### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RBM8A) # 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}}" "RBM8A" "RNA binding motif protein 8A" "1" "q21.1" "unknown" "LRG_574" "UD_136090505632" "" "https://www.LOVD.nl/RBM8A" "" "1" "9905" "9939" "605313" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/RBM8A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-04-29 00:00:00" "00006" "2019-08-22 12:38:01" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017505" "RBM8A" "RNA binding motif protein 8A" "001" "NM_005105.3" "" "NP_005096.1" "" "" "" "-110" "4850" "525" "145507557" "145513536" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00861" "TAR" "thrombocytopenia-absent radius syndrome (TAR)" "AR" "274000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RBM8A" "00139" "RBM8A" "00861" ## Individuals ## Do not remove or alter this header ## ## Count = 120 "{{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}}" "00263166" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "12 (mother of 10)" "00263167" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "14 (father of 13)" "00263168" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "18 (mother of 16)" "00263169" "" "" "" "1" "" "00000" "" "patient" "?" "no" "" ">23y" "0" "" "" "" "19" "00263170" "" "" "" "1" "" "00000" "" "patient" "?" "no" "" ">23y" "0" "" "" "" "20" "00263171" "" "" "" "1" "" "00000" "" "patient" "?" "no" "" ">26y" "0" "" "" "" "21" "00263172" "" "" "" "1" "" "00000" "" "patient" "?" "no" "" ">27y" "0" "" "" "" "22" "00263173" "" "" "" "1" "" "00000" "" "2-generation family, 1 affected" "?" "no" "" "" "0" "" "" "" "23" "00263174" "" "" "" "1" "" "00000" "" "2-generation family, parent patient" "?" "no" "" "" "0" "" "" "" "25 (parent of 23)" "00263175" "" "" "" "1" "" "00000" "" "2-generation family, 1 affected" "?" "no" "" ">29y" "0" "" "" "" "33" "00263176" "" "" "" "1" "" "00000" "" "2-generation family, parent patient" "?" "no" "" "" "0" "" "" "" "32 (parent of 33)" "00263177" "" "" "" "1" "" "00000" "" "2-generation family, 2 affecteds" "?" "no" "" "" "0" "" "" "" "40" "00263178" "" "" "" "1" "" "00000" "" "2-generation family, 2 affecteds" "?" "no" "" "" "0" "" "" "" "41" "00263179" "" "" "" "1" "" "00000" "" "2-generation family, parent 2 patients" "?" "no" "" "" "0" "" "" "" "39 (parent 2 of 40 and 41)" "00263180" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "49 (father of 47)" "00263181" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "52 (father of 50)" "00263182" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "54 (mother of 53)" "00263183" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "58 (father of 56)" "00263184" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "61 (father of 59)" "00263185" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "67 (father of 65)" "00263186" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "87 (father of 85)" "00263187" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "90 (mother of 85)" "00263188" "" "" "" "1" "" "00000" "" "patient" "F" "no" "" ">4y" "0" "" "" "" "88" "00263189" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "94 (father of 92)" "00263190" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "97 (father of 95)" "00263191" "" "" "" "1" "" "00000" "" "patient" "F" "no" "" ">4y" "0" "" "" "" "98" "00263192" "" "" "" "1" "" "00000" "" "patient" "?" "no" "" "" "0" "" "" "" "113" "00263193" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "117 (father of 116)" "00263194" "" "" "" "1" "" "00000" "" "patient" "M" "no" "" "" "0" "" "" "" "122" "00263195" "" "" "" "1" "" "00000" "" "patient" "F" "no" "" ">22y" "0" "" "" "" "124" "00263196" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "127 (mother of 125" "00263197" "" "" "" "1" "" "00000" "" "2-generation family, father mother patient" "M" "no" "" "" "0" "" "" "" "133 (father of 132)" "00263198" "" "" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">17y" "0" "" "" "" "139" "00263199" "" "" "" "1" "" "00000" "" "2-generation family, parent patient" "?" "no" "" "" "0" "" "" "" "138 (parent of 138)" "00263200" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "143 (mother of 142)" "00263201" "" "" "" "1" "" "00000" "" "" "" "no" "" "" "0" "" "" "" "" "00263202" "" "" "" "7" "" "00000" "" "" "" "no" "" "" "0" "" "" "" "" "00263203" "" "" "" "431" "" "00000" "" "" "" "no" "" "" "0" "" "" "" "" "00263204" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "?" "no" "" "" "0" "" "" "" "106 (mother of 1) father?" "00263205" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "110 (father of 2)" "00263206" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "107 (mother of 4)" "00263207" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "111 (mother of 5)" "00263208" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "81 (mother of 6)" "00263209" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "90 (mother of 7)" "00263210" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "99 (mother of 8)" "00263211" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "100 (father of 8)" "00263212" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "15 (mother of 13)" "00263213" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "17 (father of 16)" "00263214" "" "" "" "1" "" "00000" "" "2-generation family, parent 2 patients" "?" "no" "" "" "0" "" "" "" "38 (parent 1 of 40 and 41)" "00263215" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "43 (mother of 42)" "00263216" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "48 (mother of 47)" "00263217" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "51 (mother of 50)" "00263218" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "55 (father of 53)" "00263219" "" "" "" "1" "" "00000" "" "patient" "M" "no" "" ">23y" "0" "" "" "" "64" "00263220" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "66 (mother of 65)" "00263221" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "69 (mother of 68)" "00263222" "" "" "" "1" "" "00000" "" "2-generation family, mother 2 patients" "F" "no" "" "" "0" "" "" "" "72 (mother of 70 and 71)" "00263223" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "75 (mother of 74)" "00263224" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "77 (mother of 76)" "00263225" "" "" "" "1" "" "00000" "" "patient" "M" "no" "" ">8y" "0" "" "" "" "89" "00263226" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "96 (mother of 95)" "00263227" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "102 (mother of 101)" "00263228" "" "" "" "1" "" "00000" "" "2-generation family, 1 affected" "?" "no" "" ">8y" "0" "" "" "" "114" "00263229" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "118 (mother of 116)" "00263230" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "145 (mother of 121)" "00263231" "" "" "" "1" "" "00000" "" "patient" "?" "no" "" "" "0" "" "" "" "123" "00263232" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "126 (father of 125)" "00263233" "" "" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">8y" "0" "" "" "" "128" "00263234" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "144 (father of 142)" "00263235" "" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "103 (mother of 3)" "00263236" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "108 (father of 4)" "00263237" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "112 (father of 5)" "00263238" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "82 (father of 6)" "00263239" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "91 (father of 7)" "00263240" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "11 (father of 10)" "00263242" "" "" "" "1" "" "00000" "" "2-generation family, parent patient" "?" "no" "" "" "0" "" "" "" "31(parent of 33)" "00263243" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "44 (father of 42)" "00263246" "" "" "" "1" "" "00000" "" "2-generation family, father 2 patients" "M" "no" "" "" "0" "" "" "" "73 (father of 70 and 71)" "00263247" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "78 (father of 76)" "00263251" "" "" "" "1" "" "00000" "" "2-generation family, parent patient" "?" "no" "" "" "0" "" "" "" "131 (parent of 114)" "00263253" "" "" "" "1" "" "00000" "" "2-generation family, parent patient" "?" "no" "" "" "0" "" "" "" "129 (parent of 128)" "00263255" "" "" "" "62" "" "00000" "" "" "" "no" "" "" "0" "" "" "" "" "00263258" "" "" "" "1" "" "00000" "" "2-generation family, father patient" "M" "no" "" "" "0" "" "" "" "104 (father of 3)" "00263259" "" "" "" "1" "" "00000" "" "patient" "F" "no" "" ">9y" "0" "" "" "" "140" "00263260" "00263167" "00263212" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">5y" "0" "" "" "" "13" "00263261" "00263213" "00263168" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">15y" "0" "" "" "" "16" "00263262" "00263180" "00263216" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">4m" "0" "" "" "" "47" "00263263" "00263181" "00263217" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">26y" "0" "" "" "" "50" "00263264" "00263218" "00263182" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">1y" "0" "" "" "" "53" "00263265" "00263183" "00263244" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">34y" "0" "" "" "" "56" "00263266" "00263184" "00263245" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">26y" "0" "" "" "" "59" "00263267" "00263185" "00263220" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">34y" "0" "" "" "" "65" "00263268" "" "00263248" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">37y" "0" "" "" "" "83" "00263269" "00263186" "00263187" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">17d" "0" "" "" "" "85" "00263270" "00263189" "00263249" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">1y6m" "0" "" "" "" "92" "00263271" "00263190" "00263226" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">6y" "0" "" "" "" "95" "00263272" "" "00263227" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">17y" "0" "" "" "" "101" "00263273" "00263193" "00263229" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">8y" "0" "" "" "" "116" "00263274" "00263232" "00263196" "" "1" "" "00000" "" "2-generation family, 1 affected" "?" "no" "" "" "0" "" "" "" "125" "00263275" "" "00263233" "" "1" "" "00000" "" "2-generation family, 1 affected" "?" "no" "" "" "0" "" "" "" "134" "00263276" "00263254" "" "" "1" "" "00000" "" "2-generation family, 1 affected" "?" "no" "" "" "0" "" "" "" "136" "00263277" "00263234" "00263200" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">16y" "0" "" "" "" "142" "00263278" "00263204" "00263256" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">31y" "0" "" "" "" "1" "00263279" "00263205" "00263257" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">6m" "0" "" "" "" "2" "00263280" "00263236" "00263206" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">14y" "0" "" "" "" "4" "00263281" "00263237" "00263207" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">29y" "0" "" "" "" "5" "00263282" "00263238" "00263208" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">28y6m" "0" "" "" "" "6" "00263283" "00263239" "00263209" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">22y" "0" "" "" "" "7" "00263284" "00263211" "00263210" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">2d" "0" "" "" "" "8" "00263285" "00263240" "00263166" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">28y" "0" "" "" "" "10" "00263286" "00263243" "00263215" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">17y" "0" "" "" "" "42" "00263287" "" "00263221" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">1y6m" "0" "" "" "" "68" "00263288" "00263246" "00263222" "" "1" "" "00000" "" "2-generation family, 2 affecteds" "F" "no" "" ">18y" "0" "" "" "" "70" "00263289" "00263246" "00263222" "" "1" "" "00000" "" "2-generation family, 2 affecteds" "F" "no" "" ">6m" "0" "" "" "" "71" "00263290" "" "00263223" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">39y" "0" "" "" "" "74" "00263291" "00263247" "00263224" "" "1" "" "00000" "" "2-generation family, 1 affected" "M" "no" "" ">2y" "0" "" "" "" "76" "00263292" "00263252" "00263230" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">36y" "0" "" "" "" "121" "00263293" "00263197" "" "" "1" "" "00000" "" "2-generation family, mother patient" "F" "no" "" "" "0" "" "" "" "132 (mother of 134)" "00263294" "00263258" "00263235" "" "1" "" "00000" "" "2-generation family, 1 affected" "F" "no" "" ">14y" "0" "" "" "" "3" "00289516" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 120 "{{individualid}}" "{{diseaseid}}" "00263166" "00000" "00263167" "00000" "00263168" "00000" "00263169" "00861" "00263170" "00861" "00263171" "00861" "00263172" "00861" "00263173" "00861" "00263174" "00000" "00263175" "00861" "00263176" "00000" "00263177" "00861" "00263178" "00861" "00263179" "00000" "00263180" "00000" "00263181" "00000" "00263182" "00000" "00263183" "00000" "00263184" "00000" "00263185" "00000" "00263186" "00000" "00263187" "00000" "00263188" "00861" "00263189" "00000" "00263190" "00000" "00263191" "00861" "00263192" "00861" "00263193" "00000" "00263194" "00861" "00263195" "00861" "00263196" "00000" "00263197" "00000" "00263198" "00861" "00263199" "00000" "00263200" "00000" "00263201" "00000" "00263202" "00000" "00263203" "00000" "00263204" "00000" "00263205" "00000" "00263206" "00000" "00263207" "00000" "00263208" "00000" "00263209" "00000" "00263210" "00000" "00263211" "00000" "00263212" "00000" "00263213" "00000" "00263214" "00000" "00263215" "00000" "00263216" "00000" "00263217" "00000" "00263218" "00000" "00263219" "00861" "00263220" "00000" "00263221" "00000" "00263222" "00000" "00263223" "00000" "00263224" "00000" "00263225" "00861" "00263226" "00000" "00263227" "00000" "00263228" "00861" "00263229" "00000" "00263230" "00861" "00263231" "00861" "00263232" "00000" "00263233" "00861" "00263234" "00000" "00263235" "00000" "00263236" "00000" "00263237" "00000" "00263238" "00000" "00263239" "00000" "00263240" "00000" "00263242" "00000" "00263243" "00000" "00263246" "00000" "00263247" "00000" "00263251" "00000" "00263253" "00000" "00263255" "00000" "00263258" "00000" "00263259" "00861" "00263260" "00861" "00263261" "00861" "00263262" "00861" "00263263" "00861" "00263264" "00861" "00263265" "00861" "00263266" "00861" "00263267" "00861" "00263268" "00861" "00263269" "00861" "00263270" "00861" "00263271" "00861" "00263272" "00861" "00263273" "00861" "00263274" "00861" "00263275" "00861" "00263276" "00861" "00263277" "00861" "00263278" "00861" "00263279" "00861" "00263280" "00861" "00263281" "00861" "00263282" "00861" "00263283" "00861" "00263284" "00861" "00263285" "00861" "00263286" "00861" "00263287" "00861" "00263288" "00861" "00263289" "00861" "00263290" "00861" "00263291" "00861" "00263292" "00861" "00263293" "00000" "00263294" "00861" "00289516" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00861 ## Count = 55 "{{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}}" "0000201599" "00861" "00263173" "00000" "Isolated (sporadic)" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201600" "00861" "00263265" "00000" "Isolated (sporadic)" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201601" "00861" "00263266" "00000" "Isolated (sporadic)" "" "birth weight 2600g; platelet count (x 109/L) lowest 10 , highest 200; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201602" "00861" "00263268" "00000" "Isolated (sporadic)" "" "platelet count (x 109/L) lowest 74 , highest 136; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance?" "" "" "no neonatal problems" "" "" "" "" "" "" "" "" "0000201603" "00861" "00263270" "00000" "Isolated (sporadic)" "" "platelet count (x 109/L) lowest 7 , highest 65; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201604" "00861" "00263276" "00000" "Isolated (sporadic)" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201605" "00861" "00263278" "00000" "Isolated (sporadic)" "" "platelet count (x 109/L) lowest 110 , highest 111; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance?" "" "" "neonatal diarrhoea" "" "" "" "" "" "" "" "" "0000201606" "00861" "00263279" "00000" "Isolated (sporadic)" "" "delivery 41w, birth weight 3549g; platelet count (x 109/L) lowest 7 , highest 20; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance?" "" "" "neonatal bruising" "" "" "" "" "" "" "" "" "0000201607" "00861" "00263228" "00000" "Isolated (sporadic)" "" "delivery 42w, birth weight 2960g; platelet count (x 109/L) lowest ? , highest 43; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "bleeding" "" "" "" "" "" "" "" "" "0000201608" "00861" "00263292" "00000" "Isolated (sporadic)" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplasticnono cardio-vascular abnormality; cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201609" "00861" "00263260" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 2670g; platelet count (x 109/L) lowest 37 , highest 43; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal phototherapy" "" "" "" "" "" "" "" "" "0000201610" "00861" "00263261" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 3150g; platelet count (x 109/L) lowest 29 , highest 64; upper limb absence of radius, ulna and humerus, hypoplasia of scapula; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance" "" "" "neonatal bleeding" "" "" "" "" "" "" "" "" "0000201611" "00861" "00263169" "00000" "Familial, autosomal recessive" "" "delivery 40w; platelet count (x 109/L) lowest 26 , highest 133; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "no neonatal problems" "" "" "" "" "" "" "" "" "0000201612" "00861" "00263170" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 2750g; platelet count (x 109/L) lowest 10 , highest 110; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal petechiae" "" "" "" "" "" "" "" "" "0000201613" "00861" "00263171" "00000" "Familial, autosomal recessive" "" "delivery 40w; platelet count (x 109/L) lowest 20 , highest 53; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "no neonatal problems" "" "" "" "" "" "" "" "" "0000201614" "00861" "00263172" "00000" "Familial, autosomal recessive" "" "delivery 40w; platelet count (x 109/L) lowest 10 , highest 40; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance" "" "" "no neonatal problems" "" "" "" "" "" "" "" "" "0000201615" "00861" "00263175" "00000" "Familial, autosomal recessive" "" "delivery 41w, birth weight 3110g; platelet count (x 109/L) lowest 13 , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance" "" "" "neonatal petechiae" "" "" "" "" "" "" "" "" "0000201616" "00861" "00263177" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201617" "00861" "00263178" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201618" "00861" "00263262" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 3450g; platelet count (x 109/L) lowest 30 , highest 233; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201619" "00861" "00263263" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest 163; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201620" "00861" "00263264" "00000" "Familial, autosomal recessive" "" "birth weight 2610g; platelet count (x 109/L) lowest 10 , highest 28; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "no neonatal problems" "" "" "" "" "" "" "" "" "0000201621" "00861" "00263267" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest 79 , highest 142; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201622" "00861" "00263269" "00000" "Familial, autosomal recessive" "" "delivery 37w, birth weight 2800g; platelet count (x 109/L) lowest ? , highest 167; upper limb radii absent or hypoplasticnocardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201623" "00861" "00263188" "00000" "Familial, autosomal recessive" "" "birth weight 2720g; platelet count (x 109/L) lowest ? , highest 34; upper limb radii absent or hypoplastic; no lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201624" "00861" "00263271" "00000" "Familial, autosomal recessive" "" "delivery 39w, birth weight 2900g; platelet count (x 109/L) lowest 18 , highest 180; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201625" "00861" "00263191" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 2910g; platelet count (x 109/L) lowest 7 , highest 295; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance" "" "" "no neonatal problems" "" "" "" "" "" "" "" "" "0000201626" "00861" "00263272" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest 31 , highest 91; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201627" "00861" "00263192" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201628" "00861" "00263273" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 3062g; platelet count (x 109/L) lowest 12 , highest 91; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal bleeding" "" "" "" "" "" "" "" "" "0000201629" "00861" "00263194" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201630" "00861" "00263195" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance" "" "" "neonatal bruising" "" "" "" "" "" "" "" "" "0000201631" "00861" "00263274" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201632" "00861" "00263275" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201633" "00861" "00263198" "00000" "Familial, autosomal recessive" "" "delivery 42w, birth weight 3459g; platelet count (x 109/L) lowest 20 , highest 55; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance?" "" "" "neonatal bleeding" "" "" "" "" "" "" "" "" "0000201634" "00861" "00263277" "00000" "Familial, autosomal recessive" "" "delivery 40w; platelet count (x 109/L) lowest ? , highest 78; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal bleeding" "" "" "" "" "" "" "" "" "0000201635" "00861" "00263280" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest 112 , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "" "" "" "" "" "" "" "" "" "0000201636" "00861" "00263281" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 3175g; platelet count (x 109/L) lowest 11 , highest 78; upper limb radii absent or hypoplasticnono cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal tube fed" "" "" "" "" "" "" "" "" "0000201637" "00861" "00263282" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 2900g; platelet count (x 109/L) lowest 101 , highest 142; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201638" "00861" "00263283" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest 12 , highest 59; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201639" "00861" "00263284" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest 20; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201640" "00861" "00263285" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 2900g; platelet count (x 109/L) lowest 8 , highest 120; Absence of radius with hypoplasia of humerus and ulna; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance" "" "" "neonatal bleeding" "" "" "" "" "" "" "" "" "0000201641" "00861" "00263286" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 2750g; platelet count (x 109/L) lowest 9 , highest 58; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201642" "00861" "00263219" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest 94 , highest 155; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201643" "00861" "00263287" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest 79 , highest 169; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201644" "00861" "00263288" "00000" "Familial, autosomal recessive" "" "delivery 38w, birth weight 2600g; platelet count (x 109/L) lowest 34 , highest 154; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance?" "" "" "no neonatal problems" "" "" "" "" "" "" "" "" "0000201645" "00861" "00263289" "00000" "Familial, autosomal recessive" "" "delivery 39w, birth weight 3510g; platelet count (x 109/L) lowest 30 , highest 200; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201646" "00861" "00263290" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest 79 , highest 169; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201647" "00861" "00263291" "00000" "Familial, autosomal recessive" "" "delivery 40w, birth weight 3220g; platelet count (x 109/L) lowest 8 , highest 130; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance?" "" "" "bleeding" "" "" "" "" "" "" "" "" "0000201648" "00861" "00263225" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest 88; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201649" "00861" "00263230" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201650" "00861" "00263231" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance?" "" "" "neonatal problems unknown" "" "" "" "" "" "" "" "" "0000201651" "00861" "00263233" "00000" "Familial, autosomal recessive" "" "delivery 41w, birth weight 3544g; platelet count (x 109/L) lowest 11 , highest 178; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance" "" "" "neonatal bleeding" "" "" "" "" "" "" "" "" "0000201652" "00861" "00263294" "00000" "Familial, autosomal recessive" "" "birth weight 3232g; platelet count (x 109/L) lowest 90 , highest 140; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance" "" "" "neonatal bruising" "" "" "" "" "" "" "" "" "0000201653" "00861" "00263259" "00000" "Familial, autosomal recessive" "" "platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality; cow milk intolerance" "" "" "neonatal bleeding" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 120 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000264272" "00263166" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264273" "00263260" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264274" "00263167" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264275" "00263261" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264276" "00263168" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264277" "00263169" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264278" "00263170" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264279" "00263171" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264280" "00263172" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264281" "00263173" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264282" "00263174" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264283" "00263175" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264284" "00263176" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264285" "00263177" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264286" "00263178" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264287" "00263179" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264288" "00263262" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264289" "00263180" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264290" "00263263" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264291" "00263181" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264292" "00263264" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264293" "00263182" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264294" "00263265" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264295" "00263183" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264296" "00263266" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264297" "00263184" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264298" "00263267" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264299" "00263185" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264300" "00263268" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264301" "00263269" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264302" "00263186" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264303" "00263187" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264304" "00263188" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264305" "00263270" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264306" "00263189" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264307" "00263271" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264308" "00263190" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264309" "00263191" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264310" "00263272" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264311" "00263192" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264312" "00263273" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264313" "00263193" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264314" "00263194" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264315" "00263195" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264316" "00263274" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264317" "00263196" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264318" "00263275" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264319" "00263197" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264320" "00263276" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264321" "00263198" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264322" "00263199" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264323" "00263277" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264324" "00263200" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264325" "00263201" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000264326" "00263202" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264327" "00263203" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264328" "00263278" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264329" "00263204" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264330" "00263279" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264331" "00263205" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264332" "00263280" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264333" "00263206" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264334" "00263281" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264335" "00263207" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264336" "00263282" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264337" "00263208" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264338" "00263283" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264339" "00263209" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264340" "00263284" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264341" "00263210" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264342" "00263211" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264343" "00263285" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264344" "00263212" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264345" "00263213" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264346" "00263214" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264347" "00263286" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264348" "00263215" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264349" "00263216" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264350" "00263217" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264351" "00263218" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264352" "00263219" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264353" "00263220" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264354" "00263287" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264355" "00263221" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264356" "00263288" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264357" "00263289" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264358" "00263222" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264359" "00263290" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264360" "00263223" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264361" "00263291" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264362" "00263224" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264363" "00263225" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264364" "00263226" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264365" "00263227" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264366" "00263228" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264367" "00263229" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264368" "00263292" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264369" "00263230" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264370" "00263231" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264371" "00263232" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264372" "00263233" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264373" "00263293" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264374" "00263234" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264375" "00263294" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264376" "00263235" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264377" "00263236" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264378" "00263237" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264379" "00263238" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264380" "00263239" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264381" "00263240" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "PCR;SEQ" "DNA" "" "" "0000264383" "00263242" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000264384" "00263243" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000264387" "00263246" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000264388" "00263247" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000264392" "00263251" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000264394" "00263253" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000264396" "00263255" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000264399" "00263258" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000264400" "00263259" "1" "00000" "00006" "2012-09-14 18:55:03" "" "" "SEQ" "DNA" "" "" "0000290684" "00289516" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 119 "{{screeningid}}" "{{geneid}}" "0000264272" "RBM8A" "0000264273" "RBM8A" "0000264274" "RBM8A" "0000264275" "RBM8A" "0000264276" "RBM8A" "0000264277" "RBM8A" "0000264278" "RBM8A" "0000264279" "RBM8A" "0000264280" "RBM8A" "0000264281" "RBM8A" "0000264282" "RBM8A" "0000264283" "RBM8A" "0000264284" "RBM8A" "0000264285" "RBM8A" "0000264286" "RBM8A" "0000264287" "RBM8A" "0000264288" "RBM8A" "0000264289" "RBM8A" "0000264290" "RBM8A" "0000264291" "RBM8A" "0000264292" "RBM8A" "0000264293" "RBM8A" "0000264294" "RBM8A" "0000264295" "RBM8A" "0000264296" "RBM8A" "0000264297" "RBM8A" "0000264298" "RBM8A" "0000264299" "RBM8A" "0000264300" "RBM8A" "0000264301" "RBM8A" "0000264302" "RBM8A" "0000264303" "RBM8A" "0000264304" "RBM8A" "0000264305" "RBM8A" "0000264306" "RBM8A" "0000264307" "RBM8A" "0000264308" "RBM8A" "0000264309" "RBM8A" "0000264310" "RBM8A" "0000264311" "RBM8A" "0000264312" "RBM8A" "0000264313" "RBM8A" "0000264314" "RBM8A" "0000264315" "RBM8A" "0000264316" "RBM8A" "0000264317" "RBM8A" "0000264318" "RBM8A" "0000264319" "RBM8A" "0000264320" "RBM8A" "0000264321" "RBM8A" "0000264322" "RBM8A" "0000264323" "RBM8A" "0000264324" "RBM8A" "0000264325" "RBM8A" "0000264326" "RBM8A" "0000264327" "RBM8A" "0000264328" "RBM8A" "0000264329" "RBM8A" "0000264330" "RBM8A" "0000264331" "RBM8A" "0000264332" "RBM8A" "0000264333" "RBM8A" "0000264334" "RBM8A" "0000264335" "RBM8A" "0000264336" "RBM8A" "0000264337" "RBM8A" "0000264338" "RBM8A" "0000264339" "RBM8A" "0000264340" "RBM8A" "0000264341" "RBM8A" "0000264342" "RBM8A" "0000264343" "RBM8A" "0000264344" "RBM8A" "0000264345" "RBM8A" "0000264346" "RBM8A" "0000264347" "RBM8A" "0000264348" "RBM8A" "0000264349" "RBM8A" "0000264350" "RBM8A" "0000264351" "RBM8A" "0000264352" "RBM8A" "0000264353" "RBM8A" "0000264354" "RBM8A" "0000264355" "RBM8A" "0000264356" "RBM8A" "0000264357" "RBM8A" "0000264358" "RBM8A" "0000264359" "RBM8A" "0000264360" "RBM8A" "0000264361" "RBM8A" "0000264362" "RBM8A" "0000264363" "RBM8A" "0000264364" "RBM8A" "0000264365" "RBM8A" "0000264366" "RBM8A" "0000264367" "RBM8A" "0000264368" "RBM8A" "0000264369" "RBM8A" "0000264370" "RBM8A" "0000264371" "RBM8A" "0000264372" "RBM8A" "0000264373" "RBM8A" "0000264374" "RBM8A" "0000264375" "RBM8A" "0000264376" "RBM8A" "0000264377" "RBM8A" "0000264378" "RBM8A" "0000264379" "RBM8A" "0000264380" "RBM8A" "0000264381" "RBM8A" "0000264383" "RBM8A" "0000264384" "RBM8A" "0000264387" "RBM8A" "0000264388" "RBM8A" "0000264392" "RBM8A" "0000264394" "RBM8A" "0000264396" "RBM8A" "0000264399" "RBM8A" "0000264400" "RBM8A" ## 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 = 197 "{{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}}" "0000320949" "0" "50" "1" "145516416" "145516416" "subst" "0" "01804" "PEX11B_000002" "g.145516416C>T" "" "" "" "PEX11B(NM_001184795.1):c.-228C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145918673G>A" "" "VUS" "" "0000320950" "0" "50" "1" "145518169" "145518169" "subst" "0" "01804" "PEX11B_000003" "g.145518169C>G" "" "" "" "PEX11B(NM_001184795.1):c.229C>G (p.(Leu77Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145916920G>C" "" "VUS" "" "0000337228" "0" "70" "1" "145507646" "145507646" "subst" "0.0183005" "02327" "RBM8A_000002" "g.145507646G>A" "" "" "" "RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000344668" "0" "90" "1" "145517280" "145517280" "subst" "0" "02327" "PEX11B_000004" "g.145517280C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.145917809G>A" "" "pathogenic" "" "0000502983" "0" "90" "1" "145507646" "145507646" "subst" "0.0183005" "02325" "RBM8A_000002" "g.145507646G>A" "" "" "" "RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000502986" "0" "30" "1" "145517353" "145517353" "subst" "1.21819E-5" "01943" "PEX11B_000006" "g.145517353G>A" "" "" "" "PEX11B(NM_003846.2):c.137G>A (p.R46Q), PEX11B(NM_003846.3):c.137G>A (p.(Arg46Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145917736C>T" "" "likely benign" "" "0000502987" "0" "30" "1" "145518136" "145518136" "subst" "0.000129939" "01943" "PEX11B_000007" "g.145518136G>A" "" "" "" "PEX11B(NM_003846.2):c.238G>A (p.V80I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.145916953C>T" "" "likely benign" "" "0000594780" "2" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity; 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normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594842" "21" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594843" "2" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity; normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594844" "21" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594845" "3" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594846" "21" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594847" "2" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity; normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594848" "2" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594849" "3" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594850" "2" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity; normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594851" "21" "70" "1" "145507646" "145507646" "subst" "0.0183005" "00000" "RBM8A_000002" "g.145507646G>A" "" "{PMID:Albers 2012:22366785}" "" "" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594852" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594853" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594854" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594855" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594856" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594857" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594858" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594859" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594860" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594861" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594862" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594863" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594864" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594865" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594866" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594867" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594868" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594869" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594870" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594871" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594872" "20" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "de novo in patient (maternal allele)" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594873" "20" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "de novo in patient (maternal allele)" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594874" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594875" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594876" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594877" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594878" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594879" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594880" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594881" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594882" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594883" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594884" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594885" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594886" "20" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "allele not maternal" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594887" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594888" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594889" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594890" "20" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "de novo in patient, maternal allele" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594891" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594892" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594893" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594894" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594895" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594896" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594897" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594898" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594899" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594900" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594901" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594902" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594903" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594904" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594905" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594906" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594907" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594908" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594909" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594910" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "allele not paternal" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594911" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594912" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594913" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594914" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; de novo on maternal allele" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594915" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; de novo on maternal allele" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594916" "21" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594917" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594918" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594919" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594920" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594921" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594922" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594923" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594924" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594925" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594926" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594927" "11" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594928" "1" "90" "1" "145507557" "145513536" "del" "0" "00000" "RBM8A_000001" "g.(?_145507557)_(145513536_?)del" "" "{PMID:Albers 2012:22366785}" "" "1q21 deletion, heterozygous" "not in 5919 controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594929" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594930" "11" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594931" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity; normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594932" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594933" "10" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594934" "11" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594935" "11" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594936" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity; normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594937" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594938" "11" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594939" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity; normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594940" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594941" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594942" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity; normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594943" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594944" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594945" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594946" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594947" "0" "50" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "" "" "" "" "Germline" "" "rs201779890" "0" "" "" "" "" "VUS" "" "0000594948" "1" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "62/7458 controls" "{PMID:Albers 2012:22366785}" "" "chr1.hg19:g.145,507,765G>C" "0/7458 homozygous controls" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594949" "11" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594950" "2" "70" "1" "145507765" "145507765" "subst" "0.00556162" "00000" "RBM8A_000003" "g.145507765G>C" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "reduced promoter activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000594951" "1" "90" "1" "145508476" "145508477" "ins" "0" "00000" "RBM8A_000005" "g.145508476_145508477insAGCG" "" "{PMID:Albers 2012:22366785}" "" "frameshift insertion 145508476 T/TAGCG" "not in 1748 control chromosomes" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594952" "2" "90" "1" "145508476" "145508477" "ins" "0" "00000" "RBM8A_000004" "g.145508476_145508477insAGCG" "" "{PMID:Albers 2012:22366785}" "" "frameshift insertion 145508476 T/TAGCG" "not in 1748 control chromosomes; normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000594953" "1" "90" "1" "145509173" "145509173" "subst" "0" "00000" "RBM8A_000004" "g.145509173C>T" "" "{PMID:Albers 2012:22366785}" "" "145509173 C/T" "not in 1748 control chromosomes" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000647373" "1" "90" "1" "145507646" "145507646" "subst" "0.0183005" "03575" "RBM8A_000002" "g.145507646G>A" "34/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous, no homozygous; {DB:CLININrs139428292}" "Germline" "" "rs139428292" "0" "" "" "g.145927447G>A" "" "pathogenic" "" "0000653641" "0" "90" "1" "145507646" "145507646" "subst" "0.0183005" "01943" "RBM8A_000002" "g.145507646G>A" "" "" "" "RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000653642" "0" "70" "1" "145507765" "145507765" "subst" "0.00556162" "02325" "RBM8A_000003" "g.145507765G>C" "" "" "" "RBM8A(NM_005105.4):c.67+32G>C, RBM8A(NM_005105.5):c.67+32G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000653643" "0" "90" "1" "145509010" "145509016" "dup" "0" "02325" "RBM8A_000006" "g.145509010_145509016dup" "" "" "" "RBM8A(NM_005105.4):c.437_443dupTTGACTG (p.W148Cfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000653644" "0" "50" "1" "145509197" "145509197" "subst" "1.22316E-5" "02325" "RBM8A_000007" "g.145509197C>T" "" "" "" "RBM8A(NM_005105.4):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687855" "0" "30" "1" "145510376" "145510376" "subst" "0" "01943" "RBM8A_000008" "g.145510376A>G" "" "" "" "RBM8A(NM_005105.4):c.*1165A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716768" "0" "70" "1" "145507765" "145507765" "subst" "0.00556162" "02327" "RBM8A_000003" "g.145507765G>C" "" "" "" "RBM8A(NM_005105.4):c.67+32G>C, RBM8A(NM_005105.5):c.67+32G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856945" "0" "70" "1" "145507648" "145507648" "subst" "2.1408E-5" "02327" "RBM8A_000009" "g.145507648G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856946" "0" "70" "1" "145508462" "145508462" "subst" "0" "02327" "RBM8A_000010" "g.145508462C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856947" "0" "70" "1" "145509217" "145509217" "subst" "0.0140151" "02327" "RBM8A_000011" "g.145509217C>G" "" "" "" "RBM8A(NM_005105.4):c.*6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000922938" "0" "90" "1" "145507646" "145507646" "subst" "0.0183005" "02326" "RBM8A_000002" "g.145507646G>A" "" "" "" "RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922939" "0" "90" "1" "145509217" "145509217" "subst" "0.0140151" "02326" "RBM8A_000011" "g.145509217C>G" "" "" "" "RBM8A(NM_005105.4):c.*6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973281" "0" "50" "1" "145517353" "145517353" "subst" "1.21819E-5" "01804" "PEX11B_000006" "g.145517353G>A" "" "" "" "PEX11B(NM_003846.2):c.137G>A (p.R46Q), PEX11B(NM_003846.3):c.137G>A (p.(Arg46Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013206" "0" "70" "1" "145509217" "145509217" "subst" "0.0140151" "02325" "RBM8A_000011" "g.145509217C>G" "" "" "" "RBM8A(NM_005105.4):c.*6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031216" "0" "70" "1" "145507646" "145507646" "subst" "0.0183005" "01804" "RBM8A_000002" "g.145507646G>A" "" "" "" "RBM8A(NM_005105.4):c.-21G>A, RBM8A(NM_005105.5):c.-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031217" "0" "90" "1" "145507765" "145507765" "subst" "0.00556162" "01804" "RBM8A_000003" "g.145507765G>C" "" "" "" "RBM8A(NM_005105.4):c.67+32G>C, RBM8A(NM_005105.5):c.67+32G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 RBM8A ## Count = 197 "{{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}}" "0000320949" "00017505" "50" "7730" "0" "7730" "0" "c.*7205C>T" "r.(=)" "p.(=)" "" "0000320950" "00017505" "50" "9483" "0" "9483" "0" "c.*8958C>G" "r.(=)" "p.(=)" "" "0000337228" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.(?)" "p.(=)" "" "0000344668" "00017505" "90" "8594" "0" "8594" "0" "c.*8069C>T" "r.(=)" "p.(=)" "" "0000502983" "00017505" "90" "-21" "0" "-21" "0" "c.-21G>A" "r.(?)" "p.(=)" "" "0000502986" "00017505" "30" "8667" "0" "8667" "0" "c.*8142G>A" "r.(=)" "p.(=)" "" "0000502987" "00017505" "30" "9450" "0" "9450" "0" "c.*8925G>A" "r.(=)" "p.(=)" "" "0000594780" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594781" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594782" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594783" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594784" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594785" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594786" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594787" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594788" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594789" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594790" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594791" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594792" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594793" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594794" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594795" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594796" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594797" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594798" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594799" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594800" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594801" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594802" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594803" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594804" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594805" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594806" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594807" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594808" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594809" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594810" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594811" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594812" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594813" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594814" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594815" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594816" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594817" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594818" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594819" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594820" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594821" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594822" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594823" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594824" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594825" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594826" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594827" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594828" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594829" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594830" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594831" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594832" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.-" "p.-" "1" "0000594833" "00017505" "50" "-21" "0" "-21" "0" "c.-21G>A" "r.(?)" "p.(=)" "1" "0000594834" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.(?)" "p.(=)" "1" "0000594835" "00017505" "70" "-21" "0" "-21" "0" "c.-21G>A" "r.(?)" 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"p.(=)" "" "0001031217" "00017505" "90" "67" "32" "67" "32" "c.67+32G>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 175 "{{screeningid}}" "{{variantid}}" "0000264272" "0000594780" "0000264273" "0000594781" "0000264273" "0000594852" "0000264274" "0000594782" "0000264275" "0000594783" "0000264275" "0000594854" "0000264276" "0000594784" "0000264276" "0000594929" "0000264277" "0000594785" "0000264277" "0000594856" "0000264278" "0000594786" "0000264278" "0000594857" "0000264279" "0000594787" "0000264279" "0000594858" "0000264280" "0000594788" "0000264280" "0000594859" "0000264281" "0000594789" "0000264281" "0000594860" "0000264282" "0000594790" "0000264283" "0000594791" "0000264283" "0000594951" "0000264284" "0000594792" "0000264285" "0000594793" "0000264285" "0000594861" "0000264286" "0000594794" "0000264286" "0000594862" "0000264287" "0000594795" "0000264288" "0000594796" "0000264288" "0000594866" "0000264289" "0000594797" "0000264290" "0000594798" "0000264290" "0000594868" "0000264291" "0000594799" "0000264292" "0000594800" "0000264292" "0000594870" "0000264293" "0000594801" "0000264294" "0000594802" "0000264294" "0000594872" "0000264295" "0000594803" "0000264296" "0000594804" "0000264296" "0000594873" "0000264297" "0000594805" "0000264298" "0000594806" "0000264298" "0000594875" "0000264299" "0000594807" "0000264300" "0000594808" "0000264300" "0000594886" "0000264301" "0000594809" "0000264301" "0000594887" "0000264302" "0000594810" "0000264303" "0000594811" "0000264304" "0000594812" "0000264304" "0000594888" "0000264305" "0000594813" "0000264305" "0000594890" "0000264306" "0000594814" "0000264307" "0000594815" "0000264307" "0000594891" "0000264308" "0000594816" "0000264309" "0000594817" "0000264309" "0000594893" "0000264310" "0000594818" "0000264310" "0000594894" "0000264311" "0000594819" "0000264311" "0000594896" "0000264312" "0000594820" "0000264312" "0000594898" "0000264313" "0000594821" "0000264314" "0000594822" "0000264314" "0000594902" "0000264315" "0000594823" "0000264315" "0000594904" "0000264316" "0000594824" "0000264316" "0000594905" "0000264317" "0000594825" "0000264318" "0000594826" "0000264318" "0000594908" "0000264319" "0000594827" "0000264320" "0000594828" "0000264320" "0000594910" "0000264321" "0000594829" "0000264321" "0000594911" "0000264322" "0000594830" "0000264323" "0000594831" "0000264323" "0000594912" "0000264324" "0000594832" "0000264325" "0000594833" "0000264325" "0000594947" "0000264326" "0000594834" "0000264327" "0000594835" "0000264328" "0000594836" "0000264328" "0000594914" "0000264329" "0000594837" "0000264330" "0000594838" "0000264330" "0000594915" "0000264331" "0000594839" "0000264332" "0000594840" "0000264332" "0000594918" "0000264333" "0000594841" "0000264334" "0000594842" "0000264334" "0000594920" "0000264335" "0000594843" "0000264336" "0000594844" "0000264336" "0000594922" "0000264337" "0000594845" "0000264338" "0000594846" "0000264338" "0000594924" "0000264339" "0000594847" "0000264340" "0000594848" "0000264340" "0000594926" "0000264341" "0000594849" "0000264342" "0000594850" "0000264343" "0000594851" "0000264343" "0000594927" "0000264344" "0000594853" "0000264345" "0000594855" "0000264346" "0000594863" "0000264347" "0000594864" "0000264347" "0000594930" "0000264348" "0000594865" "0000264349" "0000594867" "0000264350" "0000594869" "0000264351" "0000594871" "0000264352" "0000594874" "0000264352" "0000594932" "0000264353" "0000594876" "0000264354" "0000594877" "0000264354" "0000594933" "0000264355" "0000594878" "0000264356" "0000594879" "0000264356" "0000594934" "0000264357" "0000594880" "0000264357" "0000594935" "0000264358" "0000594881" "0000264359" "0000594882" "0000264359" "0000594937" "0000264360" "0000594883" "0000264361" "0000594884" "0000264361" "0000594938" "0000264362" "0000594885" "0000264363" "0000594889" "0000264363" "0000594940" "0000264364" "0000594892" "0000264365" "0000594895" "0000264366" "0000594897" "0000264366" "0000594941" "0000264367" "0000594899" "0000264368" "0000594900" "0000264369" "0000594901" "0000264370" "0000594903" "0000264370" "0000594943" "0000264371" "0000594906" "0000264372" "0000594907" "0000264372" "0000594944" "0000264373" "0000594909" "0000264374" "0000594913" "0000264375" "0000594916" "0000264375" "0000594949" "0000264376" "0000594917" "0000264377" "0000594919" "0000264378" "0000594921" "0000264379" "0000594923" "0000264380" "0000594925" "0000264381" "0000594928" "0000264383" "0000594952" "0000264384" "0000594931" "0000264387" "0000594936" "0000264388" "0000594939" "0000264392" "0000594942" "0000264394" "0000594945" "0000264396" "0000594948" "0000264399" "0000594950" "0000264400" "0000594946" "0000264400" "0000594953" "0000290684" "0000647373"