### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRID2) # 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}}" "GRID2" "glutamate receptor, ionotropic, delta 2" "4" "q22" "unknown" "NC_000004.11" "UD_132609808809" "" "http://www.LOVD.nl/GRID2" "" "1" "4576" "2895" "602368" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-11-10 13:08:18" "00006" "2025-12-19 18:53:31" ## 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}}" "00008931" "GRID2" "glutamate receptor, ionotropic, delta 2" "001" "NM_001510.2" "" "NP_001501.2" "" "" "" "-258" "3024" "3024" "93225550" "94693649" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "04494" "SCAR18" "ataxia, spinocerebellar, autosomal recessive, type 18 (SCAR-18)" "AR" "616204" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05101" "-" "adermatoglyphia, congenital facial milia, acral blisters, digital contractures, nail abnormalities (Basan syndrome)" "AD" "129200" "" "" "" "00006" "2015-11-10 10:55:30" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GRID2" "04494" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00054657" "" "" "" "1" "" "01457" "" "" "F" "no" "China" "" "0" "Pedigree" "No" "Chinese Han" "" "00467786" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam041PatBAB6883" "00471331" "" "" "" "2" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, affected sib, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "CB-DYS-117" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00054657" "05101" "00467786" "05611" "00471331" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 04494, 05101, 05611 ## Count = 3 "{{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}}" "0000041390" "05101" "00054657" "01457" "Unknown" "" "Basan Syndrome" "" "" "" "" "" "" "" "" "" "0000352939" "05611" "00467786" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SCAR18" "neurodevelopmental disorder" "0000356168" "00108" "00471331" "00006" "Familial, autosomal recessive" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "SCAR18" "dystonia" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054606" "00054657" "1" "01457" "01457" "2015-11-07 12:16:06" "00006" "2016-01-27 06:03:53" "SEQ" "DNA" "Blood" "" "0000469452" "00467786" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473001" "00471331" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "quartet WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000054606" "SMARCAD1" ## 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 = 32 "{{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}}" "0000084553" "21" "90" "4" "94253672" "94253672" "subst" "0" "01457" "GRID2_000001" "g.94253672G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.93332521G>T" "" "pathogenic" "" "0000281141" "0" "10" "4" "94316763" "94316763" "subst" "0.661366" "02325" "GRID2_000004" "g.94316763T>G" "" "" "" "GRID2(NM_001510.4):c.1251T>G (p.G417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93395612T>G" "" "benign" "" "0000281142" "0" "10" "4" "94032125" "94032125" "subst" "0.46764" "02325" "GRID2_000002" "g.94032125G>C" "" "" "" "GRID2(NM_001510.4):c.735+21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93110974G>C" "" "benign" "" "0000288768" "0" "30" "4" "94159530" "94159530" "subst" "0.000114588" "01943" "GRID2_000003" "g.94159530T>C" "" "" "" "GRID2(NM_001510.3):c.1134T>C (p.V378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93238379T>C" "" "likely benign" "" "0000288769" "0" "50" "4" "94436461" "94436461" "subst" "0" "01943" "GRID2_000005" "g.94436461C>T" "" "" "" "GRID2(NM_001510.3):c.2092C>T (p.P698S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93515310C>T" "" "VUS" "" "0000523563" "0" "30" "4" "94006333" "94006333" "subst" "8.12975E-5" "01943" "GRID2_000006" "g.94006333C>G" "" "" "" "GRID2(NM_001510.3):c.432C>G (p.L144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93085182C>G" "" "likely benign" "" "0000523564" "0" "50" "4" "94006432" "94006432" "subst" "0" "01804" "GRID2_000007" "g.94006432T>C" "" "" "" "GRID2(NM_001510.2):c.529+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93085281T>C" "" "VUS" "" "0000523565" "0" "10" "4" "94411809" "94411809" "subst" "0.00223158" "01943" "GRID2_000008" "g.94411809G>A" "" "" "" "GRID2(NM_001510.3):c.1878G>A (p.T626=), GRID2(NM_001510.4):c.1878G>A (p.T626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93490658G>A" "" "benign" "" "0000523567" "0" "10" "4" "94436475" "94436475" "subst" "0.00089909" "01943" "GRID2_000009" "g.94436475C>T" "" "" "" "GRID2(NM_001510.3):c.2106C>T (p.D702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93515324C>T" "" "benign" "" "0000523568" "0" "30" "4" "94690584" "94690584" "subst" "1.62942E-5" "01804" "GRID2_000010" "g.94690584C>T" "" "" "" "GRID2(NM_001510.2):c.2584C>T (p.(Arg862Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93769433C>T" "" "likely benign" "" "0000523569" "0" "50" "4" "94693546" "94693546" "subst" "0.00104765" "01943" "GRID2_000011" "g.94693546T>A" "" "" "" "GRID2(NM_001510.3):c.2921T>A (p.F974Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93772395T>A" "" "VUS" "" "0000609337" "0" "50" "4" "94032100" "94032100" "subst" "0" "01804" "GRID2_000012" "g.94032100C>T" "" "" "" "GRID2(NM_001510.2):c.731C>T (p.(Thr244Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93110949C>T" "" "VUS" "" "0000621434" "0" "50" "4" "94411877" "94411877" "subst" "8.15607E-5" "01943" "GRID2_000013" "g.94411877C>T" "" "" "" "GRID2(NM_001510.3):c.1946C>T (p.T649M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93490726C>T" "" "VUS" "" "0000655208" "0" "30" "4" "93225894" "93225894" "subst" "0.000508526" "01943" "GRID2_000014" "g.93225894C>T" "" "" "" "GRID2(NM_001510.3):c.87C>T (p.I29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92304743C>T" "" "likely benign" "" "0000689358" "0" "30" "4" "94031922" "94031922" "subst" "8.13206E-6" "01943" "GRID2_000015" "g.94031922T>C" "" "" "" "GRID2(NM_001510.3):c.553T>C (p.L185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689359" "0" "30" "4" "94436567" "94436567" "subst" "0" "01943" "GRID2_000016" "g.94436567T>C" "" "" "" "GRID2(NM_001510.3):c.2193+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801760" "0" "50" "4" "94006263" "94006263" "subst" "2.03308E-5" "01943" "GRID2_000017" "g.94006263G>T" "" "" "" "GRID2(NM_001510.3):c.362G>T (p.R121L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850695" "0" "30" "4" "94031931" "94031931" "subst" "4.06633E-6" "01943" "GRID2_000018" "g.94031931G>A" "" "" "" "GRID2(NM_001510.3):c.562G>A (p.V188I), GRID2(NM_001510.4):c.562G>A (p.(Val188Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859636" "0" "50" "4" "94128586" "94128586" "subst" "5.30223E-5" "01804" "GRID2_000019" "g.94128586G>A" "" "" "" "GRID2(NM_001286838.1):c.482G>A (p.(Cys161Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859637" "0" "50" "4" "94145790" "94145790" "subst" "3.26264E-5" "01943" "GRID2_000020" "g.94145790C>T" "" "" "" "GRID2(NM_001510.2):c.989C>T (p.(Thr330Met)), GRID2(NM_001510.3):c.989C>T (p.T330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924179" "0" "30" "4" "94411809" "94411809" "subst" "0.00223158" "02326" "GRID2_000008" "g.94411809G>A" "" "" "" "GRID2(NM_001510.3):c.1878G>A (p.T626=), GRID2(NM_001510.4):c.1878G>A (p.T626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976424" "0" "50" "4" "94031931" "94031931" "subst" "4.06633E-6" "01804" "GRID2_000018" "g.94031931G>A" "" "" "" "GRID2(NM_001510.3):c.562G>A (p.V188I), GRID2(NM_001510.4):c.562G>A (p.(Val188Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976425" "0" "30" "4" "94145934" "94145934" "subst" "0" "01804" "GRID2_000021" "g.94145934C>G" "" "" "" "GRID2(NM_001510.4):c.1125+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976426" "0" "50" "4" "94377007" "94377007" "subst" "0" "01804" "GRID2_000022" "g.94377007G>A" "" "" "" "GRID2(NM_001510.4):c.1740G>A (p.(Val580=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976427" "0" "50" "4" "94690489" "94690489" "subst" "4.47158E-5" "01804" "GRID2_000023" "g.94690489G>C" "" "" "" "GRID2(NM_001510.4):c.2489G>C (p.(Ser830Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994500" "0" "30" "4" "94145790" "94145790" "subst" "3.26264E-5" "01804" "GRID2_000020" "g.94145790C>T" "" "" "" "GRID2(NM_001510.2):c.989C>T (p.(Thr330Met)), GRID2(NM_001510.3):c.989C>T (p.T330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994501" "0" "50" "4" "94376872" "94376872" "subst" "4.07501E-6" "01804" "GRID2_000024" "g.94376872C>G" "" "" "" "GRID2(NM_001510.2):c.1605C>G (p.(Asp535Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994502" "0" "50" "4" "94436498" "94436498" "subst" "2.44033E-5" "01804" "GRID2_000025" "g.94436498G>A" "" "" "" "GRID2(NM_001510.2):c.2129G>A (p.(Arg710Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994503" "0" "50" "4" "94690482" "94690482" "subst" "0" "01804" "GRID2_000026" "g.94690482A>T" "" "" "" "GRID2(NM_001510.2):c.2482A>T (p.(Ile828Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049750" "3" "50" "4" "93978239" "94078203" "del" "0" "00006" "GRID2_000027" "g.93978239_94078203del" "" "{PMID:Charng 2016:27435318}" "" "hg19 chr4:g.93978239_94078203del" "" "Germline" "" "" "0" "" "" "g.93057088_93157052del" "" "VUS" "" "0001051780" "0" "30" "4" "94411781" "94411781" "subst" "0" "01804" "GRID2_000028" "g.94411781T>C" "" "" "" "GRID2(NM_001510.4):c.1859-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001061745" "3" "70" "4" "94032040" "94032040" "subst" "8.12876E-6" "00006" "GRID2_000029" "g.94032040G>A" "" "{PMID:Zech 2020:33098801}" "" "" "ACMG PM1, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.93110889G>A" "" "likely pathogenic (recessive)" "ACMG" ## 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 GRID2 ## Count = 32 "{{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}}" "0000084553" "00008931" "00" "1246" "-63086" "1246" "-63086" "c.1246-63086G>T" "r.(=)" "p.(=)" "i" "0000281141" "00008931" "10" "1251" "0" "1251" "0" "c.1251T>G" "r.(?)" "p.(Gly417=)" "" "0000281142" "00008931" "10" "735" "21" "735" "21" "c.735+21G>C" "r.(=)" "p.(=)" "" "0000288768" "00008931" "30" "1134" "0" "1134" "0" "c.1134T>C" "r.(?)" "p.(Val378=)" "" "0000288769" "00008931" "50" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Pro698Ser)" "" "0000523563" "00008931" "30" "432" "0" "432" "0" "c.432C>G" "r.(?)" "p.(Leu144=)" "" "0000523564" "00008931" "50" "529" "2" "529" "2" "c.529+2T>C" "r.spl?" "p.?" "" "0000523565" "00008931" "10" "1878" "0" "1878" "0" "c.1878G>A" "r.(?)" "p.(Thr626=)" "" "0000523567" "00008931" "10" "2106" "0" "2106" "0" "c.2106C>T" "r.(?)" "p.(Asp702=)" "" "0000523568" "00008931" "30" "2584" "0" "2584" "0" "c.2584C>T" "r.(?)" "p.(Arg862Trp)" "" "0000523569" "00008931" "50" "2921" "0" "2921" "0" "c.2921T>A" "r.(?)" "p.(Phe974Tyr)" "" "0000609337" "00008931" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Thr244Ile)" "" "0000621434" "00008931" "50" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Thr649Met)" "" "0000655208" "00008931" "30" "87" "0" "87" "0" "c.87C>T" "r.(?)" "p.(Ile29=)" "" "0000689358" "00008931" "30" "553" "0" "553" "0" "c.553T>C" "r.(?)" "p.(Leu185=)" "" "0000689359" "00008931" "30" "2193" "5" "2193" "5" "c.2193+5T>C" "r.spl?" "p.?" "" "0000801760" "00008931" "50" "362" "0" "362" "0" "c.362G>T" "r.(?)" "p.(Arg121Leu)" "" "0000850695" "00008931" "30" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Val188Ile)" "" "0000859636" "00008931" "50" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Cys256Tyr)" "" "0000859637" "00008931" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Met)" "" "0000924179" "00008931" "30" "1878" "0" "1878" "0" "c.1878G>A" "r.(?)" "p.(Thr626=)" "" "0000976424" "00008931" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Val188Ile)" "" "0000976425" "00008931" "30" "1125" "8" "1125" "8" "c.1125+8C>G" "r.(=)" "p.(=)" "" "0000976426" "00008931" "50" "1740" "0" "1740" "0" "c.1740G>A" "r.(?)" "p.(=)" "" "0000976427" "00008931" "50" "2489" "0" "2489" "0" "c.2489G>C" "r.(?)" "p.(Ser830Thr)" "" "0000994500" "00008931" "30" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Met)" "" "0000994501" "00008931" "50" "1605" "0" "1605" "0" "c.1605C>G" "r.(?)" "p.(Asp535Glu)" "" "0000994502" "00008931" "50" "2129" "0" "2129" "0" "c.2129G>A" "r.(?)" "p.(Arg710Gln)" "" "0000994503" "00008931" "50" "2482" "0" "2482" "0" "c.2482A>T" "r.(?)" "p.(Ile828Leu)" "" "0001049750" "00008931" "50" "245" "-27907" "735" "46099" "c.245-27907_735+46099del" "r.(?)" "p.?" "" "0001051780" "00008931" "30" "1859" "-9" "1859" "-9" "c.1859-9T>C" "r.(=)" "p.(=)" "" "0001061745" "00008931" "70" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000054606" "0000084553" "0000469452" "0001049750" "0000473001" "0001061745"