "138602916" "subst" "0.212122" "02591" "KIAA1549_000086" "g.138602916G>C" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2718131" "0" "" "" "g.138918170G>C" "" "VUS" "" "0000477534" "3" "50" "7" "138603282" "138603282" "subst" "0.208524" "02591" "KIAA1549_000088" "g.138603282T>C" "19/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs59985563" "0" "" "" "g.138918536T>C" "" "VUS" "" "0000477535" "3" "50" "7" "138603714" "138603714" "subst" "0.00955955" "02591" "KIAA1549_000046" "g.138603714C>G" "11/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs79731548" "0" "" "" "g.138918968C>G" "" "VUS" "" "0000530948" "0" "10" "7" "138525007" "138525007" "subst" "0.000453545" "02330" "KIAA1549_000100" "g.138525007G>A" "" "" "" "KIAA1549(NM_001164665.2):c.5469C>T (p.H1823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138840262G>A" "" "benign" "" "0000530949" "0" "10" "7" "138552778" "138552778" "subst" "0.000394485" "02330" "KIAA1549_000101" "g.138552778G>A" "" "" "" "KIAA1549(NM_001164665.2):c.4872C>T (p.S1624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138868032G>A" "" "benign" "" "0000530950" "0" "10" "7" "138554527" "138554527" "dup" "0" "02330" "KIAA1549_000102" "g.138554527dup" "" "" "" "KIAA1549(NM_001164665.2):c.4552-20dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138869781dup" "" "benign" "" "0000530951" "0" "50" "7" "138579096" "138579096" "subst" "8.13068E-6" "02327" "KIAA1549_000103" "g.138579096G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138894350G>A" "" "VUS" "" "0000530952" "0" "10" "7" "138579245" "138579245" "subst" "0.00114584" "02330" "KIAA1549_000063" "g.138579245G>A" "" "" "" "KIAA1549(NM_001164665.1):c.3875C>T (p.P1292L), KIAA1549(NM_001164665.2):c.3875C>T (p.P1292L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138894499G>A" "" "benign" "" "0000530953" "0" "50" "7" "138579245" "138579245" "subst" "0.00114584" "01943" "KIAA1549_000063" "g.138579245G>A" "" "" "" "KIAA1549(NM_001164665.1):c.3875C>T (p.P1292L), KIAA1549(NM_001164665.2):c.3875C>T (p.P1292L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138894499G>A" "" "VUS" "" "0000530954" "0" "10" "7" "138583864" "138583864" "subst" "0.000126023" "02330" "KIAA1549_000104" "g.138583864C>T" "" "" "" "KIAA1549(NM_001164665.2):c.3684G>A (p.S1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138899118C>T" "" "benign" "" "0000530955" "0" "50" "7" "138593850" "138593850" "subst" "0.000134667" "02330" "KIAA1549_000105" "g.138593850G>A" "" "" "" "KIAA1549(NM_001164665.2):c.3163C>T (p.P1055S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138909104G>A" "" "VUS" "" "0000530956" "0" "30" "7" "138597225" "138597225" "subst" "0.00130146" "02330" "KIAA1549_000106" "g.138597225C>A" "" "" "" "KIAA1549(NM_001164665.2):c.2879-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138912479C>A" "" "likely benign" "" "0000530957" "0" "10" "7" "138602603" "138602603" "subst" "0.00153199" "02330" "KIAA1549_000107" "g.138602603G>A" "" "" "" "KIAA1549(NM_001164665.2):c.1769C>T (p.T590M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138917857G>A" "" "benign" "" "0000530958" "0" "10" "7" "138602973" "138602973" "subst" "0.00145577" "02330" "KIAA1549_000108" "g.138602973C>T" "" "" "" "KIAA1549(NM_001164665.2):c.1399G>A (p.V467I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138918227C>T" "" "benign" "" "0000530959" "0" "10" "7" "138603028" "138603028" "subst" "0.000101662" "02330" "KIAA1549_000109" "g.138603028G>A" "" "" "" "KIAA1549(NM_001164665.2):c.1344C>T (p.A448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138918282G>A" "" "benign" "" "0000530960" "0" "50" "7" "138603140" "138603140" "subst" "0.000333328" "02330" "KIAA1549_000110" "g.138603140G>A" "" "" "" "KIAA1549(NM_001164665.2):c.1232C>T (p.P411L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138918394G>A" "" "VUS" "" "0000530961" "0" "30" "7" "138603910" "138603910" "subst" "0.000511675" "02330" "KIAA1549_000092" "g.138603910G>C" "" "" "" "KIAA1549(NM_001164665.2):c.462C>G (p.D154E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138919164G>C" "" "likely benign" "" "0000530962" "0" "10" "7" "138665833" "138665833" "subst" "0" "02330" "KIAA1549_000111" "g.138665833G>A" "" "" "" "KIAA1549(NM_001164665.2):c.183C>T (p.A61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138981087G>A" "" "benign" "" "0000610864" "0" "30" "7" "138555927" "138555927" "subst" "4.08644E-5" "02330" "KIAA1549_000112" "g.138555927C>T" "" "" "" "KIAA1549(NM_020910.3):c.4527G>A (p.A1509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138871181C>T" "" "likely benign" "" "0000610865" "0" "30" "7" "138583714" "138583714" "subst" "0.000183006" "01943" "KIAA1549_000113" "g.138583714A>G" "" "" "" "KIAA1549(NM_001164665.1):c.3834T>C (p.G1278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138898968A>G" "" "likely benign" "" "0000610866" "0" "10" "7" "138591672" "138591672" "subst" "0.00118095" "02330" "KIAA1549_000114" "g.138591672G>A" "" "" "" "KIAA1549(NM_001164665.2):c.3453C>T (p.I1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138906926G>A" "" "benign" "" "0000621837" "0" "30" "7" "138603496" "138603496" "subst" "0.000171164" "02330" "KIAA1549_000115" "g.138603496C>T" "" "" "" "KIAA1549(NM_020910.3):c.876G>A (p.P292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138918750C>T" "" "likely benign" "" "0000646888" "3" "90" "7" "138665967" "138665967" "del" "0" "00006" "KIAA1549_000051" "g.138665967del" "" "{PMID:de Bruijn 2018:30120214}" "" "" "" "Germline" "yes" "" "0" "" "" "g.138981221del" "" "pathogenic (recessive)" "" "0000646889" "3" "90" "7" "138665967" "138665967" "del" "0" "00006" "KIAA1549_000051" "g.138665967del" "" "{PMID:de Bruijn 2018:30120214}" "" "" "" "Germline" "yes" "" "0" "" "" "g.138981221del" "" "pathogenic (recessive)" "" "0000646890" "3" "90" "7" "138554373" "138554373" "subst" "8.35513E-6" "00006" "KIAA1549_000052" "g.138554373G>T" "" "{PMID:de Bruijn 2018:30120214}" "" "" "father not available" "Germline" "" "" "0" "" "" "g.138869627G>T" "" "pathogenic (recessive)" "" "0000689929" "0" "30" "7" "138603171" "138603171" "subst" "0.000739982" "02330" "KIAA1549_000116" "g.138603171C>T" "" "" "" "KIAA1549(NM_020910.3):c.1201G>A (p.G401S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721297" "0" "50" "7" "138524888" "138524888" "subst" "0.000196348" "01943" "KIAA1549_000117" "g.138524888C>T" "" "" "" "KIAA1549(NM_001164665.1):c.5588G>A (p.R1863Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721298" "0" "50" "7" "138546181" "138546181" "subst" "2.53056E-5" "01943" "KIAA1549_000059" "g.138546181C>T" "" "" "" "KIAA1549(NM_001164665.1):c.4951G>A (p.D1651N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721299" "0" "50" "7" "138591808" "138591808" "subst" "0.000707347" "02330" "KIAA1549_000024" "g.138591808C>T" "" "" "" "KIAA1549(NM_001164665.1):c.3317G>A (p.R1106Q), KIAA1549(NM_001164665.2):c.3317G>A (p.R1106Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721300" "0" "30" "7" "138603169" "138603169" "subst" "4.06524E-5" "01943" "KIAA1549_000118" "g.138603169A>G" "" "" "" "KIAA1549(NM_001164665.1):c.1203T>C (p.G401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000732688" "1" "70" "7" "138546029" "138546029" "subst" "0" "00000" "KIAA1549_000120" "g.138546029G>A" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "no" "" "0" "" "" "g.138861283G>A" "" "likely pathogenic" "" "0000732691" "2" "70" "7" "138603068" "138603068" "subst" "8.12777E-5" "00000" "KIAA1549_000122" "g.138603068G>A" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "no" "" "0" "" "" "g.138918322G>A" "" "likely pathogenic" "" "0000734343" "1" "70" "7" "138522868" "138522868" "subst" "6.91701E-5" "00000" "KIAA1549_000119" "g.138522868G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.138838123G>A" "" "likely pathogenic" "" "0000734393" "2" "70" "7" "138554362" "138554362" "subst" "0" "00000" "KIAA1549_000121" "g.138554362C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.138869616C>T" "" "likely pathogenic" "" "0000784147" "0" "50" "7" "138536963" "138536963" "subst" "0.000533408" "00000" "KIAA1549_000005" "g.138536963C>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs117006285" "0" "" "" "g.138852217C>T" "" "VUS" "" "0000784151" "0" "50" "7" "138601847" "138601847" "subst" "0.000429114" "00000" "KIAA1549_000075" "g.138601847G>A" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs202114551" "0" "" "" "g.138917101G>A" "" "VUS" "" "0000784236" "0" "70" "7" "138603068" "138603068" "subst" "8.12777E-5" "00000" "KIAA1549_000122" "g.138603068G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs368659824" "0" "" "" "g.138918322G>A" "" "likely pathogenic (recessive)" "" "0000784258" "0" "70" "7" "138554411" "138554411" "subst" "0.00140754" "00000" "KIAA1549_000123" "g.138554411C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs116788555" "0" "" "" "g.138869665C>T" "" "likely pathogenic (recessive)" "" "0000784280" "0" "50" "7" "138601566" "138601566" "subst" "8.12863E-6" "00000" "KIAA1549_000069" "g.138601566G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.138916820G>A" "" "VUS" "" "0000784285" "0" "50" "7" "138603910" "138603910" "subst" "0.000511675" "00000" "KIAA1549_000092" "g.138603910G>C" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs191728209" "0" "" "" "g.138919164G>C" "" "VUS" "" "0000784315" "0" "70" "7" "138601953" "138601953" "subst" "6.09409E-5" "00000" "KIAA1549_000125" "g.138601953T>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs371582835" "0" "" "" "g.138917207T>A" "" "likely pathogenic (recessive)" "" "0000784406" "0" "70" "7" "138566146" "138566146" "subst" "8.9782E-5" "00000" "KIAA1549_000124" "g.138566146C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs375872081" "0" "" "" "g.138881400C>T" "" "likely pathogenic (recessive)" "" "0000784438" "0" "50" "7" "138603198" "138603198" "subst" "6.91063E-5" "00000" "KIAA1549_000126" "g.138603198C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.138918452C>T" "" "VUS" "" "0000784449" "0" "50" "7" "138603910" "138603910" "subst" "0.000511675" "00000" "KIAA1549_000092" "g.138603910G>C" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs191728209" "0" "" "" "g.138919164G>C" "" "VUS" "" "0000784494" "0" "50" "7" "138536963" "138536963" "subst" "0.000533408" "00000" "KIAA1549_000005" "g.138536963C>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs117006285" "0" "" "" "g.138852217C>T" "" "VUS" "" "0000784504" "0" "50" "7" "138602177" "138602177" "subst" "6.90596E-5" "00000" "KIAA1549_000076" "g.138602177G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs375118283" "0" "" "" "g.138917431G>A" "" "VUS" "" "0000784544" "0" "50" "7" "138601847" "138601847" "subst" "0.000429114" "00000" "KIAA1549_000075" "g.138601847G>A" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs202114551" "0" "" "" "g.138917101G>A" "" "VUS" "" "0000784551" "0" "50" "7" "138603910" "138603910" "subst" "0.000511675" "00000" "KIAA1549_000092" "g.138603910G>C" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs191728209" "0" "" "" "g.138919164G>C" "" "VUS" "" "0000788504" "0" "50" "7" "138602379" "138602379" "subst" "0" "00000" "KIAA1549_000127" "g.138602379G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C1993T" "" "Germline" "" "" "0" "" "" "g.138917633G>A" "" "VUS" "" "0000791614" "0" "50" "7" "138545934" "138545934" "subst" "0" "00000" "KIAA1549_000056" "g.138545934T>C" "" "{PMID:Hosono 2018:29844330}" "" "c.5198A>G" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "" "0" "" "" "g.138861188T>C" "" "VUS" "ACMG" "0000791618" "0" "50" "7" "138593849" "138593849" "subst" "2.44904E-5" "00000" "KIAA1549_000128" "g.138593849G>A" "" "{PMID:Hosono 2018:29844330}" "" "c.3164C>T" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "rs368584498" "0" "" "" "g.138909103G>A" "" "VUS" "ACMG" "0000802954" "0" "50" "7" "138554315" "138554315" "subst" "0.000655676" "01943" "KIAA1549_000129" "g.138554315C>T" "" "" "" "KIAA1549(NM_001164665.1):c.4744G>A (p.V1582M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802955" "0" "50" "7" "138554387" "138554387" "subst" "0" "01943" "KIAA1549_000130" "g.138554387T>A" "" "" "" "KIAA1549(NM_001164665.1):c.4672A>T (p.T1558S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802956" "0" "10" "7" "138554411" "138554411" "subst" "0.00140754" "02330" "KIAA1549_000123" "g.138554411C>T" "" "" "" "KIAA1549(NM_020910.3):c.4648G>A (p.V1550I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802957" "0" "10" "7" "138566205" "138566205" "subst" "0.000917983" "02330" "KIAA1549_000131" "g.138566205C>T" "" "" "" "KIAA1549(NM_020910.3):c.4158G>A (p.T1386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802958" "0" "50" "7" "138602079" "138602079" "subst" "8.13928E-6" "01943" "KIAA1549_000132" "g.138602079C>T" "" "" "" "KIAA1549(NM_001164665.1):c.2293G>A (p.A765T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802959" "0" "50" "7" "138603302" "138603302" "subst" "0.000186805" "01943" "KIAA1549_000043" "g.138603302G>T" "" "" "" "KIAA1549(NM_001164665.1):c.1070C>A (p.T357K), KIAA1549(NM_001164665.2):c.1070C>A (p.T357K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802960" "0" "50" "7" "138603473" "138603473" "subst" "0.000317383" "01943" "KIAA1549_000133" "g.138603473G>A" "" "" "" "KIAA1549(NM_001164665.1):c.899C>T (p.P300L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000820116" "1" "70" "7" "138579129" "138579129" "del" "0" "00000" "KIAA1549_000134" "g.138579129del" "" "{PMID:Weisschuh 2020:32531858}" "" "KIAA1549, variant 1: c.3993del/p.Q1332Sfs*19, variant 2: c.3993del/p.Q1332Sfs*19" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.138894383del" "" "likely pathogenic" "" "0000834545" "0" "50" "7" "138522803" "138522803" "subst" "0.000164248" "00000" "KIAA1549_000054" "g.138522803G>A" "" "{PMID:Ng 2019:30948794}" "" "KIAA1549 c.5653C>T, p.R1885W" "different transcript: NM_020910.2(KIAA1549):c.5653C>T, p.(Arg1885Trp); heterozygous" "Germline" "no" "" "0" "" "" "g.138838058G>A" "" "VUS" "" "0000851477" "0" "30" "7" "138591758" "138591758" "subst" "0" "02330" "KIAA1549_000136" "g.138591758A>G" "" "" "" "KIAA1549(NM_020910.3):c.3367T>C (p.L1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851478" "0" "50" "7" "138602304" "138602304" "subst" "0" "01943" "KIAA1549_000140" "g.138602304T>C" "" "" "" "KIAA1549(NM_001164665.1):c.2068A>G (p.N690D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851479" "0" "30" "7" "138603100" "138603100" "subst" "0" "01943" "KIAA1549_000141" "g.138603100G>A" "" "" "" "KIAA1549(NM_001164665.1):c.1272C>T (p.C424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851480" "0" "30" "7" "138603199" "138603199" "subst" "1.2196E-5" "01943" "KIAA1549_000142" "g.138603199G>A" "" "" "" "KIAA1549(NM_001164665.1):c.1173C>T (p.S391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851481" "0" "50" "7" "138603729" "138603729" "subst" "0" "01943" "KIAA1549_000143" "g.138603729T>C" "" "" "" "KIAA1549(NM_001164665.1):c.643A>G (p.T215A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860656" "0" "30" "7" "138522819" "138522819" "subst" "0" "02330" "KIAA1549_000135" "g.138522819G>A" "" "" "" "KIAA1549(NM_020910.3):c.5637C>T (p.S1879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860657" "0" "30" "7" "138596028" "138596028" "subst" "0" "02330" "KIAA1549_000137" "g.138596028G>A" "" "" "" "KIAA1549(NM_020910.3):c.3009C>T (p.S1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860658" "0" "50" "7" "138601515" "138601515" "subst" "0.000386273" "01943" "KIAA1549_000138" "g.138601515C>T" "" "" "" "KIAA1549(NM_001164665.1):c.2857G>A (p.D953N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860659" "0" "30" "7" "138602218" "138602218" "subst" "4.06481E-6" "01943" "KIAA1549_000139" "g.138602218T>C" "" "" "" "KIAA1549(NM_001164665.1):c.2154A>G (p.P718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887690" "0" "30" "7" "138566149" "138566149" "subst" "0.000566685" "02330" "KIAA1549_000144" "g.138566149A>G" "" "" "" "KIAA1549(NM_020910.3):c.4214T>C (p.V1405A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887691" "0" "30" "7" "138589823" "138589823" "subst" "0" "02330" "KIAA1549_000145" "g.138589823G>A" "" "" "" "KIAA1549(NM_020910.3):c.3465C>T (p.F1155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887692" "0" "30" "7" "138602447" "138602447" "subst" "0.00064663" "02330" "KIAA1549_000146" "g.138602447G>A" "" "" "" "KIAA1549(NM_020910.3):c.1925C>T (p.S642L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887693" "0" "10" "7" "138602716" "138602716" "subst" "0.00183954" "02330" "KIAA1549_000036" "g.138602716G>A" "" "" "" "KIAA1549(NM_001164665.1):c.1656C>T (p.S552=), KIAA1549(NM_020910.3):c.1656C>T (p.S552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915946" "3" "70" "7" "138556027" "138556027" "dup" "0" "04436" "KIAA1549_000147" "g.138556027dup" "" "{PMID:Panneman 2023:36819107}" "" "c.4427dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000952344" "3" "50" "7" "138603341" "138603341" "subst" "0" "00006" "KIAA1549_000148" "g.138603341G>C" "" "{PMID:Chatron 2020:32282878}" "" "NM_001164665:c.1031C>G" "" "Germline" "" "" "0" "" "" "g.138918595G>C" "" "VUS" "" "0000952357" "3" "50" "7" "138603341" "138603341" "subst" "0" "00006" "KIAA1549_000148" "g.138603341G>C" "" "{PMID:Chatron 2020:32282878}" "" "NM_001164665:c.1031C>G" "" "Germline" "" "" "0" "" "" "g.138918595G>C" "" "VUS" "" "0000964455" "0" "30" "7" "138591862" "138591862" "subst" "3.13463E-5" "02330" "KIAA1549_000149" "g.138591862G>C" "" "" "" "KIAA1549(NM_001164665.2):c.3277-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964458" "0" "30" "7" "138603049" "138603049" "subst" "6.09711E-5" "02330" "KIAA1549_000039" "g.138603049G>A" "" "" "" "KIAA1549(NM_001164665.1):c.1323C>T (p.D441=), KIAA1549(NM_001164665.2):c.1323C>T (p.D441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977538" "0" "30" "7" "138545946" "138545946" "subst" "0.006631" "01804" "KIAA1549_000058" "g.138545946C>T" "" "" "" "KIAA1549(NM_001164665.2):c.5186G>A (p.(Arg1729Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977539" "0" "50" "7" "138591675" "138591675" "subst" "1.7088E-5" "01804" "KIAA1549_000023" "g.138591675C>G" "" "" "" "KIAA1549(NM_001164665.2):c.3450G>C (p.Q1150H, p.(Gln1150His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036148" "0" "30" "7" "138601602" "138601602" "subst" "0.000906467" "01804" "KIAA1549_000028" "g.138601602C>T" "" "" "" "KIAA1549(NM_001164665.2):c.2770G>A (p.V924M, p.(Val924Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036149" "0" "30" "7" "138603236" "138603236" "subst" "0.0002844" "01804" "KIAA1549_000150" "g.138603236G>C" "" "" "" "KIAA1549(NM_001164665.2):c.1136C>G (p.(Ser379Cys))" "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 KIAA1549 ## Count = 188 "{{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}}" "0000090896" "00010546" "90" "2399" "0" "2400" "0" "c.2399_2400insAA" "r.(?)" "p.(Glu801Metfs*9)" "2" "0000246596" "00010546" "10" "2105" "0" "2105" "0" "c.2105T>A" "r.(?)" "p.(Leu702Gln)" "" "0000246607" "00010546" "10" "5598" "17" "5598" "17" "c.5598+17T>G" "r.(=)" "p.(=)" "" "0000246638" "00010546" "30" "3146" "0" "3146" "0" "c.3146T>A" "r.(?)" "p.(Val1049Glu)" "" "0000246639" "00010546" "30" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Tyr75His)" "" "0000278478" "00010546" "30" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35Cys)" "" "0000278479" "00010546" "30" "1070" "0" "1070" "0" "c.1070C>A" "r.(?)" "p.(Thr357Lys)" "" "0000278480" "00010546" "10" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Ser385=)" "" "0000278481" "00010546" "10" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Pro411=)" "" "0000278482" "00010546" "30" "1266" "0" "1266" "0" "c.1266G>A" "r.(?)" "p.(Ala422=)" "" "0000278483" "00010546" "10" "1508" "0" "1508" "0" "c.1508C>T" "r.(?)" "p.(Thr503Met)" "" "0000278484" "00010546" "30" "1746" "0" "1746" "0" "c.1746C>T" "r.(?)" "p.(Ala582=)" "" "0000278485" "00010546" "30" "1906" "0" "1906" "0" "c.1906G>A" "r.(?)" "p.(Gly636Ser)" "" "0000278486" "00010546" "10" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(His87=)" "" "0000278487" "00010546" "30" "2640" "0" "2640" "0" "c.2640C>T" "r.(?)" "p.(Ser880=)" "" "0000278488" "00010546" "10" "2689" "0" "2689" "0" "c.2689G>A" "r.(?)" "p.(Asp897Asn)" "" "0000278490" "00010546" "10" "2713" "0" "2713" "0" "c.2713G>C" "r.(?)" "p.(Ala905Pro)" "" "0000278491" "00010546" "10" "2770" "0" "2770" "0" "c.2770G>A" "r.(?)" "p.(Val924Met)" "" "0000278493" "00010546" "30" "3026" "0" "3026" "0" "c.3026C>T" "r.(?)" "p.(Thr1009Met)" "" "0000278494" "00010546" "10" "3052" "0" "3052" "0" "c.3052A>T" "r.(?)" "p.(Ile1018Leu)" "" "0000278495" "00010546" "50" "3450" "0" "3450" "0" "c.3450G>C" "r.(?)" "p.(Gln1150His)" "" "0000278496" "00010546" "50" "3624" "0" "3624" "0" "c.3624G>T" "r.(?)" "p.(Arg1208=)" "" "0000278497" "00010546" "30" "4257" "0" "4257" "0" "c.4257G>C" "r.(?)" "p.(Thr1419=)" "" "0000278498" "00010546" "30" "4427" "0" "4427" "0" "c.4427C>T" "r.(?)" "p.(Pro1476Leu)" "" "0000278499" "00010546" "10" "4532" "0" "4532" "0" "c.4532G>C" "r.(?)" "p.(Ser1511Thr)" "" "0000278501" "00010546" "30" "4562" "0" "4562" "0" "c.4562C>T" "r.(?)" "p.(Ala1521Val)" "" "0000278502" "00010546" "10" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Ile1572=)" "" "0000278503" "00010546" "10" "4930" "-14" "4930" "-14" "c.4930-14A>G" "r.(=)" "p.(=)" "" "0000278504" "00010546" "30" "4964" "0" "4964" "0" "c.4964C>T" "r.(?)" "p.(Pro1655Leu)" "" "0000278505" "00010546" "10" "5157" "0" "5157" "0" "c.5157C>T" "r.(?)" "p.(Pro1719=)" "" "0000278506" "00010546" "30" "5228" "0" "5228" "0" "c.5228C>T" "r.(?)" "p.(Thr1743Met)" "" "0000278507" "00010546" "10" "5294" "6" "5294" "6" "c.5294+6G>A" "r.(=)" "p.(=)" "" "0000278508" "00010546" "10" "5520" "0" "5520" "0" "c.5520C>A" "r.(?)" "p.(Ile1840=)" "" "0000278509" "00010546" "30" "710" "0" "710" "0" "c.710G>T" "r.(?)" "p.(Arg237Leu)" "" "0000278510" "00010546" "10" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Asp295=)" "" "0000290214" "00010546" "30" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Asp441=)" "" "0000290215" "00010546" "30" "1580" "0" "1580" "0" "c.1580G>A" "r.(?)" "p.(Arg527His)" "" "0000290216" "00010546" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(Ser552=)" "" "0000290217" "00010546" "50" "3317" "0" "3317" "0" "c.3317G>A" "r.(?)" "p.(Arg1106Gln)" "" "0000290218" "00010546" "30" "3783" "0" "3783" "0" "c.3783C>T" "r.(?)" "p.(Asn1261=)" "" "0000290219" "00010546" "30" "4345" "7" "4345" "7" "c.4345+7G>A" "r.(=)" "p.(=)" "" "0000290220" "00010546" "50" "4441" "0" "4441" "0" "c.4441C>T" "r.(?)" "p.(Arg1481Trp)" "" "0000290221" "00010546" "30" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Ile1572=)" "" "0000290222" "00010546" "50" "4970" "0" "4970" "0" "c.4970C>T" "r.(?)" "p.(Ser1657Leu)" "" "0000290223" "00010546" "30" "5088" "0" "5088" "0" "c.5088C>G" "r.(?)" "p.(Ala1696=)" "" "0000290224" "00010546" "30" "5157" "0" "5157" "0" "c.5157C>T" "r.(?)" "p.(Pro1719=)" "" "0000290225" "00010546" "50" "5261" "0" "5261" "0" "c.5261A>G" "r.(?)" "p.(Tyr1754Cys)" "" "0000290226" "00010546" "50" "5312" "0" "5312" "0" "c.5312G>C" "r.(?)" "p.(Gly1771Ala)" "" "0000290227" "00010546" "30" "5520" "0" "5520" "0" "c.5520C>A" "r.(?)" "p.(Ile1840=)" "" "0000290228" "00010546" "10" "658" "0" "658" "0" "c.658G>C" "r.(?)" "p.(Ala220Pro)" "" "0000394427" "00010546" "70" "52" "0" "52" "0" "c.52del" "r.(?)" "p.(Arg18Alafs*64)" "1" "0000394428" "00010546" "70" "52" "0" "52" "0" "c.52del" "r.(?)" "p.(Arg18Alafs*64)" "1" "0000394429" "00010546" "70" "4686" "0" "4686" "0" "c.4686C>A" "r.(?)" "p.(His1562Gln)" "14" "0000476674" "00010546" "50" "5833" "0" "5833" "0" "c.5833G>A" "r.(?)" "p.(Val1945Met)" "" "0000476675" "00010546" "50" "5701" "0" "5701" "0" "c.5701C>T" "r.(?)" "p.(Arg1901Trp)" "" "0000476676" "00010546" "50" "5326" "0" "5326" "0" "c.5326A>G" "r.(?)" "p.(Thr1776Ala)" "" "0000476677" "00010546" "50" "5198" "0" "5198" "0" "c.5198A>G" "r.(?)" "p.(Gln1733Arg)" "" "0000476678" "00010546" "50" "5191" "0" "5191" "0" "c.5191G>C" "r.(?)" "p.(Ala1731Pro)" "" "0000476679" "00010546" "50" "5186" "0" "5186" "0" "c.5186G>A" "r.(?)" "p.(Arg1729Lys)" "" "0000476680" "00010546" "50" "4951" "0" "4951" "0" "c.4951G>A" "r.(?)" "p.(Asp1651Asn)" "" "0000476681" "00010546" "50" "4615" "0" "4615" "0" "c.4615G>A" "r.(?)" "p.(Ala1539Thr)" "" "0000476682" "00010546" "50" "4417" "0" "4417" "0" "c.4417T>A" "r.(?)" "p.(Ser1473Thr)" "" "0000476683" "00010546" "50" "4372" "0" "4372" "0" "c.4372G>A" "r.(?)" "p.(Glu1458Lys)" "" "0000476684" "00010546" "50" "3875" "0" "3875" "0" "c.3875C>T" "r.(?)" "p.(Pro1292Leu)" "" "0000476685" "00010546" "50" "3623" "0" "3623" "0" "c.3623G>A" "r.(?)" "p.(Arg1208Gln)" "" "0000476686" "00010546" "50" "3317" "0" "3317" "0" "c.3317G>T" "r.(?)" "p.(Arg1106Leu)" "" "0000476687" "00010546" "50" "3292" "0" "3292" "0" "c.3292A>C" "r.(?)" "p.(Ile1098Leu)" "" "0000476688" "00010546" "50" "3070" "0" "3070" "0" "c.3070C>T" "r.(?)" "p.(Arg1024Cys)" "" "0000476689" "00010546" "50" "3018" "0" "3018" "0" "c.3018C>G" "r.(?)" "p.(Phe1006Leu)" "" "0000476690" "00010546" "50" "2806" "0" "2806" "0" "c.2806C>T" "r.(?)" "p.(Pro936Ser)" "" "0000476691" "00010546" "50" "2765" "0" "2765" "0" "c.2765G>A" "r.(?)" "p.(Arg922His)" "" "0000476692" "00010546" "50" "2710" "0" "2710" "0" "c.2710G>A" "r.(?)" "p.(Ala904Thr)" "" "0000476693" "00010546" "50" "2642" "0" "2642" "0" "c.2642C>T" "r.(?)" "p.(Thr881Met)" "" "0000476694" "00010546" "50" "2632" "0" "2632" "0" "c.2632A>C" "r.(?)" "p.(Asn878His)" "" "0000476695" "00010546" "50" "2546" "0" "2546" "0" "c.2546C>T" "r.(?)" "p.(Ser849Leu)" "" "0000476696" "00010546" "50" "2525" "0" "2525" "0" "c.2525C>T" "r.(?)" "p.(Ala842Val)" "" "0000476697" "00010546" "50" "2195" "0" "2195" "0" "c.2195C>T" "r.(?)" "p.(Ala732Val)" "" "0000476698" "00010546" "50" "2132" "0" "2132" "0" "c.2132C>T" "r.(?)" "p.(Pro711Leu)" "" "0000476699" "00010546" "50" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Pro652Leu)" "" "0000476700" "00010546" "50" "1849" "0" "1849" "0" "c.1849A>G" "r.(?)" "p.(Arg617Gly)" "" "0000476701" "00010546" "90" "1796" "0" "1797" "0" "c.1796_1797del" "r.(?)" "p.(Glu599Valfs*6)" "" "0000476702" "00010546" "50" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Val583Ile)" "" "0000476703" "00010546" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Pro522Ser)" "" "0000476704" "00010546" "50" "1562" "0" "1562" "0" "c.1562T>C" "r.(?)" "p.(Val521Ala)" "" "0000476705" "00010546" "50" "1550" "0" "1550" "0" "c.1550C>A" "r.(?)" "p.(Thr517Lys)" "" "0000476706" "00010546" "50" "1477" "0" "1477" "0" "c.1477C>G" "r.(?)" "p.(Leu493Val)" "" "0000476707" "00010546" "50" "1456" "0" "1456" "0" "c.1456C>G" "r.(?)" "p.(Pro486Ala)" "" "0000476708" "00010546" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Pro365Leu)" "" "0000476709" "00010546" "50" "1090" "0" "1090" "0" "c.1090A>G" "r.(?)" "p.(Thr364Ala)" "" "0000476710" "00010546" "50" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Ala350Val)" "" "0000476711" "00010546" "50" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Trp)" "" "0000476712" "00010546" "50" "659" "0" "659" "0" "c.659C>T" "r.(?)" "p.(Ala220Val)" "" "0000476713" "00010546" "50" "658" "0" "658" "0" "c.658G>C" "r.(?)" "p.(Ala220Pro)" "" "0000476714" "00010546" "50" "625" "0" "625" "0" "c.625A>T" "r.(?)" "p.(Thr209Ser)" "" "0000476715" "00010546" "50" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(Asp154Glu)" "" "0000476716" "00010546" "50" "385" "0" "385" "0" "c.385A>G" "r.(?)" "p.(Thr129Ala)" "" "0000476717" "00010546" "50" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Pro112Leu)" "" "0000476718" "00010546" "50" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Ser73Phe)" "" "0000476719" "00010546" "50" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000476720" "00010546" "50" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35Cys)" "" "0000476721" "00010546" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Pro32Leu)" "" "0000476722" "00010546" "50" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000477529" "00010546" "50" "5186" "0" "5186" "0" "c.5186G>A" "r.(?)" "p.(Arg1729Lys)" "" "0000477530" "00010546" "50" "2546" "0" "2546" "0" "c.2546C>T" "r.(?)" "p.(Ser849Leu)" "" "0000477531" "00010546" "50" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Pro652Leu)" "" "0000477532" "00010546" "50" "1849" "0" "1849" "0" "c.1849A>G" "r.(?)" "p.(Arg617Gly)" "" "0000477533" "00010546" "50" "1456" "0" "1456" "0" "c.1456C>G" "r.(?)" "p.(Pro486Ala)" "" "0000477534" "00010546" "50" "1090" "0" "1090" "0" "c.1090A>G" "r.(?)" "p.(Thr364Ala)" "" "0000477535" "00010546" "50" "658" "0" "658" "0" "c.658G>C" "r.(?)" "p.(Ala220Pro)" "" "0000530948" "00010546" "10" "5469" "0" "5469" "0" "c.5469C>T" "r.(?)" "p.(His1823=)" "" "0000530949" "00010546" "10" "4872" "0" "4872" "0" "c.4872C>T" "r.(?)" "p.(Ser1624=)" "" "0000530950" "00010546" "10" "4552" "-20" "4552" "-20" "c.4552-20dup" "r.(=)" "p.(=)" "" "0000530951" "00010546" "50" "4024" "0" "4024" "0" "c.4024C>T" "r.(?)" "p.(Arg1342Cys)" "" "0000530952" "00010546" "10" "3875" "0" "3875" "0" "c.3875C>T" "r.(?)" "p.(Pro1292Leu)" "" "0000530953" "00010546" "50" "3875" "0" "3875" "0" "c.3875C>T" "r.(?)" "p.(Pro1292Leu)" "" "0000530954" "00010546" "10" "3684" "0" "3684" "0" "c.3684G>A" "r.(?)" "p.(Ser1228=)" "" "0000530955" "00010546" "50" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(Pro1055Ser)" "" "0000530956" "00010546" "30" "2879" "-19" "2879" "-19" "c.2879-19G>T" "r.(=)" "p.(=)" "" "0000530957" "00010546" "10" "1769" "0" "1769" "0" "c.1769C>T" "r.(?)" "p.(Thr590Met)" "" "0000530958" "00010546" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Val467Ile)" "" "0000530959" "00010546" "10" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Ala448=)" "" "0000530960" "00010546" "50" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Pro411Leu)" "" "0000530961" "00010546" "30" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(Asp154Glu)" "" "0000530962" "00010546" "10" "183" "0" "183" "0" "c.183C>T" "r.(?)" "p.(Ala61=)" "" "0000610864" "00010546" "30" "4527" "0" "4527" "0" "c.4527G>A" "r.(?)" "p.(Ala1509=)" "" "0000610865" "00010546" "30" "3834" "0" "3834" "0" "c.3834T>C" "r.(?)" "p.(Gly1278=)" "" "0000610866" "00010546" "10" "3453" "0" "3453" "0" "c.3453C>T" "r.(?)" "p.(Ile1151=)" "" "0000621837" "00010546" "30" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(Pro292=)" "" "0000646888" "00010546" "90" "52" "0" "52" "0" "c.52del" "r.(?)" "p.(Arg18Alafs*64)" "" "0000646889" "00010546" "90" "52" "0" "52" "0" "c.52del" "r.(?)" "p.(Arg18Alafs*64)" "" "0000646890" "00010546" "90" "4686" "0" "4686" "0" "c.4686C>A" "r.(?)" "p.(His1562Gln)" "" "0000689929" "00010546" "30" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Gly401Ser)" "" "0000721297" "00010546" "50" "5588" "0" "5588" "0" "c.5588G>A" "r.(?)" "p.(Arg1863Gln)" "" "0000721298" "00010546" "50" "4951" "0" "4951" "0" "c.4951G>A" "r.(?)" "p.(Asp1651Asn)" "" "0000721299" "00010546" "50" "3317" "0" "3317" "0" "c.3317G>A" "r.(?)" "p.(Arg1106Gln)" "" "0000721300" "00010546" "30" "1203" "0" "1203" "0" "c.1203T>C" "r.(?)" "p.(Gly401=)" "" "0000732688" "00010546" "70" "5103" "0" "5103" "0" "c.5103C>T" "r.(5103c>u)" "p.(Ser1701=)" "" "0000732691" "00010546" "70" "1304" "0" "1304" "0" "c.1304C>T" "r.(1304c>u)" "p.(Thr435Met)" "" "0000734343" "00010546" "70" "5636" "0" "5636" "0" "c.5636C>T" "r.(?)" "p.(Pro1879Leu)" "" "0000734393" "00010546" "70" "4697" "0" "4697" "0" "c.4697G>A" "r.(?)" "p.(Arg1566His)" "" "0000784147" "00010546" "50" "5294" "6" "5294" "6" "c.5294+6G>A" "r.(=)" "p.(=)" "" "0000784151" "00010546" "50" "2525" "0" "2525" "0" "c.2525C>T" "r.(?)" "p.(Ala842Val)" "" "0000784236" "00010546" "70" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Thr435Met)" "" "0000784258" "00010546" "70" "4648" "0" "4648" "0" "c.4648G>A" "r.(?)" "p.(Val1550Ile)" "" "0000784280" "00010546" "50" "2806" "0" "2806" "0" "c.2806C>T" "r.(?)" "p.(Pro936Ser)" "" "0000784285" "00010546" "50" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(Asp154Glu)" "" "0000784315" "00010546" "70" "2419" "0" "2419" "0" "c.2419A>T" "r.(?)" "p.(Thr807Ser)" "" "0000784406" "00010546" "70" "4217" "0" "4217" "0" "c.4217G>A" "r.(?)" "p.(Arg1406His)" "" "0000784438" "00010546" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Glu392Lys)" "" "0000784449" "00010546" "50" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(Asp154Glu)" "" "0000784494" "00010546" "50" "5294" "6" "5294" "6" "c.5294+6G>A" "r.(=)" "p.(=)" "" "0000784504" "00010546" "50" "2195" "0" "2195" "0" "c.2195C>T" "r.(?)" "p.(Ala732Val)" "" "0000784544" "00010546" "50" "2525" "0" "2525" "0" "c.2525C>T" "r.(?)" "p.(Ala842Val)" "" "0000784551" "00010546" "50" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(Asp154Glu)" "" "0000788504" "00010546" "50" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Pro665Ser)" "2" "0000791614" "00010546" "50" "5198" "0" "5198" "0" "c.5198A>G" "r.(?)" "p.(Gln1733Arg)" "16" "0000791618" "00010546" "50" "3164" "0" "3164" "0" "c.3164C>T" "r.(?)" "p.(Pro1055Leu)" "5" "0000802954" "00010546" "50" "4744" "0" "4744" "0" "c.4744G>A" "r.(?)" "p.(Val1582Met)" "" "0000802955" "00010546" "50" "4672" "0" "4672" "0" "c.4672A>T" "r.(?)" "p.(Thr1558Ser)" "" "0000802956" "00010546" "10" "4648" "0" "4648" "0" "c.4648G>A" "r.(?)" "p.(Val1550Ile)" "" "0000802957" "00010546" "10" "4158" "0" "4158" "0" "c.4158G>A" "r.(?)" "p.(Thr1386=)" "" "0000802958" "00010546" "50" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Ala765Thr)" "" "0000802959" "00010546" "50" "1070" "0" "1070" "0" "c.1070C>A" "r.(?)" "p.(Thr357Lys)" "" "0000802960" "00010546" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Pro300Leu)" "" "0000820116" "00010546" "70" "3993" "0" "3993" "0" "c.3993del" "r.(?)" "p.(Gln1332Serfs*19)" "" "0000834545" "00010546" "50" "5701" "0" "5701" "0" "c.5701C>T" "r.(?)" "p.(Arg1901Trp)" "20" "0000851477" "00010546" "30" "3367" "0" "3367" "0" "c.3367T>C" "r.(?)" "p.(Leu1123=)" "" "0000851478" "00010546" "50" "2068" "0" "2068" "0" "c.2068A>G" "r.(?)" "p.(Asn690Asp)" "" "0000851479" "00010546" "30" "1272" "0" "1272" "0" "c.1272C>T" "r.(?)" "p.(Cys424=)" "" "0000851480" "00010546" "30" "1173" "0" "1173" "0" "c.1173C>T" "r.(?)" "p.(Ser391=)" "" "0000851481" "00010546" "50" "643" "0" "643" "0" "c.643A>G" "r.(?)" "p.(Thr215Ala)" "" "0000860656" "00010546" "30" "5685" "0" "5685" "0" "c.5685C>T" "r.(?)" "p.(Ser1895=)" "" "0000860657" "00010546" "30" "3009" "0" "3009" "0" "c.3009C>T" "r.(?)" "p.(Ser1003=)" "" "0000860658" "00010546" "50" "2857" "0" "2857" "0" "c.2857G>A" "r.(?)" "p.(Asp953Asn)" "" "0000860659" "00010546" "30" "2154" "0" "2154" "0" "c.2154A>G" "r.(?)" "p.(Pro718=)" "" "0000887690" "00010546" "30" "4214" "0" "4214" "0" "c.4214T>C" "r.(?)" "p.(Val1405Ala)" "" "0000887691" "00010546" "30" "3465" "0" "3465" "0" "c.3465C>T" "r.(?)" "p.(Phe1155=)" "" "0000887692" "00010546" "30" "1925" "0" "1925" "0" "c.1925C>T" "r.(?)" "p.(Ser642Leu)" "" "0000887693" "00010546" "10" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(Ser552=)" "" "0000915946" "00010546" "70" "4427" "0" "4427" "0" "c.4427dup" "r.(?)" "p.(Glu1477Glyfs*3)" "13" "0000952344" "00010546" "50" "1031" "0" "1031" "0" "c.1031C>G" "r.(?)" "p.(Thr344Ser)" "" "0000952357" "00010546" "50" "1031" "0" "1031" "0" "c.1031C>G" "r.(?)" "p.(Thr344Ser)" "" "0000964455" "00010546" "30" "3277" "-14" "3277" "-14" "c.3277-14C>G" "r.(=)" "p.(=)" "" "0000964458" "00010546" "30" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Asp441=)" "" "0000977538" "00010546" "30" "5186" "0" "5186" "0" "c.5186G>A" "r.(?)" "p.(Arg1729Lys)" "" "0000977539" "00010546" "50" "3450" "0" "3450" "0" "c.3450G>C" "r.(?)" "p.(Gln1150His)" "" "0001036148" "00010546" "30" "2770" "0" "2770" "0" "c.2770G>A" "r.(?)" "p.(Val924Met)" "" "0001036149" "00010546" "30" "1136" "0" "1136" "0" "c.1136C>G" "r.(?)" "p.(Ser379Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{variantid}}" "0000059780" "0000090896" "0000174620" "0000394427" "0000174621" "0000394428" "0000174622" "0000394429" "0000174762" "0000784151" "0000233966" "0000476674" "0000233967" "0000476675" "0000233968" "0000476676" "0000233969" "0000476677" "0000233970" "0000476678" "0000233971" "0000476679" "0000233972" "0000476680" "0000233973" "0000476681" "0000233974" "0000476682" "0000233975" "0000476683" "0000233976" "0000476684" "0000233977" "0000476685" "0000233978" "0000476686" "0000233979" "0000476687" "0000233980" "0000476688" "0000233981" "0000476689" "0000233982" "0000476690" "0000233983" "0000476691" "0000233984" "0000476692" "0000233985" "0000476693" "0000233986" "0000476694" "0000233987" "0000476695" "0000233988" "0000476696" "0000233989" "0000476697" "0000233990" "0000476698" "0000233991" "0000476699" "0000233992" "0000476700" "0000233993" "0000476701" "0000233994" "0000476702" "0000233995" "0000476703" "0000233996" "0000476704" "0000233997" "0000476705" "0000233998" "0000476706" "0000233999" "0000476707" "0000234000" "0000476708" "0000234001" "0000476709" "0000234002" "0000476710" "0000234003" "0000476711" "0000234004" "0000476712" "0000234005" "0000476713" "0000234006" "0000476714" "0000234007" "0000476715" "0000234008" "0000476716" "0000234009" "0000476717" "0000234010" "0000476718" "0000234011" "0000476719" "0000234012" "0000476720" "0000234013" "0000476721" "0000234014" "0000476722" "0000234821" "0000477529" "0000234822" "0000477530" "0000234823" "0000477531" "0000234824" "0000477532" "0000234825" "0000477533" "0000234826" "0000477534" "0000234827" "0000477535" "0000290238" "0000646888" "0000290239" "0000646889" "0000290240" "0000646890" "0000334708" "0000732688" "0000334708" "0000732691" "0000335649" "0000734343" "0000335649" "0000734393" "0000369583" "0000784147" "0000373856" "0000784449" "0000373865" "0000784438" "0000373891" "0000784551" "0000373919" "0000784494" "0000373923" "0000784236" "0000373923" "0000784315" "0000373926" "0000784504" "0000373931" "0000784406" "0000373945" "0000784258" "0000373967" "0000784280" "0000373972" "0000784285" "0000373979" "0000784544" "0000376630" "0000788504" "0000378728" "0000791614" "0000378732" "0000791618" "0000390771" "0000820116" "0000401326" "0000834545" "0000431016" "0000915946" "0000445376" "0000952344" "0000445377" "0000952357"