### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GNAO1) # 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}}" "GNAO1" "guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O" "16" "q13" "unknown" "NC_000016.9" "UD_132464456550" "" "https://www.LOVD.nl/GNAO1" "" "1" "4389" "2775" "139311" "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/GNAO1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-07-07 11:03:40" "00006" "2025-12-19 08:49:23" ## 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}}" "00001568" "GNAO1" "transcript variant 1" "001" "NM_020988.2" "" "NP_066268.1" "" "" "" "-897" "2435" "1065" "56225251" "56391356" "00000" "2012-09-13 13:40:15" "" "" "00025848" "GNAO1" "transcript variant 2" "000" "NM_138736.2" "" "NP_620073.2" "" "" "" "-897" "5332" "1065" "56225251" "56382111" "00006" "2023-08-14 14:07:52" "" "" ## 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" "" "" "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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03912" "EEOC" "encephalopathy, epileptic, childhood-onset (EEOC)" "AD" "615369" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-06 18:22:59" "03959" "DEE17;EIEE17" "developmental and epileptic encephalopathy, type 17" "AD" "615473" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-07-07 11:03:05" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06299" "NEDIM" "Neurodevelopmental disorder with involuntary movements" "AD" "617493" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GNAO1" "03959" "GNAO1" "06299" "GNAO1" "06906" ## Individuals ## Do not remove or alter this header ## ## Count = 325 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00033854" "" "" "" "1" "" "00111" "{PMID:Saitsu 2016:25966631}" "" "F" "?" "Russian Federation" "" "0" "" "refractory response to epilepsy treatment" "" "" "00033855" "" "" "" "1" "" "00111" "{PMID:Saitsu 2016:25966631}" "" "F" "no" "Japan" "" "0" "" "refractory response to epilepsy treatment" "Japanese" "" "00033856" "" "" "" "1" "" "00111" "{PMID:Saitsu 2016:25966631}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00033857" "" "" "" "1" "" "00111" "{PMID:Saitsu 2016:25966631}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00050443" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050447" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050474" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00089213" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "M" "" "" "" "0" "" "" "" "" "00116923" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_353:0/1:CONTROL" "00164428" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00269903" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00299456" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00302969" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat14" "00302974" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat19" "00314878" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "Trio45" "00403879" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "M" "" "Jordan" "" "0" "" "" "" "TF098" "00412962" "" "" "" "1" "" "00006" "{PMID:Nakamura 2013:23993195}" "" "F" "" "Japan" "" "0" "" "refractory response to epilepsy treatment" "" "Pat1" "00412963" "" "" "" "1" "" "00006" "{PMID:Nakamura 2013:23993195}" "" "F" "" "Japan" "" "0" "" "refractory response to epilepsy treatment" "" "Pat2" "00412964" "" "" "" "1" "" "00006" "{PMID:Nakamura 2013:23993195}" "" "F" "" "Japan" "00y11m" "0" "" "refractory response to epilepsy treatment" "" "Pat3" "00412965" "" "" "" "1" "" "00006" "{PMID:Nakamura 2013:23993195}" "" "F" "" "Japan" "" "0" "" "refractory response to epilepsy treatment" "" "Pat4" "00437994" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00437995" "" "" "" "1" "" "04362" "{PMID:DDD 2017:28135719}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00437996" "" "" "" "1" "" "04362" "{PMID:Bruun 2018: 28817111}" "" "M" "" "Canada" "" "0" "" "" "" "" "00437997" "" "" "" "1" "" "04362" "{PMID:DDD 2015:25533962}" "" "F" "" "" "" "0" "" "" "" "" "00437998" "" "" "" "1" "" "04362" "Lecoquierre 2018" "" "" "" "France" "" "0" "" "" "" "" "00437999" "" "" "" "1" "" "04362" "{PMID:Danti 2017:28357411}" "" "F" "" "Italy" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438000" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "M" "" "" "" "0" "" "" "" "" "00438001" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438002" "" "" "" "1" "" "04362" "{PMID:DDD 2017:28135719}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00438003" "" "" "" "1" "" "04362" "{PMID:Takata 2019:31175295}" "" "" "" "" "" "0" "" "" "" "" "00438004" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "M" "" "China" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438005" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438006" "" "" "" "1" "" "04362" "{PMID:Rim 2018: 29390993}" "" "M" "" "" "" "0" "" "" "" "" "00438007" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "F" "" "" "" "0" "" "" "" "" "00438008" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "M" "" "" "" "0" "" "" "" "" "00438009" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "F" "" "" "" "0" "" "" "" "" "00438010" "" "" "" "1" "" "04362" "{PMID:Liu 2022:35509770}" "" "F" "" "China" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438011" "" "" "" "1" "" "04362" "{PMID:Powis 2020: 31628766}" "" "M" "" "" "" "0" "" "partially refractory response to epilepsy treatment" "" "" "00438012" "" "" "" "1" "" "04362" "{PMID:Gawlinski 2016: 27343026}" "" "F" "" "" "" "0" "" "" "" "" "00438013" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "F" "" "China" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438014" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "" "" "" "00438015" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438016" "" "" "" "1" "" "04362" "{PMID:Danti 2017:28357411}" "" "M" "" "Italy" "" "0" "" "partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment" "" "" "00438017" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438018" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "Netherlands" "" "0" "" "partially refractory response to treatment movement disorder; refractory response to epilepsy treatment" "" "Pat5" "00438019" "" "" "" "1" "" "04362" "{PMID:Rim 2018: 29390993}" "" "" "" "" "" "0" "" "" "" "" "00438020" "" "" "" "1" "" "04362" "{PMID:Solis 2021: 34685729}" "" "M" "" "" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438021" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438022" "" "" "" "1" "" "04362" "{PMID:Danti 2017:28357411}" "" "F" "" "Italy" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438023" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438024" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438025" "" "" "" "1" "" "04362" "" "" "" "" "" "" "0" "" "" "" "" "00438026" "" "" "" "1" "" "04362" "{PMID:Helbig 2020: 32666661}" "" "F" "" "" "" "0" "" "" "" "" "00438027" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "F" "" "China" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438028" "" "" "" "1" "" "04362" "Decipher" "" "F" "" "" "" "0" "" "" "" "" "00438029" "" "" "" "1" "" "04362" "{PMID:Bobylova 2023:36719128}" "" "" "" "Russia" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438030" "" "" "" "1" "" "04362" "" "" "" "" "" "" "0" "" "" "" "" "00438031" "" "" "" "1" "" "04362" "Shah 2022, ISPMD" "" "F" "" "" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438032" "" "" "" "1" "" "04362" "{PMID:Muir 2019: 31394400}" "" "" "" "" "" "0" "" "" "" "" "00438033" "" "" "" "1" "" "04362" "{PMID:Graziola 2019: 31737037}" "" "M" "" "" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438034" "" "" "" "1" "" "04362" "{PMID:Turro 2020:32581362}" "" "" "" "" "" "0" "" "" "" "" "00438035" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438036" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438037" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat8" "00438038" "" "" "" "1" "" "04362" "{PMID:Powis 2020: 31628766}" "" "" "" "" "" "0" "" "" "" "" "00438039" "" "" "" "1" "" "04362" "" "" "" "" "" "" "0" "" "" "" "" "00438040" "" "" "" "1" "" "04362" "Decipher" "" "F" "" "" "" "0" "" "" "" "" "00438041" "" "" "" "1" "" "04362" "{PMID:Marce-Grau 2016: 27072799}, {PMID:Domínguez-Carral 2023:37548038}" "" "F" "" "Spain" "" "0" "" "partially refractory response to epilepsy treatment" "" "patient;Pat6" "00438042" "" "" "" "1" "" "04362" "{PMID:Zou 2021: 34145886}" "" "M" "" "" "" "0" "" "" "" "" "00438043" "" "" "" "1" "" "04362" "{PMID:Arisaka 2021: 33490948}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder; refractory response to epilepsy treatment" "" "" "00438044" "" "" "" "1" "" "04362" "{PMID:Arya 2017: 28202424}" "" "M" "" "" "" "0" "" "partially refractory response to epilepsy treatment" "" "" "00438045" "" "" "" "1" "" "04362" "{PMID:Fernandez-Marmiesse 2019:31780880}" "" "F" "" "Spain" "" "0" "" "" "" "" "00438046" "" "" "" "1" "" "04362" "{PMID:Fernandez-Marmiesse 2019:31780880}" "" "F" "" "Spain" "" "0" "" "" "" "" "00438047" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438048" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438049" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438050" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438051" "" "" "" "1" "" "04362" "{PMID:DDD 2017:28135719}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00438052" "" "" "" "1" "" "04362" "{PMID:DDD 2017:28135719}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00438053" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "" "" "0" "" "" "" "" "00438054" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438055" "" "" "" "1" "" "04362" "{DOI:Pawłowicz 2021:10.12775/JEHS.2021.11.12.018}" "" "F" "" "" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438056" "" "" "" "1" "" "04362" "{PMID:Retterer 2016:26633542}" "" "F" "" "" "" "0" "" "" "" "" "00438057" "" "" "" "1" "" "04362" "{PMID:Schirinzi 2019:30642806}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment" "" "" "00438058" "" "" "" "1" "" "04362" "{PMID:Schirinzi 2019:30642806}" "" "M" "" "" "" "0" "" "partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment" "" "" "00438059" "" "" "" "1" "" "04362" "{PMID:Schorling 2017:28628939}" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder; refractory response to epilepsy treatment" "" "" "00438060" "" "" "" "1" "" "04362" "{PMID:Schorling 2017:28628939}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment" "" "" "00438061" "" "" "" "1" "" "04362" "{PMID:Takata 2019:31175295}" "" "" "" "" "" "0" "" "" "" "" "00438062" "" "" "" "1" "" "04362" "{PMID:Xiong 2018:29429466}" "" "F" "" "China" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438063" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "M" "" "China" "" "0" "" "refractory response to treatment movement disorder; symptom-free after epilepsy treatment" "" "" "00438064" "" "" "" "1" "" "04362" "{PMID:Bobylova 2023:36719128}" "" "" "" "Russia" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438065" "" "" "" "1" "" "04362" "{PMID:Bobylova 2023:36719128}" "" "" "" "Russia" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438066" "" "" "" "1" "" "04362" "{PMID:Bobylova 2023:36719128}" "" "" "" "Russia" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438067" "" "" "" "1" "" "04362" "{PMID:Bobylova 2023:36719128}" "" "" "" "Russia" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438068" "" "" "" "1" "" "04362" "{PMID:Bobylova 2023:36719128}" "" "" "" "Russia" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438069" "" "" "" "1" "" "04362" "{PMID:Bobylova 2023:36719128}" "" "" "" "Russia" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438070" "" "" "" "1" "" "04362" "Shah 2022, ISPMD" "" "F" "" "" "" "0" "" "" "" "" "00438071" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "F" "" "Italy" "" "0" "" "partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment" "" "" "00438072" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "F" "" "Italy" "" "0" "" "refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438073" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to epilepsy treatment" "" "" "00438074" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438075" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438076" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438077" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438078" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438079" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438080" "" "" "" "1" "" "04362" "{PMID:Koy 2018:30103967}" "" "M" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438081" "" "" "" "1" "" "04362" "{PMID:Yamamoto 2022:35402648}" "" "F" "" "United States" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438082" "" "" "" "1" "" "04362" "" "" "" "" "" "" "0" "" "" "" "" "00438083" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "M" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438084" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "" "" "" "00438085" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "" "" "" "00438086" "" "" "" "1" "" "04362" "{PMID:Kim 2020:33298085}" "" "M" "" "" "" "0" "" "" "" "" "00438087" "" "" "" "1" "" "04362" "{PMID:Yamashita 2020:32044685}" "" "F" "" "Japan" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438088" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "M" "" "" "" "0" "" "" "" "" "00438089" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "" "" "" "00438090" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat7" "00438091" "" "" "" "1" "" "04362" "{PMID:Ananth 2016:27068059}" "" "F" "" "United States" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438092" "" "" "" "1" "" "04362" "{PMID:Akasaka 2021:33358199}" "" "F" "" "" "" "0" "" "smyptom-free after treatment for movement disorder" "" "" "00438093" "" "" "" "1" "" "04362" "{PMID:Brunet 2021:33619735}" "" "F" "" "Germany" "" "0" "" "" "" "" "00438094" "" "" "" "1" "" "04362" "{PMID:Brunet 2021:33619735}" "" "M" "" "Germany" "" "0" "" "" "" "" "00438095" "" "" "" "1" "" "04362" "{PMID:Danhofer 2021:34853807}" "" "M" 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"" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat6" "00438109" "" "" "" "1" "" "04362" "{PMID:Schirinzi 2019:30642806}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438110" "" "" "" "1" "" "04362" "{PMID:Waak 2018:28668776}" "" "M" "" "Australia" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438111" "" "" "" "1" "" "04362" "{PMID:Zech 2020:33098801}" "" "F" "" "" "" "0" "" "" "" "CB-DYS-175" "00438112" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "M" "" "" "" "0" "" "" "" "" "00438113" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "M" "" "Italy" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438114" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "F" "" "Italy" "" "0" "" "refractory response to treatment movement disorder; symptom-free after epilepsy 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"{PMID:Marecos 2018:29696620}" "" "" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438123" "" "" "" "1" "" "04362" "{PMID:Brunet 2021:33619735}" "" "F" "" "Germany" "" "0" "" "" "" "" "00438124" "" "" "" "1" "" "04362" "{PMID:Menke 2016:27625011}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00438125" "" "" "" "1" "" "04362" "{PMID:Zech 2020:33098801}" "" "F" "" "" "" "0" "" "" "" "IS-DYS-431" "00438126" "" "" "" "1" "" "04362" "{PMID:Hu 2023:36972929}" "" "M" "" "China" "" "0" "" "" "" "" "00438127" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "F" "" "Italy" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438128" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438129" "" "" "" "1" "" "04362" "{PMID:van der Ven 2021:34490615}" "" "F" "" "Germany" "" "0" "" "" "" "" "00438130" "" "" "" "1" "" "04362" "{PMID:Honey 2018:29661126}" "" "M" "" "Canada" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438131" "" "" "" "1" "" "04362" "{PMID:Menke 2016:27625011}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00438132" "" "" "" "1" "" "04362" "{DOI:Schöne-Bake 2018:10.1055/s-0038-1675951}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438133" "" "" "" "1" "" "04362" "{PMID:Matthews 2019:30542205}" "" "M" "" "" "" "0" "" "" "" "" "00438134" "" "" "" "1" "" "04362" "{PMID:Carecchio 2019:31216378}" "" "M" "" "" "" "0" "" "partially refractory response to treatment movement disorder;" "" "" "00438135" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "M" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438136" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "" "" "" "00438137" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "M" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438138" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438139" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "F" "" "" "" "0" "" "" "" "" "00438140" "" "" "" "1" "" "04362" "{PMID:May 2021:34114234}" "" "" "" "" "" "0" "" "" "" "" "00438141" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438142" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment" "" "" "00438143" "" "" "" "1" "" "04362" "{PMID:Kim 2020:33298085}" "" "F" "" "" "" "0" "" "" "" "" "00438144" "" "" "" "1" "" "04362" "{PMID:Mahfouz 2020:32382396}" "" "F" "" "" "" "0" "" "" "" "" "00438145" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "" "" "0" "" "mild response to epilepsy treatment" "" "" "00438146" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "" "" "0" "" "" "" "" "00438147" "" "" "" "1" "" "04362" "{PMID:Nashabat 2019:31054490}" "" "F" "" "" "" "0" "" "" "" "" "00438148" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "Netherlands" "" "0" "" "refractory response to epilepsy treatment" "" "Pat3" "00438149" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "M" "" "China" "" "0" "" "Partially refractory" "" "" "00438150" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "M" "" "" "" "0" "" "" "" "" "00438151" "" "" "" "1" "" "04362" "{PMID:Talvik 2015:28503590}" "" "F" "" "" "" "0" "" "" "" "" "00438152" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "F" "" "China" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438153" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "" "" "0" "" "" "" "" "00438154" "" "" "" "1" "" "04362" "{PMID:Rosello 2021:33177673}" "" "" "" "" "" "0" "" "" "" "" "00438155" "" "" "" "1" "" "04362" "{PMID:Yilmaz 2016:27278281}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder;" "" "" "00438156" "" "" "" "1" "" "04362" "{PMID:Yilmaz 2016:27278281}" "" "M" "" "" "" "0" "" "" "" "" "00438157" "" "" "" "1" "" "04362" "{PMID:Cordoba 2018:29389947}" "" "M" "" "" "" "0" "" "" "" "" "00438158" "" "" "" "1" "" "04362" "{PMID:Fernandez-Marmiesse 2019:31780880}" "" "F" "" "Spain" "" "0" "" "" "" "" "00438159" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438160" "" "" "" "1" "" "04362" "{PMID:Koy 2018:30103967}" "" "M" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438161" "" "" "" "1" "" "04362" "{PMID:Koy 2018:30103967}" "" "M" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438162" "" "" "" "1" "" "04362" "{PMID:Marecos 2018:29696620}" "" "M" "" "" "" "0" "" "" "" "" "00438163" "" "" "" "1" "" "04362" "{PMID:Al Masseri 2022:35782616}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00438164" "" "" "" "1" "" "04362" "{PMID:Al Masseri 2022:35782616}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00438165" "" "" "" "1" "" "04362" "{PMID:Monies 2019:31585110}" "" "M" "" "" "" "0" "" "" "" "" "00438166" "" "" "" "1" "" "04362" "{PMID:Okumura 2018:29935962}" "" "F" "" "" "" "0" "" "" "" "" "00438167" "" "" "" "1" "" "04362" "{DOI:Pawłowicz 2021:10.12775/JEHS.2021.11.12.018}" "" "M" "" "" "" "0" "" "" "" "" "00438168" "" "" "" "1" "" "04362" "{PMID:Schirinzi 2019:30642806}" "" "F" "" "" "" "0" "" "" "" "" "00438169" "" "" "" "1" "" "04362" "{PMID:Turro 2020:32581362}" "" "" "" "" "" "0" "" "" "" "" "00438170" "" "" "" "1" "" "04362" "{PMID:Turro 2020:32581362}" "" "" "" "" "" "0" "" "" "" "" "00438171" "" "" "" "1" "" "04362" "{PMID:Waak 2018:28668776}" "" "M" "" "Australia" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438172" "" "" "" "1" "" "04362" "{PMID:Fung 2022:35855141}" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438173" "" "" "" "1" "" "04362" "{PMID:Zech 2020:33098801}" "" "" "" "" "" "0" "" "" "" "CB-DYS-209" "00438174" "" "" "" "1" "" "04362" "{PMID:Ling 2022:36247896}" "" "M" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438175" "" "" "" "1" "" "04362" "{PMID:Bobylova 2023:36719128}" "" "F" "" "Russia" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438176" "" "" "" "1" "" "04362" "{PMID:Danti 2017:28357411}" "" "F" "" "Italy" "" "0" "" "" "" "" "00438177" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "M" "" "Italy" "" "0" "" "smyptom-free after treatment for movement disorder" "" "" "00438178" "" "" "" "1" "" "04362" "{PMID:Koy 2018:30103967}" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438179" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438180" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "" "" "0" "" "" "" "" "00438181" "" "" "" "1" "" "04362" "{PMID:Retterer 2016:26633542}" "" "" "" "" "" "0" "" "" "" "" "00438182" "" "" "" "1" "" "04362" "{PMID:Monies 2019:31585110}" "" "" "" "" "" "0" "" "" "" "" "00438183" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "M" "" "China" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438184" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "M" "" "China" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438185" "" "" "" "1" "" "04362" "{PMID:Al Masseri 2022:35782616}" "" "F" "" "Saudi Arabia" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438186" "" "" "" "1" "" "04362" "{PMID:Al Masseri 2022:35782616}" "" "F" "" "Saudi Arabia" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438187" "" "" "" "1" "" "04362" "{PMID:Al Masseri 2022:35782616}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00438188" "" "" "" "1" "" "04362" "(Miyamoto, Nakashima, Fukumura, Kumada, & Saitsu, 2022)" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438189" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "M" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438190" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438191" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438192" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438193" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "M" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438194" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "M" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438195" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438196" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438197" "" "" "" "1" "" "04362" "{PMID:Liu 2022:35509770}" "" "M" "" "China" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438198" "" "" "" "1" "" "04362" "{PMID:Liu 2022:35509770}" "" "M" "" "China" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438199" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "" "" "0" "" "" "" "" "00438200" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438201" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "M" "" "Italy" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438202" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "M" "" "" "" "0" "" "smyptom-free after treatment for movement disorder" "" "" "00438203" "" "" "" "1" "" "04362" "{PMID:Hamdan 2017:29100083}" "" "" "" "Canada" "" "0" "" "refractory response to epilepsy treatment" "" "HSJ0782" "00438204" "" "" "" "1" "" "04362" "{PMID:Farwell 2015:26795593}" "" "" "" "" "" "0" "" "" "" "" "00438205" "" "" "" "1" "" "04362" "{PMID:Ananth 2016:27068059}" "" "M" "" "United States" "" "0" "" "" "" "" "00438206" "" "" "" "1" "" "04362" "{PMID:Ananth 2016:27068059}" "" "F" "" "United States" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438207" "" "" "" "1" "" "04362" "{PMID:Ananth 2016:27068059}" "" "F" "" "United States" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438208" "" "" "" "1" "" "04362" "{PMID:Ananth 2016:27068059}" "" "M" "" "United States" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438209" "" "" "" "1" "" "04362" "{PMID:Waak 2018:28668776}" "" "F" "" "Australia" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438210" "" "" "" "1" "" "04362" "{PMID:Schorling 2017:28628939}" "" "F" "" "" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438211" "" "" "" "1" "" "04362" "{PMID:Schorling 2017:28628939}" "" "M" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438212" "" "" "" "1" "" "04362" "{PMID:Takezawa 2018:29761117}" "" "F" "" "" "" "0" "" "" "" "" "00438213" "" "" "" "1" "" "04362" "{PMID:Benato 2019:31076915}" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438214" "" "" "" "1" "" "04362" "{PMID:Benato 2019:31076915}" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438215" "" "" "" "1" "" "04362" "{PMID:Kim 2020:33298085}" "" "M" "" "" "" "0" "" "" "" "" "00438216" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "M" "" "China" "" "0" "" "" "" "" "00438217" "" "" "" "1" "" "04362" "Shah 2022, ISPMD" "" "M" "" "" "" "0" "" "" "" "" "00438218" "" "" "" "1" "" "04362" "Mor (pers.comm.)" "" "F" "" "" "" "0" "" "" "" "" "00438219" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "" "" "0" "" "" "" "" "00438220" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "F" "" "Italy" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438221" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "F" "" "Italy" "" "0" "" "" "" "" "00438222" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "M" "" "Italy" "" "0" "" "partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment" "" "" "00438223" "" "" "" "1" "" "04362" "{PMID:Novelli 2023:37142469}" "" "M" "" "Italy" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438224" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "" "" "" "00438225" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "" "" "" "00438226" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to epilepsy treatment" "" "" "00438227" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438228" "" "" "" "1" "" "04362" "{PMID:Liu 2019:31216405}" "" "" "" "" "" "0" "" "" "" "" "00438229" "" "" "" "1" "" "04362" "{PMID:Zou 2021: 34145886}" "" "M" "" "" "" "0" "" "" "" "" "00438230" "" "" "" "1" "" "04362" "{PMID:Danti 2017:28357411}" "" "M" "" "Italy" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438231" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder" "" "" "00438232" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "" "" "" "00438233" "" "" "" "1" "" "04362" "{PMID:Wirth 2022:35722775}" "" "F" "" "" "" "0" "" "refractory response to treatment movement disorder" "" "" "00438234" "" "" "" "1" "" "04362" "{PMID:Euro 2017: 28061363}" "" "F" "" "" "" "0" "" "" "" "" "00438235" "" "" "" "1" "" "04362" "{PMID:Takata 2019:31175295}" "" "" "" "" "" "0" "" "" "" "" "00438236" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "M" "" "China" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438237" "" "" "" "1" "" "04362" "{PMID:Yang 2021:34122306}" "" "F" "" "China" "" "0" "" "symptom-free after epilepsy treatment" "" "" "00438238" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "F" "" "" "" "0" "" "" "" "" "00438239" "" "" "" "1" "" "04362" "{PMID:Schirinzi 2019:30642806}" "" "F" "" "" "" "0" "" "partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment" "" "" "00438240" "" "" "" "1" "" "04362" "{PMID:Euro 2017: 28061363}" "" "F" "" "" "" "0" "" "" "" "" "00438241" "" "" "" "1" "" "04362" "{PMID:Yuskaitis 2018:30174244}" "" "F" "" "" "" "0" "" "" "" "" "00438242" "" "" "" "1" "" "04362" "{PMID:Zou 2021: 34145886}" "" "M" "" "" "" "0" "" "" "" "" "00438243" "" "" "" "1" "" "04362" "{PMID:Baldridge 2017:28252636}" "" "F" "" "" "" "0" "" "" "" "" "00438244" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "Netherlands" "" "0" "" "refractory response to epilepsy treatment" "" "Pat1" "00438245" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "symptom-free after epilepsy treatment" "" "Pat2" "00438246" "" "" "" "1" "" "04362" "{PMID:Karaca 2018:29790871}" "" "" "" "" "" "0" "" "" "" "" "00438247" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "M" "" "" "" "0" "" "" "" "" "00438248" "" "" "" "1" "" "04362" "{PMID:Gerald 2018:29961512}" "" "F" "" "" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438249" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "" "" "" "00438250" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "F" "" "" "" "0" "" "" "" "" "00438251" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "" "" "0" "" "" "" "" "00438252" "" "" "" "1" "" "04362" "Shah 2022, ISPMD" "" "M" "" "" "" "0" "" "refractory response to epilepsy treatment" "" "" "00438253" "" "" "" "1" "" "04362" "{PMID:Kim 2020:33298085}" "" "M" "" "" "" "0" "" "" "" "" "00438254" "" "" "" "1" "" "04362" "{PMID:Caswell, 2022:35869530}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00438255" "" "" "" "1" "" "04362" "{PMID:Thiel 2023:37225406}" "" "" "" "Germany" "" "0" "" "" "" "" "00438256" "" "" "" "1" "" "04362" "{PMID:Kim 2020:33298085}" "" "F" "" "" "" "0" "" "" "" "" "00438257" "" "" "" "1" "" "04362" "{PMID:Kelly 2019:30682224}" "" "F" "" "" "" "0" "" "" "" "" "00438258" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "M" "" "" "" "0" "" "" "" "" "00438259" "" "" "" "1" "" "04362" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "F" "" "" "" "0" "" "" "" "" "00438263" "" "" "" "1" "" "04362" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat95" "00438264" "" "" "" "1" "" "04362" "{PMID:Fernandez-Marmiesse 2019:31780880}" "" "M" "" "Spain" "" "0" "" "" "" "" "00438266" "" "" "" "3" "" "04362" "{PMID:Vasconcellos 2023:37034444}" "3-generation family, affected borther/sister/mother" "M" "" "Brazil" "" "0" "" "" "" "FamPatII1" "00438267" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "F" "" "Spain" "" "0" "" "" "" "Pat1" "00438268" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "F" "" "Spain" "" "0" "" "" "" "Pat2" "00438269" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "F" "" "Spain" "" "0" "" "" "" "Pat3" "00438270" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "F" "" "Spain" "" "0" "" "" "" "Pat4" "00438271" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "F" "" "Spain" "" "0" "" "" "" "Pat5" "00438272" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "M" "" "Spain" "" "0" "" "" "" "Pat7" "00438273" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "M" "" "Spain" "" "0" "" "" "" "Pat8" "00438274" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "M" "" "Spain" "" "0" "" "" "" "Pat9" "00438275" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "M" "" "Spain" "" "0" "" "" "" "Pat10" "00438276" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "F" "" "Spain" "" "0" "" "" "" "Pat11" "00438277" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "F" "" "Spain" "" "0" "" "" "" "Pat12" "00438278" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "M" "" "Spain" "" "0" "" "" "" "Pat13" "00438279" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "M" "" "Spain" "" "0" "" "" "" "Pat14" "00438280" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "M" "" "Spain" "" "0" "" "" "" "Pat15" "00438281" "" "" "" "1" "" "00006" "{PMID:Domínguez-Carral 2023:37548038}" "" "F" "" "Spain" "" "0" "" "" "" "Pat16" "00438295" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat13" "00438299" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat17" "00438300" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat18" "00438306" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat24" "00438310" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat28" "00438323" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat41" "00438341" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat59" "00438342" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat60" "00438367" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat85" "00438368" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat86" "00438369" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat87" "00438373" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat91" "00438387" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat106" "00438405" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat124" "00438417" "" "" "" "1" "" "00006" "{PMID:Galosi 2023:37632268}" "" "M" "" "Italy" "" "0" "" "" "" "patient" "00438686" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0688" "00440376" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2375.1" "00453078" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat34" "00454724" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "" "M" "" "" "" "0" "" "" "" "NGSP89" "00455869" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat109" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 325 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00033854" "03912" "00033855" "03912" "00033856" "03959" "00033857" "03959" "00050443" "00198" "00050447" "00198" "00050474" "00198" "00089213" "00344" "00116923" "00000" "00164428" "00198" "00269903" "00198" "00299456" "00198" "00302969" "05521" "00302974" "05521" "00314878" "00198" "00403879" "05611" "00412962" "06906" "00412963" "06906" "00412964" "06906" "00412965" "06906" "00437994" "00198" "00437995" "00198" "00437996" "00198" "00437997" "00198" "00437998" "00198" "00437999" "00198" "00438000" "00198" "00438001" "00198" "00438002" "00198" "00438003" "00198" "00438004" "00198" "00438005" "00198" "00438006" "00198" "00438007" "00198" "00438008" "00198" "00438009" "00198" "00438010" "00198" "00438011" "00198" "00438012" "00198" "00438013" "00198" "00438014" "00198" "00438015" "00198" "00438016" "00198" "00438017" "00198" "00438018" "00198" "00438019" "00198" "00438020" "00198" "00438021" "00198" "00438022" "00198" "00438023" "00198" "00438024" "00198" "00438025" "00198" "00438026" "00198" "00438027" "00198" "00438028" "00198" "00438029" "00198" "00438030" "00198" "00438031" "00198" "00438032" "00198" "00438033" "00198" "00438034" "00198" "00438035" "00198" "00438036" "00198" "00438037" "00198" "00438038" "00198" "00438039" "00198" "00438040" "00198" "00438041" "00198" "00438042" "00198" "00438043" "00198" "00438044" "00198" "00438045" "00198" "00438046" "00198" "00438047" "00198" "00438048" "00198" "00438049" "00198" "00438050" "00198" "00438051" "00198" "00438052" "00198" "00438053" "00198" "00438054" "00198" "00438055" "00198" "00438056" "00198" "00438057" "00198" "00438058" "00198" "00438059" "00198" "00438060" "00198" "00438061" "00198" "00438062" "00198" "00438063" "00198" "00438064" "00198" "00438065" "00198" "00438066" "00198" "00438067" "00198" "00438068" "00198" "00438069" "00198" "00438070" "00198" "00438071" "00198" "00438072" "00198" "00438073" "00198" "00438074" "00198" "00438075" "00198" "00438076" "00198" "00438077" "00198" "00438078" "00198" "00438079" "00198" "00438080" "00198" "00438081" "00198" "00438082" "00198" "00438083" "00198" "00438084" "00198" "00438085" "00198" "00438086" "00198" "00438087" "00198" "00438088" "00198" "00438089" "00198" "00438090" "00198" "00438091" "00198" "00438092" "00198" "00438093" "00198" "00438094" "00198" "00438095" "00198" "00438096" "00198" "00438097" "00198" "00438098" "00198" "00438099" "00198" "00438100" "00198" "00438101" "00198" "00438102" "00198" "00438103" "00198" "00438104" "00198" "00438105" "00198" "00438106" "00198" "00438107" "00198" "00438108" "00198" "00438109" "00198" "00438110" "00198" "00438111" "00198" "00438112" "00198" "00438113" "00198" "00438114" "00198" "00438115" "00198" "00438116" "00198" "00438117" "00198" "00438118" "00198" "00438119" "00198" "00438120" "00198" "00438121" "00198" "00438122" "00198" "00438123" "00198" "00438124" "00198" "00438125" "00198" "00438126" "00198" "00438127" "00198" "00438128" "00198" "00438129" "00198" "00438130" "00198" "00438131" "00198" "00438132" "00198" "00438133" "00198" "00438134" "00198" "00438135" "00198" "00438136" "00198" "00438137" "00198" "00438138" "00198" "00438139" "00198" "00438140" "00198" "00438141" "00198" "00438142" "00198" "00438143" "00198" "00438144" "00198" "00438145" "00198" "00438146" "00198" "00438147" "00198" "00438148" "00198" "00438149" "00198" "00438150" "00198" "00438151" "00198" "00438152" "00198" "00438153" "00198" "00438154" "00198" "00438155" "00198" "00438156" "00198" "00438157" "00198" "00438158" "00198" "00438159" "00198" "00438160" "00198" "00438161" "00198" "00438162" "00198" "00438163" "00198" "00438164" "00198" "00438165" "00198" "00438166" "00198" "00438167" "00198" "00438168" "00198" "00438169" "00198" "00438170" "00198" "00438171" "00198" "00438172" "00198" "00438173" "00198" "00438174" "00198" "00438175" "00198" "00438176" "00198" "00438177" "00198" "00438178" "00198" "00438179" "00198" "00438180" "00198" "00438181" "00198" "00438182" "00198" "00438183" "00198" "00438184" "00198" "00438185" "00198" "00438186" "00198" "00438187" "00198" "00438188" "00198" "00438189" "00198" "00438190" "00198" "00438191" "00198" "00438192" "00198" "00438193" "00198" "00438194" "00198" "00438195" "00198" "00438196" "00198" "00438197" "00198" "00438198" "00198" "00438199" "00198" "00438200" "00198" "00438201" "00198" "00438202" "00198" "00438203" "00198" "00438204" "00198" "00438205" "00198" "00438206" "00198" "00438207" "00198" "00438208" "00198" "00438209" "00198" "00438210" "00198" "00438211" "00198" "00438212" "00198" "00438213" "00198" "00438214" "00198" "00438215" "00198" "00438216" "00198" "00438217" "00198" "00438218" "00198" "00438219" "00198" "00438220" "00198" "00438221" "00198" "00438222" "00198" "00438223" "00198" "00438224" "00198" "00438225" "00198" "00438226" "00198" "00438227" "00198" "00438228" "00198" "00438229" "00198" "00438230" "00198" "00438231" "00198" "00438232" "00198" "00438233" "00198" "00438234" "00198" "00438235" "00198" "00438236" "00198" "00438237" "00198" "00438238" "00198" "00438239" "00198" "00438240" "00198" "00438241" "00198" "00438242" "00198" "00438243" "00198" "00438244" "00198" "00438245" "00198" "00438246" "00198" "00438247" "00198" "00438248" "00198" "00438249" "00198" "00438250" "00198" "00438251" "00198" "00438252" "00198" "00438253" "00198" "00438254" "00198" "00438255" "00198" "00438256" "00198" "00438257" "00198" "00438258" "00198" "00438259" "00198" "00438263" "00198" "00438264" "00198" "00438266" "00198" "00438267" "00198" "00438268" "00198" "00438269" "00198" "00438270" "00198" "00438271" "00198" "00438272" "00198" "00438273" "00198" "00438274" "00198" "00438275" "00198" "00438276" "00198" "00438277" "00198" "00438278" "00198" "00438279" "00198" "00438280" "00198" "00438281" "00198" "00438295" "04270" "00438299" "04270" "00438300" "04270" "00438306" "04270" "00438310" "04270" "00438323" "04270" "00438341" "04270" "00438342" "04270" "00438367" "04270" "00438368" "04270" "00438369" "04270" "00438373" "04270" "00438387" "04270" "00438405" "04270" "00438417" "05521" "00438686" "06906" "00440376" "00198" "00453078" "05611" "00454724" "05534" "00455869" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00344, 01157, 03912, 03959, 04270, 05521, 05534, 05611, 06299, 06906 ## Count = 324 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000027252" "03912" "00033854" "00111" "Isolated (sporadic)" "" "movement disorder; developmental epileptic encephalopathy; 2m-onset epilepsy; structural changes brain, atrophy, thinned corpus callosum; severe developmental delay; no speech" "00y02m" "" "" "" "" "" "" "" "" "" "" "0000027253" "03912" "00033855" "00111" "Isolated (sporadic)" "" "movement disorder; developmental epileptic encephalopathy; 7d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; severe developmental delay; no speech" "00y00m" "" "" "" "" "" "" "" "" "" "" "0000027254" "03959" "00033857" "00111" "Isolated (sporadic)" "" "4y-onset movement disorder; 10y-11y-onset epilepsy; structural changes brain, atrophy, thinned corpus callosum; severe developmental delay; affected speech" "00y07m" "" "" "" "" "" "" "" "" "" "" "0000027255" "03959" "00033856" "00111" "Isolated (sporadic)" "" "movement disorder; no structural changes brain; severe developmental delay; no speech" "00y04m" "" "" "" "" "" "" "" "" "" "" "0000037055" "00198" "00050443" "00006" "Isolated (sporadic)" "" "excessive salivation, truncal ataxia, spastic diplegia, neurological speech impairment, cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "0000037059" "00198" "00050447" "00006" "Isolated (sporadic)" "" "intellectual disability profound, feeding difficulties in infancy" "" "" "" "" "" "" "" "" "" "" "" "0000037086" "00198" "00050474" "00006" "Isolated (sporadic)" "" "coarctation of aorta, global developmental delay, chorea, absent speech" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000068603" "00344" "00089213" "00006" "Isolated (sporadic)" "" "movement disorder; developmental epileptic encephalopathy; 9d-onset epilepsy; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000129487" "00198" "00164428" "01807" "Unknown" "" "HP:0100021 (Cerebral palsy)" "" "" "" "" "" "" "" "" "" "" "" "0000207699" "00198" "00269903" "01807" "Unknown" "" "Seizures (HP:0001250); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hyperactivity (HP:0000752); Strabismus (HP:0000486); Tics (HP:0100033)" "" "" "" "" "" "" "" "" "" "" "" "0000226766" "00198" "00299456" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Hemiparesis (HP:0001269); Developmental regression (HP:0002376); Infantile axial hypotonia (HP:0009062)" "" "" "" "" "" "" "" "" "" "" "" "0000230052" "05521" "00302969" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230057" "05521" "00302974" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset childhood" "" "" "" "" "" "" "" "" "" "seizures" "" "0000238636" "00198" "00314878" "00006" "Isolated (sporadic)" "07y" "movement disorder; epilepsy; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000296559" "05611" "00403879" "00006" "Isolated (sporadic)" "" "movement disorder; epilepsy; developmental delay; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000304948" "06906" "00412962" "00006" "Isolated (sporadic)" "13y" "4d-tonic seizure; 4d-suppression-burst pattern; 5y-tonic seizure; EEG-1y4m-multifocal sharp waves, 5y6m-suppression-burst pattern; no involuntary movement; seizure control intractable (2-3 times per day); no head control; not sitting; no speech; MRI 1m-normal, 5y6m-cerebral atrophy" "" "" "" "" "" "" "" "" "DEE17" "Ohtahara syndrome" "" "0000304949" "06906" "00412963" "00006" "Isolated (sporadic)" "4y1m" "29d-series of tonic seizures (tonic upgaze, head nodding, extension of all extremities); 29d-suppression-burst pattern; 9m-series of tonic seizures; EEG 3m-hypsarrhythmia, 1y7m-diffuse spike-and-slow-wave complex, 3y9m-sharp waves at frontal lobe; no involuntary movement; seizure control intractable (0-2 times per day); head control; not sitting; no speech; MRI 10m-delayed myelination, thin corpus callosum" "" "" "" "" "" "" "" "" "DEE17" "Ohtahara syndrome" "" "0000304950" "06906" "00412964" "00006" "Isolated (sporadic)" "11m" "2w-series of tonic seizures (resemble spasms); 2w-suppression-burst pattern; 10m-tonic seizure; EEG 4m-hypsarrhythmia; dystonia; seizure control intractable; no head control; not sitting; no speech; MRI 3m-normal" "" "" "" "" "" "" "" "" "DEE17" "Ohtahara syndrome" "" "0000304951" "06906" "00412965" "00006" "Isolated (sporadic)" "8y" "7m-opisthotonic posture, developmental delay; 5y-diffuse irregular spike-and-slow-wave complex; 5y-focal seizure (tonic upgaze), tonic seizure; severe chorea, athetosis; seizure control intractabl (several times per day); no head control; not sitting; no speech; MRI 1y3m-delayed myelination, 4y8m-reduced cerebral white matter, thin corpus callosum" "" "" "" "" "" "" "" "" "DEE17" "epileptic encephalopathy" "" "0000327898" "00198" "00437994" "04362" "Unknown" "" "12y-onset movement disorder; 4y-onset epilepsy; no structural changes brain; no hypotonia; mild developmental delay; normal speech" "" "" "" "" "" "" "" "" "" "" "" "0000327899" "00198" "00437995" "04362" "Unknown" "" "movement disorder; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327900" "00198" "00437996" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 6d-onset epilepsy; structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327901" "00198" "00437997" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 4d-onset epilepsy; no structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327902" "00198" "00437998" "04362" "Unknown" "" "developmental epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000327903" "00198" "00437999" "04362" "Unknown" "" "3y-onset movement disorder; developmental epileptic encephalopathy; 2m-onset epilepsy; structural changes brain, microcephaly, thinned corpus callosum; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327904" "00198" "00438000" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 2m15d-onset epilepsy; structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327905" "00198" "00438001" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327906" "00198" "00438002" "04362" "Unknown" "" "developmental epileptic encephalopathy; ; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327907" "00198" "00438003" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327908" "00198" "00438004" "04362" "Unknown" "" "developmental epileptic encephalopathy; 4m-onset epilepsy; structural changes brain; hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327909" "00198" "00438005" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 0h-onset epilepsy; no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327910" "00198" "00438006" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327911" "00198" "00438007" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 35d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327912" "00198" "00438008" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 1d-onset epilepsy; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327913" "00198" "00438009" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 2h-onset epilepsy; structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327914" "00198" "00438010" "04362" "Unknown" "" "4y-onset movement disorder; no structural changes brain; no hypotonia; moderate developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327915" "00198" "00438011" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327916" "00198" "00438012" "04362" "Unknown" "" "developmental epileptic encephalopathy; 4d-onset epilepsy; structural changes brain, microcephaly, atrophy; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327917" "00198" "00438013" "04362" "Unknown" "" "deceased; developmental epileptic encephalopathy; 1d-onset epilepsy; no structural changes brain; hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327918" "00198" "00438014" "04362" "Unknown" "" "28m-onset movement disorder; no structural changes brain; hypotonia; no developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327919" "00198" "00438015" "04362" "Unknown" "" "4m-onset movement disorder; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327920" "00198" "00438016" "04362" "Unknown" "" "deceased; 4m-onset movement disorder; 3y-onset epilepsy; structural changes brain, thinned corpus callosum; hypotonia; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327921" "00198" "00438017" "04362" "Unknown" "" "movement disorder; no structural changes brain; hypotonia; moderate developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327922" "00198" "00438018" "04362" "Unknown" "" "deceased; movement disorder; developmental epileptic encephalopathy; hypotonia; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327923" "00198" "00438019" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327924" "00198" "00438020" "04362" "Unknown" "" "deceased; movement disorder; developmental epileptic encephalopathy; 1m15d-onset epilepsy; structural changes brain, altered (de)myelination; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327925" "00198" "00438021" "04362" "Unknown" "" "developmental delay; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327926" "00198" "00438022" "04362" "Unknown" "" "5y-onset movement disorder; 4y-onset epilepsy; structural changes brain; no hypotonia; moderate developmental delay; normal speech" "" "" "" "" "" "" "" "" "" "" "" "0000327927" "00198" "00438023" "04362" "Unknown" "" "neonatal onset movement disorder; movement disorder; epilepsy; developmental delay; <0d-onset epilepsy; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327928" "00198" "00438024" "04362" "Unknown" "" "deceased; movement disorder; developmental epileptic encephalopathy; <0d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; hypotonia; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327929" "00198" "00438025" "04362" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000327930" "00198" "00438026" "04362" "Unknown" "" "epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000327931" "00198" "00438027" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; 1d-onset epilepsy; no structural changes brain; hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327932" "00198" "00438028" "04362" "Unknown" "" "epilepsy; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327933" "00198" "00438029" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327934" "00198" "00438030" "04362" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000327935" "00198" "00438031" "04362" "Unknown" "" "deceased; 8m-onset movement disorder; 3m-onset epilepsy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327936" "00198" "00438032" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; structural changes brain, microcephaly; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327937" "00198" "00438033" "04362" "Unknown" "" "12y-onset movement disorder; epilepsy; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327938" "00198" "00438034" "04362" "Unknown" "" "movement disorder; epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000327939" "00198" "00438035" "04362" "Unknown" "" "deceased; 3m-onset movement disorder; epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327940" "00198" "00438036" "04362" "Unknown" "" "3m-onset movement disorder; epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327941" "00198" "00438037" "04362" "Unknown" "" "hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327942" "00198" "00438038" "04362" "Unknown" "" "movement disorder" "" "" "" "" "" "" "" "" "" "" "" "0000327943" "00198" "00438039" "04362" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000327944" "00198" "00438040" "04362" "Unknown" "" "epilepsy; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327945" "00198" "00438041" "04362" "Isolated (sporadic)" "07y07m" "deceased; 3m-onset movement disorder; developmental epileptic encephalopathy; 3d-onset epilepsy; structural changes brain, microcephaly, atrophy, thinned corpus callosum, altered (de)myelination; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "encephalopathy" "" "0000327946" "00198" "00438042" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 4d-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000327947" "00198" "00438043" "04362" "Unknown" "" "16m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 2d-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000327948" "00198" "00438044" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; 1m-onset epilepsy; structural changes brain, atrophy; no hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327949" "00198" "00438045" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 1m-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000327950" "00198" "00438046" "04362" "Unknown" "" "epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000327951" "00198" "00438047" "04362" "Unknown" "" "18m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 1m15d-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327952" "00198" "00438048" "04362" "Unknown" "" "1d-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <1d-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327953" "00198" "00438049" "04362" "Unknown" "" "<1y-onset movement disorder; 3y-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327954" "00198" "00438050" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 5h-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327955" "00198" "00438051" "04362" "Unknown" "" "epilepsy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327956" "00198" "00438052" "04362" "Unknown" "" "epilepsy; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327957" "00198" "00438053" "04362" "Unknown" "" "deceased; 3m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 3d-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000327958" "00198" "00438054" "04362" "Unknown" "" "<1y-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 1m15d-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000327959" "00198" "00438055" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 14d-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000327960" "00198" "00438056" "04362" "Unknown" "" "movement disorder" "" "" "" "" "" "" "" "" "" "" "" "0000327961" "00198" "00438057" "04362" "Unknown" "" "11m-onset movement disorder; developmental epileptic encephalopathy; 1d-onset epilepsy; structural changes brain, thinned corpus callosum; hypotonia; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327962" "00198" "00438058" "04362" "Unknown" "" "2y-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 12d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327963" "00198" "00438059" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 3m-onset epilepsy; structural changes brain, atrophy, thinned corpus callosum; no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327964" "00198" "00438060" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 9d-onset epilepsy; structural changes brain, atrophy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327965" "00198" "00438061" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327966" "00198" "00438062" "04362" "Unknown" "" "deceased; developmental epileptic encephalopathy; developmental delay; no structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327967" "00198" "00438063" "04362" "Unknown" "" "deceased; movement disorder; developmental epileptic encephalopathy; 12d-onset epilepsy; no structural changes brain; hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327968" "00198" "00438064" "04362" "Unknown" "" "deceased; 02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327969" "00198" "00438065" "04362" "Unknown" "" "deceased; 02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327970" "00198" "00438066" "04362" "Unknown" "" "02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327971" "00198" "00438067" "04362" "Unknown" "" "02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327972" "00198" "00438068" "04362" "Unknown" "" "02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327973" "00198" "00438069" "04362" "Unknown" "" "02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327974" "00198" "00438070" "04362" "Unknown" "" "deceased; 4m-onset movement disorder; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327975" "00198" "00438071" "04362" "Unknown" "" "4y-onset movement disorder; 1y-onset epilepsy; developmental delay; structural changes brain, microcephaly, atrophy, thinned corpus callosum; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327976" "00198" "00438072" "04362" "Unknown" "" "9y-onset movement disorder; 21d-onset epilepsy; developmental delay; structural changes brain, atrophy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000327977" "00198" "00438073" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 1m-onset epilepsy; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327978" "00198" "00438074" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 7d-onset epilepsy; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327979" "00198" "00438075" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 2m-onset epilepsy; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327980" "00198" "00438076" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 1m-onset epilepsy; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327981" "00198" "00438077" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 1m-onset epilepsy; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327982" "00198" "00438078" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 1m-onset epilepsy; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327983" "00198" "00438079" "04362" "Unknown" "" "4y-onset movement disorder; 6m-onset epilepsy; developmental delay; structural changes brain, atrophy; no hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327984" "00198" "00438080" "04362" "Unknown" "" "4y-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 2y-onset epilepsy; structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327985" "00198" "00438081" "04362" "Unknown" "" "deceased; 9y-onset movement disorder; developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327986" "00198" "00438082" "04362" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000327987" "00198" "00438083" "04362" "Unknown" "" "15y-onset movement disorder; no structural changes brain; no hypotonia; no developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327988" "00198" "00438084" "04362" "Unknown" "" "47y-onset movement disorder; no structural changes brain; no hypotonia; no developmental delay; normal speech" "" "" "" "" "" "" "" "" "" "" "" "0000327989" "00198" "00438085" "04362" "Unknown" "" "30y-onset movement disorder; no structural changes brain; no hypotonia; no developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327990" "00198" "00438086" "04362" "Unknown" "" "2y-onset movement disorder; developmental delay; no structural changes brain; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327991" "00198" "00438087" "04362" "Unknown" "" "3y-onset movement disorder; developmental delay; no structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327992" "00198" "00438088" "04362" "Unknown" "" "movement disorder; developmental delay; no structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327993" "00198" "00438089" "04362" "Unknown" "" "5y-onset movement disorder; no structural changes brain; hypotonia; no developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000327994" "00198" "00438090" "04362" "Unknown" "" "movement disorder" "" "" "" "" "" "" "" "" "" "" "" "0000327995" "00198" "00438091" "04362" "Unknown" "" "deceased; 46m-onset movement disorder; developmental delay; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000327996" "00198" "00438092" "04362" "Unknown" "" "movement disorder; no structural changes brain; hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000327997" "00198" "00438093" "04362" "Unknown" "" "movement disorder" "" "" "" "" "" "" "" "" "" "" "" "0000327998" "00198" "00438094" "04362" "Unknown" "" "movement disorder" "" "" "" "" "" "" "" "" "" "" "" "0000327999" "00198" "00438095" "04362" "Unknown" "" "4y-onset movement disorder; 2y-onset epilepsy; developmental delay; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328000" "00198" "00438096" "04362" "Unknown" "" "7m-onset movement disorder; 2y-onset epilepsy; no structural changes brain; no hypotonia; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328001" "00198" "00438097" "04362" "Unknown" "" "9y-onset movement disorder; 6y-onset epilepsy; structural changes brain, microcephaly, thinned corpus callosum; hypotonia; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328002" "00198" "00438098" "04362" "Unknown" "" "4m-onset movement disorder; epilepsy; no structural changes brain; hypotonia; moderate developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328003" "00198" "00438099" "04362" "Unknown" "" "; neonatal onset movement disorder; developmental delay; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328004" "00198" "00438100" "04362" "Unknown" "" "movement disorder; epilepsy; developmental delay; <0d-onset epilepsy; structural changes brain, atrophy; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328005" "00198" "00438101" "04362" "Unknown" "" "4m-onset movement disorder; epilepsy; developmental delay; structural changes brain, atrophy, altered (de)myelination; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328006" "00198" "00438102" "04362" "Unknown" "" "6y-onset movement disorder; epilepsy; developmental delay; structural changes brain, atrophy; no hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328007" "00198" "00438103" "04362" "Unknown" "" "11y-onset movement disorder; 10y-onset epilepsy; developmental delay; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328008" "00198" "00438104" "04362" "Unknown" "" "deceased; movement disorder; no structural changes brain; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328009" "00198" "00438105" "04362" "Unknown" "" "17m-onset movement disorder; structural changes brain; hypotonia; moderate developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328010" "00198" "00438106" "04362" "Unknown" "" "no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328011" "00198" "00438107" "04362" "Unknown" "" "hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328012" "00198" "00438108" "04362" "Unknown" "" "10y-onset movement disorder; 8y-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328013" "00198" "00438109" "04362" "Unknown" "" "8y-onset movement disorder; structural changes brain, microcephaly, atrophy, altered (de)myelination; hypotonia; severe developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328014" "00198" "00438110" "04362" "Unknown" "" "1y-onset movement disorder; epilepsy; developmental delay; no structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328015" "00198" "00438111" "04362" "Isolated (sporadic)" "" "<2y-onset movement disorder, generalized dystonia; dystonic cerebral palsy" "" "" "" "" "" "" "" "" "NEDIM" "dystonia" "" "0000328016" "00198" "00438112" "04362" "Unknown" "" "3m-onset movement disorder; structural changes brain, thinned corpus callosum; no hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328017" "00198" "00438113" "04362" "Unknown" "" "1y-onset movement disorder; 8m-onset epilepsy; structural changes brain, microcephaly, altered (de)myelination; hypotonia; severe developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328018" "00198" "00438114" "04362" "Unknown" "" "<1y-onset movement disorder; 4y-onset epilepsy; developmental delay; no structural changes brain; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328019" "00198" "00438115" "04362" "Unknown" "" "1y-onset movement disorder; no structural changes brain; hypotonia; severe developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328020" "00198" "00438116" "04362" "Unknown" "" "6m-onset movement disorder; structural changes brain; no hypotonia; moderate developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328021" "00198" "00438117" "04362" "Unknown" "" "3y-onset movement disorder; structural changes brain, atrophy; hypotonia; moderate developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328022" "00198" "00438118" "04362" "Unknown" "" "6m-onset movement disorder; developmental delay; structural changes brain, atrophy, altered (de)myelination, thinned corpus callosum; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328023" "00198" "00438119" "04362" "Unknown" "" "10m-onset movement disorder; developmental delay; no structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328024" "00198" "00438120" "04362" "Unknown" "" "34m-onset movement disorder; epilepsy; developmental delay; no structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328025" "00198" "00438121" "04362" "Unknown" "" "18m-onset movement disorder; developmental delay; no structural changes brain; no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328026" "00198" "00438122" "04362" "Unknown" "" "15m-onset movement disorder; developmental delay; no structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328027" "00198" "00438123" "04362" "Unknown" "" "movement disorder" "" "" "" "" "" "" "" "" "" "" "" "0000328028" "00198" "00438124" "04362" "Unknown" "" "18m-onset movement disorder; developmental delay; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328029" "00198" "00438125" "04362" "Isolated (sporadic)" "" "<2y-onset movement disorder; developmental delay; focal dystonia" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000328030" "00198" "00438126" "04362" "Unknown" "" "movement disorder; developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328031" "00198" "00438127" "04362" "Unknown" "" "5y-onset movement disorder; developmental delay; structural changes brain, atrophy; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328032" "00198" "00438128" "04362" "Unknown" "" "4m-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328033" "00198" "00438129" "04362" "Unknown" "" "<2y-onset movement disorder; epilepsy; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328034" "00198" "00438130" "04362" "Unknown" "" "18m-onset movement disorder; developmental delay; structural changes brain, atrophy; no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328035" "00198" "00438131" "04362" "Unknown" "" "movement disorder; developmental delay; no structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328036" "00198" "00438132" "04362" "Unknown" "" "10y-onset movement disorder; no structural changes brain; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328037" "00198" "00438133" "04362" "Unknown" "" "movement disorder; epilepsy; structural changes brain; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328038" "00198" "00438134" "04362" "Unknown" "" "12y-onset movement disorder; no structural changes brain; no developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328039" "00198" "00438135" "04362" "Unknown" "" "3y-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328040" "00198" "00438136" "04362" "Unknown" "" "5y-onset movement disorder; no structural changes brain; no hypotonia; no developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328041" "00198" "00438137" "04362" "Unknown" "" "6y-onset movement disorder; no structural changes brain; no hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328042" "00198" "00438138" "04362" "Unknown" "" "6y-onset movement disorder; no structural changes brain; no hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328043" "00198" "00438139" "04362" "Unknown" "" "9m-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328044" "00198" "00438140" "04362" "Unknown" "" "movement disorder; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328045" "00198" "00438141" "04362" "Unknown" "" "movement disorder; <0d-onset epilepsy; no structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328046" "00198" "00438142" "04362" "Unknown" "" "2m-onset movement disorder; <5m-onset epilepsy; structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328047" "00198" "00438143" "04362" "Unknown" "" "movement disorder; epilepsy; no structural changes brain; hypotonia; severe developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328048" "00198" "00438144" "04362" "Unknown" "" "developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328049" "00198" "00438145" "04362" "Unknown" "" "movement disorder; epilepsy; 1m-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000328050" "00198" "00438146" "04362" "Unknown" "" "epilepsy; 7d-onset epilepsy; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328051" "00198" "00438147" "04362" "Unknown" "" "epilepsy; developmental delay; 1m-onset epilepsy; structural changes brain, microcephaly; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328052" "00198" "00438148" "04362" "Unknown" "" "deceased; developmental epileptic encephalopathy; developmental delay; 2d-onset epilepsy; no structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328053" "00198" "00438149" "04362" "Unknown" "" "; movement disorder; developmental epileptic encephalopathy; 1m15d; Abnormal (MY); hypotonia; Present (Moderate)" "" "" "" "" "" "" "" "" "" "" "" "0000328054" "00198" "00438150" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 5d-onset epilepsy; structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328055" "00198" "00438151" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; 3m-onset epilepsy; structural changes brain, atrophy, altered (de)myelination, thinned corpus callosum; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328056" "00198" "00438152" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; 3d-onset epilepsy; structural changes brain; hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328057" "00198" "00438153" "04362" "Unknown" "" "2m-onset movement disorder; 5y-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328058" "00198" "00438154" "04362" "Unknown" "" "movement disorder; epilepsy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328059" "00198" "00438155" "04362" "Unknown" "" "2y-onset movement disorder; no structural changes brain; hypotonia; no developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328060" "00198" "00438156" "04362" "Unknown" "" "deceased; movement disorder; hypotonia; no developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328061" "00198" "00438157" "04362" "Unknown" "" "<1d-onset epilepsy; structural changes brain, microcephaly; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328062" "00198" "00438158" "04362" "Unknown" "" "movement disorder; epilepsy; developmental delay; 5m-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000328063" "00198" "00438159" "04362" "Unknown" "" "<6m-onset movement disorder; no structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328064" "00198" "00438160" "04362" "Unknown" "" "3m-onset movement disorder; developmental delay; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328065" "00198" "00438161" "04362" "Unknown" "" "deceased; 4y-onset movement disorder; developmental delay; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328066" "00198" "00438162" "04362" "Unknown" "" "1y-onset movement disorder; no structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328067" "00198" "00438163" "04362" "Unknown" "" "movement disorder; developmental delay; no structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328068" "00198" "00438164" "04362" "Unknown" "" "movement disorder; developmental delay; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328069" "00198" "00438165" "04362" "Unknown" "" "movement disorder; developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328070" "00198" "00438166" "04362" "Unknown" "" "4y-onset movement disorder; developmental delay; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328071" "00198" "00438167" "04362" "Unknown" "" "movement disorder" "" "" "" "" "" "" "" "" "" "" "" "0000328072" "00198" "00438168" "04362" "Unknown" "" "16m-onset movement disorder; structural changes brain, altered (de)myelination; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328073" "00198" "00438169" "04362" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328074" "00198" "00438170" "04362" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328075" "00198" "00438171" "04362" "Unknown" "" "movement disorder; developmental delay; structural changes brain, atrophy; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328076" "00198" "00438172" "04362" "Unknown" "" "movement disorder; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328077" "00198" "00438173" "04362" "Isolated (sporadic)" "" "movement disorder; severe developmental delay; <2y onset; generalized dystonia" "" "" "" "" "" "" "" "" "NEDIM" "dystonia" "" "0000328078" "00198" "00438174" "04362" "Unknown" "" "movement disorder; structural changes brain; hypotonia; moderate developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328079" "00198" "00438175" "04362" "Unknown" "" "3y-onset movement disorder; hypotonia; no developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328080" "00198" "00438176" "04362" "Unknown" "" "deceased; 8m-onset movement disorder; structural changes brain, microcephaly, atrophy; hypotonia; severe developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328081" "00198" "00438177" "04362" "Unknown" "" "<1y-onset movement disorder; no structural changes brain; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328082" "00198" "00438178" "04362" "Unknown" "" "3y-onset movement disorder; developmental delay; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328083" "00198" "00438179" "04362" "Unknown" "" "1m-onset movement disorder; developmental delay; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328084" "00198" "00438180" "04362" "Unknown" "" "1y-onset movement disorder; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328085" "00198" "00438181" "04362" "Unknown" "" "movement disorder; no developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328086" "00198" "00438182" "04362" "Unknown" "" "movement disorder; developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328087" "00198" "00438183" "04362" "Unknown" "" "2y-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328088" "00198" "00438184" "04362" "Unknown" "" "3y-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328089" "00198" "00438185" "04362" "Unknown" "" "movement disorder; developmental delay; no structural changes brain; no hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328090" "00198" "00438186" "04362" "Unknown" "" "movement disorder; developmental delay; no structural changes brain; no hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328091" "00198" "00438187" "04362" "Unknown" "" "movement disorder; developmental delay; no structural changes brain; no hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328092" "00198" "00438188" "04362" "Unknown" "" "4y-onset movement disorder; no structural changes brain; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328093" "00198" "00438189" "04362" "Unknown" "" "5y-onset movement disorder; no structural changes brain; no hypotonia; moderate developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328094" "00198" "00438190" "04362" "Unknown" "" "5y-onset movement disorder; no structural changes brain; no hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328095" "00198" "00438191" "04362" "Unknown" "" "7y-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328096" "00198" "00438192" "04362" "Unknown" "" "7y-onset movement disorder; no structural changes brain; no hypotonia; moderate developmental delay; normal speech" "" "" "" "" "" "" "" "" "" "" "" "0000328097" "00198" "00438193" "04362" "Unknown" "" "11y-onset movement disorder; no structural changes brain; hypotonia; moderate developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328098" "00198" "00438194" "04362" "Unknown" "" "11y-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; normal speech" "" "" "" "" "" "" "" "" "" "" "" "0000328099" "00198" "00438195" "04362" "Unknown" "" "2y-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328100" "00198" "00438196" "04362" "Unknown" "" "5y-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328101" "00198" "00438197" "04362" "Unknown" "" "2y-onset movement disorder; no structural changes brain; no hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328102" "00198" "00438198" "04362" "Unknown" "" "6m-onset movement disorder; no structural changes brain; no hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328103" "00198" "00438199" "04362" "Unknown" "" "; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328104" "00198" "00438200" "04362" "Unknown" "" "movement disorder; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328105" "00198" "00438201" "04362" "Unknown" "" "11y-onset movement disorder; developmental delay; no structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328106" "00198" "00438202" "04362" "Unknown" "" "2y-onset movement disorder; developmental delay; no structural changes brain; no hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328107" "00198" "00438203" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328108" "00198" "00438204" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328109" "00198" "00438205" "04362" "Unknown" "" "4y-onset movement disorder; developmental delay; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328110" "00198" "00438206" "04362" "Unknown" "" "4y-onset movement disorder; developmental delay; structural changes brain, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328111" "00198" "00438207" "04362" "Unknown" "" "deceased; 6y-onset movement disorder; developmental delay; structural changes brain, microcephaly, atrophy; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328112" "00198" "00438208" "04362" "Unknown" "" "14y-onset movement disorder; developmental delay; structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328113" "00198" "00438209" "04362" "Unknown" "" "4m-onset movement disorder; developmental delay; structural changes brain, atrophy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328114" "00198" "00438210" "04362" "Unknown" "" "5m-onset movement disorder; 7m-onset epilepsy; developmental delay; structural changes brain, atrophy; no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328115" "00198" "00438211" "04362" "Unknown" "" "11m-onset movement disorder; no structural changes brain; hypotonia; no developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328116" "00198" "00438212" "04362" "Unknown" "" "16m-onset movement disorder; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328117" "00198" "00438213" "04362" "Unknown" "" "4y-onset movement disorder; structural changes brain, atrophy; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328118" "00198" "00438214" "04362" "Unknown" "" "11m-onset movement disorder; no hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328119" "00198" "00438215" "04362" "Unknown" "" "2y-onset movement disorder; structural changes brain, atrophy; hypotonia; severe developmental delay; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328120" "00198" "00438216" "04362" "Unknown" "" "deceased; structural changes brain, altered (de)myelination; hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328121" "00198" "00438217" "04362" "Unknown" "" "10m-onset movement disorder; developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328122" "00198" "00438218" "04362" "Unknown" "" "movement disorder; epilepsy; ; mild developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328123" "00198" "00438219" "04362" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328124" "00198" "00438220" "04362" "Unknown" "" "9m-onset movement disorder; developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328125" "00198" "00438221" "04362" "Unknown" "" "<1y-onset movement disorder; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328126" "00198" "00438222" "04362" "Unknown" "" "2y-onset movement disorder; epilepsy; developmental delay; structural changes brain; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328127" "00198" "00438223" "04362" "Unknown" "" "2y-onset movement disorder; 5y-onset epilepsy; developmental delay; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328128" "00198" "00438224" "04362" "Unknown" "" "1m-onset movement disorder; developmental delay; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328129" "00198" "00438225" "04362" "Unknown" "" "4m-onset movement disorder; developmental delay; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328130" "00198" "00438226" "04362" "Unknown" "" "5m-onset movement disorder; 10m-onset epilepsy; structural changes brain; hypotonia; severe developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328131" "00198" "00438227" "04362" "Unknown" "" "4m-onset movement disorder; developmental delay; structural changes brain; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328132" "00198" "00438228" "04362" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328133" "00198" "00438229" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 3m-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000328134" "00198" "00438230" "04362" "Unknown" "" "2y-onset movement disorder; 10y-onset epilepsy; structural changes brain, atrophy; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328135" "00198" "00438231" "04362" "Unknown" "" "6y-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328136" "00198" "00438232" "04362" "Unknown" "" "6y-onset movement disorder; epilepsy; no structural changes brain; no hypotonia; no developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328137" "00198" "00438233" "04362" "Unknown" "" "16y-onset movement disorder; no structural changes brain; no hypotonia; no developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328138" "00198" "00438234" "04362" "Unknown" "" "developmental epileptic encephalopathy; 3m-onset epilepsy; structural changes brain, atrophy; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328139" "00198" "00438235" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328140" "00198" "00438236" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; 9d-onset epilepsy; no structural changes brain; hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328141" "00198" "00438237" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; 2d-onset epilepsy; no structural changes brain; hypotonia; moderate developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328142" "00198" "00438238" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 2d-onset epilepsy; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328143" "00198" "00438239" "04362" "Unknown" "" "26m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 2d-onset epilepsy; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328144" "00198" "00438240" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 3d-onset epilepsy; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328145" "00198" "00438241" "04362" "Unknown" "" "developmental epileptic encephalopathy; ; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328146" "00198" "00438242" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 7m-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000328147" "00198" "00438243" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 2m-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000328148" "00198" "00438244" "04362" "Unknown" "08y" "movement disorder, 8y-dystonia; developmental epileptic encephalopathy; developmental delay; 2d-onset epilepsy; structural changes brain; hypotonia" "00y00m02d" "" "seizure" "" "" "" "" "" "" "" "" "0000328149" "00198" "00438245" "04362" "Unknown" "08y" "movement disorder, 8y-dystonia; developmental epileptic encephalopathy; developmental delay; 2d-onset epilepsy; no structural changes brain; hypotonia" "00y00m02d" "" "seizure" "" "" "" "" "" "" "seizure" "" "0000328150" "00198" "00438246" "04362" "Unknown" "" "movement disorder; epilepsy; developmental delay; structural changes brain, microcephaly; no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328151" "00198" "00438247" "04362" "Unknown" "" "movement disorder; developmental epileptic encephalopathy; developmental delay; 1d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328152" "00198" "00438248" "04362" "Unknown" "" "developmental epileptic encephalopathy; 11d-onset epilepsy; structural changes brain, microcephaly, atrophy; hypotonia; severe developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328153" "00198" "00438249" "04362" "Unknown" "" "1m-onset movement disorder; developmental delay; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328154" "00198" "00438250" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay; 2m-onset epilepsy; no structural changes brain; hypotonia; no speech" "" "" "" "" "" "" "" "" "" "" "" "0000328155" "00198" "00438251" "04362" "Unknown" "" "15y-onset movement disorder; no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328156" "00198" "00438252" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328157" "00198" "00438253" "04362" "Unknown" "" "movement disorder; no structural changes brain; hypotonia; severe developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328158" "00198" "00438254" "04362" "Unknown" "" "movement disorder; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328159" "00198" "00438255" "04362" "Unknown" "" "15m-onset epilepsy; developmental delay; no structural changes brain; no hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328160" "00198" "00438256" "04362" "Unknown" "" "10d-onset movement disorder; developmental delay; no structural changes brain; no hypotonia; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328161" "00198" "00438257" "04362" "Unknown" "" "1y-onset movement disorder; no structural changes brain; hypotonia; mild developmental delay; affected speech" "" "" "" "" "" "" "" "" "" "" "" "0000328162" "00198" "00438258" "04362" "Unknown" "" "movement disorder; epilepsy; developmental delay; no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328163" "00198" "00438259" "04362" "Unknown" "" "7y-onset movement disorder; no hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000328167" "00198" "00438263" "04362" "Isolated (sporadic)" "" "HP:0001249 intellectual disability; HP:0001250 seizures; HP:0002540 inability to walk; HP:0002333 motor deterioration; HP:0001945 fever; HP:0012735 cough; HP:0003698 difficulty standing; HP:0002013 vomiting" "02y" "" "" "" "" "" "" "" "" "" "" "0000328168" "00198" "00438264" "04362" "Unknown" "" ">6y-onset movement disorder; 6y-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000328170" "00198" "00438266" "04362" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "dystonic cerebral palsy" "" "0000328171" "00198" "00438267" "00006" "Isolated (sporadic)" "8y8m" "see paper, ..., epilepsy; 6m-choreodystonia, stereotypies, no dyskinetic crisis; sits without support; no speech; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328172" "00198" "00438268" "00006" "Isolated (sporadic)" "4y8m" "see paper, ..., 18m-psychomotor developmental delay; 2y-dystonia, no dyskinetic crisis; Walks without support; no speech; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328173" "00198" "00438269" "00006" "Isolated (sporadic)" "11m" "see paper, ..., epilepsy, irritability; choreodystonia, stereotypies, no dyskinetic crisis; delayed motor development, no head control; no speech; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328174" "00198" "00438270" "00006" "Isolated (sporadic)" "12y2m" "see paper, ..., increased fetal movements; prenatal choreodystonia, dyskinetic crisis; delayed motor development, no head control; no speech; feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328175" "00198" "00438271" "00006" "Isolated (sporadic)" "3y" "see paper, ..., increased fetal movements; prenatal choreodystonia, dyskinetic crisis; delayed motor development, no head control; no speech; feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328176" "00198" "00438272" "00006" "Isolated (sporadic)" "8y1m" "see paper, ..., 19m-dystonia, psychomotor developmental delay; 17m-choreodystonia, dyskinetic crisis; walks without support; delayed speech, single words; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328177" "00198" "00438273" "00006" "Isolated (sporadic)" "12y6m" "see paper, ..., 5m-psychomotor developmental delay; dystonia, dyskinetic crisis; delayed motor development, no head control; no speech; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328178" "00198" "00438274" "00006" "Isolated (sporadic)" "3y7m" "see paper, ..., 12m-hypotonia, psychomotor developmental delay; 12m-choreodystonia, no dyskinetic crisis; walks without support; delayed speech, babbling; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328179" "00198" "00438275" "00006" "Isolated (sporadic)" "15y11m" "see paper, ..., 5m-episodes of facial redness during feeding; 12m-choreodystonia, stereotypies, dyskinetic crisis; walks without support; no speech; feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328180" "00198" "00438276" "00006" "Isolated (sporadic)" "3y11m" "see paper, ..., neonatal seizures; 3m-choreodystonia, dyskinetic crisis; delayed motor development, no head control; no speech; feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328181" "00198" "00438277" "00006" "Isolated (sporadic)" "11m" "see paper, ..., epilepsy; 6m-choreodystonia, no dyskinetic crisis; delayed motor development, no head control; delayed speech, babbling; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328182" "00198" "00438278" "00006" "Isolated (sporadic)" "1y3m" "see paper, ..., 2m-movement disorder; choreodystonia, dyskinetic crisis (daily); delayed motor development, no head control; delayed speech, guttural sounds; feeding difficulties, transpyloric tube" "" "" "" "" "" "" "" "" "" "" "" "0000328183" "00198" "00438279" "00006" "Isolated (sporadic)" "9y" "see paper, ..., 9m-dystonia/; 12m-choreodystonia, dyskinetic crisis; walks without support; delayed speech, dysarthric speech; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328184" "00198" "00438280" "00006" "Isolated (sporadic)" "11y6m" "see paper, ..., 12m-psychomotor developmental delay; 9m-choreodystonia, no dyskinetic crisis; walks without support; delayed speech, dysarthric speech; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328185" "00198" "00438281" "00006" "Isolated (sporadic)" "8y10m" "see paper, ..., 3m-irritability; 5m-choreodystonia, dyskinetic crisis; head control; delayed speech, 4-5 single words; no feeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000328199" "04270" "00438295" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001281 tetany" "5m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328203" "04270" "00438299" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001281 tetany; HP:0032217 indurated nodule" "1y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328204" "04270" "00438300" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0003739 myoclonic spasms; HP:0000707 abnormality of the nervous system" "9m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328210" "04270" "00438306" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001281 tetany" "7m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328214" "04270" "00438310" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0000951 abnormality of the skin; HP:0007565 multiple cafe-au-lait spots" "6m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328227" "04270" "00438323" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0000750 delayed speech and language development; HP:0001270 motor delay; HP:0040194 increased head circumference" "4y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328245" "04270" "00438341" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "5m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328246" "04270" "00438342" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "6m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328271" "04270" "00438367" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0000736 short attention span; HP:0001249 intellectual disability; HP:0002357 dysphasia; HP:0002373 febrile seizures; HP:0012520 perivascular spaces; HP:0012651 abasia; HP:0002333 motor deterioration; HP:0000726 dementia; HP:0001945 fever; HP:0011948 acute respiratory tract infection" "4y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328272" "04270" "00438368" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0012234 agranulocytosis" "1y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328273" "04270" "00438369" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002353 eeg abnormality; HP:0002373 febrile seizures" "4y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328277" "04270" "00438373" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002307 drooling; HP:0001249 intellectual disability; HP:0001254 lethargy; HP:0004305 involuntary movements; HP:0012704 widened subarachnoid space; HP:0002333 motor deterioration; HP:0001945 fever; HP:0003073 hypoalbuminemia; HP:0012387 bronchitis; HP:0002013 vomiting" "2y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328291" "04270" "00438387" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "25y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328309" "04270" "00438405" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002170 intracranial hemorrhage; HP:0002904 hyperbilirubinemia" "6m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328321" "05521" "00438417" "00006" "Isolated (sporadic)" "08y" "generalized tonic–clonic seizures during fever, mild language impairment, dystonic postures of lower limbs during walking, occasional tongue dyskinetic movement" "" "" "" "" "" "" "" "" "" "seizure" "" "0000328589" "06906" "00438686" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000330286" "00198" "00440376" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Early infantile epileptic encephalopathy-17 (MIM #615473)" "" "" "0000341723" "05611" "00453078" "00006" "Isolated (sporadic)" "19y5m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000343352" "05534" "00454724" "00095" "Unknown" "" "pshycomotor delay, dystonia, Leigh syndrome" "0y" "" "" "" "" "" "" "" "" "pyruvate dehydrogenase complex deficiency" "" "0000344402" "00198" "00455869" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "NEDIM" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 325 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000033921" "00033854" "1" "00111" "00111" "2015-03-07 04:06:48" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000033922" "00033855" "1" "00111" "00111" "2015-03-07 04:21:16" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000033923" "00033856" "1" "00111" "00111" "2015-03-07 04:34:15" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000033925" "00033857" "1" "00111" "00111" "2015-03-07 05:07:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000050388" "00050443" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050392" "00050447" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050419" "00050474" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000089359" "00089213" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000117391" "00116923" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000165295" "00164428" "1" "01807" "01807" "2018-05-17 16:07:05" "" "" "SEQ" "DNA" "" "" "0000271056" "00269903" "1" "01807" "01807" "2019-12-10 12:32:17" "" "" "SEQ" "DNA" "" "" "0000300566" "00299456" "1" "01807" "01807" "2020-04-17 09:53:01" "" "" "SEQ" "DNA" "" "" "0000304094" "00302969" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304099" "00302974" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000316052" "00314878" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000405117" "00403879" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414233" "00412962" "1" "00006" "00006" "2022-07-07 11:30:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414234" "00412963" "1" "00006" "00006" "2022-07-07 11:30:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414235" "00412964" "1" "00006" "00006" "2022-07-07 11:30:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414236" "00412965" "1" "00006" "00006" "2022-07-07 11:30:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000439475" "00437994" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439476" "00437995" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439477" "00437996" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439478" "00437997" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439479" "00437998" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439480" "00437999" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439481" "00438000" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439482" "00438001" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439483" "00438002" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439484" "00438003" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439485" "00438004" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439486" "00438005" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439487" "00438006" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439488" "00438007" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439489" "00438008" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439490" "00438009" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439491" "00438010" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439492" "00438011" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439493" "00438012" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439494" "00438013" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439495" "00438014" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439496" "00438015" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439497" "00438016" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439498" "00438017" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439499" "00438018" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439500" "00438019" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439501" "00438020" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439502" "00438021" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439503" "00438022" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439504" "00438023" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439505" "00438024" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439506" "00438025" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439507" "00438026" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439508" "00438027" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439509" "00438028" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439510" "00438029" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439511" "00438030" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439512" "00438031" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439513" "00438032" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439514" "00438033" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439515" "00438034" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439516" "00438035" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439517" "00438036" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439518" "00438037" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439519" "00438038" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439520" "00438039" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439521" "00438040" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439522" "00438041" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439523" "00438042" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439524" "00438043" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439525" "00438044" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439526" "00438045" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439527" "00438046" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439528" "00438047" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439529" "00438048" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439530" "00438049" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439531" "00438050" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" "0000439532" "00438051" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" "" 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"0000439573" "GNAO1" "0000439574" "GNAO1" "0000439575" "GNAO1" "0000439576" "GNAO1" "0000439577" "GNAO1" "0000439578" "GNAO1" "0000439579" "GNAO1" "0000439580" "GNAO1" "0000439581" "GNAO1" "0000439582" "GNAO1" "0000439583" "GNAO1" "0000439584" "GNAO1" "0000439585" "GNAO1" "0000439586" "GNAO1" "0000439587" "GNAO1" "0000439588" "GNAO1" "0000439589" "GNAO1" "0000439590" "GNAO1" "0000439591" "GNAO1" "0000439592" "GNAO1" "0000439593" "GNAO1" "0000439594" "GNAO1" "0000439595" "GNAO1" "0000439596" "GNAO1" "0000439597" "GNAO1" "0000439598" "GNAO1" "0000439599" "GNAO1" "0000439600" "GNAO1" "0000439601" "GNAO1" "0000439602" "GNAO1" "0000439603" "GNAO1" "0000439604" "GNAO1" "0000439605" "GNAO1" "0000439606" "GNAO1" "0000439607" "GNAO1" "0000439608" "GNAO1" "0000439609" "GNAO1" "0000439610" "GNAO1" "0000439611" "GNAO1" "0000439612" "GNAO1" "0000439613" "GNAO1" "0000439614" "GNAO1" "0000439615" "GNAO1" "0000439616" "GNAO1" "0000439617" "GNAO1" "0000439618" "GNAO1" "0000439619" "GNAO1" "0000439620" "GNAO1" "0000439621" "GNAO1" "0000439622" "GNAO1" "0000439623" "GNAO1" "0000439624" "GNAO1" "0000439625" "GNAO1" "0000439626" "GNAO1" "0000439627" "GNAO1" "0000439628" "GNAO1" "0000439629" "GNAO1" "0000439630" "GNAO1" "0000439631" "GNAO1" "0000439632" "GNAO1" "0000439633" "GNAO1" "0000439634" "GNAO1" "0000439635" "GNAO1" "0000439636" "GNAO1" "0000439637" "GNAO1" "0000439638" "GNAO1" "0000439639" "GNAO1" "0000439640" "GNAO1" "0000439641" "GNAO1" "0000439642" "GNAO1" "0000439643" "GNAO1" "0000439644" "GNAO1" "0000439645" "GNAO1" "0000439646" "GNAO1" "0000439647" "GNAO1" "0000439648" "GNAO1" "0000439649" "GNAO1" "0000439650" "GNAO1" "0000439651" "GNAO1" "0000439652" "GNAO1" "0000439653" "GNAO1" "0000439654" "GNAO1" "0000439655" "GNAO1" "0000439656" "GNAO1" "0000439657" "GNAO1" "0000439658" "GNAO1" "0000439659" "GNAO1" "0000439660" "GNAO1" "0000439661" "GNAO1" "0000439662" "GNAO1" "0000439663" "GNAO1" "0000439664" "GNAO1" "0000439665" "GNAO1" "0000439666" "GNAO1" "0000439667" "GNAO1" "0000439668" "GNAO1" "0000439669" "GNAO1" "0000439670" "GNAO1" "0000439671" "GNAO1" "0000439672" "GNAO1" "0000439673" "GNAO1" "0000439674" "GNAO1" "0000439675" "GNAO1" "0000439676" "GNAO1" "0000439677" "GNAO1" "0000439678" "GNAO1" "0000439679" "GNAO1" "0000439680" "GNAO1" "0000439681" "GNAO1" "0000439682" "GNAO1" "0000439683" "GNAO1" "0000439684" "GNAO1" "0000439685" "GNAO1" "0000439686" "GNAO1" "0000439687" "GNAO1" "0000439688" "GNAO1" "0000439689" "GNAO1" "0000439690" "GNAO1" "0000439691" "GNAO1" "0000439692" "GNAO1" "0000439693" "GNAO1" "0000439694" "GNAO1" "0000439695" "GNAO1" "0000439696" "GNAO1" "0000439697" "GNAO1" "0000439698" "GNAO1" "0000439699" "GNAO1" "0000439700" "GNAO1" "0000439701" "GNAO1" "0000439702" "GNAO1" "0000439703" "GNAO1" "0000439704" "GNAO1" "0000439705" "GNAO1" "0000439706" "GNAO1" "0000439707" "GNAO1" "0000439708" "GNAO1" "0000439709" "GNAO1" "0000439710" "GNAO1" "0000439711" "GNAO1" "0000439712" "GNAO1" "0000439713" "GNAO1" "0000439714" "GNAO1" "0000439715" "GNAO1" "0000439716" "GNAO1" "0000439717" "GNAO1" "0000439718" "GNAO1" "0000439719" "GNAO1" "0000439720" "GNAO1" "0000439721" "GNAO1" "0000439722" "GNAO1" "0000439723" "GNAO1" "0000439724" "GNAO1" "0000439725" "GNAO1" "0000439726" "GNAO1" "0000439727" "GNAO1" "0000439728" "GNAO1" "0000439729" "GNAO1" "0000439730" "GNAO1" "0000439731" "GNAO1" "0000439732" "GNAO1" "0000439733" "GNAO1" "0000439734" "GNAO1" "0000439735" "GNAO1" "0000439736" "GNAO1" "0000439737" "GNAO1" "0000439738" "GNAO1" "0000439739" "GNAO1" "0000439740" "GNAO1" "0000439744" "GNAO1" "0000439745" "GNAO1" "0000439748" "GNAO1" "0000439749" "GNAO1" "0000439750" "GNAO1" "0000439751" "GNAO1" "0000439752" "GNAO1" "0000439753" "GNAO1" "0000439754" "GNAO1" "0000439755" "GNAO1" "0000439756" "GNAO1" "0000439757" "GNAO1" "0000439758" "GNAO1" "0000439759" "GNAO1" "0000439760" "GNAO1" "0000439761" "GNAO1" "0000439762" "GNAO1" "0000439763" "GNAO1" ## 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 = 766 "{{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}}" "0000013577" "3" "30" "16" "56362881" "56362881" "subst" "0" "00037" "GNAO1_000001" "g.56362881A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.56328969A>C" "" "likely benign" "" "0000060770" "0" "70" "16" "56370729" "56370729" "subst" "0" "00111" "GNAO1_000002" "g.56370729C>T" "" "{PMID:Saitsu 2016:25966631}" "" "" "" "De novo" "" "rs797045599" "0" "" "" "g.56336817C>T" "" "likely pathogenic" "" "0000060771" "0" "70" "16" "56370656" "56370656" "subst" "0" "00111" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Saitsu 2016:25966631}" "" "" "" "De novo" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "likely pathogenic" "" "0000060772" "0" "70" "16" "56385308" "56385308" "subst" "0" "00111" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Saitsu 2016:25966631}" "" "" "" "De novo" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "likely pathogenic" "" "0000060773" "0" "70" "16" "56370674" "56370674" "subst" "0" "00111" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Saitsu 2016:25966631}" "" "" "" "De novo" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "likely pathogenic" "" "0000079368" "0" "90" "16" "56370674" "56370674" "subst" "0" "00006" "GNAO1_000005" "g.56370674C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000079372" "0" "90" "16" "56309901" "56309901" "subst" "0" "00006" "GNAO1_000007" "g.56309901T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.56275989T>G" "" "pathogenic" "" "0000079399" "0" "90" "16" "56370773" "56370773" "subst" "0" "00006" "GNAO1_000006" "g.56370773G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "splice variant" "De novo" "" "rs1596872804" "0" "" "" "g.56336861G>A" "" "pathogenic" "" "0000147296" "0" "90" "16" "56385408" "56385408" "subst" "0" "00006" "GNAO1_000008" "g.56385408T>A" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "rs587777054" "0" "" "" "g.56351496T>A" "" "pathogenic" "" "0000188236" "0" "50" "16" "56362672" "56362672" "subst" "8.12249E-6" "02192" "GNAO1_000009" "g.56362672C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.56328760C>T" "" "VUS" "" "0000281095" "0" "50" "16" "56362628" "56362628" "subst" "3.65461E-5" "02325" "GNAO1_000011" "g.56362628G>A" "" "" "" "GNAO1(NM_020988.3):c.389G>A (p.R130Q), GNAO1(NM_138736.3):c.389G>A (p.R130Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56328716G>A" "" "VUS" "" "0000283376" "0" "90" "16" "56385405" "56385407" "del" "0" "02329" "GNAO1_000015" "g.56385405_56385407del" "" "" "" "GNAO1(NM_020988.3):c.833_835delAGA (p.K278del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56351493_56351495del" "" "pathogenic" "" "0000284725" "0" "90" "16" "56370656" "56370656" "subst" "0" "02326" "GNAO1_000003" "g.56370656G>A" "" "" "" "GNAO1(NM_020988.3):c.607G>A (p.G203R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000284726" "0" "70" "16" "56370729" "56370729" "subst" "0" "02326" "GNAO1_000002" "g.56370729C>T" "" "" "" "GNAO1(NM_020988.3):c.680C>T (p.A227V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56336817C>T" "" "likely pathogenic" "" "0000284727" "0" "30" "16" "56385287" "56385287" "subst" "0.000204142" "02326" "GNAO1_000013" "g.56385287C>T" "" "" "" "GNAO1(NM_020988.3):c.724-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56351375C>T" "" "likely benign" "" "0000288529" "0" "30" "16" "56226222" "56226222" "subst" "6.59065E-5" "01943" "GNAO1_000010" "g.56226222G>A" "" "" "" "GNAO1(NM_020988.3):c.75G>A (p.E25=), GNAO1(NM_138736.2):c.75G>A (p.E25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56192310G>A" "" "likely benign" "" "0000324794" "0" "70" "16" "56385288" "56385288" "subst" "0" "01804" "GNAO1_000014" "g.56385288G>A" "" "" "" "GNAO1(NM_020988.2):c.724-8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56351376G>A" "" "likely pathogenic" "" "0000324795" "0" "50" "16" "56388930" "56388932" "del" "0" "01804" "GNAO1_000016" "g.56388930_56388932del" "" "" "" "GNAO1(NM_020988.2):c.1030_1032del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56355018_56355020del" "" "VUS" "" "0000345230" "0" "90" "16" "56370671" "56370671" "subst" "0" "02327" "GNAO1_000019" "g.56370671G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56336759G>C" "" "pathogenic" "" "0000349042" "0" "70" "16" "56226506" "56226506" "subst" "0" "02327" "GNAO1_000018" "g.56226506A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56192594A>G" "" "likely pathogenic" "" "0000368954" "0" "90" "16" "56370674" "56370674" "subst" "0" "01807" "GNAO1_000005" "g.56370674C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000558479" "0" "50" "16" "56226155" "56226155" "subst" "0" "01804" "GNAO1_000020" "g.56226155G>A" "" "" "" "GNAO1(NM_020988.2):c.8G>A (p.(Cys3Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56192243G>A" "" "VUS" "" "0000558480" "0" "70" "16" "56226265" "56226265" "subst" "0" "02327" "GNAO1_000021" "g.56226265G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56192353G>C" "" "likely pathogenic" "" "0000558481" "0" "70" "16" "56226508" "56226508" "subst" "0" "02325" "GNAO1_000022" "g.56226508C>A" "" "" "" "GNAO1(NM_138736.3):c.141C>A (p.S47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56192596C>A" "" "likely pathogenic" "" "0000558482" "0" "30" "16" "56226536" "56226536" "subst" "0.00168537" "02326" "GNAO1_000023" "g.56226536C>T" "" "" "" "GNAO1(NM_020988.3):c.161+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56192624C>T" "" "likely benign" "" "0000558483" "0" "30" "16" "56368781" "56368781" "subst" "0.000312934" "02326" "GNAO1_000024" "g.56368781A>C" "" "" "" "GNAO1(NM_020988.3):c.593+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56334869A>C" "" "likely benign" "" "0000558484" "0" "70" "16" "56370674" "56370674" "subst" "0" "01943" "GNAO1_000005" "g.56370674C>T" "" "" "" "GNAO1(NM_138736.2):c.625C>T (p.R209C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56336762C>T" "" "likely pathogenic" "" "0000616040" "0" "30" "16" "56377842" "56377842" "subst" "2.03323E-5" "02325" "GNAO1_000026" "g.56377842C>T" "" "" "" "GNAO1(NM_138736.3):c.1045C>T (p.R349W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56343930C>T" "" "likely benign" "" "0000624904" "0" "90" "16" "56370665" "56370665" "subst" "0" "01807" "GNAO1_000027" "g.56370665C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.56336753C>T" "" "pathogenic" "" "0000657871" "0" "50" "16" "56368649" "56368649" "subst" "0" "02327" "GNAO1_000028" "g.56368649A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56334737A>G" "" "VUS" "" "0000663287" "0" "90" "16" "56385308" "56385308" "subst" "0" "01807" "GNAO1_000004" "g.56385308G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000667492" "0" "90" "16" "56226500" "56226500" "subst" "0" "00006" "GNAO1_000029" "g.56226500G>C" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.56192588G>C" "" "pathogenic (dominant)" "ACMG" "0000667497" "0" "90" "16" "56385308" "56385308" "subst" "0" "00006" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.56351396G>A" "" "pathogenic (dominant)" "ACMG" "0000698178" "0" "90" "16" "56226491" "56226491" "subst" "0" "00006" "GNAO1_000030" "g.56226491G>C" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.56192579G>C" "" "pathogenic (dominant)" "" "0000725843" "0" "30" "16" "56226222" "56226222" "subst" "6.59065E-5" "02326" "GNAO1_000010" "g.56226222G>A" "" "" "" "GNAO1(NM_020988.3):c.75G>A (p.E25=), GNAO1(NM_138736.2):c.75G>A (p.E25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56192310G>A" "" "likely benign" "" "0000725844" "0" "50" "16" "56362687" "56362687" "subst" "0" "01943" "GNAO1_000031" "g.56362687A>C" "" "" "" "GNAO1(NM_020988.2):c.448A>C (p.(Asn150His)), GNAO1(NM_138736.2):c.448A>C (p.N150H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56328775A>C" "" "VUS" "" "0000725845" "0" "90" "16" "56370675" "56370675" "subst" "0" "02329" "GNAO1_000012" "g.56370675G>A" "" "" "" "GNAO1(NM_138736.3):c.626G>A (p.R209H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000725846" "0" "30" "16" "56385400" "56385400" "subst" "0.000247814" "02326" "GNAO1_000032" "g.56385400C>T" "" "" "" "GNAO1(NM_020988.3):c.828C>T (p.G276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56351488C>T" "" "likely benign" "" "0000807451" "0" "30" "16" "56226174" "56226174" "subst" "0.000365488" "02326" "GNAO1_000033" "g.56226174G>A" "" "" "" "GNAO1(NM_020988.3):c.27G>A (p.E9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56192262G>A" "" "likely benign" "" "0000841178" "0" "90" "16" "56370665" "56370665" "subst" "0" "00006" "GNAO1_000027" "g.56370665C>T" "" "{PMID:Froukh 2020:32056211}" "" "" "" "De novo" "" "" "0" "" "" "g.56336753C>T" "" "pathogenic (dominant)" "" "0000864846" "0" "50" "16" "56309845" "56309845" "subst" "0" "02325" "GNAO1_000034" "g.56309845T>A" "" "" "" "GNAO1(NM_020988.3):c.164T>A (p.I55N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56275933T>A" "" "VUS" "" "0000871841" "0" "90" "16" "56385408" "56385408" "subst" "0" "00006" "GNAO1_000008" "g.56385408T>A" "" "{PMID:Nakamura 2013:23993195}" "" "" "" "De novo" "" "rs587777054" "0" "" "" "g.56351496T>A" "" "pathogenic (dominant)" "" "0000871842" "0" "90" "16" "56368697" "56368697" "subst" "0" "00006" "GNAO1_000035" "g.56368697A>G" "" "{PMID:Nakamura 2013:23993195}" "" "" "0.35-0.50 somatic mosaicism" "Somatic" "" "rs587777055" "0" "" "" "g.56334785A>G" "" "pathogenic (dominant)" "" "0000871843" "0" "90" "16" "56368748" "56368768" "del" "0" "00006" "GNAO1_000036" "g.56368748_56368768del" "" "{PMID:Nakamura 2013:23993195}" "" "" "" "De novo" "" "rs587777056" "0" "" "" "g.56334836_56334856del" "" "pathogenic (dominant)" "" "0000871844" "0" "90" "16" "56370656" "56370656" "subst" "0" "00006" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Nakamura 2013:23993195}" "" "" "" "De novo" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic (dominant)" "" "0000914644" "0" "70" "16" "56368712" "56368712" "subst" "0" "02326" "GNAO1_000037" "g.56368712G>A" "" "" "" "GNAO1(NM_020988.3):c.536G>A (p.R179K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56334800G>A" "" "likely pathogenic" "" "0000926304" "0" "70" "16" "56368726" "56368726" "subst" "0" "02329" "GNAO1_000038" "g.56368726G>A" "" "" "" "GNAO1(NM_138736.3):c.550G>A (p.G184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56334814G>A" "" "likely pathogenic" "" "0000935202" "0" "70" "16" "56226215" "56226215" "subst" "0" "04362" "GNAO1_000057" "g.56226215T>C" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192303T>C" "" "likely pathogenic" "" "0000935203" "0" "70" "16" "56226258" "56226260" "del" "0" "04362" "GNAO1_000063" "g.56226258_56226260del" "" "{PMID:Wirth 2022:35722775}" "" "111_113delCCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192346_56192348del" "" "likely pathogenic" "" "0000935204" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000066" "g.56226265G>A" "" "{PMID:Bruun 2018: 28817111}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>A" "" "pathogenic" "" "0000935205" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000066" "g.56226265G>A" "" "{PMID:DDD 2015:25533962}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>A" "" "pathogenic" "" "0000935206" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000066" "g.56226265G>A" "" "Lecoquierre 2018" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>A" "" "pathogenic" "" "0000935207" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000021" "g.56226265G>C" "" "Lecoquierre 2018" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>C" "" "pathogenic" "" "0000935208" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000021" "g.56226265G>C" "" "{PMID:Danti 2017:28357411}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>C" "" "pathogenic" "" "0000935209" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000021" "g.56226265G>C" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>C" "" "pathogenic" "" "0000935210" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000021" "g.56226265G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>C" "" "pathogenic" "" "0000935211" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000021" "g.56226265G>C" "" "{PMID:DDD 2017:28135719}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>C" "" "pathogenic" "" "0000935212" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000021" "g.56226265G>C" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>C" "" "pathogenic" "" "0000935213" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000021" "g.56226265G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>C" "" "pathogenic" "" "0000935214" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000067" "g.56226265G>T" "" "{PMID:Rim 2018: 29390993}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>T" "" "pathogenic" "" "0000935215" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000067" "g.56226265G>T" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs886041715" "0" "" "" "g.56192353G>T" "" "pathogenic" "" "0000935216" "0" "90" "16" "56226486" "56226486" "subst" "0" "04362" "GNAO1_000068" "g.56226486G>A" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs886041766" "0" "" "" "g.56192574G>A" "" "pathogenic" "" "0000935217" "0" "90" "16" "56226486" "56226486" "subst" "0" "04362" "GNAO1_000068" "g.56226486G>A" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs886041766" "0" "" "" "g.56192574G>A" "" "pathogenic" "" "0000935218" "0" "90" "16" "56226491" "56226491" "subst" "0" "04362" "GNAO1_000071" "g.56226491G>A" "" "{PMID:Liu 2022:35509770}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192579G>A" "" "pathogenic" "" "0000935219" "0" "90" "16" "56226500" "56226500" "subst" "0" "04362" "GNAO1_000029" "g.56226500G>C" "" "{PMID:Powis 2020: 31628766}" "" "" "" "Germline/De novo (untested)" "" "rs869312939" "0" "" "" "g.56192588G>C" "" "pathogenic" "" "0000935220" "0" "90" "16" "56226501" "56226501" "subst" "0" "04362" "GNAO1_000073" "g.56226501G>A" "" "{PMID:Gawlinski 2016: 27343026}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192589G>A" "" "pathogenic" "" "0000935221" "0" "90" "16" "56226503" "56226503" "subst" "0" "04362" "GNAO1_000074" "g.56226503A>G" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192591A>G" "" "pathogenic" "" "0000935222" "0" "70" "16" "56226504" "56226504" "subst" "0" "04362" "GNAO1_000075" "g.56226504A>G" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192592A>G" "" "likely pathogenic" "" "0000935223" "0" "70" "16" "56226505" "56226505" "subst" "0" "04362" "GNAO1_000076" "g.56226505A>T" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192593A>T" "" "likely pathogenic" "" "0000935224" "0" "90" "16" "56226506" "56226506" "subst" "0" "04362" "GNAO1_000018" "g.56226506A>G" "" "{PMID:Danti 2017:28357411}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192594A>G" "" "pathogenic" "" "0000935225" "0" "90" "16" "56226506" "56226506" "subst" "0" "04362" "GNAO1_000018" "g.56226506A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192594A>G" "" "pathogenic" "" "0000935226" "0" "70" "16" "56226508" "56226508" "subst" "0" "04362" "GNAO1_000022" "g.56226508C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192596C>A" "" "likely pathogenic" "" "0000935227" "0" "90" "16" "56226522" "56226522" "subst" "0" "04362" "GNAO1_000083" "g.56226522A>C" "" "{PMID:Rim 2018: 29390993}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192610A>C" "" "pathogenic" "" "0000935228" "0" "90" "16" "56226522" "56226522" "subst" "0" "04362" "GNAO1_000084" "g.56226522A>G" "" "{PMID:Solis 2021: 34685729}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56192610A>G" "" "pathogenic" "" "0000935229" "0" "50" "16" "56309845" "56309845" "subst" "0" "04362" "GNAO1_000034" "g.56309845T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56275933T>A" "" "VUS" "" "0000935230" "0" "70" "16" "56309848" "56309848" "subst" "0" "04362" "GNAO1_000086" "g.56309848T>C" "" "{PMID:Danti 2017:28357411}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56275936T>C" "" "likely pathogenic" "" "0000935231" "0" "50" "16" "56309851" "56309851" "subst" "0" "04362" "GNAO1_000087" "g.56309851A>C" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56275939A>C" "" "VUS" "" "0000935232" "0" "50" "16" "56309899" "56309899" "subst" "0" "04362" "GNAO1_000092" "g.56309899T>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56275987T>A" "" "VUS" "" "0000935233" "0" "90" "16" "56309901" "56309901" "subst" "0" "04362" "GNAO1_000007" "g.56309901T>G" "" "0" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56275989T>G" "" "pathogenic" "" "0000935234" "0" "50" "16" "56362664" "56362664" "subst" "0" "04362" "GNAO1_000145" "g.56362664A>C" "" "{PMID:Helbig 2020: 32666661}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56328752A>C" "" "VUS" "" "0000935235" "0" "70" "16" "56368646" "56368646" "subst" "0" "04362" "GNAO1_000157" "g.56368646T>C" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56334734T>C" "" "likely pathogenic" "" "0000935236" "0" "70" "16" "56368646" "56368646" "subst" "0" "04362" "GNAO1_000157" "g.56368646T>C" "" "Decipher" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56334734T>C" "" "likely pathogenic" "" "0000935237" "0" "70" "16" "56368661" "56368661" "subst" "0" "04362" "GNAO1_000161" "g.56368661G>A" "" "{PMID:Bobylova 2023:36719128}" "" "" "" "Germline/De novo (untested)" "" "rs1240134140" "0" "" "" "g.56334749G>A" "" "likely pathogenic" "" "0000935238" "0" "90" "16" "56368697" "56368697" "subst" "0" "04362" "GNAO1_000035" "g.56368697A>G" "" "0" "" "" "" "Germline/De novo (untested)" "" "rs587777055" "0" "" "" "g.56334785A>G" "" "pathogenic" "" "0000935239" "0" "90" "16" "56368696" "56368696" "subst" "0" "04362" "GNAO1_000173" "g.56368696G>A" "" "Shah 2022, ISPMD" "" "" "" "Germline/De novo (untested)" "" "rs1567488305" "0" "" "" "g.56334784G>A" "" "pathogenic" "" "0000935240" "0" "70" "16" "56368706" "56368706" "subst" "0" "04362" "GNAO1_000176" "g.56368706G>C" "" "{PMID:Muir 2019: 31394400}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56334794G>C" "" "likely pathogenic" "" "0000935241" "0" "90" "16" "56368711" "56368711" "subst" "0" "04362" "GNAO1_000177" "g.56368711A>G" "" "{PMID:Graziola 2019: 31737037}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56334799A>G" "" "pathogenic" "" "0000935242" "0" "90" "16" "56368721" "56368721" "subst" "0" "04362" "GNAO1_000179" "g.56368721C>T" "" "{PMID:Turro 2020:32581362}" "" "" "" "Germline/De novo (untested)" "" "rs1596871452" "0" "" "" "g.56334809C>T" "" "pathogenic" "" "0000935243" "0" "90" "16" "56368721" "56368721" "subst" "0" "04362" "GNAO1_000179" "g.56368721C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs1596871452" "0" "" "" "g.56334809C>T" "" "pathogenic" "" "0000935244" "0" "90" "16" "56368721" "56368721" "subst" "0" "04362" "GNAO1_000179" "g.56368721C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs1596871452" "0" "" "" "g.56334809C>T" "" "pathogenic" "" "0000935245" "0" "90" "16" "56368726" "56368726" "subst" "0" "04362" "GNAO1_000038" "g.56368726G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs1555507383" "0" "" "" "g.56334814G>A" "" "pathogenic" "" "0000935246" "0" "70" "16" "56368726" "56368726" "subst" "0" "04362" "GNAO1_000180" "g.56368726G>C" "" "{PMID:Powis 2020: 31628766}" "" "" "" "Germline/De novo (untested)" "" "rs1555507383" "0" "" "" "g.56334814G>C" "" "likely pathogenic" "" "0000935247" "0" "90" "16" "56368748" "56368768" "del" "0" "04362" "GNAO1_000036" "g.56368748_56368768del" "" "0" "" "" "" "Germline/De novo (untested)" "" "rs587777056" "0" "" "" "g.56334836_56334856del" "" "pathogenic" "" "0000935248" "0" "70" "16" "56370641" "56370641" "del" "0" "04362" "GNAO1_000185" "g.56370641del" "" "Decipher" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336729del" "" "likely pathogenic" "" "0000935249" "0" "90" "16" "56370645" "56370645" "subst" "0" "04362" "GNAO1_000039" "g.56370645T>C" "" "{PMID:Marce-Grau 2016: 27072799}, {PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM1, PM2, PP2, PP3, PP5, PS2" "De novo" "" "" "0" "" "" "g.56336733T>C" "" "pathogenic (dominant)" "ACMG" "0000935250" "0" "90" "16" "56370645" "56370645" "subst" "0" "04362" "GNAO1_000039" "g.56370645T>C" "" "{PMID:Zou 2021: 34145886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336733T>C" "" "pathogenic" "" "0000935251" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Arisaka 2021: 33490948}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935252" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Arya 2017: 28202424}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935253" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Fernandez-Marmiesse 2019:31780880}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935254" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Fernandez-Marmiesse 2019:31780880}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935255" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935256" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935257" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935258" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935259" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:DDD 2017:28135719}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935260" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:DDD 2017:28135719}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935261" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935262" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935263" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{DOI:Pawłowicz 2021:10.12775/JEHS.2021.11.12.018}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935264" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935265" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Schirinzi 2019:30642806}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935266" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Schirinzi 2019:30642806}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935267" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Schorling 2017:28628939}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935268" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Schorling 2017:28628939}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935269" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Takata 2019:31175295}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935270" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Xiong 2018:29429466}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935271" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935272" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Bobylova 2023:36719128}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935273" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Bobylova 2023:36719128}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935274" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Bobylova 2023:36719128}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935275" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Bobylova 2023:36719128}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935276" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Bobylova 2023:36719128}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935277" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Bobylova 2023:36719128}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935278" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "Shah 2022, ISPMD" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935279" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935280" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935281" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935282" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935283" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935284" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935285" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935286" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935287" "0" "90" "16" "56370659" "56370659" "subst" "0" "04362" "GNAO1_000193" "g.56370659G>C" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336747G>C" "" "pathogenic" "" "0000935288" "0" "90" "16" "56370659" "56370659" "subst" "0" "04362" "GNAO1_000193" "g.56370659G>C" "" "{PMID:Koy 2018:30103967}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336747G>C" "" "pathogenic" "" "0000935289" "0" "90" "16" "56370660" "56370660" "subst" "0" "04362" "GNAO1_000194" "g.56370660G>T" "" "{PMID:Yamamoto 2022:35402648}" "" "611G>T (Gly204Asp)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336748G>T" "" "pathogenic" "" "0000935290" "0" "70" "16" "56370665" "56370665" "subst" "0" "04362" "GNAO1_000027" "g.56370665C>T" "" "0" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336753C>T" "" "likely pathogenic" "" "0000935291" "0" "90" "16" "56370666" "56370666" "subst" "0" "04362" "GNAO1_000196" "g.56370666G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1297225571" "0" "" "" "g.56336754G>A" "" "pathogenic" "" "0000935292" "0" "90" "16" "56370666" "56370666" "subst" "0" "04362" "GNAO1_000196" "g.56370666G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1297225571" "0" "" "" "g.56336754G>A" "" "pathogenic" "" "0000935293" "0" "90" "16" "56370666" "56370666" "subst" "0" "04362" "GNAO1_000196" "g.56370666G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1297225571" "0" "" "" "g.56336754G>A" "" "pathogenic" "" "0000935294" "0" "90" "16" "56370666" "56370666" "subst" "0" "04362" "GNAO1_000197" "g.56370666G>T" "" "{PMID:Kim 2020:33298085}" "" "Arg206Leu" "" "Germline/De novo (untested)" "" "rs1297225571" "0" "" "" "g.56336754G>T" "" "pathogenic" "" "0000935295" "0" "90" "16" "56370669" "56370669" "subst" "0" "04362" "GNAO1_000198" "g.56370669C>T" "" "{PMID:Yamashita 2020:32044685}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336757C>T" "" "pathogenic" "" "0000935296" "0" "90" "16" "56370669" "56370669" "subst" "0" "04362" "GNAO1_000199" "g.56370669C>A" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs1057518440" "0" "" "" "g.56336757C>A" "" "pathogenic" "" "0000935297" "0" "90" "16" "56370671" "56370671" "subst" "0" "04362" "GNAO1_000019" "g.56370671G>C" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336759G>C" "" "pathogenic" "" "0000935298" "0" "90" "16" "56370671" "56370671" "subst" "0" "04362" "GNAO1_000019" "g.56370671G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336759G>C" "" "pathogenic" "" "0000935299" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000200" "g.56370674C>G" "" "{PMID:Ananth 2016:27068059}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>G" "" "pathogenic" "" "0000935300" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Akasaka 2021:33358199}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935301" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Brunet 2021:33619735}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935302" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Brunet 2021:33619735}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935303" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Danhofer 2021:34853807}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935304" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Danti 2017:28357411}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935305" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Danti 2017:28357411}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935306" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Dzinovic 2021:34399161}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935307" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935308" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935309" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935310" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Koy 2018:30103967}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935311" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Koy 2018:30103967}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935312" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Kwong 2021:33446253}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935313" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Malaquias 2019:31190250}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935314" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:DDD 2017:28135719}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935315" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:DDD 2017:28135719}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935316" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935317" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Schirinzi 2019:30642806}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935318" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Waak 2018:28668776}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935319" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Zech 2020:33098801}" "" "" "" "De novo" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic (dominant)" "" "0000935320" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935321" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935322" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935323" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Kim 2020:33298085}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935324" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935325" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Ananth 2016:27068059}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935326" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Blumkin 2018:29801190}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935327" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Dhamija 2016:30838255}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935328" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Kulkarni 2016:26060304}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935329" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Kulkarni 2016:26060304}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935330" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Marecos 2018:29696620}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935331" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Brunet 2021:33619735}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935332" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Menke 2016:27625011}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935333" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Zech 2020:33098801}" "" "" "" "De novo" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic (dominant)" "" "0000935334" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Hu 2023:36972929}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935335" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935336" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935337" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000201" "g.56370675G>C" "" "{PMID:van der Ven 2021:34490615}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336763G>C" "" "pathogenic" "" "0000935338" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000202" "g.56370675G>T" "" "{PMID:Honey 2018:29661126}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>T" "" "pathogenic" "" "0000935339" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000202" "g.56370675G>T" "" "{PMID:Menke 2016:27625011}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>T" "" "pathogenic" "" "0000935340" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000202" "g.56370675G>T" "" "{DOI:Schöne-Bake 2018:10.1055/s-0038-1675951}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>T" "" "pathogenic" "" "0000935341" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000202" "g.56370675G>T" "" "{PMID:Matthews 2019:30542205}" "" "" "" "Germline/De novo (untested)" "" "rs797044878" "0" "" "" "g.56336763G>T" "" "pathogenic" "" "0000935342" "0" "90" "16" "56370693" "56370693" "subst" "0" "04362" "GNAO1_000203" "g.56370693G>A" "" "{PMID:Carecchio 2019:31216378}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336781G>A" "" "pathogenic" "" "0000935343" "0" "90" "16" "56370693" "56370693" "subst" "0" "04362" "GNAO1_000203" "g.56370693G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336781G>A" "" "pathogenic" "" "0000935344" "0" "90" "16" "56370693" "56370693" "subst" "0" "04362" "GNAO1_000203" "g.56370693G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336781G>A" "" "pathogenic" "" "0000935345" "0" "90" "16" "56370693" "56370693" "subst" "0" "04362" "GNAO1_000203" "g.56370693G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336781G>A" "" "pathogenic" "" "0000935346" "0" "90" "16" "56370693" "56370693" "subst" "0" "04362" "GNAO1_000203" "g.56370693G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336781G>A" "" "pathogenic" "" "0000935347" "0" "90" "16" "56370711" "56370711" "subst" "0" "04362" "GNAO1_000208" "g.56370711C>A" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs1555507479" "0" "" "" "g.56336799C>A" "" "pathogenic" "" "0000935348" "0" "90" "16" "56370711" "56370711" "subst" "0" "04362" "GNAO1_000208" "g.56370711C>A" "" "{PMID:May 2021:34114234}" "" "" "" "Germline/De novo (untested)" "" "rs1555507479" "0" "" "" "g.56336799C>A" "" "pathogenic" "" "0000935349" "0" "70" "16" "56370723" "56370723" "subst" "0" "04362" "GNAO1_000209" "g.56370723G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336811G>A" "" "likely pathogenic" "" "0000935350" "0" "70" "16" "56370725" "56370726" "del" "0" "04362" "GNAO1_000210" "g.56370725_56370726del" "" "{PMID:Thiel 2023:37225406}" "" "676_677delGT" "" "Germline/De novo (untested)" "" "rs1064797211" "0" "" "" "g.56336813_56336814del" "" "likely pathogenic" "" "0000935351" "0" "90" "16" "56370729" "56370729" "subst" "0" "04362" "GNAO1_000002" "g.56370729C>T" "" "{PMID:Kim 2020:33298085}" "" "" "" "Germline/De novo (untested)" "" "rs797045599" "0" "" "" "g.56336817C>T" "" "pathogenic" "" "0000935352" "0" "90" "16" "56370729" "56370729" "subst" "0" "04362" "GNAO1_000002" "g.56370729C>T" "" "{PMID:Mahfouz 2020:32382396}" "" "" "" "Germline/De novo (untested)" "" "rs797045599" "0" "" "" "g.56336817C>T" "" "pathogenic" "" "0000935353" "0" "90" "16" "56370729" "56370729" "subst" "0" "04362" "GNAO1_000002" "g.56370729C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs797045599" "0" "" "" "g.56336817C>T" "" "pathogenic" "" "0000935354" "0" "90" "16" "56370729" "56370729" "subst" "0" "04362" "GNAO1_000002" "g.56370729C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs797045599" "0" "" "" "g.56336817C>T" "" "pathogenic" "" "0000935355" "0" "70" "16" "56370732" "56370732" "subst" "0" "04362" "GNAO1_000211" "g.56370732T>C" "" "{PMID:Nashabat 2019:31054490}" "" "" "" "Germline/De novo (untested)" "" "rs1085307932" "0" "" "" "g.56336820T>C" "" "likely pathogenic" "" "0000935356" "0" "90" "16" "56370736" "56370736" "subst" "0" "04362" "GNAO1_000041" "g.56370736C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs546569747" "0" "" "" "g.56336824C>A" "" "pathogenic" "" "0000935357" "0" "90" "16" "56370736" "56370736" "subst" "0" "04362" "GNAO1_000212" "g.56370736C>G" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336824C>G" "" "pathogenic" "" "0000935358" "0" "90" "16" "56370741" "56370741" "subst" "0" "04362" "GNAO1_000215" "g.56370741A>G" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs1057518678" "0" "" "" "g.56336829A>G" "" "pathogenic" "" "0000935359" "0" "90" "16" "56370741" "56370741" "subst" "0" "04362" "GNAO1_000215" "g.56370741A>G" "" "{PMID:Talvik 2015:28503590}" "" "" "" "Germline/De novo (untested)" "" "rs1057518678" "0" "" "" "g.56336829A>G" "" "pathogenic" "" "0000935360" "0" "90" "16" "56370741" "56370741" "subst" "0" "04362" "GNAO1_000215" "g.56370741A>G" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "rs1057518678" "0" "" "" "g.56336829A>G" "" "pathogenic" "" "0000935361" "0" "90" "16" "56370741" "56370741" "subst" "0" "04362" "GNAO1_000215" "g.56370741A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs1057518678" "0" "" "" "g.56336829A>G" "" "pathogenic" "" "0000935362" "0" "90" "16" "56370741" "56370741" "subst" "0" "04362" "GNAO1_000215" "g.56370741A>G" "" "{PMID:Rosello 2021:33177673}" "" "" "" "Germline/De novo (untested)" "" "rs1057518678" "0" "" "" "g.56336829A>G" "" "pathogenic" "" "0000935363" "0" "70" "16" "56370747" "56370747" "subst" "0" "04362" "GNAO1_000216" "g.56370747A>C" "" "{PMID:Yilmaz 2016:27278281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336835A>C" "" "likely pathogenic" "" "0000935364" "0" "70" "16" "56370747" "56370747" "subst" "0" "04362" "GNAO1_000216" "g.56370747A>C" "" "{PMID:Yilmaz 2016:27278281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336835A>C" "" "likely pathogenic" "" "0000935365" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Cordoba 2018:29389947}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935366" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Fernandez-Marmiesse 2019:31780880}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935367" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935368" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Koy 2018:30103967}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935369" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Koy 2018:30103967}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935370" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Marecos 2018:29696620}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935371" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Al Masseri 2022:35782616}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935372" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Al Masseri 2022:35782616}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935373" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Monies 2019:31585110}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935374" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Okumura 2018:29935962}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935375" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{DOI:Pawłowicz 2021:10.12775/JEHS.2021.11.12.018}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935376" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Schirinzi 2019:30642806}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935377" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Turro 2020:32581362}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935378" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Turro 2020:32581362}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935379" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Waak 2018:28668776}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935380" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Fung 2022:35855141}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935381" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Zech 2020:33098801}" "" "" "" "De novo" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935382" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Ling 2022:36247896}" "" "" "" "Germline/De novo (untested)" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935383" "0" "70" "16" "56370762" "56370762" "subst" "0" "04362" "GNAO1_000219" "g.56370762A>G" "" "{PMID:Bobylova 2023:36719128}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336850A>G" "" "likely pathogenic" "" "0000935384" "0" "90" "16" "56370773" "56370773" "subst" "0" "04362" "GNAO1_000006" "g.56370773G>A" "" "{PMID:Danti 2017:28357411}" "" "" "" "Germline/De novo (untested)" "" "rs1596872804" "0" "" "" "g.56336861G>A" "" "pathogenic" "" "0000935385" "0" "90" "16" "56370773" "56370773" "subst" "0" "04362" "GNAO1_000006" "g.56370773G>A" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs1596872804" "0" "" "" "g.56336861G>A" "" "pathogenic" "" "0000935386" "0" "70" "16" "56370773" "56370773" "subst" "0" "04362" "GNAO1_000223" "g.56370773G>T" "" "{PMID:Koy 2018:30103967}" "" "" "" "Germline/De novo (untested)" "" "rs1596872804" "0" "" "" "g.56336861G>T" "" "likely pathogenic" "" "0000935387" "0" "70" "16" "56370773" "56370773" "subst" "0" "04362" "GNAO1_000223" "g.56370773G>T" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs1596872804" "0" "" "" "g.56336861G>T" "" "likely pathogenic" "" "0000935388" "0" "70" "16" "56370774" "56370774" "subst" "0" "04362" "GNAO1_000224" "g.56370774T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56336862T>A" "" "likely pathogenic" "" "0000935389" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935390" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Monies 2019:31585110}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935391" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935392" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935393" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Al Masseri 2022:35782616}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935394" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Al Masseri 2022:35782616}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935395" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Al Masseri 2022:35782616}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935396" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "(Miyamoto, Nakashima, Fukumura, Kumada, & Saitsu, 2022)" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935397" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935398" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935399" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935400" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935401" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935402" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935403" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935404" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935405" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Liu 2022:35509770}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935406" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Liu 2022:35509770}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935407" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935408" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935409" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935410" "0" "90" "16" "56385297" "56385297" "subst" "0" "04362" "GNAO1_000354" "g.56385297A>C" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "rs1085307894" "0" "" "" "g.56351385A>C" "" "pathogenic" "" "0000935411" "0" "70" "16" "56385302" "56385303" "delins" "0" "04362" "GNAO1_000043" "g.56385302_56385303delinsCG" "" "{PMID:Hamdan 2017:29100083}" "" "730_731delATinsCG" "" "De novo" "" "" "0" "" "" "g.56351390_56351391delinsCG" "" "likely pathogenic" "" "0000935412" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Farwell 2015:26795593}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935413" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Ananth 2016:27068059}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935414" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Ananth 2016:27068059}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935415" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Ananth 2016:27068059}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935416" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Ananth 2016:27068059}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935417" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Waak 2018:28668776}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935418" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Schorling 2017:28628939}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935419" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Schorling 2017:28628939}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935420" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Takezawa 2018:29761117}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935421" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Benato 2019:31076915}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935422" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Benato 2019:31076915}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935423" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Kim 2020:33298085}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935424" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935425" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "Shah 2022, ISPMD" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935426" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "Mor (pers.comm.)" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935427" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935428" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935429" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935430" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935431" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Novelli 2023:37142469}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935432" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935433" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935434" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935435" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935436" "0" "70" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000358" "g.56385308G>C" "" "{PMID:Liu 2019:31216405}" "" "" "" "Germline/De novo (untested)" "" "rs797044951" "0" "" "" "g.56351396G>C" "" "likely pathogenic" "" "0000935437" "0" "70" "16" "56385307" "56385309" "dup" "0" "04362" "GNAO1_000357" "g.56385307_56385309dup" "" "{PMID:Zou 2021: 34145886}" "" "737_738insCGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351395_56351397dup" "" "likely pathogenic" "" "0000935438" "0" "70" "16" "56385309" "56385309" "subst" "0" "04362" "GNAO1_000359" "g.56385309A>G" "" "{PMID:Danti 2017:28357411}" "" "" "" "Germline/De novo (untested)" "" "rs1114167431" "0" "" "" "g.56351397A>G" "" "likely pathogenic" "" "0000935439" "0" "70" "16" "56385309" "56385309" "subst" "0" "04362" "GNAO1_000360" "g.56385309A>T" "" "{PMID:Wirth 2022:35722775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351397A>T" "" "likely pathogenic" "" "0000935440" "0" "70" "16" "56385337" "56385337" "dup" "0" "04362" "GNAO1_000366" "g.56385337dup" "" "{PMID:Wirth 2022:35722775}" "" "765dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351425dup" "" "likely pathogenic" "" "0000935441" "0" "70" "16" "56385337" "56385337" "dup" "0" "04362" "GNAO1_000366" "g.56385337dup" "" "{PMID:Wirth 2022:35722775}" "" "766dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351425dup" "" "likely pathogenic" "" "0000935442" "0" "90" "16" "56385380" "56385380" "subst" "0" "04362" "GNAO1_000370" "g.56385380A>C" "" "{PMID:Euro 2017: 28061363}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351468A>C" "" "pathogenic" "" "0000935443" "0" "90" "16" "56385380" "56385380" "subst" "0" "04362" "GNAO1_000371" "g.56385380A>G" "" "{PMID:Takata 2019:31175295}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351468A>G" "" "pathogenic" "" "0000935444" "0" "70" "16" "56385382" "56385382" "subst" "0" "04362" "GNAO1_000373" "g.56385382C>A" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351470C>A" "" "likely pathogenic" "" "0000935445" "0" "70" "16" "56385389" "56385389" "subst" "0" "04362" "GNAO1_000376" "g.56385389G>T" "" "{PMID:Yang 2021:34122306}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351477G>T" "" "likely pathogenic" "" "0000935446" "0" "70" "16" "56385390" "56385390" "subst" "0" "04362" "GNAO1_000377" "g.56385390A>T" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs2037920694" "0" "" "" "g.56351478A>T" "" "likely pathogenic" "" "0000935447" "0" "70" "16" "56385390" "56385390" "subst" "0" "04362" "GNAO1_000377" "g.56385390A>T" "" "{PMID:Schirinzi 2019:30642806}" "" "" "" "Germline/De novo (untested)" "" "rs2037920694" "0" "" "" "g.56351478A>T" "" "likely pathogenic" "" "0000935448" "0" "90" "16" "56385396" "56385396" "subst" "0" "04362" "GNAO1_000378" "g.56385396T>C" "" "{PMID:Euro 2017: 28061363}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351484T>C" "" "pathogenic" "" "0000935449" "0" "90" "16" "56385396" "56385396" "subst" "0" "04362" "GNAO1_000378" "g.56385396T>C" "" "{PMID:Yuskaitis 2018:30174244}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351484T>C" "" "pathogenic" "" "0000935450" "0" "90" "16" "56385396" "56385396" "subst" "0" "04362" "GNAO1_000378" "g.56385396T>C" "" "{PMID:Zou 2021: 34145886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351484T>C" "" "pathogenic" "" "0000935451" "0" "90" "16" "56385405" "56385407" "del" "0" "04362" "GNAO1_000015" "g.56385405_56385407del" "" "{PMID:Baldridge 2017:28252636}" "" "832_834delAAG" "" "Germline/De novo (untested)" "" "rs2037920791" "0" "" "" "g.56351493_56351495del" "" "pathogenic" "" "0000935452" "0" "90" "16" "56385405" "56385407" "del" "0" "04362" "GNAO1_000015" "g.56385405_56385407del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "833_834delAAG" "" "Germline/De novo (untested)" "" "rs2037920791" "0" "" "" "g.56351493_56351495del" "" "pathogenic" "" "0000935453" "0" "90" "16" "56385405" "56385407" "del" "0" "04362" "GNAO1_000015" "g.56385405_56385407del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "834_834delAAG" "" "Germline/De novo (untested)" "" "rs2037920791" "0" "" "" "g.56351493_56351495del" "" "pathogenic" "" "0000935454" "0" "90" "16" "56385408" "56385408" "subst" "0" "04362" "GNAO1_000008" "g.56385408T>A" "" "{PMID:Karaca 2018:29790871}" "" "" "" "Germline/De novo (untested)" "" "rs587777054" "0" "" "" "g.56351496T>A" "" "pathogenic" "" "0000935455" "0" "90" "16" "56385408" "56385408" "subst" "0" "04362" "GNAO1_000008" "g.56385408T>A" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs587777054" "0" "" "" "g.56351496T>A" "" "pathogenic" "" "0000935456" "0" "90" "16" "56385423" "56385423" "subst" "0" "04362" "GNAO1_000381" "g.56385423T>C" "" "{PMID:Gerald 2018:29961512}" "" "" "" "Germline/De novo (untested)" "" "rs1555508316" "0" "" "" "g.56351511T>C" "" "pathogenic" "" "0000935457" "0" "50" "16" "56385435" "56385435" "subst" "0" "04362" "GNAO1_000384" "g.56385435T>C" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351523T>C" "" "VUS" "" "0000935458" "0" "90" "16" "56385443" "56385443" "subst" "0" "04362" "GNAO1_000386" "g.56385443T>A" "" "{PMID:Kelly 2019:30682224}" "" "" "" "Germline/De novo (untested)" "" "rs1064795384" "0" "" "" "g.56351531T>A" "" "pathogenic" "" "0000935459" "0" "90" "16" "56385443" "56385443" "subst" "0" "04362" "GNAO1_000386" "g.56385443T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "Germline/De novo (untested)" "" "rs1064795384" "0" "" "" "g.56351531T>A" "" "pathogenic" "" "0000935460" "0" "70" "16" "56385444" "56385444" "subst" "0" "04362" "GNAO1_000387" "g.56385444A>G" "" "Shah 2022, ISPMD" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56351532A>G" "" "likely pathogenic" "" "0000935461" "0" "70" "16" "56388804" "56388806" "del" "0" "04362" "GNAO1_000397" "g.56388804_56388806del" "" "{PMID:Kim 2020:33298085}" "" "901_903del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56354892_56354894del" "" "likely pathogenic" "" "0000935462" "0" "70" "16" "56388880" "56388880" "subst" "0" "04362" "GNAO1_000407" "g.56388880C>A" "" "{PMID:Caswell, 2022:35869530}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56354968C>A" "" "likely pathogenic" "" "0000935463" "0" "50" "16" "56388886" "56388886" "del" "0" "04362" "GNAO1_000410" "g.56388886del" "" "{PMID:Thiel 2023:37225406}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56354974del" "" "VUS" "" "0000935464" "0" "70" "16" "56388913" "56388915" "del" "0" "04362" "GNAO1_000412" "g.56388913_56388915del" "" "{PMID:Kim 2020:33298085}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56355001_56355003del" "" "likely pathogenic" "" "0000935465" "0" "90" "16" "56388930" "56388932" "del" "0" "04362" "GNAO1_000016" "g.56388930_56388932del" "" "{PMID:Kelly 2019:30682224}" "" "1030_1032delATT" "" "Germline/De novo (untested)" "" "rs2037954707" "0" "" "" "g.56355018_56355020del" "" "pathogenic" "" "0000935466" "0" "90" "16" "56388930" "56388932" "del" "0" "04362" "GNAO1_000016" "g.56388930_56388932del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "1030_1032delATT" "" "Germline/De novo (untested)" "" "rs2037954707" "0" "" "" "g.56355018_56355020del" "" "pathogenic" "" "0000935467" "0" "90" "16" "56388930" "56388932" "del" "0" "04362" "GNAO1_000016" "g.56388930_56388932del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "1030_1032delATT" "" "Germline/De novo (untested)" "" "rs2037954707" "0" "" "" "g.56355018_56355020del" "" "pathogenic" "" "0000935469" "0" "70" "16" "56226150" "56226150" "subst" "0" "04362" "GNAO1_000053" "g.56226150G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "Met1Ile" "" "SUMMARY record" "" "" "0" "" "" "g.56192238G>T" "" "likely pathogenic" "" "0000935470" "0" "50" "16" "56226155" "56226155" "subst" "0" "04362" "GNAO1_000020" "g.56226155G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192243G>A" "" "VUS" "" "0000935471" "0" "10" "16" "56226179" "56226179" "subst" "0" "04362" "GNAO1_000054" "g.56226179C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1380348729" "0" "" "" "g.56192267C>T" "" "benign" "" "0000935472" "0" "70" "16" "56226185" "56226185" "subst" "0" "04362" "GNAO1_000055" "g.56226185T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555499768" "0" "" "" "g.56192273T>C" "" "likely pathogenic" "" "0000935473" "0" "50" "16" "56226223" "56226223" "subst" "0" "04362" "GNAO1_000058" "g.56226223G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192311G>A" "" "VUS" "" "0000935474" "0" "50" "16" "56226236" "56226236" "subst" "0" "04362" "GNAO1_000059" "g.56226236C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192324C>T" "" "VUS" "" "0000935475" "0" "50" "16" "56226241" "56226241" "subst" "0" "04362" "GNAO1_000060" "g.56226241A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2036182956" "0" "" "" "g.56192329A>G" "" "VUS" "" "0000935476" "0" "50" "16" "56226247" "56226247" "subst" "0" "04362" "GNAO1_000061" "g.56226247G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192335G>A" "" "VUS" "" "0000935477" "0" "50" "16" "56226247" "56226247" "subst" "0" "04362" "GNAO1_000419" "g.56226247G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1567431805" "0" "" "" "g.56192335G>C" "" "VUS" "" "0000935478" "0" "50" "16" "56226255" "56226255" "subst" "0" "04362" "GNAO1_000062" "g.56226255A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1284492592" "0" "" "" "g.56192343A>C" "" "VUS" "" "0000935479" "0" "50" "16" "56226262" "56226262" "subst" "0" "04362" "GNAO1_000064" "g.56226262C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192350C>T" "" "VUS" "" "0000935480" "0" "70" "16" "56226263" "56226263" "subst" "0" "04362" "GNAO1_000065" "g.56226263T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555499769" "0" "" "" "g.56192351T>C" "" "likely pathogenic" "" "0000935481" "0" "90" "16" "56226486" "56226486" "subst" "0" "04362" "GNAO1_000069" "g.56226486G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs886041766" "0" "" "" "g.56192574G>T" "" "pathogenic" "" "0000935482" "0" "50" "16" "56226488" "56226488" "subst" "0" "04362" "GNAO1_000070" "g.56226488G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2036187623" "0" "" "" "g.56192576G>A" "" "VUS" "" "0000935483" "0" "70" "16" "56226494" "56226494" "subst" "0" "04362" "GNAO1_000072" "g.56226494G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2036187686" "0" "" "" "g.56192582G>C" "" "likely pathogenic" "" "0000935484" "0" "90" "16" "56226507" "56226507" "subst" "0" "04362" "GNAO1_000077" "g.56226507G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596787821" "0" "" "" "g.56192595G>A" "" "pathogenic" "" "0000935485" "0" "70" "16" "56226510" "56226510" "subst" "0" "04362" "GNAO1_000078" "g.56226510C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555499800" "0" "" "" "g.56192598C>A" "" "likely pathogenic" "" "0000935486" "0" "70" "16" "56226510" "56226510" "subst" "0" "04362" "GNAO1_000079" "g.56226510C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555499800" "0" "" "" "g.56192598C>T" "" "likely pathogenic" "" "0000935487" "0" "50" "16" "56226512" "56226512" "subst" "4.06095E-6" "04362" "GNAO1_000080" "g.56226512A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs763223472" "0" "" "" "g.56192600A>T" "" "VUS" "" "0000935488" "0" "50" "16" "56226512" "56226512" "subst" "0" "04362" "GNAO1_000081" "g.56226512A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192600A>C" "" "VUS" "" "0000935489" "0" "50" "16" "56226518" "56226518" "subst" "0" "04362" "GNAO1_000082" "g.56226518A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192606A>G" "" "VUS" "" "0000935490" "0" "50" "16" "56226525" "56226525" "subst" "0" "04362" "GNAO1_000085" "g.56226525T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192613T>A" "" "VUS" "" "0000935491" "0" "50" "16" "56309868" "56309868" "subst" "8.13948E-6" "04362" "GNAO1_000088" "g.56309868G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs940833242" "0" "" "" "g.56275956G>A" "" "VUS" "" "0000935492" "0" "50" "16" "56309877" "56309877" "subst" "8.13319E-6" "04362" "GNAO1_000089" "g.56309877G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs557932562" "0" "" "" "g.56275965G>A" "" "VUS" "" "0000935493" "0" "70" "16" "56309888" "56309888" "subst" "0" "04362" "GNAO1_000090" "g.56309888C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs77558236" "0" "" "" "g.56275976C>A" "" "likely pathogenic" "" "0000935494" "0" "50" "16" "56309895" "56309895" "subst" "4.06286E-6" "04362" "GNAO1_000091" "g.56309895G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs371330886" "0" "" "" "g.56275983G>A" "" "VUS" "" "0000935495" "0" "50" "16" "56309905" "56309905" "subst" "0" "04362" "GNAO1_000093" "g.56309905G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037057993" "0" "" "" "g.56275993G>A" "" "VUS" "" "0000935496" "0" "70" "16" "56309910" "56309910" "subst" "0" "04362" "GNAO1_000094" "g.56309910A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596836465" "0" "" "" "g.56275998A>C" "" "likely pathogenic" "" "0000935497" "0" "50" "16" "56309913" "56309913" "subst" "0" "04362" "GNAO1_000095" "g.56309913A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1263683170" "0" "" "" "g.56276001A>G" "" "VUS" "" "0000935498" "0" "50" "16" "56309913" "56309913" "subst" "0" "04362" "GNAO1_000096" "g.56309913A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56276001A>C" "" "VUS" "" "0000935499" "0" "50" "16" "56309925" "56309925" "subst" "0" "04362" "GNAO1_000097" "g.56309925G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1198213656" "0" "" "" "g.56276013G>A" "" "VUS" "" "0000935500" "0" "50" "16" "56309934" "56309934" "subst" "0" "04362" "GNAO1_000098" "g.56309934G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs903629384" "0" "" "" "g.56276022G>A" "" "VUS" "" "0000935501" "0" "50" "16" "56309937" "56309937" "subst" "1.625E-5" "04362" "GNAO1_000099" "g.56309937C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs767115578" "0" "" "" "g.56276025C>T" "" "VUS" "" "0000935502" "0" "30" "16" "56309938" "56309938" "subst" "0" "04362" "GNAO1_000100" "g.56309938G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1301302019" "0" "" "" "g.56276026G>A" "" "likely benign" "" "0000935503" "0" "50" "16" "56309943" "56309943" "subst" "0" "04362" "GNAO1_000101" "g.56309943A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555504233" "0" "" "" "g.56276031A>G" "" "VUS" "" "0000935504" "0" "50" "16" "56309944" "56309944" "subst" "0" "04362" "GNAO1_000102" "g.56309944T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1221678868" "0" "" "" "g.56276032T>C" "" "VUS" "" "0000935505" "0" "50" "16" "56309944" "56309944" "subst" "0" "04362" "GNAO1_000103" "g.56309944T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1221678868" "0" "" "" "g.56276032T>G" "" "VUS" "" "0000935506" "0" "50" "16" "56309948" "56309948" "subst" "0" "04362" "GNAO1_000104" "g.56309948C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs201728736" "0" "" "" "g.56276036C>A" "" "VUS" "" "0000935507" "0" "50" "16" "56309955" "56309955" "subst" "0" "04362" "GNAO1_000105" "g.56309955G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1309389793" "0" "" "" "g.56276043G>A" "" "VUS" "" "0000935508" "0" "50" "16" "56309956" "56309956" "subst" "0" "04362" "GNAO1_000106" "g.56309956G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1271540719" "0" "" "" "g.56276044G>A" "" "VUS" "" "0000935509" "0" "50" "16" "56309958" "56309958" "subst" "0" "04362" "GNAO1_000107" "g.56309958A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037058607" "0" "" "" "g.56276046A>G" "" "VUS" "" "0000935510" "0" "50" "16" "56309961" "56309961" "subst" "0" "04362" "GNAO1_000108" "g.56309961G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037058679" "0" "" "" "g.56276049G>A" "" "VUS" "" "0000935511" "0" "50" "16" "56309965" "56309965" "subst" "0" "04362" "GNAO1_000109" "g.56309965A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1341492901" "0" "" "" "g.56276053A>G" "" "VUS" "" "0000935512" "0" "30" "16" "56309967" "56309967" "subst" "5.69383E-5" "04362" "GNAO1_000110" "g.56309967G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs559674838" "0" "" "" "g.56276055G>A" "" "likely benign" "" "0000935513" "0" "50" "16" "56309968" "56309968" "subst" "4.06838E-6" "04362" "GNAO1_000111" "g.56309968G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs189990922" "0" "" "" "g.56276056G>A" "" "VUS" "" "0000935514" "0" "50" "16" "56309968" "56309968" "subst" "8.13676E-6" "04362" "GNAO1_000112" "g.56309968G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs189990922" "0" "" "" "g.56276056G>C" "" "VUS" "" "0000935515" "0" "50" "16" "56309971" "56309971" "subst" "4.07007E-6" "04362" "GNAO1_000113" "g.56309971A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs778669032" "0" "" "" "g.56276059A>G" "" "VUS" "" "0000935516" "0" "50" "16" "56309971" "56309971" "subst" "4.07007E-6" "04362" "GNAO1_000114" "g.56309971A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs778669032" "0" "" "" "g.56276059A>T" "" "VUS" "" "0000935517" "0" "30" "16" "56362548" "56362548" "subst" "0" "04362" "GNAO1_000115" "g.56362548C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs372103298" "0" "" "" "g.56328636C>A" "" "likely benign" "" "0000935518" "0" "50" "16" "56362549" "56362549" "subst" "4.066E-6" "04362" "GNAO1_000116" "g.56362549G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs375429245" "0" "" "" "g.56328637G>A" "" "VUS" "" "0000935519" "0" "50" "16" "56362557" "56362557" "subst" "4.06408E-6" "04362" "GNAO1_000117" "g.56362557G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs978834925" "0" "" "" "g.56328645G>C" "" "VUS" "" "0000935520" "0" "50" "16" "56362558" "56362558" "subst" "4.06306E-6" "04362" "GNAO1_000118" "g.56362558G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs777981381" "0" "" "" "g.56328646G>C" "" "VUS" "" "0000935521" "0" "50" "16" "56362562" "56362562" "subst" "4.06237E-6" "04362" "GNAO1_000119" "g.56362562G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1355385627" "0" "" "" "g.56328650G>A" "" "VUS" "" "0000935522" "0" "50" "16" "56362565" "56362565" "subst" "0" "04362" "GNAO1_000120" "g.56362565A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037659126" "0" "" "" "g.56328653A>T" "" "VUS" "" "0000935523" "0" "50" "16" "56362573" "56362573" "subst" "0" "04362" "GNAO1_000121" "g.56362573A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037659241" "0" "" "" "g.56328661A>G" "" "VUS" "" "0000935524" "0" "50" "16" "56362577" "56362577" "subst" "0" "04362" "GNAO1_000122" "g.56362577G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs956210011" "0" "" "" "g.56328665G>A" "" "VUS" "" "0000935525" "0" "10" "16" "56362582" "56362582" "subst" "0" "04362" "GNAO1_000123" "g.56362582G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56328670G>A" "" "benign" "" "0000935526" "0" "30" "16" "56362593" "56362593" "subst" "0" "04362" "GNAO1_000124" "g.56362593G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1567485534" "0" "" "" "g.56328681G>C" "" "likely benign" "" "0000935527" "0" "30" "16" "56362593" "56362593" "subst" "0" "04362" "GNAO1_000125" "g.56362593G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1567485534" "0" "" "" "g.56328681G>T" "" "likely benign" "" "0000935528" "0" "50" "16" "56362597" "56362597" "subst" "0" "04362" "GNAO1_000126" "g.56362597T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037659527" "0" "" "" "g.56328685T>G" "" "VUS" "" "0000935529" "0" "50" "16" "56362608" "56362608" "subst" "4.06058E-6" "04362" "GNAO1_000127" "g.56362608G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs776163992" "0" "" "" "g.56328696G>T" "" "VUS" "" "0000935530" "0" "50" "16" "56362616" "56362616" "subst" "0" "04362" "GNAO1_000128" "g.56362616C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1338335814" "0" "" "" "g.56328704C>G" "" "VUS" "" "0000935531" "0" "50" "16" "56362618" "56362618" "subst" "0" "04362" "GNAO1_000129" "g.56362618G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037659641" "0" "" "" "g.56328706G>T" "" "VUS" "" "0000935532" "0" "50" "16" "56362619" "56362619" "subst" "0" "04362" "GNAO1_000130" "g.56362619C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1469972348" "0" "" "" "g.56328707C>A" "" "VUS" "" "0000935533" "0" "50" "16" "56362623" "56362623" "subst" "4.06065E-6" "04362" "GNAO1_000131" "g.56362623G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1344023119" "0" "" "" "g.56328711G>T" "" "VUS" "" "0000935534" "0" "30" "16" "56362625" "56362625" "subst" "1.21821E-5" "04362" "GNAO1_000132" "g.56362625T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs200539902" "0" "" "" "g.56328713T>C" "" "likely benign" "" "0000935535" "0" "50" "16" "56362626" "56362626" "subst" "0" "04362" "GNAO1_000133" "g.56362626G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037659789" "0" "" "" "g.56328714G>A" "" "VUS" "" "0000935536" "0" "50" "16" "56362627" "56362627" "subst" "8.1215E-6" "04362" "GNAO1_000134" "g.56362627C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs200127285" "0" "" "" "g.56328715C>G" "" "VUS" "" "0000935537" "0" "50" "16" "56362627" "56362627" "subst" "1.6243E-5" "04362" "GNAO1_000135" "g.56362627C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs539662922" "0" "" "" "g.56328715C>T" "" "VUS" "" "0000935538" "0" "30" "16" "56362628" "56362628" "subst" "3.65461E-5" "04362" "GNAO1_000011" "g.56362628G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs200127285" "0" "" "" "g.56328716G>A" "" "likely benign" "" "0000935539" "0" "70" "16" "56362635" "56362635" "subst" "0" "04362" "GNAO1_000136" "g.56362635G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1293266907" "0" "" "" "g.56328723G>T" "" "likely pathogenic" "" "0000935540" "0" "50" "16" "56362636" "56362636" "subst" "0" "04362" "GNAO1_000137" "g.56362636G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs374115337" "0" "" "" "g.56328724G>C" "" "VUS" "" "0000935541" "0" "10" "16" "56362636" "56362636" "subst" "8.12123E-6" "04362" "GNAO1_000138" "g.56362636G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs374115337" "0" "" "" "g.56328724G>A" "" "benign" "" "0000935542" "0" "70" "16" "56362639" "56362639" "subst" "4.06081E-6" "04362" "GNAO1_000139" "g.56362639G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs921565958" "0" "" "" "g.56328727G>A" "" "likely pathogenic" "" "0000935543" "0" "50" "16" "56362642" "56362642" "subst" "0" "04362" "GNAO1_000140" "g.56362642T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037660138" "0" "" "" "g.56328730T>C" "" "VUS" "" "0000935544" "0" "50" "16" "56362651" "56362651" "subst" "1.21819E-5" "04362" "GNAO1_000141" "g.56362651C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs759081912" "0" "" "" "g.56328739C>G" "" "VUS" "" "0000935545" "0" "50" "16" "56362652" "56362652" "subst" "0" "04362" "GNAO1_000142" "g.56362652A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1245351159" "0" "" "" "g.56328740A>G" "" "VUS" "" "0000935546" "0" "50" "16" "56362654" "56362654" "subst" "0" "04362" "GNAO1_000143" "g.56362654G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1464565646" "0" "" "" "g.56328742G>A" "" "VUS" "" "0000935547" "0" "50" "16" "56362663" "56362663" "subst" "0" "04362" "GNAO1_000144" "g.56362663A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1273554289" "0" "" "" "g.56328751A>C" "" "VUS" "" "0000935548" "0" "10" "16" "56362664" "56362664" "subst" "4.06075E-5" "04362" "GNAO1_000146" "g.56362664A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs758424351" "0" "" "" "g.56328752A>G" "" "benign" "" "0000935549" "0" "30" "16" "56362666" "56362666" "subst" "0" "04362" "GNAO1_000147" "g.56362666C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56328754C>T" "" "likely benign" "" "0000935550" "0" "50" "16" "56362667" "56362667" "subst" "8.12229E-6" "04362" "GNAO1_000148" "g.56362667G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs777414554" "0" "" "" "g.56328755G>A" "" "VUS" "" "0000935551" "0" "50" "16" "56362667" "56362667" "subst" "0" "04362" "GNAO1_000149" "g.56362667G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56328755G>T" "" "VUS" "" "0000935552" "0" "50" "16" "56362672" "56362672" "subst" "8.12249E-6" "04362" "GNAO1_000009" "g.56362672C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "432C>T (Arg145Trp)" "" "SUMMARY record" "" "rs757388426" "0" "" "" "g.56328760C>T" "" "VUS" "" "0000935553" "0" "50" "16" "56362687" "56362687" "subst" "0" "04362" "GNAO1_000031" "g.56362687A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037660713" "0" "" "" "g.56328775A>C" "" "VUS" "" "0000935554" "0" "50" "16" "56362688" "56362688" "subst" "0" "04362" "GNAO1_000150" "g.56362688A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56328776A>G" "" "VUS" "" "0000935555" "0" "70" "16" "56362690" "56362690" "subst" "0" "04362" "GNAO1_000151" "g.56362690G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596867702" "0" "" "" "g.56328778G>A" "" "likely pathogenic" "" "0000935556" "0" "50" "16" "56362696" "56362696" "subst" "0" "04362" "GNAO1_000152" "g.56362696G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1348698138" "0" "" "" "g.56328784G>A" "" "VUS" "" "0000935557" "0" "50" "16" "56362699" "56362699" "subst" "0" "04362" "GNAO1_000153" "g.56362699A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1056430816" "0" "" "" "g.56328787A>C" "" "VUS" "" "0000935558" "0" "50" "16" "56362705" "56362705" "subst" "0" "04362" "GNAO1_000154" "g.56362705T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56328793T>C" "" "VUS" "" "0000935559" "0" "50" "16" "56362708" "56362708" "subst" "0" "04362" "GNAO1_000155" "g.56362708G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56328796G>A" "" "VUS" "" "0000935560" "0" "50" "16" "56368638" "56368638" "subst" "0" "04362" "GNAO1_000156" "g.56368638C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596871341" "0" "" "" "g.56334726C>T" "" "VUS" "" "0000935561" "0" "30" "16" "56368649" "56368649" "subst" "0" "04362" "GNAO1_000028" "g.56368649A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334737A>G" "" "likely benign" "" "0000935562" "0" "50" "16" "56368654" "56368654" "subst" "0" "04362" "GNAO1_000158" "g.56368654C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1454558144" "0" "" "" "g.56334742C>G" "" "VUS" "" "0000935563" "0" "50" "16" "56368655" "56368655" "subst" "0" "04362" "GNAO1_000159" "g.56368655T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334743T>C" "" "VUS" "" "0000935564" "0" "50" "16" "56368659" "56368659" "subst" "0" "04362" "GNAO1_000160" "g.56368659T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596871381" "0" "" "" "g.56334747T>A" "" "VUS" "" "0000935565" "0" "50" "16" "56368664" "56368664" "subst" "2.84354E-5" "04362" "GNAO1_000162" "g.56368664T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs760544764" "0" "" "" "g.56334752T>C" "" "VUS" "" "0000935566" "0" "50" "16" "56368666" "56368666" "subst" "0" "04362" "GNAO1_000163" "g.56368666G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1182604320" "0" "" "" "g.56334754G>T" "" "VUS" "" "0000935567" "0" "50" "16" "56368667" "56368667" "subst" "0" "04362" "GNAO1_000164" "g.56368667G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1029083149" "0" "" "" "g.56334755G>T" "" "VUS" "" "0000935568" "0" "50" "16" "56368669" "56368669" "subst" "4.0626E-6" "04362" "GNAO1_000165" "g.56368669G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1159636167" "0" "" "" "g.56334757G>C" "" "VUS" "" "0000935569" "0" "50" "16" "56368670" "56368670" "subst" "0" "04362" "GNAO1_000166" "g.56368670C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037724184" "0" "" "" "g.56334758C>T" "" "VUS" "" "0000935570" "0" "10" "16" "56368672" "56368672" "subst" "3.25018E-5" "04362" "GNAO1_000167" "g.56368672G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs375960435" "0" "" "" "g.56334760G>A" "" "benign" "" "0000935571" "0" "50" "16" "56368675" "56368675" "subst" "0" "04362" "GNAO1_000168" "g.56368675G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037724346" "0" "" "" "g.56334763G>A" "" "VUS" "" "0000935572" "0" "50" "16" "56368675" "56368675" "subst" "0" "04362" "GNAO1_000169" "g.56368675G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334763G>C" "" "VUS" "" "0000935573" "0" "50" "16" "56368683" "56368683" "subst" "4.06161E-6" "04362" "GNAO1_000170" "g.56368683G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs762554588" "0" "" "" "g.56334771G>C" "" "VUS" "" "0000935574" "0" "70" "16" "56368685" "56368685" "subst" "0" "04362" "GNAO1_000171" "g.56368685C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334773C>G" "" "likely pathogenic" "" "0000935575" "0" "50" "16" "56368688" "56368688" "subst" "8.12255E-6" "04362" "GNAO1_000172" "g.56368688C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs763888697" "0" "" "" "g.56334776C>A" "" "VUS" "" "0000935576" "0" "70" "16" "56368703" "56368704" "delins" "0" "04362" "GNAO1_000174" "g.56368703_56368704delinsAA" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037724743" "0" "" "" "g.56334791_56334792delinsAA" "" "likely pathogenic" "" "0000935577" "0" "50" "16" "56368705" "56368705" "subst" "0" "04362" "GNAO1_000175" "g.56368705C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037724762" "0" "" "" "g.56334793C>T" "" "VUS" "" "0000935578" "0" "70" "16" "56368712" "56368712" "subst" "0" "04362" "GNAO1_000037" "g.56368712G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334800G>A" "" "likely pathogenic" "" "0000935579" "0" "70" "16" "56368712" "56368712" "subst" "0" "04362" "GNAO1_000178" "g.56368712G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334800G>C" "" "likely pathogenic" "" "0000935580" "0" "50" "16" "56368729" "56368729" "subst" "0" "04362" "GNAO1_000181" "g.56368729A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334817A>G" "" "VUS" "" "0000935581" "0" "50" "16" "56368732" "56368732" "subst" "0" "04362" "GNAO1_000182" "g.56368732G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1331690209" "0" "" "" "g.56334820G>A" "" "VUS" "" "0000935582" "0" "50" "16" "56368757" "56368757" "subst" "0" "04362" "GNAO1_000183" "g.56368757A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596871479" "0" "" "" "g.56334845A>C" "" "VUS" "" "0000935583" "0" "50" "16" "56368766" "56368766" "subst" "0" "04362" "GNAO1_000184" "g.56368766T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037725290" "0" "" "" "g.56334854T>G" "" "VUS" "" "0000935584" "0" "50" "16" "56370644" "56370644" "subst" "0" "04362" "GNAO1_000186" "g.56370644C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037743524" "0" "" "" "g.56336732C>G" "" "VUS" "" "0000935585" "0" "90" "16" "56370650" "56370650" "subst" "0" "04362" "GNAO1_000187" "g.56370650G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs567136805" "0" "" "" "g.56336738G>C" "" "pathogenic" "" "0000935586" "0" "90" "16" "56370651" "56370651" "subst" "0" "04362" "GNAO1_000188" "g.56370651A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336739A>T" "" "pathogenic" "" "0000935587" "0" "70" "16" "56370653" "56370653" "subst" "0" "04362" "GNAO1_000189" "g.56370653G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1297388989" "0" "" "" "g.56336741G>C" "" "likely pathogenic" "" "0000935588" "0" "50" "16" "56370653" "56370653" "subst" "0" "04362" "GNAO1_000190" "g.56370653G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1297388989" "0" "" "" "g.56336741G>A" "" "VUS" "" "0000935589" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000191" "g.56370656G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs587777057" "0" "" "" "g.56336744G>C" "" "pathogenic" "" "0000935590" "0" "90" "16" "56370657" "56370657" "subst" "0" "04362" "GNAO1_000192" "g.56370657G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336745G>A" "" "pathogenic" "" "0000935591" "0" "70" "16" "56370660" "56370660" "subst" "0" "04362" "GNAO1_000194" "g.56370660G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336748G>A" "" "likely pathogenic" "" "0000935592" "0" "70" "16" "56370663" "56370663" "subst" "0" "04362" "GNAO1_000195" "g.56370663A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336751A>C" "" "likely pathogenic" "" "0000935593" "0" "90" "16" "56370666" "56370666" "subst" "0" "04362" "GNAO1_000197" "g.56370666G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336754G>T" "" "pathogenic" "" "0000935594" "0" "70" "16" "56370698" "56370698" "subst" "0" "04362" "GNAO1_000204" "g.56370698G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555507477" "0" "" "" "g.56336786G>A" "" "likely pathogenic" "" "0000935595" "0" "50" "16" "56370700" "56370700" "subst" "0" "04362" "GNAO1_000205" "g.56370700G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336788G>C" "" "VUS" "" "0000935596" "0" "50" "16" "56370704" "56370704" "subst" "0" "04362" "GNAO1_000206" "g.56370704G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037744218" "0" "" "" "g.56336792G>A" "" "VUS" "" "0000935597" "0" "70" "16" "56370705" "56370705" "subst" "0" "04362" "GNAO1_000207" "g.56370705T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs12721461" "0" "" "" "g.56336793T>C" "" "likely pathogenic" "" "0000935598" "0" "90" "16" "56370736" "56370736" "subst" "0" "04362" "GNAO1_000212" "g.56370736C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs546569747" "0" "" "" "g.56336824C>G" "" "pathogenic" "" "0000935599" "0" "50" "16" "56370737" "56370737" "subst" "0" "04362" "GNAO1_000213" "g.56370737G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037744620" "0" "" "" "g.56336825G>A" "" "VUS" "" "0000935600" "0" "50" "16" "56370738" "56370738" "subst" "0" "04362" "GNAO1_000214" "g.56370738G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs759775512" "0" "" "" "g.56336826G>A" "" "VUS" "" "0000935601" "0" "50" "16" "56370767" "56370767" "subst" "0" "04362" "GNAO1_000220" "g.56370767A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1163621468" "0" "" "" "g.56336855A>G" "" "VUS" "" "0000935602" "0" "50" "16" "56370768" "56370768" "subst" "0" "04362" "GNAO1_000221" "g.56370768C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037744867" "0" "" "" "g.56336856C>G" "" "VUS" "" "0000935603" "0" "50" "16" "56370771" "56370771" "subst" "0" "04362" "GNAO1_000222" "g.56370771C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1456274473" "0" "" "" "g.56336859C>T" "" "VUS" "" "0000935604" "0" "70" "16" "56385303" "56385303" "subst" "0" "04362" "GNAO1_000355" "g.56385303T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037919953" "0" "" "" "g.56351391T>A" "" "likely pathogenic" "" "0000935605" "0" "50" "16" "56385306" "56385306" "subst" "4.06362E-6" "04362" "GNAO1_000356" "g.56385306A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs760862770" "0" "" "" "g.56351394A>G" "" "VUS" "" "0000935606" "0" "50" "16" "56385318" "56385318" "subst" "0" "04362" "GNAO1_000361" "g.56385318T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1357923280" "0" "" "" "g.56351406T>C" "" "VUS" "" "0000935607" "0" "90" "16" "56385320" "56385320" "subst" "0" "04362" "GNAO1_000362" "g.56385320C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351408C>T" "" "pathogenic" "" "0000935608" "0" "50" "16" "56385325" "56385325" "subst" "0" "04362" "GNAO1_000363" "g.56385325C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs755484788" "0" "" "" "g.56351413C>G" "" "VUS" "" "0000935609" "0" "30" "16" "56385326" "56385326" "subst" "0" "04362" "GNAO1_000364" "g.56385326G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037920339" "0" "" "" "g.56351414G>A" "" "likely benign" "" "0000935610" "0" "50" "16" "56385331" "56385331" "dup" "0" "04362" "GNAO1_000365" "g.56385331dup" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037920369" "0" "" "" "g.56351419dup" "" "VUS" "" "0000935611" "0" "50" "16" "56385362" "56385362" "subst" "0" "04362" "GNAO1_000368" "g.56385362T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs112085622" "0" "" "" "g.56351450T>C" "" "VUS" "" "0000935612" "0" "30" "16" "56385365" "56385365" "subst" "0" "04362" "GNAO1_000369" "g.56385365A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037920534" "0" "" "" "g.56351453A>G" "" "likely benign" "" "0000935613" "0" "70" "16" "56385381" "56385381" "subst" "0" "04362" "GNAO1_000372" "g.56385381A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596881854" "0" "" "" "g.56351469A>C" "" "likely pathogenic" "" "0000935614" "0" "50" "16" "56385383" "56385383" "subst" "0" "04362" "GNAO1_000374" "g.56385383A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555508311" "0" "" "" "g.56351471A>G" "" "VUS" "" "0000935615" "0" "70" "16" "56385385" "56385385" "subst" "0" "04362" "GNAO1_000375" "g.56385385G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs758779535" "0" "" "" "g.56351473G>C" "" "likely pathogenic" "" "0000935616" "0" "90" "16" "56385405" "56385407" "del" "0" "04362" "GNAO1_000015" "g.56385405_56385407del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "classification based on in vitro analysis (Slepak et al., 1993)" "SUMMARY record" "" "rs2037920791" "0" "" "" "g.56351493_56351495del" "" "pathogenic" "" "0000935617" "0" "70" "16" "56385416" "56385416" "subst" "0" "04362" "GNAO1_000379" "g.56385416T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "classification based on in vitro analysis (Slepak et al., 1993)" "SUMMARY record" "" "" "0" "" "" "g.56351504T>C" "" "likely pathogenic" "" "0000935618" "0" "50" "16" "56385419" "56385419" "subst" "4.06573E-6" "04362" "GNAO1_000380" "g.56385419C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs779593919" "0" "" "" "g.56351507C>T" "" "VUS" "" "0000935619" "0" "50" "16" "56385428" "56385428" "subst" "0" "04362" "GNAO1_000382" "g.56385428A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1386785579" "0" "" "" "g.56351516A>G" "" "VUS" "" "0000935620" "0" "50" "16" "56385428" "56385428" "subst" "0" "04362" "GNAO1_000383" "g.56385428A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1386785579" "0" "" "" "g.56351516A>T" "" "VUS" "" "0000935621" "0" "50" "16" "56385437" "56385437" "subst" "4.07687E-6" "04362" "GNAO1_000385" "g.56385437C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs768674142" "0" "" "" "g.56351525C>G" "" "VUS" "" "0000935622" "0" "50" "16" "56385447" "56385447" "subst" "0" "04362" "GNAO1_000388" "g.56385447C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037921244" "0" "" "" "g.56351535C>T" "" "VUS" "" "0000935623" "0" "30" "16" "56385451" "56385451" "subst" "0" "04362" "GNAO1_000389" "g.56385451T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1002222317" "0" "" "" "g.56351539T>A" "" "likely benign" "" "0000935624" "0" "50" "16" "56388780" "56388780" "subst" "4.08307E-6" "04362" "GNAO1_000390" "g.56388780C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1219437188" "0" "" "" "g.56354868C>T" "" "VUS" "" "0000935625" "0" "50" "16" "56388784" "56388784" "subst" "4.07784E-6" "04362" "GNAO1_000391" "g.56388784A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs371362351" "0" "" "" "g.56354872A>G" "" "VUS" "" "0000935626" "0" "50" "16" "56388786" "56388786" "subst" "0" "04362" "GNAO1_000392" "g.56388786A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs754547263" "0" "" "" "g.56354874A>C" "" "VUS" "" "0000935627" "0" "50" "16" "56388787" "56388787" "subst" "8.15468E-6" "04362" "GNAO1_000393" "g.56388787C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596883621" "0" "" "" "g.56354875C>T" "" "VUS" "" "0000935628" "0" "30" "16" "56388794" "56388794" "subst" "0" "04362" "GNAO1_000394" "g.56388794A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037953814" "0" "" "" "g.56354882A>T" "" "likely benign" "" "0000935629" "0" "70" "16" "56388798" "56388798" "subst" "4.07408E-6" "04362" "GNAO1_000395" "g.56388798G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs748093621" "0" "" "" "g.56354886G>A" "" "likely pathogenic" "" "0000935630" "0" "30" "16" "56388804" "56388804" "subst" "0" "04362" "GNAO1_000396" "g.56388804G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56354892G>A" "" "likely benign" "" "0000935631" "0" "50" "16" "56388817" "56388817" "subst" "0" "04362" "GNAO1_000398" "g.56388817C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037953966" "0" "" "" "g.56354905C>A" "" "VUS" "" "0000935632" "0" "70" "16" "56388824" "56388824" "subst" "0" "04362" "GNAO1_000399" "g.56388824T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs57295392" "0" "" "" "g.56354912T>G" "" "likely pathogenic" "" "0000935633" "0" "50" "16" "56388829" "56388829" "subst" "0" "04362" "GNAO1_000400" "g.56388829G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs771141469" "0" "" "" "g.56354917G>A" "" "VUS" "" "0000935634" "0" "70" "16" "56388837" "56388837" "subst" "0" "04362" "GNAO1_000401" "g.56388837C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56354925C>T" "" "likely pathogenic" "" "0000935635" "0" "50" "16" "56388838" "56388838" "subst" "0" "04362" "GNAO1_000402" "g.56388838G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56354926G>A" "" "VUS" "" "0000935636" "0" "50" "16" "56388847" "56388847" "subst" "4.06111E-6" "04362" "GNAO1_000403" "g.56388847A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1191986177" "0" "" "" "g.56354935A>G" "" "VUS" "" "0000935637" "0" "50" "16" "56388867" "56388867" "subst" "0" "04362" "GNAO1_000404" "g.56388867A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1383543515" "0" "" "" "g.56354955A>G" "" "VUS" "" "0000935638" "0" "70" "16" "56388873" "56388873" "subst" "0" "04362" "GNAO1_000405" "g.56388873T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037954227" "0" "" "" "g.56354961T>G" "" "likely pathogenic" "" "0000935639" "0" "70" "16" "56388879" "56388879" "subst" "0" "04362" "GNAO1_000406" "g.56388879A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1470946386" "0" "" "" "g.56354967A>C" "" "likely pathogenic" "" "0000935640" "0" "70" "16" "56388880" "56388880" "subst" "0" "04362" "GNAO1_000408" "g.56388880C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56354968C>G" "" "likely pathogenic" "" "0000935641" "0" "70" "16" "56388883" "56388883" "subst" "0" "04362" "GNAO1_000409" "g.56388883A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs878853051" "0" "" "" "g.56354971A>G" "" "likely pathogenic" "" "0000935642" "0" "50" "16" "56388900" "56388900" "subst" "0" "04362" "GNAO1_000411" "g.56388900G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037954431" "0" "" "" "g.56354988G>A" "" "VUS" "" "0000935643" "0" "50" "16" "56388915" "56388915" "subst" "0" "04362" "GNAO1_000413" "g.56388915G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037954591" "0" "" "" "g.56355003G>A" "" "VUS" "" "0000935644" "0" "50" "16" "56388931" "56388931" "subst" "0" "04362" "GNAO1_000414" "g.56388931T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56355019T>C" "" "VUS" "" "0000935645" "0" "50" "16" "56388949" "56388949" "subst" "0" "04362" "GNAO1_000417" "g.56388949G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037954783" "0" "" "" "g.56355037G>A" "" "VUS" "" "0000935646" "0" "50" "16" "56388954" "56388954" "subst" "0" "04362" "GNAO1_000418" "g.56388954G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56355042G>A" "" "VUS" "" "0000935649" "0" "50" "16" "56374747" "56374747" "subst" "4.06984E-6" "04362" "GNAO1_000225" "g.56374747A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1470175907" "0" "" "" "g.56340835A>T" "" "VUS" "" "0000935650" "0" "50" "16" "56374749" "56374749" "subst" "1.22133E-5" "04362" "GNAO1_000227" "g.56374749C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "(Arg243Lys)" "" "SUMMARY record" "" "rs746569229" "0" "" "" "g.56340837C>G" "" "VUS" "" "0000935651" "0" "50" "16" "56374749" "56374749" "subst" "0" "04362" "GNAO1_000228" "g.56374749C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs746569229" "0" "" "" "g.56340837C>T" "" "VUS" "" "0000935652" "0" "50" "16" "56374750" "56374750" "subst" "1.62779E-5" "04362" "GNAO1_000229" "g.56374750G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs757172284" "0" "" "" "g.56340838G>A" "" "VUS" "" "0000935653" "0" "50" "16" "56374752" "56374752" "subst" "4.0654E-6" "04362" "GNAO1_000230" "g.56374752A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1299928666" "0" "" "" "g.56340840A>C" "" "VUS" "" "0000935654" "0" "50" "16" "56374752" "56374752" "subst" "4.0654E-6" "04362" "GNAO1_000231" "g.56374752A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1299928666" "0" "" "" "g.56340840A>T" "" "VUS" "" "0000935655" "0" "50" "16" "56374755" "56374755" "subst" "0" "04362" "GNAO1_000232" "g.56374755C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs990570885" "0" "" "" "g.56340843C>A" "" "VUS" "" "0000935656" "0" "50" "16" "56374757" "56374757" "subst" "0.000284567" "04362" "GNAO1_000233" "g.56374757C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs200466903" "0" "" "" "g.56340845C>G" "" "VUS" "" "0000935657" "0" "50" "16" "56374758" "56374758" "subst" "1.62543E-5" "04362" "GNAO1_000234" "g.56374758G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs775322429" "0" "" "" "g.56340846G>A" "" "VUS" "" "0000935658" "0" "50" "16" "56374761" "56374761" "subst" "0" "04362" "GNAO1_000235" "g.56374761T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1212031214" "0" "" "" "g.56340849T>G" "" "VUS" "" "0000935659" "0" "50" "16" "56374770" "56374770" "subst" "4.06227E-6" "04362" "GNAO1_000236" "g.56374770C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs749507624" "0" "" "" "g.56340858C>T" "" "VUS" "" "0000935660" "0" "50" "16" "56374775" "56374775" "subst" "0" "04362" "GNAO1_000237" "g.56374775T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037795683" "0" "" "" "g.56340863T>G" "" "VUS" "" "0000935661" "0" "50" "16" "56374776" "56374776" "subst" "0" "04362" "GNAO1_000238" "g.56374776G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1337115692" "0" "" "" "g.56340864G>A" "" "VUS" "" "0000935662" "0" "50" "16" "56374780" "56374780" "subst" "0" "04362" "GNAO1_000239" "g.56374780G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037795767" "0" "" "" "g.56340868G>T" "" "VUS" "" "0000935663" "0" "50" "16" "56374788" "56374788" "subst" "0" "04362" "GNAO1_000240" "g.56374788A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs967625844" "0" "" "" "g.56340876A>C" "" "VUS" "" "0000935664" "0" "50" "16" "56374789" "56374789" "subst" "0" "04362" "GNAO1_000241" "g.56374789A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1176989847" "0" "" "" "g.56340877A>G" "" "VUS" "" "0000935665" "0" "10" "16" "56374792" "56374792" "subst" "0.000162442" "04362" "GNAO1_000242" "g.56374792A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs143576848" "0" "" "" "g.56340880A>G" "" "benign" "" "0000935666" "0" "50" "16" "56374810" "56374810" "subst" "4.06065E-6" "04362" "GNAO1_000243" "g.56374810C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs761819608" "0" "" "" "g.56340898C>A" "" "VUS" "" "0000935667" "0" "50" "16" "56374810" "56374810" "subst" "1.62426E-5" "04362" "GNAO1_000244" "g.56374810C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs761819608" "0" "" "" "g.56340898C>T" "" "VUS" "" "0000935668" "0" "50" "16" "56374812" "56374812" "subst" "0" "04362" "GNAO1_000245" "g.56374812T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1432592321" "0" "" "" "g.56340900T>C" "" "VUS" "" "0000935669" "0" "50" "16" "56374815" "56374815" "subst" "2.03031E-5" "04362" "GNAO1_000246" "g.56374815A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs202041900" "0" "" "" "g.56340903A>G" "" "VUS" "" "0000935670" "0" "50" "16" "56374818" "56374818" "subst" "4.06062E-6" "04362" "GNAO1_000247" "g.56374818A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1251314819" "0" "" "" "g.56340906A>G" "" "VUS" "" "0000935671" "0" "50" "16" "56374827" "56374828" "del" "0" "04362" "GNAO1_000248" "g.56374827_56374828del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "805-806delCT" "" "SUMMARY record" "" "rs1202918689" "0" "" "" "g.56340915_56340916del" "" "VUS" "" "0000935672" "0" "50" "16" "56374836" "56374838" "del" "0" "04362" "GNAO1_000250" "g.56374836_56374838del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "811-13delAAG" "" "SUMMARY record" "" "rs1271044200" "0" "" "" "g.56340924_56340926del" "" "VUS" "" "0000935673" "0" "50" "16" "56374834" "56374834" "subst" "8.12117E-6" "04362" "GNAO1_000249" "g.56374834A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1480620894" "0" "" "" "g.56340922A>G" "" "VUS" "" "0000935674" "0" "50" "16" "56374837" "56374837" "subst" "0" "04362" "GNAO1_000251" "g.56374837A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1455791075" "0" "" "" "g.56340925A>C" "" "VUS" "" "0000935675" "0" "50" "16" "56374840" "56374840" "subst" "0" "04362" "GNAO1_000252" "g.56374840A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037796329" "0" "" "" "g.56340928A>G" "" "VUS" "" "0000935676" "0" "50" "16" "56374840" "56374840" "subst" "0" "04362" "GNAO1_000253" "g.56374840A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037796329" "0" "" "" "g.56340928A>T" "" "VUS" "" "0000935677" "0" "50" "16" "56374841" "56374841" "subst" "0" "04362" "GNAO1_000254" "g.56374841C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037796359" "0" "" "" "g.56340929C>G" "" "VUS" "" "0000935678" "0" "50" "16" "56374842" "56374842" "subst" "4.06062E-6" "04362" "GNAO1_000255" "g.56374842A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1190453161" "0" "" "" "g.56340930A>G" "" "VUS" "" "0000935679" "0" "50" "16" "56374843" "56374843" "subst" "0" "04362" "GNAO1_000256" "g.56374843T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1365625924" "0" "" "" "g.56340931T>C" "" "VUS" "" "0000935680" "0" "50" "16" "56374851" "56374851" "subst" "4.06062E-6" "04362" "GNAO1_000257" "g.56374851G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" 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2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs749685192" "0" "" "" "g.56343861G>A" "" "VUS" "" "0000935744" "0" "50" "16" "56377773" "56377773" "subst" "8.12447E-6" "04362" "GNAO1_000329" "g.56377773G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs749685192" "0" "" "" "g.56343861G>T" "" "VUS" "" "0000935745" "0" "50" "16" "56377776" "56377776" "subst" "4.06151E-6" "04362" "GNAO1_000330" "g.56377776A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1276524211" "0" "" "" "g.56343864A>G" "" "VUS" "" "0000935746" "0" "50" "16" "56377779" "56377779" "subst" "4.06157E-6" "04362" "GNAO1_000331" "g.56377779G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs191191827" "0" "" "" "g.56343867G>A" "" "VUS" "" "0000935747" "0" "50" "16" "56377786" "56377786" "subst" "0" "04362" "GNAO1_000332" "g.56377786A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1339460298" "0" "" "" "g.56343874A>G" "" "VUS" "" "0000935748" "0" "50" "16" "56377786" "56377786" "subst" "0" "04362" "GNAO1_000333" "g.56377786A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1339460298" "0" "" "" "g.56343874A>T" "" "VUS" "" "0000935749" "0" "50" "16" "56377789" "56377789" "subst" "0" "04362" "GNAO1_000334" "g.56377789A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1222148370" "0" "" "" "g.56343877A>G" "" "VUS" "" "0000935750" "0" "50" "16" "56377791" "56377791" "subst" "0" "04362" "GNAO1_000335" "g.56377791A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037834415" "0" "" "" "g.56343879A>G" "" "VUS" "" "0000935751" "0" "50" "16" "56377795" "56377795" "subst" "4.06138E-6" "04362" "GNAO1_000336" "g.56377795A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs776186191" "0" "" "" "g.56343883A>T" "" "VUS" "" "0000935752" "0" "50" "16" "56377801" "56377801" "subst" "4.06144E-6" "04362" "GNAO1_000337" "g.56377801T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs759435322" "0" "" "" "g.56343889T>C" "" "VUS" "" "0000935753" "0" "50" "16" "56377804" "56377804" "subst" "0" "04362" "GNAO1_000338" "g.56377804T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037834621" "0" "" "" "g.56343892T>C" "" "VUS" "" "0000935754" "0" "50" "16" "56377805" "56377805" "subst" "0" "04362" "GNAO1_000339" "g.56377805T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs903948500" "0" "" "" "g.56343893T>G" "" "VUS" "" "0000935755" "0" "50" "16" "56377806" "56377806" "subst" "4.06161E-6" "04362" "GNAO1_000340" "g.56377806G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs765246895" "0" "" "" "g.56343894G>A" "" "VUS" "" "0000935756" "0" "50" "16" "56377808" "56377808" "subst" "0" "04362" "GNAO1_000341" "g.56377808T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1347798085" "0" "" "" "g.56343896T>G" "" "VUS" "" "0000935757" "0" "50" "16" "56377810" "56377810" "subst" "0" "04362" "GNAO1_000342" "g.56377810C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1429909588" "0" "" "" "g.56343898C>T" "" "VUS" "" "0000935758" "0" "50" "16" "56377813" "56377813" "subst" "8.12394E-6" "04362" "GNAO1_000343" "g.56377813T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1307303367" "0" "" "" "g.56343901T>C" "" "VUS" "" "0000935759" "0" "50" "16" "56377816" "56377816" "subst" "0.000138127" "04362" "GNAO1_000344" "g.56377816C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs200947037" "0" "" "" "g.56343904C>T" "" "VUS" "" "0000935760" "0" "50" "16" "56377821" "56377821" "subst" "0" "04362" "GNAO1_000345" "g.56377821G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1330301776" "0" "" "" "g.56343909G>A" "" "VUS" "" "0000935761" "0" "50" "16" "56377821" "56377821" "subst" "4.06299E-6" "04362" "GNAO1_000346" "g.56377821G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1330301776" "0" "" "" "g.56343909G>T" "" "VUS" "" "0000935762" "0" "50" "16" "56377827" "56377827" "subst" "4.06329E-6" "04362" "GNAO1_000347" "g.56377827A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs757621484" "0" "" "" "g.56343915A>G" "" "VUS" "" "0000935763" "0" "50" "16" "56377830" "56377830" "subst" "7.72289E-5" "04362" "GNAO1_000348" "g.56377830G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs201789251" "0" "" "" "g.56343918G>A" "" "VUS" "" "0000935764" "0" "50" "16" "56377837" "56377837" "subst" "0" "04362" "GNAO1_000349" "g.56377837A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596877596" "0" "" "" "g.56343925A>C" "" "VUS" "" "0000935765" "0" "30" "16" "56377842" "56377842" "subst" "2.03323E-5" "04362" "GNAO1_000026" "g.56377842C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs756529307" "0" "" "" "g.56343930C>T" "" "likely benign" "" "0000935766" "0" "50" "16" "56377843" "56377843" "subst" "2.44E-5" "04362" "GNAO1_000350" "g.56377843G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs780642028" "0" "" "" "g.56343931G>A" "" "VUS" "" "0000935767" "0" "50" "16" "56377849" "56377849" "subst" "0" "04362" "GNAO1_000351" "g.56377849G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs769077831" "0" "" "" "g.56343937G>A" "" "VUS" "" "0000935768" "0" "50" "16" "56377850" "56377850" "subst" "0" "04362" "GNAO1_000352" "g.56377850T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596877620" "0" "" "" "g.56343938T>G" "" "VUS" "" "0000935769" "0" "50" "16" "56377858" "56377858" "subst" "0" "04362" "GNAO1_000353" "g.56377858A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1479387344" "0" "" "" "g.56343946A>G" "" "VUS" "" "0000935770" "0" "70" "16" "56374904" "56374904" "subst" "0" "04362" "GNAO1_000040" "g.56374904A>G" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM2,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.56340992A>G" "" "VUS" "ACMG" "0000935771" "0" "50" "16" "56377698" "56377698" "subst" "0" "04362" "GNAO1_000288" "g.56377698G>C" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "rs539641021" "0" "" "" "g.56343786G>C" "" "VUS" "" "0000935772" "0" "70" "16" "56226215" "56226215" "subst" "0" "04362" "GNAO1_000057" "g.56226215T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192303T>C" "" "likely pathogenic" "" "0000935773" "0" "70" "16" "56226258" "56226260" "del" "0" "04362" "GNAO1_000063" "g.56226258_56226260del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192346_56192348del" "" "likely pathogenic" "" "0000935774" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000066" "g.56226265G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs886041715" "0" "" "" "g.56192353G>A" "" "pathogenic" "" "0000935775" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000021" "g.56226265G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs886041715" "0" "" "" "g.56192353G>C" "" "pathogenic" "" "0000935776" "0" "90" "16" "56226265" "56226265" "subst" "0" "04362" "GNAO1_000067" "g.56226265G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs886041715" "0" "" "" "g.56192353G>T" "" "pathogenic" "" "0000935777" "0" "90" "16" "56226486" "56226486" "subst" "0" "04362" "GNAO1_000068" "g.56226486G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs886041766" "0" "" "" "g.56192574G>A" "" "pathogenic" "" "0000935778" "0" "90" "16" "56226491" "56226491" "subst" "0" "04362" "GNAO1_000071" "g.56226491G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192579G>A" "" "pathogenic" "" "0000935779" "0" "90" "16" "56226500" "56226500" "subst" "0" "04362" "GNAO1_000029" "g.56226500G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs869312939" "0" "" "" "g.56192588G>C" "" "pathogenic" "" "0000935780" "0" "90" "16" "56226501" "56226501" "subst" "0" "04362" "GNAO1_000073" "g.56226501G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192589G>A" "" "pathogenic" "" "0000935781" "0" "90" "16" "56226503" "56226503" "subst" "0" "04362" "GNAO1_000074" "g.56226503A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192591A>G" "" "pathogenic" "" "0000935782" "0" "70" "16" "56226504" "56226504" "subst" "0" "04362" "GNAO1_000075" "g.56226504A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192592A>G" "" "likely pathogenic" "" "0000935783" "0" "70" "16" "56226505" "56226505" "subst" "0" "04362" "GNAO1_000076" "g.56226505A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192593A>T" "" "likely pathogenic" "" "0000935784" "0" "90" "16" "56226506" "56226506" "subst" "0" "04362" "GNAO1_000018" "g.56226506A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192594A>G" "" "pathogenic" "" "0000935785" "0" "70" "16" "56226508" "56226508" "subst" "0" "04362" "GNAO1_000022" "g.56226508C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192596C>A" "" "likely pathogenic" "" "0000935786" "0" "90" "16" "56226522" "56226522" "subst" "0" "04362" "GNAO1_000083" "g.56226522A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192610A>C" "" "pathogenic" "" "0000935787" "0" "90" "16" "56226522" "56226522" "subst" "0" "04362" "GNAO1_000084" "g.56226522A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56192610A>G" "" "pathogenic" "" "0000935788" "0" "50" "16" "56309845" "56309845" "subst" "0" "04362" "GNAO1_000034" "g.56309845T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56275933T>A" "" "VUS" "" "0000935789" "0" "70" "16" "56309848" "56309848" "subst" "0" "04362" "GNAO1_000086" "g.56309848T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56275936T>C" "" "likely pathogenic" "" "0000935790" "0" "50" "16" "56309851" "56309851" "subst" "0" "04362" "GNAO1_000087" "g.56309851A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56275939A>C" "" "VUS" "" "0000935791" "0" "50" "16" "56309899" "56309899" "subst" "0" "04362" "GNAO1_000092" "g.56309899T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56275987T>A" "" "VUS" "" "0000935792" "0" "90" "16" "56309901" "56309901" "subst" "0" "04362" "GNAO1_000007" "g.56309901T>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56275989T>G" "" "pathogenic" "" "0000935793" "0" "50" "16" "56362664" "56362664" "subst" "0" "04362" "GNAO1_000145" "g.56362664A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56328752A>C" "" "VUS" "" "0000935794" "0" "70" "16" "56368646" "56368646" "subst" "0" "04362" "GNAO1_000157" "g.56368646T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334734T>C" "" "likely pathogenic" "" "0000935795" "0" "70" "16" "56368661" "56368661" "subst" "0" "04362" "GNAO1_000161" "g.56368661G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1240134140" "0" "" "" "g.56334749G>A" "" "likely pathogenic" "" "0000935796" "0" "90" "16" "56368697" "56368697" "subst" "0" "04362" "GNAO1_000035" "g.56368697A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs587777055" "0" "" "" "g.56334785A>G" "" "pathogenic" "" "0000935797" "0" "90" "16" "56368696" "56368696" "subst" "0" "04362" "GNAO1_000173" "g.56368696G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1567488305" "0" "" "" "g.56334784G>A" "" "pathogenic" "" "0000935798" "0" "70" "16" "56368706" "56368706" "subst" "0" "04362" "GNAO1_000176" "g.56368706G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334794G>C" "" "likely pathogenic" "" "0000935799" "0" "90" "16" "56368711" "56368711" "subst" "0" "04362" "GNAO1_000177" "g.56368711A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56334799A>G" "" "pathogenic" "" "0000935800" "0" "90" "16" "56368721" "56368721" "subst" "0" "04362" "GNAO1_000179" "g.56368721C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596871452" "0" "" "" "g.56334809C>T" "" "pathogenic" "" "0000935801" "0" "90" "16" "56368726" "56368726" "subst" "0" "04362" "GNAO1_000038" "g.56368726G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "classification based on Kehrl et al., 2014" "SUMMARY record" "" "rs1555507383" "0" "" "" "g.56334814G>A" "" "pathogenic" "" "0000935802" "0" "70" "16" "56368726" "56368726" "subst" "0" "04362" "GNAO1_000180" "g.56368726G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555507383" "0" "" "" "g.56334814G>C" "" "likely pathogenic" "" "0000935803" "0" "90" "16" "56368748" "56368768" "del" "0" "04362" "GNAO1_000036" "g.56368748_56368768del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs587777056" "0" "" "" "g.56334836_56334856del" "" "pathogenic" "" "0000935804" "0" "70" "16" "56370641" "56370641" "del" "0" "04362" "GNAO1_000185" "g.56370641del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336729del" "" "likely pathogenic" "" "0000935805" "0" "90" "16" "56370645" "56370645" "subst" "0" "04362" "GNAO1_000039" "g.56370645T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336733T>C" "" "pathogenic" "" "0000935806" "0" "90" "16" "56370656" "56370656" "subst" "0" "04362" "GNAO1_000003" "g.56370656G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs587777057" "0" "" "" "g.56336744G>A" "" "pathogenic" "" "0000935807" "0" "90" "16" "56370659" "56370659" "subst" "0" "04362" "GNAO1_000193" "g.56370659G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336747G>C" "" "pathogenic" "" "0000935808" "0" "90" "16" "56370660" "56370660" "subst" "0" "04362" "GNAO1_000194" "g.56370660G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336748G>T" "" "pathogenic" "" "0000935809" "0" "70" "16" "56370665" "56370665" "subst" "0" "04362" "GNAO1_000027" "g.56370665C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336753C>T" "" "likely pathogenic" "" "0000935810" "0" "90" "16" "56370666" "56370666" "subst" "0" "04362" "GNAO1_000196" "g.56370666G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1297225571" "0" "" "" "g.56336754G>A" "" "pathogenic" "" "0000935811" "0" "90" "16" "56370666" "56370666" "subst" "0" "04362" "GNAO1_000197" "g.56370666G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1297225571" "0" "" "" "g.56336754G>T" "" "pathogenic" "" "0000935812" "0" "90" "16" "56370669" "56370669" "subst" "0" "04362" "GNAO1_000198" "g.56370669C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336757C>T" "" "pathogenic" "" "0000935813" "0" "90" "16" "56370669" "56370669" "subst" "0" "04362" "GNAO1_000199" "g.56370669C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1057518440" "0" "" "" "g.56336757C>A" "" "pathogenic" "" "0000935814" "0" "90" "16" "56370671" "56370671" "subst" "0" "04362" "GNAO1_000019" "g.56370671G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336759G>C" "" "pathogenic" "" "0000935815" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000200" "g.56370674C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs886039494" "0" "" "" "g.56336762C>G" "" "pathogenic" "" "0000935816" "0" "90" "16" "56370674" "56370674" "subst" "0" "04362" "GNAO1_000005" "g.56370674C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs886039494" "0" "" "" "g.56336762C>T" "" "pathogenic" "" "0000935817" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000012" "g.56370675G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs797044878" "0" "" "" "g.56336763G>A" "" "pathogenic" "" "0000935818" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000201" "g.56370675G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336763G>C" "" "pathogenic" "" "0000935819" "0" "90" "16" "56370675" "56370675" "subst" "0" "04362" "GNAO1_000202" "g.56370675G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs797044878" "0" "" "" "g.56336763G>T" "" "pathogenic" "" "0000935820" "0" "90" "16" "56370693" "56370693" "subst" "0" "04362" "GNAO1_000203" "g.56370693G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336781G>A" "" "pathogenic" "" "0000935821" "0" "90" "16" "56370711" "56370711" "subst" "0" "04362" "GNAO1_000208" "g.56370711C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555507479" "0" "" "" "g.56336799C>A" "" "pathogenic" "" "0000935822" "0" "70" "16" "56370723" "56370723" "subst" "0" "04362" "GNAO1_000209" "g.56370723G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336811G>A" "" "likely pathogenic" "" "0000935823" "0" "70" "16" "56370725" "56370726" "del" "0" "04362" "GNAO1_000210" "g.56370725_56370726del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1064797211" "0" "" "" "g.56336813_56336814del" "" "likely pathogenic" "" "0000935824" "0" "90" "16" "56370729" "56370729" "subst" "0" "04362" "GNAO1_000002" "g.56370729C>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs797045599" "0" "" "" "g.56336817C>T" "" "pathogenic" "" "0000935825" "0" "70" "16" "56370732" "56370732" "subst" "0" "04362" "GNAO1_000211" "g.56370732T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1085307932" "0" "" "" "g.56336820T>C" "" "likely pathogenic" "" "0000935826" "0" "90" "16" "56370736" "56370736" "subst" "0" "04362" "GNAO1_000041" "g.56370736C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "classification based on unpublished functional data" "SUMMARY record" "" "rs546569747" "0" "" "" "g.56336824C>A" "" "pathogenic" "" "0000935827" "0" "90" "16" "56370736" "56370736" "subst" "0" "04362" "GNAO1_000212" "g.56370736C>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336824C>G" "" "pathogenic" "" "0000935828" "0" "90" "16" "56370741" "56370741" "subst" "0" "04362" "GNAO1_000215" "g.56370741A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1057518678" "0" "" "" "g.56336829A>G" "" "pathogenic" "" "0000935829" "0" "70" "16" "56370747" "56370747" "subst" "0" "04362" "GNAO1_000216" "g.56370747A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336835A>C" "" "likely pathogenic" "" "0000935830" "0" "90" "16" "56370758" "56370758" "subst" "0" "04362" "GNAO1_000218" "g.56370758G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1064794533" "0" "" "" "g.56336846G>A" "" "pathogenic" "" "0000935831" "0" "70" "16" "56370762" "56370762" "subst" "0" "04362" "GNAO1_000219" "g.56370762A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336850A>G" "" "likely pathogenic" "" "0000935832" "0" "90" "16" "56370773" "56370773" "subst" "0" "04362" "GNAO1_000006" "g.56370773G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596872804" "0" "" "" "g.56336861G>A" "" "pathogenic" "" "0000935833" "0" "70" "16" "56370773" "56370773" "subst" "0" "04362" "GNAO1_000223" "g.56370773G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596872804" "0" "" "" "g.56336861G>T" "" "likely pathogenic" "" "0000935834" "0" "70" "16" "56370774" "56370774" "subst" "0" "04362" "GNAO1_000224" "g.56370774T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56336862T>A" "" "likely pathogenic" "" "0000935835" "0" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1085307876" "0" "" "" "g.56351376G>A" "" "pathogenic" "" "0000935836" "0" "90" "16" "56385297" "56385297" "subst" "0" "04362" "GNAO1_000354" "g.56385297A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1085307894" "0" "" "" "g.56351385A>C" "" "pathogenic" "" "0000935837" "0" "70" "16" "56385302" "56385303" "delins" "0" "04362" "GNAO1_000043" "g.56385302_56385303delinsCG" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351390_56351391delinsCG" "" "likely pathogenic" "" "0000935838" "0" "90" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000004" "g.56385308G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs797044951" "0" "" "" "g.56351396G>A" "" "pathogenic" "" "0000935839" "0" "70" "16" "56385308" "56385308" "subst" "0" "04362" "GNAO1_000358" "g.56385308G>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs797044951" "0" "" "" "g.56351396G>C" "" "likely pathogenic" "" "0000935840" "0" "70" "16" "56385307" "56385309" "dup" "0" "04362" "GNAO1_000357" "g.56385307_56385309dup" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351395_56351397dup" "" "likely pathogenic" "" "0000935841" "0" "70" "16" "56385309" "56385309" "subst" "0" "04362" "GNAO1_000359" "g.56385309A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1114167431" "0" "" "" "g.56351397A>G" "" "likely pathogenic" "" "0000935842" "0" "70" "16" "56385309" "56385309" "subst" "0" "04362" "GNAO1_000360" "g.56385309A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351397A>T" "" "likely pathogenic" "" "0000935843" "0" "70" "16" "56385337" "56385337" "dup" "0" "04362" "GNAO1_000366" "g.56385337dup" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351425dup" "" "likely pathogenic" "" "0000935844" "0" "90" "16" "56385380" "56385380" "subst" "0" "04362" "GNAO1_000370" "g.56385380A>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351468A>C" "" "pathogenic" "" "0000935845" "0" "90" "16" "56385380" "56385380" "subst" "0" "04362" "GNAO1_000371" "g.56385380A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "classification based on in vitro analysis (Slepak et al., 1993)" "SUMMARY record" "" "" "0" "" "" "g.56351468A>G" "" "pathogenic" "" "0000935846" "0" "70" "16" "56385382" "56385382" "subst" "0" "04362" "GNAO1_000373" "g.56385382C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351470C>A" "" "likely pathogenic" "" "0000935847" "0" "70" "16" "56385389" "56385389" "subst" "0" "04362" "GNAO1_000376" "g.56385389G>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351477G>T" "" "likely pathogenic" "" "0000935848" "0" "70" "16" "56385390" "56385390" "subst" "0" "04362" "GNAO1_000377" "g.56385390A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037920694" "0" "" "" "g.56351478A>T" "" "likely pathogenic" "" "0000935849" "0" "90" "16" "56385396" "56385396" "subst" "0" "04362" "GNAO1_000378" "g.56385396T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351484T>C" "" "pathogenic" "" "0000935851" "0" "90" "16" "56385408" "56385408" "subst" "0" "04362" "GNAO1_000008" "g.56385408T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs587777054" "0" "" "" "g.56351496T>A" "" "pathogenic" "" "0000935852" "0" "90" "16" "56385423" "56385423" "subst" "0" "04362" "GNAO1_000381" "g.56385423T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1555508316" "0" "" "" "g.56351511T>C" "" "pathogenic" "" "0000935853" "0" "50" "16" "56385435" "56385435" "subst" "0" "04362" "GNAO1_000384" "g.56385435T>C" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351523T>C" "" "VUS" "" "0000935854" "0" "90" "16" "56385443" "56385443" "subst" "0" "04362" "GNAO1_000386" "g.56385443T>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1064795384" "0" "" "" "g.56351531T>A" "" "pathogenic" "" "0000935855" "0" "70" "16" "56385444" "56385444" "subst" "0" "04362" "GNAO1_000387" "g.56385444A>G" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56351532A>G" "" "likely pathogenic" "" "0000935856" "0" "70" "16" "56388804" "56388806" "del" "0" "04362" "GNAO1_000397" "g.56388804_56388806del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56354892_56354894del" "" "likely pathogenic" "" "0000935857" "0" "70" "16" "56388880" "56388880" "subst" "0" "04362" "GNAO1_000407" "g.56388880C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56354968C>A" "" "likely pathogenic" "" "0000935858" "0" "50" "16" "56388886" "56388886" "del" "0" "04362" "GNAO1_000410" "g.56388886del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56354974del" "" "VUS" "" "0000935859" "0" "70" "16" "56388913" "56388915" "del" "0" "04362" "GNAO1_000412" "g.56388913_56388915del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56355001_56355003del" "" "likely pathogenic" "" "0000935860" "0" "90" "16" "56388930" "56388932" "del" "0" "04362" "GNAO1_000016" "g.56388930_56388932del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037954707" "0" "" "" "g.56355018_56355020del" "" "pathogenic" "" "0000935861" "0" "50" "16" "56226205" "56226205" "subst" "0" "04362" "GNAO1_000056" "g.56226205G>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2036182701" "0" "" "" "g.56192293G>A" "" "VUS" "" "0000935862" "0" "50" "16" "56374748" "56374748" "subst" "0" "04362" "GNAO1_000226" "g.56374748C>A" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1596875462" "0" "" "" "g.56340836C>A" "" "VUS" "" "0000935863" "0" "50" "16" "56377765" "56377767" "del" "4.06263E-6" "04362" "GNAO1_000327" "g.56377765_56377767del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1567492756" "0" "" "" "g.56343853_56343855del" "" "VUS" "" "0000935864" "0" "50" "16" "56377726" "56377727" "del" "0" "04362" "GNAO1_000305" "g.56377726_56377727del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1420071418" "0" "" "" "g.56343814_56343815del" "" "VUS" "" "0000935865" "0" "50" "16" "56377728" "56377729" "del" "0" "04362" "GNAO1_000306" "g.56377728_56377729del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1409363778" "0" "" "" "g.56343816_56343817del" "" "VUS" "" "0000935866" "0" "50" "16" "56377728" "56377739" "del" "0" "04362" "GNAO1_000307" "g.56377728_56377739del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037832412" "0" "" "" "g.56343816_56343827del" "" "VUS" "" "0000935867" "0" "50" "16" "56377732" "56377741" "del" "0" "04362" "GNAO1_000314" "g.56377732_56377741del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs2037832718" "0" "" "" "g.56343820_56343829del" "" "VUS" "" "0000935868" "0" "50" "16" "56377720" "56377721" "ins" "0" "04362" "GNAO1_000298" "g.56377720_56377721insTTTTTTTTTTAATGATA" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1194554518" "0" "" "" "g.56343808_56343809insTTTTTTTTTTAATGATA" "" "VUS" "" "0000935869" "0" "50" "16" "56377724" "56377725" "ins" "0" "04362" "GNAO1_000303" "g.56377724_56377725insTTTTTT" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1188366062" "0" "" "" "g.56343812_56343813insTTTTTT" "" "VUS" "" "0000935870" "0" "50" "16" "56377731" "56377732" "ins" "0" "04362" "GNAO1_000311" "g.56377731_56377732insT" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1383201691" "0" "" "" "g.56343819_56343820insT" "" "VUS" "" "0000935871" "0" "50" "16" "56377741" "56377742" "ins" "0" "04362" "GNAO1_000320" "g.56377741_56377742insGA" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1324750822" "0" "" "" "g.56343829_56343830insGA" "" "VUS" "" "0000935872" "0" "30" "16" "56385343" "56385345" "del" "0" "04362" "GNAO1_000367" "g.56385343_56385345del" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs1567496374" "0" "" "" "g.56351431_56351433del" "" "likely benign" "" "0000935873" "0" "50" "16" "56388937" "56388937" "subst" "0" "04362" "GNAO1_000415" "g.56388937A>T" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "rs372737966" "0" "" "" "g.56355025A>T" "" "VUS" "" "0000935874" "0" "50" "16" "56388946" "56388955" "delins" "0" "04362" "GNAO1_000416" "g.56388946_56388955delinsN[10]" "" "{DOI:Saez Gonzalez 2023:10.1155/2023/6628283}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.56355034_56355043delinsN[10]" "" "VUS" "" "0000935875" "20" "90" "16" "56385288" "56385288" "subst" "0" "04362" "GNAO1_000014" "g.56385288G>A" "" "{PMID:Vasconcellos 2023:37034444}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000935876" "0" "90" "16" "56226265" "56226265" "subst" "0" "00006" "GNAO1_000021" "g.56226265G>C" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM2, PM5, PP3, PS1, PM1, PP2, PP5, PS2" "De novo" "" "" "0" "" "" "g.56192353G>C" "" "pathogenic (dominant)" "ACMG" "0000935877" "0" "90" "16" "56226504" "56226504" "subst" "0" "00006" "GNAO1_000075" "g.56226504A>G" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56192592A>G" "" "pathogenic (dominant)" "ACMG" "0000935878" "0" "90" "16" "56226510" "56226510" "subst" "0" "00006" "GNAO1_000079" "g.56226510C>T" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56192598C>T" "" "pathogenic (dominant)" "ACMG" "0000935879" "0" "90" "16" "56368721" "56368721" "subst" "0" "00006" "GNAO1_000179" "g.56368721C>T" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM2, PM1, PP2, PP3, PP5, PS2" "De novo" "" "" "0" "" "" "g.56334809C>T" "" "pathogenic (dominant)" "ACMG" "0000935880" "0" "90" "16" "56368721" "56368721" "subst" "0" "00006" "GNAO1_000179" "g.56368721C>T" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM2, PM1, PP2, PP3, PP5, PS2" "De novo" "" "" "0" "" "" "g.56334809C>T" "" "pathogenic (dominant)" "ACMG" "0000935881" "0" "90" "16" "56370675" "56370675" "subst" "0" "00006" "GNAO1_000201" "g.56370675G>C" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56336763G>C" "" "pathogenic (dominant)" "ACMG" "0000935882" "0" "90" "16" "56370741" "56370741" "subst" "0" "00006" "GNAO1_000215" "g.56370741A>G" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM1, PM2, PP3, PP5, PP2, PS2" "De novo" "" "" "0" "" "" "g.56336829A>G" "" "pathogenic (dominant)" "ACMG" "0000935883" "0" "90" "16" "56370753" "56370753" "subst" "0" "00006" "GNAO1_000217" "g.56370753T>C" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM2, PM1, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56336841T>C" "" "pathogenic (dominant)" "ACMG" "0000935884" "0" "90" "16" "56385443" "56385443" "subst" "0" "00006" "GNAO1_000386" "g.56385443T>A" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM2, PM1, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56351531T>A" "" "pathogenic (dominant)" "ACMG" "0000935885" "0" "90" "16" "56370656" "56370656" "subst" "0" "00006" "GNAO1_000191" "g.56370656G>C" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM1, PM2, PS1, PM5, PP5, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56336744G>C" "" "pathogenic (dominant)" "ACMG" "0000935886" "0" "90" "16" "56370656" "56370656" "subst" "0" "00006" "GNAO1_000191" "g.56370656G>C" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM1, PM2, PS1, PM5, PP5, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56336744G>C" "" "pathogenic (dominant)" "ACMG" "0000935887" "0" "90" "16" "56370656" "56370656" "subst" "0" "00006" "GNAO1_000191" "g.56370656G>C" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PM1, PM2, PS1, PM5, PP5, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56336744G>C" "" "pathogenic (dominant)" "ACMG" "0000935888" "0" "90" "16" "56370674" "56370674" "subst" "0" "00006" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PP5, PM1, PM5, PM2, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56336762C>T" "" "pathogenic (dominant)" "ACMG" "0000935889" "0" "90" "16" "56370674" "56370674" "subst" "0" "00006" "GNAO1_000005" "g.56370674C>T" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PP5, PM1, PM5, PM2, PP2, PP3, PS2" "De novo" "" "" "0" "" "" "g.56336762C>T" "" "pathogenic (dominant)" "ACMG" "0000935890" "0" "90" "16" "56370758" "56370758" "subst" "0" "00006" "GNAO1_000218" "g.56370758G>A" "" "{PMID:Domínguez-Carral 2023:37548038}" "" "" "ACMG PP5, PM2, PM1, PP2, PP3" "De novo" "" "" "0" "" "" "g.56336846G>A" "" "pathogenic (dominant)" "ACMG" "0000935906" "0" "90" "16" "29825024" "29825024" "dup" "0" "00006" "GNAO1_000420" "g.29825024dup" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic (dominant)" "" "0000935910" "0" "90" "16" "2137899" "2137906" "dup" "0" "00006" "GNAO1_000049" "g.2137899_2137906dup" "" "{PMID:Chuan 2022:35571021}" "" "5025_5032dupGCTGGACT" "ACMG PVS1,PM2,PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.2087898_2087905dup" "" "pathogenic (dominant)" "ACMG" "0000935911" "0" "90" "16" "29825024" "29825024" "dup" "0" "00006" "GNAO1_000420" "g.29825024dup" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic (dominant)" "" "0000935917" "0" "90" "16" "29825024" "29825024" "dup" "0" "00006" "GNAO1_000420" "g.29825024dup" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic (dominant)" "" "0000935921" "0" "90" "16" "29825024" "29825024" "dup" "0" "00006" "GNAO1_000420" "g.29825024dup" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic (dominant)" "" "0000935934" "0" "70" "16" "9934612" "9934612" "subst" "0" "00006" "GNAO1_000050" "g.9934612T>G" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.9840755T>G" "" "likely pathogenic (dominant)" "ACMG" "0000935952" "0" "90" "16" "29825024" "29825024" "dup" "0" "00006" "GNAO1_000420" "g.29825024dup" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic (dominant)" "" "0000935953" "0" "90" "16" "150408" "150408" "dup" "0" "00006" "GNAO1_000044" "g.150408dup" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PM2,PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.100410dup" "" "pathogenic (dominant)" "ACMG" "0000935978" "1" "90" "16" "2106229" "2106229" "subst" "4.10085E-6" "00006" "GNAO1_000047" "g.2106229C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline" "" "" "0" "" "" "g.2056228C>T" "" "pathogenic (dominant)" "" "0000935979" "0" "90" "16" "29825024" "29825024" "dup" "0" "00006" "GNAO1_000420" "g.29825024dup" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813703dup" "" "pathogenic (dominant)" "" "0000935980" "0" "90" "16" "1270858" "1270859" "del" "0" "00006" "GNAO1_000046" "g.1270858_1270859del" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PM2,PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.1220858_1220859del" "" "pathogenic (dominant)" "ACMG" "0000935984" "0" "70" "16" "1257324" "1257324" "subst" "0" "00006" "GNAO1_000045" "g.1257324C>A" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.1207324C>A" "" "likely pathogenic (dominant)" "ACMG" "0000935998" "0" "70" "16" "31008370" "31008370" "subst" "0" "00006" "GNAO1_000052" "g.31008370A>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.30997049A>T" "" "likely pathogenic (dominant)" "ACMG" "0000936016" "0" "70" "16" "29825223" "29825223" "subst" "0" "00006" "GNAO1_000051" "g.29825223T>C" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.29813902T>C" "" "likely pathogenic (dominant)" "ACMG" "0000936039" "2" "90" "16" "2111920" "2111920" "subst" "0" "00006" "GNAO1_000048" "g.2111920A>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline" "" "" "0" "" "" "g.2061919A>T" "" "pathogenic" "" "0000936043" "0" "90" "16" "56309844" "56309845" "del" "0" "00006" "GNAO1_000042" "g.56309844_56309845del" "" "{PMID:Galosi 2023:37632268}" "" "" "mRNA expression 0.5, no truncated protein detected" "De novo" "" "" "0" "" "" "g.56275932_56275933del" "" "pathogenic (dominant)" "" "0000936465" "0" "90" "16" "56370656" "56370656" "subst" "0" "00006" "GNAO1_000003" "g.56370656G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_138736:c.G607A (G203R)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000939803" "0" "70" "16" "56226265" "56226265" "subst" "0" "00006" "GNAO1_000066" "g.56226265G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.56192353G>A" "" "likely pathogenic (dominant)" "" "0000968404" "0" "50" "16" "56388945" "56388945" "subst" "0" "02325" "GNAO1_000421" "g.56388945C>T" "" "" "" "GNAO1(NM_020988.3):c.1045C>T (p.R349W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981947" "0" "30" "16" "56375140" "56375140" "subst" "0" "01804" "GNAO1_000422" "g.56375140G>A" "" "" "" "GNAO1(NM_020988.3):c.723+4368G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002428" "0" "30" "16" "56309961" "56309961" "subst" "0" "01804" "GNAO1_000108" "g.56309961G>A" "" "" "" "GNAO1(NM_020988.2):c.280G>A (p.(Glu94Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002429" "0" "50" "16" "56362687" "56362687" "subst" "0" "01804" "GNAO1_000031" "g.56362687A>C" "" "" "" "GNAO1(NM_020988.2):c.448A>C (p.(Asn150His)), GNAO1(NM_138736.2):c.448A>C (p.N150H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002430" "0" "50" "16" "56388794" "56388794" "subst" "0" "01804" "GNAO1_000394" "g.56388794A>T" "" "" "" "GNAO1(NM_020988.2):c.894A>T (p.(Glu298Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008582" "1" "50" "16" "56362639" "56362639" "subst" "4.06081E-6" "00095" "GNAO1_000139" "g.56362639G>A" "" "{PMID:Legati 2016:26968897}" "" "D134N" "" "Germline" "" "" "0" "" "" "g.56328727G>A" "" "VUS" "" "0001008594" "0" "50" "16" "56368670" "56368670" "subst" "0" "00095" "GNAO1_000166" "g.56368670C>T" "" "{PMID:Legati 2016:26968897}" "" "A165V" "" "Germline" "" "" "0" "" "" "g.56334758C>T" "" "VUS" "" "0001011143" "0" "50" "16" "56368660" "56368660" "subst" "0" "00006" "GNAO1_000423" "g.56368660C>G" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "Germline" "" "" "0" "" "" "g.56334748C>G" "" "VUS" "" "0001011988" "0" "90" "16" "56370675" "56370675" "subst" "0" "00006" "GNAO1_000012" "g.56370675G>A" "" "{PMID:Salinas 2020:33084218}" "" "NM_138736.3:c.626G>A" "" "Unknown" "" "" "0" "" "" "g.56336763G>A" "VCV000208677.4" "pathogenic" "" "0001015396" "0" "30" "16" "56368689" "56368689" "subst" "0" "02325" "GNAO1_000424" "g.56368689C>A" "" "" "" "GNAO1(NM_020988.3):c.513C>A (p.T171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041196" "0" "50" "16" "56309851" "56309851" "subst" "0" "01804" "GNAO1_000425" "g.56309851A>G" "" "" "" "GNAO1(NM_020988.3):c.170A>G (p.(His57Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041197" "0" "70" "16" "56368687" "56368687" "subst" "0" "01804" "GNAO1_000426" "g.56368687A>C" "" "" "" "GNAO1(NM_020988.3):c.511A>C (p.(Thr171Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041198" "0" "30" "16" "56377830" "56377830" "subst" "7.72289E-5" "01804" "GNAO1_000348" "g.56377830G>A" "" "" "" "GNAO1(NM_138736.3):c.1033G>A (p.(Ala345Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041199" "0" "30" "16" "56378335" "56378335" "subst" "0" "01804" "GNAO1_000427" "g.56378335A>G" "" "" "" "GNAO1(NM_138736.3):c.*473A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047727" "0" "50" "16" "56368706" "56368706" "subst" "0" "03779" "GNAO1_000428" "g.56368706G>A" "" "" "" "" "" "Unknown" "" "rs2506872117" "0" "" "" "" "" "VUS" "" "0001055596" "0" "50" "16" "56377805" "56377805" "subst" "0" "01804" "GNAO1_000339" "g.56377805T>G" "" "" "" "GNAO1(NM_138736.3):c.1008T>G (p.(Phe336Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GNAO1 ## Count = 1342 "{{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}}" "0000013577" "00001568" "30" "464" "178" "464" "178" "c.464+178A>C" "r.(?)" "p.(=)" "4i" "0000013577" "00025848" "30" "464" "178" "464" "178" "c.464+178A>C" "r.(?)" "p.(=)" "" "0000060770" "00001568" "70" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "6" "0000060770" "00025848" "70" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "6" "0000060771" "00001568" "70" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "6" "0000060771" "00025848" "70" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "6" "0000060772" "00001568" "70" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "7" "0000060773" "00001568" "70" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "6" "0000060773" "00025848" "70" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "6" "0000079368" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000079368" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000079372" "00001568" "90" "220" "0" "220" "0" "c.220T>G" "r.(?)" "p.(Tyr74Asp)" "" "0000079372" "00025848" "90" "220" "0" "220" "0" "c.220T>G" "r.(?)" "p.(Tyr74Asp)" "" "0000079399" "00001568" "90" "723" "1" "723" "1" "c.723+1G>A" "r.spl" "p.?" "" "0000079399" "00025848" "90" "723" "1" "723" "1" "c.723+1G>A" "r.spl" "p.?" "" "0000147296" "00001568" "90" "836" "0" "836" "0" "c.836T>A" "r.(?)" "p.(Ile279Asn)" "7" "0000147296" "00025848" "90" "5314" "3297" "5314" "3297" "c.*7546T>A" "" "" "" "0000188236" "00001568" "00" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0000188236" "00025848" "50" "433" "0" "433" "0" "c.433C>T" "" "" "" "0000281095" "00001568" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "" "0000281095" "00025848" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "" "0000283376" "00001568" "90" "833" "0" "835" "0" "c.833_835del" "r.(?)" "p.(Lys278del)" "" "0000283376" "00025848" "90" "8608" "0" "8610" "0" "c.*7543_*7545del" "r.(=)" "p.(=)" "" "0000284725" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000284725" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000284726" "00001568" "70" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000284726" "00025848" "70" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000284727" "00001568" "30" "724" "-9" "724" "-9" "c.724-9C>T" "r.(=)" "p.(=)" "" "0000284727" "00025848" "30" "8490" "0" "8490" "0" "c.*7425C>T" "r.(=)" "p.(=)" "" "0000288529" "00001568" "30" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Glu25=)" "" "0000288529" "00025848" "30" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Glu25=)" "" "0000324794" "00001568" "70" "724" "-8" "724" "-8" "c.724-8G>A" "r.(=)" "p.(=)" "" "0000324794" "00025848" "70" "8491" "0" "8491" "0" "c.*7426G>A" "r.(=)" "p.(=)" "" "0000324795" "00001568" "50" "1030" "0" "1032" "0" "c.1030_1032del" "r.(?)" "p.(Ile344del)" "" "0000324795" "00025848" "50" "12133" "0" "12135" "0" "c.*11068_*11070del" "r.(=)" "p.(=)" "" "0000345230" "00001568" "90" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Glu208Gln)" "" "0000345230" "00025848" "90" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Glu208Gln)" "" "0000349042" "00001568" "70" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "0000349042" "00025848" "70" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "0000368954" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000368954" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000558479" "00001568" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Cys3Tyr)" "" "0000558479" "00025848" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Cys3Tyr)" "" "0000558480" "00001568" "70" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000558480" "00025848" "70" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000558481" "00001568" "70" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Ser47Arg)" "" "0000558481" "00025848" "70" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Ser47Arg)" "" "0000558482" "00001568" "30" "161" "8" "161" "8" "c.161+8C>T" "r.(=)" "p.(=)" "" "0000558482" "00025848" "30" "161" "8" "161" "8" "c.161+8C>T" "r.(=)" "p.(=)" "" "0000558483" "00001568" "30" "593" "12" "593" "12" "c.593+12A>C" "r.(=)" "p.(=)" "" "0000558483" "00025848" "30" "593" "12" "593" "12" "c.593+12A>C" "r.(=)" "p.(=)" "" "0000558484" "00001568" "70" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000558484" "00025848" "70" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000616040" "00001568" "30" "723" "7070" "723" "7070" "c.723+7070C>T" "r.(=)" "p.(=)" "" "0000616040" "00025848" "30" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Arg349Trp)" "" "0000624904" "00001568" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000624904" "00025848" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000657871" "00001568" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asp158Gly)" "" "0000657871" "00025848" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asp158Gly)" "" "0000663287" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000667492" "00001568" "90" "133" "0" "133" "0" "c.133G>C" "r.(?)" "p.(Gly45Arg)" "" "0000667492" "00025848" "90" "133" "0" "133" "0" "c.133G>C" "r.(?)" "p.(Gly45Arg)" "" "0000667497" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000698178" "00001568" "90" "124" "0" "124" "0" "c.124G>C" "r.(?)" "p.(Gly42Arg)" "" "0000698178" "00025848" "90" "124" "0" "124" "0" "c.124G>C" "r.(?)" "p.(Gly42Arg)" "" "0000725843" "00001568" "30" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Glu25=)" "" "0000725843" "00025848" "30" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Glu25=)" "" "0000725844" "00001568" "50" "448" "0" "448" "0" "c.448A>C" "r.(?)" "p.(Asn150His)" "" "0000725844" "00025848" "50" "448" "0" "448" "0" "c.448A>C" "r.(?)" "p.(Asn150His)" "" "0000725845" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000725845" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000725846" "00001568" "30" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(Gly276=)" "" "0000725846" "00025848" "30" "8603" "0" "8603" "0" "c.*7538C>T" "r.(=)" "p.(=)" "" "0000807451" "00001568" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Glu9=)" "" "0000807451" "00025848" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Glu9=)" "" "0000841178" "00001568" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000841178" "00025848" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000864846" "00001568" "50" "164" "0" "164" "0" "c.164T>A" "r.(?)" "p.(Ile55Asn)" "" "0000864846" "00025848" "50" "164" "0" "164" "0" "c.164T>A" "r.(?)" "p.(Ile55Asn)" "" "0000871841" "00001568" "90" "836" "0" "836" "0" "c.836T>A" "r.(?)" "p.(Ile279Asn)" "" "0000871842" "00001568" "90" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asp174Gly)" "" "0000871842" "00025848" "90" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asp174Gly)" "" "0000871843" "00001568" "90" "572" "0" "592" "0" "c.572_592del" "r.(?)" "p.(Thr191_Phe197del)" "" "0000871843" "00025848" "90" "572" "0" "592" "0" "c.572_592del" "r.(?)" "p.(Thr191_Phe197del)" "" "0000871844" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000871844" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000914644" "00001568" "70" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Lys)" "" "0000914644" "00025848" "70" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Lys)" "" "0000926304" "00001568" "70" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Ser)" "" "0000926304" "00025848" "70" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Ser)" "" "0000935202" "00001568" "70" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Leu23Pro)" "" "0000935202" "00025848" "70" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Leu23Pro)" "" "0000935203" "00001568" "70" "111" "0" "113" "0" "c.111_113del" "r.(?)" "p.(Leu39del)" "" "0000935203" "00025848" "70" "111" "0" "113" "0" "c.111_113del" "r.(?)" "p.(Leu39del)" "" "0000935204" "00001568" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000935204" "00025848" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000935205" "00001568" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000935205" "00025848" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000935206" "00001568" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000935206" "00025848" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000935207" "00001568" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935207" "00025848" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935208" "00001568" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935208" "00025848" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935209" "00001568" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935209" "00025848" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935210" "00001568" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935210" "00025848" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935211" "00001568" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935211" "00025848" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935212" "00001568" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935212" "00025848" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935213" "00001568" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935213" "00025848" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935214" "00001568" "90" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Gly40Trp)" "" "0000935214" "00025848" "90" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Gly40Trp)" "" "0000935215" "00001568" "90" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Gly40Trp)" "" "0000935215" "00025848" "90" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Gly40Trp)" "" "0000935216" "00001568" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Gly40Glu)" "" "0000935216" "00025848" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Gly40Glu)" "" "0000935217" "00001568" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Gly40Glu)" "" "0000935217" "00025848" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Gly40Glu)" "" "0000935218" "00001568" "90" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Gly42Arg)" "" "0000935218" "00025848" "90" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Gly42Arg)" "" "0000935219" "00001568" "90" "133" "0" "133" "0" "c.133G>C" "r.(?)" "p.(Gly45Arg)" "" "0000935219" "00025848" "90" "133" "0" "133" "0" "c.133G>C" "r.(?)" "p.(Gly45Arg)" "" "0000935220" "00001568" "90" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Gly45Glu)" "" "0000935220" "00025848" "90" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Gly45Glu)" "" "0000935221" "00001568" "90" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Lys46Glu)" "" "0000935221" "00025848" "90" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Lys46Glu)" "" "0000935222" "00001568" "70" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000935222" "00025848" "70" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000935223" "00001568" "70" "138" "0" "138" "0" "c.138A>T" "r.(?)" "p.(Lys46Asn)" "" "0000935223" "00025848" "70" "138" "0" "138" "0" "c.138A>T" "r.(?)" "p.(Lys46Asn)" "" "0000935224" "00001568" "90" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "0000935224" "00025848" "90" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "0000935225" "00001568" "90" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "0000935225" "00025848" "90" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "0000935226" "00001568" "70" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Ser47Arg)" "" "0000935226" "00025848" "70" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Ser47Arg)" "" "0000935227" "00001568" "90" "155" "0" "155" "0" "c.155A>C" "r.(?)" "p.(Gln52Pro)" "" "0000935227" "00025848" "90" "155" "0" "155" "0" "c.155A>C" "r.(?)" "p.(Gln52Pro)" "" "0000935228" "00001568" "90" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Gln52Arg)" "" "0000935228" "00025848" "90" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Gln52Arg)" "" "0000935229" "00001568" "50" "164" "0" "164" "0" "c.164T>A" "r.(?)" "p.(Ile55Asn)" "" "0000935229" "00025848" "50" "164" "0" "164" "0" "c.164T>A" "r.(?)" "p.(Ile55Asn)" "" "0000935230" "00001568" "70" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Ile56Thr)" "" "0000935230" "00025848" "70" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Ile56Thr)" "" "0000935231" "00001568" "50" "170" "0" "170" "0" "c.170A>C" "r.(?)" "p.(His57Pro)" "" "0000935231" "00025848" "50" "170" "0" "170" "0" "c.170A>C" "r.(?)" "p.(His57Pro)" "" "0000935232" "00001568" "50" "218" "0" "218" "0" "c.218T>A" "r.(?)" "p.(Val73Asp)" "" "0000935232" "00025848" "50" "218" "0" "218" "0" "c.218T>A" "r.(?)" "p.(Val73Asp)" "" "0000935233" "00001568" "90" "220" "0" "220" "0" "c.220T>G" "r.(?)" "p.(Tyr74Asp)" "" "0000935233" "00025848" "90" "220" "0" "220" "0" "c.220T>G" "r.(?)" "p.(Tyr74Asp)" "" "0000935234" "00001568" "50" "425" "0" "425" "0" "c.425A>C" "r.(?)" "p.(Asn142Thr)" "" "0000935234" "00025848" "50" "425" "0" "425" "0" "c.425A>C" "r.(?)" "p.(Asn142Thr)" "" "0000935235" "00001568" "70" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Leu157Pro)" "" "0000935235" "00025848" "70" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Leu157Pro)" "" "0000935236" "00001568" "70" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Leu157Pro)" "" "0000935236" "00025848" "70" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Leu157Pro)" "" "0000935237" "00001568" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000935237" "00025848" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000935238" "00001568" "90" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asp174Gly)" "" "0000935238" "00025848" "90" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asp174Gly)" "" "0000935239" "00001568" "90" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Asp174Asn)" "" "0000935239" "00025848" "90" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Asp174Asn)" "" "0000935240" "00001568" "70" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Arg177Pro)" "" "0000935240" "00025848" "70" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Arg177Pro)" "" "0000935241" "00001568" "90" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Arg179Gly)" "" "0000935241" "00025848" "90" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Arg179Gly)" "" "0000935242" "00001568" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935242" "00025848" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935243" "00001568" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935243" "00025848" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935244" "00001568" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935244" "00025848" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935245" "00001568" "90" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Ser)" "" "0000935245" "00025848" "90" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Ser)" "" "0000935246" "00001568" "70" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Gly184Arg)" "" "0000935246" "00025848" "70" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Gly184Arg)" "" "0000935247" "00001568" "90" "572" "0" "592" "0" "c.572_592del" "r.spl" "p.(Thr191_Phe197del)" "" "0000935247" "00025848" "90" "572" "0" "592" "0" "c.572_592del" "r.spl" "p.(Thr191_Phe197del)" "" "0000935248" "00001568" "70" "594" "-2" "594" "-2" "c.594-2del" "r.(?)" "p.?" "" "0000935248" "00025848" "70" "594" "-2" "594" "-2" "c.594-2del" "r.(?)" "p.?" "" "0000935249" "00001568" "90" "596" "0" "596" "0" "c.596T>C" "r.(?)" "p.(Leu199Pro)" "" "0000935249" "00025848" "90" "596" "0" "596" "0" "c.596T>C" "r.(?)" "p.(Leu199Pro)" "" "0000935250" "00001568" "90" "596" "0" "596" "0" "c.596T>C" "r.(?)" "p.(Leu199Pro)" "" "0000935250" "00025848" "90" "596" "0" "596" "0" "c.596T>C" "r.(?)" "p.(Leu199Pro)" "" "0000935251" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935251" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935252" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935252" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935253" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935253" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935254" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935254" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935255" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935255" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935256" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935256" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935257" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935257" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935258" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935258" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935259" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935259" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935260" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935260" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935261" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935261" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935262" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935262" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935263" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935263" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935264" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935264" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935265" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935265" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935266" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935266" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935267" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935267" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935268" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935268" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935269" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935269" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935270" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935270" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935271" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935271" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935272" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935272" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935273" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935273" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935274" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935274" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935275" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935275" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935276" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935276" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935277" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935277" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935278" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935278" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935279" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935279" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935280" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935280" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935281" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935281" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935282" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935282" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935283" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935283" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935284" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935284" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935285" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935285" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935286" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935286" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935287" "00001568" "90" "610" "0" "610" "0" "c.610G>C" "r.(?)" "p.(Gly204Arg)" "" "0000935287" "00025848" "90" "610" "0" "610" "0" "c.610G>C" "r.(?)" "p.(Gly204Arg)" "" "0000935288" "00001568" "90" "610" "0" "610" "0" "c.610G>C" "r.(?)" "p.(Gly204Arg)" "" "0000935288" "00025848" "90" "610" "0" "610" "0" "c.610G>C" "r.(?)" "p.(Gly204Arg)" "" "0000935289" "00001568" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Gly204Asp)" "" "0000935289" "00025848" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Gly204Asp)" "" "0000935290" "00001568" "70" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000935290" "00025848" "70" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000935291" "00001568" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000935291" "00025848" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000935292" "00001568" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000935292" "00025848" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000935293" "00001568" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000935293" "00025848" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000935294" "00001568" "90" "617" "0" "617" "0" "c.617G>T" "r.(?)" "p.(Arg206Leu)" "" "0000935294" "00025848" "90" "617" "0" "617" "0" "c.617G>T" "r.(?)" "p.(Arg206Leu)" "" "0000935295" "00001568" "90" "620" "0" "620" "0" "c.620C>T" "r.(?)" "p.(Ser207Phe)" "" "0000935295" "00025848" "90" "620" "0" "620" "0" "c.620C>T" "r.(?)" "p.(Ser207Phe)" "" "0000935296" "00001568" "90" "620" "0" "620" "0" "c.620C>A" "r.(?)" "p.(Ser207Tyr)" "" "0000935296" "00025848" "90" "620" "0" "620" "0" "c.620C>A" "r.(?)" "p.(Ser207Tyr)" "" "0000935297" "00001568" "90" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Glu208Gln)" "" "0000935297" "00025848" "90" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Glu208Gln)" "" "0000935298" "00001568" "90" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Glu208Gln)" "" "0000935298" "00025848" "90" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Glu208Gln)" "" "0000935299" "00001568" "90" "625" "0" "625" "0" "c.625C>G" "r.(?)" "p.(Arg209Gly)" "" "0000935299" "00025848" "90" "625" "0" "625" "0" "c.625C>G" "r.(?)" "p.(Arg209Gly)" "" "0000935300" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935300" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935301" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935301" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935302" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935302" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935303" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935303" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935304" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935304" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935305" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935305" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935306" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935306" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935307" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935307" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935308" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935308" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935309" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935309" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935310" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935310" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935311" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935311" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935312" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935312" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935313" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935313" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935314" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935314" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935315" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935315" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935316" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935316" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935317" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935317" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935318" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935318" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935319" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935319" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935320" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935320" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935321" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935321" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935322" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935322" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935323" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935323" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935324" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935324" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935325" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935325" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935326" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935326" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935327" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935327" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935328" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935328" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935329" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935329" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935330" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935330" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935331" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935331" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935332" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935332" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935333" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935333" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935334" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935334" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935335" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935335" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935336" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935336" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935337" "00001568" "90" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Arg209Pro)" "" "0000935337" "00025848" "90" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Arg209Pro)" "" "0000935338" "00001568" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935338" "00025848" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935339" "00001568" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935339" "00025848" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935340" "00001568" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935340" "00025848" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935341" "00001568" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935341" "00025848" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935342" "00001568" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935342" "00025848" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935343" "00001568" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935343" "00025848" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935344" "00001568" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935344" "00025848" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935345" "00001568" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935345" "00025848" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935346" "00001568" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935346" "00025848" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935347" "00001568" "90" "662" "0" "662" "0" "c.662C>A" "r.(?)" "p.(Ala221Asp)" "" "0000935347" "00025848" "90" "662" "0" "662" "0" "c.662C>A" "r.(?)" "p.(Ala221Asp)" "" "0000935348" "00001568" "90" "662" "0" "662" "0" "c.662C>A" "r.(?)" "p.(Ala221Asp)" "" "0000935348" "00025848" "90" "662" "0" "662" "0" "c.662C>A" "r.(?)" "p.(Ala221Asp)" "" "0000935349" "00001568" "70" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Cys225Tyr)" "" "0000935349" "00025848" "70" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Cys225Tyr)" "" "0000935350" "00001568" "70" "676" "0" "677" "0" "c.676_677del" "r.(?)" "p.(Val226ArgfsTer6)" "" "0000935350" "00025848" "70" "676" "0" "677" "0" "c.676_677del" "r.(?)" "p.(Val226ArgfsTer6)" "" "0000935351" "00001568" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935351" "00025848" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935352" "00001568" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935352" "00025848" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935353" "00001568" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935353" "00025848" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935354" "00001568" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935354" "00025848" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935355" "00001568" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Leu228Pro)" "" "0000935355" "00025848" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Leu228Pro)" "" "0000935356" "00001568" "90" "687" "0" "687" "0" "c.687C>A" "r.(?)" "p.(Ser229Arg)" "" "0000935356" "00025848" "90" "687" "0" "687" "0" "c.687C>A" "r.(?)" "p.(Ser229Arg)" "" "0000935357" "00001568" "90" "687" "0" "687" "0" "c.687C>G" "r.(?)" "p.(Ser229Arg)" "" "0000935357" "00025848" "90" "687" "0" "687" "0" "c.687C>G" "r.(?)" "p.(Ser229Arg)" "" "0000935358" "00001568" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935358" "00025848" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935359" "00001568" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935359" "00025848" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935360" "00001568" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935360" "00025848" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935361" "00001568" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935361" "00025848" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935362" "00001568" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935362" "00025848" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935363" "00001568" "70" "698" "0" "698" "0" "c.698A>C" "r.(?)" "p.(Gln233Pro)" "" "0000935363" "00025848" "70" "698" "0" "698" "0" "c.698A>C" "r.(?)" "p.(Gln233Pro)" "" "0000935364" "00001568" "70" "698" "0" "698" "0" "c.698A>C" "r.(?)" "p.(Gln233Pro)" "" "0000935364" "00025848" "70" "698" "0" "698" "0" "c.698A>C" "r.(?)" "p.(Gln233Pro)" "" "0000935365" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935365" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935366" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935366" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935367" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935367" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935368" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935368" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935369" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935369" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935370" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935370" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935371" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935371" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935372" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935372" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935373" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935373" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935374" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935374" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935375" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935375" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935376" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935376" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935377" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935377" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935378" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935378" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935379" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935379" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935380" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935380" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935381" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935381" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935382" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935382" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935383" "00001568" "70" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asp238Gly)" "" "0000935383" "00025848" "70" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asp238Gly)" "" "0000935384" "00001568" "90" "723" "1" "723" "1" "c.723+1G>A" "r.spl" "p.?" "" "0000935384" "00025848" "90" "723" "1" "723" "1" "c.723+1G>A" "r.spl" "p.?" "" "0000935385" "00001568" "90" "723" "1" "723" "1" "c.723+1G>A" "r.spl" "p.?" "" "0000935385" "00025848" "90" "723" "1" "723" "1" "c.723+1G>A" "r.spl" "p.?" "" "0000935386" "00001568" "70" "723" "1" "723" "1" "c.723+1G>T" "r.spl" "p.?" "" "0000935386" "00025848" "70" "723" "1" "723" "1" "c.723+1G>T" "r.spl" "p.?" "" "0000935387" "00001568" "70" "723" "1" "723" "1" "c.723+1G>T" "r.spl" "p.?" "" "0000935387" "00025848" "70" "723" "1" "723" "1" "c.723+1G>T" "r.spl" "p.?" "" "0000935388" "00001568" "70" "723" "2" "723" "2" "c.723+2T>A" "r.spl" "p.?" "" "0000935388" "00025848" "70" "723" "2" "723" "2" "c.723+2T>A" "r.spl" "p.?" "" "0000935389" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935390" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935391" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935392" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935393" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935394" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935395" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935396" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935397" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935398" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935399" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935400" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935401" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935402" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935403" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935404" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935405" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935406" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935407" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935408" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935409" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935410" "00001568" "90" "725" "0" "725" "0" "c.725A>C" "r.(?)" "p.(Asn242Thr)" "" "0000935411" "00001568" "70" "730" "0" "731" "0" "c.730_731delinsCG" "r.(?)" "p.(Met244Arg)" "" "0000935412" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935413" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935414" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935415" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935416" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935417" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935418" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935419" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935420" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935421" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935422" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935423" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935424" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935425" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935426" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935427" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935428" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935429" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935430" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935431" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935432" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935433" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935434" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935435" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935436" "00001568" "70" "736" "0" "736" "0" "c.736G>C" "r.(?)" "p.(Glu246Gln)" "" "0000935437" "00001568" "70" "735" "0" "737" "0" "c.735_737dup" "r.(?)" "p.(His245_Glu246insAsp)" "" "0000935438" "00001568" "70" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(Glu246Gly)" "" "0000935439" "00001568" "70" "737" "0" "737" "0" "c.737A>T" "r.(?)" "p.(Glu246Val)" "" "0000935440" "00001568" "70" "765" "0" "765" "0" "c.765dup" "r.(?)" "p.(Asn256Ter)" "" "0000935441" "00001568" "70" "765" "0" "765" "0" "c.765dup" "r.(?)" "p.(Asn256Ter)" "" "0000935442" "00001568" "90" "808" "0" "808" "0" "c.808A>C" "r.(?)" "p.(Asn270His)" "" "0000935443" "00001568" "90" "808" "0" "808" "0" "c.808A>G" "r.(?)" "p.(Asn270Asp)" "" "0000935444" "00001568" "70" "810" "0" "810" "0" "c.810C>A" "r.(?)" "p.(Asn270Lys)" "" "0000935445" "00001568" "70" "817" "0" "817" "0" "c.817G>T" "r.(?)" "p.(Asp273Tyr)" "" "0000935446" "00001568" "70" "818" "0" "818" "0" "c.818A>T" "r.(?)" "p.(Asp273Val)" "" "0000935447" "00001568" "70" "818" "0" "818" "0" "c.818A>T" "r.(?)" "p.(Asp273Val)" "" "0000935448" "00001568" "90" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Phe275Ser)" "" "0000935449" "00001568" "90" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Phe275Ser)" "" "0000935450" "00001568" "90" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Phe275Ser)" "" "0000935451" "00001568" "90" "833" "0" "835" "0" "c.833_835del" "r.(?)" "p.(Lys278del)" "" "0000935452" "00001568" "90" "833" "0" "835" "0" "c.833_835del" "r.(?)" "p.(Lys278del)" "" "0000935453" "00001568" "90" "833" "0" "835" "0" "c.833_835del" "r.(?)" "p.(Lys278del)" "" "0000935454" "00001568" "90" "836" "0" "836" "0" "c.836T>A" "r.(?)" "p.(Ile279Asn)" "" "0000935455" "00001568" "90" "836" "0" "836" "0" "c.836T>A" "r.(?)" "p.(Ile279Asn)" "" "0000935456" "00001568" "90" "851" "0" "851" "0" "c.851T>C" "r.(?)" "p.(Leu284Ser)" "" "0000935457" "00001568" "50" "863" "0" "863" "0" "c.863T>C" "r.(?)" "p.(Phe288Ser)" "" "0000935458" "00001568" "90" "871" "0" "871" "0" "c.871T>A" "r.(?)" "p.(Tyr291Asn)" "" "0000935459" "00001568" "90" "871" "0" "871" "0" "c.871T>A" "r.(?)" "p.(Tyr291Asn)" "" "0000935460" "00001568" "70" "872" "0" "872" "0" "c.872A>G" "r.(?)" "p.(Tyr291Cys)" "" "0000935461" "00001568" "70" "904" "0" "906" "0" "c.904_906del" "r.(?)" "p.(Ala302del)" "" "0000935462" "00001568" "70" "980" "0" "980" "0" "c.980C>A" "r.(?)" "p.(Thr327Lys)" "" "0000935463" "00001568" "50" "986" "0" "986" "0" "c.986del" "r.(?)" "p.(Thr329ArgfsTer45)" "" "0000935464" "00001568" "70" "1013" "0" "1015" "0" "c.1013_1015del" "r.(?)" "p.(Ala338del)" "" "0000935465" "00001568" "90" "1030" "0" "1032" "0" "c.1030_1032del" "r.(?)" "p.(Ile344del)" "" "0000935466" "00001568" "90" "1030" "0" "1032" "0" "c.1030_1032del" "r.(?)" "p.(Ile344del)" "" "0000935467" "00001568" "90" "1030" "0" "1032" "0" "c.1030_1032del" "r.(?)" "p.(Ile344del)" "" "0000935469" "00001568" "70" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000935469" "00025848" "70" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000935470" "00001568" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Cys3Tyr)" "" "0000935470" "00025848" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Cys3Tyr)" "" "0000935471" "00001568" "10" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Ala11Val)" "" "0000935471" "00025848" "10" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Ala11Val)" "" "0000935472" "00001568" "70" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Leu13Pro)" "" "0000935472" "00025848" "70" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Leu13Pro)" "" "0000935473" "00001568" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "0000935473" "00025848" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "0000935474" "00001568" "50" "89" "0" "89" "0" "c.89C>T" "r.(?)" "p.(Ala30Val)" "" "0000935474" "00025848" "50" "89" "0" "89" "0" "c.89C>T" "r.(?)" "p.(Ala30Val)" "" "0000935475" "00001568" "50" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Lys32Glu)" "" "0000935475" "00025848" "50" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Lys32Glu)" "" "0000935476" "00001568" "50" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Val34Met)" "" "0000935476" "00025848" "50" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Val34Met)" "" "0000935477" "00001568" "50" "100" "0" "100" "0" "c.100G>C" "r.(?)" "p.(Val34Leu)" "" "0000935477" "00025848" "50" "100" "0" "100" "0" "c.100G>C" "r.(?)" "p.(Val34Leu)" "" "0000935478" "00001568" "50" "108" "0" "108" "0" "c.108A>C" "r.(?)" "p.(Leu36Phe)" "" "0000935478" "00025848" "50" "108" "0" "108" "0" "c.108A>C" "r.(?)" "p.(Leu36Phe)" "" "0000935479" "00001568" "50" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Leu39Phe)" "" "0000935479" "00025848" "50" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Leu39Phe)" "" "0000935480" "00001568" "70" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Leu39Pro)" "" "0000935480" "00025848" "70" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Leu39Pro)" "" "0000935481" "00001568" "90" "119" "0" "119" "0" "c.119G>T" "r.(?)" "p.(Gly40Val)" "" "0000935481" "00025848" "90" "119" "0" "119" "0" "c.119G>T" "r.(?)" "p.(Gly40Val)" "" "0000935482" "00001568" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Ala41Thr)" "" "0000935482" "00025848" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Ala41Thr)" "" "0000935483" "00001568" "70" "127" "0" "127" "0" "c.127G>C" "r.(?)" "p.(Glu43Gln)" "" "0000935483" "00025848" "70" "127" "0" "127" "0" "c.127G>C" "r.(?)" "p.(Glu43Gln)" "" "0000935484" "00001568" "90" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Ser47Asn)" "" "0000935484" "00025848" "90" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Ser47Asn)" "" "0000935485" "00001568" "70" "143" "0" "143" "0" "c.143C>A" "r.(?)" "p.(Thr48Asn)" "" "0000935485" "00025848" "70" "143" "0" "143" "0" "c.143C>A" "r.(?)" "p.(Thr48Asn)" "" "0000935486" "00001568" "70" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Thr48Ile)" "" "0000935486" "00025848" "70" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Thr48Ile)" "" "0000935487" "00001568" "50" "145" "0" "145" "0" "c.145A>T" "r.(?)" "p.(Ile49Phe)" "" "0000935487" "00025848" "50" "145" "0" "145" "0" "c.145A>T" "r.(?)" "p.(Ile49Phe)" "" "0000935488" "00001568" "50" "145" "0" "145" "0" "c.145A>C" "r.(?)" "p.(Ile49Leu)" "" "0000935488" "00025848" "50" "145" "0" "145" "0" "c.145A>C" "r.(?)" "p.(Ile49Leu)" "" "0000935489" "00001568" "50" "151" "0" "151" "0" "c.151A>G" "r.(?)" "p.(Lys51Glu)" "" "0000935489" "00025848" "50" "151" "0" "151" "0" "c.151A>G" "r.(?)" "p.(Lys51Glu)" "" "0000935490" "00001568" "50" "158" "0" "158" "0" "c.158T>A" "r.(?)" "p.(Met53Lys)" "" "0000935490" "00025848" "50" "158" "0" "158" "0" "c.158T>A" "r.(?)" "p.(Met53Lys)" "" "0000935491" "00001568" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Arg)" "" "0000935491" "00025848" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Arg)" "" "0000935492" "00001568" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Met)" "" "0000935492" "00025848" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Met)" "" "0000935493" "00001568" "70" "207" "0" "207" "0" "c.207C>A" "r.(?)" "p.(Tyr69Ter)" "" "0000935493" "00025848" "70" "207" "0" "207" "0" "c.207C>A" "r.(?)" "p.(Tyr69Ter)" "" "0000935494" "00001568" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Val72Ile)" "" "0000935494" "00025848" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Val72Ile)" "" "0000935495" "00001568" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Ser75Asn)" "" "0000935495" "00025848" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Ser75Asn)" "" "0000935496" "00001568" "70" "229" "0" "229" "0" "c.229A>C" "r.(?)" "p.(Thr77Pro)" "" "0000935496" "00025848" "70" "229" "0" "229" "0" "c.229A>C" "r.(?)" "p.(Thr77Pro)" "" "0000935497" "00001568" "50" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Ile78Val)" "" "0000935497" "00025848" "50" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Ile78Val)" "" "0000935498" "00001568" "50" "232" "0" "232" "0" "c.232A>C" "r.(?)" "p.(Ile78Leu)" "" "0000935498" "00025848" "50" "232" "0" "232" "0" "c.232A>C" "r.(?)" "p.(Ile78Leu)" "" "0000935499" "00001568" "50" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Ala82Thr)" "" "0000935499" "00025848" "50" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Ala82Thr)" "" "0000935500" "00001568" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Ile)" "" "0000935500" "00025848" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Ile)" "" "0000935501" "00001568" "50" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Trp)" "" "0000935501" "00025848" "50" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Trp)" "" "0000935502" "00001568" "30" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86Gln)" "" "0000935502" "00025848" "30" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86Gln)" "" "0000935503" "00001568" "50" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Met88Val)" "" "0000935503" "00025848" "50" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Met88Val)" "" "0000935504" "00001568" "50" "263" "0" "263" "0" "c.263T>C" "r.(?)" "p.(Met88Thr)" "" "0000935504" "00025848" "50" "263" "0" "263" "0" "c.263T>C" "r.(?)" "p.(Met88Thr)" "" "0000935505" "00001568" "50" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Met88Arg)" "" "0000935505" "00025848" "50" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Met88Arg)" "" "0000935506" "00001568" "50" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Asp89Glu)" "" "0000935506" "00025848" "50" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Asp89Glu)" "" "0000935507" "00001568" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Gly92Ser)" "" "0000935507" "00025848" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Gly92Ser)" "" "0000935508" "00001568" "50" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Gly92Asp)" "" "0000935508" "00025848" "50" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Gly92Asp)" "" "0000935509" "00001568" "50" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ile93Val)" "" "0000935509" "00025848" "50" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ile93Val)" "" "0000935510" "00001568" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Glu94Lys)" "" "0000935510" "00025848" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Glu94Lys)" "" "0000935511" "00001568" "50" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Tyr95Cys)" "" "0000935511" "00025848" "50" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Tyr95Cys)" "" "0000935512" "00001568" "30" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Gly96Ser)" "" "0000935512" "00025848" "30" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Gly96Ser)" "" "0000935513" "00001568" "50" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Gly96Asp)" "" "0000935513" "00025848" "50" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Gly96Asp)" "" "0000935514" "00001568" "50" "287" "0" "287" "0" "c.287G>C" "r.(?)" "p.(Gly96Ala)" "" "0000935514" "00025848" "50" "287" "0" "287" "0" "c.287G>C" "r.(?)" "p.(Gly96Ala)" "" "0000935515" "00001568" "50" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Asp97Gly)" "" "0000935515" "00025848" "50" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Asp97Gly)" "" "0000935516" "00001568" "50" "290" "0" "290" "0" "c.290A>T" "r.(?)" "p.(Asp97Val)" "" "0000935516" "00025848" "50" "290" "0" "290" "0" "c.290A>T" "r.(?)" "p.(Asp97Val)" "" "0000935517" "00001568" "30" "309" "0" "309" "0" "c.309C>A" "r.(?)" "p.(Asp103Glu)" "" "0000935517" "00025848" "30" "309" "0" "309" "0" "c.309C>A" "r.(?)" "p.(Asp103Glu)" "" "0000935518" "00001568" "50" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Ala104Thr)" "" "0000935518" "00025848" "50" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Ala104Thr)" "" "0000935519" "00001568" "50" "318" "0" "318" "0" "c.318G>C" "r.(?)" "p.(Met106Ile)" "" "0000935519" "00025848" "50" "318" "0" "318" "0" "c.318G>C" "r.(?)" "p.(Met106Ile)" "" "0000935520" "00001568" "50" "319" "0" "319" "0" "c.319G>C" "r.(?)" "p.(Val107Leu)" "" "0000935520" "00025848" "50" "319" "0" "319" "0" "c.319G>C" "r.(?)" "p.(Val107Leu)" "" "0000935521" "00001568" "50" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Cys108Tyr)" "" "0000935521" "00025848" "50" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Cys108Tyr)" "" "0000935522" "00001568" "50" "326" "0" "326" "0" "c.326A>T" "r.(?)" "p.(Asp109Val)" "" "0000935522" "00025848" "50" "326" "0" "326" "0" "c.326A>T" "r.(?)" "p.(Asp109Val)" "" "0000935523" "00001568" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Ser112Gly)" "" "0000935523" "00025848" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Ser112Gly)" "" "0000935524" "00001568" "50" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113Gln)" "" "0000935524" "00025848" "50" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113Gln)" "" "0000935525" "00001568" "10" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Glu115Lys)" "" "0000935525" "00025848" "10" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Glu115Lys)" "" "0000935526" "00001568" "30" "354" "0" "354" "0" "c.354G>C" "r.(?)" "p.(Glu118Asp)" "" "0000935526" "00025848" "30" "354" "0" "354" "0" "c.354G>C" "r.(?)" "p.(Glu118Asp)" "" "0000935527" "00001568" "30" "354" "0" "354" "0" "c.354G>T" "r.(?)" "p.(Glu118Asp)" "" "0000935527" "00025848" "30" "354" "0" "354" "0" "c.354G>T" "r.(?)" "p.(Glu118Asp)" "" "0000935528" "00001568" "50" "358" "0" "358" "0" "c.358T>G" "r.(?)" "p.(Phe120Val)" "" "0000935528" "00025848" "50" "358" "0" "358" "0" "c.358T>G" "r.(?)" "p.(Phe120Val)" "" "0000935529" "00001568" "50" "369" "0" "369" "0" "c.369G>T" "r.(?)" "p.(Glu123Asp)" "" "0000935529" "00025848" "50" "369" "0" "369" "0" "c.369G>T" "r.(?)" "p.(Glu123Asp)" "" "0000935530" "00001568" "50" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Ser126Cys)" "" "0000935530" "00025848" "50" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Ser126Cys)" "" "0000935531" "00001568" "50" "379" "0" "379" "0" "c.379G>T" "r.(?)" "p.(Ala127Ser)" "" "0000935531" "00025848" "50" "379" "0" "379" "0" "c.379G>T" "r.(?)" "p.(Ala127Ser)" "" "0000935532" "00001568" "50" "380" "0" "380" "0" "c.380C>A" "r.(?)" "p.(Ala127Asp)" "" "0000935532" "00025848" "50" "380" "0" "380" "0" "c.380C>A" "r.(?)" "p.(Ala127Asp)" "" "0000935533" "00001568" "50" "384" "0" "384" "0" "c.384G>T" "r.(?)" "p.(Met128Ile)" "" "0000935533" "00025848" "50" "384" "0" "384" "0" "c.384G>T" "r.(?)" "p.(Met128Ile)" "" "0000935534" "00001568" "30" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Met129Thr)" "" "0000935534" "00025848" "30" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Met129Thr)" "" "0000935535" "00001568" "50" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Met129Ile)" "" "0000935535" "00025848" "50" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Met129Ile)" "" "0000935536" "00001568" "50" "388" "0" "388" "0" "c.388C>G" "r.(?)" "p.(Arg130Gly)" "" "0000935536" "00025848" "50" "388" "0" "388" "0" "c.388C>G" "r.(?)" "p.(Arg130Gly)" "" "0000935537" "00001568" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Trp)" "" "0000935537" "00025848" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Trp)" "" "0000935538" "00001568" "30" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "" "0000935538" "00025848" "30" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "" "0000935539" "00001568" "70" "396" "0" "396" "0" "c.396G>T" "r.(?)" "p.(Trp132Cys)" "" "0000935539" "00025848" "70" "396" "0" "396" "0" "c.396G>T" "r.(?)" "p.(Trp132Cys)" "" "0000935540" "00001568" "50" "397" "0" "397" "0" "c.397G>C" "r.(?)" "p.(Gly133Arg)" "" "0000935540" "00025848" "50" "397" "0" "397" "0" "c.397G>C" "r.(?)" "p.(Gly133Arg)" "" "0000935541" "00001568" "10" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Gly133Ser)" "" "0000935541" "00025848" "10" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Gly133Ser)" "" "0000935542" "00001568" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Asp134Asn)" "" "0000935542" "00025848" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Asp134Asn)" "" "0000935543" "00001568" "50" "403" "0" "403" "0" "c.403T>C" "r.(?)" "p.(Ser135Pro)" "" "0000935543" "00025848" "50" "403" "0" "403" "0" "c.403T>C" "r.(?)" "p.(Ser135Pro)" "" "0000935544" "00001568" "50" "412" "0" "412" "0" "c.412C>G" "r.(?)" "p.(Gln138Glu)" "" "0000935544" "00025848" "50" "412" "0" "412" "0" "c.412C>G" "r.(?)" "p.(Gln138Glu)" "" "0000935545" "00001568" "50" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Gln138Arg)" "" "0000935545" "00025848" "50" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Gln138Arg)" "" "0000935546" "00001568" "50" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Glu139Lys)" "" "0000935546" "00025848" "50" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Glu139Lys)" "" "0000935547" "00001568" "50" "424" "0" "424" "0" "c.424A>C" "r.(?)" "p.(Asn142His)" "" "0000935547" "00025848" "50" "424" "0" "424" "0" "c.424A>C" "r.(?)" "p.(Asn142His)" "" "0000935548" "00001568" "10" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Asn142Ser)" "" "0000935548" "00025848" "10" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Asn142Ser)" "" "0000935549" "00001568" "30" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "" "0000935549" "00025848" "30" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "" "0000935550" "00001568" "50" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143Gln)" "" "0000935550" "00025848" "50" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143Gln)" "" "0000935551" "00001568" "50" "428" "0" "428" "0" "c.428G>T" "r.(?)" "p.(Arg143Leu)" "" "0000935551" "00025848" "50" "428" "0" "428" "0" "c.428G>T" "r.(?)" "p.(Arg143Leu)" "" "0000935552" "00001568" "50" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0000935552" "00025848" "50" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0000935553" "00001568" "50" "448" "0" "448" "0" "c.448A>C" "r.(?)" "p.(Asn150His)" "" "0000935553" "00025848" "50" "448" "0" "448" "0" "c.448A>C" "r.(?)" "p.(Asn150His)" "" "0000935554" "00001568" "50" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asn150Ser)" "" "0000935554" "00025848" "50" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asn150Ser)" "" "0000935555" "00001568" "70" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Asp151Asn)" "" "0000935555" "00025848" "70" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Asp151Asn)" "" "0000935556" "00001568" "50" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Ala153Thr)" "" "0000935556" "00025848" "50" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Ala153Thr)" "" "0000935557" "00001568" "50" "460" "0" "460" "0" "c.460A>C" "r.(?)" "p.(Lys154Gln)" "" "0000935557" "00025848" "50" "460" "0" "460" "0" "c.460A>C" "r.(?)" "p.(Lys154Gln)" "" "0000935558" "00001568" "50" "464" "2" "464" "2" "c.464+2T>C" "r.spl?" "p.?" "" "0000935558" "00025848" "50" "464" "2" "464" "2" "c.464+2T>C" "r.spl?" "p.?" "" "0000935559" "00001568" "50" "464" "5" "464" "5" "c.464+5G>A" "r.spl?" "p.?" "" "0000935559" "00025848" "50" "464" "5" "464" "5" "c.464+5G>A" "r.spl?" "p.?" "" "0000935560" "00001568" "50" "465" "-3" "465" "-3" "c.465-3C>T" "r.spl?" "p.?" "" "0000935560" "00025848" "50" "465" "-3" "465" "-3" "c.465-3C>T" "r.spl?" "p.?" "" "0000935561" "00001568" "30" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asp158Gly)" "" "0000935561" "00025848" "30" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asp158Gly)" "" "0000935562" "00001568" "50" "478" "0" "478" "0" "c.478C>G" "r.(?)" "p.(Leu160Val)" "" "0000935562" "00025848" "50" "478" "0" "478" "0" "c.478C>G" "r.(?)" "p.(Leu160Val)" "" "0000935563" "00001568" "50" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Leu160Pro)" "" "0000935563" "00025848" "50" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Leu160Pro)" "" "0000935564" "00001568" "50" "483" "0" "483" "0" "c.483T>A" "r.(?)" "p.(Asp161Glu)" "" "0000935564" "00025848" "50" "483" "0" "483" "0" "c.483T>A" "r.(?)" "p.(Asp161Glu)" "" "0000935565" "00001568" "50" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Ile163Thr)" "" "0000935565" "00025848" "50" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Ile163Thr)" "" "0000935566" "00001568" "50" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Gly164Trp)" "" "0000935566" "00025848" "50" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Gly164Trp)" "" "0000935567" "00001568" "50" "491" "0" "491" "0" "c.491G>T" "r.(?)" "p.(Gly164Val)" "" "0000935567" "00025848" "50" "491" "0" "491" "0" "c.491G>T" "r.(?)" "p.(Gly164Val)" "" "0000935568" "00001568" "50" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Ala165Pro)" "" "0000935568" "00025848" "50" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Ala165Pro)" "" "0000935569" "00001568" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ala165Val)" "" "0000935569" "00025848" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ala165Val)" "" "0000935570" "00001568" "10" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Ala166Thr)" "" "0000935570" "00025848" "10" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Ala166Thr)" "" "0000935571" "00001568" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Asp167Asn)" "" "0000935571" "00025848" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Asp167Asn)" "" "0000935572" "00001568" "50" "499" "0" "499" "0" "c.499G>C" "r.(?)" "p.(Asp167His)" "" "0000935572" "00025848" "50" "499" "0" "499" "0" "c.499G>C" "r.(?)" "p.(Asp167His)" "" "0000935573" "00001568" "50" "507" "0" "507" "0" "c.507G>C" "r.(?)" "p.(Gln169His)" "" "0000935573" "00025848" "50" "507" "0" "507" "0" "c.507G>C" "r.(?)" "p.(Gln169His)" "" "0000935574" "00001568" "70" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Pro170Arg)" "" "0000935574" "00025848" "70" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Pro170Arg)" "" "0000935575" "00001568" "50" "512" "0" "512" "0" "c.512C>A" "r.(?)" "p.(Thr171Asn)" "" "0000935575" "00025848" "50" "512" "0" "512" "0" "c.512C>A" "r.(?)" "p.(Thr171Asn)" "" "0000935576" "00001568" "70" "527" "0" "528" "0" "c.527_528delinsAA" "r.(?)" "p.(Leu176Gln)" "" "0000935576" "00025848" "70" "527" "0" "528" "0" "c.527_528delinsAA" "r.(?)" "p.(Leu176Gln)" "" "0000935577" "00001568" "50" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Ter)" "" "0000935577" "00025848" "50" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Ter)" "" "0000935578" "00001568" "70" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Lys)" "" "0000935578" "00025848" "70" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Lys)" "" "0000935579" "00001568" "70" "536" "0" "536" "0" "c.536G>C" "r.(?)" "p.(Arg179Thr)" "" "0000935579" "00025848" "70" "536" "0" "536" "0" "c.536G>C" "r.(?)" "p.(Arg179Thr)" "" "0000935580" "00001568" "50" "553" "0" "553" "0" "c.553A>G" "r.(?)" "p.(Ile185Val)" "" "0000935580" "00025848" "50" "553" "0" "553" "0" "c.553A>G" "r.(?)" "p.(Ile185Val)" "" "0000935581" "00001568" "50" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Ile)" "" "0000935581" "00025848" "50" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Ile)" "" "0000935582" "00001568" "50" "581" "0" "581" "0" "c.581A>C" "r.(?)" "p.(Asn194Thr)" "" "0000935582" "00025848" "50" "581" "0" "581" "0" "c.581A>C" "r.(?)" "p.(Asn194Thr)" "" "0000935583" "00001568" "50" "590" "0" "590" "0" "c.590T>G" "r.(?)" "p.(Phe197Cys)" "" "0000935583" "00025848" "50" "590" "0" "590" "0" "c.590T>G" "r.(?)" "p.(Phe197Cys)" "" "0000935584" "00001568" "50" "595" "0" "595" "0" "c.595C>G" "r.(?)" "p.(Leu199Val)" "" "0000935584" "00025848" "50" "595" "0" "595" "0" "c.595C>G" "r.(?)" "p.(Leu199Val)" "" "0000935585" "00001568" "90" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Asp201His)" "" "0000935585" "00025848" "90" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Asp201His)" "" "0000935586" "00001568" "90" "602" "0" "602" "0" "c.602A>T" "r.(?)" "p.(Asp201Val)" "" "0000935586" "00025848" "90" "602" "0" "602" "0" "c.602A>T" "r.(?)" "p.(Asp201Val)" "" "0000935587" "00001568" "70" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Val202Leu)" "" "0000935587" "00025848" "70" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Val202Leu)" "" "0000935588" "00001568" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Val202Ile)" "" "0000935588" "00025848" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Val202Ile)" "" "0000935589" "00001568" "90" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Gly203Arg)" "" "0000935589" "00025848" "90" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Gly203Arg)" "" "0000935590" "00001568" "90" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Gly203Glu)" "" "0000935590" "00025848" "90" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Gly203Glu)" "" "0000935591" "00001568" "70" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Gly204Asp)" "" "0000935591" "00025848" "70" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Gly204Asp)" "" "0000935592" "00001568" "70" "614" "0" "614" "0" "c.614A>C" "r.(?)" "p.(Gln205Pro)" "" "0000935592" "00025848" "70" "614" "0" "614" "0" "c.614A>C" "r.(?)" "p.(Gln205Pro)" "" "0000935593" "00001568" "90" "617" "0" "617" "0" "c.617G>T" "r.(?)" "p.(Arg206Leu)" "" "0000935593" "00025848" "90" "617" "0" "617" "0" "c.617G>T" "r.(?)" "p.(Arg206Leu)" "" "0000935594" "00001568" "70" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Glu217Lys)" "" "0000935594" "00025848" "70" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Glu217Lys)" "" "0000935595" "00001568" "50" "651" "0" "651" "0" "c.651G>C" "r.(?)" "p.(Glu217Asp)" "" "0000935595" "00025848" "50" "651" "0" "651" "0" "c.651G>C" "r.(?)" "p.(Glu217Asp)" "" "0000935596" "00001568" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Val219Ile)" "" "0000935596" "00025848" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Val219Ile)" "" "0000935597" "00001568" "70" "656" "0" "656" "0" "c.656T>C" "r.(?)" "p.(Val219Ala)" "" "0000935597" "00025848" "70" "656" "0" "656" "0" "c.656T>C" "r.(?)" "p.(Val219Ala)" "" "0000935598" "00001568" "90" "687" "0" "687" "0" "c.687C>G" "r.(?)" "p.(Ser229Arg)" "" "0000935598" "00025848" "90" "687" "0" "687" "0" "c.687C>G" "r.(?)" "p.(Ser229Arg)" "" "0000935599" "00001568" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Gly230Ser)" "" "0000935599" "00025848" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Gly230Ser)" "" "0000935600" "00001568" "50" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Gly230Asp)" "" "0000935600" "00025848" "50" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Gly230Asp)" "" "0000935601" "00001568" "50" "718" "0" "718" "0" "c.718A>G" "r.(?)" "p.(Thr240Ala)" "" "0000935601" "00025848" "50" "718" "0" "718" "0" "c.718A>G" "r.(?)" "p.(Thr240Ala)" "" "0000935602" "00001568" "50" "719" "0" "719" "0" "c.719C>G" "r.(?)" "p.(Thr240Ser)" "" "0000935602" "00025848" "50" "719" "0" "719" "0" "c.719C>G" "r.(?)" "p.(Thr240Ser)" "" "0000935603" "00001568" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Thr241Met)" "" "0000935603" "00025848" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Thr241Met)" "" "0000935604" "00001568" "70" "731" "0" "731" "0" "c.731T>A" "r.(?)" "p.(Met244Lys)" "" "0000935605" "00001568" "50" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(His245Arg)" "" "0000935606" "00001568" "50" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Met249Thr)" "" "0000935607" "00001568" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Leu250Phe)" "" "0000935608" "00001568" "50" "753" "0" "753" "0" "c.753C>G" "r.(?)" "p.(Phe251Leu)" "" "0000935609" "00001568" "30" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" "" "0000935610" "00001568" "50" "759" "0" "759" "0" "c.759dup" "r.(?)" "p.(Ile254HisfsTer3)" "" "0000935611" "00001568" "50" "790" "0" "790" "0" "c.790T>C" "r.(?)" "p.(Ser264Pro)" "" "0000935612" "00001568" "30" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Ile265Val)" "" "0000935613" "00001568" "70" "809" "0" "809" "0" "c.809A>C" "r.(?)" "p.(Asn270Thr)" "" "0000935614" "00001568" "50" "811" "0" "811" "0" "c.811A>G" "r.(?)" "p.(Lys271Glu)" "" "0000935615" "00001568" "70" "813" "0" "813" "0" "c.813G>C" "r.(?)" "p.(Lys271Asn)" "" "0000935616" "00001568" "90" "833" "0" "835" "0" "c.833_835del" "r.(?)" "p.(Lys278del)" "" "0000935617" "00001568" "70" "844" "0" "844" "0" "c.844T>C" "r.(?)" "p.(Ser282Pro)" "" "0000935618" "00001568" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Pro283Ser)" "" "0000935619" "00001568" "50" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Ile286Val)" "" "0000935620" "00001568" "50" "856" "0" "856" "0" "c.856A>T" "r.(?)" "p.(Ile286Phe)" "" "0000935621" "00001568" "50" "865" "0" "865" "0" "c.865C>G" "r.(?)" "p.(Pro289Ala)" "" "0000935622" "00001568" "50" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Thr292Ile)" "" "0000935623" "00001568" "30" "877" "2" "877" "2" "c.877+2T>A" "r.spl" "p.?" "" "0000935624" "00001568" "50" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Pro294Ser)" "" "0000935625" "00001568" "50" "884" "0" "884" "0" "c.884A>G" "r.(?)" "p.(Asn295Ser)" "" "0000935626" "00001568" "50" "886" "0" "886" "0" "c.886A>C" "r.(?)" "p.(Thr296Pro)" "" "0000935627" "00001568" "50" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Thr296Ile)" "" "0000935628" "00001568" "30" "894" "0" "894" "0" "c.894A>T" "r.(?)" "p.(Glu298Asp)" "" "0000935629" "00001568" "70" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Ala300Thr)" "" "0000935630" "00001568" "30" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Ala302Thr)" "" "0000935631" "00001568" "50" "917" "0" "917" "0" "c.917C>A" "r.(?)" "p.(Ala306Glu)" "" "0000935632" "00001568" "70" "924" "0" "924" "0" "c.924T>G" "r.(?)" "p.(Phe308Leu)" "" "0000935633" "00001568" "50" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Ser310Asn)" "" "0000935634" "00001568" "70" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "" "0000935635" "00001568" "50" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313His)" "" "0000935636" "00001568" "50" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Asn316Ser)" "" "0000935637" "00001568" "50" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Met323Val)" "" "0000935638" "00001568" "70" "973" "0" "973" "0" "c.973T>G" "r.(?)" "p.(Cys325Gly)" "" "0000935639" "00001568" "70" "979" "0" "979" "0" "c.979A>C" "r.(?)" "p.(Thr327Pro)" "" "0000935640" "00001568" "70" "980" "0" "980" "0" "c.980C>G" "r.(?)" "p.(Thr327Arg)" "" "0000935641" "00001568" "70" "983" "0" "983" "0" "c.983A>G" "r.(?)" "p.(Asp328Gly)" "" "0000935642" "00001568" "50" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Val334Met)" "" "0000935643" "00001568" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Val339Ile)" "" "0000935644" "00001568" "50" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Ile344Thr)" "" "0000935645" "00001568" "50" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Gly350Asp)" "" "0000935646" "00001568" "50" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Gly352Ser)" "" "0000935649" "00001568" "50" "723" "3975" "723" "3975" "c.723+3975A>T" "r.(?)" "p.(=)" "" "0000935649" "00025848" "50" "725" "0" "725" "0" "c.725A>T" "r.(?)" "p.(Asn242Ile)" "" "0000935650" "00001568" "50" "723" "3977" "723" "3977" "c.723+3977C>G" "r.(?)" "p.(=)" "" "0000935650" "00025848" "50" "727" "0" "727" "0" "c.727C>G" "r.(?)" "p.(Arg243Gly)" "" "0000935651" "00001568" "50" "723" "3977" "723" "3977" "c.723+3977C>T" "r.(?)" "p.(=)" "" "0000935651" "00025848" "50" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Cys)" "" "0000935652" "00001568" "50" "723" "3978" "723" "3978" "c.723+3978G>A" "r.(?)" "p.(=)" "" "0000935652" "00025848" "50" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243His)" "" "0000935653" "00001568" "50" "723" "3980" "723" "3980" "c.723+3980A>C" "r.(?)" "p.(=)" "" "0000935653" "00025848" "50" "730" "0" "730" "0" "c.730A>C" "r.(?)" "p.(Met244Leu)" "" "0000935654" "00001568" "50" "723" "3980" "723" "3980" "c.723+3980A>T" "r.(?)" "p.(=)" "" "0000935654" "00025848" "50" "730" "0" "730" "0" "c.730A>T" "r.(?)" "p.(Met244Leu)" "" "0000935655" "00001568" "50" "723" "3983" "723" "3983" "c.723+3983C>A" "r.(?)" "p.(=)" "" "0000935655" "00025848" "50" "733" "0" "733" "0" "c.733C>A" "r.(?)" "p.(His245Asn)" "" "0000935656" "00001568" "50" "723" "3985" "723" "3985" "c.723+3985C>G" "r.(?)" "p.(=)" "" "0000935656" "00025848" "50" "735" "0" "735" "0" "c.735C>G" "r.(?)" "p.(His245Gln)" "" "0000935657" "00001568" "50" "723" "3986" "723" "3986" "c.723+3986G>A" "r.(?)" "p.(=)" "" "0000935657" "00025848" "50" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935658" "00001568" "50" "723" "3989" "723" "3989" "c.723+3989T>G" "r.(?)" "p.(=)" "" "0000935658" "00025848" "50" "739" "0" "739" "0" "c.739T>G" "r.(?)" "p.(Ser247Ala)" "" "0000935659" "00001568" "50" "723" "3998" "723" "3998" "c.723+3998C>T" "r.(?)" "p.(=)" "" "0000935659" "00025848" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Leu250Phe)" "" "0000935660" "00001568" "50" "723" "4003" "723" "4003" "c.723+4003T>G" "r.(?)" "p.(=)" "" "0000935660" "00025848" "50" "753" "0" "753" "0" "c.753T>G" "r.(?)" "p.(Phe251Leu)" "" "0000935661" "00001568" "50" "723" "4004" "723" "4004" "c.723+4004G>A" "r.(?)" "p.(=)" "" "0000935661" "00025848" "50" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" "" "0000935662" "00001568" "50" "723" "4008" "723" "4008" "c.723+4008G>T" "r.(?)" "p.(=)" "" "0000935662" "00025848" "50" "758" "0" "758" "0" "c.758G>T" "r.(?)" "p.(Ser253Ile)" "" "0000935663" "00001568" "50" "723" "4016" "723" "4016" "c.723+4016A>C" "r.(?)" "p.(=)" "" "0000935663" "00025848" "50" "766" "0" "766" "0" "c.766A>C" "r.(?)" "p.(Asn256His)" "" "0000935664" "00001568" "50" "723" "4017" "723" "4017" "c.723+4017A>G" "r.(?)" "p.(=)" "" "0000935664" "00025848" "50" "767" "0" "767" "0" "c.767A>G" "r.(?)" "p.(Asn256Ser)" "" "0000935665" "00001568" "10" "723" "4020" "723" "4020" "c.723+4020A>G" "r.(?)" "p.(=)" "" "0000935665" "00025848" "10" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(Asn257Ser)" "" "0000935666" "00001568" "50" "723" "4038" "723" "4038" "c.723+4038C>A" "r.(?)" "p.(=)" "" "0000935666" "00025848" "50" "788" "0" "788" "0" "c.788C>A" "r.(?)" "p.(Thr263Lys)" "" "0000935667" "00001568" "50" "723" "4038" "723" "4038" "c.723+4038C>T" "r.(?)" "p.(=)" "" "0000935667" "00025848" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "" "0000935668" "00001568" "50" "723" "4040" "723" "4040" "c.723+4040T>C" "r.(?)" "p.(=)" "" "0000935668" "00025848" "50" "790" "0" "790" "0" "c.790T>C" "r.(?)" "p.(Ser264Pro)" "" "0000935669" "00001568" "50" "723" "4043" "723" "4043" "c.723+4043A>G" "r.(?)" "p.(=)" "" "0000935669" "00025848" "50" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Ile265Val)" "" "0000935670" "00001568" "50" "723" "4046" "723" "4046" "c.723+4046A>G" "r.(?)" "p.(=)" "" "0000935670" "00025848" "50" "796" "0" "796" "0" "c.796A>G" "r.(?)" "p.(Ile266Val)" "" "0000935671" "00001568" "50" "723" "4055" "723" "4056" "c.723+4055_723+4056del" "r.(?)" "p.(=)" "" "0000935671" "00025848" "50" "805" "0" "806" "0" "c.805_806del" "r.(?)" "p.(Leu269Ter)" "" "0000935672" "00001568" "50" "723" "4064" "723" "4066" "c.723+4064_723+4066del" "r.(?)" "p.(=)" "" "0000935672" "00025848" "50" "814" "0" "816" "0" "c.814_816del" "r.(?)" "p.(Lys272del)" "" "0000935673" "00001568" "50" "723" "4062" "723" "4062" "c.723+4062A>G" "r.(?)" "p.(=)" "" "0000935673" "00025848" "50" "812" "0" "812" "0" "c.812A>G" "r.(?)" "p.(Lys271Arg)" "" "0000935674" "00001568" "50" "723" "4065" "723" "4065" "c.723+4065A>C" "r.(?)" "p.(=)" "" "0000935674" "00025848" "50" "815" "0" "815" "0" "c.815A>C" "r.(?)" "p.(Lys272Thr)" "" "0000935675" "00001568" "50" "723" "4068" "723" "4068" "c.723+4068A>G" "r.(?)" "p.(=)" "" "0000935675" "00025848" "50" "818" "0" "818" "0" "c.818A>G" "r.(?)" "p.(Asp273Gly)" "" "0000935676" "00001568" "50" "723" "4068" "723" "4068" "c.723+4068A>T" "r.(?)" "p.(=)" "" "0000935676" "00025848" "50" "818" "0" "818" "0" "c.818A>T" "r.(?)" "p.(Asp273Val)" "" "0000935677" "00001568" "50" "723" "4069" "723" "4069" "c.723+4069C>G" "r.(?)" "p.(=)" "" "0000935677" "00025848" "50" "819" "0" "819" "0" "c.819C>G" "r.(?)" "p.(Asp273Glu)" "" "0000935678" "00001568" "50" "723" "4070" "723" "4070" "c.723+4070A>G" "r.(?)" "p.(=)" "" "0000935678" "00025848" "50" "820" "0" "820" "0" "c.820A>G" "r.(?)" "p.(Ile274Val)" "" "0000935679" "00001568" "50" "723" "4071" "723" "4071" "c.723+4071T>C" "r.(?)" "p.(=)" "" "0000935679" "00025848" "50" "821" "0" "821" "0" "c.821T>C" "r.(?)" "p.(Ile274Thr)" "" "0000935680" "00001568" "50" "723" "4079" "723" "4079" "c.723+4079G>A" "r.(?)" "p.(=)" "" "0000935680" "00025848" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Glu277Lys)" "" "0000935681" "00001568" "50" "723" "4082" "723" "4082" "c.723+4082A>C" "r.(?)" "p.(=)" "" "0000935681" "00025848" "50" "832" "0" "832" "0" "c.832A>C" "r.(?)" "p.(Lys278Gln)" "" "0000935682" "00001568" "50" "723" "4083" "723" "4083" "c.723+4083A>G" "r.(?)" "p.(=)" "" "0000935682" "00025848" "50" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Lys278Arg)" "" "0000935683" "00001568" "50" "723" "4084" "723" "4084" "c.723+4084G>C" "r.(?)" "p.(=)" "" "0000935683" "00025848" "50" "834" "0" "834" "0" "c.834G>C" "r.(?)" "p.(Lys278Asn)" "" "0000935684" "00001568" "50" "723" "4086" "723" "4086" "c.723+4086T>C" "r.(?)" "p.(=)" "" "0000935684" "00025848" "50" "836" "0" "836" "0" "c.836T>C" "r.(?)" "p.(Ile279Thr)" "" "0000935685" "00001568" "50" "723" "4087" "723" "4087" "c.723+4087C>G" "r.(?)" "p.(=)" "" "0000935685" "00025848" "50" "837" "0" "837" "0" "c.837C>G" "r.(?)" "p.(Ile279Met)" "" "0000935686" "00001568" "50" "723" "4098" "723" "4098" "c.723+4098C>T" "r.(?)" "p.(=)" "" "0000935686" "00025848" "50" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Pro283Leu)" "" "0000935687" "00001568" "50" "723" "4100" "723" "4100" "c.723+4100C>G" "r.(?)" "p.(=)" "" "0000935687" "00025848" "50" "850" "0" "850" "0" "c.850C>G" "r.(?)" "p.(Leu284Val)" "" "0000935688" "00001568" "50" "723" "4100" "723" "4100" "c.723+4100C>T" "r.(?)" "p.(=)" "" "0000935688" "00025848" "50" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(Leu284Phe)" "" "0000935689" "00001568" "50" "723" "4103" "723" "4103" "c.723+4103A>T" "r.(?)" "p.(=)" "" "0000935689" "00025848" "50" "853" "0" "853" "0" "c.853A>T" "r.(?)" "p.(Thr285Ser)" "" "0000935690" "00001568" "50" "723" "4104" "723" "4104" "c.723+4104C>T" "r.(?)" "p.(=)" "" "0000935690" "00025848" "50" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Thr285Ile)" "" "0000935691" "00001568" "50" "723" "4106" "723" "4106" "c.723+4106A>G" "r.(?)" "p.(=)" "" "0000935691" "00025848" "50" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Ile286Val)" "" "0000935692" "00001568" "50" "723" "4110" "723" "4110" "c.723+4110G>C" "r.(?)" "p.(=)" "" "0000935692" "00025848" "50" "860" "0" "860" "0" "c.860G>C" "r.(?)" "p.(Cys287Ser)" "" "0000935693" "00001568" "50" "723" "4113" "723" "4113" "c.723+4113T>A" "r.(?)" "p.(=)" "" "0000935693" "00025848" "50" "863" "0" "863" "0" "c.863T>A" "r.(?)" "p.(Phe288Tyr)" "" "0000935694" "00001568" "50" "723" "4115" "723" "4115" "c.723+4115C>T" "r.(?)" "p.(=)" "" "0000935694" "00025848" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "" "0000935695" "00001568" "50" "723" "4120" "723" "4120" "c.723+4120A>C" "r.(?)" "p.(=)" "" "0000935695" "00025848" "50" "870" "0" "870" "0" "c.870A>C" "r.(?)" "p.(Glu290Asp)" "" "0000935696" "00001568" "50" "723" "4121" "723" "4121" "c.723+4121T>C" "r.(?)" "p.(=)" "" "0000935696" "00025848" "50" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Tyr291His)" "" "0000935697" "00001568" "50" "723" "4122" "723" "4122" "c.723+4122A>G" "r.(?)" "p.(=)" "" "0000935697" "00025848" "50" "872" "0" "872" "0" "c.872A>G" "r.(?)" "p.(Tyr291Cys)" "" "0000935698" "00001568" "50" "723" "4124" "723" "4124" "c.723+4124A>G" "r.(?)" "p.(=)" "" "0000935698" "00025848" "50" "874" "0" "874" "0" "c.874A>G" "r.(?)" "p.(Thr292Ala)" "" "0000935699" "00001568" "50" "723" "4125" "723" "4125" "c.723+4125C>T" "r.(?)" "p.(=)" "" "0000935699" "00025848" "50" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Thr292Ile)" "" "0000935700" "00001568" "50" "723" "4132" "723" "4132" "c.723+4132A>G" "r.spl?" "p.?" "" "0000935700" "00025848" "50" "877" "5" "877" "5" "c.877+5A>G" "r.spl?" "p.?" "" "0000935701" "00001568" "50" "723" "6903" "723" "6903" "c.723+6903G>A" "r.(?)" "p.(=)" "" "0000935701" "00025848" "50" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Gly293Asp)" "" "0000935702" "00001568" "50" "723" "6903" "723" "6903" "c.723+6903G>T" "r.(?)" "p.(=)" "" "0000935702" "00025848" "50" "878" "0" "878" "0" "c.878G>T" "r.(?)" "p.(Gly293Val)" "" "0000935703" "00001568" "50" "723" "6905" "723" "6905" "c.723+6905C>G" "r.(?)" "p.(=)" "" "0000935703" "00025848" "50" "880" "0" "880" "0" "c.880C>G" "r.(?)" "p.(Pro294Ala)" "" "0000935704" "00001568" "50" "723" "6905" "723" "6905" "c.723+6905C>T" "r.(?)" "p.(=)" "" "0000935704" "00025848" "50" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Pro294Ser)" "" "0000935705" "00001568" "50" "723" "6911" "723" "6911" "c.723+6911G>A" "r.(?)" "p.(=)" "" "0000935705" "00025848" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Ala296Thr)" "" "0000935706" "00001568" "50" "723" "6912" "723" "6912" "c.723+6912C>A" "r.(?)" "p.(=)" "" "0000935706" "00025848" "50" "887" "0" "887" "0" "c.887C>A" "r.(?)" "p.(Ala296Asp)" "" "0000935707" "00001568" "50" "723" "6914" "723" "6914" "c.723+6914T>C" "r.(?)" "p.(=)" "" "0000935707" "00025848" "50" "889" "0" "889" "0" "c.889T>C" "r.(?)" "p.(Phe297Leu)" "" "0000935708" "00001568" "50" "723" "6915" "723" "6915" "c.723+6915T>C" "r.(?)" "p.(=)" "" "0000935708" "00025848" "50" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Phe297Ser)" "" "0000935709" "00001568" "50" "723" "6917" "723" "6917" "c.723+6917A>G" "r.(?)" "p.(=)" "" "0000935709" "00025848" "50" "892" "0" "892" "0" "c.892A>G" "r.(?)" "p.(Thr298Ala)" "" "0000935710" "00001568" "50" "723" "6918" "723" "6918" "c.723+6918C>T" "r.(?)" "p.(=)" "" "0000935710" "00025848" "50" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Ile)" "" "0000935711" "00001568" "50" "723" "6926" "723" "6926" "c.723+6926G>A" "r.(?)" "p.(=)" "" "0000935711" "00025848" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Met)" "" "0000935712" "00001568" "50" "723" "6926" "723" "6926" "c.723+6926G>C" "r.(?)" "p.(=)" "" "0000935712" "00025848" "50" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Val301Leu)" "" "0000935713" "00001568" "50" "723" "6930" "723" "6930" "c.723+6930C>T" "r.(?)" "p.(=)" "" "0000935713" "00025848" "50" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ala302Val)" "" "0000935714" "00001568" "50" "723" "6932" "723" "6932" "c.723+6932T>C" "r.(?)" "p.(=)" "" "0000935714" "00025848" "50" "907" "0" "907" "0" "c.907T>C" "r.(?)" "p.(Tyr303His)" "" "0000935715" "00001568" "50" "723" "6938" "723" "6938" "c.723+6938C>G" "r.(?)" "p.(=)" "" "0000935715" "00025848" "50" "913" "0" "913" "0" "c.913C>G" "r.(?)" "p.(Gln305Glu)" "" "0000935716" "00001568" "50" "723" "6941" "723" "6941" "c.723+6941G>T" "r.(?)" "p.(=)" "" "0000935716" "00025848" "50" "916" "0" "916" "0" "c.916G>T" "r.(?)" "p.(Ala306Ser)" "" "0000935717" "00001568" "50" "723" "6942" "723" "6942" "c.723+6942C>A" "r.(?)" "p.(=)" "" "0000935717" "00025848" "50" "917" "0" "917" "0" "c.917C>A" "r.(?)" "p.(Ala306Asp)" "" "0000935718" "00001568" "50" "723" "6942" "723" "6942" "c.723+6942C>T" "r.(?)" "p.(=)" "" "0000935718" "00025848" "50" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Ala306Val)" "" "0000935719" "00001568" "50" "723" "6944" "723" "6944" "c.723+6944C>G" "r.(?)" "p.(=)" "" "0000935719" "00025848" "50" "919" "0" "919" "0" "c.919C>G" "r.(?)" "p.(Gln307Glu)" "" "0000935720" "00001568" "50" "723" "6945" "723" "6945" "c.723+6945A>G" "r.(?)" "p.(=)" "" "0000935720" "00025848" "50" "920" "0" "920" "0" "c.920A>G" "r.(?)" "p.(Gln307Arg)" "" "0000935721" "00001568" "50" "723" "6948" "723" "6948" "c.723+6948A>G" "r.(?)" "p.(=)" "" "0000935721" "00025848" "50" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Tyr308Cys)" "" "0000935722" "00001568" "50" "723" "6949" "723" "6949" "c.723+6949C>A" "r.(?)" "p.(=)" "" "0000935722" "00025848" "50" "924" "0" "924" "0" "c.924C>A" "r.(?)" "p.(Tyr308Ter)" "" "0000935723" "00001568" "50" "723" "6949" "723" "6949" "c.723+6949C>G" "r.(?)" "p.(=)" "" "0000935723" "00025848" "50" "924" "0" "924" "0" "c.924C>G" "r.(?)" "p.(Tyr308Ter)" "" "0000935724" "00001568" "50" "723" "6950" "723" "6950" "c.723+6950G>A" "r.(?)" "p.(=)" "" "0000935724" "00025848" "50" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Glu309Lys)" "" "0000935725" "00001568" "50" "723" "6951" "723" "6953" "c.723+6951_723+6953del" "r.(?)" "p.(=)" "" "0000935725" "00025848" "50" "926" "0" "928" "0" "c.926_928del" "r.(?)" "p.(Glu309_Ser310delinsGly)" "" "0000935726" "00001568" "50" "723" "6953" "723" "6953" "c.723+6953A>G" "r.(?)" "p.(=)" "" "0000935726" "00025848" "50" "928" "0" "928" "0" "c.928A>G" "r.(?)" "p.(Ser310Gly)" "" "0000935727" "00001568" "50" "723" "6957" "723" "6957" "c.723+6957A>G" "r.(?)" "p.(=)" "" "0000935727" "00025848" "50" "932" "0" "932" "0" "c.932A>G" "r.(?)" "p.(Lys311Arg)" "" "0000935728" "00001568" "50" "723" "6957" "723" "6957" "c.723+6957A>T" "r.(?)" "p.(=)" "" "0000935728" "00025848" "50" "932" "0" "932" "0" "c.932A>T" "r.(?)" "p.(Lys311Met)" "" "0000935729" "00001568" "50" "723" "6958" "723" "6958" "c.723+6958G>C" "r.(?)" "p.(=)" "" "0000935729" "00025848" "50" "933" "0" "933" "0" "c.933G>C" "r.(?)" "p.(Lys311Asn)" "" "0000935730" "00001568" "50" "723" "6960" "723" "6960" "c.723+6960A>G" "r.(?)" "p.(=)" "" "0000935730" "00025848" "50" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(Asn312Ser)" "" "0000935731" "00001568" "50" "723" "6960" "723" "6960" "c.723+6960A>T" "r.(?)" "p.(=)" "" "0000935731" "00025848" "50" "935" "0" "935" "0" "c.935A>T" "r.(?)" "p.(Asn312Ile)" "" "0000935732" "00001568" "50" "723" "6962" "723" "6963" "c.723+6962_723+6963del" "r.(?)" "p.(=)" "" "0000935732" "00025848" "50" "937" "0" "938" "0" "c.937_938del" "r.(?)" "p.(Lys313ValfsTer24)" "" "0000935733" "00001568" "50" "723" "6964" "723" "6964" "c.723+6964G>C" "r.(?)" "p.(=)" "" "0000935733" "00025848" "50" "939" "0" "939" "0" "c.939G>C" "r.(?)" "p.(Lys313Asn)" "" "0000935734" "00001568" "50" "723" "6965" "723" "6965" "c.723+6965T>C" "r.(?)" "p.(=)" "" "0000935734" "00025848" "50" "940" "0" "940" "0" "c.940T>C" "r.(?)" "p.(Ser314Pro)" "" "0000935735" "00001568" "50" "723" "6965" "723" "6967" "c.723+6965_723+6967del" "r.(?)" "p.(=)" "" "0000935735" "00025848" "50" "940" "0" "942" "0" "c.940_942del" "r.(?)" "p.(Ser314del)" "" "0000935736" "00001568" "50" "723" "6969" "723" "6969" "c.723+6969C>T" "r.(?)" "p.(=)" "" "0000935736" "00025848" "50" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Ala315Val)" "" "0000935737" "00001568" "50" "723" "6972" "723" "6972" "c.723+6972A>C" "r.(?)" "p.(=)" "" "0000935737" "00025848" "50" "947" "0" "947" "0" "c.947A>C" "r.(?)" "p.(His316Pro)" "" "0000935738" "00001568" "50" "723" "6972" "723" "6972" "c.723+6972A>G" "r.(?)" "p.(=)" "" "0000935738" "00025848" "50" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(His316Arg)" "" "0000935739" "00001568" "50" "723" "6975" "723" "6976" "c.723+6975_723+6976del" "r.(?)" "p.(=)" "" "0000935739" "00025848" "50" "950" "0" "951" "0" "c.950_951del" "r.(?)" "p.(Lys317ArgfsTer20)" "" "0000935740" "00001568" "50" "723" "6975" "723" "6975" "c.723+6975A>C" "r.(?)" "p.(=)" "" "0000935740" "00025848" "50" "950" "0" "950" "0" "c.950A>C" "r.(?)" "p.(Lys317Thr)" "" "0000935741" "00001568" "50" "723" "6975" "723" "6975" "c.723+6975A>G" "r.(?)" "p.(=)" "" "0000935741" "00025848" "50" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.(Lys317Arg)" "" "0000935742" "00001568" "50" "723" "6992" "723" "6992" "c.723+6992G>A" "r.(?)" "p.(=)" "" "0000935742" "00025848" "50" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Val323Ile)" "" "0000935743" "00001568" "50" "723" "7001" "723" "7001" "c.723+7001G>A" "r.(?)" "p.(=)" "" "0000935743" "00025848" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "" "0000935744" "00001568" "50" "723" "7001" "723" "7001" "c.723+7001G>T" "r.(?)" "p.(=)" "" "0000935744" "00025848" "50" "976" "0" "976" "0" "c.976G>T" "r.(?)" "p.(Ala326Ser)" "" "0000935745" "00001568" "50" "723" "7004" "723" "7004" "c.723+7004A>G" "r.(?)" "p.(=)" "" "0000935745" "00025848" "50" "979" "0" "979" "0" "c.979A>G" "r.(?)" "p.(Thr327Ala)" "" "0000935746" "00001568" "50" "723" "7007" "723" "7007" "c.723+7007G>A" "r.(?)" "p.(=)" "" "0000935746" "00025848" "50" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Asp328Asn)" "" "0000935747" "00001568" "50" "723" "7014" "723" "7014" "c.723+7014A>G" "r.(?)" "p.(=)" "" "0000935747" "00025848" "50" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asn330Ser)" "" "0000935748" "00001568" "50" "723" "7014" "723" "7014" "c.723+7014A>T" "r.(?)" "p.(=)" "" "0000935748" "00025848" "50" "989" "0" "989" "0" "c.989A>T" "r.(?)" "p.(Asn330Ile)" "" "0000935749" "00001568" "50" "723" "7017" "723" "7017" "c.723+7017A>G" "r.(?)" "p.(=)" "" "0000935749" "00025848" "50" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Asn331Ser)" "" "0000935750" "00001568" "50" "723" "7019" "723" "7019" "c.723+7019A>G" "r.(?)" "p.(=)" "" "0000935750" "00025848" "50" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Ile332Val)" "" "0000935751" "00001568" "50" "723" "7023" "723" "7023" "c.723+7023A>T" "r.(?)" "p.(=)" "" "0000935751" "00025848" "50" "998" "0" "998" "0" "c.998A>T" "r.(?)" "p.(Gln333Leu)" "" "0000935752" "00001568" "50" "723" "7029" "723" "7029" "c.723+7029T>C" "r.(?)" "p.(=)" "" "0000935752" "00025848" "50" "1004" "0" "1004" "0" "c.1004T>C" "r.(?)" "p.(Val335Ala)" "" "0000935753" "00001568" "50" "723" "7032" "723" "7032" "c.723+7032T>C" "r.(?)" "p.(=)" "" "0000935753" "00025848" "50" "1007" "0" "1007" "0" "c.1007T>C" "r.(?)" "p.(Phe336Ser)" "" "0000935754" "00001568" "50" "723" "7033" "723" "7033" "c.723+7033T>G" "r.(?)" "p.(=)" "" "0000935754" "00025848" "50" "1008" "0" "1008" "0" "c.1008T>G" "r.(?)" "p.(Phe336Leu)" "" "0000935755" "00001568" "50" "723" "7034" "723" "7034" "c.723+7034G>A" "r.(?)" "p.(=)" "" "0000935755" "00025848" "50" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Asp337Asn)" "" "0000935756" "00001568" "50" "723" "7036" "723" "7036" "c.723+7036T>G" "r.(?)" "p.(=)" "" "0000935756" "00025848" "50" "1011" "0" "1011" "0" "c.1011T>G" "r.(?)" "p.(Asp337Glu)" "" "0000935757" "00001568" "50" "723" "7038" "723" "7038" "c.723+7038C>T" "r.(?)" "p.(=)" "" "0000935757" "00025848" "50" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Ala338Val)" "" "0000935758" "00001568" "50" "723" "7041" "723" "7041" "c.723+7041T>C" "r.(?)" "p.(=)" "" "0000935758" "00025848" "50" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Val339Ala)" "" "0000935759" "00001568" "50" "723" "7044" "723" "7044" "c.723+7044C>T" "r.(?)" "p.(=)" "" "0000935759" "00025848" "50" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Thr340Met)" "" "0000935760" "00001568" "50" "723" "7049" "723" "7049" "c.723+7049G>A" "r.(?)" "p.(=)" "" "0000935760" "00025848" "50" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Val342Ile)" "" "0000935761" "00001568" "50" "723" "7049" "723" "7049" "c.723+7049G>T" "r.(?)" "p.(=)" "" "0000935761" "00025848" "50" "1024" "0" "1024" "0" "c.1024G>T" "r.(?)" "p.(Val342Phe)" "" "0000935762" "00001568" "50" "723" "7055" "723" "7055" "c.723+7055A>G" "r.(?)" "p.(=)" "" "0000935762" "00025848" "50" "1030" "0" "1030" "0" "c.1030A>G" "r.(?)" "p.(Ile344Val)" "" "0000935763" "00001568" "50" "723" "7058" "723" "7058" "c.723+7058G>A" "r.(?)" "p.(=)" "" "0000935763" "00025848" "50" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Ala345Thr)" "" "0000935764" "00001568" "50" "723" "7065" "723" "7065" "c.723+7065A>C" "r.(?)" "p.(=)" "" "0000935764" "00025848" "50" "1040" "0" "1040" "0" "c.1040A>C" "r.(?)" "p.(Asn347Thr)" "" "0000935765" "00001568" "30" "723" "7070" "723" "7070" "c.723+7070C>T" "r.(?)" "p.(=)" "" "0000935765" "00025848" "30" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Arg349Trp)" "" "0000935766" "00001568" "50" "723" "7071" "723" "7071" "c.723+7071G>A" "r.(?)" "p.(=)" "" "0000935766" "00025848" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Arg349Gln)" "" "0000935767" "00001568" "50" "723" "7077" "723" "7077" "c.723+7077G>A" "r.(?)" "p.(=)" "" "0000935767" "00025848" "50" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Cys351Tyr)" "" "0000935768" "00001568" "50" "723" "7078" "723" "7078" "c.723+7078T>G" "r.(?)" "p.(=)" "" "0000935768" "00025848" "50" "1053" "0" "1053" "0" "c.1053T>G" "r.(?)" "p.(Cys351Trp)" "" "0000935769" "00001568" "50" "723" "7086" "723" "7086" "c.723+7086A>G" "r.(?)" "p.(=)" "" "0000935769" "00025848" "50" "1061" "0" "1061" "0" "c.1061A>G" "r.(?)" "p.(Tyr354Cys)" "" "0000935770" "00001568" "70" "723" "4132" "723" "4132" "c.723+4132A>G" "r.(?)" "p.?" "" "0000935770" "00025848" "70" "877" "5" "877" "5" "c.877+5A>G" "r.spl?" "p.?" "" "0000935771" "00001568" "50" "723" "6926" "723" "6926" "c.723+6926G>C" "r.(?)" "p.?" "" "0000935771" "00025848" "50" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Val301Leu)" "" "0000935772" "00001568" "70" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Leu23Pro)" "" "0000935772" "00025848" "70" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Leu23Pro)" "" "0000935773" "00001568" "70" "111" "0" "113" "0" "c.111_113del" "r.(?)" "p.(Leu39del)" "" "0000935773" "00025848" "70" "111" "0" "113" "0" "c.111_113del" "r.(?)" "p.(Leu39del)" "" "0000935774" "00001568" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000935774" "00025848" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0000935775" "00001568" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935775" "00025848" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935776" "00001568" "90" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Gly40Trp)" "" "0000935776" "00025848" "90" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Gly40Trp)" "" "0000935777" "00001568" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Gly40Glu)" "" "0000935777" "00025848" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Gly40Glu)" "" "0000935778" "00001568" "90" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Gly42Arg)" "" "0000935778" "00025848" "90" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Gly42Arg)" "" "0000935779" "00001568" "90" "133" "0" "133" "0" "c.133G>C" "r.(?)" "p.(Gly45Arg)" "" "0000935779" "00025848" "90" "133" "0" "133" "0" "c.133G>C" "r.(?)" "p.(Gly45Arg)" "" "0000935780" "00001568" "90" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Gly45Glu)" "" "0000935780" "00025848" "90" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Gly45Glu)" "" "0000935781" "00001568" "90" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Lys46Glu)" "" "0000935781" "00025848" "90" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Lys46Glu)" "" "0000935782" "00001568" "70" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000935782" "00025848" "70" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000935783" "00001568" "70" "138" "0" "138" "0" "c.138A>T" "r.(?)" "p.(Lys46Asn)" "" "0000935783" "00025848" "70" "138" "0" "138" "0" "c.138A>T" "r.(?)" "p.(Lys46Asn)" "" "0000935784" "00001568" "90" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "0000935784" "00025848" "90" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" "" "0000935785" "00001568" "70" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Ser47Arg)" "" "0000935785" "00025848" "70" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Ser47Arg)" "" "0000935786" "00001568" "90" "155" "0" "155" "0" "c.155A>C" "r.(?)" "p.(Gln52Pro)" "" "0000935786" "00025848" "90" "155" "0" "155" "0" "c.155A>C" "r.(?)" "p.(Gln52Pro)" "" "0000935787" "00001568" "90" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Gln52Arg)" "" "0000935787" "00025848" "90" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Gln52Arg)" "" "0000935788" "00001568" "50" "164" "0" "164" "0" "c.164T>A" "r.(?)" "p.(Ile55Asn)" "" "0000935788" "00025848" "50" "164" "0" "164" "0" "c.164T>A" "r.(?)" "p.(Ile55Asn)" "" "0000935789" "00001568" "70" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Ile56Thr)" "" "0000935789" "00025848" "70" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Ile56Thr)" "" "0000935790" "00001568" "50" "170" "0" "170" "0" "c.170A>C" "r.(?)" "p.(His57Pro)" "" "0000935790" "00025848" "50" "170" "0" "170" "0" "c.170A>C" "r.(?)" "p.(His57Pro)" "" "0000935791" "00001568" "50" "218" "0" "218" "0" "c.218T>A" "r.(?)" "p.(Val73Asp)" "" "0000935791" "00025848" "50" "218" "0" "218" "0" "c.218T>A" "r.(?)" "p.(Val73Asp)" "" "0000935792" "00001568" "90" "220" "0" "220" "0" "c.220T>G" "r.(?)" "p.(Tyr74Asp)" "" "0000935792" "00025848" "90" "220" "0" "220" "0" "c.220T>G" "r.(?)" "p.(Tyr74Asp)" "" "0000935793" "00001568" "50" "425" "0" "425" "0" "c.425A>C" "r.(?)" "p.(Asn142Thr)" "" "0000935793" "00025848" "50" "425" "0" "425" "0" "c.425A>C" "r.(?)" "p.(Asn142Thr)" "" "0000935794" "00001568" "70" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Leu157Pro)" "" "0000935794" "00025848" "70" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Leu157Pro)" "" "0000935795" "00001568" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000935795" "00025848" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000935796" "00001568" "90" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asp174Gly)" "" "0000935796" "00025848" "90" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asp174Gly)" "" "0000935797" "00001568" "90" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Asp174Asn)" "" "0000935797" "00025848" "90" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Asp174Asn)" "" "0000935798" "00001568" "70" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Arg177Pro)" "" "0000935798" "00025848" "70" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Arg177Pro)" "" "0000935799" "00001568" "90" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Arg179Gly)" "" "0000935799" "00025848" "90" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Arg179Gly)" "" "0000935800" "00001568" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935800" "00025848" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935801" "00001568" "90" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Ser)" "" "0000935801" "00025848" "90" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Ser)" "" "0000935802" "00001568" "70" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Gly184Arg)" "" "0000935802" "00025848" "70" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Gly184Arg)" "" "0000935803" "00001568" "90" "572" "0" "592" "0" "c.572_592del" "r.spl" "p.(Thr191_Phe197del)" "" "0000935803" "00025848" "90" "572" "0" "592" "0" "c.572_592del" "r.spl" "p.(Thr191_Phe197del)" "" "0000935804" "00001568" "70" "594" "-2" "594" "-2" "c.594-2del" "r.(?)" "p.?" "" "0000935804" "00025848" "70" "594" "-2" "594" "-2" "c.594-2del" "r.(?)" "p.?" "" "0000935805" "00001568" "90" "596" "0" "596" "0" "c.596T>C" "r.(?)" "p.(Leu199Pro)" "" "0000935805" "00025848" "90" "596" "0" "596" "0" "c.596T>C" "r.(?)" "p.(Leu199Pro)" "" "0000935806" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935806" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000935807" "00001568" "90" "610" "0" "610" "0" "c.610G>C" "r.(?)" "p.(Gly204Arg)" "" "0000935807" "00025848" "90" "610" "0" "610" "0" "c.610G>C" "r.(?)" "p.(Gly204Arg)" "" "0000935808" "00001568" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Gly204Asp)" "" "0000935808" "00025848" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Gly204Asp)" "" "0000935809" "00001568" "70" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000935809" "00025848" "70" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000935810" "00001568" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000935810" "00025848" "90" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" "" "0000935811" "00001568" "90" "617" "0" "617" "0" "c.617G>T" "r.(?)" "p.(Arg206Leu)" "" "0000935811" "00025848" "90" "617" "0" "617" "0" "c.617G>T" "r.(?)" "p.(Arg206Leu)" "" "0000935812" "00001568" "90" "620" "0" "620" "0" "c.620C>T" "r.(?)" "p.(Ser207Phe)" "" "0000935812" "00025848" "90" "620" "0" "620" "0" "c.620C>T" "r.(?)" "p.(Ser207Phe)" "" "0000935813" "00001568" "90" "620" "0" "620" "0" "c.620C>A" "r.(?)" "p.(Ser207Tyr)" "" "0000935813" "00025848" "90" "620" "0" "620" "0" "c.620C>A" "r.(?)" "p.(Ser207Tyr)" "" "0000935814" "00001568" "90" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Glu208Gln)" "" "0000935814" "00025848" "90" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Glu208Gln)" "" "0000935815" "00001568" "90" "625" "0" "625" "0" "c.625C>G" "r.(?)" "p.(Arg209Gly)" "" "0000935815" "00025848" "90" "625" "0" "625" "0" "c.625C>G" "r.(?)" "p.(Arg209Gly)" "" "0000935816" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935816" "00025848" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935817" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935817" "00025848" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000935818" "00001568" "90" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Arg209Pro)" "" "0000935818" "00025848" "90" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Arg209Pro)" "" "0000935819" "00001568" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935819" "00025848" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Arg209Leu)" "" "0000935820" "00001568" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935820" "00025848" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Cys215Tyr)" "" "0000935821" "00001568" "90" "662" "0" "662" "0" "c.662C>A" "r.(?)" "p.(Ala221Asp)" "" "0000935821" "00025848" "90" "662" "0" "662" "0" "c.662C>A" "r.(?)" "p.(Ala221Asp)" "" "0000935822" "00001568" "70" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Cys225Tyr)" "" "0000935822" "00025848" "70" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Cys225Tyr)" "" "0000935823" "00001568" "70" "676" "0" "677" "0" "c.676_677del" "r.(?)" "p.(Val226ArgfsTer6)" "" "0000935823" "00025848" "70" "676" "0" "677" "0" "c.676_677del" "r.(?)" "p.(Val226ArgfsTer6)" "" "0000935824" "00001568" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935824" "00025848" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ala227Val)" "" "0000935825" "00001568" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Leu228Pro)" "" "0000935825" "00025848" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Leu228Pro)" "" "0000935826" "00001568" "90" "687" "0" "687" "0" "c.687C>A" "r.(?)" "p.(Ser229Arg)" "" "0000935826" "00025848" "90" "687" "0" "687" "0" "c.687C>A" "r.(?)" "p.(Ser229Arg)" "" "0000935827" "00001568" "90" "687" "0" "687" "0" "c.687C>G" "r.(?)" "p.(Ser229Arg)" "" "0000935827" "00025848" "90" "687" "0" "687" "0" "c.687C>G" "r.(?)" "p.(Ser229Arg)" "" "0000935828" "00001568" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935828" "00025848" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935829" "00001568" "70" "698" "0" "698" "0" "c.698A>C" "r.(?)" "p.(Gln233Pro)" "" "0000935829" "00025848" "70" "698" "0" "698" "0" "c.698A>C" "r.(?)" "p.(Gln233Pro)" "" "0000935830" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935830" "00025848" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935831" "00001568" "70" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asp238Gly)" "" "0000935831" "00025848" "70" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asp238Gly)" "" "0000935832" "00001568" "90" "723" "1" "723" "1" "c.723+1G>A" "r.spl" "p.?" "" "0000935832" "00025848" "90" "723" "1" "723" "1" "c.723+1G>A" "r.spl" "p.?" "" "0000935833" "00001568" "70" "723" "1" "723" "1" "c.723+1G>T" "r.spl" "p.?" "" "0000935833" "00025848" "70" "723" "1" "723" "1" "c.723+1G>T" "r.spl" "p.?" "" "0000935834" "00001568" "70" "723" "2" "723" "2" "c.723+2T>A" "r.spl" "p.?" "" "0000935834" "00025848" "70" "723" "2" "723" "2" "c.723+2T>A" "r.spl" "p.?" "" "0000935835" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935836" "00001568" "90" "725" "0" "725" "0" "c.725A>C" "r.(?)" "p.(Asn242Thr)" "" "0000935837" "00001568" "70" "730" "0" "731" "0" "c.730_731delinsCG" "r.(?)" "p.(Met244Arg)" "" "0000935838" "00001568" "90" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0000935839" "00001568" "70" "736" "0" "736" "0" "c.736G>C" "r.(?)" "p.(Glu246Gln)" "" "0000935840" "00001568" "70" "735" "0" "737" "0" "c.735_737dup" "r.(?)" "p.(His245_Glu246insAsp)" "" "0000935841" "00001568" "70" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(Glu246Gly)" "" "0000935842" "00001568" "70" "737" "0" "737" "0" "c.737A>T" "r.(?)" "p.(Glu246Val)" "" "0000935843" "00001568" "70" "765" "0" "765" "0" "c.765dup" "r.(?)" "p.(Asn256Ter)" "" "0000935844" "00001568" "90" "808" "0" "808" "0" "c.808A>C" "r.(?)" "p.(Asn270His)" "" "0000935845" "00001568" "90" "808" "0" "808" "0" "c.808A>G" "r.(?)" "p.(Asn270Asp)" "" "0000935846" "00001568" "70" "810" "0" "810" "0" "c.810C>A" "r.(?)" "p.(Asn270Lys)" "" "0000935847" "00001568" "70" "817" "0" "817" "0" "c.817G>T" "r.(?)" "p.(Asp273Tyr)" "" "0000935848" "00001568" "70" "818" "0" "818" "0" "c.818A>T" "r.(?)" "p.(Asp273Val)" "" "0000935849" "00001568" "90" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Phe275Ser)" "" "0000935851" "00001568" "90" "836" "0" "836" "0" "c.836T>A" "r.(?)" "p.(Ile279Asn)" "" "0000935852" "00001568" "90" "851" "0" "851" "0" "c.851T>C" "r.(?)" "p.(Leu284Ser)" "" "0000935853" "00001568" "50" "863" "0" "863" "0" "c.863T>C" "r.(?)" "p.(Phe288Ser)" "" "0000935854" "00001568" "90" "871" "0" "871" "0" "c.871T>A" "r.(?)" "p.(Tyr291Asn)" "" "0000935855" "00001568" "70" "872" "0" "872" "0" "c.872A>G" "r.(?)" "p.(Tyr291Cys)" "" "0000935856" "00001568" "70" "904" "0" "906" "0" "c.904_906del" "r.(?)" "p.(Ala302del)" "" "0000935857" "00001568" "70" "980" "0" "980" "0" "c.980C>A" "r.(?)" "p.(Thr327Lys)" "" "0000935858" "00001568" "50" "986" "0" "986" "0" "c.986del" "r.(?)" "p.(Thr329ArgfsTer45)" "" "0000935859" "00001568" "70" "1013" "0" "1015" "0" "c.1013_1015del" "r.(?)" "p.(Ala338del)" "" "0000935860" "00001568" "90" "1030" "0" "1032" "0" "c.1030_1032del" "r.(?)" "p.(Ile344del)" "" "0000935861" "00001568" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Glu20Lys)" "" "0000935861" "00025848" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Glu20Lys)" "" "0000935862" "00001568" "50" "723" "3976" "723" "3976" "c.723+3976C>A" "r.(?)" "p.(=)" "" "0000935862" "00025848" "50" "723" "3976" "723" "3976" "c.723+3976C>A" "r.(?)" "p.(=)" "" "0000935863" "00001568" "50" "723" "6993" "723" "6995" "c.723+6993_723+6995del" "r.(?)" "p.(=)" "" "0000935863" "00025848" "50" "723" "6993" "723" "6995" "c.723+6993_723+6995del" "r.(?)" "p.(=)" "" "0000935864" "00001568" "50" "723" "6954" "723" "6955" "c.723+6954_723+6955del" "r.(?)" "p.(=)" "" "0000935864" "00025848" "50" "723" "6954" "723" "6955" "c.723+6954_723+6955del" "r.(?)" "p.(=)" "" "0000935865" "00001568" "50" "723" "6956" "723" "6957" "c.723+6956_723+6957del" "r.(?)" "p.(=)" "" "0000935865" "00025848" "50" "723" "6956" "723" "6957" "c.723+6956_723+6957del" "r.(?)" "p.(=)" "" "0000935866" "00001568" "50" "723" "6956" "723" "6967" "c.723+6956_723+6967del" "r.(?)" "p.(=)" "" "0000935866" "00025848" "50" "723" "6956" "723" "6967" "c.723+6956_723+6967del" "r.(?)" "p.(=)" "" "0000935867" "00001568" "50" "723" "6960" "723" "6969" "c.723+6960_723+6969del" "r.(?)" "p.(=)" "" "0000935867" "00025848" "50" "723" "6960" "723" "6969" "c.723+6960_723+6969del" "r.(?)" "p.(=)" "" "0000935868" "00001568" "50" "723" "6948" "723" "6949" "c.723+6948_723+6949insTTTTTTTTTTAATGATA" "r.(?)" "p.(=)" "" "0000935868" "00025848" "50" "723" "6948" "723" "6949" "c.723+6948_723+6949insTTTTTTTTTTAATGATA" "r.(?)" "p.(=)" "" "0000935869" "00001568" "50" "723" "6952" "723" "6953" "c.723+6952_723+6953insTTTTTT" "r.(?)" "p.(=)" "" "0000935869" "00025848" "50" "723" "6952" "723" "6953" "c.723+6952_723+6953insTTTTTT" "r.(?)" "p.(=)" "" "0000935870" "00001568" "50" "723" "6959" "723" "6960" "c.723+6959_723+6960insT" "r.(?)" "p.(=)" "" "0000935870" "00025848" "50" "723" "6959" "723" "6960" "c.723+6959_723+6960insT" "r.(?)" "p.(=)" "" "0000935871" "00001568" "50" "723" "6969" "723" "6970" "c.723+6969_723+6970insGA" "r.(?)" "p.(=)" "" "0000935871" "00025848" "50" "723" "6969" "723" "6970" "c.723+6969_723+6970insGA" "r.(?)" "p.(=)" "" "0000935872" "00001568" "30" "771" "0" "773" "0" "c.771_773del" "r.(?)" "p.(Asn257del)" "" "0000935873" "00001568" "50" "1037" "0" "1037" "0" "c.1037T>A" "r.(?)" "p.(Asn346Ile)" "" "0000935874" "00001568" "50" "1046" "0" "1055" "0" "c.1046_1055delinsN[10]" "r.(?)" "p.Arg349_Gly352delinsGlnGlyCysAla)" "" "0000935875" "00001568" "90" "724" "-8" "724" "-8" "c.724-8G>A" "r.spl" "p.(Thr241_Asn242insProGln)" "" "0000935876" "00001568" "90" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Gly40Arg)" "" "0000935877" "00001568" "90" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000935878" "00001568" "90" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Thr48Ile)" "" "0000935879" "00001568" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935880" "00001568" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Ile)" "" "0000935881" "00001568" "90" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Arg209Pro)" "" "0000935882" "00001568" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0000935883" "00001568" "90" "704" "0" "704" "0" "c.704T>C" "r.(?)" "p.(Leu235Pro)" "" "0000935884" "00001568" "90" "871" "0" "871" "0" "c.871T>A" "r.(?)" "p.(Tyr291Asn)" "" "0000935885" "00001568" "90" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Gly203Arg)" "" "0000935886" "00001568" "90" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Gly203Arg)" "" "0000935887" "00001568" "90" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Gly203Arg)" "" "0000935888" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935889" "00001568" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000935890" "00001568" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000935906" "00001568" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000935910" "00001568" "90" "5025" "0" "5032" "0" "c.5025_5032dup" "r.(?)" "p.(Tyr1678CysfsTer151)" "" "0000935911" "00001568" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000935917" "00001568" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000935921" "00001568" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000935934" "00001568" "70" "1543" "0" "1543" "0" "c.1543A>C" "r.(?)" "p.(Asn515His)" "" "0000935952" "00001568" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000935953" "00001568" "90" "734" "0" "734" "0" "c.734dup" "r.(?)" "p.(Glu246ArgfsTer21)" "" "0000935978" "00001568" "90" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Ser211Phe)" "" "0000935979" "00001568" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Arg217ProfsTer8)" "" "0000935980" "00001568" "90" "6926" "0" "6927" "0" "c.6926_6927del" "r.(?)" "p.(Glu2309AlafsTer7)" "" "0000935984" "00001568" "70" "2957" "0" "2957" "0" "c.2957C>A" "r.(?)" "p.(Ser986Tyr)" "" "0000935998" "00001568" "70" "365" "0" "365" "0" "c.365T>A" "r.(?)" "p.(Leu122Gln)" "" "0000936016" "00001568" "70" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Val283Ala)" "" "0000936039" "00001568" "90" "1168" "0" "1168" "0" "c.1168A>T" "r.(?)" "p.(Thr390Ser)" "" "0000936043" "00001568" "90" "163" "0" "164" "0" "c.163_164del" "r.163_164del" "p.Ile55HisfsTer3" "" "0000936043" "00025848" "90" "163" "0" "164" "0" "c.163_164del" "r.163_164del" "p.Ile55HisfsTer3" "" "0000936465" "00001568" "90" "607" "0" "607" "0" "c.607G>A" "" "" "" "0000936465" "00025848" "90" "607" "0" "607" "0" "c.607G>A" "" "" "" "0000939803" "00001568" "70" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "1" "0000968404" "00001568" "50" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Arg349Trp)" "" "0000968404" "00025848" "50" "12148" "0" "12148" "0" "c.*11083C>T" "r.(=)" "p.(=)" "" "0000981947" "00001568" "30" "723" "4368" "723" "4368" "c.723+4368G>A" "r.(=)" "p.(=)" "" "0000981947" "00025848" "30" "877" "241" "877" "241" "c.877+241G>A" "r.(=)" "p.(=)" "" "0001002428" "00001568" "30" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Glu94Lys)" "" "0001002428" "00025848" "30" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Glu94Lys)" "" "0001002429" "00001568" "50" "448" "0" "448" "0" "c.448A>C" "r.(?)" "p.(Asn150His)" "" "0001002429" "00025848" "50" "448" "0" "448" "0" "c.448A>C" "r.(?)" "p.(Asn150His)" "" "0001002430" "00001568" "50" "894" "0" "894" "0" "c.894A>T" "r.(?)" "p.(Glu298Asp)" "" "0001002430" "00025848" "50" "11997" "0" "11997" "0" "c.*10932A>T" "r.(=)" "p.(=)" "" "0001008582" "00001568" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Asp134Asn)" "" "0001008594" "00001568" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ala165Val)" "" "0001011143" "00001568" "50" "484" "0" "484" "0" "c.484C>G" "r.(?)" "p.(Arg162Gly)" "" "0001011143" "00025848" "50" "484" "0" "484" "0" "c.484C>G" "r.(?)" "p.(Arg162Gly)" "" "0001011988" "00001568" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0001015396" "00001568" "30" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(=)" "" "0001015396" "00025848" "30" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(=)" "" "0001041196" "00001568" "50" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(His57Arg)" "" "0001041196" "00025848" "50" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(His57Arg)" "" "0001041197" "00001568" "70" "511" "0" "511" "0" "c.511A>C" "r.(?)" "p.(Thr171Pro)" "" "0001041197" "00025848" "70" "511" "0" "511" "0" "c.511A>C" "r.(?)" "p.(Thr171Pro)" "" "0001041198" "00001568" "30" "723" "7058" "723" "7058" "c.723+7058G>A" "r.(=)" "p.(=)" "" "0001041198" "00025848" "30" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Ala345Thr)" "" "0001041199" "00001568" "30" "724" "-6961" "724" "-6961" "c.724-6961A>G" "r.(=)" "p.(=)" "" "0001041199" "00025848" "30" "1538" "0" "1538" "0" "c.*473A>G" "r.(=)" "p.(=)" "" "0001047727" "00001568" "50" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Arg177Gln)" "" "0001055596" "00001568" "50" "723" "7033" "723" "7033" "c.723+7033T>G" "r.(=)" "p.(=)" "" "0001055596" "00025848" "50" "1008" "0" "1008" "0" "c.1008T>G" "r.(?)" "p.(Phe336Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 327 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013577" "0000033921" "0000060770" "0000033922" "0000060771" "0000033923" "0000060772" "0000033925" "0000060773" "0000050388" "0000079368" "0000050392" "0000079372" "0000050419" "0000079399" "0000089359" "0000147296" "0000117391" "0000188236" "0000165295" "0000368954" "0000271056" "0000624904" "0000300566" "0000663287" "0000304094" "0000667492" "0000304099" "0000667497" "0000316052" "0000698178" "0000405117" "0000841178" "0000414233" "0000871841" "0000414234" "0000871842" "0000414235" "0000871843" "0000414236" "0000871844" "0000439475" "0000935202" "0000439476" "0000935203" "0000439477" "0000935204" "0000439478" "0000935205" "0000439479" "0000935206" "0000439480" "0000935207" "0000439481" "0000935208" "0000439482" "0000935209" "0000439483" "0000935210" "0000439484" "0000935211" "0000439485" "0000935212" "0000439486" "0000935213" 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