### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRIN2A) # 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}}" "GRIN2A" "glutamate receptor, ionotropic, N-methyl D-aspartate 2A" "16" "p13.2" "unknown" "NC_000016.9" "UD_132118723770" "" "https://www.LOVD.nl/GRIN2A" "" "1" "4585" "2903" "138253" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/GRIN2A_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2025-10-30 13:32:00" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001108" "GRIN2A" "transcript variant 2" "001" "NM_000833.3" "" "NP_000824.1" "" "" "" "-310" "14136" "4395" "9847265" "10276611" "00000" "2012-09-13 13:12:59" "" "" "00026022" "GRIN2A" "transcript variant 1 (expired, new version available) (expired, new version available)" "002" "NM_001134407.2" "" "NP_001127879.1" "" "" "" "-548" "14136" "4395" "10276263" "9847265" "00006" "2025-10-30 13:30:47" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "01889" "FESD" "epilepsy, focal, with speech disorder with/without mental retardation (FESD)" "AD" "245570" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04298" "EIG" "epilepsy, idiopathic, generalized (EIG)" "" "" "" "" "" "00006" "2015-07-15 15:03:52" "" "" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "GRIN2A" "00139" "GRIN2A" "01889" ## Individuals ## Do not remove or alter this header ## ## Count = 258 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00016325" "" "" "" "1" "" "00681" "" "Diagnosis: Benign epilepsy of childhood with centrotempral spikes (BECTS)" "M" "no" "Italy" "" "0" "" "" "" "" "00016327" "" "" "" "1" "" "00681" "" "" "M" "yes" "" "" "0" "" "" "" "" "00017834" "" "" "" "3" "" "00006" "{PMID:Endele 2010:20890276}" "3-generation family, 3 affecteds (son, mother, grandmother)" "M" "no" "Germany" "" "0" "" "" "" "" "00017835" "" "" "" "1" "" "00006" "{PMID:Endele 2010:20890276}" "" "F" "no" "France" "" "0" "" "" "" "" "00074422" "" "" "" "1" "" "01470" "" "" "M" "no" "Spain" "" "0" "" "" "" "" "00116856" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_200:0/1:CONTROL" "00116861" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_217:0/1:CONTROL" "00116871" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_238:0/1:CONTROL" "00116899" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_301:0/1:CONTROL" "00116937" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_393:0/1:CONTROL" "00116954" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_436:0/1:CONTROL" "00116963" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_461:0/1:CONTROL" "00116968" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_470:0/1:CONTROL" "00117019" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_569:0/1:TYPICAL_RE" "00117035" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_596:0/1:TYPICAL_RE" "00117036" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_597:0/1:TYPICAL_RE" "00117037" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_598:0/1:ATYPICAL_RE" "00117044" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_610:0/1:TYPICAL_RE" "00117045" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_611:0/1:ATYPICAL_RE" "00117054" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_627:0/1:TYPICAL_RE" "00117063" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_642:0/1:TYPICAL_RE" "00117077" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_676:0/1:TYPICAL_RE" "00117078" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_678:0/1:TYPICAL_RE" "00117085" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_702:0/1:ATYPICAL_RE" "00117097" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_724:0/1:TYPICAL_RE" "00117116" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_758:0/1:ATYPICAL_RE" "00183059" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio52" "00183061" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio58" "00207925" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00209022" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "M" "" "Canada" "" "0" "" "" "" "28771251-Pat37" "00276029" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00291608" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291609" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291610" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296796" "" "" "" "7" "" "00006" "{PMID:Lesca 2013:23933820}" "3-generation family, 7 affected" "" "" "France" "" "0" "" "" "" "Fam1" "00296797" "" "" "" "3" "" "00006" "{PMID:Lesca 2013:23933820}" "2-generation family, 3 affected" "" "" "" "" "0" "" "" "" "Fam2" "00296798" "" "" "" "3" "" "00006" "{PMID:Lesca 2013:23933820}" "2-generation family, 3 affected" "" "" "" "" "0" "" "" "" "Fam3" "00296799" "" "" "" "3" "" "00006" "{PMID:Lesca 2013:23933820}" "2-generation family, 3 affected" "" "" "" "" "0" "" "" "" "Fam4" "00296800" "" "" "" "2" "" "00006" "{PMID:Lesca 2013:23933820}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "Fam5" "00296801" "" "" "" "2" "" "00006" "{PMID:Lesca 2013:23933820}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "Fam6" "00296802" "" "" "" "3" "" "00006" "{PMID:Lesca 2013:23933820}" "2-generation family, 3 affected" "" "" "" "" "0" "" "" "" "Fam7" "00296803" "" "" "" "2" "" "00006" "{PMID:Lesca 2013:23933820}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "Fam8" "00296804" "" "" "" "2" "" "00006" "{PMID:Lesca 2013:23933820}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "Fam9" "00296805" "" "" "" "10" "" "00006" "{PMID:Roll 2006:16497722}, {PMID:Lesca 2013:23933820}" "3-generation family, 11 affected (7F, 4M)" "F;M" "" "France" "" "0" "" "" "" "Fam10" "00296806" "" "" "" "1" "" "00006" "{PMID:Lesca 2013:23933820}" "" "" "" "" "" "0" "" "" "" "Pat1" "00296807" "" "" "" "1" "" "00006" "{PMID:Lesca 2013:23933820}" "" "" "" "" "" "0" "" "" "" "Pat2" "00296808" "" "" "" "1" "" "00006" "{PMID:Lesca 2013:23933820}" "" "" "" "" "" "0" "" "" "" "Pat3" "00296809" "" "" "" "1" "" "00006" "{PMID:Lesca 2013:23933820}" "" "" "" "" "" "0" "" "" "" "Pat4" "00296810" "" "" "" "1" "" "00006" "{PMID:Lesca 2013:23933820}" "" "" "" "" "" "0" "" "" "" "Pat5" "00296811" "" "" "" "1" "" "00006" "{PMID:Lesca 2013:23933820}" "" "" "" "" "" "0" "" "" "" "Pat6" "00296812" "" "" "" "1" "" "00006" "{PMID:Lesca 2013:23933820}" "" "" "" "" "" "0" "" "" "" "Pat7" "00296813" "" "" "" "1" "" "00006" "{PMID:Lesca 2013:23933820}" "" "" "" "" "" "0" "" "" "" "Pat8" "00301260" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "Italy" "" "" "" "" "" "" "00301265" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "" "" "" "" "" "" "" "00301266" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "" "" "" "" "" "" "" "00305978" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "3-generation family, 1 affected, father epilepsy, died from brain hemorrhage" "M" "" "Denmark" "" "0" "" "" "" "Pat9" "00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00307796" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411663" "00310737" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-72" "00310738" "" "" "" "1" "" "00006" "{PMID:Lemke 2013:23933819}" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-73" "00310739" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-74" "00310740" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-75" "00310741" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-76" "00310742" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-77" "00310743" "" "" "" "1" "" "00006" "{PMID:Conroy 2014:24828792}" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-79" "00310744" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-80" "00310745" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23933818}" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-81" "00310746" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-82" "00310747" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-84" "00310748" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-86" "00310749" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-87" "00310750" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-88" "00310751" "" "" "" "1" "" "00006" "{PMID:Farwell 2015:25356970}" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-89" "00310752" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-90" "00310753" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-91" "00310754" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-93" "00310755" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-94" "00310756" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-95" "00310757" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-96" "00310758" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-97" "00310759" "" "" "" "1" "" "00006" "{PMID:Retterer 2015:25356966}" "" "" "" "" "" "0" "" "" "" "" "00310760" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-99" "00310761" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-100" "00310762" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-102" "00310763" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-103" "00310764" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-105" "00310765" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-106" "00310766" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-107" "00310767" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-108" 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"00443472" "" "" "" "2" "" "00006" "{PMID:Carter 2019:30790272}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "yes" "Somalia" "" "0" "" "" "" "Fam2Pat2/3" "00444352" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "266427" "00467805" "" "" "" "1" "" "00006" "{PMID:Wheeler 2025:41091956}" "2-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 260 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00016325" "00198" "00016327" "00344" "00017834" "00139" "00017835" "00139" "00074422" "00139" "00074422" "01889" "00116856" "00000" "00116861" "00000" "00116871" "00000" "00116899" "00000" "00116937" "00000" "00116954" "00000" "00116963" "00000" "00116968" "00000" "00117019" "05315" "00117035" "05315" "00117036" "05315" "00117037" "05315" "00117044" "05315" "00117045" "05315" "00117054" "05315" "00117063" "05315" "00117077" "05315" "00117078" "05315" "00117085" "05315" "00117097" "05315" "00117116" "05315" "00183059" "00139" "00183061" "00139" "00209022" "04270" "00276029" "00198" "00291608" "00198" "00291609" "00198" "00291610" "00198" "00296796" "00344" "00296797" "00344" "00296798" "00344" "00296799" "00344" "00296800" "00344" "00296801" "00344" "00296802" "00344" "00296803" "00344" "00296804" "00344" "00296805" "00344" "00296806" "00344" "00296807" "00344" "00296808" "00344" "00296809" "00344" "00296810" "00344" "00296811" "00344" "00296812" "00344" "00296813" "00344" "00301260" "00841" "00301265" "00841" "00301266" "00841" "00305978" "04270" "00307142" "01544" "00307145" "01544" "00307796" "00139" "00310737" "05611" "00310738" "05611" "00310739" "05611" "00310740" "05611" "00310741" "05611" "00310742" "05611" "00310743" "05611" "00310744" "05611" "00310745" "05611" "00310746" "05611" "00310747" "05611" "00310748" "05611" "00310749" "05611" "00310750" "05611" "00310751" "05611" "00310752" "05611" "00310753" "05611" "00310754" "05611" "00310755" "05611" "00310756" "05611" "00310757" "05611" "00310758" "05611" "00310759" "05611" "00310760" "05611" "00310761" "05611" "00310762" "05611" "00310763" "05611" "00310764" "05611" "00310765" "05611" "00310766" "05611" "00310767" "05611" "00310768" "05611" "00310769" "05611" "00310770" "05611" "00310771" "05611" "00310772" "05611" "00310773" "05611" "00310774" "05611" "00310775" "05611" "00310776" "05611" "00310777" "05611" "00310778" "05611" "00310779" "05611" "00310780" "05611" "00310781" "05611" "00310782" "05611" "00310783" "05611" "00310784" "05611" "00310785" "05611" "00310786" "05611" "00310787" "05611" "00310788" "05611" "00310789" "05611" "00310790" "05611" "00310791" "05611" "00310792" "05611" "00310793" "05611" "00310794" "05611" "00310795" "05611" "00310796" "05611" "00310797" "05611" "00310798" "05611" "00310799" "05611" "00310800" "05611" "00310801" "05611" "00310802" "05611" "00310803" "05611" "00310804" "05611" "00310805" "05611" "00310806" "05611" "00310807" "05611" "00310808" "05611" "00310809" "05611" "00310810" "05611" "00310811" "05611" "00310812" "05611" "00310813" "05611" "00310814" "05611" "00310815" "05611" "00310816" "05611" "00310817" "05611" "00310818" "05611" "00310819" "05611" "00310820" "05611" "00310821" "05611" "00310822" "05611" "00310823" "05611" "00310824" "05611" "00310825" "05611" "00310826" "05611" "00310827" "05611" "00310828" "05611" "00310829" "05611" "00310830" "05611" "00310831" "05611" "00310832" "05611" "00310833" "05611" "00310834" "05611" "00310835" "05611" "00310836" "05611" "00310837" "05611" "00310838" "05611" "00310839" "05611" "00310840" "05611" "00310841" "05611" "00310842" "05611" "00310843" "05611" "00310844" "05611" "00310845" "05611" "00310846" "05611" "00310847" "05611" "00310848" "05611" "00310849" "05611" "00310887" "05611" "00310888" "05611" "00310889" "05611" "00310890" "05611" "00310891" "05611" "00310892" "05611" "00310893" "05611" "00310894" "05611" "00310895" "05611" "00310896" "05611" "00310897" "05611" "00310898" "05611" "00310899" "05611" "00310900" "05611" "00310901" "05611" "00310902" "05611" "00310903" "05611" "00310904" "05611" "00310905" "05611" "00310906" "05611" "00310907" "05611" "00310908" "05611" "00310909" "05611" "00310910" "05611" "00310911" "05611" "00310912" "05611" "00310913" "05611" "00310914" "05611" "00310915" "05611" "00310916" "05611" "00310917" "05611" "00310918" "05611" "00310919" "05611" "00310920" "05611" "00310921" "05611" "00310922" "05611" "00310923" "05611" "00310924" "05611" "00310925" "05611" "00310926" "05611" "00310927" "05611" "00310928" "05611" "00310929" "05611" "00310930" "05611" "00310931" "05611" "00310932" "05611" "00310933" "05611" "00310934" "05611" "00310935" "05611" "00310936" "05611" "00310937" "05611" "00310938" "05611" "00310939" "05611" "00310940" "05611" "00310941" "05611" "00310942" "05611" "00310943" "05611" "00310944" "05611" "00310945" "05611" "00310946" "05611" "00310947" "05611" "00310948" "05611" "00310949" "05611" "00310950" "05611" "00310951" "05611" "00310952" "05611" "00310953" "05611" "00310954" "05611" "00310955" "05611" "00310966" "05611" "00311003" "05611" "00314885" "00198" "00374311" "00198" "00374339" "00198" "00374746" "00198" "00374747" "00198" "00374748" "00198" "00374749" "00198" "00374750" "00198" "00436389" "04298" "00436389" "05611" "00436390" "04270" "00436390" "05611" "00443472" "05611" "00444352" "01889" "00467805" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00344, 00841, 01157, 01544, 01889, 04270, 04298, 05315, 05611 ## Count = 247 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014938" "00198" "00016325" "00681" "Unknown" "" "benign childhood epilepsy with centro-temporal spikes (BCECTS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000014940" "00344" "00016327" "00681" "Unknown" "" "epileptic encephalopathy with severe cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "" "0000016188" "00139" "00017834" "00006" "Familial, autosomal dominant" "04y" "see paper; learning difficulties, mild/moderate mental retardation, EEG anomalies, childhood seizures, etc." "" "" "" "" "" "" "" "" "" "" "" "" "0000016189" "00139" "00017835" "00006" "Isolated (sporadic)" "03y" "see paper; severe mental retardation, 3m-first seizure; epileptic spasms, myoclonies/frequent massive myoclonies until present; EEG anomalies slowing, bilateral independent posterior spikes, behavioral anomalies; muscle hypotonia; no MRI anomalies; no facial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "0000054268" "01889" "00074422" "01470" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092283" "05315" "00117037" "02192" "Unknown" "" "atypical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092284" "05315" "00117045" "02192" "Unknown" "" "atypical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092285" "05315" "00117085" "02192" "Unknown" "" "atypical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092289" "05315" "00117116" "02192" "Unknown" "" "atypical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092291" "05315" "00117019" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092304" "05315" "00117035" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092305" "05315" "00117036" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092310" "05315" "00117044" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092318" "05315" "00117054" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092326" "05315" "00117063" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092339" "05315" "00117077" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092340" "05315" "00117078" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092356" "05315" "00117097" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000143812" "00139" "00183059" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000143814" "00139" "00183061" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000155698" "00198" "00207925" "01164" "Unknown" "" "HP:0001263 (Global developmental delay); HP:0007359 (Focal seizures)" "" "" "" "" "" "" "" "" "" "" "" "" "0000157628" "04270" "00209022" "00006" "Familial, autosomal dominant" "" "epilepsy" "" "" "" "" "" "" "" "" "" "FESD" "epilepsy" "" "0000210585" "00198" "00276029" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Epileptic encephalopathy (HP:0200134); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "0000224195" "00344" "00296796" "00006" "Familial, autosomal dominant" "" "ee paper; ..., continuous spike and wave during slow-wave sleep syndrome, Landau-Kleffner syndrome, atypical Rolandic epilepsy, dysphasia" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224196" "00344" "00296797" "00006" "Familial, autosomal dominant" "" "see paper; ..., continuous spike and wave during slow-wave sleep syndrome, verbal dyspraxia" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224197" "00344" "00296798" "00006" "Familial, autosomal dominant" "" "see paper; ..., Landau-Kleffner syndrome, verbal dyspraxia" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224198" "00344" "00296799" "00006" "Familial, autosomal dominant" "" "see paper; ..., continuous spike and wave during slow-wave sleep syndrome, benign childhood epilepsy" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224199" "00344" "00296800" "00006" "Familial, autosomal dominant" "" "see paper; ..., Landau-Kleffner syndrome" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224200" "00344" "00296801" "00006" "Familial, autosomal dominant" "" "see paper; ..., continuous spike and wave during slow-wave sleep syndrome, atypical Rolandic epilepsy, dysphasia" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224201" "00344" "00296802" "00006" "Familial, autosomal dominant" "" "see paper; ..., continuous spike and wave during slow-wave sleep syndrome, atypical Rolandic epilepsy, verbal dyspraxia" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224202" "00344" "00296803" "00006" "Familial, autosomal dominant" "" "see paper; ..., atypical Rolandic epilepsy, verbal dyspraxia" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224203" "00344" "00296804" "00006" "Familial, autosomal dominant" "" "see paper; ..., Atypical Rolandic epilepsy, absence epilepsy" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224204" "00344" "00296805" "00006" "Familial, autosomal dominant" "" "see paper; ..., Atypical Rolandic epilepsy, verbal dyspraxia" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224205" "00344" "00296806" "00006" "Familial, autosomal dominant" "" "see paper; ..., Landau-Kleffner syndrome" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224206" "00344" "00296807" "00006" "Familial, autosomal dominant" "" "see paper; ..., continuous spike and wave during slow-wave sleep syndrome" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224207" "00344" "00296808" "00006" "Familial, autosomal dominant" "" "see paper; ..., Landau-Kleffner syndrome" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224208" "00344" "00296809" "00006" "Familial, autosomal dominant" "" "see paper; ..., continuous spike and wave during slow-wave sleep syndrome" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224209" "00344" "00296810" "00006" "Familial, autosomal dominant" "" "see paper; ..., Landau-Kleffner syndrome" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224210" "00344" "00296811" "00006" "Familial, autosomal dominant" "" "see paper; ..., continuous spike and wave during slow-wave sleep syndrome" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224211" "00344" "00296812" "00006" "Familial, autosomal dominant" "" "see paper; ..., Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000224212" "00344" "00296813" "00006" "Familial, autosomal dominant" "" "see paper; ..., continuous spike and wave during slow-wave sleep syndrome" "" "" "" "" "" "" "" "" "" "FESD" "epileptic encephalopathy" "" "0000228530" "00841" "00301260" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000228535" "00841" "00301265" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000228536" "00841" "00301266" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000231824" "04270" "00305978" "00006" "Unknown" "42y" "" "" "" "" "" "" "" "" "" "" "" "temporal lobe epilepsy" "" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" "" "0000236008" "05611" "00310737" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236009" "05611" "00310738" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236010" "05611" "00310739" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236011" "05611" "00310740" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236012" "05611" "00310741" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236013" "05611" "00310742" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236014" "05611" "00310743" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236015" "05611" "00310744" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236016" "05611" "00310745" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236017" "05611" "00310746" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236018" "05611" "00310747" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236019" "05611" "00310748" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236020" "05611" "00310749" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236021" "05611" "00310750" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236022" "05611" "00310751" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236023" "05611" "00310752" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236024" "05611" "00310753" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236025" "05611" "00310754" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236026" "05611" "00310755" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236027" "05611" "00310756" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236028" "05611" "00310757" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236029" "05611" "00310758" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236030" "05611" "00310759" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236031" "05611" "00310760" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236032" "05611" "00310761" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236033" "05611" "00310762" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236034" "05611" "00310763" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236035" "05611" "00310764" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236036" "05611" "00310765" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236037" "05611" "00310766" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236038" "05611" "00310767" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236039" "05611" "00310768" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236040" "05611" "00310769" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree" "" "" "" "" "" "" "" "" "" "" "" "" "0000236041" "05611" "00310770" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236042" "05611" "00310771" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236043" "05611" "00310772" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236044" "05611" "00310773" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236045" "05611" "00310774" "00006" "Isolated (sporadic)" "" "see paper; ..., severe developmental delay/intellectual disability; 5y-partial seizures, electrical status epilepticus in sleep" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236046" "05611" "00310775" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236047" "05611" "00310776" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236048" "05611" "00310777" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236049" "05611" "00310778" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236050" "05611" "00310779" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236051" "05611" "00310780" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree" "" "" "" "" "" "" "" "" "" "" "" "" "0000236052" "05611" "00310781" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236053" "05611" "00310782" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236054" "05611" "00310783" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236055" "05611" "00310784" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236056" "05611" "00310785" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236057" "05611" "00310786" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236058" "05611" "00310787" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236059" "05611" "00310788" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236060" "05611" "00310789" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236061" "05611" "00310790" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236062" "05611" "00310791" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236063" "05611" "00310792" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236064" "05611" "00310793" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236065" "05611" "00310794" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree" "" "" "" "" "" "" "" "" "" "" "" "" "0000236066" "05611" "00310795" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236067" "05611" "00310796" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236068" "05611" "00310797" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236069" "05611" "00310798" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236070" "05611" "00310799" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236071" "05611" "00310800" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236072" "05611" "00310801" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236073" "05611" "00310802" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236074" "05611" "00310803" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236075" "05611" "00310804" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236076" "05611" "00310805" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236077" "05611" "00310806" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236078" "05611" "00310807" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236079" "05611" "00310808" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236080" "05611" "00310809" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236081" "05611" "00310810" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236082" "05611" "00310811" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236083" "05611" "00310812" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236084" "05611" "00310813" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236085" "05611" "00310814" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236086" "05611" "00310815" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236087" "05611" "00310816" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236088" "05611" "00310817" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236089" "05611" "00310818" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236090" "05611" "00310819" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236091" "05611" "00310820" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236092" "05611" "00310821" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236093" "05611" "00310822" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236094" "05611" "00310823" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236095" "05611" "00310824" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236096" "05611" "00310825" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236097" "05611" "00310826" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236098" "05611" "00310827" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236099" "05611" "00310828" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236100" "05611" "00310829" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236101" "05611" "00310830" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236102" "05611" "00310831" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236103" "05611" "00310832" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236104" "05611" "00310833" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236105" "05611" "00310834" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236106" "05611" "00310835" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236107" "05611" "00310836" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236108" "05611" "00310837" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236109" "05611" "00310838" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236110" "05611" "00310839" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236111" "05611" "00310840" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236112" "05611" "00310841" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236113" "05611" "00310842" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236114" "05611" "00310843" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236115" "05611" "00310844" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236116" "05611" "00310845" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236117" "05611" "00310846" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236118" "05611" "00310847" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236119" "05611" "00310848" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236120" "05611" "00310849" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236158" "05611" "00310887" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236159" "05611" "00310888" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236160" "05611" "00310889" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236161" "05611" "00310890" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236162" "05611" "00310891" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236163" "05611" "00310892" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236164" "05611" "00310893" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236165" "05611" "00310894" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236166" "05611" "00310895" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236167" "05611" "00310896" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236168" "05611" "00310897" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236169" "05611" "00310898" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236170" "05611" "00310899" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236171" "05611" "00310900" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236172" "05611" "00310901" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236173" "05611" "00310902" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236174" "05611" "00310903" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236175" "05611" "00310904" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236176" "05611" "00310905" "00006" "Unknown" "" "see paper; ..., no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236177" "05611" "00310906" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236178" "05611" "00310907" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236179" "05611" "00310908" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236180" "05611" "00310909" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236181" "05611" "00310910" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236182" "05611" "00310911" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236183" "05611" "00310912" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236184" "05611" "00310913" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236185" "05611" "00310914" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236186" "05611" "00310915" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236187" "05611" "00310916" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236188" "05611" "00310917" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236189" "05611" "00310918" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236190" "05611" "00310919" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236191" "05611" "00310920" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236192" "05611" "00310921" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236193" "05611" "00310922" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236194" "05611" "00310923" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236195" "05611" "00310924" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236196" "05611" "00310925" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236197" "05611" "00310926" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236198" "05611" "00310927" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236199" "05611" "00310928" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236200" "05611" "00310929" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236201" "05611" "00310930" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236202" "05611" "00310931" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236203" "05611" "00310932" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236204" "05611" "00310933" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236205" "05611" "00310934" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236206" "05611" "00310935" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236207" "05611" "00310936" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236208" "05611" "00310937" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236209" "05611" "00310938" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236210" "05611" "00310939" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236211" "05611" "00310940" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236212" "05611" "00310941" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236213" "05611" "00310942" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236214" "05611" "00310943" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236215" "05611" "00310944" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236216" "05611" "00310945" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236217" "05611" "00310946" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236218" "05611" "00310947" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236219" "05611" "00310948" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236220" "05611" "00310949" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236221" "05611" "00310950" "00006" "Unknown" "" "see paper; ..., no developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236222" "05611" "00310951" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236223" "05611" "00310952" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236224" "05611" "00310953" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236225" "05611" "00310954" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236226" "05611" "00310955" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236237" "05611" "00310966" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236274" "05611" "00311003" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000238643" "00198" "00314885" "00006" "Unknown" "4y" "Severe hyperkinesia, increased tonus, hemiparesis, tonic movements, non-epileptic spasms, EEG normal, hypermetropia, intellectual disability." "1y" "" "" "" "" "" "" "" "" "" "" "" "0000269521" "00198" "00374311" "00006" "Familial, autosomal recessive" "" "Microcephaly, big and low set ears , seizures and delayed milestones" "" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000269549" "00198" "00374339" "00006" "Familial, autosomal dominant" "" "Global developmental delay, seizures, shock sepsis, metabolic aciduria, hypoglycemia, anemia, thrombocytopenia, nephrocalcinosis and hypervitaminosis" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269956" "00198" "00374746" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269957" "00198" "00374747" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269958" "00198" "00374748" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269959" "00198" "00374749" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, autism spectrum disorder" "" "0000269960" "00198" "00374750" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000326569" "04298" "00436389" "03288" "Familial, autosomal dominant" "24y" "At the age of 13 months, he had generalized seizure during hyperpyrexia. Eleven more episodes in subsequent years. EEG studies in asleep and awake and head MRI were normal. No further seizures reported after introduction of valproate." "" "" "" "" "" "" "" "" "" "24y" "1y" "" "0000326570" "04270" "00436390" "03288" "Familial, autosomal dominant" "25" "Focal motor seizures during sleep" "" "" "5" "" "" "" "" "" "" "" "5" "" "0000326571" "05611" "00436390" "03288" "Familial, autosomal dominant" "25" "Developmental deterioration, particulary in the language area and in behavior" "" "" "" "" "" "" "" "" "" "" "" "" "0000332805" "05611" "00443472" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "JABELS" "neuro-ectodermal syndrome" "" "0000333605" "01889" "00444352" "01164" "Unknown" "03y" "Seizure, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000352958" "00198" "00467805" "00006" "Complex" "03y" "see paper; ..., 1d-macrocephaly, mild hypoglycemia, cyanosis; 1y-global delays, gross motor delay (9m-sit, 11m-crawl), speech delay, frontal bossing, short stature, hypertelorism; 3y-walk; mild pseudohypertrophy forearms/calves ; earning difficulties both parents" "" "" "" "" "" "" "" "" "" "DMD;FESD" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 258 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000016254" "00016325" "1" "00681" "00681" "2014-03-12 14:19:52" "00006" "2014-03-14 16:39:00" "SEQ;SEQ-NG-I" "DNA" "" "" "0000016256" "00016327" "1" "00681" "00681" "2014-03-12 14:31:55" "00006" "2014-03-12 21:49:07" "SEQ;SEQ-NG-I" "DNA" "" "" "0000017816" "00017834" "1" "00006" "00006" "2014-07-02 07:16:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000017817" "00017835" "1" "00006" "00006" "2014-07-02 07:23:39" "" "" "SEQ" "DNA" "" "" "0000074583" "00074422" "1" "01470" "01470" "2016-06-29 16:29:50" "" "" "SEQ-NG" "DNA" "Blood" "" "0000117265" "00117037" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117266" "00117045" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117267" "00117085" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117271" "00117116" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117324" "00116856" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117329" "00116861" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117339" "00116871" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117367" "00116899" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117405" "00116937" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117422" "00116954" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117431" "00116963" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117436" "00116968" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117502" "00117019" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117515" "00117035" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117516" "00117036" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117521" "00117044" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117529" "00117054" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117537" "00117063" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117550" "00117077" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117551" "00117078" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117567" "00117097" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000184019" "00183059" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000184021" "00183061" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000208970" "00207925" "1" "01164" "01164" "2018-12-04 16:33:09" "" "" "SEQ-NG" "DNA" "" "" "0000210079" "00209022" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS" "0000277176" "00276029" "1" "01807" "01807" "2020-01-24 11:02:20" "" "" "SEQ" "DNA" "" "" "0000292776" "00291608" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292777" "00291609" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292778" "00291610" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297906" "00296796" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297907" "00296797" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297908" "00296798" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297909" "00296799" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297910" "00296800" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297911" "00296801" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297912" "00296802" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297913" "00296803" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297914" "00296804" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297915" "00296805" "1" "00006" "00006" "2020-04-13 17:15:23" "00006" "2020-04-13 17:30:46" "SEQ" "DNA" "" "" "0000297916" "00296806" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297917" "00296807" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297918" "00296808" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297919" "00296809" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297920" "00296810" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297921" "00296811" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297922" "00296812" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000297923" "00296813" "1" "00006" "00006" "2020-04-13 17:15:23" "" "" "SEQ" "DNA" "" "" "0000302383" "00301260" "1" "03512" "03512" "2020-05-11 20:41:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000302389" "00301265" "1" "03512" "03512" "2020-05-11 20:55:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000302390" "00301266" "1" "03512" "03512" "2020-05-11 20:58:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000307108" "00305978" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" "0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "" "0000308936" "00307796" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000311889" "00310737" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311890" "00310738" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311891" "00310739" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311892" "00310740" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311893" "00310741" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311894" "00310742" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311895" "00310743" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311896" "00310744" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311897" "00310745" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311898" "00310746" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311899" "00310747" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311900" "00310748" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311901" "00310749" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311902" "00310750" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311903" "00310751" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311904" "00310752" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311905" "00310753" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311906" "00310754" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311907" "00310755" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311908" "00310756" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311909" "00310757" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311910" "00310758" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311911" "00310759" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311912" "00310760" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311913" "00310761" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311914" "00310762" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311915" "00310763" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311916" "00310764" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311917" "00310765" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311918" "00310766" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311919" "00310767" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311920" "00310768" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311921" "00310769" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311922" "00310770" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311923" "00310771" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311924" "00310772" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311925" "00310773" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311926" "00310774" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311927" "00310775" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311928" "00310776" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311929" "00310777" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311930" "00310778" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311931" "00310779" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311932" "00310780" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311933" "00310781" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311934" "00310782" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311935" "00310783" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311936" "00310784" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311937" "00310785" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311938" "00310786" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311939" "00310787" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311940" "00310788" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311941" "00310789" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311942" "00310790" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311943" "00310791" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311944" "00310792" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311945" "00310793" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311946" "00310794" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311947" "00310795" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311948" "00310796" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311949" "00310797" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311950" "00310798" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311951" "00310799" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311952" "00310800" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311953" "00310801" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311954" "00310802" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311955" "00310803" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311956" "00310804" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311957" "00310805" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311958" "00310806" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311959" "00310807" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311960" "00310808" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311961" "00310809" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311962" "00310810" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311963" "00310811" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311964" "00310812" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311965" "00310813" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311966" "00310814" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311967" "00310815" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311968" "00310816" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311969" "00310817" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311970" "00310818" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311971" "00310819" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311972" 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"0000311893" "GRIN2A" "0000311894" "GRIN2A" "0000311895" "GRIN2A" "0000311896" "GRIN2A" "0000311897" "GRIN2A" "0000311898" "GRIN2A" "0000311899" "GRIN2A" "0000311900" "GRIN2A" "0000311901" "GRIN2A" "0000311902" "GRIN2A" "0000311903" "GRIN2A" "0000311904" "GRIN2A" "0000311905" "GRIN2A" "0000311906" "GRIN2A" "0000311907" "GRIN2A" "0000311908" "GRIN2A" "0000311909" "GRIN2A" "0000311910" "GRIN2A" "0000311911" "GRIN2A" "0000311912" "GRIN2A" "0000311913" "GRIN2A" "0000311914" "GRIN2A" "0000311915" "GRIN2A" "0000311916" "GRIN2A" "0000311917" "GRIN2A" "0000311918" "GRIN2A" "0000311919" "GRIN2A" "0000311920" "GRIN2A" "0000311921" "GRIN2A" "0000311922" "GRIN2A" "0000311923" "GRIN2A" "0000311924" "GRIN2A" "0000311925" "GRIN2A" "0000311926" "GRIN2A" "0000311927" "GRIN2A" "0000311928" "GRIN2A" "0000311929" "GRIN2A" "0000311930" "GRIN2A" "0000311931" "GRIN2A" "0000311932" "GRIN2A" "0000311933" "GRIN2A" "0000311934" "GRIN2A" "0000311935" "GRIN2A" "0000311936" "GRIN2A" "0000311937" "GRIN2A" "0000311938" "GRIN2A" "0000311939" "GRIN2A" "0000311940" "GRIN2A" "0000311941" "GRIN2A" "0000311942" "GRIN2A" "0000311943" "GRIN2A" "0000311944" "GRIN2A" "0000311945" "GRIN2A" "0000311946" "GRIN2A" "0000311947" "GRIN2A" "0000311948" "GRIN2A" "0000311949" "GRIN2A" "0000311950" "GRIN2A" "0000311951" "GRIN2A" "0000311952" "GRIN2A" "0000311953" "GRIN2A" "0000311954" "GRIN2A" "0000311955" "GRIN2A" "0000311956" "GRIN2A" "0000311957" "GRIN2A" "0000311958" "GRIN2A" "0000311959" "GRIN2A" "0000311960" "GRIN2A" "0000311961" "GRIN2A" "0000311962" "GRIN2A" "0000311963" "GRIN2A" "0000311964" "GRIN2A" "0000311965" "GRIN2A" "0000311966" "GRIN2A" "0000311967" "GRIN2A" "0000311968" "GRIN2A" "0000311969" "GRIN2A" "0000311970" "GRIN2A" "0000311971" "GRIN2A" "0000311972" "GRIN2A" "0000311973" "GRIN2A" "0000311974" "GRIN2A" "0000311975" "GRIN2A" "0000311976" "GRIN2A" "0000311977" "GRIN2A" "0000311978" "GRIN2A" "0000311979" "GRIN2A" "0000311980" "GRIN2A" "0000311981" "GRIN2A" "0000311982" "GRIN2A" "0000311983" "GRIN2A" "0000311984" "GRIN2A" "0000311985" "GRIN2A" "0000311986" "GRIN2A" "0000311987" "GRIN2A" "0000311988" "GRIN2A" "0000311989" "GRIN2A" "0000311990" "GRIN2A" "0000311991" "GRIN2A" "0000311992" "GRIN2A" "0000311993" "GRIN2A" "0000311994" "GRIN2A" "0000311995" "GRIN2A" "0000311996" "GRIN2A" "0000311997" "GRIN2A" "0000311998" "GRIN2A" "0000311999" "GRIN2A" "0000312000" "GRIN2A" "0000312001" "GRIN2A" "0000312039" "GRIN2A" "0000312040" "GRIN2A" "0000312041" "GRIN2A" "0000312042" "GRIN2A" "0000312043" "GRIN2A" "0000312044" "GRIN2A" "0000312045" "GRIN2A" "0000312046" "GRIN2A" "0000312047" "GRIN2A" "0000312048" "GRIN2A" "0000312049" "GRIN2A" "0000312050" "GRIN2A" "0000312051" "GRIN2A" "0000312052" "GRIN2A" "0000312053" "GRIN2A" "0000312054" "GRIN2A" "0000312055" "GRIN2A" "0000312056" "GRIN2A" "0000312057" "GRIN2A" "0000312058" "GRIN2A" "0000312059" "GRIN2A" "0000312060" "GRIN2A" "0000312061" "GRIN2A" "0000312062" "GRIN2A" "0000312063" "GRIN2A" "0000312064" "GRIN2A" "0000312065" "GRIN2A" "0000312066" "GRIN2A" "0000312067" "GRIN2A" "0000312068" "GRIN2A" "0000312069" "GRIN2A" "0000312070" "GRIN2A" "0000312071" "GRIN2A" "0000312072" "GRIN2A" "0000312073" "GRIN2A" "0000312074" "GRIN2A" "0000312075" "GRIN2A" "0000312076" "GRIN2A" "0000312077" "GRIN2A" "0000312078" "GRIN2A" "0000312079" "GRIN2A" "0000312080" "GRIN2A" "0000312081" "GRIN2A" "0000312082" "GRIN2A" "0000312083" "GRIN2A" "0000312084" "GRIN2A" "0000312085" "GRIN2A" "0000312086" "GRIN2A" "0000312087" "GRIN2A" "0000312088" "GRIN2A" "0000312089" "GRIN2A" "0000312090" "GRIN2A" "0000312091" "GRIN2A" "0000312092" "GRIN2A" "0000312093" "GRIN2A" "0000312094" "GRIN2A" "0000312095" "GRIN2A" "0000312096" "GRIN2A" "0000312097" "GRIN2A" "0000312098" "GRIN2A" "0000312099" "GRIN2A" "0000312100" "GRIN2A" "0000312101" "GRIN2A" "0000312102" "GRIN2A" "0000312103" "GRIN2A" "0000312104" "GRIN2A" "0000312105" "GRIN2A" "0000312106" "GRIN2A" "0000312107" "GRIN2A" "0000312118" "GRIN2A" "0000312155" "GRIN2A" "0000316059" "GRIN2A" "0000375505" "EPM2A" "0000375533" "GRIN2A" "0000375940" "GRIN2A" "0000375941" "GRIN2A" "0000375942" "GRIN2A" "0000375943" "GRIN2A" "0000375944" "GRIN2A" "0000437871" "GRIN2A" "0000437872" "GRIN2A" "0000445920" "GRIN2A" ## 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 = 420 "{{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}}" "0000005562" "0" "50" "16" "10206426" "10206426" "subst" "0" "00037" "GRIN2A_000003" "g.10206426G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10112569G>A" "" "VUS" "" "0000005563" "0" "50" "16" "10206652" "10206652" "subst" "0" "00037" "GRIN2A_000005" "g.10206652G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10112795G>A" "" "VUS" "" "0000005564" "0" "50" "16" "10206841" "10206841" "subst" "0" "00037" "GRIN2A_000007" "g.10206841C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10112984C>T" "" "VUS" "" "0000005565" "3" "50" "16" "10206887" "10206887" "subst" "0" "00037" "GRIN2A_000001" "g.10206887A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10113030A>G" "" "VUS" "" "0000013523" "0" "50" "16" "10206426" "10206426" "subst" "0" "00037" "GRIN2A_000003" "g.10206426G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10112569G>A" "" "VUS" "" "0000013524" "0" "50" "16" "10206652" "10206652" "subst" "0" "00037" "GRIN2A_000005" "g.10206652G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10112795G>A" "" "VUS" "" "0000013525" "3" "50" "16" "10206887" "10206887" "subst" "0" "00037" "GRIN2A_000001" "g.10206887A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.10113030A>G" "" "VUS" "" "0000036000" "21" "75" "16" "9892164" "9892164" "subst" "0" "00681" "GRIN2A_000009" "g.9892164C>A" "" "{PMID:Della Mina et al 2014:Submitted}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9798307C>A" "" "likely pathogenic" "" "0000036003" "11" "55" "16" "9927982" "9927982" "subst" "2.44172E-5" "00681" "GRIN2A_000008" "g.9927982C>T" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.9834125C>T" "" "VUS" "" "0000038003" "0" "30" "16" "10031780" "10031780" "subst" "0.00210613" "00006" "GRIN2A_000010" "g.10031780T>G" "1/254 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Unknown" "?" "" "0" "" "" "g.9937923T>G" "" "likely benign" "" "0000038004" "0" "30" "16" "9984792" "9984792" "subst" "0" "00006" "GRIN2A_000011" "g.9984792T>C" "1/254 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Unknown" "?" "" "0" "" "" "g.9890935T>C" "" "likely benign" "" "0000038005" "0" "30" "16" "9916312" "9916313" "dup" "0" "00006" "GRIN2A_000012" "g.9916312_9916313dup" "2/254 cases" "{PMID:Endele 2010:20890276}" "" "2008-32_2008-31dupCT" "" "Unknown" "?" "" "0" "" "" "g.9822455_9822456dup" "" "likely benign" "" "0000038006" "21" "90" "16" "10032171" "10032171" "subst" "0" "00006" "GRIN2A_000013" "g.10032171G>A" "1/254 cases" "{PMID:Endele 2010:20890276}, {OMIM138253:0001}" "" "" "no mRNA expression" "Germline" "yes" "" "0" "" "" "g.9938314G>A" "" "pathogenic" "" "0000038007" "1" "70" "16" "9923442" "9923442" "subst" "0" "00006" "GRIN2A_000014" "g.9923442G>T" "1/254 cases" "{PMID:Endele 2010:20890276}, {OMIM138253:0002}" "" "" "not in 1080 control chromosomes" "De novo" "yes" "" "0" "" "" "g.9829585G>T" "" "likely pathogenic" "" "0000038008" "11" "10" "16" "9943666" "9943666" "subst" "0.249287" "00006" "GRIN2A_000015" "g.9943666C>T" "" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "rs8049651" "0" "" "" "g.9849809C>T" "" "benign" "" "0000038009" "21" "30" "16" "9858211" "9858211" "subst" "0.000540303" "00006" "GRIN2A_000016" "g.9858211T>C" "2/254 cases" "{PMID:Endele 2010:20890276}" "" "" "not in 360 control chromosomes" "Germline" "no" "" "0" "" "" "g.9764354T>C" "" "likely benign" "" "0000038010" "0" "10" "16" "9858173" "9858173" "subst" "4.06237E-6" "00006" "GRIN2A_000017" "g.9858173G>C" "2/254 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Unknown" "?" "" "0" "" "" "g.9764316G>C" "" "benign" "" "0000038011" "1" "10" "16" "9858173" "9858173" "subst" "4.06237E-6" "00006" "GRIN2A_000017" "g.9858173G>C" "7/360 controls" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "-" "" "0" "" "" "g.9764316G>C" "" "benign" "" "0000118964" "0" "70" "16" "9923359" "9923359" "subst" "0" "01470" "GRIN2A_000018" "g.9923359G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.9829502G>T" "" "likely pathogenic" "" "0000188169" "0" "50" "16" "9858393" "9858393" "subst" "0" "02192" "GRIN2A_000024" "g.9858393T>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9764536T>C" "" "VUS" "" "0000188174" "0" "50" "16" "9934947" "9934948" "ins" "0" "02192" "GRIN2A_000019" "g.9934947_9934948insAGGCT" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "frameshift_insertion" "Germline" "" "" "0" "" "" "g.9841090_9841091insAGGCT" "" "VUS" "" "0000188184" "0" "50" "16" "9857784" "9857784" "subst" "2.84356E-5" "02192" "GRIN2A_000022" "g.9857784C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs145861983" "0" "" "" "g.9763927C>T" "" "VUS" "" "0000188250" "0" "50" "16" "9857031" "9857031" "subst" "0" "02192" "GRIN2A_000020" "g.9857031A>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9763174A>G" "" "VUS" "" "0000188267" "0" "50" "16" "9862752" "9862752" "subst" "4.06881E-6" "02192" "GRIN2A_000026" "g.9862752C>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9768895C>G" "" "VUS" "" "0000188276" "0" "50" "16" "10274047" "10274047" "subst" "1.62974E-5" "02192" "GRIN2A_000038" "g.10274047C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.10180190C>T" "" "VUS" "" "0000188332" "0" "50" "16" "9916194" "9916194" "subst" "0" "02192" "GRIN2A_000030" "g.9916194G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9822337G>A" "" "VUS" "" "0000188348" "0" "50" "16" "10031815" "10031815" "subst" "0" "02192" "GRIN2A_000033" "g.10031815C>T" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9937958C>T" "" "VUS" "" "0000188350" "0" "50" "16" "10031815" "10031815" "subst" "0" "02192" "GRIN2A_000034" "g.10031815C>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9937958C>A" "" "VUS" "" "0000188357" "0" "50" "16" "10274033" "10274033" "subst" "4.0712E-6" "02192" "GRIN2A_000037" "g.10274033G>C" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.10180176G>C" "" "VUS" "" "0000188358" "0" "50" "16" "10032131" "10032131" "subst" "0" "02192" "GRIN2A_000035" "g.10032131C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9938274C>T" "" "VUS" "" "0000188367" "0" "50" "16" "9892311" "9892311" "subst" "0" "02192" "GRIN2A_000029" "g.9892311C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9798454C>T" "" "VUS" "" "0000188376" "0" "50" "16" "9862862" "9862862" "subst" "1.21961E-5" "02192" "GRIN2A_000027" "g.9862862A>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9769005A>G" "" "VUS" "" "0000188390" "0" "50" "16" "10031815" "10031815" "subst" "0" "02192" "GRIN2A_000033" "g.10031815C>T" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9937958C>T" "" "VUS" "" "0000188398" "0" "50" "16" "9943635" "9943635" "subst" "0" "02192" "GRIN2A_000032" "g.9943635A>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9849778A>G" "" "VUS" "" "0000188429" "0" "50" "16" "9934516" "9934518" "del" "0" "02192" "GRIN2A_000031" "g.9934516_9934518del" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "nonframeshift_deletion" "Germline" "" "" "0" "" "" "g.9840659_9840661del" "" "VUS" "" "0000188469" "0" "50" "16" "9858153" "9858153" "subst" "0" "02192" "GRIN2A_000023" "g.9858153T>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9764296T>C" "" "VUS" "" "0000188487" "0" "50" "16" "9857778" "9857778" "subst" "0" "02192" "GRIN2A_000021" "g.9857778C>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9763921C>G" "" "VUS" "" "0000188518" "0" "50" "16" "9858691" "9858691" "subst" "0" "02192" "GRIN2A_000025" "g.9858691T>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9764834T>A" "" "VUS" "" "0000188535" "0" "50" "16" "9892290" "9892290" "subst" "0" "02192" "GRIN2A_000028" "g.9892290C>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9798433C>G" "" "VUS" "" "0000188540" "0" "50" "16" "10032276" "10032276" "subst" "4.07269E-5" "02192" "GRIN2A_000036" "g.10032276A>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.9938419A>T" "" "VUS" "" "0000249220" "0" "10" "16" "9934690" "9934690" "del" "0" "02325" "GRIN2A_000064" "g.9934690del" "" "" "" "GRIN2A(NM_000833.5):c.1498-14delT, GRIN2A(NM_001134407.3):c.1498-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9840833del" "" "benign" "" "0000249782" "0" "50" "16" "9862853" "9862853" "subst" "0" "02325" "GRIN2A_000050" "g.9862853A>G" "" "" "" "GRIN2A(NM_001134407.3):c.2450T>C (p.M817T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9768996A>G" "" "VUS" "" "0000251597" "0" "10" "16" "9934690" "9934690" "del" "0" "02326" "GRIN2A_000066" "g.9934690del" "" "" "" "GRIN2A(NM_000833.5):c.1498-14delT, GRIN2A(NM_001134407.3):c.1498-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9840833del" "" "benign" "" "0000251809" "0" "30" "16" "9858023" "9858023" "subst" "4.47715E-5" "02326" "GRIN2A_000044" "g.9858023A>G" "" "" "" "GRIN2A(NM_000833.5):c.3378T>C (p.P1126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764166A>G" "" "likely benign" "" "0000252285" "0" "30" "16" "9863110" "9863110" "subst" "0" "02326" "GRIN2A_000051" "g.9863110A>G" "" "" "" "GRIN2A(NM_000833.5):c.2357-164T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9769253A>G" "" "likely benign" "" "0000252286" "0" "30" "16" "9928100" "9928100" "subst" "0.000480405" "02326" "GRIN2A_000059" "g.9928100A>G" "" "" "" "GRIN2A(NM_000833.5):c.1652-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9834243A>G" "" "likely benign" "" "0000252287" "0" "30" "16" "9934970" "9934970" "subst" "0.000285579" "02326" "GRIN2A_000069" "g.9934970A>C" "" "" "" "GRIN2A(NM_000833.5):c.1329-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9841113A>C" "" "likely benign" "" "0000252288" "0" "30" "16" "9984710" "9984710" "subst" "0" "02326" "GRIN2A_000073" "g.9984710A>G" "" "" "" "GRIN2A(NM_000833.5):c.1122+133T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9890853A>G" "" "likely benign" "" "0000256212" "0" "50" "16" "9857823" "9857823" "subst" "0.000138156" "01943" "GRIN2A_000043" "g.9857823A>C" "" "" "" "GRIN2A(NM_001134407.3):c.3578T>G (p.L1193W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9763966A>C" "" "VUS" "" "0000281150" "0" "90" "16" "9943819" "9943819" "subst" "0" "02325" "GRIN2A_000072" "g.9943819C>A" "" "" "" "GRIN2A(NM_001134407.3):c.1123-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9849962C>A" "" "pathogenic" "" "0000281152" "0" "30" "16" "9858518" "9858518" "subst" "0.000524045" "02325" "GRIN2A_000049" "g.9858518G>A" "" "" "" "GRIN2A(NM_000833.5):c.2883C>T (p.N961=), GRIN2A(NM_001134407.3):c.2883C>T (p.N961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764661G>A" "" "likely benign" "" "0000281153" "0" "30" "16" "9857614" "9857614" "subst" "2.03184E-5" "02325" "GRIN2A_000042" "g.9857614C>T" "" "" "" "GRIN2A(NM_001134407.3):c.3787G>A (p.G1263R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9763757C>T" "" "likely benign" "" "0000281154" "0" "30" "16" "10032401" "10032401" "subst" "0.00112589" "02325" "GRIN2A_000078" "g.10032401G>A" "" "" "" "GRIN2A(NM_000833.5):c.422C>T (p.T141M), GRIN2A(NM_001134407.3):c.422C>T (p.T141M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9938544G>A" "" "likely benign" "" "0000281155" "0" "30" "16" "9857094" "9857094" "subst" "0.000618047" "02325" "GRIN2A_000039" "g.9857094T>C" "" "" "" "GRIN2A(NM_000833.5):c.4307A>G (p.N1436S), GRIN2A(NM_001134407.3):c.4307A>G (p.N1436S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9763237T>C" "" "likely benign" "" "0000281156" "0" "30" "16" "10274178" "10274178" "subst" "0" "02325" "GRIN2A_000081" "g.10274178G>T" "" "" "" "GRIN2A(NM_001134407.3):c.91C>A (p.P31T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10180321G>T" "" "likely benign" "" "0000283384" "0" "90" "16" "9892279" "9892279" "subst" "0" "02329" "GRIN2A_000052" "g.9892279G>T" "" "" "" "GRIN2A(NM_001134407.3):c.2211C>A (p.Y737*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9798422G>T" "" "pathogenic" "" "0000284984" "0" "30" "16" "10031817" "10031817" "subst" "2.86135E-5" "02326" "GRIN2A_000075" "g.10031817G>A" "" "" "" "GRIN2A(NM_001134407.3):c.1006C>T (p.P336S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9937960G>A" "" "likely benign" "" "0000284985" "0" "30" "16" "9984973" "9984973" "subst" "0.00781199" "02326" "GRIN2A_000074" "g.9984973G>C" "" "" "" "GRIN2A(NM_000833.5):c.1008-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9891116G>C" "" "likely benign" "" "0000284986" "0" "10" "16" "9943471" "9943471" "subst" "0" "02326" "GRIN2A_000071" "g.9943471T>A" "" "" "" "GRIN2A(NM_000833.5):c.1328+142A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9849614T>A" "" "benign" "" "0000284987" "0" "30" "16" "9935042" "9935042" "subst" "0" "02326" "GRIN2A_000070" "g.9935042T>A" "" "" "" "GRIN2A(NM_000833.5):c.1329-81A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9841185T>A" "" "likely benign" "" "0000284988" "0" "30" "16" "9934969" "9934969" "subst" "0.00447922" "02326" "GRIN2A_000068" "g.9934969G>A" "" "" "" "GRIN2A(NM_000833.5):c.1329-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9841112G>A" "" "likely benign" "" "0000284989" "0" "30" "16" "9934689" "9934690" "del" "0" "02326" "GRIN2A_000065" "g.9934689_9934690del" "" "" "" "GRIN2A(NM_000833.5):c.1498-15_1498-14delTT, GRIN2A(NM_001134407.3):c.1498-15_1498-14delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9840832_9840833del" "" "likely benign" "" "0000284990" "0" "10" "16" "9934691" "9934691" "subst" "0.00390934" "02326" "GRIN2A_000067" "g.9934691G>A" "" "" "" "GRIN2A(NM_000833.5):c.1498-34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9840834G>A" "" "benign" "" "0000284991" "0" "30" "16" "9934622" "9934622" "subst" "4.07628E-5" "02326" "GRIN2A_000062" "g.9934622C>T" "" "" "" "GRIN2A(NM_000833.5):c.1533G>A (p.S511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9840765C>T" "" "likely benign" "" "0000284992" "0" "90" "16" "9934563" "9934563" "subst" "0" "02326" "GRIN2A_000061" "g.9934563G>A" "" "" "" "GRIN2A(NM_000833.5):c.1592C>T (p.T531M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9840706G>A" "" "pathogenic" "" "0000284993" "0" "10" "16" "9928166" "9928166" "subst" "0" "02326" "GRIN2A_000060" "g.9928166T>C" "" "" "" "GRIN2A(NM_000833.5):c.1652-79A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9834309T>C" "" "benign" "" "0000284994" "0" "30" "16" "9923266" "9923266" "subst" "2.85379E-5" "02326" "GRIN2A_000056" "g.9923266C>G" "" "" "" "GRIN2A(NM_000833.5):c.2007+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9829409C>G" "" "likely benign" "" "0000284996" "0" "10" "16" "9916317" "9916317" "subst" "0.0193022" "02326" "GRIN2A_000055" "g.9916317G>A" "" "" "" "GRIN2A(NM_000833.5):c.2008-36C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9822460G>A" "" "benign" "" "0000284997" "0" "30" "16" "9892300" "9892300" "subst" "0.00632474" "02326" "GRIN2A_000053" "g.9892300G>A" "" "" "" "GRIN2A(NM_000833.5):c.2190C>T (p.Y730=), GRIN2A(NM_001134407.3):c.2190C>T (p.Y730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9798443G>A" "" "likely benign" "" "0000284998" "0" "30" "16" "10274047" "10274047" "subst" "1.62974E-5" "02326" "GRIN2A_000038" "g.10274047C>T" "" "" "" "GRIN2A(NM_000833.5):c.222G>A (p.M74I), GRIN2A(NM_001134407.1):c.222G>A (p.(Met74Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10180190C>T" "" "likely benign" "" "0000284999" "0" "30" "16" "9858518" "9858518" "subst" "0.000524045" "02326" "GRIN2A_000049" "g.9858518G>A" "" "" "" "GRIN2A(NM_000833.5):c.2883C>T (p.N961=), GRIN2A(NM_001134407.3):c.2883C>T (p.N961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764661G>A" "" "likely benign" "" "0000285000" "0" "10" "16" "9858502" "9858502" "subst" "0.00587843" "02326" "GRIN2A_000047" "g.9858502C>G" "" "" "" "GRIN2A(NM_000833.5):c.2899G>C (p.V967L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764645C>G" "" "benign" "" "0000285001" "0" "30" "16" "9858173" "9858173" "subst" "0.00424923" "02326" "GRIN2A_000045" "g.9858173G>T" "" "" "" "GRIN2A(NM_000833.5):c.3228C>A (p.N1076K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764316G>T" "" "likely benign" "" "0000285002" "0" "30" "16" "10273740" "10273740" "subst" "0" "02326" "GRIN2A_000080" "g.10273740C>T" "" "" "" "GRIN2A(NM_000833.5):c.414+115G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10179883C>T" "" "likely benign" "" "0000285003" "0" "90" "16" "10032410" "10032410" "subst" "0" "02326" "GRIN2A_000079" "g.10032410T>C" "" "" "" "GRIN2A(NM_000833.5):c.415-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9938553T>C" "" "pathogenic" "" "0000285004" "0" "30" "16" "10032401" "10032401" "subst" "0.00112589" "02326" "GRIN2A_000078" "g.10032401G>A" "" "" "" "GRIN2A(NM_000833.5):c.422C>T (p.T141M), GRIN2A(NM_001134407.3):c.422C>T (p.T141M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9938544G>A" "" "likely benign" "" "0000285005" "0" "30" "16" "9857094" "9857094" "subst" "0.000618047" "02326" "GRIN2A_000039" "g.9857094T>C" "" "" "" "GRIN2A(NM_000833.5):c.4307A>G (p.N1436S), GRIN2A(NM_001134407.3):c.4307A>G (p.N1436S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9763237T>C" "" "likely benign" "" "0000285006" "0" "30" "16" "10032325" "10032325" "subst" "4.09628E-6" "02326" "GRIN2A_000077" "g.10032325G>C" "" "" "" "GRIN2A(NM_001134407.3):c.498C>G (p.D166E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9938468G>C" "" "likely benign" "" "0000288772" "0" "50" "16" "9923372" "9923372" "subst" "0" "01943" "GRIN2A_000057" "g.9923372C>T" "" "" "" "GRIN2A(NM_001134407.3):c.1915G>A (p.V639I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9829515C>T" "" "VUS" "" "0000288773" "0" "30" "16" "9892300" "9892300" "subst" "0.00632474" "01943" "GRIN2A_000053" "g.9892300G>A" "" "" "" "GRIN2A(NM_000833.5):c.2190C>T (p.Y730=), GRIN2A(NM_001134407.3):c.2190C>T (p.Y730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9798443G>A" "" "likely benign" "" "0000288774" "0" "30" "16" "9858211" "9858211" "subst" "0.000540303" "01943" "GRIN2A_000016" "g.9858211T>C" "" "" "" "GRIN2A(NM_001134407.3):c.3190A>G (p.T1064A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764354T>C" "" "likely benign" "" "0000288775" "0" "50" "16" "9857196" "9857196" "subst" "4.066E-6" "01943" "GRIN2A_000040" "g.9857196C>G" "" "" "" "GRIN2A(NM_001134407.3):c.4205G>C (p.R1402P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9763339C>G" "" "VUS" "" "0000288776" "0" "30" "16" "9857094" "9857094" "subst" "0.000618047" "01943" "GRIN2A_000039" "g.9857094T>C" "" "" "" "GRIN2A(NM_000833.5):c.4307A>G (p.N1436S), GRIN2A(NM_001134407.3):c.4307A>G (p.N1436S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9763237T>C" "" "likely benign" "" "0000288777" "0" "30" "16" "10032161" "10032161" "subst" "0.000630584" "01943" "GRIN2A_000076" "g.10032161T>C" "" "" "" "GRIN2A(NM_001134407.3):c.662A>G (p.K221R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9938304T>C" "" "likely benign" "" "0000324587" "0" "30" "16" "9857216" "9857216" "subst" "4.47184E-5" "01804" "GRIN2A_000041" "g.9857216C>T" "" "" "" "GRIN2A(NM_001134408.1):c.3842G>A (p.(Arg1281Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9763359C>T" "" "likely benign" "" "0000324589" "0" "30" "16" "9858507" "9858507" "subst" "4.06253E-6" "01804" "GRIN2A_000048" "g.9858507G>A" "" "" "" "GRIN2A(NM_001134407.1):c.2894C>T (p.(Thr965Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764650G>A" "" "likely benign" "" "0000324590" "0" "50" "16" "9923453" "9923453" "subst" "0" "01804" "GRIN2A_000058" "g.9923453C>A" "" "" "" "GRIN2A(NM_000833.3):c.1834G>T (p.(Val612Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9829596C>A" "" "VUS" "" "0000340598" "0" "10" "16" "9916204" "9916204" "subst" "0.256105" "02327" "GRIN2A_000089" "g.9916204C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9822347C>G" "" "benign" "" "0000340601" "0" "10" "16" "9943666" "9943666" "subst" "0.249287" "02327" "GRIN2A_000015" "g.9943666C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9849809C>T" "" "benign" "" "0000341025" "0" "30" "16" "9892213" "9892213" "subst" "0.000191046" "02327" "GRIN2A_000087" "g.9892213G>A" "" "" "" "GRIN2A(NM_001134407.3):c.2277C>T (p.T759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9798356G>A" "" "likely benign" "" "0000341937" "0" "50" "16" "9857046" "9857046" "subst" "1.62636E-5" "02327" "GRIN2A_000082" "g.9857046C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9763189C>T" "" "VUS" "" "0000343950" "0" "50" "16" "10032325" "10032325" "subst" "4.09628E-6" "02327" "GRIN2A_000077" "g.10032325G>C" "" "" "" "GRIN2A(NM_001134407.3):c.498C>G (p.D166E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9938468G>C" "" "VUS" "" "0000346261" "0" "50" "16" "9892233" "9892233" "subst" "0" "02327" "GRIN2A_000088" "g.9892233C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9798376C>T" "" "VUS" "" "0000346360" "0" "50" "16" "9858015" "9858015" "subst" "8.13855E-6" "02327" "GRIN2A_000083" "g.9858015T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764158T>C" "" "VUS" "" "0000346819" "0" "50" "16" "9858774" "9858774" "subst" "0.000321496" "02327" "GRIN2A_000086" "g.9858774A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764917A>G" "" "VUS" "" "0000347878" "0" "70" "16" "9923328" "9923328" "subst" "0" "02327" "GRIN2A_000090" "g.9923328C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9829471C>T" "" "likely pathogenic" "" "0000347905" "0" "70" "16" "9862853" "9862853" "subst" "0" "02327" "GRIN2A_000050" "g.9862853A>G" "" "" "" "GRIN2A(NM_001134407.3):c.2450T>C (p.M817T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9768996A>G" "" "likely pathogenic" "" "0000347912" "0" "50" "16" "9858607" "9858607" "subst" "1.21898E-5" "02327" "GRIN2A_000085" "g.9858607T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764750T>C" "" "VUS" "" "0000348502" "0" "90" "16" "9928084" "9928084" "subst" "0" "02327" "GRIN2A_000091" "g.9928084G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9834227G>C" "" "pathogenic" "" "0000349358" "0" "50" "16" "10032200" "10032200" "subst" "1.62729E-5" "02327" "GRIN2A_000092" "g.10032200G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9938343G>A" "" "VUS" "" "0000350226" "0" "50" "16" "9858403" "9858403" "subst" "0" "02327" "GRIN2A_000084" "g.9858403C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764546C>T" "" "VUS" "" "0000350697" "0" "10" "16" "9858502" "9858502" "subst" "0.00587843" "02327" "GRIN2A_000047" "g.9858502C>G" "" "" "" "GRIN2A(NM_000833.5):c.2899G>C (p.V967L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764645C>G" "" "benign" "" "0000351474" "0" "10" "16" "9858173" "9858173" "subst" "0.00424923" "02327" "GRIN2A_000045" "g.9858173G>T" "" "" "" "GRIN2A(NM_000833.5):c.3228C>A (p.N1076K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9764316G>T" "" "benign" "" "0000407957" "0" "90" "16" "9923342" "9923342" "subst" "0" "00006" "GRIN2A_000093" "g.9923342G>C" "" "{PMID:de Ligt 2012:23033978}" "" "NM_000833.3:c.1945C>G (Leu649Val)" "" "De novo" "" "" "0" "" "" "g.9829485G>C" "" "pathogenic" "" "0000407959" "0" "90" "16" "9928084" "9928084" "subst" "0" "00006" "GRIN2A_000091" "g.9928084G>C" "" "{PMID:de Ligt 2012:23033978}" "" "NM_000833.3:c.1655C>G (Pro552Arg)" "" "De novo" "" "" "0" "" "" "g.9834227G>C" "" "pathogenic" "" "0000439033" "0" "50" "16" "10032120" "10032120" "subst" "0" "01164" "GRIN2A_000094" "g.10032120C>T" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "" "0" "" "" "g.9938263C>T" "" "VUS" "ACMG" "0000441249" "0" "90" "16" "9916239" "9916239" "subst" "0" "00006" "GRIN2A_000095" "g.9916239T>C" "" "{PMID:Lionel 2018:28771251}" "" "" "" "De novo" "" "" "0" "" "" "g.9822382T>C" "" "pathogenic (dominant)" "" "0000556394" "0" "90" "16" "10031980" "10031980" "subst" "0" "02327" "GRIN2A_000110" "g.10031980G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9938123G>C" "" "pathogenic" "" "0000556395" "0" "30" "16" "10032004" "10032004" "subst" "0.000191248" "01943" "GRIN2A_000111" "g.10032004T>C" "" "" "" "GRIN2A(NM_000833.5):c.819A>G (p.P273=), GRIN2A(NM_001134407.3):c.819A>G (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9938147T>C" "" "likely benign" "" "0000556396" "0" "30" "16" "10032004" "10032004" "subst" "0.000191248" "02326" "GRIN2A_000111" "g.10032004T>C" "" "" "" "GRIN2A(NM_000833.5):c.819A>G (p.P273=), GRIN2A(NM_001134407.3):c.819A>G (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9938147T>C" "" "likely benign" "" "0000556398" "0" "30" "16" "10032401" "10032401" "subst" "0.00112589" "01943" "GRIN2A_000078" "g.10032401G>A" "" "" "" "GRIN2A(NM_000833.5):c.422C>T (p.T141M), GRIN2A(NM_001134407.3):c.422C>T (p.T141M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9938544G>A" "" "likely benign" "" "0000556469" "0" "50" "16" "10273908" "10273908" "subst" "0" "01804" "GRIN2A_000113" "g.10273908A>G" "" "" "" "GRIN2A(NM_000833.3):c.361T>C (p.(Phe121Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10180051A>G" "" "VUS" "" "0000560139" "0" "70" "16" "9857383" "9857383" "subst" "0" "02327" "GRIN2A_000096" "g.9857383T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9763526T>A" "" "likely pathogenic" "" "0000560140" "0" "50" "16" "9857574" "9857574" "subst" "0.00057695" "01943" "GRIN2A_000097" "g.9857574G>C" "" "" "" "GRIN2A(NM_001134407.3):c.3827C>G (p.A1276G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9763717G>C" "" "VUS" "" "0000560141" "0" "30" "16" "9857574" "9857574" "subst" "0.00057695" "02325" "GRIN2A_000097" "g.9857574G>C" "" "" "" "GRIN2A(NM_001134407.3):c.3827C>G (p.A1276G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9763717G>C" "" "likely benign" "" "0000560142" "0" "50" "16" "9857857" "9857857" "subst" "8.12757E-6" "02327" "GRIN2A_000098" "g.9857857C>T" "" "" "" "GRIN2A(NM_001134407.1):c.3544G>A (p.(Asp1182Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9764000C>T" "" "VUS" "" "0000560143" "0" "50" "16" "9857865" "9857865" "subst" "0" "02327" "GRIN2A_000099" "g.9857865G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9764008G>A" "" "VUS" "" "0000560144" "0" "50" "16" "9857922" "9857922" "subst" "0" "02329" "GRIN2A_000100" "g.9857922T>C" "" "" "" "GRIN2A(NM_001134407.3):c.3479A>G (p.K1160R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9764065T>C" "" "VUS" "" "0000560145" "0" "50" "16" "9858435" "9858435" "subst" "5.28533E-5" "02326" "GRIN2A_000101" "g.9858435T>C" "" "" "" "GRIN2A(NM_000833.5):c.2966A>G (p.N989S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9764578T>C" "" "VUS" "" "0000560146" "0" "90" "16" "9862847" "9862847" "subst" "0" "02327" "GRIN2A_000102" "g.9862847C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9768990C>G" "" "pathogenic" "" "0000560147" "0" "30" "16" "9891996" "9891996" "subst" "0" "02326" "GRIN2A_000103" "g.9891996T>C" "" "" "" "GRIN2A(NM_000833.5):c.2356+138A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9798139T>C" "" "likely benign" "" "0000560148" "0" "30" "16" "9892019" "9892019" "subst" "0" "02326" "GRIN2A_000104" "g.9892019A>G" "" "" "" "GRIN2A(NM_000833.5):c.2356+115T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9798162A>G" "" "likely benign" "" "0000560149" "0" "70" "16" "9892212" "9892212" "subst" "0" "02327" "GRIN2A_000105" "g.9892212C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9798355C>T" "" "likely pathogenic" "" "0000560150" "0" "30" "16" "9892340" "9892340" "subst" "0" "02326" "GRIN2A_000106" "g.9892340A>G" "" "" "" "GRIN2A(NM_000833.5):c.2169-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9798483A>G" "" "likely benign" "" "0000560151" "0" "30" "16" "9892362" "9892362" "subst" "0" "02326" "GRIN2A_000107" "g.9892362G>A" "" "" "" "GRIN2A(NM_000833.5):c.2169-41C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9798505G>A" "" "likely benign" "" "0000560152" "0" "30" "16" "9916312" "9916313" "dup" "0" "02326" "GRIN2A_000012" "g.9916312_9916313dup" "" "" "" "GRIN2A(NM_000833.5):c.2008-24_2008-23dupCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9822455_9822456dup" "" "likely benign" "" "0000560153" "0" "10" "16" "9934689" "9934690" "dup" "0" "02325" "GRIN2A_000108" "g.9934689_9934690dup" "" "" "" "GRIN2A(NM_001134407.3):c.1498-15_1498-14dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9840832_9840833dup" "" "benign" "" "0000560154" "0" "10" "16" "9984759" "9984759" "subst" "0" "02326" "GRIN2A_000109" "g.9984759C>T" "" "" "" "GRIN2A(NM_000833.5):c.1122+84G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9890902C>T" "" "benign" "" "0000616320" "0" "30" "16" "9857866" "9857866" "subst" "3.6572E-5" "01943" "GRIN2A_000114" "g.9857866A>C" "" "" "" "GRIN2A(NM_001134407.3):c.3535T>G (p.S1179A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9764009A>C" "" "likely benign" "" "0000616322" "0" "70" "16" "9923342" "9923342" "subst" "0" "02327" "GRIN2A_000093" "g.9923342G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9829485G>C" "" "likely pathogenic" "" "0000616323" "0" "90" "16" "9934645" "9934645" "subst" "0" "02327" "GRIN2A_000118" "g.9934645G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9840788G>A" "" "pathogenic" "" "0000616324" "0" "70" "16" "9984868" "9984868" "subst" "0" "02325" "GRIN2A_000120" "g.9984868A>G" "" "" "" "GRIN2A(NM_001134407.3):c.1097T>C (p.L366P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9891011A>G" "" "likely pathogenic" "" "0000623348" "0" "30" "16" "10031881" "10031881" "subst" "0.000334094" "02326" "GRIN2A_000121" "g.10031881G>A" "" "" "" "GRIN2A(NM_000833.5):c.942C>T (p.P314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9938024G>A" "" "likely benign" "" "0000623349" "0" "10" "16" "10031884" "10031884" "subst" "0.000281087" "02326" "GRIN2A_000122" "g.10031884G>A" "" "" "" "GRIN2A(NM_000833.5):c.939C>T (p.I313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9938027G>A" "" "benign" "" "0000623350" "0" "30" "16" "10032013" "10032013" "subst" "0.000199404" "02326" "GRIN2A_000123" "g.10032013T>C" "" "" "" "GRIN2A(NM_000833.5):c.810A>G (p.K270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9938156T>C" "" "likely benign" "" "0000623606" "0" "50" "16" "9928022" "9928022" "subst" "0" "02325" "GRIN2A_000117" "g.9928022C>T" "" "" "" "GRIN2A(NM_001134407.3):c.1717G>A (p.V573I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9834165C>T" "" "VUS" "" "0000623607" "0" "30" "16" "9943735" "9943735" "subst" "0" "01943" "GRIN2A_000119" "g.9943735A>G" "" "" "" "GRIN2A(NM_001134407.3):c.1206T>C (p.D402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9849878A>G" "" "likely benign" "" "0000631920" "0" "90" "16" "9858741" "9858741" "del" "0" "01807" "GRIN2A_000124" "g.9858741del" "" "" "" "2660delT" "" "Unknown" "" "" "0" "" "" "g.9764884del" "" "pathogenic" "" "0000649465" "1" "30" "16" "9854082" "9854082" "subst" "0" "03575" "GRIN2A_000125" "g.9854082T>G" "7/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs77580194}" "Germline" "" "rs77580194" "0" "" "" "g.9760225T>G" "" "likely benign" "" "0000649466" "1" "30" "16" "9858173" "9858173" "subst" "0.00424923" "03575" "GRIN2A_000045" "g.9858173G>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs61758995}" "Germline" "" "rs61758995" "0" "" "" "g.9764316G>T" "" "likely benign" "" "0000649467" "1" "50" "16" "9858774" "9858774" "subst" "0.000321496" "03575" "GRIN2A_000086" "g.9858774A>G" "10/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; {DB:CLININrs199784503}" "Germline" "" "rs199784503" "0" "" "" "g.9764917A>G" "" "VUS" "" "0000658029" "0" "50" "16" "9857737" "9857737" "subst" "4.06147E-6" "02327" "GRIN2A_000126" "g.9857737G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9763880G>C" "" "VUS" "" "0000660609" "1" "90" "16" "9943820" "9943820" "subst" "0" "00006" "GRIN2A_000127" "g.9943820T>C" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9849963T>C" "" "pathogenic (dominant)" "" "0000660610" "1" "90" "16" "10246239" "10321593" "del" "0" "00006" "GRIN2A_000128" "g.(10227121_10246239)_(10321593_10354862)del" "" "{PMID:Lesca 2013:23933820}" "" "arr 16p13.2 (10,227,121×2, 10,246,239-10,321,593×1, 10,354,862×2)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000660611" "1" "90" "16" "9915756" "9915815" "del" "0" "00006" "GRIN2A_000129" "g.(9908477_9915756)_(9915815_9934830)del" "" "{PMID:Lesca 2013:23933820}" "" "arr 16p13.2 (9,908,477×2, 9,915,756-9,915,815×1,9,934,830×2)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000660612" "1" "90" "16" "9857240" "9857240" "subst" "0" "00006" "GRIN2A_000130" "g.9857240G>T" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9763383G>T" "" "pathogenic (dominant)" "" "0000660613" "1" "90" "16" "9934645" "9934645" "subst" "0" "00006" "GRIN2A_000118" "g.9934645G>A" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9840788G>A" "" "pathogenic (dominant)" "" "0000660614" "1" "90" "16" "9934843" "9934843" "subst" "0" "00006" "GRIN2A_000140" "g.9934843C>T" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9840986C>T" "" "pathogenic (dominant)" "" "0000660615" "1" "90" "16" "9934602" "9934602" "subst" "0" "00006" "GRIN2A_000139" "g.9934602C>T" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9840745C>T" "" "pathogenic (dominant)" "" "0000660616" "1" "90" "16" "9892299" "9892299" "subst" "0" "00006" "GRIN2A_000133" "g.9892299C>T" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9798442C>T" "" "pathogenic (dominant)" "" "0000660617" "1" "90" "16" "9857650" "9857650" "subst" "0" "00006" "GRIN2A_000131" "g.9857650C>T" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9763793C>T" "" "pathogenic (dominant)" "" "0000660618" "1" "90" "16" "9916143" "9916143" "subst" "4.06468E-6" "00006" "GRIN2A_000134" "g.9916143C>T" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9822286C>T" "" "pathogenic (dominant)" "" "0000660619" "11" "90" "16" "9858604" "9858604" "subst" "0" "00006" "GRIN2A_000132" "g.9858604C>T" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "" "" "0" "" "" "g.9764747C>T" "" "pathogenic (dominant)" "" "0000660620" "21" "90" "16" "10032272" "10032272" "subst" "0" "00006" "GRIN2A_000142" "g.10032272A>C" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline" "" "" "0" "" "" "g.9938415A>C" "" "pathogenic (dominant)" "" "0000660621" "0" "90" "16" "9916208" "9916208" "subst" "0" "00006" "GRIN2A_000135" "g.9916208A>G" "" "{PMID:Lesca 2013:23933820}" "" "" "" "De novo" "" "" "0" "" "" "g.9822351A>G" "" "pathogenic (dominant)" "" "0000660622" "0" "90" "16" "9923333" "9923333" "subst" "0" "00006" "GRIN2A_000137" "g.9923333A>C" "" "{PMID:Lesca 2013:23933820}" "" "" "" "De novo" "" "" "0" "" "" "g.9829476A>C" "" "pathogenic (dominant)" "" "0000660623" "0" "90" "16" "9934513" "9934513" "subst" "0" "00006" "GRIN2A_000138" "g.9934513C>T" "" "{PMID:Lesca 2013:23933820}" "" "" "" "De novo" "" "" "0" "" "" "g.9840656C>T" "" "pathogenic (dominant)" "" "0000660624" "0" "90" "16" "9923280" "9923280" "subst" "0" "00006" "GRIN2A_000136" "g.9923280C>A" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829423C>A" "" "pathogenic (dominant)" "" "0000660625" "0" "90" "16" "10031940" "10031940" "subst" "4.88655E-5" "00006" "GRIN2A_000141" "g.10031940C>T" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.9938083C>T" "" "pathogenic (dominant)" "" "0000660626" "0" "70" "16" "9857574" "9857574" "subst" "0.00057695" "00006" "GRIN2A_000097" "g.9857574G>C" "" "{PMID:Lesca 2013:23933820}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.9763717G>C" "" "likely pathogenic (dominant)" "" "0000665616" "0" "50" "16" "9858605" "9858605" "subst" "8.12638E-6" "03512" "GRIN2A_000143" "g.9858605C>G" "" "{PMID:Minardi 2020:32725632}" "" "" "mother wild type" "Germline" "" "" "" "" "" "g.9764748C>G" "" "VUS" "" "0000665622" "0" "50" "16" "9858709" "9858709" "subst" "0" "03512" "GRIN2A_000144" "g.9858709G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.9764852G>A" "" "VUS" "" "0000665623" "0" "50" "16" "9923492" "9923492" "subst" "0" "03512" "GRIN2A_000145" "g.9923492A>G" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.9829635A>G" "" "VUS" "" "0000673673" "0" "50" "16" "9858666" "9858668" "del" "0" "00006" "GRIN2A_000146" "g.9858666_9858668del" "" "{PMID:Johannesen 2020:32427350}" "" "2736_2738delCTC" "ACMG PM2, PM4; father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.9764809_9764811del" "" "VUS" "ACMG" "0000675198" "0" "70" "16" "10273938" "10273938" "subst" "0" "03753" "GRIN2A_000150" "g.10273938G>A" "0.035" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000675216" "0" "70" "16" "9857278" "9857278" "subst" "0" "03753" "GRIN2A_000147" "g.9857278G>A" "0.047" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000680768" "0" "30" "16" "9857503" "9857503" "subst" "8.95328E-5" "02326" "GRIN2A_000148" "g.9857503T>C" "" "" "" "GRIN2A(NM_000833.5):c.3898A>G (p.R1300G), GRIN2A(NM_001134407.3):c.3898A>G (p.R1300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680769" "0" "90" "16" "9858457" "9858457" "subst" "0" "02327" "GRIN2A_000149" "g.9858457C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000683370" "0" "70" "16" "9858474" "9858474" "subst" "8.12863E-6" "00006" "GRIN2A_000151" "g.9858474T>C" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.9764617T>C" "" "likely pathogenic (dominant)" "" "0000687440" "0" "90" "16" "9943709" "9943709" "subst" "0" "00006" "GRIN2A_000194" "g.9943709A>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9849852A>T" "" "pathogenic" "" "0000687441" "0" "90" "16" "9943635" "9943635" "subst" "0" "00006" "GRIN2A_000032" "g.9943635A>G" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9849778A>G" "" "pathogenic" "" "0000687442" "0" "90" "16" "9934798" "9934798" "subst" "0" "00006" "GRIN2A_000193" "g.9934798C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9840941C>T" "" "pathogenic" "" "0000687443" "0" "90" "16" "9934603" "9934603" "subst" "4.07159E-6" "00006" "GRIN2A_000192" "g.9934603G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840746G>A" "" "pathogenic" "" "0000687444" "0" "90" "16" "9934603" "9934603" "subst" "4.07159E-6" "00006" "GRIN2A_000192" "g.9934603G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9840746G>A" "" "pathogenic" "" "0000687445" "0" "90" "16" "9934602" "9934602" "subst" "0" "00006" "GRIN2A_000139" "g.9934602C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840745C>T" "" "pathogenic" "" "0000687446" "0" "90" "16" "9934602" "9934602" "subst" "0" "00006" "GRIN2A_000139" "g.9934602C>T" "" "{PMID:Conroy 2014:24828792}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840745C>T" "" "pathogenic" "" "0000687447" "0" "90" "16" "9934563" "9934563" "subst" "0" "00006" "GRIN2A_000061" "g.9934563G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840706G>A" "" "pathogenic" "" "0000687448" "0" "90" "16" "9934563" "9934563" "subst" "0" "00006" "GRIN2A_000061" "g.9934563G>A" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840706G>A" "" "pathogenic" "" "0000687449" "0" "90" "16" "9934560" "9934560" "subst" "0" "00006" "GRIN2A_000189" "g.9934560C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9840703C>A" "" "pathogenic" "" "0000687450" "0" "90" "16" "9934513" "9934513" "subst" "0" "00006" "GRIN2A_000187" "g.9934513C>G" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9840656C>G" "" "pathogenic" "" "0000687451" "0" "90" "16" "9928084" "9928084" "subst" "0" "00006" "GRIN2A_000091" "g.9928084G>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9834227G>C" "" "pathogenic" "" "0000687452" "0" "90" "16" "9923455" "9923455" "subst" "0" "00006" "GRIN2A_000180" "g.9923455A>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829598A>T" "" "pathogenic" "" "0000687453" "0" "90" "16" "9923446" "9923446" "subst" "0" "00006" "GRIN2A_000179" "g.9923446T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829589T>C" "" "pathogenic" "" "0000687454" "0" "90" "16" "9923446" "9923446" "subst" "0" "00006" "GRIN2A_000179" "g.9923446T>C" "" "{PMID:Farwell 2015:25356970}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "De novo" "" "" "0" "" "" "g.9829589T>C" "" "pathogenic" "" "0000687455" "0" "90" "16" "9923446" "9923446" "subst" "0" "00006" "GRIN2A_000179" "g.9923446T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829589T>C" "" "pathogenic" "" "0000687456" "0" "90" "16" "9923446" "9923446" "subst" "0" "00006" "GRIN2A_000179" "g.9923446T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829589T>C" "" "pathogenic" "" "0000687457" "0" "90" "16" "9923442" "9923442" "subst" "0" "00006" "GRIN2A_000014" "g.9923442G>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9829585G>T" "" "pathogenic" "" "0000687458" "0" "90" "16" "9923384" "9923384" "subst" "0" "00006" "GRIN2A_000178" "g.9923384C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829527C>T" "" "pathogenic" "" "0000687459" "0" "90" "16" "9923357" "9923357" "subst" "0" "00006" "GRIN2A_000177" "g.9923357T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829500T>C" "" "pathogenic" "" "0000687460" "0" "90" "16" "9923351" "9923351" "subst" "0" "00006" "GRIN2A_000176" "g.9923351T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829494T>C" "" "pathogenic" "" "0000687461" "0" "90" "16" "9923351" "9923351" "subst" "0" "00006" "GRIN2A_000176" "g.9923351T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829494T>C" "" "pathogenic" "" "0000687462" "0" "90" "16" "9923344" "9923344" "subst" "0" "00006" "GRIN2A_000175" "g.9923344T>C" "" "{PMID:Retterer 2015:25356966}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829487T>C" "" "likely pathogenic" "" "0000687463" "0" "90" "16" "9923344" "9923344" "subst" "0" "00006" "GRIN2A_000175" "g.9923344T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829487T>C" "" "pathogenic" "" "0000687464" "0" "90" "16" "9923344" "9923344" "subst" "0" "00006" "GRIN2A_000175" "g.9923344T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829487T>C" "" "pathogenic" "" "0000687465" "0" "90" "16" "9923342" "9923342" "subst" "0" "00006" "GRIN2A_000093" "g.9923342G>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829485G>C" "" "pathogenic" "" "0000687466" "0" "90" "16" "9923340" "9923341" "delins" "0" "00006" "GRIN2A_000174" "g.9923340_9923341delinsAG" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829483_9829484delinsAG" "" "pathogenic" "" "0000687467" "0" "90" "16" "9923330" "9923330" "subst" "0" "00006" "GRIN2A_000173" "g.9923330T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829474T>C" "" "pathogenic" "" "0000687468" "0" "90" "16" "9923328" "9923328" "subst" "0" "00006" "GRIN2A_000090" "g.9923328C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829471C>T" "" "pathogenic" "" "0000687469" "0" "90" "16" "9923326" "9923326" "subst" "0" "00006" "GRIN2A_000172" "g.9923326A>G" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829469A>G" "" "pathogenic" "" "0000687470" "0" "90" "16" "9916239" "9916239" "subst" "0" "00006" "GRIN2A_000095" "g.9916239T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9822382T>C" "" "pathogenic" "" "0000687471" "0" "90" "16" "9916205" "9916205" "subst" "0" "00006" "GRIN2A_000167" "g.9916205C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9822348C>T" "" "pathogenic" "" "0000687472" "0" "90" "16" "9916205" "9916205" "subst" "0" "00006" "GRIN2A_000167" "g.9916205C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9822348C>T" "" "pathogenic" "" "0000687473" "0" "90" "16" "9916194" "9916194" "subst" "0" "00006" "GRIN2A_000030" "g.9916194G>A" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9822337G>A" "" "pathogenic" "" "0000687474" "0" "90" "16" "9916151" "9916151" "subst" "0" "00006" "GRIN2A_000165" "g.9916151A>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9822294A>C" "" "pathogenic" "" "0000687475" "0" "90" "16" "9916143" "9916143" "subst" "4.06468E-6" "00006" "GRIN2A_000134" "g.9916143C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9822286C>T" "" "pathogenic" "" "0000687476" "0" "90" "16" "9916143" "9916143" "subst" "4.06468E-6" "00006" "GRIN2A_000134" "g.9916143C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822286C>T" "" "pathogenic" "" "0000687477" "0" "90" "16" "9892299" "9892299" "subst" "0" "00006" "GRIN2A_000133" "g.9892299C>T" "" "{PMID:Zhang 2015:26544041}" "" "" "" "De novo" "" "" "0" "" "" "g.9798442C>T" "" "likely pathogenic (dominant)" "" "0000687478" "0" "90" "16" "9892299" "9892299" "subst" "0" "00006" "GRIN2A_000133" "g.9892299C>T" "" "{PMID:Dyment 2015:25046240}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9798442C>T" "" "pathogenic" "" "0000687479" "0" "90" "16" "9892299" "9892299" "subst" "0" "00006" "GRIN2A_000133" "g.9892299C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9798442C>T" "" "pathogenic" "" "0000687480" "0" "90" "16" "9892293" "9892293" "subst" "0" "00006" "GRIN2A_000163" "g.9892293C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9798436C>T" "" "pathogenic" "" "0000687481" "0" "90" "16" "9892164" "9892164" "subst" "0" "00006" "GRIN2A_000009" "g.9892164C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9798307C>A" "" "pathogenic" "" "0000687482" "0" "90" "16" "9892164" "9892164" "subst" "0" "00006" "GRIN2A_000009" "g.9892164C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9798307C>A" "" "pathogenic" "" "0000687483" "0" "90" "16" "9862876" "9862876" "subst" "0" "00006" "GRIN2A_000156" "g.9862876G>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9769019G>T" "" "pathogenic" "" "0000687484" "0" "90" "16" "9862869" "9862869" "subst" "0" "00006" "GRIN2A_000155" "g.9862869G>T" "" "{PMID:Yuan 2014:24504326}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9769012G>T" "" "pathogenic" "" "0000687485" "0" "90" "16" "9862854" "9862854" "subst" "0" "00006" "GRIN2A_000154" "g.9862854T>C" "" "{PMID:Venkateswaran 2014:24903190}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9768997T>C" "" "pathogenic" "" "0000687486" "0" "90" "16" "9862854" "9862854" "subst" "0" "00006" "GRIN2A_000154" "g.9862854T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9768997T>C" "" "pathogenic" "" "0000687487" "0" "90" "16" "9862854" "9862854" "subst" "0" "00006" "GRIN2A_000154" "g.9862854T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9768997T>C" "" "pathogenic" "" "0000687488" "0" "90" "16" "9862853" "9862853" "subst" "0" "00006" "GRIN2A_000050" "g.9862853A>G" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9768996A>G" "" "pathogenic" "" "0000687489" "0" "90" "16" "9862853" "9862853" "subst" "0" "00006" "GRIN2A_000050" "g.9862853A>G" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9768996A>G" "" "pathogenic" "" "0000687490" "0" "90" "16" "9862853" "9862853" "subst" "0" "00006" "GRIN2A_000153" "g.9862853A>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9768996A>C" "" "pathogenic" "" "0000687491" "0" "90" "16" "9862850" "9862850" "subst" "0" "00006" "GRIN2A_000152" "g.9862850G>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9768993G>T" "" "pathogenic" "" "0000687492" "0" "90" "16" "10274267" "10274267" "subst" "0" "00006" "GRIN2A_000205" "g.10274267A>G" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180410A>G" "" "pathogenic" "" "0000687493" "0" "90" "16" "10274097" "10274097" "subst" "4.085E-6" "00006" "GRIN2A_000202" "g.10274097C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180240C>A" "" "pathogenic" "" "0000687494" "0" "90" "16" "10274097" "10274097" "subst" "4.085E-6" "00006" "GRIN2A_000202" "g.10274097C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180240C>A" "" "pathogenic" "" "0000687495" "0" "90" "16" "10274092" "10274095" "dup" "0" "00006" "GRIN2A_000201" "g.10274092_10274095dup" "" "" "" "176_179dupAGGC" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.10180235_10180238dup" "" "pathogenic" "" "0000687496" "0" "90" "16" "10032410" "10032410" "subst" "0" "00006" "GRIN2A_000079" "g.10032410T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938553T>C" "" "pathogenic" "" "0000687497" "0" "90" "16" "10032375" "10032378" "delins" "0" "00006" "GRIN2A_000200" "g.10032375_10032378delinsN[69]" "" "" "" "445_448delGCGTins69" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938518_9938521delinsN[69]" "" "pathogenic" "" "0000687498" "0" "90" "16" "10032323" "10032323" "subst" "0" "00006" "GRIN2A_000198" "g.10032323C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9938466C>T" "" "pathogenic" "" "0000687499" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687500" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687501" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687502" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687503" "0" "90" "16" "10032197" "10032197" "del" "0" "00006" "GRIN2A_000196" "g.10032197del" "" "{PMID:Retterer 2015:25356966}" "" "627delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.9938340del" "" "pathogenic" "" "0000687504" "0" "90" "16" "10032197" "10032197" "del" "0" "00006" "GRIN2A_000196" "g.10032197del" "" "" "" "627delC" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9938340del" "" "pathogenic" "" "0000687505" "0" "90" "16" "10032171" "10032171" "subst" "0" "00006" "GRIN2A_000013" "g.10032171G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938314G>A" "" "pathogenic" "" "0000687506" "0" "90" "16" "10031822" "10031822" "subst" "0" "00006" "GRIN2A_000195" "g.10031822A>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937965A>T" "" "pathogenic" "" "0000687507" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687508" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687509" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687510" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000034" "g.10031815C>A" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>A" "" "pathogenic" "" "0000687511" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000034" "g.10031815C>A" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>A" "" "pathogenic" "" "0000687512" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Van Bogaert 2006:16898254}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687513" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687514" "0" "90" "16" "9943819" "9943819" "subst" "0" "00006" "GRIN2A_000072" "g.9943819C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9849962C>A" "" "pathogenic" "" "0000687515" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "1497+1G>C(?)" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687516" "0" "90" "16" "9934570" "9934570" "del" "0" "00006" "GRIN2A_000191" "g.9934570del" "" "{PMID:Lemke 2013:23933819}" "" "1585delG" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840713del" "" "pathogenic" "" "0000687517" "0" "90" "16" "9934569" "9934569" "del" "0" "00006" "GRIN2A_000190" "g.9934569del" "" "" "" "1586delT" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840712del" "" "pathogenic" "" "0000687518" "0" "90" "16" "9934542" "9934542" "subst" "0" "00006" "GRIN2A_000188" "g.9934542G>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9840685G>C" "" "pathogenic" "" "0000687519" "0" "90" "16" "9923504" "9923505" "ins" "0" "00006" "GRIN2A_000183" "g.9923504_9923505insAA" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9829647_9829648insAA" "" "pathogenic" "" "0000687520" "0" "90" "16" "9923503" "9923504" "del" "4.07133E-6" "00006" "GRIN2A_000182" "g.9923503_9923504del" "" "" "" "1783_1784delCA" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9829646_9829647del" "" "pathogenic" "" "0000687521" "0" "90" "16" "9923469" "9923469" "subst" "0" "00006" "GRIN2A_000181" "g.9923469C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829612C>T" "" "pathogenic" "" "0000687522" "0" "90" "16" "9923279" "9923279" "subst" "0" "00006" "GRIN2A_000171" "g.9923279C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9829422C>T" "" "pathogenic" "" "0000687523" "0" "90" "16" "9923278" "9923278" "dup" "0" "00006" "GRIN2A_000170" "g.9923278dup" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9829421dup" "" "pathogenic" "" "0000687524" "0" "90" "16" "9923278" "9923278" "dup" "0" "00006" "GRIN2A_000170" "g.9923278dup" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9829421dup" "" "pathogenic" "" "0000687525" "0" "90" "16" "9916248" "9916248" "subst" "0" "00006" "GRIN2A_000168" "g.9916248G>A" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822391G>A" "" "pathogenic" "" "0000687526" "0" "90" "16" "9916248" "9916248" "subst" "0" "00006" "GRIN2A_000168" "g.9916248G>A" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822391G>A" "" "pathogenic" "" "0000687527" "0" "90" "16" "9916248" "9916248" "subst" "0" "00006" "GRIN2A_000168" "g.9916248G>A" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822391G>A" "" "pathogenic" "" "0000687528" "0" "90" "16" "9916248" "9916248" "subst" "0" "00006" "GRIN2A_000168" "g.9916248G>A" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822391G>A" "" "pathogenic" "" "0000687529" "0" "90" "16" "9916248" "9916248" "subst" "0" "00006" "GRIN2A_000168" "g.9916248G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822391G>A" "" "pathogenic" "" "0000687530" "0" "90" "16" "9916149" "9916149" "del" "0" "00006" "GRIN2A_000164" "g.9916149del" "" "" "" "2140delG" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9822292del" "" "pathogenic" "" "0000687531" "0" "90" "16" "9892239" "9892239" "dup" "0" "00006" "GRIN2A_000161" "g.9892239dup" "" "" "" "2253dupG" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9798382dup" "" "pathogenic" "" "0000687532" "0" "90" "16" "9892147" "9892149" "delins" "0" "00006" "GRIN2A_000159" "g.9892147_9892149delinsAT" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9798290_9798292delinsAT" "" "pathogenic" "" "0000687533" "0" "90" "16" "9862896" "9862896" "subst" "0" "00006" "GRIN2A_000158" "g.9862896C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9769039C>A" "" "pathogenic" "" "0000687534" "0" "90" "16" "9862895" "9862895" "del" "0" "00006" "GRIN2A_000157" "g.9862895del" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9769038del" "" "pathogenic" "" "0000687535" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex1-3 chr16:10,246,239–10,321,593×1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687536" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "{PMID:Lemke 2013:23933819}" "" "del ex12-14 chr16:9,850,397-9,908,508x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687537" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "{PMID:Lemke 2013:23933819}" "" "del ex1-3 chr16:10,243,256-19,279,848x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687538" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "{PMID:Lemke 2013:23933819}" "" "del ex4-14 chr16:9,825,755-10,069,792x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687539" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex1-3" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687540" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex4" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687541" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "{PMID:DeVries 2013:24125812}" "" "del ex4-14" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687542" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex1-3 chr16:10,241,998-10,300,800x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687543" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex1-3 chr16:10,241,998-10,300,800x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687544" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex1-3 chr16:10,227,326-10,300,839x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687545" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex4 chr16:10,000,670-10,197,654x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687546" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex4-5 chr16:9,976,657-10,162,335x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687547" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex1-13 chr16:9,857,004-10,032,413x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687548" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex4-6" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687549" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "dup ex3-4" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687550" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "dup ex4-5" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687551" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "t(16;17)(p13.2;q11.2)" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687552" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "t(16;17)(p13.2;q11.2)" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687590" "0" "90" "16" "10032131" "10032131" "subst" "0" "00006" "GRIN2A_000035" "g.10032131C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938274C>T" "" "pathogenic" "" "0000687591" "0" "90" "16" "10032131" "10032131" "subst" "0" "00006" "GRIN2A_000035" "g.10032131C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938274C>T" "" "pathogenic" "" "0000687592" "0" "90" "16" "10032131" "10032131" "subst" "0" "00006" "GRIN2A_000035" "g.10032131C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938274C>T" "" "pathogenic" "" "0000687593" "0" "90" "16" "9934563" "9934563" "subst" "0" "00006" "GRIN2A_000061" "g.9934563G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840706G>A" "" "pathogenic" "" "0000687594" "0" "90" "16" "9934563" "9934563" "subst" "0" "00006" "GRIN2A_000061" "g.9934563G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840706G>A" "" "pathogenic" "" "0000687595" "0" "90" "16" "9934563" "9934563" "subst" "0" "00006" "GRIN2A_000061" "g.9934563G>A" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840706G>A" "" "pathogenic" "" "0000687596" "0" "90" "16" "9934563" "9934563" "subst" "0" "00006" "GRIN2A_000061" "g.9934563G>A" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840706G>A" "" "pathogenic" "" "0000687597" "0" "90" "16" "9934563" "9934563" "subst" "0" "00006" "GRIN2A_000061" "g.9934563G>A" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840706G>A" "" "pathogenic" "" "0000687598" "0" "90" "16" "9916176" "9916176" "subst" "0" "00006" "GRIN2A_000166" "g.9916176T>C" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822319T>C" "" "pathogenic" "" "0000687599" "0" "90" "16" "9916176" "9916176" "subst" "0" "00006" "GRIN2A_000166" "g.9916176T>C" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822319T>C" "" "pathogenic" "" "0000687600" "0" "90" "16" "9916176" "9916176" "subst" "0" "00006" "GRIN2A_000166" "g.9916176T>C" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822319T>C" "" "pathogenic" "" "0000687601" "0" "90" "16" "9892299" "9892299" "subst" "0" "00006" "GRIN2A_000133" "g.9892299C>T" "" "{PMID:Dyment 2015:25046240}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9798442C>T" "" "pathogenic" "" "0000687602" "0" "90" "16" "9892164" "9892164" "subst" "0" "00006" "GRIN2A_000009" "g.9892164C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9798307C>A" "" "pathogenic" "" "0000687603" "0" "90" "16" "10274267" "10274267" "subst" "0" "00006" "GRIN2A_000205" "g.10274267A>G" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180410A>G" "" "pathogenic" "" "0000687604" "0" "90" "16" "10274267" "10274267" "subst" "0" "00006" "GRIN2A_000205" "g.10274267A>G" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180410A>G" "" "pathogenic" "" "0000687605" "0" "90" "16" "10274179" "10274179" "dup" "0" "00006" "GRIN2A_000204" "g.10274179dup" "" "{PMID:Lemke 2013:23933819}" "" "90dupT" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180322dup" "" "pathogenic" "" "0000687606" "0" "90" "16" "10274179" "10274179" "dup" "0" "00006" "GRIN2A_000204" "g.10274179dup" "" "{PMID:Lemke 2013:23933819}" "" "90dupT" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180322dup" "" "pathogenic" "" "0000687607" "0" "90" "16" "10274179" "10274179" "dup" "0" "00006" "GRIN2A_000204" "g.10274179dup" "" "{PMID:Lemke 2013:23933819}" "" "90dupT" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180322dup" "" "pathogenic" "" "0000687608" "0" "90" "16" "10274179" "10274179" "dup" "0" "00006" "GRIN2A_000204" "g.10274179dup" "" "{PMID:Lemke 2013:23933819}" "" "90dupT" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180322dup" "" "pathogenic" "" "0000687609" "0" "90" "16" "10274104" "10274104" "subst" "0" "00006" "GRIN2A_000203" "g.10274104C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.10180247C>T" "" "pathogenic" "" "0000687610" "0" "90" "16" "10032336" "10032336" "subst" "0" "00006" "GRIN2A_000199" "g.10032336G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938479G>A" "" "pathogenic" "" "0000687611" "0" "90" "16" "10032336" "10032336" "subst" "0" "00006" "GRIN2A_000199" "g.10032336G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938479G>A" "" "pathogenic" "" "0000687612" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687613" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687614" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687615" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687616" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687617" "0" "90" "16" "10032229" "10032229" "subst" "0" "00006" "GRIN2A_000197" "g.10032229C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9938372C>T" "" "pathogenic" "" "0000687618" "0" "90" "16" "10031822" "10031822" "subst" "0" "00006" "GRIN2A_000195" "g.10031822A>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937965A>T" "" "pathogenic" "" "0000687619" "0" "90" "16" "10031822" "10031822" "subst" "0" "00006" "GRIN2A_000195" "g.10031822A>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937965A>T" "" "pathogenic" "" "0000687620" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687621" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687622" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687623" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687624" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687625" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687626" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687627" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Carvill 2013:23933818}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687628" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687629" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687630" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687631" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687632" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687633" "0" "90" "16" "10031815" "10031815" "subst" "0" "00006" "GRIN2A_000033" "g.10031815C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9937958C>T" "" "pathogenic" "" "0000687634" "0" "90" "16" "9943819" "9943819" "subst" "0" "00006" "GRIN2A_000072" "g.9943819C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9849962C>A" "" "pathogenic" "" "0000687635" "0" "90" "16" "9934570" "9934570" "del" "0" "00006" "GRIN2A_000191" "g.9934570del" "" "{PMID:Lemke 2013:23933819}" "" "1585delG" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840713del" "" "pathogenic" "" "0000687636" "0" "90" "16" "9934570" "9934570" "del" "0" "00006" "GRIN2A_000191" "g.9934570del" "" "{PMID:Lemke 2013:23933819}" "" "1585delG" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840713del" "" "pathogenic" "" "0000687637" "0" "90" "16" "9934504" "9934504" "del" "0" "00006" "GRIN2A_000186" "g.9934504del" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9840647del" "" "pathogenic" "" "0000687638" "0" "90" "16" "9928055" "9928055" "del" "0" "00006" "GRIN2A_000185" "g.9928055del" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9834198del" "" "pathogenic" "" "0000687639" "0" "90" "16" "9928047" "9928047" "del" "0" "00006" "GRIN2A_000184" "g.9928047del" "" "" "" "1692delG" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9834190del" "" "pathogenic" "" "0000687640" "0" "90" "16" "9923279" "9923279" "subst" "0" "00006" "GRIN2A_000171" "g.9923279C>T" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9829422C>T" "" "pathogenic" "" "0000687641" "0" "90" "16" "9916248" "9916248" "subst" "0" "00006" "GRIN2A_000168" "g.9916248G>A" "" "{PMID:Lemke 2013:23933819}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822391G>A" "" "pathogenic" "" "0000687642" "0" "90" "16" "9916248" "9916248" "subst" "0" "00006" "GRIN2A_000168" "g.9916248G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822391G>A" "" "pathogenic" "" "0000687643" "0" "90" "16" "9916248" "9916248" "subst" "0" "00006" "GRIN2A_000168" "g.9916248G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822391G>A" "" "pathogenic" "" "0000687644" "0" "90" "16" "9916248" "9916248" "subst" "0" "00006" "GRIN2A_000168" "g.9916248G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822391G>A" "" "pathogenic" "" "0000687645" "0" "90" "16" "9892154" "9892158" "del" "0" "00006" "GRIN2A_000160" "g.9892154_9892158del" "" "{PMID:Lemke 2013:23933819}" "" "2334_2338delCTTGC" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9798297_9798301del" "" "pathogenic" "" "0000687646" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex4" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687647" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex4" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687648" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex6-11" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687649" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "{PMID:DeVries 2013:24125812}" "" "del ex4-14 16p13.2 292,09 kb" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687650" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "chr16:10,227,326-10,300,839x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687651" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "chr16:10,227,326-10,300,839x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687652" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "chr16:10,227,326-10,300,839x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687653" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex4-5 chr16:9,976,657-10,162,335x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687654" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex6-7" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687655" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex6-7" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687656" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "del ex6-7" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687657" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "t(16;17)(p13.2;q11.2), intron 3 - exon 6" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687658" "0" "90" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "" "" "t(16;17)(p13.2;q11.2), intron 3 - exon 6" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687669" "0" "90" "16" "9916282" "9916282" "subst" "0" "00006" "GRIN2A_000169" "g.9916282C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.9822425C>A" "" "pathogenic" "" "0000687706" "1" "90" "16" "9892244" "9892244" "subst" "0" "00006" "GRIN2A_000162" "g.9892244G>A" "" "{PMID:Yoo 2017:28856709}" "" "Thr749Ile" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.9798387G>A" "" "pathogenic" "" "0000692243" "0" "30" "16" "9858211" "9858211" "subst" "0.000540303" "02326" "GRIN2A_000016" "g.9858211T>C" "" "" "" "GRIN2A(NM_001134407.3):c.3190A>G (p.T1064A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692244" "0" "70" "16" "9862834" "9862834" "subst" "0" "02327" "GRIN2A_000206" "g.9862834C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692245" "0" "90" "16" "9943738" "9943738" "del" "0" "02325" "GRIN2A_000207" "g.9943738del" "" "" "" "GRIN2A(NM_000833.5):c.1204delG (p.D402Mfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000698185" "0" "70" "16" "9923362" "9923362" "subst" "0" "00006" "GRIN2A_000208" "g.9923362A>C" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.9829505A>C" "" "VUS" "" "0000725408" "0" "30" "16" "10032082" "10032082" "subst" "4.07034E-5" "02326" "GRIN2A_000210" "g.10032082G>A" "" "" "" "GRIN2A(NM_000833.5):c.741C>T (p.G247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725409" "0" "50" "16" "10032185" "10032185" "subst" "0" "02329" "GRIN2A_000112" "g.10032185G>A" "" "" "" "GRIN2A(NM_001134407.3):c.638C>T (p.A213V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726142" "0" "30" "16" "9857663" "9857663" "subst" "8.12724E-6" "02326" "GRIN2A_000209" "g.9857663A>G" "" "" "" "GRIN2A(NM_000833.5):c.3738T>C (p.Y1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726146" "0" "30" "16" "9892213" "9892213" "subst" "0.000191046" "01943" "GRIN2A_000087" "g.9892213G>A" "" "" "" "GRIN2A(NM_001134407.3):c.2277C>T (p.T759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726147" "0" "70" "16" "9892323" "9892323" "subst" "0" "02329" "GRIN2A_000115" "g.9892323T>A" "" "" "" "GRIN2A(NM_001134407.3):c.2169-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000786884" "0" "70" "16" "9858637" "9858637" "del" "0" "00006" "GRIN2A_000213" "g.9858637del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.9764780del" "" "likely pathogenic" "" "0000787291" "0" "50" "16" "10032218" "10032218" "subst" "0" "00006" "GRIN2A_000216" "g.10032218T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.9938361T>C" "" "VUS" "" "0000787292" "0" "50" "16" "9934939" "9934939" "subst" "0" "00006" "GRIN2A_000215" "g.9934939T>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.9841082T>A" "" "VUS" "" "0000787293" "0" "50" "16" "9934939" "9934939" "subst" "0" "00006" "GRIN2A_000215" "g.9934939T>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.9841082T>A" "" "VUS" "" "0000787294" "0" "50" "16" "9857311" "9857311" "subst" "0" "00006" "GRIN2A_000212" "g.9857311C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1245573153" "0" "" "" "g.9763454C>T" "" "VUS" "" "0000787295" "0" "50" "16" "9857262" "9857262" "subst" "0" "00006" "GRIN2A_000211" "g.9857262C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.9763405C>T" "" "VUS" "" "0000787471" "0" "50" "16" "9862821" "9862821" "subst" "0" "00000" "GRIN2A_000214" "g.9862821T>C" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.9768964T>C" "" "VUS" "" "0000807033" "0" "50" "16" "10032321" "10032321" "subst" "0" "02329" "GRIN2A_000219" "g.10032321G>T" "" "" "" "GRIN2A(NM_001134407.3):c.502C>A (p.H168N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807783" "0" "30" "16" "9857547" "9857547" "subst" "2.84403E-5" "02325" "GRIN2A_000217" "g.9857547C>T" "" "" "" "GRIN2A(NM_000833.5):c.3854G>A (p.R1285K), GRIN2A(NM_001134407.1):c.3854G>A (p.(Arg1285Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807784" "0" "50" "16" "9857784" "9857784" "subst" "2.84356E-5" "01943" "GRIN2A_000022" "g.9857784C>T" "" "" "" "GRIN2A(NM_001134407.3):c.3617G>A (p.R1206Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807785" "0" "50" "16" "9857925" "9857925" "subst" "3.25259E-5" "01943" "GRIN2A_000218" "g.9857925C>G" "" "" "" "GRIN2A(NM_001134407.3):c.3476G>C (p.R1159P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807786" "0" "90" "16" "9916143" "9916143" "subst" "4.06468E-6" "02327" "GRIN2A_000134" "g.9916143C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854739" "0" "50" "16" "9857503" "9857503" "subst" "8.95328E-5" "01943" "GRIN2A_000148" "g.9857503T>C" "" "" "" "GRIN2A(NM_000833.5):c.3898A>G (p.R1300G), GRIN2A(NM_001134407.3):c.3898A>G (p.R1300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854740" "0" "10" "16" "9934687" "9934690" "dup" "0" "02325" "GRIN2A_000220" "g.9934687_9934690dup" "" "" "" "GRIN2A(NM_001134407.3):c.1498-17_1498-14dupTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854741" "0" "10" "16" "9934689" "9934690" "del" "0" "02325" "GRIN2A_000065" "g.9934689_9934690del" "" "" "" "GRIN2A(NM_000833.5):c.1498-15_1498-14delTT, GRIN2A(NM_001134407.3):c.1498-15_1498-14delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864274" "0" "90" "16" "10032002" "10032002" "subst" "0" "02329" "GRIN2A_000222" "g.10032002G>T" "" "" "" "GRIN2A(NM_001134407.3):c.821C>A (p.S274*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865053" "0" "50" "16" "9934944" "9934944" "subst" "0" "02327" "GRIN2A_000221" "g.9934944C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892490" "0" "90" "16" "10274033" "10274033" "subst" "4.0712E-6" "02327" "GRIN2A_000037" "g.10274033G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893328" "0" "50" "16" "9858232" "9858232" "subst" "0" "02327" "GRIN2A_000223" "g.9858232C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893329" "0" "90" "16" "9862850" "9862850" "subst" "4.066E-6" "02326" "GRIN2A_000224" "g.9862850G>A" "" "" "" "GRIN2A(NM_000833.5):c.2453C>T (p.A818V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893330" "0" "50" "16" "9928076" "9928076" "subst" "0" "02327" "GRIN2A_000225" "g.9928076C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926389" "0" "50" "16" "9858275" "9858275" "subst" "8.12698E-6" "02329" "GRIN2A_000226" "g.9858275C>G" "" "" "" "GRIN2A(NM_001134407.3):c.3126G>C (p.(Arg1042Ser), p.R1042S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926390" "0" "70" "16" "9916205" "9916205" "subst" "0" "02327" "GRIN2A_000167" "g.9916205C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000933302" "21" "70" "16" "9862850" "9862850" "subst" "4.066E-6" "03288" "GRIN2A_000224" "g.9862850G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.9768993G>A" "" "likely pathogenic (dominant)" "ACMG" "0000933303" "10" "90" "16" "9923507" "9923507" "del" "0" "03288" "GRIN2A_000227" "g.9923507del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.9829650del" "" "pathogenic (dominant)" "ACMG" "0000946903" "21" "70" "16" "9858570" "9858570" "subst" "0" "00006" "GRIN2A_000228" "g.9858570G>A" "" "{PMID:Carter 2019:30790272}" "" "" "variant inherited from unaffected mother, therefore deemed clinically insignificant" "Germline" "no" "" "0" "" "" "g.9764713G>A" "" "VUS" "" "0000950790" "0" "50" "16" "9857058" "9857058" "subst" "2.033E-5" "02325" "GRIN2A_000229" "g.9857058C>T" "" "" "" "GRIN2A(NM_000833.5):c.4343G>A (p.C1448Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950791" "0" "70" "16" "9862777" "9862777" "subst" "0" "02329" "GRIN2A_000230" "g.9862777G>T" "" "" "" "GRIN2A(NM_001134407.3):c.2526C>A (p.Y842*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950792" "0" "50" "16" "9923467" "9923467" "subst" "0" "02325" "GRIN2A_000231" "g.9923467A>G" "" "" "" "GRIN2A(NM_000833.5):c.1820T>C (p.L607P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954122" "0" "50" "16" "9857311" "9857311" "subst" "0" "01164" "GRIN2A_000212" "g.9857311C>T" "" "" "" "" "ACMG: PM2_SUP, BP4" "Germline" "?" "" "0" "" "" "g.9763454C>T" "" "VUS" "ACMG" "0000981551" "0" "30" "16" "10004720" "10004720" "subst" "0" "01804" "GRIN2A_000236" "g.10004720T>G" "" "" "" "GRIN2A(NM_001134407.3):c.1008-19763A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981554" "0" "30" "16" "10234955" "10234955" "subst" "0" "01804" "GRIN2A_000237" "g.10234955G>T" "" "" "" "GRIN2A(NM_001134407.3):c.414+38900C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981555" "0" "50" "16" "10274123" "10274123" "subst" "0" "01804" "GRIN2A_000238" "g.10274123C>T" "" "" "" "GRIN2A(NM_001134407.3):c.146G>A (p.(Arg49His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982257" "0" "50" "16" "9857572" "9857572" "subst" "1.6252E-5" "02325" "GRIN2A_000234" "g.9857572G>A" "" "" "" "GRIN2A(NM_000833.5):c.3829C>T (p.L1277F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982258" "0" "30" "16" "9927823" "9927823" "subst" "0" "01804" "GRIN2A_000235" "g.9927823C>G" "" "" "" "GRIN2A(NM_001134407.3):c.1777+139G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001853" "0" "30" "16" "10274047" "10274047" "subst" "1.62974E-5" "01804" "GRIN2A_000038" "g.10274047C>T" "" "" "" "GRIN2A(NM_000833.5):c.222G>A (p.M74I), GRIN2A(NM_001134407.1):c.222G>A (p.(Met74Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002855" "0" "50" "16" "9857542" "9857542" "subst" "0" "02327" "GRIN2A_000239" "g.9857542T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002856" "0" "50" "16" "9857547" "9857547" "subst" "2.84403E-5" "02325" "GRIN2A_000240" "g.9857547C>A" "" "" "" "GRIN2A(NM_000833.5):c.3854G>T (p.R1285M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002857" "0" "30" "16" "9857547" "9857547" "subst" "2.84403E-5" "01804" "GRIN2A_000217" "g.9857547C>T" "" "" "" "GRIN2A(NM_000833.5):c.3854G>A (p.R1285K), GRIN2A(NM_001134407.1):c.3854G>A (p.(Arg1285Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002858" "0" "50" "16" "9857857" "9857857" "subst" "8.12757E-6" "01804" "GRIN2A_000098" "g.9857857C>T" "" "" "" "GRIN2A(NM_001134407.1):c.3544G>A (p.(Asp1182Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002859" "0" "30" "16" "9858298" "9858298" "subst" "3.65764E-5" "01804" "GRIN2A_000241" "g.9858298C>T" "" "" "" "GRIN2A(NM_001134407.1):c.3103G>A (p.(Asp1035Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002860" "0" "50" "16" "9862752" "9862752" "subst" "4.06881E-6" "01804" "GRIN2A_000026" "g.9862752C>G" "" "" "" "GRIN2A(NM_001134407.1):c.2551G>C (p.(Gly851Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002861" "0" "30" "16" "9934936" "9934936" "subst" "0.000215656" "01804" "GRIN2A_000242" "g.9934936C>T" "" "" "" "GRIN2A(NM_001134407.1):c.1354G>A (p.(Val452Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040737" "0" "30" "16" "10032276" "10032276" "subst" "4.07269E-5" "01804" "GRIN2A_000036" "g.10032276A>T" "" "" "" "GRIN2A(NM_001134407.3):c.547T>A (p.(Phe183Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040743" "0" "30" "16" "10133937" "10133938" "del" "0" "01804" "GRIN2A_000247" "g.10133937_10133938del" "" "" "" "GRIN2A(NM_001134407.3):c.415-101525_415-101524del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040744" "0" "30" "16" "10133938" "10133938" "subst" "0" "01804" "GRIN2A_000248" "g.10133938C>T" "" "" "" "GRIN2A(NM_001134407.3):c.415-101530G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041543" "0" "50" "16" "9858275" "9858275" "subst" "8.12698E-6" "01804" "GRIN2A_000226" "g.9858275C>G" "" "" "" "GRIN2A(NM_001134407.3):c.3126G>C (p.(Arg1042Ser), p.R1042S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041544" "0" "50" "16" "9923297" "9923297" "subst" "0" "01804" "GRIN2A_000243" "g.9923297C>T" "" "" "" "GRIN2A(NM_001134407.3):c.1990G>A (p.(Gly664Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041545" "0" "30" "16" "9923436" "9923436" "subst" "0" "01804" "GRIN2A_000244" "g.9923436C>G" "" "" "" "GRIN2A(NM_001134407.3):c.1851G>C (p.(Val617=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041546" "0" "50" "16" "9934623" "9934623" "subst" "0" "02327" "GRIN2A_000245" "g.9934623G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041547" "0" "30" "16" "9934662" "9934662" "subst" "0" "01804" "GRIN2A_000246" "g.9934662A>G" "" "" "" "GRIN2A(NM_001134407.3):c.1498-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049796" "11" "70" "16" "10273879" "10273879" "del" "0" "00006" "GRIN2A_000249" "g.10273879del" "" "{PMID:Wheeler 2025:41091956}" "" "" "" "Germline" "" "" "0" "" "" "g.10180022del" "" "likely pathogenic" "" "0001055436" "0" "50" "16" "9857172" "9857172" "subst" "0" "01804" "GRIN2A_000250" "g.9857172G>A" "" "" "" "GRIN2A(NM_001134407.3):c.4229C>T (p.(Ser1410Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055437" "0" "50" "16" "9857902" "9857902" "subst" "0" "01804" "GRIN2A_000251" "g.9857902T>C" "" "" "" "GRIN2A(NM_001134407.3):c.3499A>G (p.(Met1167Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055438" "0" "50" "16" "9858033" "9858033" "subst" "4.07034E-6" "01804" "GRIN2A_000252" "g.9858033T>G" "" "" "" "GRIN2A(NM_001134407.3):c.3368A>C (p.(Glu1123Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055439" "0" "50" "16" "9943758" "9943758" "subst" "0" "01804" "GRIN2A_000253" "g.9943758A>G" "" "" "" "GRIN2A(NM_001134407.3):c.1183T>C (p.(Ser395Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055440" "0" "50" "16" "10031825" "10031825" "subst" "8.1664E-6" "01804" "GRIN2A_000254" "g.10031825G>T" "" "" "" "GRIN2A(NM_001134407.3):c.998C>A (p.(Thr333Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055441" "0" "30" "16" "10031940" "10031940" "subst" "4.88655E-5" "01804" "GRIN2A_000141" "g.10031940C>T" "" "" "" "GRIN2A(NM_001134407.3):c.883G>A (p.(Gly295Ser))" "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 GRIN2A ## Count = 571 "{{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}}" "0000005562" "00001108" "50" "414" "67429" "414" "67429" "c.414+67429C>T" "r.(=)" "p.(=)" "" "0000005563" "00001108" "50" "414" "67203" "414" "67203" "c.414+67203C>T" "r.(=)" "p.(=)" "" "0000005564" "00001108" "50" "414" "67014" "414" "67014" "c.414+67014G>A" "r.(=)" "p.(=)" "" "0000005565" "00001108" "50" "414" "66968" "414" "66968" "c.414+66968T>C" "r.(=)" "p.(=)" "" "0000013523" "00001108" "50" "414" "67429" "414" "67429" "c.414+67429C>T" "r.(=)" "p.(=)" "" "0000013524" "00001108" "50" "414" "67203" "414" "67203" "c.414+67203C>T" "r.(=)" "p.(=)" "" "0000013525" "00001108" "50" "414" "66968" "414" "66968" "c.414+66968T>C" "r.(=)" "p.(=)" "" "0000036000" "00001108" "75" "2326" "0" "2326" "0" "c.2326G>T" "r.(?)" "p.(Asp776Tyr)" "11" "0000036003" "00001108" "55" "1757" "0" "1757" "0" "c.1757G>A" "r.(?)" "p.(Arg586Lys)" "9" "0000038003" "00001108" "30" "1007" "36" "1007" "36" "c.1007+36A>C" "r.(=)" "p.(=)" "4i" "0000038004" "00001108" "30" "1122" "51" "1122" "51" "c.1122+51A>G" "r.(=)" "p.(=)" "5i" "0000038005" "00001108" "30" "2008" "-24" "2008" "-23" "c.2008-24_2008-23dup" "r.(=)" "p.(=)" "10i" "0000038006" "00001108" "90" "652" "0" "652" "0" "c.652C>T" "r.0" "p.0" "4" "0000038007" "00001108" "70" "1845" "0" "1845" "0" "c.1845C>A" "r.(?)" "p.(Asn615Lys)" "10" "0000038008" "00001108" "10" "1275" "0" "1275" "0" "c.1275G>A" "r.1275g>a" "p.Leu425=" "6" "0000038009" "00001108" "30" "3190" "0" "3190" "0" "c.3190A>G" "r.(?)" "p.(Thr1064Ala)" "14" "0000038010" "00001108" "10" "3228" "0" "3228" "0" "c.3228C>G" "r.(?)" "p.(Asn1076Lys)" "14" "0000038011" "00001108" "10" "3228" "0" "3228" "0" "c.3228C>G" "r.(?)" "p.(Asn1076Lys)" "14" "0000118964" "00001108" "70" "1928" "0" "1928" "0" "c.1928C>A" "r.(?)" "p.(Ala643Asp)" "10" "0000188169" "00001108" "00" "3008" "0" "3008" "0" "c.3008A>G" "r.(?)" "p.(Glu1003Gly)" "" "0000188174" "00001108" "00" "1344" "0" "1345" "0" "c.1344_1345insCCTAG" "r.(?)" "p.(Gly449Profs*4)" "" "0000188184" "00001108" "00" "3617" "0" "3617" "0" "c.3617G>A" "r.(?)" "p.(Arg1206Gln)" "" "0000188250" "00001108" "00" "4370" "0" "4370" "0" "c.4370T>C" "r.(?)" "p.(Met1457Thr)" "" "0000188267" "00001108" "00" "2551" "0" "2551" "0" "c.2551G>C" "r.(?)" "p.(Gly851Arg)" "" "0000188276" "00001108" "00" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Met74Ile)" "" "0000188332" "00001108" "00" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Pro699Ser)" "" "0000188348" "00001108" "00" "1007" "1" "1007" "1" "c.1007+1G>A" "r.spl?" "p.?" "" "0000188350" "00001108" "00" "1007" "1" "1007" "1" "c.1007+1G>T" "r.spl?" "p.?" "" "0000188357" "00001108" "00" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Pro79Arg)" "" "0000188358" "00001108" "00" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Cys231Tyr)" "" "0000188367" "00001108" "00" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Ala727Thr)" "" "0000188376" "00001108" "00" "2441" "0" "2441" "0" "c.2441T>C" "r.(?)" "p.(Ile814Thr)" "" "0000188390" "00001108" "00" "1007" "1" "1007" "1" "c.1007+1G>A" "r.spl?" "p.?" "" "0000188398" "00001108" "00" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(Cys436Arg)" "" "0000188429" "00001108" "00" "1639" "0" "1641" "0" "c.1639_1641del" "r.(?)" "p.(Ser547del)" "" "0000188469" "00001108" "00" "3248" "0" "3248" "0" "c.3248A>G" "r.(?)" "p.(Lys1083Arg)" "" "0000188487" "00001108" "00" "3623" "0" "3623" "0" "c.3623G>C" "r.(?)" "p.(Arg1208Pro)" "" "0000188518" "00001108" "00" "2710" "0" "2710" "0" "c.2710A>T" "r.(?)" "p.(Ile904Phe)" "" "0000188535" "00001108" "00" "2200" "0" "2200" "0" "c.2200G>C" "r.(?)" "p.(Val734Leu)" "" "0000188540" "00001108" "00" "547" "0" "547" "0" "c.547T>A" "r.(?)" "p.(Phe183Ile)" "" "0000249220" "00001108" "10" "1498" "-14" "1498" "-14" "c.1498-14del" "r.(=)" "p.(=)" "" "0000249220" "00026022" "10" "1498" "-14" "1498" "-14" "c.1498-14del" "r.(=)" "p.(=)" "" "0000249782" "00001108" "50" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Met817Thr)" "" "0000249782" "00026022" "50" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Met817Thr)" "" "0000251597" "00001108" "10" "1498" "-14" "1498" "-14" "c.1498-14del" "r.(=)" "p.(=)" "" "0000251597" "00026022" "10" "1498" "-14" "1498" "-14" "c.1498-14del" "r.(=)" "p.(=)" "" "0000251809" "00001108" "30" "3378" "0" "3378" "0" "c.3378T>C" "r.(?)" "p.(Pro1126=)" "" "0000251809" "00026022" "30" "3378" "0" "3378" "0" "c.3378T>C" "r.(?)" "p.(Pro1126=)" "" "0000252285" "00001108" "30" "2357" "-164" "2357" "-164" "c.2357-164T>C" "r.(=)" "p.(=)" "" "0000252285" "00026022" "30" "2357" "-164" "2357" "-164" "c.2357-164T>C" "r.(=)" "p.(=)" "" "0000252286" "00001108" "30" "1652" "-13" "1652" "-13" "c.1652-13T>C" "r.(=)" "p.(=)" "" "0000252286" "00026022" "30" "1652" "-13" "1652" "-13" "c.1652-13T>C" "r.(=)" "p.(=)" "" "0000252287" "00001108" "30" "1329" "-9" "1329" "-9" "c.1329-9T>G" "r.(=)" "p.(=)" "" "0000252287" "00026022" "30" "1329" "-9" "1329" "-9" "c.1329-9T>G" "r.(=)" "p.(=)" "" "0000252288" "00001108" "30" "1122" "133" "1122" "133" "c.1122+133T>C" "r.(=)" "p.(=)" "" "0000252288" "00026022" "30" "1122" "133" "1122" "133" "c.1122+133T>C" "r.(=)" "p.(=)" "" "0000256212" "00001108" "50" "3578" "0" "3578" "0" "c.3578T>G" "r.(?)" "p.(Leu1193Trp)" "" "0000256212" "00026022" "50" "3578" "0" "3578" "0" "c.3578T>G" "r.(?)" "p.(Leu1193Trp)" "" "0000281150" "00001108" "90" "1123" "-1" "1123" "-1" "c.1123-1G>T" "r.spl?" "p.?" "" "0000281150" "00026022" "90" "1123" "-1" "1123" "-1" "c.1123-1G>T" "r.spl?" "p.?" "" "0000281152" "00001108" "30" "2883" "0" "2883" "0" "c.2883C>T" "r.(?)" "p.(Asn961=)" "" "0000281152" "00026022" "30" "2883" "0" "2883" "0" "c.2883C>T" "r.(?)" "p.(Asn961=)" "" "0000281153" "00001108" "30" "3787" "0" "3787" "0" "c.3787G>A" "r.(?)" "p.(Gly1263Arg)" "" "0000281153" "00026022" "30" "3787" "0" "3787" "0" "c.3787G>A" "r.(?)" "p.(Gly1263Arg)" "" "0000281154" "00001108" "30" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Met)" "" "0000281154" "00026022" "30" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Met)" "" "0000281155" "00001108" "30" "4307" "0" "4307" "0" "c.4307A>G" "r.(?)" "p.(Asn1436Ser)" "" "0000281155" "00026022" "30" "4307" "0" "4307" "0" "c.4307A>G" "r.(?)" "p.(Asn1436Ser)" "" "0000281156" "00001108" "30" "91" "0" "91" "0" "c.91C>A" "r.(?)" "p.(Pro31Thr)" "" "0000281156" "00026022" "30" "91" "0" "91" "0" "c.91C>A" "r.(?)" "p.(Pro31Thr)" "" "0000283384" "00001108" "90" "2211" "0" "2211" "0" "c.2211C>A" "r.(?)" "p.(Tyr737Ter)" "" "0000283384" "00026022" "90" "2211" "0" "2211" "0" "c.2211C>A" "r.(?)" "p.(Tyr737Ter)" "" "0000284984" "00001108" "30" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Pro336Ser)" "" "0000284984" "00026022" "30" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Pro336Ser)" "" "0000284985" "00001108" "30" "1008" "-16" "1008" "-16" "c.1008-16C>G" "r.(=)" "p.(=)" "" "0000284985" "00026022" "30" "1008" "-16" "1008" "-16" "c.1008-16C>G" "r.(=)" "p.(=)" "" "0000284986" "00001108" "10" "1328" "142" "1328" "142" "c.1328+142A>T" "r.(=)" "p.(=)" "" "0000284986" "00026022" "10" "1328" "142" "1328" "142" "c.1328+142A>T" "r.(=)" "p.(=)" "" "0000284987" "00001108" "30" "1329" "-81" "1329" "-81" "c.1329-81A>T" "r.(=)" "p.(=)" "" "0000284987" "00026022" "30" "1329" "-81" "1329" "-81" "c.1329-81A>T" "r.(=)" "p.(=)" "" "0000284988" "00001108" "30" "1329" "-8" "1329" "-8" "c.1329-8C>T" "r.(=)" "p.(=)" "" "0000284988" "00026022" "30" "1329" "-8" "1329" "-8" "c.1329-8C>T" "r.(=)" "p.(=)" "" "0000284989" "00001108" "30" "1498" "-15" "1498" "-14" "c.1498-15_1498-14del" "r.(=)" "p.(=)" "" "0000284989" "00026022" "30" "1498" "-15" "1498" "-14" "c.1498-15_1498-14del" "r.(=)" "p.(=)" "" "0000284990" "00001108" "10" "1498" "-34" "1498" "-34" "c.1498-34C>T" "r.(=)" "p.(=)" "" "0000284990" "00026022" "10" "1498" "-34" "1498" "-34" "c.1498-34C>T" "r.(=)" "p.(=)" "" "0000284991" "00001108" "30" "1533" "0" "1533" "0" "c.1533G>A" "r.(?)" "p.(Ser511=)" "" "0000284991" "00026022" "30" "1533" "0" "1533" "0" "c.1533G>A" "r.(?)" "p.(Ser511=)" "" "0000284992" "00001108" "90" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" "" "0000284992" "00026022" "90" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" "" "0000284993" "00001108" "10" "1652" "-79" "1652" "-79" "c.1652-79A>G" "r.(=)" "p.(=)" "" "0000284993" "00026022" "10" "1652" "-79" "1652" "-79" "c.1652-79A>G" "r.(=)" "p.(=)" "" "0000284994" "00001108" "30" "2007" "14" "2007" "14" "c.2007+14G>C" "r.(=)" "p.(=)" "" "0000284994" "00026022" "30" "2007" "14" "2007" "14" "c.2007+14G>C" "r.(=)" "p.(=)" "" "0000284996" "00001108" "10" "2008" "-36" "2008" "-36" "c.2008-36C>T" "r.(=)" "p.(=)" "" "0000284996" "00026022" "10" "2008" "-36" "2008" "-36" "c.2008-36C>T" "r.(=)" "p.(=)" "" "0000284997" "00001108" "30" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Tyr730=)" "" "0000284997" "00026022" "30" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Tyr730=)" "" "0000284998" "00001108" "30" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Met74Ile)" "" "0000284998" "00026022" "30" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Met74Ile)" "" "0000284999" "00001108" "30" "2883" "0" "2883" "0" "c.2883C>T" "r.(?)" "p.(Asn961=)" "" "0000284999" "00026022" "30" "2883" "0" "2883" "0" "c.2883C>T" "r.(?)" "p.(Asn961=)" "" "0000285000" "00001108" "10" "2899" "0" "2899" "0" "c.2899G>C" "r.(?)" "p.(Val967Leu)" "" "0000285000" "00026022" "10" "2899" "0" "2899" "0" "c.2899G>C" "r.(?)" "p.(Val967Leu)" "" "0000285001" "00001108" "30" "3228" "0" "3228" "0" "c.3228C>A" "r.(?)" "p.(Asn1076Lys)" "" "0000285001" "00026022" "30" "3228" "0" "3228" "0" "c.3228C>A" "r.(?)" "p.(Asn1076Lys)" "" "0000285002" "00001108" "30" "414" "115" "414" "115" "c.414+115G>A" "r.(=)" "p.(=)" "" "0000285002" "00026022" "30" "414" "115" "414" "115" "c.414+115G>A" "r.(=)" "p.(=)" "" "0000285003" "00001108" "90" "415" "-2" "415" "-2" "c.415-2A>G" "r.spl?" "p.?" "" "0000285003" "00026022" "90" "415" "-2" "415" "-2" "c.415-2A>G" "r.spl?" "p.?" "" "0000285004" "00001108" "30" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Met)" "" "0000285004" "00026022" "30" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Met)" "" "0000285005" "00001108" "30" "4307" "0" "4307" "0" "c.4307A>G" "r.(?)" "p.(Asn1436Ser)" "" "0000285005" "00026022" "30" "4307" "0" "4307" "0" "c.4307A>G" "r.(?)" "p.(Asn1436Ser)" "" "0000285006" "00001108" "30" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Asp166Glu)" "" "0000285006" "00026022" "30" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Asp166Glu)" "" "0000288772" "00001108" "50" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Val639Ile)" "" "0000288772" "00026022" "50" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Val639Ile)" "" "0000288773" "00001108" "30" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Tyr730=)" "" "0000288773" "00026022" "30" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Tyr730=)" "" "0000288774" "00001108" "30" "3190" "0" "3190" "0" "c.3190A>G" "r.(?)" "p.(Thr1064Ala)" "" "0000288774" "00026022" "30" "3190" "0" "3190" "0" "c.3190A>G" "r.(?)" "p.(Thr1064Ala)" "" "0000288775" "00001108" "50" "4205" "0" "4205" "0" "c.4205G>C" "r.(?)" "p.(Arg1402Pro)" "" "0000288775" "00026022" "50" "4205" "0" "4205" "0" "c.4205G>C" "r.(?)" "p.(Arg1402Pro)" "" "0000288776" "00001108" "30" "4307" "0" "4307" "0" "c.4307A>G" "r.(?)" "p.(Asn1436Ser)" "" "0000288776" "00026022" "30" "4307" "0" "4307" "0" "c.4307A>G" "r.(?)" "p.(Asn1436Ser)" "" "0000288777" "00001108" "30" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Lys221Arg)" "" "0000288777" "00026022" "30" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Lys221Arg)" "" "0000324587" "00001108" "30" "4185" "0" "4185" "0" "c.4185G>A" "r.(?)" "p.(Ala1395=)" "" "0000324587" "00026022" "30" "4185" "0" "4185" "0" "c.4185G>A" "r.(?)" "p.(Ala1395=)" "" "0000324589" "00001108" "30" "2894" "0" "2894" "0" "c.2894C>T" "r.(?)" "p.(Thr965Ile)" "" "0000324589" "00026022" "30" "2894" "0" "2894" "0" "c.2894C>T" "r.(?)" "p.(Thr965Ile)" "" "0000324590" "00001108" "50" "1834" "0" "1834" "0" "c.1834G>T" "r.(?)" "p.(Val612Leu)" "" "0000324590" "00026022" "50" "1834" "0" "1834" "0" "c.1834G>T" "r.(?)" "p.(Val612Leu)" "" "0000340598" "00001108" "10" "2085" "0" "2085" "0" "c.2085G>C" "r.(?)" "p.(Arg695=)" "" "0000340598" "00026022" "10" "2085" "0" "2085" "0" "c.2085G>C" "r.(?)" "p.(Arg695=)" "" "0000340601" "00001108" "10" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Leu425=)" "" "0000340601" "00026022" "10" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Leu425=)" "" "0000341025" "00001108" "30" "2277" "0" "2277" "0" "c.2277C>T" "r.(?)" "p.(Thr759=)" "" "0000341025" "00026022" "30" "2277" "0" "2277" "0" "c.2277C>T" "r.(?)" "p.(Thr759=)" "" "0000341937" "00001108" "50" "4355" "0" "4355" "0" "c.4355G>A" "r.(?)" "p.(Arg1452His)" "" "0000341937" "00026022" "50" "4355" "0" "4355" "0" "c.4355G>A" "r.(?)" "p.(Arg1452His)" "" "0000343950" "00001108" "50" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Asp166Glu)" "" "0000343950" "00026022" "50" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Asp166Glu)" "" "0000346261" "00001108" "50" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Gly753Arg)" "" "0000346261" "00026022" "50" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Gly753Arg)" "" "0000346360" "00001108" "50" "3386" "0" "3386" "0" "c.3386A>G" "r.(?)" "p.(His1129Arg)" "" "0000346360" "00026022" "50" "3386" "0" "3386" "0" "c.3386A>G" "r.(?)" "p.(His1129Arg)" "" "0000346819" "00001108" "50" "2627" "0" "2627" "0" "c.2627T>C" "r.(?)" "p.(Ile876Thr)" "" "0000346819" "00026022" "50" "2627" "0" "2627" "0" "c.2627T>C" "r.(?)" "p.(Ile876Thr)" "" "0000347878" "00001108" "70" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Met653Ile)" "" "0000347878" "00026022" "70" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Met653Ile)" "" "0000347905" "00001108" "70" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Met817Thr)" "" "0000347905" "00026022" "70" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Met817Thr)" "" "0000347912" "00001108" "50" "2794" "0" "2794" "0" "c.2794A>G" "r.(?)" "p.(Met932Val)" "" "0000347912" "00026022" "50" "2794" "0" "2794" "0" "c.2794A>G" "r.(?)" "p.(Met932Val)" "" "0000348502" "00001108" "90" "1655" "0" "1655" "0" "c.1655C>G" "r.(?)" "p.(Pro552Arg)" "" "0000348502" "00026022" "90" "1655" "0" "1655" "0" "c.1655C>G" "r.(?)" "p.(Pro552Arg)" "" "0000349358" "00001108" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Thr208Ile)" "" "0000349358" "00026022" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Thr208Ile)" "" "0000350226" "00001108" "50" "2998" "0" "2998" "0" "c.2998G>A" "r.(?)" "p.(Val1000Met)" "" "0000350226" "00026022" "50" "2998" "0" "2998" "0" "c.2998G>A" "r.(?)" "p.(Val1000Met)" "" "0000350697" "00001108" "10" "2899" "0" "2899" "0" "c.2899G>C" "r.(?)" "p.(Val967Leu)" "" "0000350697" "00026022" "10" "2899" "0" "2899" "0" "c.2899G>C" "r.(?)" "p.(Val967Leu)" "" "0000351474" "00001108" "10" "3228" "0" "3228" "0" "c.3228C>A" "r.(?)" "p.(Asn1076Lys)" "" "0000351474" "00026022" "10" "3228" "0" "3228" "0" "c.3228C>A" "r.(?)" "p.(Asn1076Lys)" "" "0000407957" "00001108" "00" "1945" "0" "1945" "0" "c.1945C>G" "r.(?)" "p.(Leu649Val)" "" "0000407959" "00001108" "00" "1655" "0" "1655" "0" "c.1655C>G" "r.(?)" "p.(Pro552Arg)" "" "0000439033" "00001108" "50" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.Glu235Lys" "" "0000441249" "00001108" "90" "2050" "0" "2050" "0" "c.2050A>G" "r.(?)" "p.(Thr684Ala)" "" "0000556394" "00001108" "90" "843" "0" "843" "0" "c.843C>G" "r.(?)" "p.(Tyr281Ter)" "" "0000556394" "00026022" "90" "843" "0" "843" "0" "c.843C>G" "r.(?)" "p.(Tyr281Ter)" "" "0000556395" "00001108" "30" "819" "0" "819" "0" "c.819A>G" "r.(?)" "p.(Pro273=)" "" "0000556395" "00026022" "30" "819" "0" "819" "0" "c.819A>G" "r.(?)" "p.(Pro273=)" "" "0000556396" "00001108" "30" "819" "0" "819" "0" "c.819A>G" "r.(?)" "p.(Pro273=)" "" "0000556396" "00026022" "30" "819" "0" "819" "0" "c.819A>G" "r.(?)" "p.(Pro273=)" "" "0000556398" "00001108" "30" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Met)" "" "0000556398" "00026022" "30" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Met)" "" "0000556469" "00001108" "50" "361" "0" "361" "0" "c.361T>C" "r.(?)" "p.(Phe121Leu)" "" "0000556469" "00026022" "50" "361" "0" "361" "0" "c.361T>C" "r.(?)" "p.(Phe121Leu)" "" "0000560139" "00001108" "70" "4018" "0" "4018" "0" "c.4018A>T" "r.(?)" "p.(Lys1340Ter)" "" "0000560139" "00026022" "70" "4018" "0" "4018" "0" "c.4018A>T" "r.(?)" "p.(Lys1340Ter)" "" "0000560140" "00001108" "50" "3827" "0" "3827" "0" "c.3827C>G" "r.(?)" "p.(Ala1276Gly)" "" "0000560140" "00026022" "50" "3827" "0" "3827" "0" "c.3827C>G" "r.(?)" "p.(Ala1276Gly)" "" "0000560141" "00001108" "30" "3827" "0" "3827" "0" "c.3827C>G" "r.(?)" "p.(Ala1276Gly)" "" "0000560141" "00026022" "30" "3827" "0" "3827" "0" "c.3827C>G" "r.(?)" "p.(Ala1276Gly)" "" "0000560142" "00001108" "50" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Asp1182Asn)" "" "0000560142" "00026022" "50" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Asp1182Asn)" "" "0000560143" "00001108" "50" "3536" "0" "3536" "0" "c.3536C>T" "r.(?)" "p.(Ser1179Phe)" "" "0000560143" "00026022" "50" "3536" "0" "3536" "0" "c.3536C>T" "r.(?)" "p.(Ser1179Phe)" "" "0000560144" "00001108" "50" "3479" "0" "3479" "0" "c.3479A>G" "r.(?)" "p.(Lys1160Arg)" "" "0000560144" "00026022" "50" "3479" "0" "3479" "0" "c.3479A>G" "r.(?)" "p.(Lys1160Arg)" "" "0000560145" "00001108" "50" "2966" "0" "2966" "0" "c.2966A>G" "r.(?)" "p.(Asn989Ser)" "" "0000560145" "00026022" "50" "2966" "0" "2966" "0" "c.2966A>G" "r.(?)" "p.(Asn989Ser)" "" "0000560146" "00001108" "90" "2456" "0" "2456" "0" "c.2456G>C" "r.(?)" "p.(Gly819Ala)" "" "0000560146" "00026022" "90" "2456" "0" "2456" "0" "c.2456G>C" "r.(?)" "p.(Gly819Ala)" "" "0000560147" "00001108" "30" "2356" "138" "2356" "138" "c.2356+138A>G" "r.(=)" "p.(=)" "" "0000560147" "00026022" "30" "2356" "138" "2356" "138" "c.2356+138A>G" "r.(=)" "p.(=)" "" "0000560148" "00001108" "30" "2356" "115" "2356" "115" "c.2356+115T>C" "r.(=)" "p.(=)" "" "0000560148" "00026022" "30" "2356" "115" "2356" "115" "c.2356+115T>C" "r.(=)" "p.(=)" "" "0000560149" "00001108" "70" "2278" "0" "2278" "0" "c.2278G>A" "r.(?)" "p.(Gly760Ser)" "" "0000560149" "00026022" "70" "2278" "0" "2278" "0" "c.2278G>A" "r.(?)" "p.(Gly760Ser)" "" "0000560150" "00001108" "30" "2169" "-19" "2169" "-19" "c.2169-19T>C" "r.(=)" "p.(=)" "" "0000560150" "00026022" "30" "2169" "-19" "2169" "-19" "c.2169-19T>C" "r.(=)" "p.(=)" "" "0000560151" "00001108" "30" "2169" "-41" "2169" "-41" "c.2169-41C>T" "r.(=)" "p.(=)" "" "0000560151" "00026022" "30" "2169" "-41" "2169" "-41" "c.2169-41C>T" "r.(=)" "p.(=)" "" "0000560152" "00001108" "30" "2008" "-24" "2008" "-23" "c.2008-24_2008-23dup" "r.(=)" "p.(=)" "" "0000560152" "00026022" "30" "2008" "-24" "2008" "-23" "c.2008-24_2008-23dup" "r.(=)" "p.(=)" "" "0000560153" "00001108" "10" "1498" "-15" "1498" "-14" "c.1498-15_1498-14dup" "r.(=)" "p.(=)" "" "0000560153" "00026022" "10" "1498" "-15" "1498" "-14" "c.1498-15_1498-14dup" "r.(=)" "p.(=)" "" "0000560154" "00001108" "10" "1122" "84" "1122" "84" "c.1122+84G>A" "r.(=)" "p.(=)" "" "0000560154" "00026022" "10" "1122" "84" "1122" "84" "c.1122+84G>A" "r.(=)" "p.(=)" "" "0000616320" "00001108" "30" "3535" "0" "3535" "0" "c.3535T>G" "r.(?)" "p.(Ser1179Ala)" "" "0000616320" "00026022" "30" "3535" "0" "3535" "0" "c.3535T>G" "r.(?)" "p.(Ser1179Ala)" "" "0000616322" "00001108" "70" "1945" "0" "1945" "0" "c.1945C>G" "r.(?)" "p.(Leu649Val)" "" "0000616322" "00026022" "70" "1945" "0" "1945" "0" "c.1945C>G" "r.(?)" "p.(Leu649Val)" "" "0000616323" "00001108" "90" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Arg504Trp)" "" "0000616323" "00026022" "90" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Arg504Trp)" "" "0000616324" "00001108" "70" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "0000616324" "00026022" "70" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "0000623348" "00001108" "30" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(Pro314=)" "" "0000623348" "00026022" "30" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(Pro314=)" "" "0000623349" "00001108" "10" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ile313=)" "" "0000623349" "00026022" "10" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ile313=)" "" "0000623350" "00001108" "30" "810" "0" "810" "0" "c.810A>G" "r.(?)" "p.(Lys270=)" "" "0000623350" "00026022" "30" "810" "0" "810" "0" "c.810A>G" "r.(?)" "p.(Lys270=)" "" "0000623606" "00001108" "50" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Val573Ile)" "" "0000623606" "00026022" "50" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Val573Ile)" "" "0000623607" "00001108" "30" "1206" "0" "1206" "0" "c.1206T>C" "r.(?)" "p.(Asp402=)" "" "0000623607" "00026022" "30" "1206" "0" "1206" "0" "c.1206T>C" "r.(?)" "p.(Asp402=)" "" "0000631920" "00001108" "90" "2660" "0" "2660" "0" "c.2660del" "r.(?)" "p.(Leu887Argfs*9)" "" "0000649465" "00001108" "30" "7319" "0" "7319" "0" "c.*2924A>C" "r.(=)" "p.(=)" "" "0000649466" "00001108" "30" "3228" "0" "3228" "0" "c.3228C>A" "r.(?)" "p.(Asn1076Lys)" "" "0000649467" "00001108" "50" "2627" "0" "2627" "0" "c.2627T>C" "r.(?)" "p.(Ile876Thr)" "" "0000658029" "00001108" "50" "3664" "0" "3664" "0" "c.3664C>G" "r.(?)" "p.(Pro1222Ala)" "" "0000658029" "00026022" "50" "3664" "0" "3664" "0" "c.3664C>G" "r.(?)" "p.(Pro1222Ala)" "" "0000660609" "00001108" "90" "1123" "-2" "1123" "-2" "c.1123-2A>G" "r.1123_1328del" "p.Val375Glnfs*5" "" "0000660610" "00001108" "90" "-45292" "0" "414" "27616" "c.(-45292_-78561)_(414+27616_414+46734)del" "r.0?" "p.0?" "" "0000660611" "00001108" "90" "2168" "306" "2168" "365" "c.(1460_2168+306)_(2168+365_2168+7644)del" "r.?" "p.?" "" "0000660612" "00001108" "90" "4161" "0" "4161" "0" "c.4161C>A" "r.(?)" "p.(Tyr1387*)" "" "0000660613" "00001108" "90" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Arg504Trp)" "" "0000660614" "00001108" "90" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Gly483Arg)" "" "0000660615" "00001108" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "" "0000660616" "00001108" "90" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Asp731Asn)" "" "0000660617" "00001108" "90" "3751" "0" "3751" "0" "c.3751G>A" "r.(?)" "p.(Asp1251Asn)" "" "0000660618" "00001108" "90" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Ala716Thr)" "" "0000660619" "00001108" "90" "2797" "0" "2797" "0" "c.2797G>A" "r.(?)" "p.(Asp933Asn)" "" "0000660620" "00001108" "90" "551" "0" "551" "0" "c.551T>G" "r.(?)" "p.(Ile184Ser)" "" "0000660621" "00001108" "90" "2081" "0" "2081" "0" "c.2081T>C" "r.(?)" "p.(Ile694Thr)" "" "0000660622" "00001108" "90" "1954" "0" "1954" "0" "c.1954T>G" "r.(?)" "p.(Phe652Val)" "" "0000660623" "00001108" "90" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Ala548Thr)" "" "0000660624" "00001108" "90" "2007" "0" "2007" "0" "c.2007G>T" "r.(?)" "p.(Lys669Asn)" "" "0000660625" "00001108" "90" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Gly295Ser)" "" "0000660626" "00001108" "70" "3827" "0" "3827" "0" "c.3827C>G" "r.(?)" "p.(Ala1276Gly)" "" "0000665616" "00001108" "50" "2796" "0" "2796" "0" "c.2796G>C" "r.(?)" "p.Met932Ile" "" "0000665622" "00001108" "50" "2692" "0" "2692" "0" "c.2692C>T" "r.(?)" "p.(Leu898Phe)" "" "0000665623" "00001108" "50" "1795" "0" "1795" "0" "c.1795T>C" "r.(?)" "p.(Phe599Leu)" "" "0000673673" "00001108" "50" "2736" "0" "2738" "0" "c.2736_2738del" "r.(?)" "p.(Ser913del)" "" "0000675198" "00001108" "70" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Gln111*)" "" "0000675216" "00001108" "70" "4123" "0" "4123" "0" "c.4123C>T" "r.(?)" "p.(Gln1375*)" "" "0000680768" "00001108" "30" "3898" "0" "3898" "0" "c.3898A>G" "r.(?)" "p.(Arg1300Gly)" "" "0000680768" "00026022" "30" "3898" "0" "3898" "0" "c.3898A>G" "r.(?)" "p.(Arg1300Gly)" "" "0000680769" "00001108" "90" "2944" "0" "2944" "0" "c.2944G>T" "r.(?)" "p.(Gly982Ter)" "" "0000680769" "00026022" "90" "2944" "0" "2944" "0" "c.2944G>T" "r.(?)" "p.(Gly982Ter)" "" "0000683370" "00001108" "70" "2927" "0" "2927" "0" "c.2927A>G" "r.(?)" "p.(Asn976Ser)" "" "0000687440" "00001108" "90" "1232" "0" "1232" "0" "c.1232T>A" "r.(?)" "p.(Leu411Gln)" "" "0000687441" "00001108" "90" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(Cys436Arg)" "" "0000687442" "00001108" "90" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Gly498Ser)" "" "0000687443" "00001108" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Cys)" "" "0000687444" "00001108" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Cys)" "" "0000687445" "00001108" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "" "0000687446" "00001108" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "" "0000687447" "00001108" "90" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" "" "0000687448" "00001108" "90" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" "" "0000687449" "00001108" "90" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "" "0000687450" "00001108" "90" "1642" "0" "1642" "0" "c.1642G>C" "r.(?)" "p.(Ala548Pro)" "" "0000687451" "00001108" "90" "1655" "0" "1655" "0" "c.1655C>G" "r.(?)" "p.(Pro552Arg)" "" "0000687452" "00001108" "90" "1832" "0" "1832" "0" "c.1832T>A" "r.(?)" "p.(Leu611Gln)" "" "0000687453" "00001108" "90" "1841" "0" "1841" "0" "c.1841A>G" "r.(?)" "p.(Asn614Ser)" "" "0000687454" "00001108" "90" "1841" "0" "1841" "0" "c.1841A>G" "r.(?)" "p.(Asn614Ser)" "" "0000687455" "00001108" "90" "1841" "0" "1841" "0" "c.1841A>G" "r.(?)" "p.(Asn614Ser)" "" "0000687456" "00001108" "90" "1841" "0" "1841" "0" "c.1841A>G" "r.(?)" "p.(Asn614Ser)" "" "0000687457" "00001108" "90" "1845" "0" "1845" "0" "c.1845C>A" "r.(?)" "p.(Asn615Lys)" "" "0000687458" "00001108" "90" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Ala635Thr)" "" "0000687459" "00001108" "90" "1930" "0" "1930" "0" "c.1930A>G" "r.(?)" "p.(Ser644Gly)" "" "0000687460" "00001108" "90" "1936" "0" "1936" "0" "c.1936A>G" "r.(?)" "p.(Thr646Ala)" "" "0000687461" "00001108" "90" "1936" "0" "1936" "0" "c.1936A>G" "r.(?)" "p.(Thr646Ala)" "" "0000687462" "00001108" "90" "1943" "0" "1943" "0" "c.1943A>G" "r.(?)" "p.(Asn648Ser)" "" "0000687463" "00001108" "90" "1943" "0" "1943" "0" "c.1943A>G" "r.(?)" "p.(Asn648Ser)" "" "0000687464" "00001108" "90" "1943" "0" "1943" "0" "c.1943A>G" "r.(?)" "p.(Asn648Ser)" "" "0000687465" "00001108" "90" "1945" "0" "1945" "0" "c.1945C>G" "r.(?)" "p.(Leu649Val)" "" "0000687466" "00001108" "90" "1946" "0" "1947" "0" "c.1946_1947delinsCT" "r.(?)" "p.(Leu649Pro)" "" "0000687467" "00001108" "90" "1957" "0" "1957" "0" "c.1957A>G" "r.(?)" "p.(Met653Val)" "" "0000687468" "00001108" "90" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Met653Ile)" "" "0000687469" "00001108" "90" "1961" "0" "1961" "0" "c.1961T>C" "r.(?)" "p.(Ile654Thr)" "" "0000687470" "00001108" "90" "2050" "0" "2050" "0" "c.2050A>G" "r.(?)" "p.(Thr684Ala)" "" "0000687471" "00001108" "90" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695Gln)" "" "0000687472" "00001108" "90" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695Gln)" "" "0000687473" "00001108" "90" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Pro699Ser)" "" "0000687474" "00001108" "90" "2138" "0" "2138" "0" "c.2138T>G" "r.(?)" "p.(Val713Gly)" "" "0000687475" "00001108" "90" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Ala716Thr)" "" "0000687476" "00001108" "90" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Ala716Thr)" "" "0000687477" "00001108" "90" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Asp731Asn)" "" "0000687478" "00001108" "90" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Asp731Asn)" "" "0000687479" "00001108" "90" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Asp731Asn)" "" "0000687480" "00001108" "90" "2197" "0" "2197" "0" "c.2197G>A" "r.(?)" "p.(Ala733Thr)" "" "0000687481" "00001108" "90" "2326" "0" "2326" "0" "c.2326G>T" "r.(?)" "p.(Asp776Tyr)" "" "0000687482" "00001108" "90" "2326" "0" "2326" "0" "c.2326G>T" "r.(?)" "p.(Asp776Tyr)" "" "0000687483" "00001108" "90" "2427" "0" "2427" "0" "c.2427C>A" "r.(?)" "p.(Ser809Arg)" "" "0000687484" "00001108" "90" "2434" "0" "2434" "0" "c.2434C>A" "r.(?)" "p.(Leu812Met)" "" "0000687485" "00001108" "90" "2449" "0" "2449" "0" "c.2449A>G" "r.(?)" "p.(Met817Val)" "" "0000687486" "00001108" "90" "2449" "0" "2449" "0" "c.2449A>G" "r.(?)" "p.(Met817Val)" "" "0000687487" "00001108" "90" "2449" "0" "2449" "0" "c.2449A>G" "r.(?)" "p.(Met817Val)" "" "0000687488" "00001108" "90" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Met817Thr)" "" "0000687489" "00001108" "90" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Met817Thr)" "" "0000687490" "00001108" "90" "2450" "0" "2450" "0" "c.2450T>G" "r.(?)" "p.(Met817Arg)" "" "0000687491" "00001108" "90" "2453" "0" "2453" "0" "c.2453C>A" "r.(?)" "p.(Ala818Glu)" "" "0000687492" "00001108" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000687493" "00001108" "90" "172" "0" "172" "0" "c.172G>T" "r.(?)" "p.(Glu58*)" "" "0000687494" "00001108" "90" "172" "0" "172" "0" "c.172G>T" "r.(?)" "p.(Glu58*)" "" "0000687495" "00001108" "90" "176" "0" "179" "0" "c.176_179dup" "r.(?)" "p.(Ala61Glyfs*78)" "" "0000687496" "00001108" "90" "415" "-2" "415" "-2" "c.415-2A>G" "r.(?)" "p.?" "" "0000687497" "00001108" "90" "445" "0" "448" "0" "c.445_448delins(69)" "r.(?)" "p.?" "" "0000687498" "00001108" "90" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Trp167*)" "" "0000687499" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687500" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687501" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687502" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687503" "00001108" "90" "627" "0" "627" "0" "c.627del" "r.(?)" "p.(Phe210Leufs*10)" "" "0000687504" "00001108" "90" "627" "0" "627" "0" "c.627del" "r.(?)" "p.(Phe210Leufs*10)" "" "0000687505" "00001108" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Gln218*)" "" "0000687506" "00001108" "90" "1001" "0" "1001" "0" "c.1001T>A" "r.(?)" "p.(Leu334*)" "" "0000687507" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687508" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687509" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687510" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>T" "r.(?)" "p.?" "" "0000687511" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>T" "r.(?)" "p.?" "" "0000687512" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687513" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687514" "00001108" "90" "1123" "-1" "1123" "-1" "c.1123-1G>T" "r.(?)" "p.?" "" "0000687515" "00001108" "90" "1497" "1" "1497" "1" "c.(1497+1G>C)" "r.(?)" "p.?" "" "0000687516" "00001108" "90" "1585" "0" "1585" "0" "c.1585del" "r.(?)" "p.(Val529Trpfs*22)" "" "0000687517" "00001108" "90" "1586" "0" "1586" "0" "c.1586del" "r.(?)" "p.(Val529Glyfs*22)" "" "0000687518" "00001108" "90" "1613" "0" "1613" "0" "c.1613C>G" "r.(?)" "p.(Ser538*)" "" "0000687519" "00001108" "90" "1782" "0" "1783" "0" "c.1782_1783insTT" "r.(?)" "p.(His595Phefs*60)" "" "0000687520" "00001108" "90" "1783" "0" "1784" "0" "c.1783_1784del" "r.(?)" "p.(His595Trpfs*20)" "" "0000687521" "00001108" "90" "1818" "0" "1818" "0" "c.1818G>A" "r.(?)" "p.(Trp606*)" "" "0000687522" "00001108" "90" "2007" "1" "2007" "1" "c.2007+1G>A" "r.(?)" "p.?" "" "0000687523" "00001108" "90" "2007" "2" "2007" "2" "c.2007+2dup" "r.(?)" "p.?" "" "0000687524" "00001108" "90" "2007" "2" "2007" "2" "c.2007+2dup" "r.(?)" "p.?" "" "0000687525" "00001108" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "0000687526" "00001108" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "0000687527" "00001108" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "0000687528" "00001108" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "0000687529" "00001108" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "0000687530" "00001108" "90" "2140" "0" "2140" "0" "c.2140del" "r.(?)" "p.(Glu714Argfs*7)" "" "0000687531" "00001108" "90" "2253" "0" "2253" "0" "c.2253dup" "r.(?)" "p.(Ser752Glufs*34)" "" "0000687532" "00001108" "90" "2341" "0" "2343" "0" "c.2341_2343delinsAT" "r.(?)" "p.(Gln781Ilefs*27)" "" "0000687533" "00001108" "90" "2407" "0" "2407" "0" "c.2407G>T" "r.(?)" "p.(Glu803*)" "" "0000687534" "00001108" "90" "2408" "0" "2408" "0" "c.2408del" "r.(?)" "p.(Glu803Glyfs*5)" "" "0000687535" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687536" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687537" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687538" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687539" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687540" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687541" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687542" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687543" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687544" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687545" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687546" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687547" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687548" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687549" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687550" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687551" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687552" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687590" "00001108" "90" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Cys231Tyr)" "" "0000687591" "00001108" "90" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Cys231Tyr)" "" "0000687592" "00001108" "90" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Cys231Tyr)" "" "0000687593" "00001108" "90" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" "" "0000687594" "00001108" "90" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" "" "0000687595" "00001108" "90" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" "" "0000687596" "00001108" "90" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" "" "0000687597" "00001108" "90" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" "" "0000687598" "00001108" "90" "2113" "0" "2113" "0" "c.2113A>G" "r.(?)" "p.(Met705Val)" "" "0000687599" "00001108" "90" "2113" "0" "2113" "0" "c.2113A>G" "r.(?)" "p.(Met705Val)" "" "0000687600" "00001108" "90" "2113" "0" "2113" "0" "c.2113A>G" "r.(?)" "p.(Met705Val)" "" "0000687601" "00001108" "90" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Asp731Asn)" "" "0000687602" "00001108" "90" "2326" "0" "2326" "0" "c.2326G>T" "r.(?)" "p.(Asp776Tyr)" "" "0000687603" "00001108" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000687604" "00001108" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000687605" "00001108" "90" "90" "0" "90" "0" "c.90dup" "r.(?)" "p.(Pro31Serfs*107)" "" "0000687606" "00001108" "90" "90" "0" "90" "0" "c.90dup" "r.(?)" "p.(Pro31Serfs*107)" "" "0000687607" "00001108" "90" "90" "0" "90" "0" "c.90dup" "r.(?)" "p.(Pro31Serfs*107)" "" "0000687608" "00001108" "90" "90" "0" "90" "0" "c.90dup" "r.(?)" "p.(Pro31Serfs*107)" "" "0000687609" "00001108" "90" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Trp55*)" "" "0000687610" "00001108" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "" "0000687611" "00001108" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "" "0000687612" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687613" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687614" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687615" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687616" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687617" "00001108" "90" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Trp198*)" "" "0000687618" "00001108" "90" "1001" "0" "1001" "0" "c.1001T>A" "r.(?)" "p.(Leu334*)" "" "0000687619" "00001108" "90" "1001" "0" "1001" "0" "c.1001T>A" "r.(?)" "p.(Leu334*)" "" "0000687620" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687621" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687622" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687623" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687624" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687625" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687626" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687627" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687628" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687629" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687630" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687631" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687632" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687633" "00001108" "90" "1007" "1" "1007" "1" "c.1007+1G>A" "r.(?)" "p.?" "" "0000687634" "00001108" "90" "1123" "-1" "1123" "-1" "c.1123-1G>T" "r.(?)" "p.?" "" "0000687635" "00001108" "90" "1585" "0" "1585" "0" "c.1585del" "r.(?)" "p.(Val529Trpfs*22)" "" "0000687636" "00001108" "90" "1585" "0" "1585" "0" "c.1585del" "r.(?)" "p.(Val529Trpfs*22)" "" "0000687637" "00001108" "90" "1651" "1" "1651" "1" "c.1651+1del" "r.(?)" "p.?" "" "0000687638" "00001108" "90" "1686" "0" "1686" "0" "c.1686del" "r.(?)" "p.(Phe562Leufs*2)" "" "0000687639" "00001108" "90" "1692" "0" "1692" "0" "c.1692del" "r.(?)" "p.(Met564Ilefs*8)" "" "0000687640" "00001108" "90" "2007" "1" "2007" "1" "c.2007+1G>A" "r.(?)" "p.?" "" "0000687641" "00001108" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "0000687642" "00001108" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "0000687643" "00001108" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "0000687644" "00001108" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "0000687645" "00001108" "90" "2334" "0" "2338" "0" "c.2334_2338del" "r.(?)" "p.(Leu779Serfs*5)" "" "0000687646" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687647" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687648" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687649" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687650" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687651" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687652" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687653" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687654" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687655" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687656" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687657" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687658" "00001108" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687669" "00001108" "90" "2008" "-1" "2008" "-1" "c.2008-1G>T" "r.(?)" "p.?" "" "0000687706" "00001108" "90" "2246" "0" "2246" "0" "c.2246C>T" "r.(?)" "p.(Thr749Ile)" "" "0000692243" "00001108" "30" "3190" "0" "3190" "0" "c.3190A>G" "r.(?)" "p.(Thr1064Ala)" "" "0000692243" "00026022" "30" "3190" "0" "3190" "0" "c.3190A>G" "r.(?)" "p.(Thr1064Ala)" "" "0000692244" "00001108" "70" "2469" "0" "2469" "0" "c.2469G>A" "r.(?)" "p.(Met823Ile)" "" "0000692244" "00026022" "70" "2469" "0" "2469" "0" "c.2469G>A" "r.(?)" "p.(Met823Ile)" "" "0000692245" "00001108" "90" "1204" "0" "1204" "0" "c.1204del" "r.(?)" "p.(Asp402MetfsTer21)" "" "0000692245" "00026022" "90" "1204" "0" "1204" "0" "c.1204del" "r.(?)" "p.(Asp402MetfsTer21)" "" "0000698185" "00001108" "70" "1925" "0" "1925" "0" "c.1925T>G" "r.(?)" "p.(Leu642Arg)" "" "0000725408" "00001108" "30" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Gly247=)" "" "0000725408" "00026022" "30" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Gly247=)" "" "0000725409" "00001108" "50" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Ala213Val)" "" "0000725409" "00026022" "50" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Ala213Val)" "" "0000726142" "00001108" "30" "3738" "0" "3738" "0" "c.3738T>C" "r.(?)" "p.(Tyr1246=)" "" "0000726142" "00026022" "30" "3738" "0" "3738" "0" "c.3738T>C" "r.(?)" "p.(Tyr1246=)" "" "0000726146" "00001108" "30" "2277" "0" "2277" "0" "c.2277C>T" "r.(?)" "p.(Thr759=)" "" "0000726146" "00026022" "30" "2277" "0" "2277" "0" "c.2277C>T" "r.(?)" "p.(Thr759=)" "" "0000726147" "00001108" "70" "2169" "-2" "2169" "-2" "c.2169-2A>T" "r.spl?" "p.?" "" "0000726147" "00026022" "70" "2169" "-2" "2169" "-2" "c.2169-2A>T" "r.spl?" "p.?" "" "0000786884" "00001108" "70" "2764" "0" "2764" "0" "c.2764del" "r.(?)" "p.(Ala922LeufsTer20)" "14" "0000787291" "00001108" "50" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(Asn202Ser)" "4" "0000787292" "00001108" "50" "1351" "0" "1351" "0" "c.1351A>T" "r.(?)" "p.(Asn451Tyr)" "7" "0000787293" "00001108" "50" "1351" "0" "1351" "0" "c.1351A>T" "r.(?)" "p.(Asn451Tyr)" "7" "0000787294" "00001108" "50" "4090" "0" "4090" "0" "c.4090G>A" "r.(?)" "p.(Asp1364Asn)" "14" "0000787295" "00001108" "50" "4139" "0" "4139" "0" "c.4139G>A" "r.(?)" "p.(Gly1380Glu)" "14" "0000787471" "00001108" "50" "2482" "0" "2482" "0" "c.2482A>G" "r.(?)" "p.(Met828Val)" "13" "0000807033" "00001108" "50" "502" "0" "502" "0" "c.502C>A" "r.(?)" "p.(His168Asn)" "" "0000807033" "00026022" "50" "502" "0" "502" "0" "c.502C>A" "r.(?)" "p.(His168Asn)" "" "0000807783" "00001108" "30" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Arg1285Lys)" "" "0000807783" "00026022" "30" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Arg1285Lys)" "" "0000807784" "00001108" "50" "3617" "0" "3617" "0" "c.3617G>A" "r.(?)" "p.(Arg1206Gln)" "" "0000807784" "00026022" "50" "3617" "0" "3617" "0" "c.3617G>A" "r.(?)" "p.(Arg1206Gln)" "" "0000807785" "00001108" "50" "3476" "0" "3476" "0" "c.3476G>C" "r.(?)" "p.(Arg1159Pro)" "" "0000807785" "00026022" "50" "3476" "0" "3476" "0" "c.3476G>C" "r.(?)" "p.(Arg1159Pro)" "" "0000807786" "00001108" "90" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Ala716Thr)" "" "0000807786" "00026022" "90" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Ala716Thr)" "" "0000854739" "00001108" "50" "3898" "0" "3898" "0" "c.3898A>G" "r.(?)" "p.(Arg1300Gly)" "" "0000854739" "00026022" "50" "3898" "0" "3898" "0" "c.3898A>G" "r.(?)" "p.(Arg1300Gly)" "" "0000854740" "00001108" "10" "1498" "-17" "1498" "-14" "c.1498-17_1498-14dup" "r.(=)" "p.(=)" "" "0000854740" "00026022" "10" "1498" "-17" "1498" "-14" "c.1498-17_1498-14dup" "r.(=)" "p.(=)" "" "0000854741" "00001108" "10" "1498" "-15" "1498" "-14" "c.1498-15_1498-14del" "r.(=)" "p.(=)" "" "0000854741" "00026022" "10" "1498" "-15" "1498" "-14" "c.1498-15_1498-14del" "r.(=)" "p.(=)" "" "0000864274" "00001108" "90" "821" "0" "821" "0" "c.821C>A" "r.(?)" "p.(Ser274*)" "" "0000864274" "00026022" "90" "821" "0" "821" "0" "c.821C>A" "r.(?)" "p.(Ser274*)" "" "0000865053" "00001108" "50" "1346" "0" "1346" "0" "c.1346G>T" "r.(?)" "p.(Gly449Val)" "" "0000865053" "00026022" "50" "1346" "0" "1346" "0" "c.1346G>T" "r.(?)" "p.(Gly449Val)" "" "0000892490" "00001108" "90" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Pro79Arg)" "" "0000892490" "00026022" "90" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Pro79Arg)" "" "0000893328" "00001108" "50" "3169" "0" "3169" "0" "c.3169G>T" "r.(?)" "p.(Ala1057Ser)" "" "0000893328" "00026022" "50" "3169" "0" "3169" "0" "c.3169G>T" "r.(?)" "p.(Ala1057Ser)" "" "0000893329" "00001108" "90" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ala818Val)" "" "0000893329" "00026022" "90" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ala818Val)" "" "0000893330" "00001108" "50" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Ala555Thr)" "" "0000893330" "00026022" "50" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Ala555Thr)" "" "0000926389" "00001108" "50" "3126" "0" "3126" "0" "c.3126G>C" "r.(?)" "p.(Arg1042Ser)" "" "0000926389" "00026022" "50" "3126" "0" "3126" "0" "c.3126G>C" "r.(?)" "p.(Arg1042Ser)" "" "0000926390" "00001108" "70" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695Gln)" "" "0000926390" "00026022" "70" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695Gln)" "" "0000933302" "00001108" "70" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ala818Val)" "" "0000933303" "00001108" "90" "1783" "0" "1783" "0" "c.1783del" "r.(?)" "p.(His595Metfs*59)" "" "0000946903" "00001108" "70" "2831" "0" "2831" "0" "c.2831C>T" "r.(?)" "p.(Ser944Leu)" "" "0000950790" "00001108" "50" "4343" "0" "4343" "0" "c.4343G>A" "r.(?)" "p.(Cys1448Tyr)" "" "0000950790" "00026022" "50" "4343" "0" "4343" "0" "c.4343G>A" "r.(?)" "p.(Cys1448Tyr)" "" "0000950791" "00001108" "70" "2526" "0" "2526" "0" "c.2526C>A" "r.(?)" "p.(Tyr842*)" "" "0000950791" "00026022" "70" "2526" "0" "2526" "0" "c.2526C>A" "r.(?)" "p.(Tyr842*)" "" "0000950792" "00001108" "50" "1820" "0" "1820" "0" "c.1820T>C" "r.(?)" "p.(Leu607Pro)" "" "0000950792" "00026022" "50" "1820" "0" "1820" "0" "c.1820T>C" "r.(?)" "p.(Leu607Pro)" "" "0000954122" "00001108" "50" "4090" "0" "4090" "0" "c.4090G>A" "r.(?)" "p.(Asp1364Asn)" "" "0000981551" "00001108" "30" "1008" "-19763" "1008" "-19763" "c.1008-19763A>C" "r.(=)" "p.(=)" "" "0000981551" "00026022" "30" "1008" "-19763" "1008" "-19763" "c.1008-19763A>C" "r.(=)" "p.(=)" "" "0000981554" "00001108" "30" "414" "38900" "414" "38900" "c.414+38900C>A" "r.(=)" "p.(=)" "" "0000981554" "00026022" "30" "414" "38900" "414" "38900" "c.414+38900C>A" "r.(=)" "p.(=)" "" "0000981555" "00001108" "50" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49His)" "" "0000981555" "00026022" "50" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49His)" "" "0000982257" "00001108" "50" "3829" "0" "3829" "0" "c.3829C>T" "r.(?)" "p.(Leu1277Phe)" "" "0000982257" "00026022" "50" "3829" "0" "3829" "0" "c.3829C>T" "r.(?)" "p.(Leu1277Phe)" "" "0000982258" "00001108" "30" "1777" "139" "1777" "139" "c.1777+139G>C" "r.(=)" "p.(=)" "" "0000982258" "00026022" "30" "1777" "139" "1777" "139" "c.1777+139G>C" "r.(=)" "p.(=)" "" "0001001853" "00001108" "30" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Met74Ile)" "" "0001001853" "00026022" "30" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Met74Ile)" "" "0001002855" "00001108" "50" "3859" "0" "3859" "0" "c.3859A>T" "r.(?)" "p.(Ser1287Cys)" "" "0001002855" "00026022" "50" "3859" "0" "3859" "0" "c.3859A>T" "r.(?)" "p.(Ser1287Cys)" "" "0001002856" "00001108" "50" "3854" "0" "3854" "0" "c.3854G>T" "r.(?)" "p.(Arg1285Met)" "" "0001002856" "00026022" "50" "3854" "0" "3854" "0" "c.3854G>T" "r.(?)" "p.(Arg1285Met)" "" "0001002857" "00001108" "30" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Arg1285Lys)" "" "0001002857" "00026022" "30" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Arg1285Lys)" "" "0001002858" "00001108" "50" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Asp1182Asn)" "" "0001002858" "00026022" "50" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Asp1182Asn)" "" "0001002859" "00001108" "30" "3103" "0" "3103" "0" "c.3103G>A" "r.(?)" "p.(Asp1035Asn)" "" "0001002859" "00026022" "30" "3103" "0" "3103" "0" "c.3103G>A" "r.(?)" "p.(Asp1035Asn)" "" "0001002860" "00001108" "50" "2551" "0" "2551" "0" "c.2551G>C" "r.(?)" "p.(Gly851Arg)" "" "0001002860" "00026022" "50" "2551" "0" "2551" "0" "c.2551G>C" "r.(?)" "p.(Gly851Arg)" "" "0001002861" "00001108" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Val452Met)" "" "0001002861" "00026022" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Val452Met)" "" "0001040737" "00001108" "30" "547" "0" "547" "0" "c.547T>A" "r.(?)" "p.(Phe183Ile)" "" "0001040737" "00026022" "30" "547" "0" "547" "0" "c.547T>A" "r.(?)" "p.(Phe183Ile)" "" "0001040743" "00001108" "30" "415" "-101525" "415" "-101524" "c.415-101525_415-101524del" "r.(=)" "p.(=)" "" "0001040743" "00026022" "30" "415" "-101525" "415" "-101524" "c.415-101525_415-101524del" "r.(=)" "p.(=)" "" "0001040744" "00001108" "30" "415" "-101530" "415" "-101530" "c.415-101530G>A" "r.(=)" "p.(=)" "" "0001040744" "00026022" "30" "415" "-101530" "415" "-101530" "c.415-101530G>A" "r.(=)" "p.(=)" "" "0001041543" "00001108" "50" "3126" "0" "3126" "0" "c.3126G>C" "r.(?)" "p.(Arg1042Ser)" "" "0001041543" "00026022" "50" "3126" "0" "3126" "0" "c.3126G>C" "r.(?)" "p.(Arg1042Ser)" "" "0001041544" "00001108" "50" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Gly664Ser)" "" "0001041544" "00026022" "50" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Gly664Ser)" "" "0001041545" "00001108" "30" "1851" "0" "1851" "0" "c.1851G>C" "r.(?)" "p.(=)" "" "0001041545" "00026022" "30" "1851" "0" "1851" "0" "c.1851G>C" "r.(?)" "p.(=)" "" "0001041546" "00001108" "50" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Ser511Leu)" "" "0001041546" "00026022" "50" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Ser511Leu)" "" "0001041547" "00001108" "30" "1498" "-5" "1498" "-5" "c.1498-5T>C" "r.spl?" "p.?" "" "0001041547" "00026022" "30" "1498" "-5" "1498" "-5" "c.1498-5T>C" "r.spl?" "p.?" "" "0001049796" "00001108" "70" "390" "0" "390" "0" "c.390del" "r.(?)" "p.(Ala131Hisfs*3)" "" "0001049796" "00026022" "70" "390" "0" "390" "0" "c.390del" "r.(?)" "p.(Ala131Hisfs*3)" "" "0001055436" "00001108" "50" "4229" "0" "4229" "0" "c.4229C>T" "r.(?)" "p.(Ser1410Leu)" "" "0001055436" "00026022" "50" "4229" "0" "4229" "0" "c.4229C>T" "r.(?)" "p.(Ser1410Leu)" "" "0001055437" "00001108" "50" "3499" "0" "3499" "0" "c.3499A>G" "r.(?)" "p.(Met1167Val)" "" "0001055437" "00026022" "50" "3499" "0" "3499" "0" "c.3499A>G" "r.(?)" "p.(Met1167Val)" "" "0001055438" "00001108" "50" "3368" "0" "3368" "0" "c.3368A>C" "r.(?)" "p.(Glu1123Ala)" "" "0001055438" "00026022" "50" "3368" "0" "3368" "0" "c.3368A>C" "r.(?)" "p.(Glu1123Ala)" "" "0001055439" "00001108" "50" "1183" "0" "1183" "0" "c.1183T>C" "r.(?)" "p.(Ser395Pro)" "" "0001055439" "00026022" "50" "1183" "0" "1183" "0" "c.1183T>C" "r.(?)" "p.(Ser395Pro)" "" "0001055440" "00001108" "50" "998" "0" "998" "0" "c.998C>A" "r.(?)" "p.(Thr333Asn)" "" "0001055440" "00026022" "50" "998" "0" "998" "0" "c.998C>A" "r.(?)" "p.(Thr333Asn)" "" "0001055441" "00001108" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Gly295Ser)" "" "0001055441" "00026022" "30" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Gly295Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 264 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005562" "0000000209" "0000005563" "0000000209" "0000005564" "0000000209" "0000005565" "0000000210" "0000013523" "0000000210" "0000013524" "0000000210" "0000013525" "0000016254" "0000036000" "0000016256" "0000036003" "0000017816" "0000038006" "0000017816" "0000038008" "0000017817" "0000038007" "0000074583" "0000118964" "0000117265" "0000188350" "0000117266" "0000188358" "0000117267" "0000188398" "0000117271" "0000188429" "0000117324" "0000188169" "0000117329" "0000188174" "0000117339" "0000188184" "0000117367" "0000188469" "0000117405" "0000188250" "0000117422" "0000188267" "0000117431" "0000188276" "0000117436" "0000188487" "0000117502" "0000188332" "0000117515" "0000188348" "0000117516" "0000188518" "0000117521" "0000188357" "0000117529" "0000188367" "0000117537" "0000188376" "0000117550" "0000188390" "0000117551" "0000188535" "0000117567" "0000188540" "0000184019" "0000407957" "0000184021" "0000407959" "0000208970" "0000439033" "0000210079" "0000441249" "0000277176" "0000631920" "0000292776" "0000649465" "0000292777" "0000649466" "0000292778" "0000649467" "0000297906" "0000660609" "0000297907" "0000660610" "0000297908" "0000660611" "0000297909" "0000660612" "0000297910" "0000660613" "0000297911" "0000660614" "0000297912" "0000660615" "0000297913" "0000660616" "0000297914" "0000660617" "0000297915" "0000660618" "0000297916" "0000660619" "0000297917" "0000660620" "0000297918" "0000660621" "0000297919" "0000660622" "0000297920" "0000660623" "0000297921" "0000660624" "0000297922" "0000660625" "0000297923" "0000660626" "0000302383" "0000665616" "0000302389" "0000665622" "0000302390" "0000665623" "0000307108" "0000673673" "0000308283" "0000675198" "0000308287" "0000675216" "0000308936" "0000683370" "0000311889" "0000687440" "0000311890" "0000687441" "0000311891" "0000687442" "0000311892" "0000687443" "0000311893" "0000687444" "0000311894" "0000687445" "0000311895" "0000687446" "0000311896" "0000687447" "0000311897" "0000687448" "0000311898" "0000687449" "0000311899" "0000687450" "0000311900" "0000687451" "0000311901" "0000687452" "0000311902" "0000687453" "0000311903" "0000687454" "0000311904" "0000687455" "0000311905" "0000687456" "0000311906" "0000687457" "0000311907" "0000687458" "0000311908" "0000687459" "0000311909" "0000687460" "0000311910" "0000687461" "0000311911" "0000687462" "0000311912" "0000687463" "0000311913" "0000687464" "0000311914" "0000687465" "0000311915" "0000687466" "0000311916" "0000687467" "0000311917" "0000687468" "0000311918" "0000687469" "0000311919" "0000687470" "0000311920" "0000687471" "0000311921" "0000687472" "0000311922" "0000687473" "0000311923" "0000687474" "0000311924" "0000687475" "0000311925" "0000687476" "0000311926" "0000687477" "0000311927" "0000687478" "0000311928" "0000687479" "0000311929" "0000687480" "0000311930" "0000687481" "0000311931" "0000687482" "0000311932" "0000687483" "0000311933" "0000687484" "0000311934" "0000687485" "0000311935" "0000687486" "0000311936" "0000687487" "0000311937" "0000687488" "0000311938" "0000687489" "0000311939" "0000687490" "0000311940" "0000687491" "0000311941" "0000687492" "0000311942" "0000687493" "0000311943" "0000687494" "0000311944" "0000687495" "0000311945" "0000687496" "0000311946" "0000687497" "0000311947" "0000687498" "0000311948" "0000687499" "0000311949" "0000687500" "0000311950" "0000687501" "0000311951" "0000687502" "0000311952" "0000687503" "0000311953" "0000687504" "0000311954" "0000687505" "0000311955" "0000687506" "0000311956" "0000687507" "0000311957" "0000687508" "0000311958" "0000687509" "0000311959" "0000687510" "0000311960" "0000687511" "0000311961" "0000687512" "0000311962" "0000687513" "0000311963" "0000687514" "0000311964" "0000687515" "0000311965" "0000687516" "0000311966" "0000687517" "0000311967" "0000687518" "0000311968" "0000687519" "0000311969" "0000687520" "0000311970" "0000687521" "0000311971" "0000687522" "0000311972" "0000687523" "0000311973" "0000687524" "0000311974" "0000687525" "0000311975" "0000687526" "0000311976" "0000687527" "0000311977" "0000687528" "0000311978" "0000687529" "0000311979" "0000687530" "0000311980" "0000687531" "0000311981" "0000687532" "0000311982" "0000687533" "0000311983" "0000687534" "0000311984" "0000687535" "0000311985" "0000687536" "0000311986" "0000687537" "0000311987" "0000687538" "0000311988" "0000687539" "0000311989" "0000687540" "0000311990" "0000687541" "0000311991" "0000687542" "0000311992" "0000687543" "0000311993" "0000687544" "0000311994" "0000687545" "0000311995" "0000687546" "0000311996" "0000687547" "0000311997" "0000687548" "0000311998" "0000687549" "0000311999" "0000687550" "0000312000" "0000687551" "0000312001" "0000687552" "0000312039" "0000687590" "0000312040" "0000687591" "0000312041" "0000687592" "0000312042" "0000687593" "0000312043" "0000687594" "0000312044" "0000687595" "0000312045" "0000687596" "0000312046" "0000687597" "0000312047" "0000687598" "0000312048" "0000687599" "0000312049" "0000687600" "0000312050" "0000687601" "0000312051" "0000687602" "0000312052" "0000687603" "0000312053" "0000687604" "0000312054" "0000687605" "0000312055" "0000687606" "0000312056" "0000687607" "0000312057" "0000687608" "0000312058" "0000687609" "0000312059" "0000687610" "0000312060" "0000687611" "0000312061" "0000687612" "0000312062" "0000687613" "0000312063" "0000687614" "0000312064" "0000687615" "0000312065" "0000687616" "0000312066" "0000687617" "0000312067" "0000687618" "0000312068" "0000687619" "0000312069" "0000687620" "0000312070" "0000687621" "0000312071" "0000687622" "0000312072" "0000687623" "0000312073" "0000687624" "0000312074" "0000687625" "0000312075" "0000687626" "0000312076" "0000687627" "0000312077" "0000687628" "0000312078" "0000687629" "0000312079" "0000687630" "0000312080" "0000687631" "0000312081" "0000687632" "0000312082" "0000687633" "0000312083" "0000687634" "0000312084" "0000687635" "0000312085" "0000687636" "0000312086" "0000687637" "0000312087" "0000687638" "0000312088" "0000687639" "0000312089" "0000687640" "0000312090" "0000687641" "0000312091" "0000687642" "0000312092" "0000687643" "0000312093" "0000687644" "0000312094" "0000687645" "0000312095" "0000687646" "0000312096" "0000687647" "0000312097" "0000687648" "0000312098" "0000687649" "0000312099" "0000687650" "0000312100" "0000687651" "0000312101" "0000687652" "0000312102" "0000687653" "0000312103" "0000687654" "0000312104" "0000687655" "0000312105" "0000687656" "0000312106" "0000687657" "0000312107" "0000687658" "0000312118" "0000687669" "0000312155" "0000687706" "0000316059" "0000698185" "0000375505" "0000787471" "0000375533" "0000786884" "0000375940" "0000787291" "0000375941" "0000787292" "0000375942" "0000787293" "0000375943" "0000787294" "0000375944" "0000787295" "0000437871" "0000933302" "0000437872" "0000933303" "0000444963" "0000946903" "0000445920" "0000954122" "0000469471" "0001049796"