### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRIN2D) # 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}}" "GRIN2D" "glutamate receptor, ionotropic, N-methyl D-aspartate 2D" "19" "q13.33" "unknown" "NC_000019.9" "UD_132465524170" "" "http://www.LOVD.nl/GRIN2D" "" "1" "4588" "2906" "602717" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GRIN2D_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-07-08 18:16:35" "00000" "2025-11-01 13:22:20" ## 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}}" "00008944" "GRIN2D" "glutamate receptor, ionotropic, N-methyl D-aspartate 2D" "001" "NM_000836.2" "" "NP_000827.2" "" "" "" "-88" "5005" "4011" "48898132" "48948188" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "06414" "EIEE46" "Epileptic encephalopathy, early infantile, 46" "AD" "617162" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GRIN2D" "06414" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00074599" "" "" "" "2" "" "00679" "" "" "F" "no" "" "" "0" "" "Memantine" "" "" "00452321" "" "" "" "1" "" "01164" "" "" "F" "no" "? (unknown)" "" "0" "" "" "" "299118" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00074599" "00344" "00452321" "06414" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00344, 06414 ## Count = 2 "{{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}}" "0000054365" "00344" "00074599" "00679" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000340925" "06414" "00452321" "01164" "Isolated (sporadic)" "12y" "Abnormality of movement, Scoliosis, Strabismus, Broad-based gait, Obesity, Paroxysmal bursts of laughter, Intellectual disability, borderline, Anxiety, Cleft palate, Thick eyebrow, Thin upper lip vermilion, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000074762" "00074599" "1" "00679" "00679" "2016-07-08 17:28:43" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000453923" "00452321" "1" "01164" "01164" "2024-07-16 12:44:17" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000074762" "GRIN2D" "0000453923" "GRIN2D" ## 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 = 46 "{{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}}" "0000119835" "0" "90" "19" "48922979" "48922979" "subst" "0" "00679" "GRIN2D_000001" "g.48922979G>A" "" "Li et al. AJHG, accepted" "" "" "" "De novo" "" "" "0" "" "" "g.48419722G>A" "" "pathogenic" "" "0000285023" "0" "30" "19" "48925222" "48925222" "subst" "0.000398165" "02326" "GRIN2D_000002" "g.48925222G>A" "" "" "" "GRIN2D(NM_000836.2):c.2252+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48421965G>A" "" "likely benign" "" "0000326680" "0" "50" "19" "48947132" "48947132" "subst" "0.0147611" "01804" "GRIN2D_000003" "g.48947132G>A" "" "" "" "GRIN2D(NM_000836.2):c.3949G>A (p.(Gly1317Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48443875G>A" "" "VUS" "" "0000567919" "0" "50" "19" "48946253" "48946253" "subst" "0" "02326" "GRIN2D_000004" "g.48946253T>G" "" "" "" "GRIN2D(NM_000836.2):c.3070T>G (p.F1024V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48442996T>G" "" "VUS" "" "0000567920" "0" "30" "19" "48946811" "48946811" "subst" "0" "02325" "GRIN2D_000005" "g.48946811C>T" "" "" "" "GRIN2D(NM_000836.2):c.3628C>T (p.P1210S), GRIN2D(NM_000836.4):c.3628C>T (p.P1210S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48443554C>T" "" "likely benign" "" "0000567921" "0" "30" "19" "48946811" "48946811" "subst" "0" "02326" "GRIN2D_000005" "g.48946811C>T" "" "" "" "GRIN2D(NM_000836.2):c.3628C>T (p.P1210S), GRIN2D(NM_000836.4):c.3628C>T (p.P1210S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48443554C>T" "" "likely benign" "" "0000617733" "0" "30" "19" "48902063" "48902063" "subst" "0.000319392" "02326" "GRIN2D_000006" "g.48902063G>A" "" "" "" "GRIN2D(NM_000836.2):c.414G>A (p.S138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48398806G>A" "" "likely benign" "" "0000658625" "0" "30" "19" "48946337" "48946337" "subst" "0.000526094" "02326" "GRIN2D_000008" "g.48946337G>A" "" "" "" "GRIN2D(NM_000836.2):c.3154G>A (p.D1052N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48443080G>A" "" "likely benign" "" "0000681471" "0" "50" "19" "48901861" "48901861" "subst" "0" "01804" "GRIN2D_000009" "g.48901861C>T" "" "" "" "GRIN2D(NM_000836.2):c.212C>T (p.(Pro71Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681472" "0" "30" "19" "48918116" "48918116" "subst" "1.22138E-5" "02325" "GRIN2D_000010" "g.48918116C>T" "" "" "" "GRIN2D(NM_000836.4):c.1413-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681473" "0" "30" "19" "48945044" "48945044" "subst" "0.00175616" "02326" "GRIN2D_000011" "g.48945044C>T" "" "" "" "GRIN2D(NM_000836.2):c.2271C>T (p.I757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681474" "0" "50" "19" "48947176" "48947176" "subst" "0" "01943" "GRIN2D_000012" "g.48947176C>A" "" "" "" "GRIN2D(NM_000836.2):c.3993C>A (p.S1331R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727470" "0" "30" "19" "48946811" "48946811" "subst" "0" "01943" "GRIN2D_000005" "g.48946811C>T" "" "" "" "GRIN2D(NM_000836.2):c.3628C>T (p.P1210S), GRIN2D(NM_000836.4):c.3628C>T (p.P1210S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808972" "0" "30" "19" "48901931" "48901931" "subst" "0" "02325" "GRIN2D_000013" "g.48901931G>A" "" "" "" "GRIN2D(NM_000836.4):c.282G>A (p.S94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808973" "0" "30" "19" "48945044" "48945044" "subst" "0.00175616" "01943" "GRIN2D_000011" "g.48945044C>T" "" "" "" "GRIN2D(NM_000836.2):c.2271C>T (p.I757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855652" "0" "50" "19" "48922599" "48922599" "subst" "3.35331E-5" "01943" "GRIN2D_000015" "g.48922599G>C" "" "" "" "GRIN2D(NM_000836.2):c.1844G>C (p.S615T), GRIN2D(NM_000836.4):c.1844G>C (p.(Ser615Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855653" "0" "30" "19" "48946903" "48946903" "subst" "0" "01943" "GRIN2D_000016" "g.48946903C>T" "" "" "" "GRIN2D(NM_000836.2):c.3720C>T (p.H1240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866212" "0" "50" "19" "48917774" "48917774" "subst" "0" "02327" "GRIN2D_000014" "g.48917774G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931081" "0" "50" "19" "48901939" "48901939" "subst" "0" "02325" "GRIN2D_000017" "g.48901939G>A" "" "" "" "GRIN2D(NM_000836.4):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969829" "0" "30" "19" "48918142" "48918142" "subst" "1.22001E-5" "02326" "GRIN2D_000018" "g.48918142C>T" "" "" "" "GRIN2D(NM_000836.2):c.1434C>T (p.R478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972066" "0" "50" "19" "48946388" "48946388" "subst" "0" "03779" "GRIN2D_000019" "g.48946388C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000983571" "0" "50" "19" "48908025" "48908025" "subst" "0" "01804" "GRIN2D_000020" "g.48908025C>T" "" "" "" "GRIN2D(NM_000836.4):c.500C>T (p.(Ser167Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983572" "0" "30" "19" "48917913" "48917913" "subst" "0" "01804" "GRIN2D_000021" "g.48917913A>C" "" "" "" "GRIN2D(NM_000836.4):c.1412+72A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983573" "0" "50" "19" "48918222" "48918225" "dup" "0" "01804" "GRIN2D_000022" "g.48918222_48918225dup" "" "" "" "GRIN2D(NM_000836.4):c.1514_1517dup (p.(Val508ProfsTer137))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983574" "0" "50" "19" "48946319" "48946319" "subst" "0" "01804" "GRIN2D_000023" "g.48946319T>C" "" "" "" "GRIN2D(NM_000836.4):c.3136T>C (p.(Cys1046Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000988701" "0" "70" "19" "48922967" "48922967" "subst" "0" "01164" "GRIN2D_000024" "g.48922967G>C" "" "" "" "" "ACMG: PS2_MOD, PM1, PM2_SUP, PP3" "De novo" "-" "" "0" "" "" "g.48419710G>C" "" "likely pathogenic (dominant)" "ACMG" "0001004953" "0" "50" "19" "48901858" "48901858" "subst" "0" "01804" "GRIN2D_000025" "g.48901858G>C" "" "" "" "GRIN2D(NM_000836.2):c.209G>C (p.(Gly70Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004954" "0" "50" "19" "48945165" "48945165" "subst" "8.19383E-6" "01804" "GRIN2D_000026" "g.48945165C>G" "" "" "" "GRIN2D(NM_000836.2):c.2392C>G (p.(Arg798Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004955" "0" "30" "19" "48946259" "48946259" "subst" "0" "01804" "GRIN2D_000027" "g.48946259G>A" "" "" "" "GRIN2D(NM_000836.2):c.3076G>A (p.(Gly1026Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004956" "0" "30" "19" "48946343" "48946343" "subst" "0" "01804" "GRIN2D_000028" "g.48946343A>G" "" "" "" "GRIN2D(NM_000836.2):c.3160A>G (p.(Ser1054Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004957" "0" "30" "19" "48947106" "48947106" "subst" "0" "01804" "GRIN2D_000029" "g.48947106C>T" "" "" "" "GRIN2D(NM_000836.2):c.3923C>T (p.(Pro1308Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043080" "0" "50" "19" "48917780" "48917780" "subst" "0" "01804" "GRIN2D_000030" "g.48917780A>G" "" "" "" "GRIN2D(NM_000836.4):c.1351A>G (p.(Ile451Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043081" "0" "30" "19" "48922599" "48922599" "subst" "3.35331E-5" "01804" "GRIN2D_000015" "g.48922599G>C" "" "" "" "GRIN2D(NM_000836.2):c.1844G>C (p.S615T), GRIN2D(NM_000836.4):c.1844G>C (p.(Ser615Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043082" "0" "50" "19" "48945583" "48945583" "subst" "1.22016E-5" "02325" "GRIN2D_000031" "g.48945583C>G" "" "" "" "GRIN2D(NM_000836.4):c.2617C>G (p.L873V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043083" "0" "50" "19" "48946418" "48946418" "subst" "0" "01804" "GRIN2D_000032" "g.48946418G>T" "" "" "" "GRIN2D(NM_000836.4):c.3235G>T (p.(Ala1079Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043084" "0" "30" "19" "48946443" "48946443" "subst" "0" "02326" "GRIN2D_000033" "g.48946443G>C" "" "" "" "GRIN2D(NM_000836.2):c.3260G>C (p.G1087A), GRIN2D(NM_000836.4):c.3260G>C (p.(Gly1087Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043085" "0" "50" "19" "48946613" "48946613" "subst" "0" "01804" "GRIN2D_000034" "g.48946613C>T" "" "" "" "GRIN2D(NM_000836.4):c.3430C>T (p.(Arg1144Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046745" "0" "50" "19" "48946293" "48946293" "subst" "0" "02325" "GRIN2D_000035" "g.48946293C>T" "" "" "" "GRIN2D(NM_000836.4):c.3110C>T (p.A1037V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056739" "0" "50" "19" "48908235" "48908235" "subst" "0" "01804" "GRIN2D_000036" "g.48908235G>A" "" "" "" "GRIN2D(NM_000836.4):c.710G>A (p.(Arg237His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056740" "0" "50" "19" "48917799" "48917799" "subst" "0" "01804" "GRIN2D_000037" "g.48917799G>A" "" "" "" "GRIN2D(NM_000836.4):c.1370G>A (p.(Arg457Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056741" "0" "50" "19" "48918129" "48918130" "delins" "0" "01804" "GRIN2D_000038" "g.48918129_48918130delinsAA" "" "" "" "GRIN2D(NM_000836.4):c.1421_1422delinsAA (p.(Pro474Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056742" "0" "50" "19" "48918130" "48918130" "subst" "4.06805E-6" "01804" "GRIN2D_000039" "g.48918130G>A" "" "" "" "GRIN2D(NM_000836.4):c.1422G>A (p.(Pro474=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056743" "0" "50" "19" "48946050" "48946050" "subst" "0" "01804" "GRIN2D_000040" "g.48946050G>T" "" "" "" "GRIN2D(NM_000836.4):c.2867G>T (p.(Gly956Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056744" "0" "50" "19" "48946107" "48946107" "subst" "0" "01804" "GRIN2D_000041" "g.48946107T>G" "" "" "" "GRIN2D(NM_000836.4):c.2924T>G (p.(Leu975Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056745" "0" "30" "19" "48946443" "48946443" "subst" "0" "01804" "GRIN2D_000033" "g.48946443G>C" "" "" "" "GRIN2D(NM_000836.2):c.3260G>C (p.G1087A), GRIN2D(NM_000836.4):c.3260G>C (p.(Gly1087Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056746" "0" "50" "19" "48946717" "48946717" "subst" "0" "01804" "GRIN2D_000042" "g.48946717G>T" "" "" "" "GRIN2D(NM_000836.4):c.3534G>T (p.(Trp1178Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 GRIN2D ## Count = 46 "{{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}}" "0000119835" "00008944" "90" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Ile)" "9" "0000285023" "00008944" "30" "2252" "20" "2252" "20" "c.2252+20G>A" "r.(=)" "p.(=)" "" "0000326680" "00008944" "50" "3949" "0" "3949" "0" "c.3949G>A" "r.(?)" "p.(Gly1317Ser)" "" "0000567919" "00008944" "50" "3070" "0" "3070" "0" "c.3070T>G" "r.(?)" "p.(Phe1024Val)" "" "0000567920" "00008944" "30" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Pro1210Ser)" "" "0000567921" "00008944" "30" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Pro1210Ser)" "" "0000617733" "00008944" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Ser138=)" "" "0000658625" "00008944" "30" "3154" "0" "3154" "0" "c.3154G>A" "r.(?)" "p.(Asp1052Asn)" "" "0000681471" "00008944" "50" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Pro71Leu)" "" "0000681472" "00008944" "30" "1413" "-5" "1413" "-5" "c.1413-5C>T" "r.spl?" "p.?" "" "0000681473" "00008944" "30" "2271" "0" "2271" "0" "c.2271C>T" "r.(?)" "p.(Ile757=)" "" "0000681474" "00008944" "50" "3993" "0" "3993" "0" "c.3993C>A" "r.(?)" "p.(Ser1331Arg)" "" "0000727470" "00008944" "30" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Pro1210Ser)" "" "0000808972" "00008944" "30" "282" "0" "282" "0" "c.282G>A" "r.(?)" "p.(Ser94=)" "" "0000808973" "00008944" "30" "2271" "0" "2271" "0" "c.2271C>T" "r.(?)" "p.(Ile757=)" "" "0000855652" "00008944" "50" "1844" "0" "1844" "0" "c.1844G>C" "r.(?)" "p.(Ser615Thr)" "" "0000855653" "00008944" "30" "3720" "0" "3720" "0" "c.3720C>T" "r.(?)" "p.(His1240=)" "" "0000866212" "00008944" "50" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Asp449Asn)" "" "0000931081" "00008944" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97His)" "" "0000969829" "00008944" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(=)" "" "0000972066" "00008944" "50" "3205" "0" "3205" "0" "c.3205C>T" "r.(?)" "p.(Gln1069Ter)" "" "0000983571" "00008944" "50" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Ser167Phe)" "" "0000983572" "00008944" "30" "1412" "72" "1412" "72" "c.1412+72A>C" "r.(=)" "p.(=)" "" "0000983573" "00008944" "50" "1514" "0" "1517" "0" "c.1514_1517dup" "r.(?)" "p.(Val508Profs*137)" "" "0000983574" "00008944" "50" "3136" "0" "3136" "0" "c.3136T>C" "r.(?)" "p.(Cys1046Arg)" "" "0000988701" "00008944" "70" "1987" "0" "1987" "0" "c.1987G>C" "r.(?)" "p.(Ala663Pro)" "10" "0001004953" "00008944" "50" "209" "0" "209" "0" "c.209G>C" "r.(?)" "p.(Gly70Ala)" "" "0001004954" "00008944" "50" "2392" "0" "2392" "0" "c.2392C>G" "r.(?)" "p.(Arg798Gly)" "" "0001004955" "00008944" "30" "3076" "0" "3076" "0" "c.3076G>A" "r.(?)" "p.(Gly1026Ser)" "" "0001004956" "00008944" "30" "3160" "0" "3160" "0" "c.3160A>G" "r.(?)" "p.(Ser1054Gly)" "" "0001004957" "00008944" "30" "3923" "0" "3923" "0" "c.3923C>T" "r.(?)" "p.(Pro1308Leu)" "" "0001043080" "00008944" "50" "1351" "0" "1351" "0" "c.1351A>G" "r.(?)" "p.(Ile451Val)" "" "0001043081" "00008944" "30" "1844" "0" "1844" "0" "c.1844G>C" "r.(?)" "p.(Ser615Thr)" "" "0001043082" "00008944" "50" "2617" "0" "2617" "0" "c.2617C>G" "r.(?)" "p.(Leu873Val)" "" "0001043083" "00008944" "50" "3235" "0" "3235" "0" "c.3235G>T" "r.(?)" "p.(Ala1079Ser)" "" "0001043084" "00008944" "30" "3260" "0" "3260" "0" "c.3260G>C" "r.(?)" "p.(Gly1087Ala)" "" "0001043085" "00008944" "50" "3430" "0" "3430" "0" "c.3430C>T" "r.(?)" "p.(Arg1144Cys)" "" "0001046745" "00008944" "50" "3110" "0" "3110" "0" "c.3110C>T" "r.(?)" "p.(Ala1037Val)" "" "0001056739" "00008944" "50" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237His)" "" "0001056740" "00008944" "50" "1370" "0" "1370" "0" "c.1370G>A" "r.(?)" "p.(Arg457Gln)" "" "0001056741" "00008944" "50" "1421" "0" "1422" "0" "c.1421_1422delinsAA" "r.(?)" "p.(Pro474Gln)" "" "0001056742" "00008944" "50" "1422" "0" "1422" "0" "c.1422G>A" "r.(?)" "p.(=)" "" "0001056743" "00008944" "50" "2867" "0" "2867" "0" "c.2867G>T" "r.(?)" "p.(Gly956Val)" "" "0001056744" "00008944" "50" "2924" "0" "2924" "0" "c.2924T>G" "r.(?)" "p.(Leu975Arg)" "" "0001056745" "00008944" "30" "3260" "0" "3260" "0" "c.3260G>C" "r.(?)" "p.(Gly1087Ala)" "" "0001056746" "00008944" "50" "3534" "0" "3534" "0" "c.3534G>T" "r.(?)" "p.(Trp1178Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000074762" "0000119835" "0000453923" "0000988701"