### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GPR125) # 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}}" "GPR125" "G protein-coupled receptor 125" "4" "p15.31" "unknown" "NC_000004.11" "UD_136023314717" "" "https://www.LOVD.nl/ADGRA3" "" "1" "13839" "166647" "612303" "1" "1" "1" "1" "NOTE: gene name changed from GPR125 to ADGRA3.\r\nThis 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/GPR125_codingDNA.html" "1" "" "NOTE: gene name changed from GPR125 to ADGRA3.\r\nThis database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-09-24 00:00:00" "00006" "2020-11-22 21:11:49" "00000" "2024-02-26 20:06:56" ## 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}}" "00008841" "GPR125" "G protein-coupled receptor 125" "001" "NM_145290.3" "" "NP_660333.2" "" "" "" "-270" "4297" "3966" "22517677" "22388997" "" "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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05153" "MCPH" "microcephaly, primary, autosomal recessive (MCPH)" "" "" "" "" "" "00006" "2016-04-14 15:50:58" "00006" "2016-07-05 08:24:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00059792" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00173866" "" "" "" "2" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP207" "00232558" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232559" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232560" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232561" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232562" "" "" "" "142" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232563" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232564" "" "" "" "19" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232565" "" "" "" "359" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232566" "" "" "" "20" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232567" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232568" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232569" "" "" "" "170" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232570" "" "" "" "103" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232571" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232572" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232573" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232574" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232575" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232576" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232577" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232578" "" "" "" "63" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232579" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233670" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233671" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233672" "" "" "" "53" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233673" "" "" "" "9" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233674" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233675" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00324526" "" "" "" "1" "" "03960" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Japan" ">20y" "0" "" "" "" "patient" "00333479" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "SRF_1099" "00335956" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00335957" "" "" "" "8" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00363585" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00459" "00372633" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP144" "00372662" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP315" "00372695" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP319" "00372706" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP059" "00372708" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP200" "00372714" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP246" "00372716" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP255" "00375412" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#003" "00375426" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#020" "00375435" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#030" "00382548" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "410" "00401208" "" "" "" "1" "" "00006" "{PMID:Naqvi 2022:35089071}" "5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00447612" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1205" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 48 "{{individualid}}" "{{diseaseid}}" "00059792" "00112" "00173866" "04214" "00232558" "04214" "00232559" "04214" "00232560" "04214" "00232561" "04214" "00232562" "04214" "00232563" "04214" "00232564" "04214" "00232565" "04214" "00232566" "04214" "00232567" "04214" "00232568" "04214" "00232569" "04214" "00232570" "04214" "00232571" "04214" "00232572" "04214" "00232573" "04214" "00232574" "04214" "00232575" "04214" "00232576" "04214" "00232577" "04214" "00232578" "04214" "00232579" "04214" "00233670" "04214" "00233671" "04214" "00233672" "04214" "00233673" "04214" "00233674" "04214" "00233675" "04214" "00324526" "04213" "00333479" "04214" "00335956" "04214" "00335957" "04214" "00363585" "04214" "00372633" "04214" "00372662" "04214" "00372695" "04214" "00372706" "04214" "00372708" "04214" "00372714" "04214" "00372716" "04214" "00375412" "04214" "00375426" "04214" "00375435" "04214" "00382548" "04214" "00401208" "05153" "00447612" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 04213, 04214, 05153 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000046284" "00112" "00059792" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138719" "04214" "00173866" "02449" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000243071" "04213" "00324526" "03960" "Familial, autosomal recessive" "" "see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)" "06y" "20y" "photophobia, reduiced visual acuity" "" "" "" "" "" "" "cone dystrophy" "" "0000251664" "04214" "00333479" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000253871" "04214" "00335956" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000253872" "04214" "00335957" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000258935" "04214" "00363585" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000267912" "04214" "00372633" "00000" "Familial, autosomal dominant" "5y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267941" "04214" "00372662" "00000" "Familial, autosomal recessive" "54y" "see paper; ..." "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267974" "04214" "00372695" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267985" "04214" "00372706" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267987" "04214" "00372708" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267993" "04214" "00372714" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267995" "04214" "00372716" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270626" "04214" "00375412" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270640" "04214" "00375426" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270649" "04214" "00375435" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000276397" "04214" "00382548" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000294251" "05153" "00401208" "00006" "Familial, autosomal recessive" "" "see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000336811" "00198" "00447612" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059779" "00059792" "1" "00039" "00008" "2012-09-24 13:54:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000174756" "00173866" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" "" "0000233657" "00232558" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233658" "00232559" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233659" "00232560" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233660" "00232561" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233661" "00232562" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233662" "00232563" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233663" "00232564" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233664" "00232565" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233665" "00232566" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233666" "00232567" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233667" "00232568" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233668" "00232569" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233669" "00232570" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233670" "00232571" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233671" "00232572" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233672" "00232573" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233673" "00232574" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233674" "00232575" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233675" "00232576" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233676" "00232577" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233677" "00232578" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233678" "00232579" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234769" "00233670" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234770" "00233671" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234771" "00233672" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234772" "00233673" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234773" "00233674" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234774" "00233675" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000325718" "00324526" "1" "03960" "03960" "2020-12-18 10:26:14" "00006" "2021-01-05 14:19:27" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000334704" "00333479" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" "" "0000337186" "00335956" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000337187" "00335957" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364813" "00363585" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373865" "00372633" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373894" "00372662" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373927" "00372695" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373938" "00372706" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373940" "00372708" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373946" "00372714" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373948" "00372716" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376609" "00375412" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376623" "00375426" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376632" "00375435" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000383762" "00382548" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000402452" "00401208" "1" "00006" "00006" "2022-01-29 16:26:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449189" "00447612" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000059779" "GPR125" "0000174756" "MERTK" "0000233657" "GPR125" "0000233658" "GPR125" "0000233659" "GPR125" "0000233660" "GPR125" "0000233661" "GPR125" "0000233662" "GPR125" "0000233663" "GPR125" "0000233664" "GPR125" "0000233665" "GPR125" "0000233666" "GPR125" "0000233667" "GPR125" "0000233668" "GPR125" "0000233669" "GPR125" "0000233670" "GPR125" "0000233671" "GPR125" "0000233672" "GPR125" "0000233673" "GPR125" "0000233674" "GPR125" "0000233675" "GPR125" "0000233676" "GPR125" "0000233677" "GPR125" "0000233678" "GPR125" "0000234769" "GPR125" "0000234770" "GPR125" "0000234771" "GPR125" "0000234772" "GPR125" "0000234773" "GPR125" "0000234774" "GPR125" "0000325718" "POC1B" "0000334704" "GPR125" "0000337186" "GPR125" "0000337187" "GPR125" "0000364813" "GPR125" "0000383762" "GPR125" ## 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 = 87 "{{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}}" "0000090895" "3" "90" "4" "22394291" "22394291" "subst" "8.58509E-5" "00039" "GPR125_000001" "g.22394291G>C" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Unknown" "" "" "0" "" "" "g.22392668G>C" "" "pathogenic" "" "0000246248" "0" "10" "4" "22390204" "22390204" "subst" "0" "02330" "GPR125_000018" "g.22390204A>T" "" "" "" "ADGRA3(NM_145290.4):c.3090T>A (p.V1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22388581A>T" "" "benign" "" "0000257358" "0" "10" "4" "22389311" "22389311" "subst" "0.00180656" "02330" "GPR125_000002" "g.22389311T>C" "" "" "" "ADGRA3(NM_145290.4):c.*17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22387688T>C" "" "benign" "" "0000257359" "0" "30" "4" "22439915" "22439915" "subst" "0.000651047" "02330" "GPR125_000023" "g.22439915G>A" "" "" "" "ADGRA3(NM_145290.4):c.1049C>T (p.P350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22438292G>A" "" "likely benign" "" "0000257360" "0" "30" "4" "22438260" "22438260" "subst" "1.62916E-5" "02330" "GPR125_000014" "g.22438260G>A" "" "" "" "ADGRA3(NM_145290.4):c.1090C>T (p.P364S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22436637G>A" "" "likely benign" "" "0000257362" "0" "30" "4" "22403143" "22403143" "subst" "0.000319267" "02330" "GPR125_000020" "g.22403143G>A" "" "" "" "ADGRA3(NM_145290.4):c.2392C>T (p.L798F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22401520G>A" "" "likely benign" "" "0000257363" "0" "10" "4" "22394242" "22394242" "subst" "0.000223534" "02330" "GPR125_000010" "g.22394242G>A" "" "" "" "ADGRA3(NM_145290.4):c.2553C>T (p.Y851=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22392619G>A" "" "benign" "" "0000257364" "0" "10" "4" "22390767" "22390767" "subst" "0.000191321" "02330" "GPR125_000019" "g.22390767G>A" "" "" "" "ADGRA3(NM_145290.4):c.2667C>T (p.C889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22389144G>A" "" "benign" "" "0000257365" "0" "30" "4" "22390279" "22390279" "subst" "0.000510179" "02330" "GPR125_000009" "g.22390279T>C" "" "" "" "ADGRA3(NM_145290.4):c.3015A>G (p.L1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22388656T>C" "" "likely benign" "" "0000257366" "0" "10" "4" "22389826" "22389826" "subst" "0.000695767" "02330" "GPR125_000007" "g.22389826C>T" "" "" "" "ADGRA3(NM_145290.4):c.3468G>A (p.A1156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22388203C>T" "" "benign" "" "0000257367" "0" "10" "4" "22389739" "22389739" "subst" "0" "02330" "GPR125_000006" "g.22389739T>A" "" "" "" "ADGRA3(NM_145290.4):c.3555A>T (p.T1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22388116T>A" "" "benign" "" "0000257368" "0" "30" "4" "22389707" "22389707" "subst" "0.000573241" "02330" "GPR125_000005" "g.22389707G>C" "" "" "" "ADGRA3(NM_145290.4):c.3587C>G (p.T1196R), GPR125(NM_145290.3):c.3587C>G (p.(Thr1196Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22388084G>C" "" "likely benign" "" "0000257369" "0" "30" "4" "22389468" "22389468" "subst" "0.00022769" "02330" "GPR125_000004" "g.22389468T>G" "" "" "" "ADGRA3(NM_145290.4):c.3826A>C (p.N1276H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22387845T>G" "" "likely benign" "" "0000257370" "0" "10" "4" "22449130" "22449130" "subst" "0.000527407" "02330" "GPR125_000017" "g.22449130G>T" "" "" "" "ADGRA3(NM_145290.4):c.478C>A (p.L160I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22447507G>T" "" "benign" "" "0000257371" "0" "10" "4" "22446621" "22446621" "subst" "0.00325285" "02330" "GPR125_000026" "g.22446621G>A" "" "" "" "ADGRA3(NM_145290.4):c.681C>T (p.G227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22444998G>A" "" "benign" "" "0000257372" "0" "30" "4" "22444327" "22444327" "subst" "0.00168922" "02330" "GPR125_000025" "g.22444327G>A" "" "" "" "ADGRA3(NM_145290.4):c.866C>T (p.S289L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22442704G>A" "" "likely benign" "" "0000257373" "0" "10" "4" "22444265" "22444266" "del" "0" "02330" "GPR125_000024" "g.22444265_22444266del" "" "" "" "ADGRA3(NM_145290.4):c.920+20_920+21delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22442642_22442643del" "" "benign" "" "0000261992" "0" "30" "4" "22422680" "22422680" "subst" "7.72779E-5" "01943" "GPR125_000021" "g.22422680G>A" "" "" "" "ADGRA3(NM_145290.3):c.1638C>T (p.V546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22421057G>A" "" "likely benign" "" "0000261993" "0" "30" "4" "22390174" "22390174" "subst" "0.00711472" "01943" "GPR125_000008" "g.22390174C>T" "" "" "" "ADGRA3(NM_145290.3):c.3120G>A (p.A1040=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22388551C>T" "" "likely benign" "" "0000277414" "0" "10" "4" "22425837" "22425837" "subst" "0.00149661" "02330" "GPR125_000012" "g.22425837C>T" "" "" "" "ADGRA3(NM_145290.4):c.1582G>A (p.G528S), GPR125(NM_145290.3):c.1582G>A (p.G528S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22424214C>T" "" "benign" "" "0000277415" "0" "10" "4" "22444334" "22444334" "subst" "8.14001E-5" "02330" "GPR125_000016" "g.22444334C>T" "" "" "" "ADGRA3(NM_145290.4):c.859G>A (p.D287N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22442711C>T" "" "benign" "" "0000288620" "0" "30" "4" "22436925" "22436927" "del" "0" "01943" "GPR125_000013" "g.22436925_22436927del" "" "" "" "GPR125(NM_145290.3):c.1443+7_1443+9delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22435302_22435304del" "" "likely benign" "" "0000288621" "0" "30" "4" "22425837" "22425837" "subst" "0.00149661" "01943" "GPR125_000012" "g.22425837C>T" "" "" "" "ADGRA3(NM_145290.4):c.1582G>A (p.G528S), GPR125(NM_145290.3):c.1582G>A (p.G528S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22424214C>T" "" "likely benign" "" "0000288622" "0" "50" "4" "22422615" "22422615" "subst" "0.00081314" "01943" "GPR125_000011" "g.22422615C>T" "" "" "" "GPR125(NM_145290.3):c.1703G>A (p.R568H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22420992C>T" "" "VUS" "" "0000288623" "0" "50" "4" "22389387" "22389387" "subst" "0.000703201" "01943" "GPR125_000003" "g.22389387C>A" "" "" "" "GPR125(NM_145290.3):c.3907G>T (p.G1303C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22387764C>A" "" "VUS" "" "0000288624" "0" "50" "4" "22456492" "22456492" "subst" "0.000580989" "01943" "GPR125_000027" "g.22456492C>T" "" "" "" "GPR125(NM_145290.3):c.470G>A (p.R157Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22454869C>T" "" "VUS" "" "0000288625" "0" "50" "4" "22439975" "22439975" "subst" "0.000459409" "01943" "GPR125_000015" "g.22439975C>T" "" "" "" "ADGRA3(NM_145290.4):c.989G>A (p.R330H), GPR125(NM_145290.3):c.989G>A (p.R330H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22438352C>T" "" "VUS" "" "0000329921" "0" "50" "4" "22389707" "22389707" "subst" "0.000573241" "01804" "GPR125_000005" "g.22389707G>C" "" "" "" "ADGRA3(NM_145290.4):c.3587C>G (p.T1196R), GPR125(NM_145290.3):c.3587C>G (p.(Thr1196Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22388084G>C" "" "VUS" "" "0000476365" "0" "50" "4" "22389387" "22389387" "subst" "4.87769E-5" "02591" "GPR125_000028" "g.22389387C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147716223" "0" "" "" "g.22387764C>T" "" "VUS" "" "0000476366" "0" "50" "4" "22389401" "22389401" "subst" "4.06382E-6" "02591" "GPR125_000029" "g.22389401T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.22387778T>G" "" "VUS" "" "0000476367" "0" "50" "4" "22389632" "22389632" "subst" "0.00347338" "02591" "GPR125_000030" "g.22389632C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs140656046" "0" "" "" "g.22388009C>T" "" "VUS" "" "0000476368" "0" "50" "4" "22389702" "22389702" "subst" "4.87825E-5" "02591" "GPR125_000031" "g.22389702C>T" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs747139796" "0" "" "" "g.22388079C>T" "" "VUS" "" "0000476369" "0" "50" "4" "22389797" "22389797" "subst" "0.020055" "02591" "GPR125_000032" "g.22389797A>C" "142/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs3814416" "0" "" "" "g.22388174A>C" "" "VUS" "" "0000476370" "0" "50" "4" "22390013" "22390013" "subst" "0.000203401" "02591" "GPR125_000033" "g.22390013G>A" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs141619991" "0" "" "" "g.22388390G>A" "" "VUS" "" "0000476371" "0" "50" "4" "22390049" "22390049" "subst" "0.000874923" "02591" "GPR125_000034" "g.22390049G>A" "19/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs117576731" "0" "" "" "g.22388426G>A" "" "VUS" "" "0000476372" "0" "50" "4" "22390167" "22390167" "subst" "0.229546" "02591" "GPR125_000035" "g.22390167C>T" "359/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs9002" "0" "" "" "g.22388544C>T" "" "VUS" "" "0000476373" "0" "50" "4" "22390250" "22390250" "subst" "2.85619E-5" "02591" "GPR125_000036" "g.22390250A>G" "20/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201588033" "0" "" "" "g.22388627A>G" "" "VUS" "" "0000476374" "0" "50" "4" "22390493" "22390493" "subst" "9.36345E-5" "02591" "GPR125_000037" "g.22390493T>C" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs137992274" "0" "" "" "g.22388870T>C" "" "VUS" "" "0000476375" "0" "50" "4" "22390714" "22390714" "subst" "0" "02591" "GPR125_000038" "g.22390714G>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.22389091G>T" "" "VUS" "" "0000476376" "0" "50" "4" "22394239" "22394239" "subst" "0.010313" "02591" "GPR125_000039" "g.22394239T>G" "170/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs117922332" "0" "" "" "g.22392616T>G" "" "VUS" "" "0000476377" "0" "50" "4" "22404391" "22404391" "subst" "0.0175754" "02591" "GPR125_000040" "g.22404391G>A" "103/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61736468" "0" "" "" "g.22402768G>A" "" "VUS" "" "0000476378" "0" "50" "4" "22415247" "22415247" "subst" "0" "02591" "GPR125_000041" "g.22415247G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.22413624G>A" "" "VUS" "" "0000476379" "0" "50" "4" "22422612" "22422612" "subst" "0.000154487" "02591" "GPR125_000042" "g.22422612G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200835396" "0" "" "" "g.22420989G>A" "" "VUS" "" "0000476380" "0" "50" "4" "22425837" "22425837" "subst" "0.00149661" "02591" "GPR125_000012" "g.22425837C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61745011" "0" "" "" "g.22424214C>T" "" "VUS" "" "0000476381" "0" "50" "4" "22439915" "22439915" "subst" "0.000651047" "02591" "GPR125_000023" "g.22439915G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147843055" "0" "" "" "g.22438292G>A" "" "VUS" "" "0000476382" "0" "50" "4" "22440014" "22440014" "subst" "4.06686E-6" "02591" "GPR125_000043" "g.22440014C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs756306946" "0" "" "" "g.22438391C>T" "" "VUS" "" "0000476383" "0" "50" "4" "22444374" "22444374" "subst" "0" "02591" "GPR125_000044" "g.22444374C>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.22442751C>A" "" "VUS" "" "0000476384" "0" "50" "4" "22444385" "22444385" "subst" "0" "02591" "GPR125_000045" "g.22444385C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.22442762C>G" "" "VUS" "" "0000476385" "0" "50" "4" "22446703" "22446703" "subst" "0.000247887" "02591" "GPR125_000046" "g.22446703C>T" "63/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147390035" "0" "" "" "g.22445080C>T" "" "VUS" "" "0000476386" "0" "50" "4" "22517239" "22517239" "subst" "5.30129E-5" "02591" "GPR125_000047" "g.22517239C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs537261703" "0" "" "" "g.22515616C>T" "" "VUS" "" "0000477477" "3" "50" "4" "22389797" "22389797" "subst" "0.020055" "02591" "GPR125_000032" "g.22389797A>C" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs3814416" "0" "" "" "g.22388174A>C" "" "VUS" "" "0000477478" "3" "50" "4" "22390049" "22390049" "subst" "0.000874923" "02591" "GPR125_000034" "g.22390049G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs117576731" "0" "" "" "g.22388426G>A" "" "VUS" "" "0000477479" "3" "50" "4" "22390167" "22390167" "subst" "0.229546" "02591" "GPR125_000035" "g.22390167C>T" "53/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs9002" "0" "" "" "g.22388544C>T" "" "VUS" "" "0000477480" "3" "50" "4" "22394239" "22394239" "subst" "0.010313" "02591" "GPR125_000039" "g.22394239T>G" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs117922332" "0" "" "" "g.22392616T>G" "" "VUS" "" "0000477481" "3" "50" "4" "22404391" "22404391" "subst" "0.0175754" "02591" "GPR125_000040" "g.22404391G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61736468" "0" "" "" "g.22402768G>A" "" "VUS" "" "0000477482" "3" "50" "4" "22446703" "22446703" "subst" "0.000247887" "02591" "GPR125_000046" "g.22446703C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147390035" "0" "" "" "g.22445080C>T" "" "VUS" "" "0000522401" "0" "30" "4" "22437059" "22437060" "ins" "0" "02330" "GPR125_000048" "g.22437059_22437060insGGCGAGCTGT" "" "" "" "ADGRA3(NM_145290.4):c.1325_1326insCCACAGCTCG (p.Q443Hfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22435436_22435437insGGCGAGCTGT" "" "likely benign" "" "0000522402" "0" "10" "4" "22438281" "22438281" "subst" "0" "02330" "GPR125_000049" "g.22438281A>C" "" "" "" "ADGRA3(NM_145290.4):c.1086-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22436658A>C" "" "benign" "" "0000522403" "0" "50" "4" "22439975" "22439975" "subst" "0.000459409" "02330" "GPR125_000015" "g.22439975C>T" "" "" "" "ADGRA3(NM_145290.4):c.989G>A (p.R330H), GPR125(NM_145290.3):c.989G>A (p.R330H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22438352C>T" "" "VUS" "" "0000621387" "0" "10" "4" "22436961" "22436961" "subst" "0" "02330" "GPR125_000050" "g.22436961T>C" "" "" "" "ADGRA3(NM_145290.4):c.1416A>G (p.R472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22435338T>C" "" "benign" "" "0000710806" "0" "50" "4" "22390013" "22390013" "subst" "0.000203401" "00006" "GPR125_000033" "g.22390013G>A" "" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "" "C3281T" "" "Germline" "" "rs141619991" "0" "" "" "" "" "VUS" "" "0000732684" "1" "70" "4" "22422659" "22422659" "subst" "0" "00000" "GPR125_000052" "g.22422659C>T" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "" "" "0" "" "" "g.22421036C>T" "" "likely pathogenic" "" "0000732703" "2" "70" "4" "22390451" "22390451" "subst" "4.0702E-6" "00000" "GPR125_000051" "g.22390451C>T" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "" "" "0" "" "" "g.22388828C>T" "" "likely pathogenic" "" "0000736816" "1" "50" "4" "22517312" "22517320" "del" "0" "00000" "GPR125_000053" "g.22517312_22517320del" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.22515689_22515697del" "" "VUS" "" "0000736817" "0" "50" "4" "22517318" "22517320" "del" "0" "00000" "GPR125_000054" "g.22517318_22517320del" "8/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs769005255" "0" "" "" "g.22515695_22515697del" "" "VUS" "" "0000765755" "0" "70" "4" "22394291" "22394291" "subst" "8.58509E-5" "00000" "GPR125_000001" "g.22394291G>C" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.22392668G>C" "" "likely pathogenic" "" "0000784138" "0" "70" "4" "22446742" "22446742" "subst" "0" "00000" "GPR125_000058" "g.22446742T>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.22445119T>G" "" "likely pathogenic (recessive)" "" "0000784240" "0" "70" "4" "22390745" "22390745" "subst" "3.25526E-5" "00000" "GPR125_000056" "g.22390745T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.22389122T>C" "" "likely pathogenic (recessive)" "" "0000784251" "0" "70" "4" "22403104" "22403104" "subst" "4.07933E-6" "00000" "GPR125_000057" "g.22403104C>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.22401481C>A" "" "likely pathogenic (recessive)" "" "0000784259" "0" "70" "4" "22390493" "22390493" "subst" "9.36345E-5" "00000" "GPR125_000037" "g.22390493T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs137992274" "0" "" "" "g.22388870T>C" "" "likely pathogenic (recessive)" "" "0000784329" "0" "70" "4" "22444334" "22444334" "subst" "8.14001E-5" "00000" "GPR125_000016" "g.22444334C>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs138542858" "0" "" "" "g.22442711C>T" "" "likely pathogenic (recessive)" "" "0000784357" "0" "70" "4" "22403104" "22403104" "subst" "4.07933E-6" "00000" "GPR125_000057" "g.22403104C>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.22401481C>A" "" "likely pathogenic (recessive)" "" "0000784363" "0" "70" "4" "22389626" "22389626" "subst" "0" "00000" "GPR125_000055" "g.22389626G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.22388003G>A" "" "likely pathogenic (recessive)" "" "0000784475" "0" "50" "4" "22444334" "22444334" "subst" "8.14001E-5" "00000" "GPR125_000016" "g.22444334C>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs138542858" "0" "" "" "g.22442711C>T" "" "VUS" "" "0000788337" "0" "50" "4" "22389702" "22389702" "subst" "4.87825E-5" "00000" "GPR125_000031" "g.22389702C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G3592A" "" "Germline" "" "" "0" "" "" "g.22388079C>T" "" "VUS" "" "0000788452" "0" "50" "4" "22390013" "22390013" "subst" "0.000203401" "00000" "GPR125_000033" "g.22390013G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C3281T" "" "Germline" "" "rs141619991" "0" "" "" "g.22388390G>A" "" "VUS" "" "0000788516" "0" "50" "4" "22390493" "22390493" "subst" "9.36345E-5" "00000" "GPR125_000037" "g.22390493T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A2801G" "" "Germline" "" "rs137992274" "0" "" "" "g.22388870T>C" "" "VUS" "" "0000798009" "0" "70" "4" "22403143" "22403143" "subst" "0.000319267" "00000" "GPR125_000020" "g.22403143G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "GPR125 c.2392C>T, p.(Leu798Phe)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.22401520G>A" "" "likely pathogenic" "ACMG" "0000836613" "3" "30" "4" "22404353" "22404353" "subst" "0.00107303" "00006" "GPR125_000059" "g.22404353T>C" "" "{PMID:Naqvi 2022:35089071}" "" "" "" "Germline" "" "rs200151762" "0" "" "" "" "" "likely benign" "" "0000859404" "0" "30" "4" "22389814" "22389814" "subst" "5.28915E-5" "02330" "GPR125_000060" "g.22389814A>G" "" "" "" "ADGRA3(NM_145290.4):c.3480T>C (p.V1160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859405" "0" "30" "4" "22425829" "22425829" "subst" "0" "02330" "GPR125_000061" "g.22425829A>G" "" "" "" "ADGRA3(NM_145290.4):c.1590T>C (p.A530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859406" "0" "30" "4" "22444467" "22444467" "subst" "0.000228413" "02330" "GPR125_000062" "g.22444467C>T" "" "" "" "ADGRA3(NM_145290.4):c.726G>A (p.P242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859407" "0" "30" "4" "22517306" "22517306" "subst" "0" "02330" "GPR125_000063" "g.22517306G>T" "" "" "" "ADGRA3(NM_145290.4):c.102C>A (p.G34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886255" "0" "30" "4" "22444260" "22444260" "subst" "0" "02330" "GPR125_000064" "g.22444260A>T" "" "" "" "ADGRA3(NM_145290.4):c.920+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959396" "0" "50" "4" "22394194" "22394194" "dup" "0" "00006" "GPR125_000065" "g.22394194dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.22392571dup" "" "VUS" "ACMG" "0000963130" "0" "30" "4" "22390393" "22390393" "subst" "0.000745059" "02330" "GPR125_000066" "g.22390393A>G" "" "" "" "ADGRA3(NM_145290.4):c.2901T>C (p.N967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963131" "0" "30" "4" "22394175" "22394175" "subst" "0.00028089" "02330" "GPR125_000067" "g.22394175T>C" "" "" "" "ADGRA3(NM_145290.4):c.2620A>G (p.M874V)" "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 GPR125 ## Count = 87 "{{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}}" "0000090895" "00008841" "90" "2504" "0" "2504" "0" "c.2504C>G" "r.(?)" "p.(Ser835Cys)" "17" "0000246248" "00008841" "10" "3090" "0" "3090" "0" "c.3090T>A" "r.(?)" "p.(Val1030=)" "" "0000257358" "00008841" "10" "3983" "0" "3983" "0" "c.*17A>G" "r.(=)" "p.(=)" "" "0000257359" "00008841" "30" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Pro350Leu)" "" "0000257360" "00008841" "30" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Pro364Ser)" "" "0000257362" "00008841" "30" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Leu798Phe)" "" "0000257363" "00008841" "10" "2553" "0" "2553" "0" "c.2553C>T" "r.(?)" "p.(Tyr851=)" "" "0000257364" "00008841" "10" "2667" "0" "2667" "0" "c.2667C>T" "r.(?)" "p.(Cys889=)" "" "0000257365" "00008841" "30" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(Leu1005=)" "" "0000257366" "00008841" "10" "3468" "0" "3468" "0" "c.3468G>A" "r.(?)" "p.(Ala1156=)" "" "0000257367" "00008841" "10" "3555" "0" "3555" "0" "c.3555A>T" "r.(?)" "p.(Thr1185=)" "" "0000257368" "00008841" "30" "3587" "0" "3587" "0" "c.3587C>G" "r.(?)" "p.(Thr1196Arg)" "" "0000257369" "00008841" "30" "3826" "0" "3826" "0" "c.3826A>C" "r.(?)" "p.(Asn1276His)" "" "0000257370" "00008841" "10" "478" "0" "478" "0" "c.478C>A" "r.(?)" "p.(Leu160Ile)" "" "0000257371" "00008841" "10" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(Gly227=)" "" "0000257372" "00008841" "30" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "" "0000257373" "00008841" "10" "920" "20" "920" "21" "c.920+20_920+21del" "r.(=)" "p.(=)" "" "0000261992" "00008841" "30" "1638" "0" "1638" "0" "c.1638C>T" "r.(?)" "p.(Val546=)" "" "0000261993" "00008841" "30" "3120" "0" "3120" "0" "c.3120G>A" "r.(?)" "p.(Ala1040=)" "" "0000277414" "00008841" "10" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Gly528Ser)" "" "0000277415" "00008841" "10" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Asp287Asn)" "" "0000288620" "00008841" "30" "1443" "7" "1443" "9" "c.1443+7_1443+9del" "r.(=)" "p.(=)" "" "0000288621" "00008841" "30" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Gly528Ser)" "" "0000288622" "00008841" "50" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568His)" "" "0000288623" "00008841" "50" "3907" "0" "3907" "0" "c.3907G>T" "r.(?)" "p.(Gly1303Cys)" "" "0000288624" "00008841" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157Gln)" "" "0000288625" "00008841" "50" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330His)" "" "0000329921" "00008841" "50" "3587" "0" "3587" "0" "c.3587C>G" "r.(?)" "p.(Thr1196Arg)" "" "0000476365" "00008841" "50" "3907" "0" "3907" "0" "c.3907G>A" "r.(?)" "p.(Gly1303Ser)" "" "0000476366" "00008841" "50" "3893" "0" "3893" "0" "c.3893A>C" "r.(?)" "p.(Glu1298Ala)" "" "0000476367" "00008841" "50" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221Gln)" "" "0000476368" "00008841" "50" "3592" "0" "3592" "0" "c.3592G>A" "r.(?)" "p.(Val1198Met)" "" "0000476369" "00008841" "50" "3497" "0" "3497" "0" "c.3497T>G" "r.(?)" "p.(Val1166Gly)" "" "0000476370" "00008841" "50" "3281" "0" "3281" "0" "c.3281C>T" "r.(?)" "p.(Ala1094Val)" "" "0000476371" "00008841" "50" "3245" "0" "3245" "0" "c.3245C>T" "r.(?)" "p.(Thr1082Met)" "" "0000476372" "00008841" "50" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Val1043Met)" "" "0000476373" "00008841" "50" "3044" "0" "3044" "0" "c.3044T>C" "r.(?)" "p.(Leu1015Ser)" "" "0000476374" "00008841" "50" "2801" "0" "2801" "0" "c.2801A>G" "r.(?)" "p.(Tyr934Cys)" "" "0000476375" "00008841" "50" "2720" "0" "2720" "0" "c.2720C>A" "r.(?)" "p.(Pro907His)" "" "0000476376" "00008841" "50" "2556" "0" "2556" "0" "c.2556A>C" "r.(?)" "p.(Lys852Asn)" "" "0000476377" "00008841" "50" "2264" "0" "2264" "0" "c.2264C>T" "r.(?)" "p.(Ala755Val)" "" "0000476378" "00008841" "50" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Thr667Ile)" "" "0000476379" "00008841" "50" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Thr569Ile)" "" "0000476380" "00008841" "50" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Gly528Ser)" "" "0000476381" "00008841" "50" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Pro350Leu)" "" "0000476382" "00008841" "50" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Gly317Glu)" "" "0000476383" "00008841" "50" "819" "0" "819" "0" "c.819G>T" "r.(?)" "p.(Met273Ile)" "" "0000476384" "00008841" "50" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Asp270His)" "" "0000476385" "00008841" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200His)" "" "0000476386" "00008841" "50" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Ser)" "" "0000477477" "00008841" "50" "3497" "0" "3497" "0" "c.3497T>G" "r.(?)" "p.(Val1166Gly)" "" "0000477478" "00008841" "50" "3245" "0" "3245" "0" "c.3245C>T" "r.(?)" "p.(Thr1082Met)" "" "0000477479" "00008841" "50" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Val1043Met)" "" "0000477480" "00008841" "50" "2556" "0" "2556" "0" "c.2556A>C" "r.(?)" "p.(Lys852Asn)" "" "0000477481" "00008841" "50" "2264" "0" "2264" "0" "c.2264C>T" "r.(?)" "p.(Ala755Val)" "" "0000477482" "00008841" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200His)" "" "0000522401" "00008841" "30" "1325" "0" "1326" "0" "c.1325_1326insCCACAGCTCG" "r.(?)" "p.(Gln443HisfsTer17)" "" "0000522402" "00008841" "10" "1086" "-17" "1086" "-17" "c.1086-17T>G" "r.(=)" "p.(=)" "" "0000522403" "00008841" "50" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330His)" "" "0000621387" "00008841" "10" "1416" "0" "1416" "0" "c.1416A>G" "r.(?)" "p.(Arg472=)" "" "0000710806" "00008841" "50" "3281" "0" "3281" "0" "c.3281C>T" "r.(?)" "p.(Ala1094Val)" "19" "0000732684" "00008841" "70" "1659" "0" "1659" "0" "c.1659G>A" "r.[(=,1755_1809del)]" "p.?" "" "0000732703" "00008841" "70" "2843" "0" "2843" "0" "c.2843G>A" "r.(?)" "p.(Arg948His)" "" "0000736816" "00008841" "50" "98" "0" "106" "0" "c.98_106del" "r.(?)" "p.(Gly33_Gly35del)" "" "0000736817" "00008841" "50" "104" "0" "106" "0" "c.104_106del" "r.(?)" "p.(Gly35del)" "" "0000765755" "00008841" "70" "2504" "0" "2504" "0" "c.2504C>G" "r.(?)" "p.(Ser835Cys)" "" "0000784138" "00008841" "70" "560" "0" "560" "0" "c.560A>C" "r.(?)" "p.(Glu187Ala)" "" "0000784240" "00008841" "70" "2689" "0" "2689" "0" "c.2689A>G" "r.(?)" "p.(Ile897Val)" "" "0000784251" "00008841" "70" "2431" "0" "2431" "0" "c.2431G>T" "r.(?)" "p.(Val811Phe)" "" "0000784259" "00008841" "70" "2801" "0" "2801" "0" "c.2801A>G" "r.(?)" "p.(Tyr934Cys)" "" "0000784329" "00008841" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Asp287Asn)" "" "0000784357" "00008841" "70" "2431" "0" "2431" "0" "c.2431G>T" "r.(?)" "p.(Val811Phe)" "" "0000784363" "00008841" "70" "3668" "0" "3668" "0" "c.3668C>T" "r.(?)" "p.(Ala1223Val)" "" "0000784475" "00008841" "50" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Asp287Asn)" "" "0000788337" "00008841" "50" "3592" "0" "3592" "0" "c.3592G>A" "r.(?)" "p.(Val1198Met)" "19" "0000788452" "00008841" "50" "3281" "0" "3281" "0" "c.3281C>T" "r.(?)" "p.(Ala1094Val)" "19" "0000788516" "00008841" "50" "2801" "0" "2801" "0" "c.2801A>G" "r.(?)" "p.(Tyr934Cys)" "19" "0000798009" "00008841" "70" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Leu798Phe)" "" "0000836613" "00008841" "30" "2302" "0" "2302" "0" "c.2302A>G" "r.(?)" "p.(Ile768Val)" "" "0000859404" "00008841" "30" "3480" "0" "3480" "0" "c.3480T>C" "r.(?)" "p.(Val1160=)" "" "0000859405" "00008841" "30" "1590" "0" "1590" "0" "c.1590T>C" "r.(?)" "p.(Ala530=)" "" "0000859406" "00008841" "30" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(Pro242=)" "" "0000859407" "00008841" "30" "102" "0" "102" "0" "c.102C>A" "r.(?)" "p.(Gly34=)" "" "0000886255" "00008841" "30" "920" "13" "920" "13" "c.920+13T>A" "r.(=)" "p.(=)" "" "0000959396" "00008841" "50" "2601" "0" "2601" "0" "c.2601dup" "r.(?)" "p.(Pro868ThrfsTer31)" "" "0000963130" "00008841" "30" "2901" "0" "2901" "0" "c.2901T>C" "r.(?)" "p.(=)" "" "0000963131" "00008841" "30" "2620" "0" "2620" "0" "c.2620A>G" "r.(?)" "p.(Met874Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{variantid}}" "0000059779" "0000090895" "0000174756" "0000784138" "0000233657" "0000476365" "0000233658" "0000476366" "0000233659" "0000476367" "0000233660" "0000476368" "0000233661" "0000476369" "0000233662" "0000476370" "0000233663" "0000476371" "0000233664" "0000476372" "0000233665" "0000476373" "0000233666" "0000476374" "0000233667" "0000476375" "0000233668" "0000476376" "0000233669" "0000476377" "0000233670" "0000476378" "0000233671" "0000476379" "0000233672" "0000476380" "0000233673" "0000476381" "0000233674" "0000476382" "0000233675" "0000476383" "0000233676" "0000476384" "0000233677" "0000476385" "0000233678" "0000476386" "0000234769" "0000477477" "0000234770" "0000477478" "0000234771" "0000477479" "0000234772" "0000477480" "0000234773" "0000477481" "0000234774" "0000477482" "0000325718" "0000710806" "0000334704" "0000732684" "0000334704" "0000732703" "0000337186" "0000736816" "0000337187" "0000736817" "0000364813" "0000765755" "0000373865" "0000784357" "0000373894" "0000784329" "0000373927" "0000784240" "0000373938" "0000784251" "0000373940" "0000784363" "0000373946" "0000784259" "0000373948" "0000784475" "0000376609" "0000788337" "0000376623" "0000788452" "0000376632" "0000788516" "0000383762" "0000798009" "0000402452" "0000836613" "0000449189" "0000959396"