### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POLR3B) # 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}}" "POLR3B" "polymerase (RNA) III (DNA directed) polypeptide B" "12" "q24" "unknown" "NG_031837.1" "UD_132274310158" "" "https://www.LOVD.nl/POLR3B" "" "1" "30348" "55703" "614366" "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/POLR3B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-12-01 00:00:00" "00006" "2021-01-16 13:04:31" "00006" "2025-11-13 13:04:16" ## 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}}" "00016517" "POLR3B" "transcript variant 1" "001" "NM_018082.5" "" "NP_060552.4" "" "" "" "-222" "4051" "3402" "106751436" "106903976" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "03621" "HLD8" "leukodystrophy, hypomyelinating, type 8, with/without oligodontia and/or hypogonadotropic hypogonadism (HLD8)" "AR" "614381" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-15 19:29:15" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05420" "KS" "Kallmann syndrome" "" "" "" "" "" "01796" "2018-04-12 03:54:33" "" "" "05523" "HLD" "leukodystrophy, hypomyelinating (HLD)" "" "" "" "" "" "00006" "2018-11-23 23:15:35" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07037" "CMT1I" "Charcot-Marie-Tooth disease, demyelinating, type 1I" "AD" "619742" "" "" "" "00006" "2023-10-24 16:47:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "POLR3B" "00139" "POLR3B" "03621" "POLR3B" "05523" "POLR3B" "07037" ## Individuals ## Do not remove or alter this header ## ## Count = 170 "{{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}}" "00117896" "" "" "" "1" "" "00002" "{PMID:Tétreault 2001:22036172}" "" "" "" "United States" "" "0" "" "" "European" "" "00117897" "" "" "" "1" "" "00002" "{PMID:Tétreault 2001:22036172}" "" "" "" "United States" "" "0" "" "" "European" "" "00117898" "" "" "" "1" "" "00002" "{PMID:Tétreault 2001:22036172}" "" "" "" "Italy" "" "0" "" "" "" "" "00117899" "" "" "" "1" "" "00002" "{PMID:Saitsu 2011:22036171}" "" "F" "" "" "" "0" "" "" "" "" "00117900" "" "" "" "1" "" "00002" "{PMID:Saitsu 2011:22036171}" "" "M" "" "" "" "0" "" "" "" "" "00117901" "" "" "" "1" "" "00002" "{PMID:Saitsu 2011:22036171}" "" "F" "" "" "" "0" "" "" "" "" "00208786" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00290587" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290588" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290589" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295548" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00307147" "" "" "" "1" "" "00006" "{PMID:Krygier 2019:30548255}" "" "F" "" "Poland" "" "0" "" "" "" "Pat3" "00326819" "" "" "" "1" "" "00006" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "F" "" "India" "" "0" "" "" "East" "Pat1" "00326820" "" "" "" "1" "" "00006" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat2" "00326821" "" "" "" "1" "" "00006" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "M" "" "" "" "0" "" "" "Europe-North" "Pat3" "00326822" "" "" "" "1" "" "00006" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "M" "" "France;Ireland" "" "0" "" "" "" "Pat4" "00326823" "" "" "" "1" "" "00006" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "F" "" "" "" "0" "" "" "Europe-West" "Pat5" "00326824" "" "" "" "1" "" "00006" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "F" "" "Italy;Scotland;England" "" "0" "" "" "" "Pat6" "00326826" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "African-American" "4H-37" "00326827" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "Syria" "" "0" "" "" "" "4H-58" "00326828" "" "" "" "1" "" "00006" "{PMID:Daoud 2013:23355746}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-25" "00326835" "" "" "" "1" "" "00006" "{PMID:Daoud 2013:23355746}" "" "" "no" "" "" "0" "" "" "white" "4H-23" "00326838" "" "" "" "1" "" "00006" "{PMID:Daoud 2013:23355746}" "" "" "no" "" "" "0" "" "" "white" "4H-27" "00326839" "" "" "" "1" "" "00006" "{PMID:Daoud 2013:23355746}" "" "" "no" "" "" "0" "" "" "Europe-North" "4H-26" "00326841" "" "" "" "1" "" "00006" "{PMID:Daoud 2013:23355746}" "" "" "no" "" "" "0" "" "" "Europe-North" "4H-29" "00326842" "" "" "" "1" "" "00006" "{PMID:Daoud 2013:23355746}" "" "" "no" "" "" "0" "" "" "white" "4H-28" "00326844" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-North" "4H-72" "00326847" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Hispanic" "4H-34" "00326848" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-F39" "00326850" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-East" "4H-101" "00326851" "" "" "" "1" "" "00006" "{PMID:Daoud 2013:23355746}" "" "" "no" "" "" "0" "" "" "Europe-North" "4H-24" "00326852" "" "" "00326826" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "African-American" "4H-38" "00326853" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-40" "00326854" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "yes" "" "" "0" "" "" "white" "4H-44" "00326858" "" "" "00326854" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "yes" "" "" "0" "" "" "white" "4H-45" "00326859" "" "" "" "1" "" "00006" "{PMID:Wolf 2007:17712733}" "" "" "no" "" "" "0" "" "" "white" "4H-54" "00326860" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-West" "4H-47" "00326861" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "Europe-West" "4H-55" "00326862" "" "" "" "1" "" "00006" "{PMID:Wolf 2007:17712733}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-49" "00326863" "" "" "" "1" "" "00006" "{PMID:Wolf 2005:15851747}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-50" "00326864" "" "" "" "1" "" "00006" "{PMID:Wolf 2005:15851747}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-51" "00326865" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-52" "00326866" "" "" "" "1" "" "00006" "{PMID:Wolf 2005:15851747}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-53" "00326867" "" "" "" "1" "" "00006" "{PMID:Wolf 2007:17712733}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-59" "00326868" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-60" "00326869" "" "" "00326861" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-West" "4H-56" "00326870" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-West" "4H-57" "00326871" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-West" "4H-62" "00326873" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-68" "00326874" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-61" "00326875" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-63" "00326876" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-West" "4H-69" "00326877" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "white" "4H-64" "00326878" "" "" "00326877" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-65" "00326879" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-76" "00326881" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "Mediterranean" "4H-73" "00326882" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-70" "00326883" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-West" "4H-84" "00326884" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-71" "00326886" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-North" "4H-98" "00326887" "" "" "00326881" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Mediterranean" "4H-74" "00326891" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "yes" "" "" "0" "" "" "Mediterranean" "4H-87" "00326894" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-81" "00326895" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-82" "00326896" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-83" "00326897" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "white" "4H-104" "00326900" "" "" "" "1" "" "00006" "{PMID:Ozgen 2005:15672385}" "" "" "no" "" "" "0" "" "" "Europe-West" "4H-93" "00326901" "" "" "00326891" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "yes" "" "" "0" "" "" "Mediterranean" "4H-88" "00326904" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-95" "00326907" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-West" "4H-94" "00326908" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-96" "00326909" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-102" "00326911" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-North" "4H-99" "00326913" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-Central" "4H-103" "00326914" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe" "4H-78" "00326915" "" "" "00326897" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-105" "00326916" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-East" "4H-35" "00326917" "" "" "" "3" "" "00006" "{PMID:Najmabadi 2011:21937992}" "family, 3 affected" "" "yes" "Iran" "" "0" "" "" "" "8401214" "00326918" "" "" "" "1" "" "00006" "{PMID:Richards 2017:27512013}" "" "M" "" "United States" "" "0" "" "" "" "Pat1" "00326919" "" "" "" "1" "" "00006" "{PMID:Richards 2017:27512013}" "" "F" "" "" "" "0" "" "" "white, Europe" "Pat2" "00326920" "" "" "" "2" "" "00006" "{PMID:Richards 2017:27512013}" "2-generation family, affected sister brother" "F" "" "" "" "0" "" "" "white" "Pat3a" "00326921" "" "" "00326920" "1" "" "00006" "{PMID:Richards 2017:27512013}" "brother" "M" "" "" "" "0" "" "" "white" "Pat3b" "00375649" "" "" "" "2" "" "00006" "{PMID:Srivastava 2014:25131622}" "family, several affected" "" "" "United States" "" "0" "" "" "" "Pat35" "00430228" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04451" "" "" "M" "" "China" "" "" "" "" "East Asia" "20D2602999" "00438820" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "F" "" "Canada" "" "0" "" "" "" "Pat17" "00438821" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "F" "" "Canada" "" "0" "" "" "" "Pat18" "00438822" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "M" "" "Canada" "" "0" "" "" "" "Pat19" "00438823" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "M" "" "Canada" "" "0" "" "" "" "Pat20" "00438824" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "M" "" "Canada" "" "0" "" "" "" "Pat21" "00438825" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "M" "" "Canada" "" "0" "" "" "" "Pat22" "00438826" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "F" "" "Canada" "" "0" "" "" "" "Pat23" "00438827" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "M" "" "Canada" "" "0" "" "" "" "Pat24" "00438828" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "M" "" "Canada" "" "0" "" "" "" "Pat25" "00438829" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "F" "" "Canada" "" "0" "" "" "" "Pat26" "00438834" "" "" "" "1" "" "00006" "{PMID:Mirchi 2023:37197783}" "" "M" "" "Canada" "" "0" "" "" "" "Pat31" "00438835" "" "" "" "1" "" "00006" "{PMID:Yazidi 2019:30838315}" "" "F" "" "Canada" "" "0" "" "" "" "Pat1" "00438836" "" "" "" "1" "" "00006" "{PMID:Yazidi 2019:30838315}" "" "F" "" "Canada" "" "0" "" "" "" "Pat2" "00438839" "" "" "" "1" "" "00006" "{PMID:Yazidi 2019:30838315}" "" "M" "" "Canada" "" "0" "" "" "" "Pat5" "00438841" "" "" "" "1" "" "00006" "{PMID:Yazidi 2019:30838315}" "" "M" "" "Canada" "" "0" "" "" "" "Pat7" "00438844" "" "" "" "1" "" "00006" "{PMID:Yazidi 2019:30838315}" "" "F" "" "Canada" "" "0" "" "" "" "Pat10" "00438846" "" "" "" "1" "" "00006" "{PMID:Yazidi 2019:30838315}" "" "M" "" "Canada" "" "0" "" "" "" "Pat12" "00438847" "" "" "" "1" "" "00006" "{PMID:Yazidi 2019:30838315}" "" "F" "" "Canada" "" "0" "" "" "" "Pat13" "00438854" "" "" "" "1" "" "00006" "{PMID:Yazidi 2019:30838315}" "" "F" "" "Canada" "" "0" "" "" "" "Pat20" "00438864" "" "" "" "1" "" "00006" "{PMID:La Piana 2016:27029625}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "FamIVPat4" "00438867" "" "" "" "1" "" "00006" "{PMID:La Piana 2016:27029625}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "FamVIPat7" "00438880" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C/W" "4H-Fam10Pat12" "00438881" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam11Pat13" "00438882" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam12Pat14" "00438891" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam19Pat23" "00438892" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-N" "4H-Fam20Pat24" "00438893" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam21Pat25" "00438894" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-N" "4H-Fam22Pat26" "00438895" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam23Pat27" "00438896" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam24Pat28" "00438897" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-N" "4H-Fam25Pat29" "00438902" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Hispanic" "4H-Fam30Pat34" "00438903" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-E" "4H-Fam31Pat35" "00438905" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "African-American" "4H-Fam33Pat37" "00438906" "" "" "" "137" "" "00006" "{PMID:Wolf 2014:25339210}" "relative" "" "no" "" "" "0" "" "" "African-American" "4H-Fam33Pat38" "00438907" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam34Pat39" "00438908" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam35Pat40" "00438912" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "yes" "" "" "0" "" "" "white" "4H-Fam39Pat44" "00438913" "" "" "00438912" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "relative" "" "yes" "" "" "0" "" "" "white" "4H-Fam39Pat45" "00438915" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-W" "4H-Fam41Pat47" "00438917" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam43Pat49" "00438918" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam44Pat50" "00438919" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam45Pat51" "00438920" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam46Pat52" "00438921" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam47Pat53" "00438922" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam48Pat54" "00438923" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "Europe-W" "4H-Fam49Pat55" "00438924" "" "" "00438923" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "relative" "" "no" "" "" "0" "" "" "Europe-W" "4H-Fam49Pat56" "00438925" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-W" "4H-Fam50Pat57" "00438926" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Syria" "4H-Fam51Pat58" "00438927" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam52Pat59" "00438928" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam53Pat60" "00438929" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam54Pat61" "00438930" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-W" "4H-Fam55Pat62" "00438931" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam56Pat63" "00438932" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "white" "4H-Fam57Pat64" "00438933" "" "" "00438932" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "relative" "" "no" "" "" "0" "" "" "white" "4H-Fam57Pat65" "00438936" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam60Pat68" "00438937" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-W" "4H-Fam61Pat69" "00438938" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam62Pat70" "00438939" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam63Pat71" "00438940" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-N" "4H-Fam64Pat72" "00438941" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "Mediterranean" "4H-Fam65Pat73" "00438942" "" "" "00438941" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "relative" "" "no" "" "" "0" "" "" "Mediterranean" "4H-Fam65Pat74" "00438944" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam67Pat76" "00438946" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe" "4H-Fam69Pat78" "00438949" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam71Pat81" "00438950" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam72Pat82" "00438951" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "white" "4H-Fam73Pat83" "00438952" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-W" "4H-Fam74Pat84" "00438955" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "yes" "" "" "0" "" "" "Mediterranean" "4H-Fam77Pat87" "00438956" "" "" "00438955" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "relative" "" "yes" "" "" "0" "" "" "Mediterranean" "4H-Fam77Pat88" "00438961" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-W" "4H-Fam81Pat93" "00438962" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-W" "4H-Fam82Pat94" "00438963" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam83Pat95" "00438964" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam84Pat96" "00438966" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-N" "4H-Fam86Pat98" "00438967" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-N" "4H-Fam87Pat99" "00438969" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-E" "4H-Fam89Pat101" "00438970" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam90Pat102" "00438971" "" "" "" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "" "" "no" "" "" "0" "" "" "Europe-C" "4H-Fam91Pat103" "00438972" "" "" "" "2" "" "00006" "{PMID:Wolf 2014:25339210}" "family, 2 affected" "" "no" "" "" "0" "" "" "white" "4H-Fam92Pat104" "00438973" "" "" "00438972" "1" "" "00006" "{PMID:Wolf 2014:25339210}" "relative" "" "no" "" "" "0" "" "" "white" "4H-Fam92Pat105" "00466577" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "0" "" "" "white" "" "00469243" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469244" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 169 "{{individualid}}" "{{diseaseid}}" "00117896" "00198" "00117897" "00198" "00117898" "00198" "00117899" "00198" "00117900" "00198" "00117901" "00198" "00290587" "00198" "00290588" "00198" "00290589" "00198" "00295548" "00198" "00307147" "05356" "00326819" "00198" "00326820" "00198" "00326821" "00198" "00326822" "00198" "00326823" "00198" "00326824" "00198" "00326826" "05523" "00326827" "05523" "00326828" "05523" "00326835" "05523" "00326838" "05523" "00326839" "05523" "00326841" "05523" "00326842" "05523" "00326844" "05523" "00326847" "05523" "00326848" "05523" "00326850" "05523" "00326851" "05523" "00326852" "05523" "00326853" "05523" "00326854" "05523" "00326858" "05523" "00326859" "05523" "00326860" "05523" "00326861" "05523" "00326862" "05523" "00326863" "05523" "00326864" "05523" "00326865" "05523" "00326866" "05523" "00326867" "05523" "00326868" "05523" "00326869" "05523" "00326870" "05523" "00326871" "05523" "00326873" "05523" "00326874" "05523" "00326875" "05523" "00326876" "05523" "00326877" "05523" "00326878" "05523" "00326879" "05523" "00326881" "05523" "00326882" "05523" "00326883" "05523" "00326884" "05523" "00326886" "05523" "00326887" "05523" "00326891" "05523" "00326894" "05523" "00326895" "05523" "00326896" "05523" "00326897" "05523" "00326900" "05523" "00326901" "05523" "00326904" "05523" "00326907" "05523" "00326908" "05523" "00326909" "05523" "00326911" "05523" "00326913" "05523" "00326914" "05523" "00326915" "05523" "00326916" "05523" "00326917" "00139" "00326918" "00198" "00326919" "00198" "00326920" "00198" "00326921" "00198" "00375649" "00198" "00430228" "05420" "00438820" "05523" "00438821" "05523" "00438822" "05523" "00438823" "05523" "00438824" "05523" "00438825" "05523" "00438826" "05523" "00438827" "05523" "00438828" "05523" "00438829" "05523" "00438834" "05523" "00438835" "05523" "00438836" "05523" "00438839" "05523" "00438841" "05523" "00438844" "05523" "00438846" "05523" "00438847" "05523" "00438854" "05523" "00438864" "05523" "00438867" "05523" "00438880" "05523" "00438881" "05523" "00438882" "05523" "00438891" "05523" "00438892" "05523" "00438893" "05523" "00438894" "05523" "00438895" "05523" "00438896" "05523" "00438897" "05523" "00438902" "05523" "00438903" "05523" "00438905" "05523" "00438906" "05523" "00438907" "05523" "00438908" "05523" "00438912" "05523" "00438913" "05523" "00438915" "05523" "00438917" "05523" "00438918" "05523" "00438919" "05523" "00438920" "05523" "00438921" "05523" "00438922" "05523" "00438923" "05523" "00438924" "05523" "00438925" "05523" "00438926" "05523" "00438927" "05523" "00438928" "05523" "00438929" "05523" "00438930" "05523" "00438931" "05523" "00438932" "05523" "00438933" "05523" "00438936" "05523" "00438937" "05523" "00438938" "05523" "00438939" "05523" "00438940" "05523" "00438941" "05523" "00438942" "05523" "00438944" "05523" "00438946" "05523" "00438949" "05523" "00438950" "05523" "00438951" "05523" "00438952" "05523" "00438955" "05523" "00438956" "05523" "00438961" "05523" "00438962" "05523" "00438963" "05523" "00438964" "05523" "00438966" "05523" "00438967" "05523" "00438969" "05523" "00438970" "05523" "00438971" "05523" "00438972" "05523" "00438973" "05523" "00466577" "05611" "00469243" "00198" "00469244" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03621, 05356, 05420, 05523, 05611, 07037 ## Count = 167 "{{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}}" "0000093277" "00198" "00117896" "00002" "Familial, autosomal recessive" "" "hypomyelination, hypodontia, and hypogonadotropic hypogonadism; 4H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000093278" "00198" "00117897" "00002" "Familial, autosomal recessive" "" "hypomyelination, hypodontia, and hypogonadotropic hypogonadism; 4H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000093279" "00198" "00117898" "00002" "Familial, autosomal recessive" "" "hypomyelination, hypodontia, and hypogonadotropic hypogonadism; 4H syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000093280" "00198" "00117899" "00002" "Familial, autosomal recessive" "" "Diffuse cerebral hypomyelination with cerebellar atrophy, hypoplasia of corpus callosum; HCAHC" "" "" "" "" "" "" "" "" "" "" "" "0000093281" "00198" "00117900" "00002" "Familial, autosomal recessive" "" "Diffuse cerebral hypomyelination with cerebellar atrophy, hypoplasia of corpus callosum; HCAHC" "" "" "" "" "" "" "" "" "" "" "" "0000093282" "00198" "00117901" "00002" "Familial, autosomal recessive" "" "Diffuse cerebral hypomyelination with cerebellar atrophy, hypoplasia of corpus callosum; HCAHC" "" "" "" "" "" "" "" "" "" "" "" "0000157400" "00198" "00208786" "01164" "Unknown" "" "HP:0000717 (Autism); HP:0000708 (Behavioral abnormality)" "" "" "" "" "" "" "" "" "" "" "" "0000223113" "00198" "00295548" "01164" "Unknown" "" "Encephalopathy (HP:0001298)" "" "" "" "" "" "" "" "" "" "" "" "0000232952" "05356" "00307147" "00006" "Familial, autosomal recessive" "07y" "failure to thrive, developmental delay, hypersalivation, dysphagia, mild pyramidal features, MRI brain cerebellar atrophy" "00y05m" "" "" "" "" "" "" "" "" "ataxia" "" "0000245282" "00198" "00326819" "00006" "Isolated (sporadic)" "16y" "see paper; ..., height 166 cm (50%), weight 74.3 kg (85%), OFC 51 cm (<3%); severe global developmental delay/intellectual disability, on formal testing verbal reasoning and adaptive skills <1% (ABAS-II, Leiter-R, PPVT-4); 3.5y-walk; 5y-first words, 7y-sentences, 16y-mainly uses single words and short phrases, dysarthria; ambulatory, spastic gait, ataxia, occasional dystonic posturing; needs assistance to feed, dress, bath, can print name; severe, progressive appendicular hypertonia/spasticity; deep tendon reflexes 4+ with sustained ankle clonus, +Hoffman sign; extensor plantar responses; muscle strength MRC grade 5/5 UEs, tibialis anterior and extensor hallucis longus 4/5; not able to cooperate with formal sensory exam; cerebellar testing mirror movements, intention tremor, mild dysmetria, gait ataxia, unable to perform tandem gait; no seizures; MRI brain mild cerebellar atrophy, non-specific T2 and FLAIR hyperintensities; 13y-EMG/NCS length-dependent primary axonal neuropathy with secondary demyelination, markedly decreased velocities in motor fibers of tibial and deep peroneal nerves" "" "" "" "" "" "" "" "" "" "ataxia, spasticity, demyelinating neuropathy" "" "0000245283" "00198" "00326820" "00006" "Isolated (sporadic)" "4y" "see paper; ..., height 96 cm (1%), weight 13.5 kg (1%), OFC 48 cm (5%); language DQ 51%, visual motor DQ 51%; 22m-walk; yy-first words, 2-3-word phrases, dysarthria; ambulatory, in-toeing L > R; feeds self with spoon and fork; no appendicular hypertonia/spasticity; deep tendon reflexes normal and symmetric; no extensor plantar responses; normal muscle strength; grossly normal sensory examination; cerebellar testing normal for age; 3y-seizures, head and bilateral arm drop attacks, generalized seizures; MRI brain normal; 4y-EMG/NCS normal" "" "" "" "" "" "" "" "" "" "ataxia, spasticity, demyelinating neuropathy" "" "0000245284" "00198" "00326821" "00006" "Isolated (sporadic)" "11y" "see paper; ..., height 152 cm (95%), weight 51.9 kg (95%), OFC 55 cm (85%); normal intellectual functioning; grade-level academic performance; 16m-walk; normal speech; mild gross motor delay as an infant; normal fine motor milestones; no appendicular hypertonia/spasticity; deep tendon reflexes 1+ in biceps, triceps, absent in patella and ankles bilaterally; no extensor plantar responses; prominent distal leg weakness; sensory examination decreased vibration and proprioception in distal limbs; cerebellar testing slightly wide-based gait; no seizures; MRI brain normal except for Chiari I malformation; 10y-EMG/NCS severe demyelinating sensory motor polyneuropathy, normal amplitudes, mild-moderate prolonged distal latencies, significant slowing of conduction velocities" "" "" "" "" "" "" "" "" "" "ataxia, spasticity, demyelinating neuropathy" "" "0000245285" "00198" "00326822" "00006" "Isolated (sporadic)" "22y" "see paper; ..., height 165 cm (5%), weight 95.45 kg (95%), OFC 58 cm (~98%); 21y-moderate intelletual disability FSIQ 46; 18m-walk; 13m-first word, 2y6m-put 2 words together, dysarthria; ambulatory, ataxia, falls monthly, spasticity and increasing unsteadiness; can use utensils but prefers finger feeding, does not color within lines, needs assistance with most ADLs; severe, progressive, LEs≫UEs appendicular hypertonia/spasticity; deep tendon reflexes 3+ throughout, except 1+ at the ankles; extensor plantar responses; muscle strength not tested formally but grossly normal, no asymmetry; uncooperative for detailed sensory exam, hypersensitivity feet bilaterally; cerebellar testing slow finger to nose movements, clearly ataxic gait with bilateral circumduction, unable to perform tandem gait or stance; 6m-seizures, refractory generalized epilepsy, myoclonic, rarely atonic and absence; MRI brain non-specific white matter signal abnormalities, stable over time; 12y-EMG/NCS predominantly demyelinating sensory motor neuropathy, slow motor conduction velocities, markedly decreased amplitudes in tibial nerve, absent sural responses" "" "" "" "" "" "" "" "" "" "ataxia, spasticity, demyelinating neuropathy" "" "0000245286" "00198" "00326823" "00006" "Isolated (sporadic)" "8y" "see paper; ..., height 116 cm (10%), weight 19.9 kg (20%), OFC 47 cm (~3%); mild/moderate intelletual disability, 7y-IQ £55; 2.5y-walk; language development initially normal, can use simple sentences, dysarthria; ambulatory, spastic gait; needs assistance with all activities of daily living; clearly present, progressive appendicular hypertonia/spasticity; deep tendon reflexes arms, 3+; legs, 4+ (crossed adductor reflex, sustained ankle clonus); extensor plantar responses; muscle strength not tested formally, no obvious weakness; detailed sensory exam not possible, light touch preserved; cerebellar testing mild intention tremor and dysmetria, unable to balance on one foot or perform tandem gait; 12m-seizures, head drop attacks, refractory to medications and ketogenic diet; 5y-MRI brain normal; 7y-EMG/NCS combined axonal and demyelinating polyneuropathy of both motor and sensory nerves" "" "" "" "" "" "" "" "" "" "ataxia, spasticity, demyelinating neuropathy" "" "0000245287" "00198" "00326824" "00006" "Isolated (sporadic)" "14y" "see paper; ..., height 157 cm (30%), weight 55.4 kg (63%), OFC 51 cm (<2%); severe global developmental delay/intellectual disability, reading, writing, and adaptive function at kindergarten level at age 14; 16m-walk; significant early speech delay, 3y-phrases but limited vocabulary, now short phrases, dysarthria; gross motor delay, ambulatory, spastic gait, mild ataxia; cuts own food but needs help with buttons and zippers, feeds self, needs assistance to bathe and toilet; moderate appendicular hypertonia/spasticity, all 4 limbs, LE > UE; deep tendon reflexes 3+ bilaterally; extensor plantar responses; muscle strength MRC grade 5/5 throughout; unable to cooperate with formal sensory exam; cerebellar testing no overt appendicular ataxia but mild gait ataxia and unable to perform tandem gait; no seizures; MRI brain initially delayed myelination, normalized by 14y; 6y/8y-EMG/NCS predominantly demyelinating polyneuropathy with slow conduction velocities" "" "" "" "" "" "" "" "" "" "ataxia, spasticity, demyelinating neuropathy" "" "0000245289" "05523" "00326826" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245290" "05523" "00326827" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245291" "05523" "00326828" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245298" "05523" "00326835" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245301" "05523" "00326838" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245302" "05523" "00326839" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245304" "05523" "00326841" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245305" "05523" "00326842" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245307" "05523" "00326844" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245310" "05523" "00326847" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245311" "05523" "00326848" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "4H leukodystrophy" "" "0000245313" "05523" "00326850" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245314" "05523" "00326851" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245315" "05523" "00326852" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245316" "05523" "00326853" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245317" "05523" "00326854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245321" "05523" "00326858" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245322" "05523" "00326859" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245323" "05523" "00326860" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245324" "05523" "00326861" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245325" "05523" "00326862" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245326" "05523" "00326863" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245327" "05523" "00326864" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245328" "05523" "00326865" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245329" "05523" "00326866" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245330" "05523" "00326867" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245331" "05523" "00326868" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245332" "05523" "00326869" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245333" "05523" "00326870" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245334" "05523" "00326871" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245336" "05523" "00326873" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245337" "05523" "00326874" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245338" "05523" "00326875" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245339" "05523" "00326876" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245340" "05523" "00326877" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "4H leukodystrophy" "" "0000245341" "05523" "00326878" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "4H leukodystrophy" "" "0000245342" "05523" "00326879" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245344" "05523" "00326881" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245345" "05523" "00326882" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245346" "05523" "00326883" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245347" "05523" "00326884" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245349" "05523" "00326886" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245350" "05523" "00326887" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245354" "05523" "00326891" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245357" "05523" "00326894" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245358" "05523" "00326895" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245359" "05523" "00326896" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245360" "05523" "00326897" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245363" "05523" "00326900" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245364" "05523" "00326901" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245367" "05523" "00326904" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245370" "05523" "00326907" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "4H leukodystrophy" "" "0000245371" "05523" "00326908" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245372" "05523" "00326909" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245374" "05523" "00326911" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245376" "05523" "00326913" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245377" "05523" "00326914" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245378" "05523" "00326915" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245379" "05523" "00326916" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "4H leukodystrophy" "" "0000245380" "00139" "00326917" "00006" "Unknown" "" "mild-moderate intellectual disability, coarse face, short philtrum, obesity and speech problems, coarse face, short philtrum, obesity, speech problems" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000245381" "00198" "00326918" "00006" "Familial, autosomal recessive" "" "see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; delayed puberty, delayed deepening of voice; normal size testes; horizontal nystagmus, pectus excavus" "" "20y" "normosmic idiopathic hypogonadotropic hypogonadism" "" "" "" "" "" "HLD8" "hypogonadotropic hypogonadism" "" "0000245382" "00198" "00326919" "00006" "Familial, autosomal recessive" "" "see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; normal pubertal growth spurt, stalled breast development and pubic hair growth, primary amenorrhoea; protruding ears, high arched palate, micrognathia, kidney cysts" "" "20y" "normosmic idiopathic hypogonadotropic hypogonadism" "" "" "" "" "" "HLD8" "hypogonadotropic hypogonadism" "" "0000245383" "00198" "00326920" "00006" "Familial, autosomal recessive" "" "see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; absent puberty, primary amenorrhoe" "" "18y" "normosmic idiopathic hypogonadotropic hypogonadism" "" "" "" "" "" "HLD8" "hypogonadotropic hypogonadism" "" "0000245384" "00198" "00326921" "00006" "Familial, autosomal recessive" "" "see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; absent puberty; IQ 76" "" "15y" "normosmic idiopathic hypogonadotropic hypogonadism" "" "" "" "" "" "HLD8" "hypogonadotropic hypogonadism" "" "0000270862" "00198" "00375649" "00006" "Familial, autosomal recessive" "" "developmental regression; intellectual disability/developmental delay; tremor; hyper-reflexia; MRI brain hypomyelination, cerebellar atrophy" "" "26y" "" "" "" "" "" "" "" "" "" "0000321036" "05420" "00430228" "04451" "Isolated (sporadic)" "16" "Micropenis; anosmia; testicular hypotrophy" "" "" "" "" "" "" "" "" "Kallmann syndrome" "Kallmann syndrome" "" "0000328718" "05523" "00438820" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; long palpebral fissures; flat midface; short philtrum; smooth philtrum; thin upper lip; full lower lip; short chin; broad and flat nasal bridge" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328719" "05523" "00438821" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; pinched nose; smooth philtrum; depressed nasal bridge, retrognathia" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328720" "05523" "00438822" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; pinched nose; bulbous tip of the nose; smooth philtrum; thin upper lip; short chin" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328721" "05523" "00438823" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; low-set ears; flat midface; pinched nose; deviating nasal root" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328722" "05523" "00438824" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; telecanthus; short philtrum; smooth philtrum; thin upper lip; full lower lip; pointed chin; large ears" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328723" "05523" "00438825" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; hypertelorism; long palpebral fissures; flat midface; smooth philtrum; thin upper lip; full lower lip; pointed chin; short nose" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328724" "05523" "00438826" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; telecanthus; flat midface; full lower lip; short chin; inferior epicanthus" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328725" "05523" "00438827" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; long palpebral fissures; flat midface; smooth philtrum; thin upper lip; hockey-stick palmar creases" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328726" "05523" "00438828" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; long palpebral fissures; pinched nose; smooth philtrum; thin upper lip; hockey-stick palmar creases" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328727" "05523" "00438829" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high forehead; hypertelorism; low-set ears; short philtrum; smooth philtrum; pointed chin; copped ears, low hanging columella" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328732" "05523" "00438834" "00006" "Familial, autosomal recessive" "" "hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; low-set ears; flat midface; bulbous tip of the nose; smooth philtrum; pointed chin; epicanthal fold" "" "" "" "" "" "" "" "" "HLD7" "hypomyelinating leukodystrophy" "" "0000328733" "05523" "00438835" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328734" "05523" "00438836" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328737" "05523" "00438839" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328739" "05523" "00438841" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328742" "05523" "00438844" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328744" "05523" "00438846" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328745" "05523" "00438847" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328752" "05523" "00438854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328762" "05523" "00438864" "00006" "Familial, autosomal recessive" "" "see paper; ..., ataxia or other cerebellar signs, myopia, developmental delay; MRI brain cerebellar atrophy" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328765" "05523" "00438867" "00006" "Familial, autosomal recessive" "" "see paper; ..., ataxia or other cerebellar signs, myopia, developmental delay, short stature; MRI brain cerebellar atrophy" "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328778" "05523" "00438880" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328779" "05523" "00438881" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328780" "05523" "00438882" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328789" "05523" "00438891" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328790" "05523" "00438892" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328791" "05523" "00438893" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328792" "05523" "00438894" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328793" "05523" "00438895" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328794" "05523" "00438896" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328795" "05523" "00438897" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328800" "05523" "00438902" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328801" "05523" "00438903" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328803" "05523" "00438905" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328804" "05523" "00438906" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328805" "05523" "00438907" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328806" "05523" "00438908" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328810" "05523" "00438912" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328811" "05523" "00438913" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328813" "05523" "00438915" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328815" "05523" "00438917" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328816" "05523" "00438918" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328817" "05523" "00438919" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328818" "05523" "00438920" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328819" "05523" "00438921" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328820" "05523" "00438922" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328821" "05523" "00438923" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328822" "05523" "00438924" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328823" "05523" "00438925" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328824" "05523" "00438926" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328825" "05523" "00438927" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328826" "05523" "00438928" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328827" "05523" "00438929" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328828" "05523" "00438930" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328829" "05523" "00438931" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328830" "05523" "00438932" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328831" "05523" "00438933" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328834" "05523" "00438936" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328835" "05523" "00438937" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328836" "05523" "00438938" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328837" "05523" "00438939" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328838" "05523" "00438940" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328839" "05523" "00438941" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328840" "05523" "00438942" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328842" "05523" "00438944" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328844" "05523" "00438946" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328847" "05523" "00438949" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328848" "05523" "00438950" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328849" "05523" "00438951" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328850" "05523" "00438952" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328853" "05523" "00438955" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328854" "05523" "00438956" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328859" "05523" "00438961" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328860" "05523" "00438962" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328861" "05523" "00438963" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328862" "05523" "00438964" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328864" "05523" "00438966" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328865" "05523" "00438967" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328867" "05523" "00438969" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328868" "05523" "00438970" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328869" "05523" "00438971" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328870" "05523" "00438972" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000328871" "05523" "00438973" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HLD8" "hypomyelinating leukodystrophy" "" "0000351940" "05611" "00466577" "03544" "Isolated (sporadic)" "" "HP:0001252, HP:0000733. HP:0001212, HP:0001999, HP:0001272, HP:0002059, HP:0002342, HP:0002500, HP:0430048, HP:0012385, HP:0000164, HP:0002827" "" "" "" "" "" "" "" "" "HLD8" "complex NDD" "" "0000354396" "00198" "00469243" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354397" "00198" "00469244" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 170 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000118359" "00117896" "1" "00002" "00006" "2011-12-13 10:21:17" "" "" "SEQ" "DNA" "" "" "0000118360" "00117897" "1" "00002" "00006" "2011-12-13 10:21:17" "" "" "SEQ" "DNA" "" "" "0000118361" "00117898" "1" "00002" "00006" "2011-12-13 10:21:17" "" "" "SEQ" "DNA" "" "" "0000118362" "00117899" "1" "00002" "00006" "2011-12-01 15:36:32" "" "" "PCR; SEQ-NG-I; RT-PCR" "DNA" "" "" "0000118363" "00117900" "1" "00002" "00006" "2011-12-01 15:36:32" "" "" "SEQ-NG-I; RT-PCR" "DNA;RNA" "" "" "0000118364" "00117901" "1" "00002" "00006" "2011-12-01 15:36:32" "" "" "SEQ-NG-I; RT-PCR" "DNA;RNA" "" "" "0000209835" "00208786" "1" "01164" "01164" "2018-12-17 10:13:26" "" "" "SEQ-NG" "DNA" "" "" "0000291755" "00290587" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291756" "00290588" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291757" "00290589" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296718" "00295548" "1" "01164" "01164" "2020-03-18 10:47:37" "" "" "SEQ-NG-S" "DNA" "" "" "0000308289" "00307147" "1" "00006" "00006" "2020-08-05 09:22:52" "" "" "SEQ" "DNA" "" "" "0000328032" "00326819" "1" "00009" "00006" "2021-01-16 10:11:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328033" "00326820" "1" "00009" "00006" "2021-01-16 10:11:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328034" "00326821" "1" "00009" "00006" "2021-01-16 10:11:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328035" "00326822" "1" "00009" "00006" "2021-01-16 10:11:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328036" "00326823" "1" "00009" "00006" "2021-01-16 10:11:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328037" "00326824" "1" "00009" "00006" "2021-01-16 10:11:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328039" "00326826" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328040" "00326827" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328041" "00326828" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328048" "00326835" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328051" "00326838" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328052" "00326839" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328054" "00326841" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328055" "00326842" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328057" "00326844" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328060" "00326847" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328061" "00326848" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328063" "00326850" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328064" "00326851" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328065" "00326852" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328066" "00326853" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328067" "00326854" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328071" "00326858" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328072" "00326859" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328073" "00326860" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328074" "00326861" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328075" "00326862" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328076" "00326863" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328077" "00326864" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328078" "00326865" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328079" "00326866" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328080" "00326867" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328081" "00326868" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328082" "00326869" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328083" "00326870" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328084" "00326871" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328086" "00326873" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328087" "00326874" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328088" "00326875" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328089" "00326876" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328090" "00326877" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328091" "00326878" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328092" "00326879" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328094" "00326881" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328095" "00326882" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328096" "00326883" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328097" "00326884" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328099" "00326886" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328100" "00326887" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328104" "00326891" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328107" "00326894" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328108" "00326895" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328109" "00326896" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328110" "00326897" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328113" "00326900" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328114" "00326901" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328117" "00326904" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328120" "00326907" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328121" "00326908" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328122" "00326909" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328124" "00326911" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328126" "00326913" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328127" "00326914" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328128" "00326915" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328129" "00326916" "1" "00006" "00006" "2021-01-16 13:36:51" "" "" "SEQ" "DNA" "" "" "0000328130" "00326917" "1" "00006" "00006" "2021-01-16 13:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328131" "00326918" "1" "00006" "00006" "2021-01-16 14:15:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328132" "00326919" "1" "00006" "00006" "2021-01-16 14:15:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328133" "00326920" "1" "00006" "00006" "2021-01-16 14:15:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328134" "00326921" "1" "00006" "00006" "2021-01-16 14:15:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000376846" "00375649" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000431642" "00430228" "1" "04451" "04451" "2023-01-16 06:46:09" "" "" "SEQ-NG" "DNA" "Peripheral venous blood" "" "0000440302" "00438820" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440303" "00438821" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440304" "00438822" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440305" "00438823" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440306" "00438824" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440307" "00438825" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440308" "00438826" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440309" "00438827" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440310" "00438828" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440311" "00438829" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440316" "00438834" "1" "00006" "00006" "2023-10-24 17:26:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440317" "00438835" "1" "00006" "00006" "2023-10-24 20:59:58" "" "" "SEQ" "DNA" "" "" "0000440318" "00438836" "1" "00006" "00006" "2023-10-24 20:59:58" "" "" "SEQ" "DNA" "" "" "0000440321" "00438839" "1" "00006" "00006" "2023-10-24 20:59:58" "" "" "SEQ" "DNA" "" "" "0000440323" "00438841" "1" "00006" "00006" "2023-10-24 20:59:58" "" "" "SEQ" "DNA" "" "" "0000440326" "00438844" "1" "00006" "00006" "2023-10-24 20:59:58" "" "" "SEQ" "DNA" "" "" "0000440328" "00438846" "1" "00006" "00006" "2023-10-24 20:59:58" "" "" "SEQ" "DNA" "" "" "0000440329" "00438847" "1" "00006" "00006" "2023-10-24 20:59:58" "" "" "SEQ" "DNA" "" "" "0000440336" "00438854" "1" "00006" "00006" "2023-10-24 20:59:58" "" "" "SEQ" "DNA" "" "" "0000440346" "00438864" "1" "00006" "00006" "2023-10-25 10:31:41" "" "" "SEQ" "DNA" "" "" "0000440349" "00438867" "1" "00006" "00006" "2023-10-25 10:31:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000440362" "00438880" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440363" "00438881" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440364" "00438882" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440373" "00438891" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440374" "00438892" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440375" "00438893" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440376" "00438894" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440377" "00438895" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440378" "00438896" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440379" "00438897" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440384" "00438902" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440385" "00438903" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440387" "00438905" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440388" "00438906" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440389" "00438907" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440390" "00438908" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440394" "00438912" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440395" "00438913" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440397" "00438915" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440399" "00438917" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440400" "00438918" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440401" "00438919" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440402" "00438920" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440403" "00438921" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440404" "00438922" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440405" "00438923" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440406" "00438924" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440407" "00438925" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440408" "00438926" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440409" "00438927" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440410" "00438928" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440411" "00438929" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440412" "00438930" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440413" "00438931" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440414" "00438932" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440415" "00438933" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440418" "00438936" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440419" "00438937" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440420" "00438938" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440421" "00438939" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440422" "00438940" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440423" "00438941" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440424" "00438942" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440426" "00438944" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440428" "00438946" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440431" "00438949" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440432" "00438950" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440433" "00438951" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440434" "00438952" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440437" "00438955" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440438" "00438956" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440443" "00438961" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440444" "00438962" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440445" "00438963" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440446" "00438964" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440448" "00438966" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440449" "00438967" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440451" "00438969" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440452" "00438970" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440453" "00438971" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440454" "00438972" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000440455" "00438973" "1" "00006" "00006" "2023-10-26 19:35:42" "" "" "SEQ" "DNA" "" "" "0000468240" "00466577" "1" "03544" "03544" "2025-09-12 06:46:32" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000470911" "00469243" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470912" "00469244" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 85 "{{screeningid}}" "{{geneid}}" "0000118359" "POLR3B" "0000118360" "POLR3B" "0000118361" "POLR3B" "0000118362" "POLR3B" "0000118363" "POLR3B" "0000118364" "POLR3B" "0000308289" "POLR3B" "0000328032" "POLR3B" "0000328033" "POLR3B" "0000328034" "POLR3B" "0000328035" "POLR3B" "0000328036" "POLR3B" "0000328037" "POLR3B" "0000328039" "POLR3B" "0000328040" "POLR3B" "0000328041" "POLR3B" "0000328048" "POLR3B" "0000328051" "POLR3B" "0000328052" "POLR3B" "0000328054" "POLR3B" "0000328055" "POLR3B" "0000328057" "POLR3B" "0000328060" "POLR3B" "0000328061" "POLR3B" "0000328063" "POLR3B" "0000328064" "POLR3B" "0000328065" "POLR3B" "0000328066" "POLR3B" "0000328067" "POLR3B" "0000328071" "POLR3B" "0000328072" "POLR3B" "0000328073" "POLR3B" "0000328074" "POLR3B" "0000328075" "POLR3B" "0000328076" "POLR3B" "0000328077" "POLR3B" "0000328078" "POLR3B" "0000328079" "POLR3B" "0000328080" "POLR3B" "0000328081" "POLR3B" "0000328082" "POLR3B" "0000328083" "POLR3B" "0000328084" "POLR3B" "0000328086" "POLR3B" "0000328087" "POLR3B" "0000328088" "POLR3B" "0000328089" "POLR3B" "0000328090" "POLR3B" "0000328091" "POLR3B" "0000328092" "POLR3B" "0000328094" "POLR3B" "0000328095" "POLR3B" "0000328096" "POLR3B" "0000328097" "POLR3B" "0000328099" "POLR3B" "0000328100" "POLR3B" "0000328104" "POLR3B" "0000328107" "POLR3B" "0000328108" "POLR3B" "0000328109" "POLR3B" "0000328110" "POLR3B" "0000328113" "POLR3B" "0000328114" "POLR3B" "0000328117" "POLR3B" "0000328120" "POLR3B" "0000328121" "POLR3B" "0000328122" "POLR3B" "0000328124" "POLR3B" "0000328126" "POLR3B" "0000328127" "POLR3B" "0000328128" "POLR3B" "0000328129" "POLR3B" "0000328131" "POLR3B" "0000328132" "POLR3B" "0000328133" "POLR3B" "0000328134" "POLR3B" "0000431642" "POLR3B" "0000440317" "POLR3B" "0000440318" "POLR3B" "0000440321" "POLR3B" "0000440323" "POLR3B" "0000440326" "POLR3B" "0000440328" "POLR3B" "0000440329" "POLR3B" "0000440336" "POLR3B" ## 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 = 412 "{{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}}" "0000194455" "2" "70" "12" "106826139" "106826139" "subst" "0" "00002" "POLR3B_000006" "g.106826139C>A" "" "{PMID:Tétreault 2001:22036172}" "" "" "" "Germline" "" "" "0" "" "" "g.106432361C>A" "" "likely pathogenic" "" "0000194456" "2" "70" "12" "106826164" "106826164" "del" "0" "00002" "POLR3B_000007" "g.106826164del" "" "{PMID:Tétreault 2001:22036172}" "" "1533delT; Ile511MetfsX513" "" "Germline" "" "" "0" "" "" "g.106432386del" "" "likely pathogenic" "" "0000194457" "1" "70" "12" "106826199" "106826199" "subst" "0.00028474" "00002" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Tétreault 2001:22036172}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic" "" "0000194458" "1" "70" "12" "106826199" "106826199" "subst" "0.00028474" "00002" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Tétreault 2001:22036172}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic" "" "0000194459" "1" "70" "12" "106826199" "106826199" "subst" "0.00028474" "00002" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Tétreault 2001:22036172}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic" "" "0000194460" "11" "70" "12" "106827517" "106827517" "subst" "4.07269E-6" "00002" "POLR3B_000003" "g.106827517C>T" "" "{PMID:Saitsu 2011:22036171}" "" "" "nonsense-mediated mRNA decay" "Germline" "" "" "0" "" "" "g.106433739C>T" "" "likely pathogenic" "" "0000194461" "11" "70" "12" "106831457" "106831457" "subst" "8.16827E-6" "00002" "POLR3B_000001" "g.106831457A>C" "" "{PMID:Saitsu 2011:22036171}" "" "" "" "Germline" "" "" "0" "" "" "g.106437679A>C" "" "likely pathogenic" "" "0000194462" "11" "70" "12" "106831457" "106831457" "subst" "8.16827E-6" "00002" "POLR3B_000001" "g.106831457A>C" "" "{PMID:Saitsu 2011:22036171}" "" "" "" "Germline" "" "" "0" "" "" "g.106437679A>C" "" "likely pathogenic" "" "0000194463" "21" "70" "12" "106850925" "106850925" "subst" "8.53922E-5" "00002" "POLR3B_000002" "g.106850925G>A" "" "{PMID:Saitsu 2011:22036171}" "" "" "" "Germline" "" "" "0" "" "" "g.106457147G>A" "" "likely pathogenic" "" "0000194464" "21" "70" "12" "106850925" "106850925" "subst" "8.53922E-5" "00002" "POLR3B_000002" "g.106850925G>A" "" "{PMID:Saitsu 2011:22036171}" "" "" "" "Germline" "" "" "0" "" "" "g.106457147G>A" "" "likely pathogenic" "" "0000194465" "2" "70" "12" "106857371" "106857371" "subst" "0" "00002" "POLR3B_000008" "g.106857371A>T" "" "{PMID:Tétreault 2001:22036172}" "" "" "" "Germline" "" "" "0" "" "" "g.106463593A>T" "" "likely pathogenic" "" "0000194466" "21" "70" "12" "106889897" "106889897" "subst" "0" "00002" "POLR3B_000004" "g.106889897C>G" "" "{PMID:Saitsu 2011:22036171}" "" "" "" "Germline" "" "" "0" "" "" "g.106496119C>G" "" "likely pathogenic" "" "0000250541" "0" "50" "12" "107155183" "107155183" "subst" "0" "02329" "RFX4_000001" "g.107155183A>G" "" "" "" "RFX4(NM_213594.3):c.2144A>G (p.H715R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106761405A>G" "" "VUS" "" "0000254352" "0" "30" "12" "106838243" "106838243" "subst" "0.00655644" "01943" "POLR3B_000022" "g.106838243A>T" "" "" "" "POLR3B(NM_018082.5):c.1958A>T (p.D653V, p.(Asp653Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106444465A>T" "" "likely benign" "" "0000254438" "0" "30" "12" "106827639" "106827639" "subst" "0" "01943" "POLR3B_000020" "g.106827639A>G" "" "" "" "POLR3B(NM_018082.5):c.1770A>G (p.G590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106433861A>G" "" "likely benign" "" "0000297251" "0" "10" "12" "106820972" "106820972" "dup" "0" "02325" "POLR3B_000013" "g.106820972dup" "" "" "" "POLR3B(NM_018082.6):c.1102-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106427194dup" "" "benign" "" "0000297252" "0" "10" "12" "106838340" "106838340" "subst" "0.321125" "02325" "POLR3B_000023" "g.106838340T>C" "" "" "" "POLR3B(NM_018082.6):c.2055T>C (p.Y685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106444562T>C" "" "benign" "" "0000297253" "0" "10" "12" "106903321" "106903321" "subst" "0.330641" "02325" "POLR3B_000030" "g.106903321T>C" "" "" "" "LOC100287944(NR_040246.1):n.143-1733A>G, POLR3B(NM_018082.6):c.3396T>C (p.N1132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106509543T>C" "" "benign" "" "0000299055" "0" "90" "12" "106826199" "106826199" "subst" "0.00028474" "02329" "POLR3B_000005" "g.106826199T>A" "" "" "" "POLR3B(NM_018082.5):c.1568T>A (p.V523E, p.(Val523Glu)), POLR3B(NM_018082.6):c.1568T>A (p.V523E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic" "" "0000301127" "0" "90" "12" "106826199" "106826199" "subst" "0.00028474" "02326" "POLR3B_000005" "g.106826199T>A" "" "" "" "POLR3B(NM_018082.5):c.1568T>A (p.V523E, p.(Val523Glu)), POLR3B(NM_018082.6):c.1568T>A (p.V523E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic" "" "0000306139" "0" "10" "12" "106763456" "106763456" "subst" "0.00206637" "01943" "POLR3B_000009" "g.106763456C>T" "" "" "" "POLR3B(NM_018082.5):c.399C>T (p.I133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106369678C>T" "" "benign" "" "0000323047" "0" "50" "12" "106770154" "106770154" "subst" "1.22203E-5" "01804" "POLR3B_000010" "g.106770154G>A" "" "" "" "POLR3B(NM_001160708.1):c.248G>A (p.(Arg83His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106376376G>A" "" "VUS" "" "0000323048" "0" "30" "12" "106773806" "106773806" "subst" "0.000126288" "01804" "POLR3B_000011" "g.106773806T>C" "" "" "" "POLR3B(NM_018082.6):c.615-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106380028T>C" "" "likely benign" "" "0000323049" "0" "50" "12" "106786920" "106786920" "subst" "4.06147E-6" "01804" "POLR3B_000012" "g.106786920A>T" "" "" "" "POLR3B(NM_001160708.1):c.661A>T (p.(Thr221Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106393142A>T" "" "VUS" "" "0000323050" "0" "30" "12" "106820974" "106820974" "subst" "0" "01804" "POLR3B_000014" "g.106820974G>T" "" "" "" "POLR3B(NM_001160708.1):c.928-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106427196G>T" "" "likely benign" "" "0000323051" "0" "30" "12" "106820980" "106820980" "subst" "0" "01804" "POLR3B_000016" "g.106820980A>T" "" "" "" "POLR3B(NM_001160708.1):c.933A>T (p.(Leu311Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106427202A>T" "" "likely benign" "" "0000323053" "0" "30" "12" "106820982" "106820982" "subst" "0" "01804" "POLR3B_000017" "g.106820982C>T" "" "" "" "POLR3B(NM_001160708.1):c.935C>T (p.(Ser312Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106427204C>T" "" "likely benign" "" "0000323054" "0" "30" "12" "106820984" "106820984" "subst" "0" "01804" "POLR3B_000018" "g.106820984C>T" "" "" "" "POLR3B(NM_001160708.1):c.937C>T (p.(Leu313Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106427206C>T" "" "likely benign" "" "0000323055" "0" "30" "12" "106820987" "106820987" "subst" "0" "01804" "POLR3B_000019" "g.106820987C>T" "" "" "" "POLR3B(NM_001160708.1):c.940C>T (p.(Leu314Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106427209C>T" "" "likely benign" "" "0000323058" "0" "30" "12" "106838243" "106838243" "subst" "0.00655644" "01804" "POLR3B_000022" "g.106838243A>T" "" "" "" "POLR3B(NM_018082.5):c.1958A>T (p.D653V, p.(Asp653Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106444465A>T" "" "likely benign" "" "0000323059" "0" "50" "12" "106857354" "106857354" "subst" "2.4398E-5" "01804" "POLR3B_000024" "g.106857354G>A" "" "" "" "POLR3B(NM_001160708.1):c.2495G>A (p.(Arg832His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106463576G>A" "" "VUS" "" "0000323060" "0" "90" "12" "106889928" "106889928" "subst" "1.21861E-5" "01804" "POLR3B_000026" "g.106889928C>T" "" "" "" "POLR3B(NM_018082.6):c.2809C>T (p.(Arg937*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106496150C>T" "" "pathogenic" "" "0000323062" "0" "50" "12" "106890654" "106890654" "subst" "0" "01804" "POLR3B_000028" "g.106890654A>G" "" "" "" "POLR3B(NM_001160708.1):c.2768A>G (p.(Tyr923Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106496876A>G" "" "VUS" "" "0000323063" "0" "50" "12" "106903315" "106903315" "subst" "0.00018699" "01804" "POLR3B_000029" "g.106903315G>C" "" "" "" "POLR3B(NM_001160708.1):c.3216G>C (p.(Lys1072Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106509537G>C" "" "VUS" "" "0000343782" "0" "50" "12" "106826256" "106826256" "subst" "1.2209E-5" "02327" "POLR3B_000033" "g.106826256A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106432478A>G" "" "VUS" "" "0000346257" "0" "50" "12" "106848438" "106848438" "subst" "0" "02327" "POLR3B_000035" "g.106848438G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106454660G>T" "" "VUS" "" "0000346644" "0" "50" "12" "106773901" "106773901" "subst" "4.06878E-6" "02327" "POLR3B_000031" "g.106773901T>C" "" "" "" "POLR3B(NM_018082.5):c.707T>C (p.I236T), POLR3B(NM_018082.6):c.707T>C (p.I236T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106380123T>C" "" "VUS" "" "0000347835" "0" "70" "12" "106821117" "106821117" "subst" "0.000561354" "02327" "POLR3B_000032" "g.106821117T>C" "" "" "" "POLR3B(NM_018082.5):c.1244T>C (p.M415T), POLR3B(NM_018082.6):c.1244T>C (p.(Met415Thr), p.M415T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106427339T>C" "" "likely pathogenic" "" "0000349594" "0" "50" "12" "106838273" "106838273" "subst" "9.74999E-5" "02327" "POLR3B_000034" "g.106838273C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106444495C>T" "" "VUS" "" "0000350579" "0" "70" "12" "106826199" "106826199" "subst" "0.00028474" "02327" "POLR3B_000005" "g.106826199T>A" "" "" "" "POLR3B(NM_018082.5):c.1568T>A (p.V523E, p.(Val523Glu)), POLR3B(NM_018082.6):c.1568T>A (p.V523E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic" "" "0000440055" "0" "50" "12" "106824244" "106824244" "subst" "0" "01164" "POLR3B_000036" "g.106824244A>G" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "" "0" "" "" "g.106430466A>G" "" "VUS" "ACMG" "0000546328" "0" "30" "12" "106760470" "106760470" "subst" "0" "01943" "POLR3B_000037" "g.106760470C>A" "" "" "" "POLR3B(NM_018082.5):c.197C>A (p.T66K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106366692C>A" "" "likely benign" "" "0000546329" "0" "50" "12" "106770144" "106770144" "subst" "0" "01943" "POLR3B_000038" "g.106770144A>G" "" "" "" "POLR3B(NM_018082.5):c.412A>G (p.I138V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106376366A>G" "" "VUS" "" "0000546330" "0" "50" "12" "106773901" "106773901" "subst" "4.06878E-6" "01943" "POLR3B_000031" "g.106773901T>C" "" "" "" "POLR3B(NM_018082.5):c.707T>C (p.I236T), POLR3B(NM_018082.6):c.707T>C (p.I236T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106380123T>C" "" "VUS" "" "0000546331" "0" "30" "12" "106804612" "106804612" "subst" "0.00554738" "01943" "POLR3B_000039" "g.106804612A>G" "" "" "" "POLR3B(NM_018082.5):c.975A>G (p.E325=), POLR3B(NM_018082.6):c.975A>G (p.(Glu325=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106410834A>G" "" "likely benign" "" "0000546332" "0" "30" "12" "106820973" "106820973" "subst" "0" "01804" "POLR3B_000040" "g.106820973A>T" "" "" "" "POLR3B(NM_001160708.1):c.928-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106427195A>T" "" "likely benign" "" "0000546333" "0" "30" "12" "106820973" "106820975" "del" "0" "01804" "POLR3B_000042" "g.106820973_106820975del" "" "" "" "POLR3B(NM_001160708.1):c.928-2_928del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106427195_106427197del" "" "likely benign" "" "0000546334" "0" "30" "12" "106820973" "106820973" "del" "0" "01804" "POLR3B_000041" "g.106820973del" "" "" "" "POLR3B(NM_001160708.1):c.928-2delA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106427195del" "" "likely benign" "" "0000546335" "0" "10" "12" "106820978" "106820979" "dup" "0" "01943" "POLR3B_000043" "g.106820978_106820979dup" "" "" "" "POLR3B(NM_001160708.1):c.928_929insTT (p.(Leu311PhefsTer17)), POLR3B(NM_018082.5):c.1105_1106dupTT (p.L369Ffs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106427200_106427201dup" "" "benign" "" "0000546336" "0" "30" "12" "106820978" "106820979" "dup" "0" "01804" "POLR3B_000043" "g.106820978_106820979dup" "" "" "" "POLR3B(NM_001160708.1):c.928_929insTT (p.(Leu311PhefsTer17)), POLR3B(NM_018082.5):c.1105_1106dupTT (p.L369Ffs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106427200_106427201dup" "" "likely benign" "" "0000546338" "0" "30" "12" "106820993" "106820993" "subst" "0" "01804" "POLR3B_000045" "g.106820993G>T" "" "" "" "POLR3B(NM_001160708.1):c.946G>T (p.(Glu316Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106427215G>T" "" "likely benign" "" "0000546339" "0" "30" "12" "106820993" "106820998" "del" "0" "01804" "POLR3B_000046" "g.106820993_106820998del" "" "" "" "POLR3B(NM_001160708.1):c.946_951del (p.(Glu316_Asp317del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106427215_106427220del" "" "likely benign" "" "0000546340" "0" "30" "12" "106821001" "106821001" "subst" "0" "01804" "POLR3B_000047" "g.106821001G>T" "" "" "" "POLR3B(NM_001160708.1):c.954G>T (p.(Leu318Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106427223G>T" "" "likely benign" "" "0000546342" "0" "50" "12" "106821117" "106821117" "subst" "0.000561354" "01943" "POLR3B_000032" "g.106821117T>C" "" "" "" "POLR3B(NM_018082.5):c.1244T>C (p.M415T), POLR3B(NM_018082.6):c.1244T>C (p.(Met415Thr), p.M415T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106427339T>C" "" "VUS" "" "0000546344" "0" "50" "12" "106826162" "106826162" "subst" "0" "02325" "POLR3B_000049" "g.106826162A>C" "" "" "" "POLR3B(NM_018082.6):c.1531A>C (p.I511L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106432384A>C" "" "VUS" "" "0000546345" "0" "90" "12" "106826199" "106826199" "subst" "0.00028474" "01943" "POLR3B_000005" "g.106826199T>A" "" "" "" "POLR3B(NM_018082.5):c.1568T>A (p.V523E, p.(Val523Glu)), POLR3B(NM_018082.6):c.1568T>A (p.V523E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106432421T>A" "" "pathogenic" "" "0000546346" "0" "30" "12" "106830912" "106830912" "subst" "5.7635E-5" "01943" "POLR3B_000050" "g.106830912A>C" "" "" "" "POLR3B(NM_018082.5):c.1856+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106437134A>C" "" "likely benign" "" "0000546347" "0" "30" "12" "106830919" "106830919" "subst" "8.25008E-6" "01943" "POLR3B_000051" "g.106830919C>T" "" "" "" "POLR3B(NM_018082.5):c.1856+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106437141C>T" "" "likely benign" "" "0000546349" "0" "50" "12" "106848274" "106848274" "subst" "0.000130641" "01943" "POLR3B_000053" "g.106848274A>G" "" "" "" "POLR3B(NM_018082.5):c.2084-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106454496A>G" "" "VUS" "" "0000546350" "0" "10" "12" "106848332" "106848332" "subst" "0.000912491" "01943" "POLR3B_000054" "g.106848332A>G" "" "" "" "POLR3B(NM_018082.5):c.2136A>G (p.L712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106454554A>G" "" "benign" "" "0000546351" "0" "30" "12" "106848414" "106848414" "subst" "0.0465632" "01804" "POLR3B_000055" "g.106848414A>G" "" "" "" "POLR3B(NM_018082.6):c.2218A>G (p.(Thr740Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106454636A>G" "" "likely benign" "" "0000546352" "0" "90" "12" "106848490" "106848490" "subst" "0" "02326" "POLR3B_000056" "g.106848490G>A" "" "" "" "POLR3B(NM_018082.6):c.2293+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106454712G>A" "" "pathogenic" "" "0000546353" "0" "30" "12" "106853135" "106853135" "subst" "0" "01804" "POLR3B_000057" "g.106853135T>G" "" "" "" "POLR3B(NM_001160708.1):c.2385T>G (p.(Asp795Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106459357T>G" "" "likely benign" "" "0000613821" "0" "30" "12" "106827576" "106827576" "subst" "0.000244164" "01943" "POLR3B_000060" "g.106827576T>C" "" "" "" "POLR3B(NM_018082.5):c.1707T>C (p.N569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106433798T>C" "" "likely benign" "" "0000613822" "0" "30" "12" "106831475" "106831475" "subst" "0.00125576" "01943" "POLR3B_000052" "g.106831475T>C" "" "" "" "POLR3B(NM_018082.5):c.1873T>C (p.L625=), POLR3B(NM_018082.6):c.1873T>C (p.L625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106437697T>C" "" "likely benign" "" "0000613823" "0" "50" "12" "107080877" "107080877" "subst" "0" "01943" "POLR3B_000061" "g.107080877T>C" "" "" "" "RFX4(NM_213594.2):c.591+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106687099T>C" "" "VUS" "" "0000622769" "0" "30" "12" "106763381" "106763381" "subst" "8.12288E-6" "01943" "POLR3B_000059" "g.106763381A>G" "" "" "" "POLR3B(NM_018082.5):c.324A>G (p.T108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106369603A>G" "" "likely benign" "" "0000648444" "1" "50" "12" "106751485" "106751485" "subst" "0" "03575" "POLR3B_000062" "g.106751485C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs73186443}" "Germline" "" "rs73186443" "0" "" "" "g.106357707C>T" "" "VUS" "" "0000648445" "1" "50" "12" "106838273" "106838273" "subst" "9.74999E-5" "03575" "POLR3B_000034" "g.106838273C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs755312623}" "Germline" "" "rs755312623" "0" "" "" "g.106444495C>T" "" "VUS" "" "0000648446" "1" "90" "12" "106850925" "106850925" "subst" "8.53922E-5" "03575" "POLR3B_000002" "g.106850925G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs267608687}" "Germline" "" "rs267608687" "0" "" "" "g.106457147G>A" "" "pathogenic" "" "0000653415" "0" "70" "12" "106773858" "106773858" "subst" "8.13405E-6" "01164" "POLR3B_000063" "g.106773858C>T" "" "" "" "" "ACMG: PVS1,PM2" "Germline" "" "rs767558518" "0" "" "" "g.106380080C>T" "" "likely pathogenic" "ACMG" "0000653416" "0" "50" "12" "106838284" "106838284" "subst" "1.2189E-5" "01164" "POLR3B_000064" "g.106838284G>A" "" "" "" "" "ACMG: PM2,PM3" "Germline" "" "rs756536922" "0" "" "" "g.106444506G>A" "" "VUS" "ACMG" "0000656968" "0" "30" "12" "106827645" "106827645" "subst" "0.00107111" "01943" "POLR3B_000065" "g.106827645A>T" "" "" "" "POLR3B(NM_018082.5):c.1776A>T (p.L592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106433867A>T" "" "likely benign" "" "0000675234" "1" "90" "12" "106853147" "106853147" "subst" "4.8788E-5" "00006" "POLR3B_000066" "g.106853147G>A" "" "{PMID:Krygier 2019:30548255}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000675235" "2" "70" "12" "106897944" "106897944" "subst" "8.1215E-6" "00006" "POLR3B_000067" "g.106897944A>G" "" "{PMID:Krygier 2019:30548255}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000679384" "0" "30" "12" "106903201" "106903201" "subst" "0" "01943" "POLR3B_000068" "g.106903201C>T" "" "" "" "POLR3B(NM_018082.5):c.3276C>T (p.C1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691233" "0" "30" "12" "106995127" "106995127" "subst" "0.00364057" "01804" "POLR3B_000069" "g.106995127A>G" "" "" "" "RFX4(NM_001206691.1):c.70+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691234" "0" "30" "12" "107155117" "107155117" "subst" "0.00803941" "01804" "POLR3B_000070" "g.107155117C>T" "" "" "" "RFX4(NM_001206691.1):c.2105C>T (p.(Ala702Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000711878" "0" "90" "12" "106820997" "106820997" "subst" "0" "00006" "POLR3B_000076" "g.106820997A>T" "" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "" "" "De novo" "" "" "0" "" "" "g.106427219A>T" "" "pathogenic (dominant)" "" "0000711879" "0" "90" "12" "106824064" "106824064" "subst" "0" "00006" "POLR3B_000077" "g.106824064T>C" "" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "" "" "De novo" "" "" "0" "" "" "g.106430286T>C" "" "pathogenic (dominant)" "" "0000711880" "0" "90" "12" "106897897" "106897897" "subst" "0" "00006" "POLR3B_000079" "g.106897897G>A" "" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "" "" "De novo" "" "" "0" "" "" "g.106504119G>A" "" "pathogenic (dominant)" "" "0000711881" "0" "90" "12" "106804731" "106804731" "subst" "0" "00006" "POLR3B_000075" "g.106804731C>T" "" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "" "" "De novo" "" "" "0" "" "" "g.106410953C>T" "" "pathogenic (dominant)" "" "0000711882" "0" "90" "12" "106804724" "106804724" "subst" "0" "00006" "POLR3B_000074" "g.106804724G>A" "" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "" "" "De novo" "" "" "0" "" "" "g.106410946G>A" "" "pathogenic (dominant)" "" "0000711883" "0" "90" "12" "106824172" "106824172" "subst" "0" "00006" "POLR3B_000078" "g.106824172C>G" "" "{PMID:Djordjevic 2021:33417887}, {DOI:Djordjevic 2021:10.1016/j.ajhg.2020.12.002}" "" "" "" "De novo" "" "" "0" "" "" "g.106430394C>G" "" "pathogenic (dominant)" "" "0000711886" "1" "90" "10" "106824133" "106824133" "subst" "0" "00006" "POLR3B_000016" "g.106824133T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430355T>C" "" "pathogenic (recessive)" "" "0000711887" "3" "90" "10" "106895121" "106895121" "subst" "0" "00006" "POLR3B_000075" "g.106895121T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106501343T>C" "" "pathogenic (recessive)" "" "0000711888" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Daoud 2013:23355746}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711895" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Daoud 2013:23355746}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711898" "1" "90" "10" "106824111" "106824111" "subst" "0" "00006" "POLR3B_000014" "g.106824111C>T" "" "{PMID:Daoud 2013:23355746}" "" "" "" "Germline" "" "" "0" "" "" "g.106430333C>T" "" "pathogenic (recessive)" "" "0000711899" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Daoud 2013:23355746}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711901" "1" "90" "10" "106786887" "106786887" "subst" "0" "00006" "POLR3B_000005" "g.106786887A>G" "" "{PMID:Daoud 2013:23355746}" "" "" "" "Germline" "" "" "0" "" "" "g.106393109A>G" "" "pathogenic (recessive)" "" "0000711902" "1" "90" "10" "106763369" "106763369" "subst" "0" "00006" "POLR3B_000004" "g.106763369G>T" "" "{PMID:Daoud 2013:23355746}" "" "" "" "Germline" "" "" "0" "" "" "g.106369591G>T" "" "pathogenic (recessive)" "" "0000711904" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711907" "1" "90" "10" "106824252" "106824252" "subst" "0" "00006" "POLR3B_000017" "g.106824252G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430474G>A" "" "pathogenic (recessive)" "" "0000711908" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic" "" "0000711910" "1" "90" "10" "106895187" "106895187" "subst" "0" "00006" "POLR3B_000078" "g.106895187C>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106501409C>T" "" "pathogenic (recessive)" "" "0000711911" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Daoud 2013:23355746}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711912" "1" "90" "10" "106824133" "106824133" "subst" "0" "00006" "POLR3B_000016" "g.106824133T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430355T>C" "" "pathogenic (recessive)" "" "0000711913" "1" "90" "10" "106890630" "106890630" "subst" "0" "00006" "POLR3B_000072" "g.106890630G>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106496852G>T" "" "pathogenic (recessive)" "" "0000711914" "3" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711918" "3" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711919" "1" "90" "10" "106824111" "106824111" "subst" "0" "00006" "POLR3B_000014" "g.106824111C>T" "" "{PMID:Wolf 2007:17712733}" "" "" "" "Germline" "" "" "0" "" "" "g.106430333C>T" "" "pathogenic (recessive)" "" "0000711920" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711921" "1" "90" "10" "106824112" "106824112" "subst" "0" "00006" "POLR3B_000015" "g.106824112G>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430334G>T" "" "pathogenic (recessive)" "" "0000711922" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2007:17712733}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711923" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2005:15851747}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711924" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2005:15851747}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711925" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711926" "1" "90" "10" "106804589" "106804589" "subst" "0" "00006" "POLR3B_000007" "g.106804589A>G" "" "{PMID:Wolf 2005:15851747}" "" "" "" "Germline" "" "" "0" "" "" "g.106410811A>G" "" "pathogenic (recessive)" "" "0000711927" "1" "90" "10" "106820985" "106820986" "del" "0" "00006" "POLR3B_000011" "g.106820985_106820986del" "" "{PMID:Wolf 2007:17712733}" "" "1112_1113delTT" "" "Germline" "" "" "0" "" "" "g.106427207_106427208del" "" "pathogenic (recessive)" "" "0000711928" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711929" "1" "90" "10" "106824112" "106824112" "subst" "0" "00006" "POLR3B_000015" "g.106824112G>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430334G>T" "" "pathogenic (recessive)" "" "0000711930" "1" "90" "10" "106830841" "106830841" "subst" "0" "00006" "POLR3B_000020" "g.106830841C>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106437063C>A" "" "pathogenic (recessive)" "" "0000711931" "1" "90" "10" "106786917" "106786918" "dup" "0" "00006" "POLR3B_000006" "g.106786917_106786918dup" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106393139_106393140dup" "" "pathogenic (recessive)" "" "0000711933" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711934" "1" "90" "10" "106821138" "106821138" "subst" "0" "00006" "POLR3B_000013" "g.106821138T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106427360T>C" "" "pathogenic (recessive)" "" "0000711935" "1" "90" "10" "106804655" "106804655" "subst" "0" "00006" "POLR3B_000009" "g.106804655C>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106410877C>T" "" "pathogenic (recessive)" "" "0000711936" "1" "90" "10" "106821138" "106821138" "subst" "0" "00006" "POLR3B_000013" "g.106821138T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106427360T>C" "" "pathogenic (recessive)" "" "0000711937" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic" "" "0000711938" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic" "" "0000711939" "1" "90" "10" "106821138" "106821138" "subst" "0" "00006" "POLR3B_000013" "g.106821138T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106427360T>C" "" "pathogenic (recessive)" "" "0000711941" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711942" "1" "90" "10" "106838284" "106838284" "subst" "0" "00006" "POLR3B_000064" "g.106838284G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106444506G>A" "" "pathogenic (recessive)" "" "0000711943" "1" "90" "10" "106804739" "106804739" "subst" "0" "00006" "POLR3B_000010" "g.106804739G>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106410961G>C" "" "pathogenic (recessive)" "" "0000711944" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711946" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711947" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711951" "3" "90" "10" "106757654" "106757654" "subst" "0" "00006" "POLR3B_000001" "g.106757654T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106363876T>C" "" "pathogenic (recessive)" "" "0000711954" "1" "90" "10" "106763365" "106763365" "subst" "0" "00006" "POLR3B_000003" "g.106763365G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106369587G>A" "" "pathogenic (recessive)" "" "0000711955" "1" "90" "10" "106824112" "106824112" "subst" "0" "00006" "POLR3B_000015" "g.106824112G>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430334G>T" "" "pathogenic (recessive)" "" "0000711956" "1" "90" "10" "106831447" "106831447" "subst" "0" "00006" "POLR3B_000021" "g.106831447A>G" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106437669A>G" "" "pathogenic (recessive)" "" "0000711957" "1" "90" "10" "106804623" "106804623" "subst" "0" "00006" "POLR3B_000008" "g.106804623G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106410845G>A" "" "pathogenic (recessive)" "" "0000711960" "1" "90" "10" "106763129" "106763129" "subst" "0" "00006" "POLR3B_000002" "g.106763129G>A" "" "{PMID:Ozgen 2005:15672385}" "" "" "" "Germline" "" "" "0" "" "" "g.106369351G>A" "" "pathogenic (recessive)" "" "0000711961" "3" "90" "10" "106757654" "106757654" "subst" "0" "00006" "POLR3B_000001" "g.106757654T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106363876T>C" "" "pathogenic (recessive)" "" "0000711964" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711967" "1" "90" "10" "106826108" "106826108" "subst" "0" "00006" "POLR3B_000018" "g.106826108G>T" "" "{PMID:Wolf 2014:25339210}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.106432330G>T" "" "pathogenic" "" "0000711968" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711969" "3" "90" "10" "106821126" "106821126" "subst" "0" "00006" "POLR3B_000012" "g.106821126C>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106427348C>T" "" "pathogenic (recessive)" "" "0000711971" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711973" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000711974" "3" "90" "10" "106895124" "106895124" "subst" "0" "00006" "POLR3B_000076" "g.106895124A>G" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106501346A>G" "" "pathogenic (recessive)" "" "0000711975" "1" "90" "10" "106804623" "106804623" "subst" "0" "00006" "POLR3B_000008" "g.106804623G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106410845G>A" "" "pathogenic (recessive)" "" "0000711976" "1" "90" "10" "106826199" "106826199" "subst" "0" "00006" "POLR3B_000005" 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"0" "" "" "g.106463544dup" "" "pathogenic (recessive)" "" "0000712055" "11" "90" "12" "106821072" "106821072" "subst" "0" "00006" "ALX1_000001" "g.106821072T>C" "" "{PMID:Richards 2017:27512013}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000712056" "11" "90" "12" "106821072" "106821072" "subst" "0" "00006" "ALX1_000001" "g.106821072T>C" "" "{PMID:Richards 2017:27512013}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000723795" "0" "70" "12" "106821117" "106821117" "subst" "0.000561354" "02329" "POLR3B_000032" "g.106821117T>C" "" "" "" "POLR3B(NM_018082.5):c.1244T>C (p.M415T), POLR3B(NM_018082.6):c.1244T>C (p.(Met415Thr), p.M415T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723796" "0" "30" "12" "106824254" "106824254" "subst" "1.22719E-5" "01943" "POLR3B_000080" "g.106824254A>G" "" "" "" "POLR3B(NM_018082.5):c.1464+3A>G, POLR3B(NM_018082.6):c.1464+3A>G" "VKGL 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"{PMID:Srivastava 2014:25131622}" "" "" "" "Germline" "" "" "0" "" "" "g.106410845G>A" "" "likely pathogenic" "" "0000805502" "0" "30" "12" "106824188" "106824188" "subst" "0.00165722" "02326" "POLR3B_000048" "g.106824188T>A" "" "" "" "POLR3B(NM_018082.6):c.1401T>A (p.(Gly467=), p.G467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805503" "0" "30" "12" "106831475" "106831475" "subst" "0.00125576" "02326" "POLR3B_000052" "g.106831475T>C" "" "" "" "POLR3B(NM_018082.5):c.1873T>C (p.L625=), POLR3B(NM_018082.6):c.1873T>C (p.L625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862781" "0" "50" "12" "106821018" "106821018" "subst" "0" "01943" "POLR3B_000082" "g.106821018C>G" "" "" "" "POLR3B(NM_018082.5):c.1145C>G (p.S382C, p.(Ser382Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862782" "0" "50" "12" "106897961" "106897961" "subst" "0" "02329" "POLR3B_000083" "g.106897961A>T" "" "" "" "POLR3B(NM_018082.6):c.3201A>T (p.R1067S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890243" "0" "50" "12" "106804629" "106804629" "subst" "0" "02329" "POLR3B_000086" "g.106804629A>G" "" "" "" "POLR3B(NM_018082.6):c.992A>G (p.K331R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913734" "0" "50" "12" "107155008" "107155008" "subst" "0" "02325" "POLR3B_000087" "g.107155008C>G" "" "" "" "RFX4(NM_213594.3):c.1969C>G (p.P657A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000916862" "0" "70" "12" "106838300" "106838300" "subst" "0" "04451" "POLR3B_000088" "g.106838300T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.106444522T>A" "" "likely pathogenic" "ACMG" "0000925519" "0" "30" "12" "106770137" "106770137" "subst" "1.2257E-5" "02325" "POLR3B_000089" "g.106770137A>G" "" "" "" "POLR3B(NM_018082.6):c.405A>G (p.R135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925520" "0" "10" "12" "106838340" "106838340" "subst" "0.321125" "02326" "POLR3B_000023" "g.106838340T>C" "" "" "" "POLR3B(NM_018082.6):c.2055T>C (p.Y685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925521" "0" "50" "12" "107126776" "107126776" "subst" "4.06471E-6" "02327" "POLR3B_000090" "g.107126776G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936632" "1" "70" "12" "106824111" "106824111" "subst" "0" "00006" "POLR3B_000014" "g.106824111C>T" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106430333C>T" "" "likely pathogenic (recessive)" "" "0000936633" "3" "70" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic (recessive)" "" "0000936634" "3" "70" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic (recessive)" "" "0000936635" "1" "70" "12" "106763369" "106763369" "subst" "0" "00006" "POLR3B_000004" "g.106763369G>T" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106369591G>T" "" "likely pathogenic (recessive)" "" "0000936636" "1" "70" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic (recessive)" "" "0000936637" "3" "70" "12" "106770231" "106770231" "subst" "0" "00006" "POLR3B_000092" "g.106770231A>G" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106376453A>G" "" "likely pathogenic (recessive)" "" "0000936638" "1" "70" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic (recessive)" "" "0000936639" "1" "70" "12" "106838284" "106838284" "subst" "1.2189E-5" "00006" "POLR3B_000064" "g.106838284G>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106444506G>A" "" "likely pathogenic (recessive)" "" "0000936640" "1" "70" "12" "106838284" "106838284" "subst" "1.2189E-5" "00006" "POLR3B_000064" "g.106838284G>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106444506G>A" "" "likely pathogenic (recessive)" "" "0000936641" "1" "70" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic (recessive)" "" "0000936659" "2" "70" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "likely pathogenic (recessive)" "" "0000936660" "2" "70" "12" "106853147" "106853147" "subst" "4.8788E-5" "00006" "POLR3B_000066" "g.106853147G>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106459369G>A" "" "likely pathogenic (recessive)" "" "0000936661" "2" "70" "12" "106831550" "106831554" "del" "0" "00006" "POLR3B_000095" "g.106831550_106831554del" "" "{PMID:Mirchi 2023:37197783}" "" "1947_1951del (N650Lfs*46)" "" "Germline" "" "" "0" "" "" "g.106437772_106437776del" "" "likely pathogenic (recessive)" "" "0000936662" "2" "70" "12" "106889859" "106889859" "subst" "0" "00006" "POLR3B_000097" "g.106889859G>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106496081G>A" "" "likely pathogenic (recessive)" "" "0000936663" "2" "70" "12" "106848274" "106848274" "subst" "0.000130641" "00006" "POLR3B_000053" "g.106848274A>G" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106454496A>G" "" "likely pathogenic (recessive)" "" "0000936664" "2" "70" "12" "106848274" "106848274" "subst" "0.000130641" "00006" "POLR3B_000053" "g.106848274A>G" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106454496A>G" "" "likely pathogenic (recessive)" "" "0000936665" "2" "70" "12" "106890528" "106890528" "subst" "0" "00006" "POLR3B_000072" "g.106890528A>T" "" "{PMID:Mirchi 2023:37197783}" "" "" "" "Germline" "" "" "0" "" "" "g.106496750A>T" "" "likely pathogenic (recessive)" "" "0000936670" "1" "70" "12" "106804643" "106804643" "subst" "0" "00006" "POLR3B_000093" "g.106804643G>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "variants in POLR3A are disease causing, either solely or in combination with the POLR3B variants" "Germline" "" "" "0" "" "" "g.106410865G>A" "" "likely pathogenic (recessive)" "" "0000936671" "2" "50" "12" "106752023" "106752023" "subst" "0" "00006" "POLR3B_000091" "g.106752023C>A" "" "{PMID:Mirchi 2023:37197783}" "" "" "variants in POLR3A are disease causing, either solely or in combination with the POLR3B variants" "Germline" "" "" "0" "" "" "g.106358245C>A" "" "VUS" "" "0000936674" "1" "90" "12" "106826164" "106826164" "del" "0" "00006" "POLR3B_000007" "g.106826164del" "" "{PMID:Yazidi 2019:30838315}" "" "1533delT" "" "Germline" "" "" "0" "" "" "g.106432386del" "" "pathogenic (recessive)" "" "0000936675" "1" "90" "12" "106826139" "106826139" "subst" "0" "00006" "POLR3B_000006" "g.106826139C>A" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106432361C>A" "" "pathogenic (recessive)" "" "0000936678" "1" "90" "12" "106763369" "106763369" "subst" "0" "00006" "POLR3B_000004" "g.106763369G>T" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106369591G>T" "" "pathogenic (recessive)" "" "0000936680" "1" "90" "12" "106824252" "106824252" "subst" "0" "00006" "POLR3B_000017" "g.106824252G>A" "" "{PMID:Yazidi 2019:30838315}" "" "1463+1G>A" "" "Germline" "" "" "0" "" "" "g.106430474G>A" "" "pathogenic (recessive)" "" "0000936683" "1" "90" "12" "106824111" "106824111" "subst" "0" "00006" "POLR3B_000014" "g.106824111C>T" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106430333C>T" "" "pathogenic (recessive)" "" "0000936685" "1" "90" "12" "106824075" "106824075" "subst" "0" "00006" "POLR3B_000094" "g.106824075A>T" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106430297A>T" "" "pathogenic (recessive)" "" "0000936686" "1" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936693" "3" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936694" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Yazidi 2019:30838315}" "" "1568A>T" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936695" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Yazidi 2019:30838315}" "" "1568A>T" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936698" "2" "90" "12" "106853147" "106853147" "subst" "4.8788E-5" "00006" "POLR3B_000066" "g.106853147G>A" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106459369G>A" "" "pathogenic (recessive)" "" "0000936700" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936702" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936704" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936705" "2" "90" "12" "106890528" "106890528" "subst" "0" "00006" "POLR3B_000072" "g.106890528A>T" "" "{PMID:Yazidi 2019:30838315}" "" "" "" "Germline" "" "" "0" "" "" "g.106496750A>T" "" "pathogenic (recessive)" "" "0000936725" "1" "90" "12" "106848274" "106848274" "subst" "0.000130641" "00006" "POLR3B_000053" "g.106848274A>G" "" "{PMID:La Piana 2016:27029625}" "" "" "" "Germline" "" "" "0" "" "" "g.106454496A>G" "" "pathogenic (recessive)" "" "0000936728" "1" "90" "12" "106821117" "106821117" "subst" "0.000561354" "00006" "POLR3B_000032" "g.106821117T>C" "" "{PMID:La Piana 2016:27029625}" "" "" "" "Germline" "" "" "0" "" "" "g.106427339T>C" "" "pathogenic (recessive)" "" "0000936732" "2" "90" "12" "106850924" "106850924" "subst" "2.43996E-5" "00006" "POLR3B_000096" "g.106850924C>T" "" "{PMID:La Piana 2016:27029625}" "" "" "" "Germline" "" "" "0" "" "" "g.106457146C>T" "" "pathogenic (recessive)" "" "0000936735" "2" "90" "12" "106889893" "106889893" "subst" "4.06164E-6" "00006" "POLR3B_000025" "g.106889893C>T" "" "{PMID:La Piana 2016:27029625}" "" "" "" "Germline" "" "" "0" "" "" "g.106496115C>T" "" "pathogenic (recessive)" "" "0000936757" "1" "90" "12" "106826139" "106826139" "subst" "0" "00006" "POLR3B_000006" "g.106826139C>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432361C>A" "" "pathogenic (recessive)" "" "0000936758" "1" "90" "12" "106826164" "106826164" "del" "0" "00006" "POLR3B_000007" "g.106826164del" "" "{PMID:Wolf 2014:25339210}" "" "1533delT" "" "Germline" "" "" "0" "" "" "g.106432386del" "" "pathogenic (recessive)" "" "0000936759" "1" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "1568A>T" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936768" "1" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936769" "1" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936770" "1" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936771" "1" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936772" "1" "90" "12" "106824111" "106824111" "subst" "0" "00006" "POLR3B_000014" "g.106824111C>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430333C>T" "" "pathogenic (recessive)" "" "0000936773" "1" "90" "12" "106763369" "106763369" "subst" "0" "00006" "POLR3B_000004" "g.106763369G>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106369591G>T" "" "pathogenic (recessive)" "" "0000936774" "1" "90" "12" "106786887" "106786887" "subst" "0" "00006" "POLR3B_000005" "g.106786887A>G" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106393109A>G" "" "pathogenic (recessive)" "" "0000936779" "1" "90" "12" "106824252" "106824252" "subst" "0" "00006" "POLR3B_000017" "g.106824252G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430474G>A" "" "pathogenic (recessive)" "" "0000936780" "1" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936782" "1" "90" "12" "106824133" "106824133" "subst" "0" "00006" "POLR3B_000016" "g.106824133T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430355T>C" "" "pathogenic (recessive)" "" "0000936783" "1" "90" "12" "106824133" "106824133" "subst" "0" "00006" "POLR3B_000016" "g.106824133T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106430355T>C" "" "pathogenic (recessive)" "" "0000936784" "1" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic" "" "0000936785" "1" "90" "12" "106890630" "106890630" "subst" "0" "00006" "POLR3B_000072" "g.106890630G>T" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106496852G>T" "" "pathogenic (recessive)" "" "0000936789" "3" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936790" "3" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936792" "1" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic 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"{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936905" "2" "90" "12" "106848274" "106848274" "subst" "0.000130641" "00006" "POLR3B_000053" "g.106848274A>G" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106454496A>G" "" "pathogenic (recessive)" "" "0000936906" "2" "90" "12" "106853147" "106853147" "subst" "4.8788E-5" "00006" "POLR3B_000066" "g.106853147G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106459369G>A" "" "pathogenic (recessive)" "" "0000936907" "2" "90" "12" "106831447" "106831447" "subst" "3.27541E-5" "00006" "POLR3B_000021" "g.106831447A>G" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106437669A>G" "" "pathogenic (recessive)" "" "0000936908" "2" "90" "12" "106857368" "106857368" "subst" "0" "00006" "POLR3B_000068" "g.106857368G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106463590G>A" "" "pathogenic (recessive)" "" "0000936909" "2" "90" "12" "106857368" "106857368" "subst" "0" "00006" "POLR3B_000068" "g.106857368G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106463590G>A" "" "pathogenic (recessive)" "" "0000936911" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936914" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936915" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936916" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936917" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936922" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936923" "2" "90" "12" "106838369" "106838369" "subst" "0" "00006" "POLR3B_000065" "g.106838369G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106444591G>A" "" "pathogenic (recessive)" "" "0000936924" "2" "90" "12" "106895151" "106895151" "subst" "1.22188E-5" "00006" "POLR3B_000077" "g.106895151T>C" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106501373T>C" "" "pathogenic (recessive)" "" "0000936925" "2" "90" "12" "106903274" "106903274" "subst" "0" "00006" "POLR3B_000079" "g.106903274C>G" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106509496C>G" "" "pathogenic (recessive)" "" "0000936926" "2" "90" "12" "106848386" "106848386" "del" "0" "00006" "POLR3B_000067" "g.106848386del" "" "{PMID:Wolf 2014:25339210}" "" "2190delT" "" "Germline" "" "" "0" "" "" "g.106454608del" "" "pathogenic (recessive)" "" "0000936927" "2" "90" "12" "106890656" "106890656" "subst" "4.06078E-5" "00006" "POLR3B_000074" "g.106890656A>G" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106496878A>G" "" "pathogenic (recessive)" "" "0000936928" "2" "90" "12" "106853147" "106853147" "subst" "4.8788E-5" "00006" "POLR3B_000066" "g.106853147G>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106459369G>A" "" "pathogenic (recessive)" "" "0000936929" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000936930" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Wolf 2014:25339210}" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0000966668" "0" "90" "12" "106890611" "106890611" "subst" "1.62441E-5" "02329" "POLR3B_000071" "g.106890611A>C" "" "" "" "POLR3B(NM_018082.6):c.2899A>C (p.S967R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966669" "0" "50" "12" "107114642" "107114642" "subst" "0" "02329" "POLR3B_000100" "g.107114642G>A" "" "" "" "RFX4(NM_213594.3):c.1339G>A (p.A447T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966670" "0" "30" "12" "107125970" "107125970" "subst" "0" "02327" "POLR3B_000101" "g.107125970C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979981" "0" "30" "12" "106758044" "106758044" "subst" "0" "01804" "POLR3B_000102" "g.106758044A>G" "" "" "" "POLR3B(NM_018082.6):c.105+364A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979982" "0" "50" "12" "106804604" "106804604" "subst" "0" "01804" "POLR3B_000103" "g.106804604G>A" "" "" "" "POLR3B(NM_018082.6):c.967G>A (p.(Val323Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979983" "0" "90" "12" "106821117" "106821117" "subst" "0.000561354" "01804" "POLR3B_000032" "g.106821117T>C" "" "" "" "POLR3B(NM_018082.5):c.1244T>C (p.M415T), POLR3B(NM_018082.6):c.1244T>C (p.(Met415Thr), p.M415T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979984" "0" "90" "12" "106826199" "106826199" "subst" "0.00028474" "01804" "POLR3B_000005" "g.106826199T>A" "" "" "" "POLR3B(NM_018082.5):c.1568T>A (p.V523E, p.(Val523Glu)), POLR3B(NM_018082.6):c.1568T>A (p.V523E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979985" "0" "50" "12" "106890543" "106890543" "subst" "0" "01804" "POLR3B_000104" "g.106890543T>G" "" "" "" "POLR3B(NM_018082.6):c.2831T>G (p.(Ile944Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979986" "0" "50" "12" "106895104" "106895104" "subst" "0" "01804" "POLR3B_000105" "g.106895104G>T" "" "" "" "POLR3B(NM_018082.6):c.2988G>T (p.(Glu996Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999575" "0" "30" "12" "106751698" "106751698" "subst" "0" "01804" "POLR3B_000106" "g.106751698A>G" "" "" "" "POLR3B(NM_018082.5):c.41A>G (p.(Glu14Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999576" "0" "30" "12" "106760433" "106760433" "subst" "0" "01804" "POLR3B_000107" "g.106760433C>A" "" "" "" "POLR3B(NM_018082.5):c.163-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999577" "0" "30" "12" "106770182" "106770182" "subst" "4.0656E-6" "01804" "POLR3B_000108" "g.106770182A>C" "" "" "" "POLR3B(NM_018082.5):c.450A>C (p.(Lys150Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999578" "0" "50" "12" "106773901" "106773901" "subst" "4.06878E-6" "02325" "POLR3B_000031" "g.106773901T>C" "" "" "" "POLR3B(NM_018082.5):c.707T>C (p.I236T), POLR3B(NM_018082.6):c.707T>C (p.I236T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999579" "0" "50" "12" "106821018" "106821018" "subst" "0" "01804" "POLR3B_000082" "g.106821018C>G" "" "" "" "POLR3B(NM_018082.5):c.1145C>G (p.S382C, p.(Ser382Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999580" "0" "50" "12" "106830896" "106830896" "subst" "0" "01804" "POLR3B_000109" "g.106830896G>T" "" "" "" "POLR3B(NM_018082.5):c.1843G>T (p.(Ala615Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999581" "0" "50" "12" "106853106" "106853106" "subst" "0" "02325" "POLR3B_000110" "g.106853106A>G" "" "" "" "POLR3B(NM_018082.6):c.2530A>G (p.N844D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999582" "0" "90" "12" "106857392" "106857392" "del" "0" "01804" "POLR3B_000069" "g.106857392del" "" "" "" "POLR3B(NM_018082.5):c.2707delC (p.(Gln903fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999583" "0" "50" "12" "106890589" "106890589" "del" "0" "01804" "POLR3B_000111" "g.106890589del" "" "" "" "POLR3B(NM_018082.5):c.2877delC (p.(Tyr960fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999584" "0" "50" "12" "106890644" "106890644" "subst" "1.62434E-5" "01804" "POLR3B_000112" "g.106890644C>T" "" "" "" "POLR3B(NM_018082.5):c.2932C>T (p.(Arg978Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999585" "0" "50" "12" "106895135" "106895135" "subst" "4.07166E-5" "01804" "POLR3B_000113" "g.106895135G>A" "" "" "" "POLR3B(NM_018082.5):c.3019G>A (p.(Val1007Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014898" "0" "50" "12" "106821117" "106821117" "subst" "0.000561354" "02325" "POLR3B_000032" "g.106821117T>C" "" "" "" "POLR3B(NM_018082.5):c.1244T>C (p.M415T), POLR3B(NM_018082.6):c.1244T>C (p.(Met415Thr), p.M415T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026092" "0" "30" "12" "106890601" "106890601" "subst" "0" "02325" "POLR3B_000114" "g.106890601G>A" "" "" "" "POLR3B(NM_018082.6):c.2889G>A (p.A963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038899" "0" "50" "12" "106751713" "106751713" "subst" "1.22927E-5" "01804" "POLR3B_000115" "g.106751713C>G" "" "" "" "POLR3B(NM_018082.6):c.56C>G (p.(Pro19Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038900" "0" "30" "12" "106757690" "106757690" "subst" "0" "01804" "POLR3B_000116" "g.106757690T>A" "" "" "" "POLR3B(NM_018082.6):c.105+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038901" "0" "50" "12" "106763412" "106763412" "subst" "0" "01804" "POLR3B_000117" "g.106763412T>C" "" "" "" "POLR3B(NM_018082.6):c.355T>C (p.(Tyr119His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038902" "0" "90" "12" "106773858" "106773858" "subst" "8.13405E-6" "01804" "POLR3B_000063" "g.106773858C>T" "" "" "" "POLR3B(NM_018082.6):c.664C>T (p.(Arg222*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038903" "0" "10" "12" "106804612" "106804612" "subst" "0.00554738" "01804" "POLR3B_000039" "g.106804612A>G" "" "" "" "POLR3B(NM_018082.5):c.975A>G (p.E325=), POLR3B(NM_018082.6):c.975A>G (p.(Glu325=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001038904" "0" "50" "12" "106804623" "106804623" "subst" "4.06716E-6" "01804" "POLR3B_000008" "g.106804623G>A" "" "" "" "POLR3B(NM_018082.6):c.986G>A (p.(Arg329Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038905" "0" "50" "12" "106824254" "106824254" "subst" "1.22719E-5" "01804" "POLR3B_000080" "g.106824254A>G" "" "" "" "POLR3B(NM_018082.5):c.1464+3A>G, POLR3B(NM_018082.6):c.1464+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038906" "0" "50" "12" "106827571" "106827571" "subst" "8.54638E-5" "01804" "POLR3B_000118" "g.106827571A>G" "" "" "" "POLR3B(NM_018082.6):c.1702A>G (p.(Ile568Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038907" "0" "50" "12" "106848369" "106848369" "subst" "2.03611E-5" "01804" "POLR3B_000119" "g.106848369A>G" "" "" "" "POLR3B(NM_018082.6):c.2173A>G (p.(Ile725Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038908" "0" "50" "12" "106898394" "106898394" "subst" "0" "01804" "POLR3B_000120" "g.106898394C>T" "" "" "" "POLR3B(NM_018082.6):c.3272+362C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038909" "0" "50" "12" "107080781" "107080783" "del" "0" "01804" "POLR3B_000121" "g.107080781_107080783del" "" "" "" "RFX4(NM_213594.3):c.497_499del (p.(Val166del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038910" "0" "50" "12" "107113828" "107113828" "subst" "9.75102E-5" "01804" "POLR3B_000122" "g.107113828T>C" "" "" "" "RFX4(NM_213594.3):c.1229T>C (p.(Val410Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047983" "1" "70" "12" "106826127" "106826127" "subst" "0" "03544" "POLR3B_000123" "g.106826127T>A" "" "" "" "" "detected in trans with the recurrent pathogenic variant c.1568T>A" "Germline" "yes" "" "0" "" "" "g.106432349T>A" "" "likely pathogenic" "ACMG" "0001048401" "2" "90" "12" "106826199" "106826199" "subst" "0.00028474" "03544" "POLR3B_000005" "g.106826199T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic (recessive)" "" "0001054467" "0" "50" "12" "106757660" "106757660" "del" "0" "01804" "POLR3B_000124" "g.106757660del" "" "" "" "POLR3B(NM_018082.6):c.85del (p.(Leu29Cysfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054468" "0" "50" "12" "106770184" "106770184" "subst" "3.65937E-5" "01804" "POLR3B_000125" "g.106770184C>T" "" "" "" "POLR3B(NM_018082.6):c.452C>T (p.(Thr151Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054469" "0" "50" "12" "106821137" "106821137" "subst" "0" "01804" "POLR3B_000126" "g.106821137G>A" "" "" "" "POLR3B(NM_018082.6):c.1263+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054470" "0" "30" "12" "106824188" "106824188" "subst" "0.00165722" "01804" "POLR3B_000048" "g.106824188T>A" "" "" "" "POLR3B(NM_018082.6):c.1401T>A (p.(Gly467=), p.G467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054471" "0" "50" "12" "106826240" "106826240" "subst" "0" "01804" "POLR3B_000127" "g.106826240T>C" "" "" "" "POLR3B(NM_018082.6):c.1609T>C (p.(Phe537Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054472" "0" "30" "12" "106857403" "106857403" "subst" "4.06944E-6" "01804" "POLR3B_000128" "g.106857403A>G" "" "" "" "POLR3B(NM_018082.6):c.2713+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054473" "0" "50" "12" "106890656" "106890656" "subst" "4.06078E-5" "01804" "POLR3B_000074" "g.106890656A>G" "" "" "" "POLR3B(NM_018082.6):c.2944A>G (p.(Asn982Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054474" "0" "50" "12" "107154994" "107154994" "subst" "0.000155169" "01804" "POLR3B_000129" "g.107154994C>A" "" "" "" "RFX4(NM_213594.3):c.1955C>A (p.(Thr652Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059033" "0" "90" "12" "106826199" "106826199" "subst" "0.00028474" "00006" "POLR3B_000005" "g.106826199T>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.106432421T>A" "" "pathogenic" "" "0001059034" "0" "70" "12" "106804623" "106804623" "subst" "4.06716E-6" "00006" "POLR3B_000008" "g.106804623G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.106410845G>A" "" "likely 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 POLR3B ## Count = 412 "{{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}}" "0000194455" "00016517" "70" "1508" "0" "1508" "0" "c.1508C>A" "r.(?)" "p.(Thr503Lys)" "15" "0000194456" "00016517" "70" "1533" "0" "1533" "0" "c.1533del" "r.(?)" "p.(Ile511Metfs*4)" "15" "0000194457" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000194458" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000194459" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000194460" "00016517" "70" "1648" "0" "1648" "0" "c.1648C>T" "r.0" "p.0" "16" "0000194461" "00016517" "70" "1857" "-2" "1857" "-2" "c.1857-2A>C" "r.1857_1955del" "p.(Asn620_Lys652del)" "17i" "0000194462" "00016517" "70" "1857" "-2" "1857" "-2" "c.1857-2A>C" "r.1857_1955del" "p.(Asn620_Lys652del)" "17i" "0000194463" "00016517" "70" "2303" "0" "2303" "0" "c.2303G>A" "r.(?)" "p.(Arg768His)" "21" "0000194464" "00016517" "70" "2303" "0" "2303" "0" "c.2303G>A" "r.(?)" "p.(Arg768His)" "21" "0000194465" "00016517" "70" "2686" "0" "2686" "0" "c.2686A>T" "r.(?)" "p.(Lys896*)" "23" "0000194466" "00016517" "70" "2778" "0" "2778" "0" "c.2778C>G" "r.(?)" "p.(Asp926Glu)" "24" "0000250541" "00016517" "50" "255258" "0" "255258" "0" "c.*251856A>G" "r.(=)" "p.(=)" "" "0000254352" "00016517" "30" "1958" "0" "1958" "0" "c.1958A>T" "r.(?)" "p.(Asp653Val)" "" "0000254438" "00016517" "30" "1770" "0" "1770" "0" "c.1770A>G" "r.(?)" "p.(Gly590=)" "" "0000297251" "00016517" "10" "1102" "-3" "1102" "-3" "c.1102-3dup" "r.spl?" "p.?" "" "0000297252" "00016517" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(Tyr685=)" "" "0000297253" "00016517" "10" "3396" "0" "3396" "0" "c.3396T>C" "r.(?)" "p.(Asn1132=)" "" "0000299055" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000301127" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000306139" "00016517" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Ile133=)" "" "0000323047" "00016517" "50" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000323048" "00016517" "30" "615" "-3" "615" "-3" "c.615-3T>C" "r.spl?" "p.?" "" "0000323049" "00016517" "50" "835" "0" "835" "0" "c.835A>T" "r.(?)" "p.(Thr279Ser)" "" "0000323050" "00016517" "30" "1102" "-1" "1102" "-1" "c.1102-1G>T" "r.spl?" "p.?" "" "0000323051" "00016517" "30" "1107" "0" "1107" "0" "c.1107A>T" "r.(?)" "p.(Leu369Phe)" "" "0000323053" "00016517" "30" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Ser370Phe)" "" "0000323054" "00016517" "30" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Leu371Phe)" "" "0000323055" "00016517" "30" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Leu372Phe)" "" "0000323058" "00016517" "30" "1958" "0" "1958" "0" "c.1958A>T" "r.(?)" "p.(Asp653Val)" "" "0000323059" "00016517" "50" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Arg890His)" "" "0000323060" "00016517" "90" "2809" "0" "2809" "0" "c.2809C>T" "r.(?)" "p.(Arg937Ter)" "" "0000323062" "00016517" "50" "2942" "0" "2942" "0" "c.2942A>G" "r.(?)" "p.(Tyr981Cys)" "" "0000323063" "00016517" "50" "3390" "0" "3390" "0" "c.3390G>C" "r.(?)" "p.(Lys1130Asn)" "" "0000343782" "00016517" "50" "1625" "0" "1625" "0" "c.1625A>G" "r.(?)" "p.(Asn542Ser)" "" "0000346257" "00016517" "50" "2242" "0" "2242" "0" "c.2242G>T" "r.(?)" "p.(Gly748Cys)" "" "0000346644" "00016517" "50" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Ile236Thr)" "" "0000347835" "00016517" "70" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Met415Thr)" "" "0000349594" "00016517" "50" "1988" "0" "1988" "0" "c.1988C>T" "r.(?)" "p.(Thr663Ile)" "" "0000350579" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000440055" "00016517" "50" "1457" "0" "1457" "0" "c.1457A>G" "r.(?)" "p.Glu486Gly" "" "0000546328" "00016517" "30" "197" "0" "197" "0" "c.197C>A" "r.(?)" "p.(Thr66Lys)" "" "0000546329" "00016517" "50" "412" "0" "412" "0" "c.412A>G" "r.(?)" "p.(Ile138Val)" "" "0000546330" "00016517" "50" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Ile236Thr)" "" "0000546331" "00016517" "30" "975" "0" "975" "0" "c.975A>G" "r.(?)" "p.(Glu325=)" "" "0000546332" "00016517" "30" "1102" "-2" "1102" "-2" "c.1102-2A>T" "r.spl?" "p.?" "" "0000546333" "00016517" "30" "1102" "-2" "1102" "0" "c.1102-2_1102del" "r.spl?" "p.?" "" "0000546334" "00016517" "30" "1102" "-2" "1102" "-2" "c.1102-2del" "r.spl?" "p.?" "" "0000546335" "00016517" "10" "1105" "0" "1106" "0" "c.1105_1106dup" "r.(?)" "p.(Leu369PhefsTer17)" "" "0000546336" "00016517" "30" "1105" "0" "1106" "0" "c.1105_1106dup" "r.(?)" "p.(Leu369PhefsTer17)" "" "0000546338" "00016517" "30" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Glu374Ter)" "" "0000546339" "00016517" "30" "1120" "0" "1125" "0" "c.1120_1125del" "r.(?)" "p.(Glu374_Asp375del)" "" "0000546340" "00016517" "30" "1128" "0" "1128" "0" "c.1128G>T" "r.(?)" "p.(Leu376Phe)" "" "0000546342" "00016517" "50" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Met415Thr)" "" "0000546344" "00016517" "50" "1531" "0" "1531" "0" "c.1531A>C" "r.(?)" "p.(Ile511Leu)" "" "0000546345" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000546346" "00016517" "30" "1856" "3" "1856" "3" "c.1856+3A>C" "r.spl?" "p.?" "" "0000546347" "00016517" "30" "1856" "10" "1856" "10" "c.1856+10C>T" "r.(=)" "p.(=)" "" "0000546349" "00016517" "50" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.(=)" "p.(=)" "" "0000546350" "00016517" "10" "2136" "0" "2136" "0" "c.2136A>G" "r.(?)" "p.(Leu712=)" "" "0000546351" "00016517" "30" "2218" "0" "2218" "0" "c.2218A>G" "r.(?)" "p.(Thr740Ala)" "" "0000546352" "00016517" "90" "2293" "1" "2293" "1" "c.2293+1G>A" "r.spl?" "p.?" "" "0000546353" "00016517" "30" "2559" "0" "2559" "0" "c.2559T>G" "r.(?)" "p.(Asp853Glu)" "" "0000613821" "00016517" "30" "1707" "0" "1707" "0" "c.1707T>C" "r.(?)" "p.(Asn569=)" "" "0000613822" "00016517" "30" "1873" "0" "1873" "0" "c.1873T>C" "r.(?)" "p.(Leu625=)" "" "0000613823" "00016517" "50" "180952" "0" "180952" "0" "c.*177550T>C" "r.(=)" "p.(=)" "" "0000622769" "00016517" "30" "324" "0" "324" "0" "c.324A>G" "r.(?)" "p.(Thr108=)" "" "0000648444" "00016517" "50" "-173" "0" "-173" "0" "c.-173C>T" "r.(=)" "p.(=)" "" "0000648445" "00016517" "50" "1988" "0" "1988" "0" "c.1988C>T" "r.(?)" "p.(Thr663Ile)" "" "0000648446" "00016517" "90" "2303" "0" "2303" "0" "c.2303G>A" "r.(?)" "p.(Arg768His)" "" "0000653415" "00016517" "70" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222*)" "" "0000653416" "00016517" "50" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Met)" "" "0000656968" "00016517" "30" "1776" "0" "1776" "0" "c.1776A>T" "r.(?)" "p.(Leu592=)" "" "0000675234" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl?" "p.?" "" "0000675235" "00016517" "70" "3184" "0" "3184" "0" "c.3184A>G" "r.(?)" "p.(Met1062Val)" "" "0000679384" "00016517" "30" "3276" "0" "3276" "0" "c.3276C>T" "r.(?)" "p.(Cys1092=)" "" "0000691233" "00016517" "30" "95202" "0" "95202" "0" "c.*91800A>G" "r.(=)" "p.(=)" "" "0000691234" "00016517" "30" "255192" "0" "255192" "0" "c.*251790C>T" "r.(=)" "p.(=)" "" "0000711878" "00016517" "90" "1124" "0" "1124" "0" "c.1124A>T" "r.(?)" "p.(Asp375Val)" "" "0000711879" "00016517" "90" "1277" "0" "1277" "0" "c.1277T>C" "r.(?)" "p.(Leu426Ser)" "" "0000711880" "00016517" "90" "3137" "0" "3137" "0" "c.3137G>A" "r.(?)" "p.(Arg1046His)" "" "0000711881" "00016517" "90" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Ala365Val)" "" "0000711882" "00016517" "90" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Glu363Lys)" "" "0000711883" "00016517" "90" "1385" "0" "1385" "0" "c.1385C>G" "r.(?)" "p.(Thr462Arg)" "" "0000711886" "00016517" "90" "1346" "0" "1346" "0" "c.1346T>C" "r.(?)" "p.(Leu449Pro)" "14" "0000711887" "00016517" "90" "3005" "0" "3005" "0" "c.3005T>C" "r.(?)" "p.(Ile1002Thr)" "26" "0000711888" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711895" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711898" "00016517" "90" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Cys)" "14" "0000711899" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711901" "00016517" "90" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Ser268Gly)" "10" "0000711902" "00016517" "90" "312" "0" "312" "0" "c.312G>T" "r.(?)" "p.(Leu104Phe)" "6" "0000711904" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711907" "00016517" "90" "1464" "1" "1464" "1" "c.1464+1G>A" "r.spl" "p.?" "14i" "0000711908" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711910" "00016517" "90" "3071" "0" "3071" "0" "c.3071C>T" "r.(?)" "p.(Ala1024Val)" "26" "0000711911" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711912" "00016517" "90" "1346" "0" "1346" "0" "c.1346T>C" "r.(?)" "p.(Leu449Pro)" "14" "0000711913" "00016517" "90" "2918" "0" "2918" "0" "c.2918G>T" "r.(?)" "p.(Cys973Phe)" "25" "0000711914" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711918" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711919" "00016517" "90" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Cys)" "14" "0000711920" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711921" "00016517" "90" "1325" "0" "1325" "0" "c.1325G>T" "r.(?)" "p.(Arg442Leu)" "14" "0000711922" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711923" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711924" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711925" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711926" "00016517" "90" "967" "-15" "967" "-15" "c.967-15A>G" "r.spl" "p.?" "11i" "0000711927" "00016517" "90" "1112" "0" "1113" "0" "c.1112_1113del" "r.(?)" "p.(Leu371Profs*3)" "13" "0000711928" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711929" "00016517" "90" "1325" "0" "1325" "0" "c.1325G>T" "r.(?)" "p.(Arg442Leu)" "14" "0000711930" "00016517" "90" "1788" "0" "1788" "0" "c.1788C>A" "r.(?)" "p.(Tyr596*)" "17" "0000711931" "00016517" "90" "832" "0" "833" "0" "c.832_833dup" "r.(?)" "p.(Thr279Serfs*7)" "10" "0000711933" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711934" "00016517" "90" "1263" "2" "1263" "2" "c.1263+2T>C" "r.spl" "p.?" "13i" "0000711935" "00016517" "90" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340*)" "12" "0000711936" "00016517" "90" "1263" "2" "1263" "2" "c.1263+2T>C" "r.spl" "p.?" "13i" "0000711937" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711938" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711939" "00016517" "90" "1263" "2" "1263" "2" "c.1263+2T>C" "r.spl" "p.?" "13i" "0000711941" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711942" "00016517" "90" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Met)" "19" "0000711943" "00016517" "90" "1101" "1" "1101" "1" "c.1101+1G>C" "r.spl" "p.?" "12i" "0000711944" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711946" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711947" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711951" "00016517" "90" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Trp27Arg)" "2" "0000711954" "00016517" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "6" "0000711955" "00016517" "90" "1325" "0" "1325" "0" "c.1325G>T" "r.(?)" "p.(Arg442Leu)" "14" "0000711956" "00016517" "90" "1857" "-12" "1857" "-12" "c.1857-12A>G" "r.spl" "p.?" "17i" "0000711957" "00016517" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "12" "0000711960" "00016517" "90" "303" "1" "303" "1" "c.303+1G>A" "r.spl" "p.?" "5i" "0000711961" "00016517" "90" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Trp27Arg)" "2" "0000711964" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711967" "00016517" "90" "1477" "0" "1477" "0" "c.1477G>T" "r.(?)" "p.(Val493Phe)" "15" "0000711968" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711969" "00016517" "90" "1253" "0" "1253" "0" "c.1253C>T" "r.(?)" "p.(Ala418Val)" "13" "0000711971" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711973" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711974" "00016517" "90" "3008" "0" "3008" "0" "c.3008A>G" "r.(?)" "p.(Tyr1003Cys)" "26" "0000711975" "00016517" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "12" "0000711976" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711977" "00016517" "90" "2899" "0" "2899" "0" "c.2899A>C" "r.(?)" "p.(Ser967Arg)" "25" "0000711980" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.(Gly695fs)" "19i" "0000711981" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711982" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.(Gly818fs)" "22" "0000711986" "00016517" "90" "2920" "0" "2920" "0" "c.2920G>T" "r.(?)" "p.(Glu974*)" "25" "0000711987" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711988" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.(Gly818fs)" "22i" "0000711989" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711990" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711991" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711994" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711995" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711996" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711997" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711998" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000711999" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.(Gly695fs)" "19i" "0000712000" "00016517" "90" "2944" "0" "2944" "0" "c.2944A>G" "r.(?)" "p.(Asn982Asp)" "25" "0000712005" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712010" "00016517" "90" "2683" "0" "2683" "0" "c.2683G>A" "r.(?)" "p.(Asp895Asn)" "23" "0000712011" "00016517" "90" "2683" "0" "2683" "0" "c.2683G>A" "r.(?)" "p.(Asp895Asn)" "23" "0000712014" "00016517" "90" "1579" "0" "1579" "0" "c.1579T>C" "r.(?)" "p.(Cys527Arg)" "15" "0000712016" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.(Gly695fs)" "19i" "0000712017" "00016517" "90" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Asp634Asn)" "18" "0000712018" "00016517" "90" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(Gln1118*)" "28" "0000712019" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.(Gly695fs)" "19i" "0000712020" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712021" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712022" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.(Gly818fs)" "22i" "0000712023" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.(Gly695fs)" "19i" "0000712024" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.(Gly818fs)" "22i" "0000712026" "00016517" "90" "2083" "1" "2083" "1" "c.2083+1G>A" "r.spl" "p.?" "19i" "0000712027" "00016517" "90" "3035" "0" "3035" "0" "c.3035T>C" "r.(?)" "p.(Leu1012Pro)" "26" "0000712028" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.(Gly818fs)" "22i" "0000712030" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.(Gly695fs)" "19i" "0000712031" "00016517" "90" "2817" "30" "2817" "30" "c.2817+30T>A" "r.spl" "p.?" "24i" "0000712032" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712033" "00016517" "90" "1857" "-12" "1857" "-12" "c.1857-12A>G" "r.spl" "p.?" "17i" "0000712034" "00016517" "90" "3349" "0" "3349" "0" "c.3349C>G" "r.(?)" "p.(Leu1117Val)" "28" "0000712035" "00016517" "90" "2190" "0" "2190" "0" "c.2190del" "r.(?)" "p.(Phe730Leufs*14)" "20" "0000712038" "00016517" "90" "2707" "0" "2707" "0" "c.2707del" "r.(?)" "p.(Gln903Lysfs*7)" "23" "0000712039" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712040" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712041" "00016517" "90" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Ser)" "20" "0000712042" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712043" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712044" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712047" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000712048" "00016517" "70" "770" "0" "770" "0" "c.770C>A" "r.(?)" "p.(Thr257Lys)" "" "0000712049" "00016517" "90" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Met415Thr)" "" "0000712050" "00016517" "90" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Met415Thr)" "" "0000712051" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000712052" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000712053" "00016517" "70" "2818" "-2" "2818" "-2" "c.2818-2A>T" "r.spl" "p.?" "" "0000712054" "00016517" "90" "2637" "0" "2637" "0" "c.2637dup" "r.(?)" "p.(Leu880Serfs*41)" "" "0000712055" "00016517" "90" "1199" "0" "1199" "0" "c.1199T>C" "r.(?)" "p.(Phe400Ser)" "" "0000712056" "00016517" "90" "1199" "0" "1199" "0" "c.1199T>C" "r.(?)" "p.(Phe400Ser)" "" "0000723795" "00016517" "70" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Met415Thr)" "" "0000723796" "00016517" "30" "1464" "3" "1464" "3" "c.1464+3A>G" "r.spl?" "p.?" "" "0000723797" "00016517" "30" "1938" "0" "1938" "0" "c.1938C>T" "r.(?)" "p.(Tyr646=)" "" "0000723798" "00016517" "70" "2774" "0" "2774" "0" "c.2774C>T" "r.(?)" "p.(Pro925Leu)" "" "0000788901" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000788922" "00016517" "70" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "" "0000805502" "00016517" "30" "1401" "0" "1401" "0" "c.1401T>A" "r.(?)" "p.(Gly467=)" "" "0000805503" "00016517" "30" "1873" "0" "1873" "0" "c.1873T>C" "r.(?)" "p.(Leu625=)" "" "0000862781" "00016517" "50" "1145" "0" "1145" "0" "c.1145C>G" "r.(?)" "p.(Ser382Cys)" "" "0000862782" "00016517" "50" "3201" "0" "3201" "0" "c.3201A>T" "r.(?)" "p.(Arg1067Ser)" "" "0000890243" "00016517" "50" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Lys331Arg)" "" "0000913734" "00016517" "50" "255083" "0" "255083" "0" "c.*251681C>G" "r.(=)" "p.(=)" "" "0000916862" "00016517" "70" "2015" "0" "2015" "0" "c.2015T>A" "r.(?)" "p.(Ile672Asn)" "19" "0000925519" "00016517" "30" "405" "0" "405" "0" "c.405A>G" "r.(?)" "p.(Arg135=)" "" "0000925520" "00016517" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(Tyr685=)" "" "0000925521" "00016517" "50" "226851" "0" "226851" "0" "c.*223449G>C" "r.(=)" "p.(=)" "" "0000936632" "00016517" "70" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Cys)" "" "0000936633" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936634" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936635" "00016517" "70" "312" "0" "312" "0" "c.312G>T" "r.(?)" "p.(Leu104Phe)" "" "0000936636" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936637" "00016517" "70" "496" "3" "496" "3" "c.496+3A>G" "r.spl" "p.?" "" "0000936638" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936639" "00016517" "70" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Met)" "" "0000936640" "00016517" "70" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Met)" "" "0000936641" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936659" "00016517" "70" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936660" "00016517" "70" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.(Gly818fs)" "" "0000936661" "00016517" "70" "1948" "0" "1952" "0" "c.1948_1952del" "r.(?)" "p.(Ile650Ter)" "" "0000936662" "00016517" "70" "2740" "0" "2740" "0" "c.2740G>A" "r.(?)" "p.(Glu914Lys)" "" "0000936663" "00016517" "70" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.(Gly695Valfs*5)" "" "0000936664" "00016517" "70" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.(Gly695Valfs*5)" "" "0000936665" "00016517" "70" "2818" "-2" "2818" "-2" "c.2818-2A>T" "r.spl" "p.?" "" "0000936670" "00016517" "70" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Ala336Thr)" "" "0000936671" "00016517" "50" "72" "294" "72" "294" "c.72+294C>A" "r.spl?" "p.?" "" "0000936674" "00016517" "90" "1533" "0" "1533" "0" "c.1533del" "r.(?)" "p.(Ile511MetfsTer4)" "" "0000936675" "00016517" "90" "1508" "0" "1508" "0" "c.1508C>A" "r.(?)" "p.(Thr503Lys)" "" "0000936678" "00016517" "90" "312" "0" "312" "0" "c.312G>T" "r.(?)" "p.(Leu104Phe)" "" "0000936680" "00016517" "90" "1464" "1" "1464" "1" "c.1464+1G>A" "r.spl" "p.?" "" "0000936683" "00016517" "90" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Cys)" "" "0000936685" "00016517" "90" "1288" "0" "1288" "0" "c.1288A>T" "r.(?)" "p.(Lys430Ter)" "" "0000936686" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936693" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936694" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936695" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936698" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.(Gly818Alafs*13)" "" "0000936700" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936702" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936704" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000936705" "00016517" "90" "2818" "-2" "2818" "-2" "c.2818-2A>T" "r.spl" "p.?" "" "0000936725" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.?" "19i" "0000936728" "00016517" "90" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Met415Thr)" "13" "0000936732" "00016517" "90" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Arg768Cys)" "22" "0000936735" "00016517" "90" "2774" "0" "2774" "0" "c.2774C>T" "r.(?)" "p.(Pro925Leu)" "24" "0000936757" "00016517" "90" "1508" "0" "1508" "0" "c.1508C>A" "r.(?)" "p.(Thr503Lys)" "15" "0000936758" "00016517" "90" "1533" "0" "1533" "0" "c.1533del" "r.(?)" "p.(Ile511MetfsTer4)" "15" "0000936759" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936768" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936769" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936770" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936771" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936772" "00016517" "90" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Cys)" "14" "0000936773" "00016517" "90" "312" "0" "312" "0" "c.312G>T" "r.(?)" "p.(Leu104Phe)" "6" "0000936774" "00016517" "90" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Ser268Gly)" "10" "0000936779" "00016517" "90" "1464" "1" "1464" "1" "c.1464+1G>A" "r.spl" "p.?" "14i" "0000936780" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936782" "00016517" "90" "1346" "0" "1346" "0" "c.1346T>C" "r.(?)" "p.(Leu449Pro)" "14" "0000936783" "00016517" "90" "1346" "0" "1346" "0" "c.1346T>C" "r.(?)" "p.(Leu449Pro)" "14" "0000936784" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936785" "00016517" "90" "2918" "0" "2918" "0" "c.2918G>T" "r.(?)" "p.(Cys973Phe)" "25" "0000936789" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936790" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936792" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936794" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936795" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936796" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936797" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936798" "00016517" "90" "967" "-15" "967" "-15" "c.967-15A>G" "r.spl" "p.?" "11i" "0000936799" "00016517" "90" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Cys)" "14" "0000936800" "00016517" "90" "1325" "0" "1325" "0" "c.1325G>T" "r.(?)" "p.(Arg442Leu)" "14" "0000936801" "00016517" "90" "1325" "0" "1325" "0" "c.1325G>T" "r.(?)" "p.(Arg442Leu)" "14" "0000936802" "00016517" "90" "1788" "0" "1788" "0" "c.1788C>A" "r.(?)" "p.(Tyr596Ter)" "17" "0000936803" "00016517" "90" "3005" "0" "3005" "0" "c.3005T>C" "r.(?)" "p.(Ile1002Thr)" "26" "0000936804" "00016517" "90" "1112" "0" "1113" "0" "c.1112_1113del" "r.(?)" "p.(Leu371ProfsTer3)" "13" "0000936805" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936806" "00016517" "90" "1263" "2" "1263" "2" "c.1263+2T>C" "r.spl" "p.?" "13i" "0000936807" "00016517" "90" "832" "0" "833" "0" "c.832_833dup" "r.(?)" "p.(Thr279SerfsTer7)" "10" "0000936808" "00016517" "90" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Ter)" "12" "0000936809" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936810" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936813" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936814" "00016517" "90" "1263" "2" "1263" "2" "c.1263+2T>C" "r.spl" "p.?" "13i" "0000936815" "00016517" "90" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Met)" "19" "0000936816" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936817" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936818" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936819" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936821" "00016517" "90" "1263" "2" "1263" "2" "c.1263+2T>C" "r.spl" "p.?" "13i" "0000936823" "00016517" "90" "3008" "0" "3008" "0" "c.3008A>G" "r.(?)" "p.(Tyr1003Cys)" "26" "0000936826" "00016517" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "6" "0000936827" "00016517" "90" "1325" "0" "1325" "0" "c.1325G>T" "r.(?)" "p.(Arg442Leu)" "14" "0000936828" "00016517" "90" "1857" "-12" "1857" "-12" "c.1857-12A>G" "r.spl" "p.?" "17i" "0000936829" "00016517" "90" "1101" "1" "1101" "1" "c.1101+1G>C" "r.spl" "p.?" "12i" "0000936832" "00016517" "90" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Trp27Arg)" "2" "0000936833" "00016517" "90" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Trp27Arg)" "2" "0000936838" "00016517" "90" "303" "1" "303" "1" "c.303+1G>A" "r.spl" "p.?" "5i" "0000936839" "00016517" "90" "1477" "0" "1477" "0" "c.1477G>T" "r.(?)" "p.(Val493Phe)" "15" "0000936840" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936841" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936843" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936844" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936846" "00016517" "90" "3071" "0" "3071" "0" "c.3071C>T" "r.(?)" "p.(Ala1024Val)" "26" "0000936847" "00016517" "90" "1253" "0" "1253" "0" "c.1253C>T" "r.(?)" "p.(Ala418Val)" "13" "0000936848" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936849" "00016517" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "12" "0000936850" "00016517" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "12" "0000936857" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936858" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936859" "00016517" "90" "2686" "0" "2686" "0" "c.2686A>T" "r.(?)" "p.(Lys896Ter)" "23" "0000936864" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.?" "19i" "0000936865" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.?" "19i" "0000936866" "00016517" "90" "1579" "0" "1579" "0" "c.1579T>C" "r.(?)" "p.(Cys527Arg)" "15" "0000936867" "00016517" "90" "2817" "30" "2817" "30" "c.2817+30T>A" "r.spl" "p.?" "24i" "0000936868" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936869" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.?" "22" "0000936870" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936875" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936876" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.?" "19i" "0000936878" "00016517" "90" "2899" "0" "2899" "0" "c.2899A>C" "r.(?)" "p.(Ser967Arg)" "25" "0000936879" "00016517" "90" "2899" "0" "2899" "0" "c.2899A>C" "r.(?)" "p.(Ser967Arg)" "25" "0000936880" "00016517" "90" "2920" "0" "2920" "0" "c.2920G>T" "r.(?)" "p.(Glu974Ter)" "25" "0000936885" "00016517" "90" "2707" "0" "2707" "0" "c.2707del" "r.(?)" "p.(Gln903LysfsTer7)" "23" "0000936887" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.?" "19i" "0000936888" "00016517" "90" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Asp634Asn)" "18" "0000936889" "00016517" "90" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(Gln1118Ter)" "28" "0000936890" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.?" "19i" "0000936891" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936892" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936893" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936894" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936895" "00016517" "90" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Ser)" "20" "0000936896" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936897" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.?" "22i" "0000936898" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936899" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936900" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936903" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.?" "22i" "0000936904" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936905" "00016517" "90" "2084" "-6" "2084" "-6" "c.2084-6A>G" "r.spl" "p.?" "19i" "0000936906" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.?" "22i" "0000936907" "00016517" "90" "1857" "-12" "1857" "-12" "c.1857-12A>G" "r.spl" "p.?" "17i" "0000936908" "00016517" "90" "2683" "0" "2683" "0" "c.2683G>A" "r.(?)" "p.(Asp895Asn)" "23" "0000936909" "00016517" "90" "2683" "0" "2683" "0" "c.2683G>A" "r.(?)" "p.(Asp895Asn)" "23" "0000936911" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936914" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936915" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936916" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936917" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936922" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936923" "00016517" "90" "2083" "1" "2083" "1" "c.2083+1G>A" "r.spl" "p.?" "19i" "0000936924" "00016517" "90" "3035" "0" "3035" "0" "c.3035T>C" "r.(?)" "p.(Leu1012Pro)" "26" "0000936925" "00016517" "90" "3349" "0" "3349" "0" "c.3349C>G" "r.(?)" "p.(Leu1117Val)" "28" "0000936926" "00016517" "90" "2190" "0" "2190" "0" "c.2190del" "r.(?)" "p.(Phe730LeufsTer14)" "20" "0000936927" "00016517" "90" "2944" "0" "2944" "0" "c.2944A>G" "r.(?)" "p.(Asn982Asp)" "25" "0000936928" "00016517" "90" "2570" "1" "2570" "1" "c.2570+1G>A" "r.spl" "p.?" "22i" "0000936929" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000936930" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "15" "0000966668" "00016517" "90" "2899" "0" "2899" "0" "c.2899A>C" "r.(?)" "p.(Ser967Arg)" "" "0000966669" "00016517" "50" "214717" "0" "214717" "0" "c.*211315G>A" "r.(=)" "p.(=)" "" "0000966670" "00016517" "30" "226045" "0" "226045" "0" "c.*222643C>T" "r.(=)" "p.(=)" "" "0000979981" "00016517" "30" "105" "364" "105" "364" "c.105+364A>G" "r.(=)" "p.(=)" "" "0000979982" "00016517" "50" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Val323Ile)" "" "0000979983" "00016517" "90" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Met415Thr)" "" "0000979984" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0000979985" "00016517" "50" "2831" "0" "2831" "0" "c.2831T>G" "r.(?)" "p.(Ile944Ser)" "" "0000979986" "00016517" "50" "2988" "0" "2988" "0" "c.2988G>T" "r.(?)" "p.(Glu996Asp)" "" "0000999575" "00016517" "30" "41" "0" "41" "0" "c.41A>G" "r.(?)" "p.(Glu14Gly)" "" "0000999576" "00016517" "30" "163" "-3" "163" "-3" "c.163-3C>A" "r.spl?" "p.?" "" "0000999577" "00016517" "30" "450" "0" "450" "0" "c.450A>C" "r.(?)" "p.(Lys150Asn)" "" "0000999578" "00016517" "50" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Ile236Thr)" "" "0000999579" "00016517" "50" "1145" "0" "1145" "0" "c.1145C>G" "r.(?)" "p.(Ser382Cys)" "" "0000999580" "00016517" "50" "1843" "0" "1843" "0" "c.1843G>T" "r.(?)" "p.(Ala615Ser)" "" "0000999581" "00016517" "50" "2530" "0" "2530" "0" "c.2530A>G" "r.(?)" "p.(Asn844Asp)" "" "0000999582" "00016517" "90" "2707" "0" "2707" "0" "c.2707del" "r.(?)" "p.(Gln903Lysfs*7)" "" "0000999583" "00016517" "50" "2877" "0" "2877" "0" "c.2877del" "r.(?)" "p.(Tyr960Thrfs*10)" "" "0000999584" "00016517" "50" "2932" "0" "2932" "0" "c.2932C>T" "r.(?)" "p.(Arg978Cys)" "" "0000999585" "00016517" "50" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Val1007Met)" "" "0001014898" "00016517" "50" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Met415Thr)" "" "0001026092" "00016517" "30" "2889" "0" "2889" "0" "c.2889G>A" "r.(?)" "p.(=)" "" "0001038899" "00016517" "50" "56" "0" "56" "0" "c.56C>G" "r.(?)" "p.(Pro19Arg)" "" "0001038900" "00016517" "30" "105" "10" "105" "10" "c.105+10T>A" "r.(=)" "p.(=)" "" "0001038901" "00016517" "50" "355" "0" "355" "0" "c.355T>C" "r.(?)" "p.(Tyr119His)" "" "0001038902" "00016517" "90" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222*)" "" "0001038903" "00016517" "10" "975" "0" "975" "0" "c.975A>G" "r.(?)" "p.(Glu325=)" "" "0001038904" "00016517" "50" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "" "0001038905" "00016517" "50" "1464" "3" "1464" "3" "c.1464+3A>G" "r.spl?" "p.?" "" "0001038906" "00016517" "50" "1702" "0" "1702" "0" "c.1702A>G" "r.(?)" "p.(Ile568Val)" "" "0001038907" "00016517" "50" "2173" "0" "2173" "0" "c.2173A>G" "r.(?)" "p.(Ile725Val)" "" "0001038908" "00016517" "50" "3272" "362" "3272" "362" "c.3272+362C>T" "r.(=)" "p.(=)" "" "0001038909" "00016517" "50" "180856" "0" "180858" "0" "c.*177454_*177456del" "r.(=)" "p.(=)" "" "0001038910" "00016517" "50" "213903" "0" "213903" "0" "c.*210501T>C" "r.(=)" "p.(=)" "" "0001047983" "00016517" "70" "1496" "0" "1496" "0" "c.1496T>A" "r.(?)" "p.(Met499Lys)" "15" "0001048401" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0001054467" "00016517" "50" "85" "0" "85" "0" "c.85del" "r.(?)" "p.(Leu29Cysfs*6)" "" "0001054468" "00016517" "50" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Met)" "" "0001054469" "00016517" "50" "1263" "1" "1263" "1" "c.1263+1G>A" "r.spl?" "p.?" "" "0001054470" "00016517" "30" "1401" "0" "1401" "0" "c.1401T>A" "r.(?)" "p.(Gly467=)" "" "0001054471" "00016517" "50" "1609" "0" "1609" "0" "c.1609T>C" "r.(?)" "p.(Phe537Leu)" "" "0001054472" "00016517" "30" "2713" "5" "2713" "5" "c.2713+5A>G" "r.spl?" "p.?" "" "0001054473" "00016517" "50" "2944" "0" "2944" "0" "c.2944A>G" "r.(?)" "p.(Asn982Asp)" "" "0001054474" "00016517" "50" "255069" "0" "255069" "0" "c.*251667C>A" "r.(=)" "p.(=)" "" "0001059033" "00016517" "90" "1568" "0" "1568" "0" "c.1568T>A" "r.(?)" "p.(Val523Glu)" "" "0001059034" "00016517" "70" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 299 "{{screeningid}}" "{{variantid}}" "0000118359" "0000194455" "0000118359" "0000194457" "0000118360" "0000194456" "0000118360" "0000194458" "0000118361" "0000194459" "0000118361" "0000194465" "0000118362" "0000194460" "0000118362" "0000194466" "0000118363" "0000194461" "0000118363" "0000194463" "0000118364" "0000194462" "0000118364" "0000194464" "0000209835" "0000440055" "0000291755" "0000648444" "0000291756" "0000648445" "0000291757" "0000648446" "0000296718" "0000653415" "0000296718" "0000653416" "0000308289" "0000675234" "0000308289" "0000675235" "0000328032" "0000711878" "0000328033" "0000711879" "0000328034" "0000711880" "0000328035" "0000711881" "0000328036" "0000711882" "0000328037" "0000711883" "0000328039" "0000711886" "0000328040" "0000711887" "0000328041" "0000711888" "0000328041" "0000712014" "0000328048" "0000711895" "0000328048" "0000711980" "0000328051" "0000711898" "0000328051" "0000711981" "0000328052" "0000711899" "0000328052" "0000712031" "0000328054" "0000711901" "0000328054" "0000712032" "0000328055" "0000711902" "0000328055" "0000711982" "0000328057" "0000711904" "0000328057" "0000712033" "0000328060" "0000711907" "0000328060" "0000712005" "0000328061" "0000711908" "0000328063" "0000711910" "0000328063" "0000712000" "0000328064" "0000711911" "0000328064" "0000712030" "0000328065" "0000711912" "0000328065" "0000711977" "0000328066" "0000711913" "0000328066" "0000711986" "0000328067" "0000711914" "0000328071" "0000711918" "0000328072" "0000711919" "0000328072" "0000711987" "0000328073" "0000711920" "0000328073" "0000712038" "0000328074" "0000711921" "0000328074" "0000712039" "0000328075" "0000711922" "0000328075" "0000712016" "0000328076" "0000711923" "0000328076" "0000712017" "0000328077" "0000711924" "0000328077" "0000712018" "0000328078" "0000711925" "0000328078" "0000712019" "0000328079" "0000711926" "0000328079" "0000712020" "0000328080" "0000711927" "0000328080" "0000712021" "0000328081" "0000711928" "0000328081" "0000711988" "0000328082" "0000711929" "0000328082" "0000712040" "0000328083" "0000711930" "0000328083" "0000712041" "0000328084" "0000711931" "0000328084" "0000712042" "0000328086" "0000711933" "0000328086" "0000712022" "0000328087" "0000711934" "0000328087" "0000711989" "0000328088" "0000711935" "0000328088" "0000711990" "0000328089" "0000711936" "0000328089" "0000712043" "0000328090" "0000711937" "0000328091" "0000711938" "0000328092" "0000711939" "0000328092" "0000711991" "0000328094" "0000711941" "0000328094" "0000712010" "0000328095" "0000711942" "0000328095" "0000712023" "0000328096" "0000711943" "0000328096" "0000712044" "0000328097" "0000711944" "0000328097" "0000712024" "0000328099" "0000711946" "0000328099" "0000712034" "0000328100" "0000711947" "0000328100" "0000712011" "0000328104" "0000711951" "0000328107" "0000711954" "0000328107" "0000711994" "0000328108" "0000711955" "0000328108" "0000711995" "0000328109" "0000711956" "0000328109" "0000711996" "0000328110" "0000711957" "0000328110" "0000711997" "0000328113" "0000711960" "0000328113" "0000712047" "0000328114" "0000711961" "0000328117" "0000711964" "0000328117" "0000712026" "0000328120" "0000711967" "0000328121" "0000711968" "0000328121" "0000712027" "0000328122" "0000711969" "0000328124" "0000711971" "0000328124" "0000712035" "0000328126" "0000711973" "0000328126" "0000712028" "0000328127" "0000711974" "0000328128" "0000711975" "0000328128" "0000711998" "0000328129" "0000711976" "0000328129" "0000711999" "0000328130" "0000712048" "0000328131" "0000712049" "0000328131" "0000712053" "0000328132" "0000712050" "0000328132" "0000712054" "0000328133" "0000712051" "0000328133" "0000712055" "0000328134" "0000712052" "0000328134" "0000712056" "0000376846" "0000788901" "0000376846" "0000788922" "0000431642" "0000916862" "0000440302" "0000936632" "0000440302" "0000936659" "0000440303" "0000936633" "0000440304" "0000936634" "0000440305" "0000936635" "0000440305" "0000936660" "0000440306" "0000936636" "0000440306" "0000936661" "0000440307" "0000936637" "0000440308" "0000936638" "0000440308" "0000936662" "0000440309" "0000936639" "0000440309" "0000936663" "0000440310" "0000936640" "0000440310" "0000936664" "0000440311" "0000936641" "0000440311" "0000936665" "0000440316" "0000936670" "0000440316" "0000936671" "0000440317" "0000936674" "0000440317" "0000936694" "0000440318" "0000936675" "0000440318" "0000936695" "0000440321" "0000936678" "0000440321" "0000936698" "0000440323" "0000936680" "0000440323" "0000936700" "0000440326" "0000936683" "0000440326" "0000936702" "0000440328" "0000936685" "0000440328" "0000936704" "0000440329" "0000936686" "0000440329" "0000936705" "0000440336" "0000936693" "0000440346" "0000936725" "0000440346" "0000936732" "0000440349" "0000936728" "0000440349" "0000936735" "0000440362" "0000936757" "0000440362" "0000936857" "0000440363" "0000936758" "0000440363" "0000936858" "0000440364" "0000936759" "0000440364" "0000936859" "0000440373" "0000936768" "0000440373" "0000936864" "0000440374" "0000936769" "0000440374" "0000936865" "0000440375" "0000936770" "0000440375" "0000936866" "0000440376" "0000936771" "0000440376" "0000936867" "0000440377" "0000936772" "0000440377" "0000936868" "0000440378" "0000936773" "0000440378" "0000936869" "0000440379" "0000936774" "0000440379" "0000936870" "0000440384" "0000936779" "0000440384" "0000936875" "0000440385" "0000936780" "0000440385" "0000936876" "0000440387" "0000936782" "0000440387" "0000936878" "0000440388" "0000936783" "0000440388" "0000936879" "0000440389" "0000936784" "0000440390" "0000936785" "0000440390" "0000936880" "0000440394" "0000936789" "0000440395" "0000936790" "0000440397" "0000936792" "0000440397" "0000936885" "0000440399" "0000936794" "0000440399" "0000936887" "0000440400" "0000936795" "0000440400" "0000936888" "0000440401" "0000936796" "0000440401" "0000936889" "0000440402" "0000936797" "0000440402" "0000936890" "0000440403" "0000936798" "0000440403" "0000936891" "0000440404" "0000936799" "0000440404" "0000936892" "0000440405" "0000936800" "0000440405" "0000936893" "0000440406" "0000936801" "0000440406" "0000936894" "0000440407" "0000936802" "0000440407" "0000936895" "0000440408" "0000936803" "0000440409" "0000936804" "0000440409" "0000936896" "0000440410" "0000936805" "0000440410" "0000936897" "0000440411" "0000936806" "0000440411" "0000936898" "0000440412" "0000936807" "0000440412" "0000936899" "0000440413" "0000936808" "0000440413" "0000936900" "0000440414" "0000936809" "0000440415" "0000936810" "0000440418" "0000936813" "0000440418" "0000936903" "0000440419" "0000936814" "0000440419" "0000936904" "0000440420" "0000936815" "0000440420" "0000936905" "0000440421" "0000936816" "0000440421" "0000936906" "0000440422" "0000936817" "0000440422" "0000936907" "0000440423" "0000936818" "0000440423" "0000936908" "0000440424" "0000936819" "0000440424" "0000936909" "0000440426" "0000936821" "0000440426" "0000936911" "0000440428" "0000936823" "0000440431" "0000936826" "0000440431" "0000936914" "0000440432" "0000936827" "0000440432" "0000936915" "0000440433" "0000936828" "0000440433" "0000936916" "0000440434" "0000936829" "0000440434" "0000936917" "0000440437" "0000936832" "0000440438" "0000936833" "0000440443" "0000936838" "0000440443" "0000936922" "0000440444" "0000936839" "0000440445" "0000936840" "0000440445" "0000936923" "0000440446" "0000936841" "0000440446" "0000936924" "0000440448" "0000936843" "0000440448" "0000936925" "0000440449" "0000936844" "0000440449" "0000936926" "0000440451" "0000936846" "0000440451" "0000936927" "0000440452" "0000936847" "0000440453" "0000936848" "0000440453" "0000936928" "0000440454" "0000936849" "0000440454" "0000936929" "0000440455" "0000936850" "0000440455" "0000936930" "0000468240" "0001047983" "0000468240" "0001048401" "0000470911" "0001059033" "0000470912" "0001059034"