### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASPM) # 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}}" "ASPM" "asp (abnormal spindle) homolog, microcephaly associated (Drosophila)" "1" "q31" "no" "NG_015867.1" "UD_132118418221" "" "https://www.LOVD.nl/ASPM" "" "1" "19048" "259266" "605481" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ASPM_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2023-03-11 22:36:14" "00006" "2025-10-10 16:21:07" ## 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}}" "00000058" "ASPM" "asp (abnormal spindle) homolog, microcephaly associated (Drosophila), transcript variant 1" "002" "NM_018136.4" "" "NP_060606.3" "" "" "" "-257" "10631" "10434" "197115824" "197053257" "00002" "2012-05-11 13:11:58" "" "" ## 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" "02242" "XLI" "ichthyosis, X-linked (XLI)" "XLR" "308100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02784" "MCPH5" "microcephaly, type 5, autosomal recessive (MCPH-5)" "AR" "608716" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05153" "MCPH" "microcephaly, primary, autosomal recessive (MCPH)" "" "" "" "" "" "00006" "2016-04-14 15:50:58" "00006" "2016-07-05 08:24:40" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ASPM" "00139" "ASPM" "02784" "ASPM" "05421" ## Individuals ## Do not remove or alter this header ## ## Count = 510 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00057250" "" "" "" "1" "" "01494" "{PMID:Rump 2016:26846091}" "" "F" "-" "" "" "0" "" "" "" "Pat6" "00057267" "" "" "" "1" "" "01494" "{PMID:Rump 2016:26846091}" "" "F" "" "" "" "0" "" "" "" "Pat32" "00080943" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081001" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00132087" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "M" "yes" "Macau" "" "0" "" "" "Morocco" "Pat1" "00132088" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "F" "" "France" "" "0" "" "" "Morocco" "Pat3" "00132089" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "M" "no" "France" "" "0" "" "" "" "Pat4" "00132090" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "M" "no" "France" "" "0" "" "" "" "Pat5" "00132091" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "F" "yes" "France" "" "0" "" "" "Morocco" "Pat6" "00132121" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "M" "no" "Congo" "" "0" "" "" "" "Pat7" "00132122" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "F" "" "France" "" "0" "" "" "" "Pat10" "00132123" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "F" "no" "Spain" "" "0" "" "" "" "Pat11" "00132143" "" "" "" "2" "" "02285" "{PMID:Letard 2018:29243349}" "family, 2 affected sibs (F, M)" "F" "yes" "Egypt" "" "0" "" "" "" "FamPat12.1" "00132144" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "M" "no" "France" "" "0" "" "" "Cameroon" "Pat13" "00132145" "" "" "" "2" "" "02285" "{PMID:Letard 2018:29243349}" "family, 2 affected sibs (2M)" "M" "?" "Macau" "" "0" "" "" "Morocco" "FamPat14.1" "00132146" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "F" "yes" "France" "" "0" "" "" "Turkey" "Pat15" "00132271" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "M" "no" "France" "" "0" "" "" "Tunisia" "Pat18" "00132272" "" "" "" "2" "" "02285" "{PMID:Letard 2018:29243349}" "family, 2 affected sibs (2M)" "M" "no" "France" "" "0" "" "" "" "FamPat17.1" "00132276" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "F" "no" "France" "" "0" "" "" "" "Pat19" "00132277" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "M" "no" "Italy" "" "0" "" "" "" "Pat20" "00132279" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "M" "?" "France" "" "0" "" "" "" "Pat21" "00132281" "" "" "" "2" "" "02285" "{PMID:Letard 2018:29243349}" "family, 2 affected sibs (2M)" "M" "yes" "Egypt" "" "0" "" "" "" "FamPat23.1" "00132282" "" "" "" "3" "" "02285" "{PMID:Letard 2018:29243349}" "family, 3 affected sibs (2F, M)" "F" "yes" "Morocco" "" "0" "" "" "" "FamPat24.1" "00132284" "" "" "" "1" "" "02285" "{PMID:Letard 2018:29243349}" "" "M" "?" "France" "" "0" "" "" "Africa" "Pat8" "00150141" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB4837" "00150142" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB4914" "00150143" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5056" "00154976" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00208783" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00275641" "" "" "" "4" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR94Pat5" "00275642" "" "" "00275641" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR94Pat6" "00275643" "" "" "00275641" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR94Pat7" "00275644" "" "" "00275641" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR94Pat8" "00275656" "" "" "" "3" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR115Pat1" "00275657" "" "" "00275656" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR115Pat2" "00275658" "" "" "00275656" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR115Pat5" "00289631" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289632" "" "" "" "192" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289633" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289634" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289635" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289636" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289637" "" "" "" "46" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289638" "" "" "" "55" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289639" "" "" "" "53" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289640" "" "" "" "41" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295110" "" "" "" "107" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295357" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304172" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304173" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304174" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305323" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317996" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR102" "00374206" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-887" "00374207" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1362" "00374208" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1339" "00387828" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents once removed" "" "yes" "Iran" "" "0" "" "" "Persia" "M8800033" "00387845" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Azeri" "M8900177" "00387849" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8900189" "00387882" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M9000091" "00401208" "" "" "" "1" "" "00006" "{PMID:Naqvi 2022:35089071}" "5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00408082" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "3" "00428770" "" "" "" "2" "" "00006" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 2 affected, boy and affected carrier mother" "M" "" "" "" "0" "" "" "" "Pat24" "00433334" "" "" "" "1" "" "00006" "{PMID:Passemard 2009:19770472}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021: 34402213}" "patient" "M" "no" "Algeria;Lebanon" "" "0" "" "" "white" "Pat10;Pan17;Pat3" "00433335" "" "" "" "2" "" "00006" "{PMID:Tunca 2006:16532515}, {PMID:Desir 2006:17029297}, {PMID:Duerinckx 2021: 34402213}" "family, 1 affected and terminated pregnancy" "F" "yes" "Turkey" "" "0" "" "" "" "?;FamA;Pat4" "00433336" "" "" "" "2" "" "00006" "{PMID:Letard 2018:29243349}, {PMID:Duerinckx 2021:34402213}" "family, affected brother/sister" "M" "no" "Belgium" "" "0" "" "" "" "Pat2;Pat5" "00433337" "" "" "" "4" "" "00006" "{PMID:Jamieson 2000:11067780}, {PMID:Bond 2003:14574646}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021: 34402213}" "2-generation family, 4 affected sibs (F, 3M) unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "family;?;Pan15;Pat6" "00433338" "" "" "" "2" "" "00006" "{PMID:Letard 2018:29243349}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "family, 2 affected sibs" "M" "yes" "Turkey" "" "0" "" "" "" "Pat16;Pan1;Pat7" "00433339" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}, {PMID:Duerinckx 2021: 34402213}" "patient" "F" "yes" "Morocco" "" "0" "" "" "" "Pat22;Pat8" "00433340" "" "" "" "3" "" "00006" "{PMID:Tunca 2006:16532515}, {PMID:Desir 2006:17029297}, {PMID:Duerinckx 2021: 34402213}" "family, 3 affected, affected uncle, affected and terminated pregnancy" "M" "yes" "Turkey" "" "0" "" "" "" "?;FamB;Pat9" "00433341" "" "" "" "2" "" "00006" "{PMID:Desir 2008:18452193}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "5-generation family, affected sister/brother (F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Morocco" "" "0" "" "" "" "patient;Pan12;Pat10" "00433342" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "patient" "F" "no" "" "" "0" "" "" "white;Europe" "Pat9;Pan16;Pat11" "00433343" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient, parents same village" "M" "" "Portugal" "" "0" "" "" "" "Pat12" "00433498" "" "" "" "2" "" "00006" "{PMID:Akbariazar 2013:24665293}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam9000013PatV1/2" "00433499" "" "" "" "1" "" "00006" "{PMID:Al-Gazali 2010:20437613}" "" "" "" "United Arab Emirates" "" "0" "" "" "" "patient" "00433500" "" "" "" "1" "" "00006" "{PMID:Al-Gazali 2010:20437613}" "" "" "" "United Arab Emirates" "" "0" "" "" "" "patient" "00433502" "" "" "" "1" "" "00006" "{PMID:Papari 2013:22989186}" "4-generation family, 3 affected (3M), unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "FamM-8900188" "00433503" "" "" "" "1" "" "00006" "{PMID:Khan 2017:28674240}" "4-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Qatar" "" "0" "" "" "" "FamAPatIV3" "00433504" "" "" "" "4" "" "00006" "{PMID:Khan 2017:28674240}" "5-generation family, 4 affected, (4M) unaffected heterozygous parents/relatives" "M" "yes" "Qatar" "" "0" "" "" "" "FamB" "00433505" "" "" "" "3" "" "00006" "{PMID:Shen 2005:16141009}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "F;M" "" "Saudi Arabia" "" "0" "" "" "" "family" "00433506" "" "" "" "3" "" "00006" "{PMID:Hashmi 2016:27920410}" "4-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "family" "00433508" "" "" "" "1" "" "00006" "{PMID:Saadi 2009:19332161}" "6-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Algeria" "" "0" "" "" "" "family" "00433509" "" "" "" "1" "" "00006" "{PMID:Nakamura 2015:25765464}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "Japan" "" "0" "" "" "" "patient" "00433510" "" "" "" "1" "" "00006" "{PMID:Marchal 2011:21857152}, {PMID:Hu 2014:24691052}" "4-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Germany" "" "0" "" "" "Turkey" "family" "00433511" "" "" "" "2" "" "00006" "{PMID:Ariani 2013:22823409}" "4-generation family, 2 affected brothers, 6 female carriers with microcephaly, 1 female carrier healthy" "M" "no" "Italy" "" "0" "" "" "" "FamPatIII7/10" "00433512" "" "" "" "4" "" "00006" "{PMID:Bond 2002:12355089}" "2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatII1/2/3/4" "00433513" "" "" "" "1" "" "00006" "{PMID:Bond 2002:12355089}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam2" "00433514" "" "" "" "1" "" "00006" "{PMID:Bond 2002:12355089}" "" "" "yes" "Pakistan" "" "0" "" "" "" "Fam3" "00433515" "" "" "" "1" "" "00006" "{PMID:Bond 2002:12355089}" "" "" "yes" "Pakistan" "" "0" "" "" "" "Fam4" "00433516" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam1" "00433517" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam2" "00433518" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam3" "00433519" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam4" "00433520" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam5" "00433521" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam6" "00433522" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam7" "00433523" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam8" "00433524" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam9" "00433525" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam10" "00433526" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam11" "00433527" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam12" "00433528" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam13" "00433529" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam14" "00433530" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Netherlands" "" "0" "" "" "" "Fam15" "00433531" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Jordan" "" "0" "" "" "" "Fam16" "00433532" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam17" "00433533" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "" "" "0" "" "" "Yemenite" "Fam18" "00433534" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "" "" "0" "" "" "Yemenite" "Fam19" "00433535" "" "" "" "3" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433536" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433537" "" "" "" "3" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433538" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433539" "" "" "" "1" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433540" "" "" "" "2" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433541" "" "" "" "4" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433542" "" "" "" "3" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433543" "" "" "" "4" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433544" "" "" "" "8" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433545" "" "" "" "3" "" "00006" "{PMID:Bond 2003:14574646}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433546" "" "" "" "2" "" "00006" "{PMID:Kumar 2004:15355437}" "2-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "M" "yes" "India" "" "0" "" "" "" "Fam4PatV1" "00433547" "" "" "00433546" "1" "" "00006" "{PMID:Kumar 2004:15355437}" "sister" "F" "yes" "India" "" "0" "" "" "" "Fam4PatV2" "00433548" "" "" "" "1" "" "00006" "{PMID:Kumar 2004:15355437}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "India" "" "0" "" "" "" "Fam5PatIV2" "00433549" "" "" "" "2" "" "00006" "{PMID:Kumar 2004:15355437}" "5-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "F" "yes" "India" "" "0" "" "" "" "Fam12PatV1" "00433550" "" "" "00433549" "1" "" "00006" "{PMID:Kumar 2004:15355437}" "brother" "M" "" "India" "" "0" "" "" "" "Fam12PatV2" "00433572" "" "" "" "2" "" "00006" "{PMID:Gul 2006:16673149}" "4-generation family, 2 affected brothers, unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "Punjab" "MCP31" "00433573" "" "" "" "9" "" "00006" "{PMID:Gul 2006:16673149}" "6-generation family, 9 affected (5F, 4M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "Punjab" "MCP10" "00433574" "" "" "" "6" "" "00006" "{PMID:Gul 2006:16673149}" "5-generation family, 6 affected (2F, 4M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "Punjab" "MCP17" "00433575" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "family" "" "yes" "Pakistan" "" "0" "" "" "Haripur" "MCP6" "00433576" "" "" "" "4" "" "00006" "{PMID:Gul 2006:16673149}" "4-generation family, 4 affected sisters (4F), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "Punjab" "MCP29" "00433577" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "family" "" "yes" "Pakistan" "" "0" "" "" "Bannu" "MCP19" "00433578" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "family" "" "yes" "Pakistan" "" "0" "" "" "Bannu" "MCP20" "00433579" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "family" "" "yes" "Pakistan" "" "0" "" "" "Bannu" "MCP21" "00433580" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "family" "" "yes" "Pakistan" "" "0" "" "" "Bannu" "MCP22" "00433581" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433582" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433583" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433584" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433585" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433586" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433587" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433588" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433589" "" "" "" "1" "" "00006" "{PMID:Gul 2006:16673149}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00433590" "" "" "" "6" "" "00006" "{PMID:Gul 2007:17849285}" "family, 6 affected" "" "yes" "Pakistan" "" "0" "" "" "" "MCP35" "00433591" "" "" "" "7" "" "00006" "{PMID:Gul 2007:17849285}" "family, 7 affected" "" "yes" "Pakistan" "" "0" "" "" "Nowshera" "MCP37" "00433592" "" "" "" "7" "" "00006" "{PMID:Gul 2007:17849285}" "family, 7 affected" "" "yes" "Pakistan" "" "0" "" "" "Larkana" "MCP39" "00433593" "" "" "" "4" "" "00006" "{PMID:Gul 2007:17849285}" "family, 4 affected" "" "yes" "Pakistan" "" "0" "" "" "Larkana" "MCP40" "00433594" "" "" "" "3" "" "00006" "{PMID:Gul 2007:17849285}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "Nowshera" "MCP41" "00433595" "" "" "" "5" "" "00006" "{PMID:Gul 2007:17849285}" "family, 5 affected" "" "yes" "Pakistan" "" "0" "" "" "Khushab" "MCP42" "00433596" "" "" "" "3" "" "00006" "{PMID:Gul 2007:17849285}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "Kashmir" "MCP44" "00433597" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433598" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433599" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433600" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433601" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433602" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433603" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Turkey" "" "0" "" "" "" "" "00433604" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433605" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433606" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00433607" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433608" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433609" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433610" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433611" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433612" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433613" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433614" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "Africa" "" "00433615" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Netherlands" "" "0" "" "" "" "" "00433616" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Netherlands" "" "0" "" "" "" "" "00433617" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Netherlands" "" "0" "" "" "" "" "00433618" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "Asia" "" "00433619" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433620" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433621" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433622" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433623" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433624" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433625" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433626" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "Arab" "" "00433627" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433628" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433629" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433630" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433631" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433632" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433633" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433634" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "" "" "0" "" "" "white" "" "00433635" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433636" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Netherlands" "" "0" "" "" "" "" "00433637" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433638" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433639" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433640" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433641" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "family" "" "" "Pakistan" "" "0" "" "" "" "" "00433642" "" "" "" "2" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433643" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433644" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433645" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433646" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433647" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433648" "" "" "" "1" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433649" "" "" "" "22" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433650" "" "" "" "22" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433651" "" "" "" "22" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433652" "" "" "" "21" "" "00006" "{PMID:Nicholas 2008:19028728}" "" "" "" "" "" "0" "" "" "" "" "00433684" "" "" "" "4" "" "00006" "{PMID:Kousar 2010:19808985}" "6-generation family, 4 affected (2F, 2M)" "" "yes" "Pakistan" "" "0" "" "" "" "MCP50" "00433685" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP51" "00433686" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP54" "00433687" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP55" "00433688" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP58" "00433689" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP60" "00433690" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP61" "00433691" "" "" "" "3" "" "00006" "{PMID:Kousar 2010:19808985}" "5-generation family, 3 affected (2F, M)" "" "yes" "Pakistan" "" "0" "" "" "" "MCP66" "00433692" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP74" "00433693" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP76" "00433694" "" "" "" "5" "" "00006" "{PMID:Kousar 2010:19808985}" "6-generation family, 5 affected (2F, 3M)" "" "yes" "Pakistan" "" "0" "" "" "" "MCP89" "00433695" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP82" "00433696" "" "" "" "3" "" "00006" "{PMID:Kousar 2010:19808985}" "4-generation family, 3 affected (2F, M)" "" "yes" "Pakistan" "" "0" "" "" "" "MCP95" "00433697" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP83?" "00433698" "" "" "" "1" "" "00006" "{PMID:Kousar 2010:19808985}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "MCP84?" "00433699" "" "" "" "8" "" "00006" "{PMID:Muhammad 2009:19353628}" "5-generation family, 8 affected (3F, 5M), unaffected heterozygous parents/relatives3" "" "yes" "Pakistan" "" "0" "" "" "" "MCP18" "00433700" "" "" "" "6" "" "00006" "{PMID:Muhammad 2009:19353628}" "5-generation family, 6 affected (3F, 3M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP35" "00433701" "" "" "" "4" "" "00006" "{PMID:Muhammad 2009:19353628}" "5-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP11" "00433702" "" "" "" "2" "" "00006" "{PMID:Muhammad 2009:19353628}" "4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP13" "00433703" "" "" "" "2" "" "00006" "{PMID:Muhammad 2009:19353628}" "4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP16" "00433704" "" "" "" "4" "" "00006" "{PMID:Muhammad 2009:19353628}" "5-generation family, 4 affected (4M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP17" "00433705" "" "" "" "3" "" "00006" "{PMID:Muhammad 2009:19353628}" "6-generation family, 4 affected (2F, M), unaffected heterozygous parents/relatives3" "" "yes" "Pakistan" "" "0" "" "" "" "MCP19" "00433706" "" "" "" "6" "" "00006" "{PMID:Muhammad 2009:19353628}" "5-generation family, 6 affected (F, 5M), unaffected heterozygous parents/relatives3" "" "yes" "Pakistan" "" "0" "" "" "" "MCP2" "00433707" "" "" "" "7" "" "00006" "{PMID:Muhammad 2009:19353628}" "6-generation family, 7 affected (3F, 4M), unaffected heterozygous parents/relatives3" "" "yes" "Pakistan" "" "0" "" "" "" "MCP25" "00433708" "" "" "" "4" "" "00006" "{PMID:Muhammad 2009:19353628}" "4-generation family, 4 affected (3F, 1M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP26" "00433709" "" "" "" "4" "" "00006" "{PMID:Muhammad 2009:19353628}" "5-generation family, 4 affected (4F), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP3" "00433710" "" "" "" "6" "" "00006" "{PMID:Muhammad 2009:19353628}" "4-generation family, 6 affected (4F, 2M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP31" "00433711" "" "" "" "4" "" "00006" "{PMID:Muhammad 2009:19353628}" "7-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP32" "00433712" "" "" "" "4" "" "00006" "{PMID:Muhammad 2009:19353628}" "7-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP34" "00433713" "" "" "" "6" "" "00006" "{PMID:Muhammad 2009:19353628}" "4-generation family, 6 affected (4F, 2M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP38" "00433714" "" "" "" "5" "" "00006" "{PMID:Muhammad 2009:19353628}" "5-generation family, 6 affected (3F, 2M), unaffected heterozygous parents/relatives35" "" "yes" "Pakistan" "" "0" "" "" "" "MCP39" "00433715" "" "" "" "6" "" "00006" "{PMID:Muhammad 2009:19353628}" "4-generation family, 6 affected (F, 3M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP40" "00433716" "" "" "" "11" "" "00006" "{PMID:Muhammad 2009:19353628}" "6-generation family, 11 affected (3F, 8M), unaffected heterozygous parents/relatives3" "" "yes" "Pakistan" "" "0" "" "" "" "MCP42" "00433717" "" "" "" "3" "" "00006" "{PMID:Muhammad 2009:19353628}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP44" "00433718" "" "" "" "7" "" "00006" "{PMID:Muhammad 2009:19353628}" "6-generation family, 7 affected (4F, 3M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP6" "00433719" "" "" "" "7" "" "00006" "{PMID:Muhammad 2009:19353628}" "6-generation family, 7 affected (2F, 5M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP7" "00433720" "" "" "" "2" "" "00006" "{PMID:Muhammad 2009:19353628}" "4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "MCP9" "00433729" "" "" "" "4" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 4 affected" "" "yes" "Iran" "" "0" "" "" "" "M-064" "00433730" "" "" "" "3" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 3 affected" "" "yes" "Iran" "" "0" "" "" "" "M-136" "00433731" "" "" "" "8" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 8 affected" "" "yes" "Iran" "" "0" "" "" "" "M-273" "00433732" "" "" "" "3" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 3 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8500316" "00433733" "" "" "" "4" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 4 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8500319" "00433734" "" "" "" "4" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 4 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8600052" "00433735" "" "" "" "2" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 2 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8600275" "00433736" "" "" "" "3" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 3 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8600592" "00433737" "" "" "" "5" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 5 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8700018" "00433738" "" "" "" "2" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 2 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8700113" "00433739" "" "" "" "6" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 6 affected" "" "yes" "Iran" "" "0" "" "" "" "M-8600570" "00433741" "" "" "" "1" "" "00006" "{PMID:Halsall 2010:20679666}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00433742" "" "" "" "1" "" "00006" "{PMID:Halsall 2010:20679666}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00433743" "" "" "" "2" "" "00006" "{PMID:Passemard 2009:19770472}" "family, 2 affected (2M)" "M" "yes" "Algeria" "" "0" "" "" "" "Fam1" "00433744" "" "" "" "1" "" "00006" "{PMID:Passemard 2009:19770472}" "" "M" "no" "France" "" "0" "" "" "" "Fam2" "00433745" "" "" "" "1" "" "00006" "{PMID:Passemard 2009:19770472}" "" "M" "" "France" "" "0" "" "" "" "Fam3" "00433746" "" "" "" "1" "" "00006" "{PMID:Passemard 2009:19770472}" "" "M" "no" "France" "" "0" "" "" "" "Fam4" "00433747" "" "" "" "1" "" "00006" "{PMID:Passemard 2009:19770472}" "" "F" "no" "France" "" "0" "" "" "" "Fam5" "00433748" "" "" "" "1" "" "00006" "{PMID:Passemard 2009:19770472}" "" "M" "no" "Germany" "" "0" "" "" "" "Fam6" "00433749" "" "" "" "2" "" "00006" "{PMID:Passemard 2009:19770472}" "family, 2 affected (2M)" "M" "no" "France" "" "0" "" "" "" "Fam7" "00433750" "" "" "" "1" "" "00006" "{PMID:Passemard 2009:19770472}" "" "F" "" "Reunion" "" "0" "" "" "" "Fam8" "00433751" "" "" "" "1" "" "00006" "{PMID:Passemard 2009:19770472}" "" "F" "yes" "Morocco" "" "0" "" "" "" "Fam9" "00433752" "" "" "" "4" "" "00006" "{PMID:Passemard 2009:19770472}" "family, 4 affected (F, 3M)" "F;M" "yes" "Lebanon" "" "0" "" "" "" "Fam11" "00433762" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP48" "00433763" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP51" "00433764" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP52" "00433765" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP56" "00433766" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP57" "00433767" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP64" "00433768" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP65" "00433769" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP92" "00433770" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP58" "00433771" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP80" "00433772" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP69" "00433773" "" "" "" "5" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 5 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP70" "00433774" "" "" "" "2" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 2 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP62" "00433775" "" "" "" "4" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP55" "00433776" "" "" "" "5" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 5 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP88" "00433777" "" "" "" "6" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 6 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP54" "00433778" "" "" "" "2" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 2 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP60" "00433783" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "Poland;Germany;Czech Republic;Ireland" "" "0" "" "" "" "Fam1" "00433784" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam2" "00433785" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "Somalia" "" "0" "" "" "" "Fam3" "00433786" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam4" "00433787" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "Mexico" "" "0" "" "" "" "Fam5" "00433788" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "" "" "0" "" "" "white" "Fam6" "00433789" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "yes" "" "" "0" "" "" "Middle East" "Fam7" "00433790" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam8" "00433791" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "" "" "0" "" "" "Hispanic" "Fam9" "00433792" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Hispanic" "Fam10" "00433793" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam11" "00433794" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "United States" "" "0" "" "" "Mexico;African American" "Fam12" "00433795" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "Somalia" "" "0" "" "" "" "Fam13" "00433796" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "yes" "" "" "0" "" "" "Hispanic" "Fam14" "00433797" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "" "" "0" "" "" "white" "Fam15" "00433798" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "" "" "0" "" "" "white" "Fam16" "00433799" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "" "" "0" "" "" "Hispanic" "Fam17" "00433800" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "" "" "0" "" "" "white" "Fam18" "00433801" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "United States" "" "0" "" "" "African American" "Fam19" "00433802" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam20" "00433803" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam21" "00433804" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam22" "00433805" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam23" "00433806" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "yes" "Cambodia" "" "0" "" "" "" "Fam24" "00433807" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam25" "00433808" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam26" "00433809" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "" "" "0" "" "" "Hispanic" "Fam27" "00433810" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "" "" "0" "" "" "white" "Fam28" "00433811" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "" "Fam29" "00433812" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "United States" "" "0" "" "" "African American" "Fam30" "00433813" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "yes" "" "" "0" "" "" "Asia-S" "Fam31" "00433814" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "Pakistan" "" "0" "" "" "" "Fam32" "00433815" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "United States" "" "0" "" "" "African American" "Fam33" "00433816" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "yes" "" "" "0" "" "" "Asia-S" "Fam34" "00433817" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "yes" "" "" "0" "" "" "Asia-S" "Fam35" "00433818" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "" "" "" "0" "" "" "Middle East" "Fam36" "00433819" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "yes" "" "" "0" "" "" "Middle East" "Fam37" "00433820" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "yes" "" "" "0" "" "" "" "Fam38" "00433821" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "family" "" "no" "" "" "0" "" "" "" "Fam39" "00433822" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433823" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433824" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "patient" "" "" "" "" "0" "" "" "" "" "00433825" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433826" "" "" "" "2" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433827" "" "" "" "2" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433828" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433829" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433830" "" "" "" "2" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433831" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433832" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433833" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "patient" "" "" "" "" "0" "" "" "" "" "00433834" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433835" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433836" "" "" "" "3" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433837" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433838" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "patient" "" "" "" "" "0" "" "" "" "" "00433839" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433840" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433841" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433842" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433843" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433844" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433845" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433846" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433847" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433848" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433849" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "patient" "" "" "" "" "0" "" "" "" "" "00433850" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433851" "" "" "" "2" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433852" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433853" "" "" "" "2" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433854" "" "" "" "2" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433855" "" "" "" "2" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433856" "" "" "" "2" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433857" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433858" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433859" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433860" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433861" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433862" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433863" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433864" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433865" "" "" "" "1" "" "00006" "{PMID:Tan 2014:23611254}" "" "" "" "" "" "0" "" "" "" "" "00433880" "" "" "" "2" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 2 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC1PatIII1" "00433881" "" "" "00433880" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC1PatIII2" "00433882" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC2PatIII1" "00433883" "" "" "00433882" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC2PatIII9" "00433884" "" "" "00433882" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC2PatIV2" "00433885" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC3PatIV1" "00433886" "" "" "00433885" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC3PatIV6" "00433887" "" "" "00433885" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC3PatIV8" "00433889" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC5PatIII1" "00433890" "" "" "00433889" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC5PatIII3" "00433891" "" "" "00433889" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC5PatIV1" "00433892" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC6PatIV5" "00433893" "" "" "00433892" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC6PatIV6" "00433894" "" "" "00433892" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC6PatIV7" "00433898" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC8PatIV2" "00433899" "" "" "00433898" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC8PatIV4" "00433900" "" "" "00433898" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC8PatIV5" "00433901" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC9PatIV2" "00433902" "" "" "00433901" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC9PatIV3" "00433903" "" "" "00433901" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC9PatIV4" "00433904" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC11PatV2" "00433905" "" "" "00433904" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC11PatV3" "00433906" "" "" "00433904" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC11PatV4" "00433907" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC13PatIV1" "00433908" "" "" "00433907" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC13PatIV2" "00433909" "" "" "00433907" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC13PatIV3" "00433910" "" "" "" "5" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 5 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC14PatII1" "00433911" "" "" "00433910" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC14PatIII1" "00433912" "" "" "00433910" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC14PatIII3" "00433913" "" "" "00433910" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC14PatIII4" "00433914" "" "" "00433910" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC14PatIII5" "00433915" "" "" "" "2" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 2 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC15PatIV5" "00433916" "" "" "00433915" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC15PatIV6" "00433917" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC16PatIV1" "00433918" "" "" "00433917" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC16PatIV2" "00433919" "" "" "00433917" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC16PatIV4" "00433920" "" "" "" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC12" "00433921" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 1 affected" "F" "yes" "Egypt" "" "0" "" "" "" "Fam1Pat1" "00433922" "" "" "" "2" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 2 affected" "F" "no" "Egypt" "" "0" "" "" "" "Fam2Pat2" "00433923" "" "" "00433922" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "sib" "F" "" "Egypt" "" "0" "" "" "" "Fam2Pat3" "00433924" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 1 affected" "F" "no" "Egypt" "" "0" "" "" "" "Fam3Pat4" "00433925" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 1 affected" "F" "no" "Egypt" "" "0" "" "" "" "Fam4Pat5" "00433926" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 1 affected" "M" "yes" "Egypt" "" "0" "" "" "" "Fam5Pat6" "00433927" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 1 affected" "M" "yes" "Egypt" "" "0" "" "" "" "Fam6Pat7" "00433928" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}, {PMID:Abdel-Hamid 2016:27192889}" "family, 1 affected" "M" "no" "Egypt" "" "0" "" "" "" "Fam7Pat8" "00433929" "" "" "" "2" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 2 affected" "M" "yes" "Egypt" "" "0" "" "" "" "Fam8Pat9" "00433930" "" "" "00433929" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "sib" "M" "" "Egypt" "" "0" "" "" "" "Fam8Pat10" "00433931" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 1 affected" "F" "yes" "Egypt" "" "0" "" "" "" "Fam9Pat11" "00433932" "" "" "" "3" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 3 affected" "F" "yes" "Egypt" "" "0" "" "" "" "Fam10Pat12" "00433933" "" "" "00433932" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "sib" "F" "" "Egypt" "" "0" "" "" "" "Fam10Pat13" "00433934" "" "" "00433932" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "sib" "F" "" "Egypt" "3y" "0" "" "" "" "Fam10Pat14" "00433935" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 1 affected" "F" "yes" "Egypt" "" "0" "" "" "" "Fam11Pat15" "00433936" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 1 affected" "M" "yes" "Egypt" "" "0" "" "" "" "Fam12Pat16" "00433937" "" "" "" "2" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 2 affected" "F" "yes" "Egypt" "" "0" "" "" "" "Fam13Pat17" "00433938" "" "" "00433937" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "sib" "F" "" "Egypt" "" "0" "" "" "" "Fam13Pat18" "00433939" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 1 affected" "M" "yes" "Egypt" "" "0" "" "" "" "Fam14Pat19" "00433940" "" "" "" "2" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "family, 2 affected" "F" "yes" "Egypt" "" "0" "" "" "" "Fam15Pat20" "00433941" "" "" "00433940" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}" "sib" "F" "" "Egypt" "" "0" "" "" "" "Fam15Pat21" "00433942" "" "" "" "5" "" "00006" "{PMID:Ahmad 2017:28004384}" "4-generation family, 5 affected (2F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Punjab" "MCP96" "00433943" "" "" "" "3" "" "00006" "{PMID:Ahmad 2017:28004384}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP101" "00433944" "" "" "" "6" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 6 affected (3F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP103" "00433945" "" "" "" "4" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP106" "00433946" "" "" "" "2" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP117" "00433948" "" "" "" "2" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Punjab" "MCP120" "00433950" "" "" "" "4" "" "00006" "{PMID:Ahmad 2017:28004384}" "6-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Sindhi" "MCP123" "00433953" "" "" "" "2" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Baloch" "MCP130" "00433954" "" "" "" "3" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP131" "00433955" "" "" "" "2" "" "00006" "{PMID:Ahmad 2017:28004384}" "4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP135" "00433956" "" "" "" "3" "" "00006" "{PMID:Ahmad 2017:28004384}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP136" "00433957" "" "" "" "13" "" "00006" "{PMID:Ahmad 2017:28004384}" "6-generation family, 13 affected (7F, 6M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP137" "00433958" "" "" "" "2" "" "00006" "{PMID:Ahmad 2017:28004384}" "4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP138" "00433959" "" "" "" "5" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 5 affected (2F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP139" "00433960" "" "" "" "1" "" "00006" "{PMID:Ahmad 2017:28004384}" "" "" "" "Pakistan" "" "0" "" "" "Pashtun" "MCP140" "00433961" "" "" "" "6" "" "00006" "{PMID:Ahmad 2017:28004384}" "3-generation family, 6 affected (3F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP141" "00433962" "" "" "" "4" "" "00006" "{PMID:Ahmad 2017:28004384}" "4-generation family, 4 affected (4M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP143" "00433963" "" "" "" "3" "" "00006" "{PMID:Ahmad 2017:28004384}" "3-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Sariaki" "MCP165" "00433964" "" "" "" "4" "" "00006" "{PMID:Ahmad 2017:28004384}" "6-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Punjab" "MCP171" "00433965" "" "" "" "3" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 3 affected (3M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP174" "00433966" "" "" "" "3" "" "00006" "{PMID:Ahmad 2017:28004384}" "3-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP175" "00433967" "" "" "" "9" "" "00006" "{PMID:Ahmad 2017:28004384}" "6-generation family, 9 affected (5F, 4M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP176" "00433968" "" "" "" "8" "" "00006" "{PMID:Ahmad 2017:28004384}" "4-generation family, 8 affected (5F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP177" "00433969" "" "" "" "8" "" "00006" "{PMID:Ahmad 2017:28004384}" "4-generation family, 8 affected (4F, 4M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP178" "00433970" "" "" "" "2" "" "00006" "{PMID:Ahmad 2017:28004384}" "4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP187" "00433971" "" "" "" "2" "" "00006" "{PMID:Ahmad 2017:28004384}" "5-generation family, 2 affected (2F), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP190" "00433972" "" "" "" "3" "" "00006" "{PMID:Ahmad 2017:28004384}" "6-generation family, 3 affected (3M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Pashtun" "MCP191" "00433974" "" "" "" "1" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2" "00433975" "" "" "" "6" "" "00006" "{PMID:Wang 2017:27784895}" "3-generation family, 6 affected (2F, 4M), unaffected heterozygous parents/relatives" "F;M" "no" "Pakistan" "" "0" "" "" "" "Fam4" "00433976" "" "" "" "3" "" "00006" "{PMID:Wang 2017:27784895}" "2-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives" "F;M" "no" "Pakistan" "" "0" "" "" "" "Fam6" "00433977" "" "" "" "4" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam7" "00433978" "" "" "" "4" "" "00006" "{PMID:Wang 2017:27784895}" "3-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives" "F;M" "no" "Pakistan" "" "0" "" "" "" "Fam8" "00433979" "" "" "" "4" "" "00006" "{PMID:Wang 2017:27784895}" "2-generation family, 4 affected (4M), unaffected heterozygous parents/relatives" "M" "no" "Pakistan" "" "0" "" "" "" "Fam9" "00433980" "" "" "" "1" "" "00006" "{PMID:Wang 2017:27784895}" "5-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam10" "00433981" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "3-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "M" "no" "Pakistan" "" "0" "" "" "" "Fam12" "00433982" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam13" "00433984" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam19" "00433985" "" "" "" "3" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 3 affected (3F), unaffected heterozygous parents/relatives3" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam22" "00433986" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam24" "00433987" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam25" "00433988" "" "" "" "3" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 3 affected (3M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam26" "00433989" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam31" "00433991" "" "" "" "3" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam40" "00433993" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "3-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives3" "F;M" "no" "Pakistan" "" "0" "" "" "" "Fam44" "00433994" "" "" "" "2" "" "00006" "{PMID:Wang 2017:27784895}" "4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives3" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam45" "00433995" "" "" "00132143" "1" "" "00006" "{PMID:Letard 2018:29243349}" "sib" "M" "" "Egypt" "" "0" "" "" "" "FamPat12.2" "00433996" "" "" "00132145" "1" "" "00006" "{PMID:Letard 2018:29243349}" "sib" "M" "" "Macau" "" "0" "" "" "Morocco" "FamPat14.2" "00433997" "" "" "00132272" "1" "" "00006" "{PMID:Letard 2018:29243349}" "sib" "M" "" "France" "" "0" "" "" "" "FamPat17.2" "00433998" "" "" "00132281" "1" "" "00006" "{PMID:Letard 2018:29243349}" "sib" "M" "" "Egypt" "" "0" "" "" "" "FamPat23.2" "00433999" "" "" "00132282" "1" "" "00006" "{PMID:Letard 2018:29243349}" "sib" "F" "" "Morocco" "" "0" "" "" "" "FamPat24.2" "00434000" "" "" "00132282" "1" "" "00006" "{PMID:Letard 2018:29243349}" "sib" "M" "" "Morocco" "" "0" "" "" "" "FamPat24.3" "00434001" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "F" "" "" "" "0" "" "" "" "Pat25" "00434002" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "M" "" "Kuwait" "" "0" "" "" "" "Pat26" "00434003" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "M" "" "Kosovo" "" "0" "" "" "" "Pat27" "00434004" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "F" "" "Morocco" "" "0" "" "" "" "Pat28" "00434005" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "M" "" "" "" "0" "" "" "Europe" "Pat29" "00434006" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat30" "00434007" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "M" "" "France" "" "0" "" "" "" "Pat31" "00434008" "" "" "" "2" "" "00006" "{PMID:Letard 2018:29243349}" "2-generation family, 2 affected sibs (2F)" "F" "" "" "" "0" "" "" "Europe" "FamPat32.1" "00434009" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "sib" "F" "" "" "" "0" "" "" "Europe" "FamPat32.2" "00434010" "" "" "" "2" "" "00006" "{PMID:Letard 2018:29243349}" "2-generation family, 2 affected sibs (F, M)" "M" "" "" "" "0" "" "" "Antillean" "FamPat33.1" "00434011" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "sib" "F" "" "" "" "0" "" "" "Antillean" "FamPat33.2" "00434012" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat34" "00434013" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "F" "" "France" "" "0" "" "" "" "Pat35" "00434014" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat36" "00434015" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "F" "" "Morocco" "" "0" "" "" "" "Pat37" "00434016" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat38" "00434017" "" "" "" "1" "" "00006" "{PMID:Letard 2018:29243349}" "" "F" "" "Guyana" "" "0" "" "" "" "Pat39" "00453038" "" "" "" "4" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "4-generation family, 4 affected (2F, 2M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam15" "00453039" "" "" "" "3" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "4-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam16" "00453040" "" "" "" "4" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "5-generation family, 4 affected (F, 3M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam17" "00453041" "" "" "" "5" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "4-generation family, 5 affected (3F, 2M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam18" "00453042" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 2 affected brothers, heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam19" "00453043" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "4-generation family, affected brother/sister, heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam20" "00453044" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam21" "00453045" "" "" "" "3" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "4-generation family, 3 affected brothers, heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam22" "00453046" "" "" "" "3" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 3 affected (F, 2M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam23" "00453047" "" "" "" "1" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "4-generation family, 1 affected, heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam24" "00453048" "" "" "" "4" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "3-generation family, 4 affected (2F, 2M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam25" "00453049" "" "" "" "3" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam26" "00453050" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "3-generation family, 2 affected brothers, heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam27" "00453051" "" "" "" "4" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 4 affected brothers, heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam28" "00453052" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, affected sister/brother, heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam29" "00453053" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 2 affected brothers, heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam30" "00465248" "" "" "" "1" "" "01164" "" "" "M" "yes" "Somalia" "" "0" "" "" "" "325729" "00467274" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH062" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 509 "{{individualid}}" "{{diseaseid}}" "00057250" "02784" "00057267" "02784" "00080943" "02784" "00081001" "02784" "00132087" "02784" "00132088" "02784" "00132089" "02784" "00132090" "02784" "00132091" "02784" "00132121" "02784" "00132122" "02784" "00132123" "02784" "00132143" "02784" "00132144" "02784" "00132145" "02784" "00132146" "02784" "00132271" "02784" "00132272" "02784" "00132276" "02784" "00132277" "02784" "00132279" "02784" "00132281" "02784" "00132282" "02784" "00132284" "02784" "00150141" "00198" "00150142" "00198" "00150143" "00198" "00154976" "00198" "00275641" "00139" "00275642" "00139" "00275643" "00139" "00275644" "00139" "00275656" "00139" "00275657" "00139" "00275658" 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"00465248" "02784" "00467274" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02242, 02784, 04214, 05153, 05421, 05611 ## Count = 410 "{{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}}" "0000044549" "02784" "00057250" "01494" "Familial, autosomal recessive" "31y" "brain magnetic resonance imaging: not available; additional clinical featuresmild intellectual disability, seizures, behavioural problems (brother with intellectual disability and microcephaly)" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000044554" "02784" "00057267" "01494" "Familial, autosomal recessive" "14y" "microcephaly; brain magnetic resonance imaging: simplified gyral pattern; additional clinical featuresseizures, behavioural problems, short stature, obesity, severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000060512" "02784" "00080943" "01758" "Familial, autosomal recessive" "" "Microcephaly 5, primary, autosomal recessive (OMIM:608716)" "" "" "" "" "" "" "" "" "" "" "" "0000060570" "02784" "00081001" "01758" "Familial, autosomal recessive" "" "Microcephaly 5, primary, autosomal recessive (OMIM:608716)" "" "" "" "" "" "" "" "" "" "" "" "0000104277" "02784" "00132087" "02285" "Familial, autosomal recessive" "11.7y" "ultrasound microcephaly second trimester pregnancy; birth OFC (SD-7.5), length (SD-1), weight (SD-1.6); OFC (SD-10), length (SD-5.8), weight (SD-1.3); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain -slight cortical atrophy; hyperactivity" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104278" "02784" "00132088" "02285" "Familial, autosomal recessive" "0.6y" "birth OFC (SD-6.7), length (SD-5.2), weight (SD-3.2); OFC (SD-5.8), length (SD-1), weight (SD-1.4); no epilepsy; MRI brain 0.6y-gyral simplification; thin corpus callosum; subcortical hypersignal on T2-weighted images; hyperpigmentation spot" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104280" "02784" "00132089" "02285" "Familial, autosomal recessive" "1.7y" "birth OFC (SD-3.8), length (SD-1.5), weight (SD-0.9); OFC (SD-7.5), length (SD-2.5), weight (SD-2.8); <18m-no walk; no epilepsy; MRI brain 0.5y-gyral simplification; behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104281" "02784" "00132090" "02285" "Familial, autosomal recessive" "20y" "ultrasound no microcephaly; birth OFC (SD-3.4), length (SD0), weight (SD+1.1); OFC (SD-4.1), length (SD-0.8), weight (SD+0.9); <18m-no walk; speech <3y no first senteence; no epilepsy" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104282" "02784" "00132091" "02285" "Familial, autosomal recessive" "07y" "birth weight (SD-1.5); OFC (SD-10.6), length (SD-2.2), weight (SD-2.5); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain gyral simplification; corpus callosum hypoplasia; congenital hip dislocation" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104314" "02784" "00132121" "02285" "Familial, autosomal recessive" "07y" "birth OFC (SD-6.6), length (SD-2.5), weight (SD-2.2); OFC (SD-9.5), length (SD-0.8), weight (SD-0.8); <4y-epilepsy" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104316" "02784" "00132122" "02285" "Familial, autosomal recessive" "19y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-4.5), length (SD-0.2), weight (SD-0.7); OFC (SD-8.5), length (SD-0.2), weight (SD-0.4); <18m-walk; speech <3y no first senteence; 14y-epilepsy; MRI brain 0.8y-gyral simplification, mild ventricular enlargement; scaphocephaly; behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104336" "02784" "00132123" "02285" "Familial, autosomal recessive" "03y" "birth OFC (SD-2.7), length (SD-0.5), weight (SD-1); OFC (SD-3.4); <18m-walk; no epilepsy; 3y6m-Bayley III DQ95; MRI brain 1.7y-gyral simplification; arachnoid cyst in the posterior fossa; enlarged Virchow-Robin spaces" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104337" "02784" "00132143" "02285" "Familial, autosomal recessive" "07y" "OFC (SD-7.2), length (SD-3.7), weight (SD-1.9); no epilepsy; 7y-Stanford Binet DQ56; MRI brain 7y-gyral simplification, mild ventricular enlargement, thin corpus callosum and brainstem" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104338" "02784" "00132144" "02285" "Familial, autosomal recessive" "5.5y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-4.7), length (SD-2.5), weight (SD-2); OFC (SD-6.4), length (SD-0.6), weight (SD-0.4); <18m-walk; speech <3y no first senteence; no epilepsy; WPPSI-III (5.5): FSIQ = 82*/ VIQ = 75/ PIQ = 90/ GCL = 77; MRI brain 5.5y-white matter hypersignal in T2-weighted images, ventricular enlargement" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104339" "02784" "00132145" "02285" "Familial, autosomal recessive" "09y" "ultrasound microcephaly third trimester pregnancy; OFC (SD-8.5), length (SD+0.5); <18m-walk; speech <3y first senteence; 6m-epilepsy; hyperactivity, enuresis" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104340" "02784" "00132146" "02285" "Familial, autosomal recessive" "5.5y" "ultrasound no microcephaly; birth OFC (SD-4), length (SD-1.3), weight (SD-1.5); OFC (SD-5.5), length (SD+0.7), weight (SD+1.1); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain 0.5y-gyral simplification, enlarged subarachnoid spaces, mega cisterna magna" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104461" "02784" "00132271" "02285" "Familial, autosomal recessive" "01y" "ultrasound microcephaly second and third trimester pregnancy; birth OFC (SD-3.8), length (SD-1), weight (SD+0.2); OFC (SD-6), length (SD2), weight (SD+1); <18m-walk; no epilepsy; behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000104462" "02784" "00132272" "02285" "Familial, autosomal recessive" "17.5y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-8.4), length (SD-2.6), weight (SD-4); OFC (SD-6.9), length (SD-1.5), weight (SD-1.6); <18m-no walk; speech <3y no first senteence; 7y-epilepsy; 4y6m-Borel-Maisonny DQ56; MRI brain 9y-slight left cerebral atrophy; cervicothoracic syringomyelia; spastic hemiplegic cerebral palsy, severe behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000105060" "02784" "00132276" "02285" "Familial, autosomal recessive" "3.3y" "ultrasound no microcephaly; birth OFC (SD-7.2), length (SD-1.1), weight (SD-0.3); OFC (SD-7), length (SD-3), weight (SD-2.2); <18m-no walk; speech <3y no first senteence; 1y6m-epilepsy; MRI brain 0.3y-gyral simplification, thin corpus callosum, pineal cyst, large arachnoid cyst in the posterior fossa; left middle ear hypoplasia, behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000105061" "02784" "00132277" "02285" "Familial, autosomal recessive" "07y" "ultrasound microcephaly second and third trimester pregnancy; birth OFC (SD-4.3), length (SD-0.5), weight (SD0); OFC (SD-5.6), length (SD-1.4), weight (SD-1.7); <18m-walk; speech <3y no first senteence; 6y-epilepsy; 9y3m-DQ34; MRI brain 7y-gyral simplification, polymicrogyria in fronto-insular region" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000105063" "02784" "00132279" "02285" "Familial, autosomal recessive" "45y" "OFC (SD-6.3); <18m-no walk; 7y-epilepsy; MRI brain 45y-gyral simplification; mild ventricular enlargement; mega cisterna magna; hypersignal of the temporal poles in T2-weighted images; thin brainstem; major vermis and cerebellar atrophy; ceroid lipofuscinosis with identified CLN3 mutations (retinitis pigmentosa)" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000105065" "02784" "00132281" "02285" "Familial, autosomal recessive" "04y" "OFC (SD-10.8), length (SD-3.9), weight (SD-3.1); <18m-no walk; no epilepsy; MRI brain 4.3y-thick frontal gyri, gyral simplification; thick corpus callosum; extensive bilateral posterior polymicrogyria; spastic tetraplegia" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000105066" "02784" "00132282" "02285" "Familial, autosomal recessive" "17y" "ultrasound no microcephaly; OFC (SD-4.3), length (SD-2), weight (SD-1.2); <18m-walk; speech <3y no first senteence; no epilepsy" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000105068" "02784" "00132284" "02285" "Familial, autosomal recessive" "3.7y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-3.8), length (SD-1), weight (SD-0.8); OFC (SD-5.6), length (SD+1.5), weight (SD+0.6); <18m-no walk; speech <3y no first senteence; no epilepsy; WPPSI-III (3.7): FSIQ = 60*/ VIQ = 74/ PIQ = 54/ GCL = 85; MRI brain 3.7y-ventricular enlargement, cerebellar hypoplasia, subcortical hypersignal on T2-weighted images, elongated superior cerebellar peduncles" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000122543" "00198" "00150141" "00006" "Familial, autosomal recessive" "" "intellectual diability, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000122544" "00198" "00150142" "00006" "Familial, autosomal recessive" "" "intellectual diability, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000122545" "00198" "00150143" "00006" "Familial, autosomal recessive" "" "intellectual diability, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000127708" "00198" "00154976" "01807" "Unknown" "" "Microcephaly (HP:0000252); Global developmental delay (HP:0001263); Pachygyria (HP:0001302)" "" "" "" "" "" "" "" "" "" "" "" "0000157397" "00198" "00208783" "01164" "Unknown" "" "HP:0000252 (Microcephaly); HP:0001263 (Global developmental delay)" "" "" "" "" "" "" "" "" "" "" "" "0000210252" "00139" "00275641" "00006" "Familial, autosomal recessive" "9y" "OFC 40.5cm; IQ 20, severe intellectual disability (HP:0010864); microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210253" "00139" "00275642" "00006" "Familial, autosomal recessive" "18y" "OFC 42.1cm; IQ 20, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210254" "00139" "00275643" "00006" "Familial, autosomal recessive" "12y" "OFC 38.5cm; IQ 20, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210255" "00139" "00275644" "00006" "Familial, autosomal recessive" "8y" "OFC 34.5cm; IQ 20, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210267" "00139" "00275656" "00006" "Familial, autosomal recessive" "14y" "OFC 43.5cm; IQ 40, moderate intellectual disability (HP:0002342); microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210268" "00139" "00275657" "00006" "Familial, autosomal recessive" "11y" "OFC 43.5cm; IQ 40, moderate intellectual disability (HP:0002342)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210269" "00139" "00275658" "00006" "Familial, autosomal recessive" "13y" "OFC 44.5cm; IQ 50, mild intellectual disability (HP:0001256)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000241780" "00139" "00317996" "00006" "Familial, autosomal recessive" "" "Microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269416" "00198" "00374206" "00006" "Familial, autosomal recessive" "" "Microcephaly, mental retardation, unclear speech, behavioural problems and impaired motor functions" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000269417" "00198" "00374207" "00006" "Familial, autosomal recessive" "" "Features suggestive of primary microcephaly" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000269418" "00198" "00374208" "00006" "Familial, autosomal recessive" "" "Primary microcephaly, speech delay and hyperactive with DQ of 67-74" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000281396" "00139" "00387828" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281413" "00139" "00387845" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281417" "00139" "00387849" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281450" "00139" "00387882" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000294251" "05153" "00401208" "00006" "Familial, autosomal recessive" "" "see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000300210" "04214" "00408082" "00000" "Familial, autosomal recessive" "1y" "One year old male infant born with microcephaly and IUGR and all the growth parameters continued to be below third percentile. He had developmental delay and some distinctive facial features (small nose and low-set ears). His parents were cousins and he had 2 healthy siblings." "" "" "" "" "" "" "" "" "Microcephaly 5, primary, autosomal recessive" "" "" "0000319654" "05611" "00428770" "00006" "Familial, X-linked dominant" "08y" "see paper; ..., speech delay, motor delay, intellectual disability, autistic traits, no behavioral problems, dysmorphism, no genitourinary anomalies; mother ADHD, history of delays" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000323855" "05421" "00433334" "00006" "Familial, autosomal recessive" "3y" "primary microcephaly, pyramidal syndrome; birth OFC (SD-6), weigth (SD1), length (SD-2); OFC (SD-7), weigth median, length median; no epilepsy; DQ42 (3y11m) (Brunet‐Lezine revised scale); MRI simplified pattern posterior, agenesis corpus callosum, enlarged left ventricle, focal parietal cortical dysplasia; birth OFC (SD-6), weigth (SD1), length (SD-2); OFC (SD-7), weigth median, length median; no epilepsy; DQ42 (3y11m) (Brunet‐Lezine revised scale); MRI simplified pattern posterior, agenesis corpus callosum, enlarged left ventricle, focal parietal cortical dysplasia" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323856" "05421" "00433335" "00006" "Familial, autosomal recessive" "9y" "primary microcephaly; OFC (SD-10), weigth (SD-1.5), length (SD-0.5); no epilepsy; OFC (SD-10), weigth (SD-1.5), length (SD-0.5); no epilepsy" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323857" "05421" "00433336" "00006" "Familial, autosomal recessive" "9y6m" "primary microcephaly; birth OFC (SD-3), weigth (SD-0.5), length median; OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; IQ64 (5y10) (WPPSI‐R); birth OFC (SD-3), weigth (SD-0.5), length median; OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; IQ64 (5y10) (WPPSI‐R)" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323858" "05421" "00433337" "00006" "Familial, autosomal recessive" "20y" "primary microcephaly; OFC (SD-8), weigth (SD-1.5), length (SD-1); no epilepsy; IQ30 (20y) (Terman‐Merrill); OFC (SD-8), weigth (SD-1.5), length (SD-1); no epilepsy; IQ30 (20y) (Terman‐Merrill)" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323859" "05421" "00433338" "00006" "Familial, autosomal recessive" "NA" "primary microcephaly, closed fontanelles before birth; birth OFC (SD-2), weigth (SD1), length median; no epilepsy; birth OFC (SD-2), weigth (SD1), length median; no epilepsy" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323860" "05421" "00433339" "00006" "Familial, autosomal recessive" "15y" "primary microcephaly; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323861" "05421" "00433340" "00006" "Familial, autosomal recessive" "10y" "primary microcephaly; OFC (SD-8), weigth (SD-0.5), length (SD-0.5); no epilepsy; moderate/severe intellectual disability; MRI normal; OFC (SD-8), weigth (SD-0.5), length (SD-0.5); no epilepsy; moderate/severe intellectual disability; MRI normal" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323862" "05421" "00433341" "00006" "Familial, autosomal recessive" "14y" "primary microcephaly; birth OFC (SD-3.5), weigth (SD+0.5), length median; OFC (SD-5.5), weigth (SD-1.5), length (SD-1); 3y-generalized, tonic‐clonic, no treatment; IQ50 (6y) (Mc Carthy); MRI simplified pattern; birth OFC (SD-3.5), weigth (SD+0.5), length median; OFC (SD-5.5), weigth (SD-1.5), length (SD-1); 3y-generalized, tonic‐clonic, no treatment; IQ50 (6y) (Mc Carthy); MRI simplified pattern" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323863" "05421" "00433342" "00006" "Familial, autosomal recessive" "4y6m" "primary microcephaly; birth OFC (SD-3.5), weigth (SD-0.5), length (SD-1); OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; SON‐IQ50 (5y) (SON‐R); MRI simplified pattern; birth OFC (SD-3.5), weigth (SD-0.5), length (SD-1); OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; SON‐IQ50 (5y) (SON‐R); MRI simplified pattern" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323864" "05421" "00433343" "00006" "Familial, autosomal recessive" "16y" "primary microcephaly; birth OFC (SD-2.5), weigth (SD-1), length (SD-1); OFC (SD-4), weigth (SD-2.5), length (SD-3.5); no epilepsy; MRI suspicion of dysplasia; birth OFC (SD-2.5), weigth (SD-1), length (SD-1); OFC (SD-4), weigth (SD-2.5), length (SD-3.5); no epilepsy; MRI suspicion of dysplasia" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000323961" "05421" "00433498" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "primary microcephaly" "" "0000323963" "05421" "00433502" "00006" "Familial, autosomal recessive" "" "microcephaly, moderate–severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323965" "05421" "00433508" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323966" "05421" "00433509" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly, anterior predominant pachygyria" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323967" "05421" "00433510" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323968" "05421" "00433511" "00006" "Familial, autosomal recessive" "29y" "moderate-severe intellectual disability, congenital microcephaly [OFC 42.5 cm (-7.8 SD), height 182 cm (75-90th percentile); not able to read, able to write name; MRI brain global reduction brain size, thin brain stem, normal corpus callosum, normal temporal pachygiria; cardiac ultrasound mild tricuspid valve insufficiency" "" "" "" "" "" "" "" "" "MCPH5" "microcephalic intellectual deficit" "" "0000323969" "05421" "00433512" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323970" "05421" "00433516" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323971" "05421" "00433517" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323972" "05421" "00433518" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323973" "05421" "00433519" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323974" "05421" "00433520" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323975" "05421" "00433521" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323976" "05421" "00433522" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323977" "05421" "00433523" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323978" "05421" "00433524" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323979" "05421" "00433525" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323980" "05421" "00433526" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323981" "05421" "00433527" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323982" "05421" "00433528" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323983" "05421" "00433529" "00006" "Familial, autosomal recessive" "" "microcephaly, severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323984" "05421" "00433530" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323985" "05421" "00433531" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323986" "05421" "00433532" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323987" "05421" "00433533" "00006" "Familial, autosomal recessive" "" "microcephaly, severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323988" "05421" "00433534" "00006" "Familial, autosomal recessive" "" "microcephaly, severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323989" "05421" "00433546" "00006" "Familial, autosomal recessive" "08y" "microcephaly; sociable, low frustration tolerance, aggressive tantrums, hyperactive, occasional, self-injurious behavior, 19m-walked; says\r\nmeaningful sentences, can relate experiences, can name few objects; no reading or writing skills; can partly take care of self; sloping forehead, narrow bifrontal diameter" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323990" "05421" "00433547" "00006" "Familial, autosomal recessive" "04y" "microcephaly; shy, drawn; 12m-walk; talks in two-word phrases, can name familiar objects, follows two- to three-step instructions; no reading or writing skills; can partly take care of self; sloping forehead, narrow bifrontal diameter" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323991" "05421" "00433548" "00006" "Familial, autosomal recessive" "08y" "microcephaly; sociable, low frustration tolerance, hyperactive, occasional self-injurious behavior, 18m-walk; talks in short meaningful sentences, can name family members/objects; partly take care\r\nof self, no reading or writing skills; sloping forehead, narrow bifrontal diameter" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323992" "05421" "00433549" "00006" "Familial, autosomal recessive" "06y" "microcephaly; sociable, low frustration tolerance, aggressive tantrums, hyperactive, occasional self-injurious behavior; 9m-walk; no speech; can follow simple instructions such as give or take; no reading or writing skills; can partly take care of self; sloping forehead, narrow bifrontal diameter" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000323993" "05421" "00433550" "00006" "Familial, autosomal recessive" "02y" "microcephaly; sociable, low frustration tolerance, aggressive tantrums, hyperactive, occasional self-injurious behavior; 18m-walk; no speech; can follow simple instructions such as give or take; cannot take care of self; sloping forehead, narrow bifrontal forehead" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324015" "05421" "00433572" "00006" "Familial, autosomal recessive" "" "microcephaly; moderate intellectual disability, sloping forehead" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324016" "05421" "00433573" "00006" "Familial, autosomal recessive" "" "microcephaly; moderate intellectual disability, sliding head, flat occiput" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324017" "05421" "00433574" "00006" "Familial, autosomal recessive" "" "microcephaly; mild intellectual disability; sliding head" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324018" "05421" "00433575" "00006" "Familial, autosomal recessive" "" "microcephaly; mild/moderate intellectual disability, sharply slopping forehead" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324019" "05421" "00433576" "00006" "Familial, autosomal recessive" "" "microcephaly; mild/moderate intellectual disability, sloping forehead" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324020" "05421" "00433577" "00006" "Familial, autosomal recessive" "" "microcephaly; moderate intellectual disability; sharply sloping forehead" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324021" "05421" "00433578" "00006" "Familial, autosomal recessive" "" "microcephaly; moderate intellectual disability; sharply sloping forehead" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324022" "05421" "00433579" "00006" "Familial, autosomal recessive" "" "microcephaly; moderate intellectual disability; sharply sloping forehead" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324023" "05421" "00433580" "00006" "Familial, autosomal recessive" "" "microcephaly; moderate intellectual disability; sharply sloping forehead" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324024" "05421" "00433590" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324025" "05421" "00433591" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324026" "05421" "00433592" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324027" "05421" "00433593" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324028" "05421" "00433594" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324029" "05421" "00433595" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324030" "05421" "00433596" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324031" "05421" "00433597" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324032" "05421" "00433598" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324033" "05421" "00433599" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324034" "05421" "00433600" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324035" "05421" "00433601" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324036" "05421" "00433602" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324037" "05421" "00433603" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324038" "05421" "00433604" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324039" "05421" "00433605" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324040" "05421" "00433606" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324041" "05421" "00433607" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324042" "05421" "00433608" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324043" "05421" "00433609" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324044" "05421" "00433610" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324045" "05421" "00433611" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324046" "05421" "00433612" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324047" "05421" "00433613" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324048" "05421" "00433614" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324049" "05421" "00433615" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324050" "05421" "00433616" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324051" "05421" "00433617" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324052" "05421" "00433618" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324053" "05421" "00433619" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324054" "05421" "00433620" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324055" "05421" "00433621" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324056" "05421" "00433622" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324057" "05421" "00433623" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324058" "05421" "00433624" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324059" "05421" "00433625" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324060" "05421" "00433626" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324061" "05421" "00433627" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324062" "05421" "00433628" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324063" "05421" "00433629" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324064" "05421" "00433630" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324065" "05421" "00433631" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324066" "05421" "00433632" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324067" "05421" "00433633" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324068" "05421" "00433634" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324069" "05421" "00433635" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324070" "05421" "00433636" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324071" "05421" "00433637" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324072" "05421" "00433638" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324073" "05421" "00433639" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324074" "05421" "00433640" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324075" "05421" "00433641" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324106" "05421" "00433684" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324107" "05421" "00433685" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324108" "05421" "00433686" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324109" "05421" "00433687" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324110" "05421" "00433688" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324111" "05421" "00433689" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324112" "05421" "00433690" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324113" "05421" "00433691" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324114" "05421" "00433692" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324115" "05421" "00433693" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324116" "05421" "00433694" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324117" "05421" "00433695" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324118" "05421" "00433696" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324119" "05421" "00433697" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324120" "05421" "00433698" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324121" "05421" "00433699" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324122" "05421" "00433700" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324123" "05421" "00433701" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324124" "05421" "00433702" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324125" "05421" "00433703" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324126" "05421" "00433704" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324127" "05421" "00433705" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324128" "05421" "00433706" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324129" "05421" "00433707" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324130" "05421" "00433708" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324131" "05421" "00433709" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324132" "05421" "00433710" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324133" "05421" "00433711" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324134" "05421" "00433712" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324135" "05421" "00433713" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324136" "05421" "00433714" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324137" "05421" "00433715" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324138" "05421" "00433716" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324139" "05421" "00433717" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324140" "05421" "00433718" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324141" "05421" "00433719" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324142" "05421" "00433720" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324151" "05421" "00433729" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -8SD)" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324152" "05421" "00433730" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -9 to -11SD); short stature, congenital hearing loss" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324153" "05421" "00433731" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -9 to -11SD); short stature" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324154" "05421" "00433732" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -6.5 to -8SD); short stature" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324155" "05421" "00433733" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -8 to -9SD)" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324156" "05421" "00433734" "00006" "Familial, autosomal recessive" "" "moderate intellectual disability; microcephaly (OFC -5.5 to -8SD)" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324157" "05421" "00433735" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -7 to -8SD); facial dysmorphism (broad nasal bridge, long philtrum, micrognathia, thick lower lip); intra-uterine growth retardation; wideness between first/second toes" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324158" "05421" "00433736" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -8 to -10SD)" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324159" "05421" "00433737" "00006" "Familial, autosomal recessive" "" "moderate intellectual disability; microcephaly (OFC -5.5 to -11SD)" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324160" "05421" "00433738" "00006" "Familial, autosomal recessive" "" "moderate intellectual disability; microcephaly (OFC -9SD)" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324161" "05421" "00433739" "00006" "Familial, autosomal recessive" "" "mild/moderate intellectual disability; microcephaly (OFC -9 to -11SD)" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324163" "05421" "00433741" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324164" "05421" "00433742" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324165" "05421" "00433743" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324166" "05421" "00433744" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324167" "05421" "00433745" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324168" "05421" "00433746" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324169" "05421" "00433747" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324170" "05421" "00433748" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324171" "05421" "00433749" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324172" "05421" "00433750" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324173" "05421" "00433751" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324174" "05421" "00433752" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324184" "05421" "00433762" "00006" "Familial, autosomal recessive" "" "microcephaly; speech not understandable, no self-care skills, self-injurious, aggressive behavior, no epilepsy" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324185" "05421" "00433763" "00006" "Familial, autosomal recessive" "" "microcephaly; social behavior, no seizures" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324186" "05421" "00433764" "00006" "Familial, autosomal recessive" "" "microcephaly; aggressive behavior, no seizures" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324187" "05421" "00433765" "00006" "Familial, autosomal recessive" "" "microcephaly; speaking problems, aggressive behavior, can do self-care partly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324188" "05421" "00433766" "00006" "Familial, autosomal recessive" "" "microcephaly; aggressive behavior, can do self-care partly, cannot read and write" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324189" "05421" "00433767" "00006" "Familial, autosomal recessive" "" "microcephaly; aggressive behavior" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324190" "05421" "00433768" "00006" "Familial, autosomal recessive" "" "microcephaly; high frustration level, unable to read/write" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324191" "05421" "00433769" "00006" "Familial, autosomal recessive" "" "microcephaly; speech is not understandable, no history of seizures/epilepsy" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324192" "05421" "00433770" "00006" "Familial, autosomal recessive" "" "microcephaly; self-injurious, aggressive behavior, no seizures" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324193" "05421" "00433771" "00006" "Familial, autosomal recessive" "" "microcephaly; aggressive behavior" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324194" "05421" "00433772" "00006" "Familial, autosomal recessive" "" "microcephaly; high frustration level, no history of seizures" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324195" "05421" "00433773" "00006" "Familial, autosomal recessive" "" "microcephaly; speech understandable, one patient can read/write, high frustration level, no epileptic seizure" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324196" "05421" "00433774" "00006" "Familial, autosomal recessive" "" "microcephaly; can speak few words, social behavior, no seizures" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324197" "05421" "00433775" "00006" "Familial, autosomal recessive" "" "microcephaly; can do self-care to some extent, frustration level high" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324198" "05421" "00433776" "00006" "Familial, autosomal recessive" "" "microcephaly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324199" "05421" "00433777" "00006" "Familial, autosomal recessive" "" "microcephaly; high frustration level, no self-care skills, no history of seizures" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324200" "05421" "00433778" "00006" "Familial, autosomal recessive" "" "microcephaly; aggressive, cannot read, can do self-care partly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324204" "05421" "00433783" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324205" "05421" "00433784" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324206" "05421" "00433785" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324207" "05421" "00433786" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324208" "05421" "00433787" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324209" "05421" "00433788" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324210" "05421" "00433789" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324211" "05421" "00433790" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324212" "05421" "00433791" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324213" "05421" "00433792" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324214" "05421" "00433793" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324215" "05421" "00433794" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324216" "05421" "00433795" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324217" "05421" "00433796" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324218" "05421" "00433797" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324219" "05421" "00433798" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324220" "05421" "00433799" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324221" "05421" "00433800" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324222" "05421" "00433801" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324223" "05421" "00433802" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324224" "05421" "00433803" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324225" "05421" "00433804" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324226" "05421" "00433805" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324227" "05421" "00433806" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324228" "05421" "00433807" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324229" "05421" "00433808" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324230" "05421" "00433809" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324231" "05421" "00433810" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324232" "05421" "00433811" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324233" "05421" "00433812" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324234" "05421" "00433813" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324235" "05421" "00433814" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324236" "05421" "00433815" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324237" "05421" "00433816" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324238" "05421" "00433817" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324239" "05421" "00433818" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324240" "05421" "00433819" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324241" "05421" "00433820" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324242" "05421" "00433821" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324258" "05421" "00433880" "00006" "Familial, autosomal recessive" "28y" "microcephaly, OFC 43cm (SD-9,48); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324259" "05421" "00433881" "00006" "Familial, autosomal recessive" "21y" "microcephaly, OFC 37cm (SD-13,93); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324260" "05421" "00433882" "00006" "Familial, autosomal recessive" "38y" "microcephaly, OFC 41cm (SD-9,4); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324261" "05421" "00433883" "00006" "Familial, autosomal recessive" "16y" "microcephaly, OFC 38cm (SD-14,5); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324262" "05421" "00433884" "00006" "Familial, autosomal recessive" "6y" "microcephaly, OFC 36cm (SD-10,33); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324263" "05421" "00433885" "00006" "Familial, autosomal recessive" "7y" "microcephaly, OFC 41cm (SD-7,33); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324264" "05421" "00433886" "00006" "Familial, autosomal recessive" "13y" "microcephaly, OFC 48cm (SD-3,79); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324265" "05421" "00433887" "00006" "Familial, autosomal recessive" "3y" "microcephaly, OFC 33cm (SD-15,45); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324267" "05421" "00433889" "00006" "Familial, autosomal recessive" "35y" "microcephaly, OFC 49.5cm (SD-3,73); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324268" "05421" "00433890" "00006" "Familial, autosomal recessive" "30y" "microcephaly, OFC 48.26cm (SD-5,59); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324269" "05421" "00433891" "00006" "Familial, autosomal recessive" "10y" "microcephaly, OFC 40.6cm (SD-11,26); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324270" "05421" "00433892" "00006" "Familial, autosomal recessive" "18y" "microcephaly, OFC 43.18cm (SD-9,35); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324271" "05421" "00433893" "00006" "Familial, autosomal recessive" "14y" "microcephaly, OFC 41.91cm (SD-9,76); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324272" "05421" "00433894" "00006" "Familial, autosomal recessive" "20y" "microcephaly, OFC 40.64cm (SD-9,64); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324276" "05421" "00433898" "00006" "Familial, autosomal recessive" "16y" "microcephaly, OFC 49.53cm (SD-4,89); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324277" "05421" "00433899" "00006" "Familial, autosomal recessive" "10y" "microcephaly, OFC 41.91cm (SD-6,96); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324278" "05421" "00433900" "00006" "Familial, autosomal recessive" "13y" "microcephaly, OFC 45.97cm (SD-5,24); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324279" "05421" "00433901" "00006" "Familial, autosomal recessive" "15y" "microcephaly, OFC 40.64cm (SD-9,57); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324280" "05421" "00433902" "00006" "Familial, autosomal recessive" "16y" "microcephaly, OFC 41.91cm (SD-11,24); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324281" "05421" "00433903" "00006" "Familial, autosomal recessive" "14y" "microcephaly, OFC 41.4cm (SD-8,93); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324282" "05421" "00433904" "00006" "Familial, autosomal recessive" "14y" "microcephaly, OFC 47.24cm (SD-5,66); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324283" "05421" "00433905" "00006" "Familial, autosomal recessive" "15y" "microcephaly, OFC 45.72cm (SD-6,28); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324284" "05421" "00433906" "00006" "Familial, autosomal recessive" "16y" "microcephaly, OFC 47.49cm (SD-5,47); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324285" "05421" "00433907" "00006" "Familial, autosomal recessive" "4y" "microcephaly, OFC 40.64cm (SD-6,39); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324286" "05421" "00433908" "00006" "Familial, autosomal recessive" "3y" "microcephaly, OFC 43.18cm (SD-4,01); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324287" "05421" "00433909" "00006" "Familial, autosomal recessive" "8y" "microcephaly, OFC 43.18cm (SD-5,88); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324288" "05421" "00433910" "00006" "Familial, autosomal recessive" "50y" "microcephaly, OFC 40.64cm (SD-11,23); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324289" "05421" "00433911" "00006" "Familial, autosomal recessive" "10y" "microcephaly, OFC 45.72cm (SD-4,7); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324290" "05421" "00433912" "00006" "Familial, autosomal recessive" "12y" "microcephaly, OFC 48.26cm (SD-3,09); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324291" "05421" "00433913" "00006" "Familial, autosomal recessive" "25y" "microcephaly, OFC 49.53cm (SD-4,64); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324292" "05421" "00433914" "00006" "Familial, autosomal recessive" "30y" "microcephaly, OFC 45.72cm (SD-7,47); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324293" "05421" "00433915" "00006" "Familial, autosomal recessive" "16y" "microcephaly, OFC 40.64cm (SD-10,74); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324294" "05421" "00433916" "00006" "Familial, autosomal recessive" "10y" "microcephaly, OFC 45.72cm (SD-4,7); severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324295" "05421" "00433917" "00006" "Familial, autosomal recessive" "7y" "microcephaly, OFC 45.72cm (SD-3,59); very mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324296" "05421" "00433918" "00006" "Familial, autosomal recessive" "11y" "microcephaly, OFC 42.62cm (SD-6,45); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324297" "05421" "00433919" "00006" "Familial, autosomal recessive" "2y" "microcephaly, OFC 38.1cm (SD-7,23); mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324298" "05421" "00433920" "00006" "Familial, autosomal recessive" "" "microcephaly" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000324299" "05421" "00433921" "00006" "Familial, autosomal recessive" "1.08y" "low birth weight; weight SD-2.6 , height SD-1.6 , OFC SD-8.8 ; severe intellectual disability DQ/IQ29; hyperactive, self-injurious, and aggressive" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324300" "05421" "00433922" "00006" "Familial, autosomal recessive" "9y" "normal birth weight; weight SD-0.6 , height SD-3.5 , OFC SD-9.3 ; mild intellectual disability DQ/IQ65; can speak sentences, read, write, social behaviorshort stature" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324301" "05421" "00433923" "00006" "Familial, autosomal recessive" "7y" "normal birth weight; weight SD-1.5 , height SD-3.1 , OFC SD-10.7 ; mild intellectual disability DQ/IQ67; can speak sentences, read, write, social behaviorshort stature" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324302" "05421" "00433924" "00006" "Familial, autosomal recessive" "13y" "normal birth weight; weight SD-2.2 , height SD-4, OFC SD-9.3 ; moderate intellectual disability DQ/IQ40; speech is not understandable, hyperactiveshort stature" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324303" "05421" "00433925" "00006" "Familial, autosomal recessive" "6y" "low birth weight; weight normal, height SD-1, OFC SD-3.6 ; mild intellectual disability DQ/IQ63; can speak sentences, write, social behavior" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324304" "05421" "00433926" "00006" "Familial, autosomal recessive" "1.58y" "normal birth weight; weight SD-1.4 , height SD-1, OFC SD-6.8 ; moderate intellectual disability DQ/IQ49; hyperactiveoculo-cutaneous albinism" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324305" "05421" "00433927" "00006" "Familial, autosomal recessive" "5.5y" "weight SD-2, height SD-2.2 , OFC SD-7; moderate intellectual disability DQ/IQ50; hyperactive" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324306" "05421" "00433928" "00006" "Familial, autosomal recessive" "11y" "normal birth weight; weight SD-0.7, height SD-1.4, microcephaly OFC SD-7.6; moderate intellectual disability DQ/IQ45; speech is not understandable, cannot do self-caremirror image hand movements; simplified gyral pattern" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324307" "05421" "00433929" "00006" "Familial, autosomal recessive" "6.2y" "normal birth weight; weight SD-2.2 , height SD-2, OFC SD-11.8 ; mild intellectual disability DQ/IQ55; speech is not understandable, cannot do self-care" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324308" "05421" "00433930" "00006" "Familial, autosomal recessive" "0.6y" "very low birth weight; weight SD-1.5 , height SD-3.8 , OFC SD-6; moderate intellectual disability DQ/IQ50" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324309" "05421" "00433931" "00006" "Familial, autosomal recessive" "0.75y" "low birth weight; weight SD-3.7 , height SD-3.1 , OFC SD-10.5 ; severe intellectual disability DQ/IQ30; self-injurious and aggressiveseizures, growth retardation" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324310" "05421" "00433932" "00006" "Familial, autosomal recessive" "4y" "low birth weight; weight SD-3.13 , height SD-4.04 , OFC SD-9.92 ; mild intellectual disability DQ/IQ52; speech is not understandablegrowth retardation" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324311" "05421" "00433933" "00006" "Familial, autosomal recessive" "14y" "weight SD-1.43 , height SD-3.43 , OFC SD-4.26 ; moderate intellectual disability DQ/IQ35; speech is not understandableseizures, porencephalic cyst, short stature" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324312" "05421" "00433934" "00006" "Familial, autosomal recessive" "2.5y" "3y-died; weight SD-3.2 , height SD-3.8 , OFC SD-10.7 ; moderate intellectual disability DQ/IQ50; hyperactivegrowth retardation" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324313" "05421" "00433935" "00006" "Familial, autosomal recessive" "17y" "very low birth weight; weight SD-1.87 , height SD-2.2 , OFC SD-12.51 ; moderate intellectual disability DQ/IQ40; patient can speak few words, social behavior, can do self-care partly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324314" "05421" "00433936" "00006" "Familial, autosomal recessive" "3y" "normal birth weight; weight SD-0.8 , height SD-0.2 , OFC SD-6.8 ; severe intellectual disability DQ/IQ32; hyperactive" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324315" "05421" "00433937" "00006" "Familial, autosomal recessive" "4.16y" "low birth weight; weight SD-1.8 , height SD-2.4 , OFC SD-10.9 ; severe intellectual disability DQ/IQ34; hyperactive, aggressive, delayed speech" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324316" "05421" "00433938" "00006" "Familial, autosomal recessive" "2.58y" "normal birth weight; weight SD-1.4 , height SD-1.6 , OFC SD-8; mild intellectual disability DQ/IQ53" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324317" "05421" "00433939" "00006" "Familial, autosomal recessive" "3.75y" "normal birth weight; weight SD-0.7 , height SD-2.5 , OFC SD-9.7 ; severe intellectual disability DQ/IQ33; hyperactiveshort stature" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324318" "05421" "00433940" "00006" "Familial, autosomal recessive" "9y" "weight SD-0.9 , height SD-0.2 , OFC SD-10.1 ; moderate intellectual disability DQ/IQ50; patient can speak few words, social behavior, can do self-care partly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324319" "05421" "00433941" "00006" "Familial, autosomal recessive" "4y" "weight SD-3, height SD-2.6 , OFC SD-11; mild intellectual disability DQ/IQ55; speech is not understandable, hyperactivegrowth retardation" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324320" "05421" "00433942" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9 to -10; aggressive behavior, able to speak few words, no seizure, normal height, no digital and limb malformations, normal motor skills, such as sitting, standing, and walking" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324321" "05421" "00433943" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-8 to -10; unable to speak clearly, no self-care ability, history of seizure in one patient, normal motor skills" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324322" "05421" "00433944" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-7 to -10; no self-care ability, severe intellectual disability, no seizure, normal motor skills, like sitting, standing, and walking, no limb and digital malformations" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324323" "05421" "00433945" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-8 to -10; no self-care skills, no seizure and aggressive behavior, normal motor skills" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324324" "05421" "00433946" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-11 to -13; mild mental retardation, no self-care skills, no epilepsy, normal height, no digital and limb malformations" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324326" "05421" "00433948" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-8 to -10; severe intellectual disability, no self-care skills, normal motor skills, like sitting, standing, and walking, no epilepsy, no digital and limb malformations" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324328" "05421" "00433950" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-7 to -10; friendly behavior, mild mental retardation, self care skills, no epileptic seizure, normal motor skills, normal hearing and vision, MRI MCP123-4 showed severe reduction cortical size" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324331" "05421" "00433953" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-7 to -8; epileptic seizures in one patient, high frustration level, no self care skills, not able to speak, normal motor skills, normal height" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324332" "05421" "00433954" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9; severe intellectual disability, high frustration level, no self care skills, only able to speak few words and can make short sentences, no seizures, normal motor skills, normal height" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324333" "05421" "00433955" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-4 to -8; unable to speak clearly, no self-care ability, no history of seizure, severe intellectual disability, normal motor skills, normal height" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324334" "05421" "00433956" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9; severe intellectual disability, high frustration level, no self care skills, not able to speak, no seizures, normal motor skills, normal height, no digital and limb malformations" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324335" "05421" "00433957" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-7 to -12; self caring skills, not able to speak complete sentences, mild intellectual disability, epileptic seizures in one patient, normal motor skills, normal height, neuroimaging MCP137-5 demonstrated reduced cerebral cortex" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324336" "05421" "00433958" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9 to -12; epileptic seizures in both patients, poor self caring skills, high frustration level, profound intellectual disability , normal motor skills, normal height" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324337" "05421" "00433959" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-10 to -14; patients with high frustration level, no history of seizures, speech understandable, two patients have low eye sight, normal motor skills, normal height, normal hearing" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324338" "05421" "00433960" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-8 to -12; epileptic seizure in both patients, poor self caring skills, high frustration level, not able to speak complete sentences, severe intellectual disability, normal motor skills, normal height" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324339" "05421" "00433961" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-7 to -8; epileptic seizure in two patients, poor self caring skills, not able to speak complete sentences, severe intellectual disability, normal motor skills, normal height, normal hearing and vision" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324340" "05421" "00433962" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9 to -10; unable to speak clearly, poor self care ability, no history of seizures, severe intellectual disability, normal motor skills, such as sitting, standing, and walking, normal height, normal hearing and vision" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324341" "05421" "00433963" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-7 to-9; sever intellectual disability, unable to speak clearly, mild self care skills, no epilepsy, no digital and limb malformations, normal motor skills, normal height, normal hearing and vision" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324342" "05421" "00433964" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-5 to -9; unable to speak clearly, low self care skills, no history of seizures, severe intellectual disability, normal motor skills, normal height, normal hearing and vision" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324343" "05421" "00433965" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9 to -10; patients with high frustration level, no history of seizures, not able to speak, severe intellectual disability, normal motor skills, normal height, normal hearing and vision, no digital and limb malformations" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324344" "05421" "00433966" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9 to -10; unable to speak clearly, poor self care ability, severe intellectual disability, normal motor skills, normal height, normal hearing and vision" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324345" "05421" "00433967" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-8 to -9; epileptic seizure in two patients, not able to speak, intellectual disability, normal motor skills, normal height, normal hearing and vision" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324346" "05421" "00433968" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-10 to -13; friendly behavior, partial self-caring ability, no history of epileptic seizures, normal motor skills, normal height, normal hearing and vision" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324347" "05421" "00433969" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-8 to -9; partial self-caring ability, no epileptic seizures except MCP178-4, normal motor skills, such as sitting, standing, and walking, normal height, normal hearing and vision" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324348" "05421" "00433970" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9; low self-caring ability, no epileptic seizures, aggressive, normal motor skills, normal height, normal hearing and vision, no digital and limb malformations" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324349" "05421" "00433971" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-10 to -13; low self caring skills, no epileptic seizures and aggressive, MCP190-5 pre-axial polydactyly right hand" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324350" "05421" "00433972" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9; profound intellectual disability and no epileptic seizures, normal vision and hearing" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324352" "05421" "00433974" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-9; moderate intellectual disability; epilepsy" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324353" "05421" "00433975" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-8 to -5; mild intellectual disability; seizure" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324354" "05421" "00433976" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-13; moderate intellectual disability; epilepsy, seizure" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324355" "05421" "00433977" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-7 to -4; mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324356" "05421" "00433978" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-13 to -9; mild intellectual disability; epilepsy, seizure" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324357" "05421" "00433979" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-7 to -6; mild intellectual disability; club hand and foot" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324358" "05421" "00433980" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-7; mild intellectual disability; epilepsy, seizure" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324359" "05421" "00433981" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-6; mild intellectual disability; epilepsy, seizure" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324360" "05421" "00433982" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-12; severe intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324362" "05421" "00433984" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-10; moderate intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324363" "05421" "00433985" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-10 to -6; mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324364" "05421" "00433986" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-14 to -12; severe intellectual disability; epilepsy, seizure" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324365" "05421" "00433987" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-12; mild intellectual disability; epilepsy, seizure" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324366" "05421" "00433988" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-14 to -13; mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324367" "05421" "00433989" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-14; mild intellectual disability; strabismus" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324369" "05421" "00433991" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-8; severe intellectual disability; strabismus" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324371" "05421" "00433993" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-8; mild intellectual disability" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324372" "05421" "00433994" "00006" "Familial, autosomal recessive" "" "microcephaly, OFC SD-12; severe intellectual disability; strabismus" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324373" "02242" "00433928" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "XLI" "ichthyosis" "" "0000324374" "05421" "00433995" "00006" "Familial, autosomal recessive" "0.2y" "OFC (SD-4.8), length (SD+2.5), weight (SD+0.2); no epilepsy; MRI brain 0.3y-gyral simplification, ventricular and pericerebral space enlargement; thin corpus callosum and brainstem; myelination delay in T2-weighted images" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324375" "05421" "00433996" "00006" "Familial, autosomal recessive" "13y" "ultrasound microcephaly third trimester pregnancy; OFC (SD-6.5), length (SD+1.7); <18m-walk; speech <3y first senteence; 6m-epilepsy; enuresis" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324376" "05421" "00433997" "00006" "Familial, autosomal recessive" "17y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-6.6), length (SD-2.5), weight (SD-3.2); OFC (SD-7.2), length (SD-0.4), weight (SD-1); <18m-no walk; speech <3y no first senteence; no epilepsy; 4y5m-Borel-Maisonny DQ68" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324377" "05421" "00433998" "00006" "Familial, autosomal recessive" "6y" "OFC (SD-8.4), length (SD-1.1), weight (SD-0.6); speech <3y no first senteence; no epilepsy; DQ36; MRI brain 6.5y-thick frontal gyri, gyral simplification; thick corpus callosum. hypersignal of temporal poles in T2-weighted images; behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324378" "05421" "00433999" "00006" "Familial, autosomal recessive" "9y" "ultrasound microcephaly third trimester pregnancy; OFC (SD-6.2), length (SD-1.7), weight (SD-1.9); <18m-walk; speech <3y no first senteence; no epilepsy" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324379" "05421" "00434000" "00006" "Familial, autosomal recessive" "7y" "ultrasound microcephaly third trimester pregnancy; birth weight (SD-4.3); OFC (SD-8.7), weight (SD-2); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain pachygyria; vertical nystagmus" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324380" "05421" "00434001" "00006" "Familial, autosomal recessive" "0.6y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-7.6), weight (SD-1.7); OFC (SD-9.5), length (SD-1.2), weight (SD-2); no epilepsy; MRI brain 0.6y-gyral simplification; hypertonia, hyperpigmentation spot" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324381" "05421" "00434002" "00006" "Familial, autosomal recessive" "2.7y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-7), length (SD-4.5), weight (SD-3); OFC (SD-10.7), weight (SD-1.6); <18m-no walk; no epilepsy; MRI brain 3y-gyral simplification; anterior pachygyria; mega cisterna magna; short splenium of the corpus callosum and cerebellar hypoplasia; relatively large mammillary bodies; behavioral disorders, pyramidal syndrome, oral dyspraxia" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324382" "05421" "00434003" "00006" "Familial, autosomal recessive" "13y" "ultrasound no microcephaly; birth OFC (SD-4.7), length (SD0), weight (SD-1.3); OFC (SD-9.7), length (SD-1.6), weight (SD-1.3); <18m-no walk; speech <3y no first senteence; 1y6m-epilepsy; MRI brain pronounced gyral simplification (microlissencephaly?), corpus callosum hypoplasia; hypo/hyperpigmentation spots, behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324383" "05421" "00434004" "00006" "Familial, autosomal recessive" "5y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-2.2), length (SD-0.8), weight (SD+1.5); OFC (SD-4.9), length (SD-0.3), weight (SD-0.3); <18m-walk; speech <3y no first senteence; no epilepsy; MRI brain 2y-gyral simplification; behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324384" "05421" "00434005" "00006" "Familial, autosomal recessive" "3y" "ultrasound no microcephaly; OFC (SD-7.6), length (SD0), weight (SD-0.8); <18m-walk; speech <3y no first senteence; no epilepsy; behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324385" "05421" "00434006" "00006" "Familial, autosomal recessive" "3.5y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-5.6), length (SD-2), weight (SD-1.8); OFC (SD-8.8), length (SD-1.2), weight (SD-1.2); <18m-walk; speech <3y no first senteence; no epilepsy; 3y6m-WPPSI-III FSIQ=55 VIQ=62 PIQ=57 GCL=65; MRI brain 2.6y-gyral simplification; hypo/hyperpigmentation spots" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324386" "05421" "00434007" "00006" "Familial, autosomal recessive" "2.3y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-3.8), length (SD-0.5), weight (SD-0.1); OFC (SD-6.2), length (SD-0.9), weight (SD-0.2); <18m-walk; no epilepsy; MRI brain 0.1y-gyral simplification, thin corpus callosum; hypotonia, behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324387" "05421" "00434008" "00006" "Familial, autosomal recessive" "21.5y" "ultrasound no microcephaly; birth OFC (SD-4), length (SD-1.9), weight (SD-1.8); OFC (SD-6.2), length (SD-1.9), weight (SD-0.3); <18m-walk; speech <3y no first senteence; no epilepsy; 12y-FSIQ70; MRI brain 9y-gyral simplification; vermis hypoplasia; scoliosis, hyperpigmentation spot, inverted nipples" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324388" "05421" "00434009" "00006" "Familial, autosomal recessive" "23.8y" "ultrasound no microcephaly; birth OFC (SD-2.2), length (SD-2.4), weight (SD-0.6); OFC (SD-5.8), length (SD-1.1), weight (SD-0.4); <18m-walk; speech <3y no first senteence; no epilepsy; 10y-FSIQ70; MRI brain 1y-slight cortical atrophy; scoliosis, hypopigmentation spot, inverted nipples" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324389" "05421" "00434010" "00006" "Familial, autosomal recessive" "2.7y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-5.6), length (SD-2.5), weight (SD-2.4); OFC (SD-7.8), length (SD-0.2), weight (SD-1.1); <18m-walk; no epilepsy; MRI brain 0.2y-gyral simplification; abnormality of helix" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324390" "05421" "00434011" "00006" "Familial, autosomal recessive" "0.2y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-4.9), length (SD-1.9), weight (SD-0.9); OFC (SD-5.3), length (SD+0.7), weight (SD-0.4); no epilepsy; MRI brain 0.2y-gyral simplification; thin corpus callosum; abnormality of helix" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324391" "05421" "00434012" "00006" "Familial, autosomal recessive" "11.3y" "birth OFC (SD-2.9), length (SD-1), weight (SD-1.1); OFC (SD-3.9), length (SD+0.3), weight (SD+0.1); <18m-walk; speech <3y no first senteence; no epilepsy; WPPSI-IV (7.2): FSIQ = 58*/ VCI = 86/ FRI = 63/ WMI = 56/ PSI = 66; MRI brain 5y-gyral simplification; enlarged Virchow-Robin spaces; mega cisterna magna; behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324392" "05421" "00434013" "00006" "Familial, autosomal recessive" "1.4y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-3.1), length (SD-0.8), weight (SD+0.1); OFC (SD-6.3), length (SD-0.4), weight (SD-1); no epilepsy; MRI brain 0.3y-gyral simplification; thin corpus callosum; enlarged Virchow-Robin spaces; behavioral disorders" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324393" "05421" "00434014" "00006" "Familial, autosomal recessive" "16y" "birth OFC (SD-4.3), length (SD-1.3), weight (SD-1.3); OFC (SD-4.3), length (SD-3.8), weight (SD-2.5); <18m-walk; speech <3y first senteence; no epilepsy; MRI brain 13.8y-hypersignal of the thalamus in T2-weighted images" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324394" "05421" "00434015" "00006" "Familial, autosomal recessive" "13y" "ultrasound no microcephaly; birth OFC (SD-4), length (SD-0.8), weight (SD-0.9); OFC (SD-6.5), length (SD-1.5), weight (SD-1); <18m-no walk; speech <3y no first senteence; paroxysmal events; MRI brain 11y-gyral simplification, scaphocephaly; enlarged Virchow-Robin spaces, mild enlarged ventricles; scoliosis" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324395" "05421" "00434016" "00006" "Familial, autosomal recessive" "3.6y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-5.2), length (SD-1.5), weight (SD-0.8); OFC (SD-7.3), length (SD-1.7), weight (SD-2.5); <18m-walk; speech <3y no first senteence; no epilepsy; MRI brain fetal-gyral simplification" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324396" "05421" "00434017" "00006" "Familial, autosomal recessive" "7.4y" "ultrasound microcephaly third trimester pregnancy; birth OFC (SD-3.1), length (SD-2.2), weight (SD+0.1); OFC (SD-7.3), length (SD-0.8), weight (SD-0.5); <18m-walk; speech <3y no first senteence; no epilepsy; coarse facial features, retrognathia" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000341683" "05611" "00453038" "03566" "Familial, autosomal recessive" "" "variable head circumference, cognitive impairment, aggressive behaviours and other related behavioural problems; delayed language development; microcephaly" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341684" "05611" "00453039" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341685" "05611" "00453040" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341686" "05611" "00453041" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341687" "05611" "00453042" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341688" "05611" "00453043" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341689" "05611" "00453044" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341690" "05611" "00453045" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341691" "05611" "00453046" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341692" "05611" "00453047" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341693" "05611" "00453048" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341694" "05611" "00453049" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341695" "05611" "00453050" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341696" "05611" "00453051" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341697" "05611" "00453052" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000341698" "05611" "00453053" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCPH5" "neurodevelopmental disorder" "" "0000350783" "02784" "00465248" "01164" "Familial, autosomal recessive" "00y02m" "Moderate to late preterm birth, Short chin, Small for gestational age, Microcephaly, Inguinal hernia, Abnormality of temperature regulation" "" "" "" "" "" "" "" "" "" "" "" "0000352481" "00198" "00467274" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 510 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000057212" "00057250" "1" "01494" "01494" "2016-01-21 12:49:32" "01494" "2016-01-21 13:17:04" "SEQ-NG-I" "DNA" "DNA isolated from Blood" "" "0000057228" "00057267" "1" "01494" "01494" "2016-01-21 16:17:11" "01494" "2016-01-25 10:03:09" "SEQ-NG-I" "DNA" "DNA isolated from Blood" "" "0000081055" "00080943" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081113" "00081001" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000132925" "00132087" "1" "02285" "02285" "2017-10-23 13:40:08" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000132926" "00132088" "1" "02285" "02285" "2017-10-23 14:06:31" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000132927" "00132089" "1" "02285" "02285" "2017-10-23 14:22:09" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000132928" "00132090" "1" "02285" "02285" "2017-10-23 14:34:56" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "" "0000132929" "00132091" "1" "02285" "02285" "2017-10-23 14:42:23" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000132958" "00132121" "1" "02285" "02285" "2017-10-24 08:19:30" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000132959" "00132122" "1" "02285" "02285" "2017-10-24 08:27:42" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000132979" "00132123" "1" "02285" "02285" "2017-10-24 08:38:46" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000132980" "00132143" "1" "02285" "02285" "2017-10-24 08:46:34" "" "" "SEQ-NG" "DNA" ">Peripheral blood leucocytes" "gene panel" "0000132981" "00132144" "1" "02285" "02285" "2017-10-24 08:52:34" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000132982" "00132145" "1" "02285" "02285" "2017-10-24 09:09:50" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000132983" "00132146" "1" "02285" "02285" "2017-10-24 09:15:18" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000133108" "00132271" "1" "02285" "02285" "2017-10-24 14:36:53" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "panel gene" "0000133109" "00132272" "1" "02285" "02285" "2017-10-24 14:51:01" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000133113" "00132276" "1" "02285" "02285" "2017-10-25 08:37:47" "" "" "SEQ" "DNA" "Peripheral blood leucocytes" "" "0000133114" "00132277" "1" "02285" "02285" "2017-10-25 08:44:16" "" "" "SEQ" "DNA" "Peripheral blood leucocytes" "" "0000133116" "00132279" "1" "02285" "02285" "2017-10-25 09:01:28" "" "" "SEQ" "DNA" "Periphral blood leucocytes" "" "0000133118" "00132281" "1" "02285" "02285" "2017-10-25 10:44:56" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000133119" "00132282" "1" "02285" "02285" "2017-10-25 10:49:45" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "panel gene" "0000133121" "00132284" "1" "02285" "02285" "2017-10-25 11:09:38" "" "" "SEQ-NG" "DNA" "Peripheral blood leucocytes" "gene panel" "0000150996" "00150141" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000150997" "00150142" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000150998" "00150143" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000155839" "00154976" "0" "01807" "01807" "2018-03-07 04:37:39" "" "" "SEQ" "DNA" "" "" "0000209832" "00208783" "1" "01164" "01164" "2018-12-17 10:13:24" "" "" "SEQ-NG" "DNA" "" "" "0000276799" "00275641" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276800" "00275642" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276801" "00275643" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276802" "00275644" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276814" "00275656" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276815" "00275657" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276816" "00275658" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290799" "00289631" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290800" "00289632" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290801" "00289633" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290802" "00289634" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290803" "00289635" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290804" "00289636" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290805" "00289637" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290806" "00289638" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290807" "00289639" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290808" "00289640" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296278" "00295110" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296525" "00295357" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305301" "00304172" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305302" "00304173" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305303" "00304174" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306452" "00305323" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319178" "00317996" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375400" "00374206" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375401" "00374207" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375402" "00374208" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389059" "00387828" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389076" "00387845" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389080" "00387849" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389113" "00387882" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000402452" "00401208" "1" "00006" "00006" "2022-01-29 16:26:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000409337" "00408082" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000430183" "00428770" "1" "00006" "00006" "2023-01-10 13:55:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000434788" "00433334" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434789" "00433335" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434790" "00433336" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434791" "00433337" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434792" "00433338" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434793" "00433339" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434794" "00433340" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434795" "00433341" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434796" "00433342" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434797" "00433343" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434953" "00433498" "1" "00006" "00006" "2023-03-10 12:21:44" "" "" "SEQ" "DNA" "" "" "0000434954" "00433499" "1" "00006" "00006" "2023-03-10 12:30:03" "" "" "SEQ" "DNA" "" "" "0000434955" "00433500" "1" "00006" "00006" "2023-03-10 12:30:03" "" "" "SEQ" "DNA" "" "" "0000434957" "00433502" "1" "00006" "00006" "2023-03-10 12:49:11" "" "" "SEQ" "DNA" "" "" "0000434958" "00433503" "1" "00006" "00006" "2023-03-10 13:23:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434959" "00433504" "1" "00006" "00006" "2023-03-10 13:26:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434960" "00433505" "1" "00006" "00006" "2023-03-10 13:32:42" "" "" "SEQ" "DNA" "" "" "0000434961" "00433506" "1" "00006" "00006" "2023-03-10 13:59:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434963" "00433508" "1" "00006" "00006" "2023-03-10 19:46:40" "" "" "SEQ" "DNA" "" "" "0000434964" "00433509" "1" "00006" "00006" "2023-03-10 19:53:51" "" "" "SEQ" "DNA" "" "target gene panel" "0000434965" "00433510" "1" "00006" "00006" "2023-03-10 20:01:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434966" "00433511" "1" "00006" "00006" "2023-03-11 14:12:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434967" "00433512" "1" "00006" "00006" "2023-03-11 14:22:54" "" "" "SEQ" "DNA" "" "" "0000434968" "00433513" "1" "00006" "00006" "2023-03-11 14:26:42" "" "" "SEQ" "DNA" "" "" "0000434969" "00433514" "1" "00006" "00006" "2023-03-11 14:29:02" "" "" "SEQ" "DNA" "" "" "0000434970" "00433515" "1" "00006" "00006" "2023-03-11 14:30:12" "" "" "SEQ" "DNA" "" "" "0000434971" "00433516" "1" "00006" "00006" "2023-03-11 16:42:49" "" "" "SEQ" "DNA" "" "" "0000434972" "00433517" "1" "00006" "00006" "2023-03-11 16:42:49" "" "" "SEQ" "DNA" "" "" "0000434973" "00433518" "1" "00006" "00006" "2023-03-11 16:42:49" "" "" "SEQ" "DNA" "" "" "0000434974" "00433519" "1" "00006" "00006" "2023-03-11 16:42:49" "" "" "SEQ" "DNA" "" "" "0000434975" "00433520" "1" "00006" "00006" "2023-03-11 16:42:49" "" "" "SEQ" "DNA" "" "" "0000434976" "00433521" "1" "00006" "00006" "2023-03-11 16:42:49" "" "" "SEQ" "DNA" "" "" "0000434977" "00433522" "1" "00006" "00006" "2023-03-11 16:42:49" "" "" "SEQ" "DNA" "" "" "0000434978" "00433523" "1" "00006" "00006" "2023-03-11 16:42:49" "" "" "SEQ" "DNA" "" "" "0000434979" "00433524" "1" "00006" "00006" "2023-03-11 16:42:49" "" "" "SEQ" "DNA" "" "" "0000434980" "00433525" "1" "00006" "00006" "2023-03-11 16:42:49" 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"2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435316" "00433853" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435317" "00433854" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435318" "00433855" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435319" "00433856" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435320" "00433857" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435321" "00433858" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435322" "00433859" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435323" "00433860" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435324" "00433861" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435325" "00433862" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435326" "00433863" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435327" "00433864" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435328" "00433865" "1" "00006" "00006" "2023-03-15 12:02:56" "" "" "SEQ" "DNA" "" "" "0000435343" "00433880" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435344" "00433881" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435345" "00433882" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435346" "00433883" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435347" "00433884" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435348" "00433885" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435349" "00433886" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435350" "00433887" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435352" "00433889" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435353" "00433890" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435354" "00433891" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435355" "00433892" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435356" "00433893" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435357" "00433894" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435361" "00433898" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435362" "00433899" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435363" "00433900" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435364" "00433901" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435365" "00433902" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435366" "00433903" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435367" "00433904" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435368" "00433905" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435369" "00433906" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435370" "00433907" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435371" "00433908" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435372" "00433909" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435373" "00433910" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435374" "00433911" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435375" "00433912" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435376" "00433913" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435377" "00433914" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435378" "00433915" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435379" "00433916" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435380" "00433917" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435381" "00433918" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435382" "00433919" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435383" "00433920" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435384" "00433921" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435385" "00433922" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435386" "00433923" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435387" "00433924" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435388" "00433925" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435389" "00433926" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435390" "00433927" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435391" "00433928" "1" "00006" "00006" "2023-03-16 10:19:22" "00006" "2023-03-16 14:33:37" "SEQ" "DNA" "" "" "0000435392" "00433929" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435393" "00433930" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435394" "00433931" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435395" "00433932" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435396" "00433933" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435397" "00433934" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435398" "00433935" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435399" "00433936" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435400" "00433937" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435401" "00433938" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435402" "00433939" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435403" "00433940" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435404" "00433941" "1" "00006" "00006" "2023-03-16 10:19:22" "" "" "SEQ" "DNA" "" "" "0000435405" "00433942" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435406" "00433943" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435407" "00433944" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435408" "00433945" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435409" "00433946" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435411" "00433948" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435413" "00433950" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435416" "00433953" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435417" "00433954" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435418" "00433955" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435419" "00433956" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435420" "00433957" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435421" "00433958" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435422" "00433959" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435423" "00433960" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435424" "00433961" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435425" "00433962" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435426" "00433963" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435427" "00433964" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435428" "00433965" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435429" "00433966" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435430" "00433967" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435431" "00433968" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435432" "00433969" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435433" "00433970" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435434" "00433971" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435435" "00433972" "1" "00006" "00006" "2023-03-16 11:51:24" "" "" "SEQ" "DNA" "" "" "0000435437" "00433974" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435438" "00433975" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435439" "00433976" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435440" "00433977" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435441" "00433978" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435442" "00433979" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435443" "00433980" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435444" "00433981" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435445" "00433982" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435447" "00433984" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435448" "00433985" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435449" "00433986" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435450" "00433987" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435451" "00433988" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435452" "00433989" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435454" "00433991" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435456" "00433993" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435457" "00433994" "1" "00006" "00006" "2023-03-16 14:19:59" "" "" "SEQ" "DNA" "" "" "0000435458" "00433995" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435459" "00433996" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435460" "00433997" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435461" "00433998" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435462" "00433999" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435463" "00434000" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435464" "00434001" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435465" "00434002" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435466" "00434003" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435467" "00434004" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435468" "00434005" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435469" "00434006" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435470" "00434007" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435471" "00434008" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435472" "00434009" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435473" "00434010" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435474" "00434011" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435475" "00434012" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435476" "00434013" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435477" "00434014" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435478" "00434015" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435479" "00434016" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000435480" "00434017" "1" "00006" "00006" "2023-03-16 21:41:13" "" "" "SEQ" "DNA" "" "" "0000454649" "00453038" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454650" "00453039" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454651" "00453040" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454652" "00453041" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454653" "00453042" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454654" "00453043" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454655" "00453044" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454656" "00453045" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454657" "00453046" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454658" "00453047" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454659" "00453048" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454660" "00453049" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454661" "00453050" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454662" "00453051" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454663" "00453052" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454664" "00453053" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000466898" "00465248" "1" "01164" "01164" "2025-04-28 11:28:20" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000468937" "00467274" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 487 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000081055" "ASPM" "0000081113" "ASPM" "0000132925" "ASPM" "0000132926" "ASPM" "0000132927" "ASPM" "0000132928" "ASPM" "0000132929" "ASPM" "0000132958" "ASPM" "0000132959" "ASPM" "0000132979" "ASPM" "0000132980" "ASPM" "0000132981" "ASPM" "0000132982" "ASPM" "0000132983" "ASPM" "0000133108" "ASPM" "0000133109" "ASPM" "0000133113" "ASPM" "0000133114" "ASPM" "0000133116" "ASPM" "0000133118" "ASPM" "0000133119" "ASPM" "0000133121" "ASPM" "0000150996" "ASPM" "0000150997" "ASPM" "0000150998" "ASPM" "0000276799" "ASPM" "0000276800" "ASPM" "0000276801" "ASPM" "0000276802" "ASPM" "0000276814" "ASPM" "0000276815" "ASPM" "0000276816" "ASPM" "0000319178" "ASPM" "0000375400" "ASPM" "0000375401" "ASPM" "0000375402" "ASPM" "0000389059" "ASPM" "0000389076" "ASPM" "0000389080" "ASPM" "0000389113" "ASPM" "0000409337" "ASPM" "0000434953" "ASPM" "0000434954" "ASPM" "0000434955" "ASPM" "0000434957" "ASPM" "0000434960" "ASPM" "0000434963" "ASPM" "0000434964" "ASPM" "0000434967" "ASPM" "0000434968" "ASPM" "0000434969" "ASPM" "0000434970" "ASPM" "0000434971" "ASPM" "0000434972" "ASPM" "0000434973" "ASPM" "0000434974" "ASPM" "0000434975" "ASPM" "0000434976" "ASPM" "0000434977" "ASPM" "0000434978" "ASPM" "0000434979" "ASPM" "0000434980" "ASPM" "0000434981" "ASPM" "0000434982" "ASPM" "0000434983" "ASPM" "0000434984" "ASPM" "0000434985" "ASPM" "0000434986" "ASPM" "0000434987" "ASPM" "0000434988" "ASPM" "0000434989" "ASPM" "0000434990" "ASPM" "0000434991" "ASPM" "0000434992" "ASPM" "0000434993" "ASPM" "0000434994" "ASPM" "0000434995" "ASPM" "0000434996" "ASPM" "0000434997" "ASPM" "0000434998" "ASPM" "0000434999" "ASPM" "0000435000" "ASPM" "0000435001" "ASPM" "0000435002" "ASPM" "0000435003" "ASPM" "0000435004" "ASPM" "0000435005" "ASPM" "0000435030" "ASPM" "0000435031" "ASPM" "0000435032" "ASPM" "0000435033" "ASPM" "0000435034" "ASPM" "0000435035" "ASPM" "0000435036" "ASPM" "0000435037" "ASPM" "0000435038" "ASPM" "0000435039" "ASPM" "0000435040" "ASPM" "0000435041" "ASPM" "0000435042" "ASPM" "0000435043" "ASPM" "0000435044" "ASPM" "0000435045" "ASPM" "0000435046" "ASPM" "0000435047" "ASPM" "0000435048" "ASPM" "0000435049" "ASPM" "0000435050" "ASPM" "0000435051" "ASPM" "0000435052" "ASPM" "0000435053" "ASPM" "0000435054" "ASPM" "0000435055" "ASPM" "0000435056" "ASPM" "0000435057" "ASPM" "0000435058" "ASPM" "0000435059" "ASPM" "0000435060" "ASPM" "0000435061" "ASPM" "0000435062" "ASPM" "0000435063" "ASPM" "0000435064" "ASPM" "0000435065" "ASPM" "0000435066" "ASPM" "0000435067" "ASPM" "0000435068" "ASPM" "0000435069" "ASPM" "0000435070" "ASPM" "0000435071" "ASPM" "0000435072" "ASPM" "0000435073" "ASPM" "0000435074" "ASPM" "0000435075" "ASPM" "0000435076" "ASPM" "0000435077" "ASPM" "0000435078" "ASPM" "0000435079" "ASPM" "0000435080" "ASPM" "0000435081" "ASPM" "0000435082" "ASPM" "0000435083" "ASPM" "0000435084" "ASPM" "0000435085" "ASPM" "0000435086" "ASPM" "0000435087" "ASPM" "0000435088" "ASPM" "0000435089" "ASPM" "0000435090" "ASPM" "0000435091" "ASPM" "0000435092" "ASPM" "0000435093" "ASPM" "0000435094" "ASPM" "0000435095" "ASPM" "0000435096" "ASPM" "0000435097" "ASPM" "0000435098" "ASPM" "0000435099" "ASPM" "0000435100" "ASPM" "0000435101" "ASPM" "0000435102" "ASPM" "0000435103" "ASPM" "0000435104" "ASPM" "0000435105" "ASPM" "0000435106" "ASPM" "0000435107" "ASPM" "0000435108" "ASPM" "0000435109" "ASPM" "0000435110" "ASPM" "0000435142" "ASPM" "0000435143" "ASPM" "0000435144" "ASPM" "0000435145" "ASPM" "0000435146" "ASPM" "0000435147" "ASPM" "0000435148" "ASPM" "0000435149" "ASPM" "0000435150" "ASPM" "0000435151" "ASPM" "0000435152" "ASPM" "0000435153" "ASPM" "0000435154" "ASPM" "0000435155" "ASPM" "0000435156" "ASPM" "0000435157" "ASPM" "0000435158" "ASPM" "0000435159" "ASPM" "0000435160" "ASPM" "0000435161" "ASPM" "0000435162" "ASPM" "0000435163" "ASPM" "0000435164" "ASPM" "0000435165" "ASPM" "0000435166" "ASPM" "0000435167" "ASPM" "0000435168" "ASPM" "0000435169" "ASPM" "0000435170" "ASPM" "0000435171" "ASPM" "0000435172" "ASPM" "0000435173" "ASPM" "0000435174" "ASPM" "0000435175" "ASPM" "0000435176" "ASPM" "0000435177" "ASPM" "0000435178" "ASPM" "0000435187" "ASPM" "0000435188" "ASPM" "0000435189" "ASPM" "0000435190" "ASPM" "0000435191" "ASPM" "0000435192" "ASPM" "0000435193" "ASPM" "0000435194" "ASPM" "0000435195" "ASPM" "0000435196" "ASPM" "0000435197" "ASPM" "0000435199" "ASPM" "0000435200" "ASPM" "0000435201" "ASPM" "0000435202" "ASPM" "0000435203" "ASPM" "0000435204" "ASPM" "0000435205" "ASPM" "0000435206" "ASPM" "0000435207" "ASPM" "0000435208" "ASPM" "0000435209" "ASPM" "0000435210" "ASPM" "0000435224" "ASPM" "0000435225" "ASPM" "0000435226" "ASPM" "0000435227" "ASPM" "0000435228" "ASPM" "0000435229" "ASPM" "0000435230" "ASPM" "0000435231" "ASPM" "0000435232" "ASPM" "0000435233" "ASPM" "0000435234" "ASPM" "0000435235" "ASPM" "0000435236" "ASPM" "0000435237" "ASPM" "0000435238" "ASPM" "0000435239" "ASPM" "0000435240" "ASPM" "0000435246" "ASPM" "0000435247" "ASPM" "0000435248" "ASPM" "0000435249" "ASPM" "0000435250" "ASPM" "0000435251" "ASPM" "0000435252" "ASPM" "0000435253" "ASPM" "0000435254" "ASPM" "0000435255" "ASPM" "0000435256" "ASPM" "0000435257" "ASPM" "0000435258" "ASPM" "0000435259" "ASPM" "0000435260" "ASPM" "0000435261" "ASPM" "0000435262" "ASPM" "0000435263" "ASPM" "0000435264" "ASPM" "0000435265" "ASPM" "0000435266" "ASPM" "0000435267" "ASPM" "0000435268" "ASPM" "0000435269" "ASPM" "0000435270" "ASPM" "0000435271" "ASPM" "0000435272" "ASPM" "0000435273" "ASPM" "0000435274" "ASPM" "0000435275" "ASPM" "0000435276" "ASPM" "0000435277" "ASPM" "0000435278" "ASPM" "0000435279" "ASPM" "0000435280" "ASPM" "0000435281" "ASPM" "0000435282" "ASPM" "0000435283" "ASPM" "0000435284" "ASPM" "0000435285" "ASPM" "0000435286" "ASPM" "0000435287" "ASPM" "0000435288" "ASPM" "0000435289" "ASPM" "0000435290" "ASPM" "0000435291" "ASPM" "0000435292" "ASPM" "0000435293" "ASPM" "0000435294" "ASPM" "0000435295" "ASPM" "0000435296" "ASPM" "0000435297" "ASPM" "0000435298" "ASPM" "0000435299" "ASPM" "0000435300" "ASPM" "0000435301" "ASPM" "0000435302" "ASPM" "0000435303" "ASPM" "0000435304" "ASPM" "0000435305" "ASPM" "0000435306" "ASPM" "0000435307" "ASPM" "0000435308" "ASPM" "0000435309" "ASPM" "0000435310" "ASPM" "0000435311" "ASPM" "0000435312" "ASPM" "0000435313" "ASPM" "0000435314" "ASPM" "0000435315" "ASPM" "0000435316" "ASPM" "0000435317" "ASPM" "0000435318" "ASPM" "0000435319" "ASPM" "0000435320" "ASPM" "0000435321" "ASPM" "0000435322" "ASPM" "0000435323" "ASPM" "0000435324" "ASPM" "0000435325" "ASPM" "0000435326" "ASPM" "0000435327" "ASPM" "0000435328" "ASPM" "0000435343" "ASPM" "0000435344" "ASPM" "0000435345" "ASPM" "0000435346" "ASPM" "0000435347" "ASPM" "0000435348" "ASPM" "0000435349" "ASPM" "0000435350" "ASPM" "0000435352" "ASPM" "0000435353" "ASPM" "0000435354" "ASPM" "0000435355" "ASPM" "0000435356" "ASPM" "0000435357" "ASPM" "0000435361" "ASPM" "0000435362" "ASPM" "0000435363" "ASPM" "0000435364" "ASPM" "0000435365" "ASPM" "0000435366" "ASPM" "0000435367" "ASPM" "0000435368" "ASPM" "0000435369" "ASPM" "0000435370" "ASPM" "0000435371" "ASPM" "0000435372" "ASPM" "0000435373" "ASPM" "0000435374" "ASPM" "0000435375" "ASPM" "0000435376" "ASPM" "0000435377" "ASPM" "0000435378" "ASPM" "0000435379" "ASPM" "0000435380" "ASPM" "0000435381" "ASPM" "0000435382" "ASPM" "0000435383" "ASPM" "0000435384" "ASPM" "0000435385" "ASPM" "0000435386" "ASPM" "0000435387" "ASPM" "0000435388" "ASPM" "0000435389" "ASPM" "0000435390" "ASPM" "0000435391" "ASPM" "0000435391" "STS" "0000435392" "ASPM" "0000435393" "ASPM" "0000435394" "ASPM" "0000435395" "ASPM" "0000435396" "ASPM" "0000435397" "ASPM" "0000435398" "ASPM" "0000435399" "ASPM" "0000435400" "ASPM" "0000435401" "ASPM" "0000435402" "ASPM" "0000435403" "ASPM" "0000435404" "ASPM" "0000435405" "ASPM" "0000435406" "ASPM" "0000435407" "ASPM" "0000435408" "ASPM" "0000435409" "ASPM" "0000435411" "ASPM" "0000435413" "ASPM" "0000435416" "ASPM" "0000435417" "ASPM" "0000435418" "ASPM" "0000435419" "ASPM" "0000435420" "ASPM" "0000435421" "ASPM" "0000435422" "ASPM" "0000435423" "ASPM" "0000435424" "ASPM" "0000435425" "ASPM" "0000435426" "ASPM" "0000435427" "ASPM" "0000435428" "ASPM" "0000435429" "ASPM" "0000435430" "ASPM" "0000435431" "ASPM" "0000435432" "ASPM" "0000435433" "ASPM" "0000435434" "ASPM" "0000435435" "ASPM" "0000435437" "ASPM" "0000435438" "ASPM" "0000435439" "ASPM" "0000435440" "ASPM" "0000435441" "ASPM" "0000435442" "ASPM" "0000435443" "ASPM" "0000435444" "ASPM" "0000435445" "ASPM" "0000435447" "ASPM" "0000435448" "ASPM" "0000435449" "ASPM" "0000435450" "ASPM" "0000435451" "ASPM" "0000435452" "ASPM" "0000435454" "ASPM" "0000435456" "ASPM" "0000435457" "ASPM" "0000435458" "ASPM" "0000435459" "ASPM" "0000435460" "ASPM" "0000435461" "ASPM" "0000435462" "ASPM" "0000435463" "ASPM" "0000435464" "ASPM" "0000435465" "ASPM" "0000435466" "ASPM" "0000435467" "ASPM" "0000435468" "ASPM" "0000435469" "ASPM" "0000435470" "ASPM" "0000435471" "ASPM" "0000435472" "ASPM" "0000435473" "ASPM" "0000435474" "ASPM" "0000435475" "ASPM" "0000435476" "ASPM" "0000435477" "ASPM" "0000435478" "ASPM" "0000435479" "ASPM" "0000435480" "ASPM" "0000466898" "ASPM" ## 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 = 867 "{{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}}" "0000087503" "21" "70" "1" "197093999" "197093999" "subst" "0" "01494" "ASPM_000004" "g.197093999C>G" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197124869C>G" "" "likely pathogenic" "" "0000087504" "11" "70" "1" "197070597" "197070600" "del" "0" "01494" "ASPM_000005" "g.197070597_197070600del" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197101467_197101470del" "" "likely pathogenic" "" "0000087521" "0" "70" "1" "197102510" "197102510" "subst" "1.22011E-5" "01494" "ASPM_000002" "g.197102510G>A" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "" "" "Unknown" "yes" "rs145489194" "0" "" "" "g.197133380G>A" "4965" "likely pathogenic" "" "0000087523" "0" "70" "1" "197104341" "197104341" "dup" "0" "01494" "ASPM_000003" "g.197104341dup" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "2053dupA (N688Kfs*5)" "error in annotation, p.N688Kfs*5 is caused by c.2063dupA and not c.2053dupA" "Unknown" "no" "" "0" "" "" "g.197135211dup" "" "likely pathogenic" "" "0000130141" "3" "90" "1" "197070364" "197070364" "subst" "4.09283E-6" "01758" "ASPM_000007" "g.197070364G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.197101234G>A" "" "pathogenic" "ACMG" "0000130199" "3" "70" "1" "197071058" "197071058" "subst" "0" "01758" "ASPM_000006" "g.197071058A>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.197101928A>T" "" "likely pathogenic" "ACMG" "0000222114" "3" "70" "1" "197111532" "197111535" "del" "0" "02285" "ASPM_000008" "g.197111532_197111535del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "?" "" "0" "" "" "g.197142402_197142405del" "" "likely pathogenic (recessive)" "" "0000222115" "3" "70" "1" "197108981" "197108981" "dup" "0" "02285" "ASPM_000009" "g.197108981dup" "" "{PMID:Letard 2018:29243349}" "" "1943_1944insC" "" "Germline" "" "" "0" "" "" "g.197139851dup" "" "likely pathogenic (recessive)" "" "0000222116" "21" "70" "1" "197098439" "197098439" "subst" "0" "02285" "ASPM_000010" "g.197098439C>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197129309C>A" "" "likely pathogenic (recessive)" "" "0000222117" "11" "70" "1" "197097618" "197097618" "subst" "4.06187E-6" "02285" "ASPM_000011" "g.197097618A>G" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197128488A>G" "" "likely pathogenic (recessive)" "" "0000222118" "3" "70" "1" "197093445" "197093449" "del" "0" "02285" "ASPM_000012" "g.197093445_197093449del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197124315_197124319del" "" "likely pathogenic (recessive)" "" "0000222146" "3" "70" "1" "197093361" "197093361" "dup" "0" "02285" "ASPM_000013" "g.197093361dup" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197124231dup" "" "likely pathogenic (recessive)" "" "0000222147" "3" "70" "1" "197073649" "197073649" "subst" "0" "02285" "ASPM_000016" "g.197073649G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197104519G>A" "" "likely pathogenic" "" "0000222169" "3" "70" "1" "197073575" "197073575" "subst" "0" "02285" "ASPM_000017" "g.197073575A>C" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197104445A>C" "" "likely pathogenic (recessive)" "" "0000222170" "3" "70" "1" "197073385" "197073389" "dup" "0" "02285" "ASPM_000018" "g.197073385_197073389dup" "" "{PMID:Letard 2018:29243349}" "" "4992_4996dup" "" "Germline" "yes" "" "0" "" "" "g.197104255_197104259dup" "" "likely pathogenic" "" "0000222171" "11" "70" "1" "197072496" "197072497" "del" "0" "02285" "ASPM_000020" "g.197072496_197072497del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197103366_197103367del" "" "likely pathogenic (recessive)" "" "0000222172" "3" "70" "1" "197072441" "197072441" "del" "0" "02285" "ASPM_000021" "g.197072441del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197103311del" "" "likely pathogenic (recessive)" "" "0000222173" "3" "70" "1" "197071870" "197071870" "dup" "0" "02285" "ASPM_000022" "g.197071870dup" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197102740dup" "" "likely pathogenic (recessive)" "" "0000222242" "21" "70" "1" "197071813" "197071813" "subst" "8.1813E-6" "02285" "ASPM_000023" "g.197071813G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197102683G>A" "" "likely pathogenic (recessive)" "" "0000222306" "10" "70" "1" "197071813" "197071813" "subst" "8.1813E-6" "02285" "ASPM_000023" "g.197071813G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197102683G>A" "" "likely pathogenic (recessive)" "" "0000222307" "3" "70" "1" "197071723" "197071723" "subst" "0" "02285" "ASPM_000024" "g.197071723G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197102593G>A" "" "likely pathogenic (recessive)" "" "0000222308" "11" "70" "1" "197071462" "197071462" "subst" "4.0872E-6" "02285" "ASPM_000025" "g.197071462G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197102332G>A" "" "likely pathogenic (recessive)" "" "0000222317" "3" "70" "1" "197071460" "197071461" "del" "4.08624E-6" "02285" "ASPM_000034" "g.197071460_197071461del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197102330_197102331del" "" "likely pathogenic (recessive)" "" "0000222318" "11" "70" "1" "197070641" "197070641" "del" "0" "02285" "ASPM_000033" "g.197070641del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101511del" "" "likely pathogenic (recessive)" "" "0000222319" "21" "70" "1" "197070628" "197070628" "subst" "0" "02285" "ASPM_000032" "g.197070628C>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101498C>A" "" "likely pathogenic (recessive)" "" "0000222320" "1" "70" "1" "197069782" "197069782" "del" "0" "02285" "ASPM_000031" "g.197069782delinsAT" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197100652delinsAT" "" "likely pathogenic (recessive)" "" "0000222321" "2" "70" "1" "197060172" "197060173" "del" "0" "02285" "ASPM_000027" "g.197060172_197060173del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197091042_197091043del" "" "likely pathogenic (recessive)" "" "0000222323" "3" "70" "1" "197069679" "197069679" "del" "0" "02285" "ASPM_000029" "g.197069679del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197100549del" "" "likely pathogenic (recessive)" "" "0000222324" "3" "70" "1" "197069679" "197069679" "del" "0" "02285" "ASPM_000029" "g.197069679del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197100549del" "" "likely pathogenic (recessive)" "" "0000222326" "1" "70" "1" "197091286" "197091286" "subst" "0.00141388" "02285" "ASPM_000035" "g.197091286T>C" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197122156T>C" "" "likely pathogenic (recessive)" "" "0000222327" "2" "70" "1" "197053520" "197053520" "del" "0" "02285" "ASPM_000026" "g.197053520del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197084390del" "" "likely pathogenic (recessive)" "" "0000244152" "3" "90" "1" "197070810" "197070811" "del" "0" "00006" "ASPM_000037" "g.197070810_197070811del" "" "{PMID:Karaca 2015:26539891}" "" "NM_018136: c.7573_7574del; p.2525_2525del" "" "Germline" "" "" "0" "" "" "g.197101680_197101681del" "" "pathogenic" "" "0000244153" "3" "90" "1" "197111654" "197111655" "del" "0" "00006" "ASPM_000038" "g.197111654_197111655del" "" "{PMID:Karaca 2015:26539891}" "" "NM_018136: c.1729_1730del; p.577_577del" "" "Germline" "" "" "0" "" "" "g.197142524_197142525del" "" "pathogenic" "" "0000244154" "3" "90" "1" "197063209" "197063209" "subst" "0" "00006" "ASPM_000036" "g.197063209C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_018136: c.9084+5G>A" "" "Germline" "" "" "0" "" "" "g.197094079C>T" "" "pathogenic" "" "0000247935" "0" "10" "1" "197091537" "197091537" "subst" "0.888047" "02325" "ASPM_000122" "g.197091537A>T" "" "" "" "ASPM(NM_018136.4):c.3579T>A (p.S1193=), ASPM(NM_018136.5):c.3579T>A (p.S1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122407A>T" "" "benign" "" "0000248010" "0" "10" "1" "197070901" "197070901" "subst" "0.996275" "02325" "ASPM_000082" "g.197070901A>G" "" "" "" "ASPM(NM_018136.4):c.7480T>C (p.Y2494H), ASPM(NM_018136.5):c.7480T>C (p.Y2494H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101771A>G" "" "benign" "" "0000248011" "0" "10" "1" "197102745" "197102745" "subst" "0.256629" "02325" "ASPM_000141" "g.197102745A>G" "" "" "" "ASPM(NM_018136.4):c.2174-20T>C, ASPM(NM_018136.5):c.2174-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197133615A>G" "" "benign" "" "0000248059" "0" "30" "1" "197091183" "197091183" "subst" "0.00693568" "02325" "ASPM_000120" "g.197091183A>C" "" "" "" "ASPM(NM_018136.4):c.3742-10T>G, ASPM(NM_018136.5):c.3742-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122053A>C" "" "likely benign" "" "0000249730" "0" "50" "1" "197072988" "197072988" "subst" "0" "02325" "ASPM_000102" "g.197072988A>C" "" "" "" "ASPM(NM_018136.5):c.5393T>G (p.F1798C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197103858A>C" "" "VUS" "" "0000253196" "0" "10" "1" "197091537" "197091537" "subst" "0.888047" "01943" "ASPM_000122" "g.197091537A>T" "" "" "" "ASPM(NM_018136.4):c.3579T>A (p.S1193=), ASPM(NM_018136.5):c.3579T>A (p.S1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122407A>T" "" "benign" "" "0000253271" "0" "10" "1" "197070901" "197070901" "subst" "0.996275" "01943" "ASPM_000082" "g.197070901A>G" "" "" "" "ASPM(NM_018136.4):c.7480T>C (p.Y2494H), ASPM(NM_018136.5):c.7480T>C (p.Y2494H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101771A>G" "" "benign" "" "0000253272" "0" "10" "1" "197102745" "197102745" "subst" "0.256629" "01943" "ASPM_000141" "g.197102745A>G" "" "" "" "ASPM(NM_018136.4):c.2174-20T>C, ASPM(NM_018136.5):c.2174-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197133615A>G" "" "benign" "" "0000253320" "0" "10" "1" "197091183" "197091183" "subst" "0.00693568" "01943" "ASPM_000120" "g.197091183A>C" "" "" "" "ASPM(NM_018136.4):c.3742-10T>G, ASPM(NM_018136.5):c.3742-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122053A>C" "" "benign" "" "0000253431" "0" "10" "1" "197097751" "197097751" "subst" "0.0105769" "01943" "ASPM_000132" "g.197097751A>G" "" "" "" "ASPM(NM_018136.4):c.2805T>C (p.S935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197128621A>G" "" "benign" "" "0000253514" "0" "10" "1" "197072560" "197072560" "subst" "0.00484919" "01943" "ASPM_000097" "g.197072560A>G" "" "" "" "ASPM(NM_018136.4):c.5821T>C (p.C1941R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197103430A>G" "" "benign" "" "0000253575" "0" "10" "1" "197108946" "197108946" "subst" "0.0445296" "01943" "ASPM_000143" "g.197108946A>G" "" "" "" "ASPM(NM_018136.4):c.1977T>C (p.I659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197139816A>G" "" "benign" "" "0000253613" "0" "10" "1" "197061086" "197061086" "subst" "0.0344603" "01943" "ASPM_000052" "g.197061086A>C" "" "" "" "ASPM(NM_018136.4):c.9395T>G (p.L3132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197091956A>C" "" "benign" "" "0000253711" "0" "10" "1" "197070594" "197070594" "subst" "0.00488854" "01943" "ASPM_000182" "g.197070594A>G" "" "" "" "ASPM(NM_018136.4):c.7787T>C (p.V2596A), ASPM(NM_018136.5):c.7787T>C (p.V2596A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101464A>G" "" "benign" "" "0000253733" "0" "10" "1" "197062394" "197062394" "subst" "5.7492E-5" "01943" "ASPM_000181" "g.197062394A>G" "" "" "" "ASPM(NM_001206846.1):c.4330-3T>C (p.?), ASPM(NM_018136.4):c.9085-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197093264A>G" "" "benign" "" "0000254187" "0" "30" "1" "197059498" "197059498" "subst" "6.96413E-5" "01943" "ASPM_000049" "g.197059498A>C" "" "" "" "ASPM(NM_018136.4):c.9657T>G (p.S3219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197090368A>C" "" "likely benign" "" "0000254188" "0" "30" "1" "197070830" "197070830" "subst" "0.000665904" "01943" "ASPM_000081" "g.197070830A>G" "" "" "" "ASPM(NM_018136.4):c.7551T>C (p.Y2517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101700A>G" "" "likely benign" "" "0000254189" "0" "30" "1" "197071606" "197071606" "subst" "0.000731042" "01943" "ASPM_000089" "g.197071606A>G" "" "" "" "ASPM(NM_018136.4):c.6775T>C (p.L2259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197102476A>G" "" "likely benign" "" "0000254310" "0" "30" "1" "197059479" "197059479" "subst" "0.000473914" "01943" "ASPM_000048" "g.197059479A>C" "" "" "" "ASPM(NM_018136.4):c.9676T>G (p.C3226G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197090349A>C" "" "likely benign" "" "0000254567" "0" "30" "1" "197108992" "197108992" "subst" "3.25068E-5" "01943" "ASPM_000144" "g.197108992A>T" "" "" "" "ASPM(NM_018136.4):c.1931T>A (p.I644K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197139862A>T" "" "likely benign" "" "0000255164" "0" "30" "1" "197056009" "197056009" "subst" "0" "01943" "ASPM_000044" "g.197056009A>G" "" "" "" "ASPM(NM_018136.4):c.10255T>C (p.Y3419H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197086879A>G" "" "likely benign" "" "0000255836" "0" "50" "1" "197060124" "197060124" "subst" "0.00245338" "01943" "ASPM_000051" "g.197060124A>G" "" "" "" "ASPM(NM_018136.4):c.9492T>C (p.Y3164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197090994A>G" "" "VUS" "" "0000255965" "0" "50" "1" "197097683" "197097683" "subst" "4.06101E-6" "01943" "ASPM_000131" "g.197097683A>G" "" "" "" "ASPM(NM_018136.4):c.2873T>C (p.F958S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197128553A>G" "" "VUS" "" "0000256041" "0" "50" "1" "197070372" "197070372" "subst" "0.000286524" "01943" "ASPM_000069" "g.197070372A>G" "" "" "" "ASPM(NM_018136.4):c.8009T>C (p.I2670T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101242A>G" "" "VUS" "" "0000256055" "0" "50" "1" "197062369" "197062369" "subst" "4.49732E-5" "01943" "ASPM_000054" "g.197062369A>G" "" "" "" "ASPM(NM_018136.4):c.9107T>C (p.I3036T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197093239A>G" "" "VUS" "" "0000259157" "0" "10" "1" "197055925" "197055925" "subst" "0.888166" "02325" "ASPM_000041" "g.197055925T>C" "" "" "" "ASPM(NM_018136.4):c.10331+8A>G, ASPM(NM_018136.5):c.10331+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197086795T>C" "" "benign" "" "0000259158" "0" "10" "1" "197094030" "197094030" "subst" "0.280197" "02325" "ASPM_000129" "g.197094030C>T" "" "" "" "ASPM(NM_018136.4):c.3138G>A (p.R1046=), ASPM(NM_018136.5):c.3138G>A (p.R1046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197124900C>T" "" "benign" "" "0000259159" "0" "10" "1" "197113073" "197113073" "subst" "0.880702" "02325" "ASPM_000158" "g.197113073G>A" "" "" "" "ASPM(NM_018136.4):c.441+14C>T, ASPM(NM_018136.5):c.441+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143943G>A" "" "benign" "" "0000259160" "0" "10" "1" "197073932" "197073932" "subst" "0.343539" "02325" "ASPM_000110" "g.197073932T>C" "" "" "" "ASPM(NM_018136.4):c.4449A>G (p.K1483=), ASPM(NM_018136.5):c.4449A>G (p.K1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104802T>C" "" "benign" "" "0000259161" "0" "10" "1" "197070776" "197070776" "subst" "0.256219" "02325" "ASPM_000078" "g.197070776C>T" "" "" "" "ASPM(NM_018136.4):c.7605G>A (p.V2535=), ASPM(NM_018136.5):c.7605G>A (p.V2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101646C>T" "" "benign" "" "0000259162" "0" "10" "1" "197070707" "197070707" "subst" "0.336114" "02325" "ASPM_000075" "g.197070707G>A" "" "" "" "ASPM(NM_018136.4):c.7674C>T (p.I2558=), ASPM(NM_018136.5):c.7674C>T (p.I2558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101577G>A" "" "benign" "" "0000259163" "0" "10" "1" "197070697" "197070697" "subst" "0.336384" "02325" "ASPM_000074" "g.197070697T>C" "" "" "" "ASPM(NM_018136.4):c.7684A>G (p.S2562G), ASPM(NM_018136.5):c.7684A>G (p.S2562G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101567T>C" "" "benign" "" "0000259164" "0" "10" "1" "197070442" "197070442" "subst" "0.33557" "02325" "ASPM_000001" "g.197070442G>T" "" "" "" "ASPM(NM_018136.4):c.7939C>A (p.L2647I), ASPM(NM_018136.5):c.7939C>A (p.L2647I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101312G>T" "" "benign" "" "0000259165" "0" "10" "1" "197112533" "197112533" "subst" "0.88101" "02325" "ASPM_000152" "g.197112533G>A" "" "" "" "ASPM(NM_018136.4):c.849C>T (p.S283=), ASPM(NM_018136.5):c.849C>T (p.S283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143403G>A" "" "benign" "" "0000259682" "0" "50" "1" "197056003" "197056003" "subst" "0.000219943" "02325" "ASPM_000043" "g.197056003G>T" "" "" "" "ASPM(NM_018136.5):c.10261C>A (p.Q3421K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197086873G>T" "" "VUS" "" "0000261125" "0" "90" "1" "197091104" "197091104" "subst" "1.22305E-5" "02326" "ASPM_000117" "g.197091104G>A" "" "" "" "ASPM(NM_018136.5):c.3811C>T (p.R1271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197121974G>A" "" "pathogenic" "" "0000261126" "0" "90" "1" "197069608" "197069608" "subst" "0" "02326" "ASPM_000058" "g.197069608G>A" "" "" "" "ASPM(NM_018136.5):c.8773C>T (p.Q2925*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197100478G>A" "" "pathogenic" "" "0000261127" "0" "30" "1" "197060077" "197060077" "subst" "0.00478291" "02326" "ASPM_000050" "g.197060077T>G" "" "" "" "ASPM(NM_001206846.1):c.4784A>C (p.(Gln1595Pro)), ASPM(NM_018136.5):c.9539A>C (p.Q3180P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197090947T>G" "" "likely benign" "" "0000263037" "0" "30" "1" "197057486" "197057486" "subst" "4.07276E-5" "01943" "ASPM_000045" "g.197057486C>T" "" "" "" "ASPM(NM_018136.4):c.10061G>A (p.R3354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197088356C>T" "" "likely benign" "" "0000263038" "0" "50" "1" "197055985" "197055985" "subst" "2.03593E-5" "01943" "ASPM_000042" "g.197055985T>C" "" "" "" "ASPM(NM_018136.4):c.10279A>G (p.I3427V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197086855T>C" "" "VUS" "" "0000263039" "0" "30" "1" "197055915" "197055915" "subst" "0.001764" "01943" "ASPM_000040" "g.197055915C>T" "" "" "" "ASPM(NM_018136.4):c.10331+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197086785C>T" "" "likely benign" "" "0000263040" "0" "10" "1" "197055925" "197055925" "subst" "0.888166" "01943" "ASPM_000041" "g.197055925T>C" "" "" "" "ASPM(NM_018136.4):c.10331+8A>G, ASPM(NM_018136.5):c.10331+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197086795T>C" "" "benign" "" "0000263041" "0" "30" "1" "197115456" "197115456" "subst" "8.21119E-6" "01943" "ASPM_000161" "g.197115456C>T" "" "" "" "ASPM(NM_018136.4):c.112G>A (p.V38I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197146326C>T" "" "likely benign" "" "0000263042" "0" "10" "1" "197112094" "197112094" "subst" "0.00354815" "01943" "ASPM_000148" "g.197112094T>C" "" "" "" "ASPM(NM_018136.4):c.1288A>G (p.R430G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197142964T>C" "" "benign" "" "0000263043" "0" "30" "1" "197115433" "197115433" "subst" "0.0001465" "01943" "ASPM_000160" "g.197115433G>A" "" "" "" "ASPM(NM_018136.4):c.135C>T (p.C45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197146303G>A" "" "likely benign" "" "0000263044" "0" "50" "1" "197111665" "197111665" "subst" "0.00182483" "01943" "ASPM_000146" "g.197111665G>A" "" "" "" "ASPM(NM_018136.4):c.1717C>T (p.R573W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197142535G>A" "" "VUS" "" "0000263045" "0" "50" "1" "197111650" "197111650" "subst" "0.00207629" "01943" "ASPM_000145" "g.197111650C>T" "" "" "" "ASPM(NM_018136.4):c.1732G>A (p.D578N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197142520C>T" "" "VUS" "" "0000263046" "0" "30" "1" "197108919" "197108919" "subst" "7.71674E-5" "01943" "ASPM_000142" "g.197108919G>A" "" "" "" "ASPM(NM_018136.4):c.2004C>T (p.T668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197139789G>A" "" "likely benign" "" "0000263047" "0" "50" "1" "197115345" "197115345" "subst" "0.00236405" "01943" "ASPM_000159" "g.197115345C>T" "" "" "" "ASPM(NM_001206846.1):c.223G>A (p.(Ala75Thr)), ASPM(NM_018136.4):c.223G>A (p.A75T), ASPM(NM_018136.5):c.223G>A (p.A75T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197146215C>T" "" "VUS" "" "0000263048" "0" "10" "1" "197102592" "197102592" "subst" "0.00355054" "01943" "ASPM_000137" "g.197102592T>C" "" "" "" "ASPM(NM_018136.4):c.2307A>G (p.A769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197133462T>C" "" "benign" "" "0000263049" "0" "10" "1" "197102468" "197102468" "subst" "0.0162812" "01943" "ASPM_000136" "g.197102468C>T" "" "" "" "ASPM(NM_018136.4):c.2419+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197133338C>T" "" "benign" "" "0000263050" "0" "30" "1" "197101502" "197101502" "subst" "0.000195367" "01943" "ASPM_000135" "g.197101502C>T" "" "" "" "ASPM(NM_018136.4):c.2420-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197132372C>T" "" "likely benign" "" "0000263052" "0" "30" "1" "197098326" "197098326" "subst" "0.0148697" "01943" "ASPM_000133" "g.197098326G>A" "" "" "" "ASPM(NM_018136.4):c.2751C>T (p.A917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197129196G>A" "" "likely benign" "" "0000263053" "0" "10" "1" "197094030" "197094030" "subst" "0.280197" "01943" "ASPM_000129" "g.197094030C>T" "" "" "" "ASPM(NM_018136.4):c.3138G>A (p.R1046=), ASPM(NM_018136.5):c.3138G>A (p.R1046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197124900C>T" "" "benign" "" "0000263054" "0" "90" "1" "197093428" "197093428" "subst" "0" "01943" "ASPM_000128" "g.197093428C>A" "" "" "" "ASPM(NM_018136.4):c.3202G>T (p.E1068*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197124298C>A" "" "pathogenic" "" "0000263055" "0" "10" "1" "197093361" "197093361" "subst" "0.010588" "01943" "ASPM_000127" "g.197093361G>A" "" "" "" "ASPM(NM_001206846.1):c.3269C>T (p.(Ser1090Phe)), ASPM(NM_018136.4):c.3269C>T (p.S1090F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197124231G>A" "" "benign" "" "0000263056" "0" "30" "1" "197093237" "197093237" "subst" "4.09262E-6" "01943" "ASPM_000126" "g.197093237T>C" "" "" "" "ASPM(NM_018136.4):c.3390+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197124107T>C" "" "likely benign" "" "0000263057" "0" "10" "1" "197091739" "197091739" "subst" "0.00472291" "01943" "ASPM_000125" "g.197091739C>A" "" "" "" "ASPM(NM_018136.4):c.3391-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122609C>A" "" "benign" "" "0000263058" "0" "30" "1" "197091600" "197091600" "subst" "2.03717E-5" "01943" "ASPM_000124" "g.197091600C>T" "" "" "" "ASPM(NM_018136.4):c.3516G>A (p.T1172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122470C>T" "" "likely benign" "" "0000263059" "0" "50" "1" "197091550" "197091550" "subst" "0.000297084" "01943" "ASPM_000123" "g.197091550G>A" "" "" "" "ASPM(NM_018136.4):c.3566C>T (p.S1189F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122420G>A" "" "VUS" "" "0000263060" "0" "30" "1" "197091304" "197091304" "subst" "6.52789E-5" "01943" "ASPM_000121" "g.197091304T>C" "" "" "" "ASPM(NM_018136.4):c.3726A>G (p.T1242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122174T>C" "" "likely benign" "" "0000263061" "0" "30" "1" "197091111" "197091111" "subst" "4.48456E-5" "01943" "ASPM_000118" "g.197091111T>C" "" "" "" "ASPM(NM_018136.4):c.3804A>G (p.R1268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197121981T>C" "" "likely benign" "" "0000263062" "0" "10" "1" "197087072" "197087072" "subst" "0.0035595" "01943" "ASPM_000116" "g.197087072G>T" "" "" "" "ASPM(NM_018136.4):c.3912C>A (p.I1304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197117942G>T" "" "benign" "" "0000263063" "0" "50" "1" "197074265" "197074267" "del" "0" "01943" "ASPM_000115" "g.197074265_197074267del" "" "" "" "ASPM(NM_018136.4):c.4118_4120delATT (p.(Tyr1373del)), ASPM(NM_018136.4):c.4118_4120delATT (p.Y1373del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197105135_197105137del" "" "VUS" "" "0000263064" "0" "50" "1" "197074168" "197074168" "subst" "0.00525863" "01943" "ASPM_000114" "g.197074168G>A" "" "" "" "ASPM(NM_018136.4):c.4213C>T (p.R1405C, p.(Arg1405Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197105038G>A" "" "VUS" "" "0000263065" "0" "50" "1" "197074167" "197074167" "subst" "7.36546E-5" "01943" "ASPM_000113" "g.197074167C>T" "" "" "" "ASPM(NM_018136.4):c.4214G>A (p.R1405H, p.(Arg1405His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197105037C>T" "" "VUS" "" "0000263066" "0" "50" "1" "197074085" "197074085" "subst" "2.04355E-5" "01943" "ASPM_000112" "g.197074085T>G" "" "" "" "ASPM(NM_018136.4):c.4296A>C (p.R1432S), ASPM(NM_018136.5):c.4296A>C (p.(Arg1432Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104955T>G" "" "VUS" "" "0000263067" "0" "30" "1" "197074067" "197074067" "subst" "0" "01943" "ASPM_000111" "g.197074067T>C" "" "" "" "ASPM(NM_018136.4):c.4314A>G (p.K1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104937T>C" "" "likely benign" "" "0000263068" "0" "10" "1" "197113073" "197113073" "subst" "0.880702" "01943" "ASPM_000158" "g.197113073G>A" "" "" "" "ASPM(NM_018136.4):c.441+14C>T, ASPM(NM_018136.5):c.441+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143943G>A" "" "benign" "" "0000263069" "0" "10" "1" "197113064" "197113064" "subst" "0" "01943" "ASPM_000157" "g.197113064T>C" "" "" "" "ASPM(NM_018136.4):c.441+23A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143934T>C" "" "benign" "" "0000263070" "0" "10" "1" "197073932" "197073932" "subst" "0.343539" "01943" "ASPM_000110" "g.197073932T>C" "" "" "" "ASPM(NM_018136.4):c.4449A>G (p.K1483=), ASPM(NM_018136.5):c.4449A>G (p.K1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104802T>C" "" "benign" "" "0000263071" "0" "30" "1" "197073893" "197073893" "subst" "2.55724E-5" "01943" "ASPM_000109" "g.197073893T>C" "" "" "" "ASPM(NM_018136.4):c.4488A>G (p.K1496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104763T>C" "" "likely benign" "" "0000263072" "0" "10" "1" "197073318" "197073318" "subst" "0.00485413" "01943" "ASPM_000108" "g.197073318G>A" "" "" "" "ASPM(NM_018136.4):c.5063C>T (p.T1688I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104188G>A" "" "benign" "" "0000263073" "0" "50" "1" "197073298" "197073298" "subst" "0.00684747" "01943" "ASPM_000107" "g.197073298G>A" "" "" "" "ASPM(NM_018136.4):c.5083C>T (p.R1695C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104168G>A" "" "VUS" "" "0000263074" "0" "30" "1" "197073196" "197073196" "subst" "0.00956971" "01943" "ASPM_000105" "g.197073196G>A" "" "" "" "ASPM(NM_018136.4):c.5185C>T (p.R1729W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104066G>A" "" "likely benign" "" "0000263075" "0" "50" "1" "197073195" "197073195" "subst" "8.97629E-5" "01943" "ASPM_000104" "g.197073195C>T" "" "" "" "ASPM(NM_018136.4):c.5186G>A (p.R1729Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104065C>T" "" "VUS" "" "0000263076" "0" "30" "1" "197072727" "197072727" "subst" "8.18907E-6" "01943" "ASPM_000100" "g.197072727T>C" "" "" "" "ASPM(NM_018136.4):c.5654A>G (p.Y1885C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197103597T>C" "" "likely benign" "" "0000263077" "0" "30" "1" "197072640" "197072640" "subst" "0.000893265" "01943" "ASPM_000098" "g.197072640T>C" "" "" "" "ASPM(NM_018136.4):c.5741A>G (p.Q1914R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197103510T>C" "" "likely benign" "" "0000263078" "0" "30" "1" "197112801" "197112801" "subst" "0.00110786" "01943" "ASPM_000156" "g.197112801G>T" "" "" "" "ASPM(NM_018136.4):c.581C>A (p.A194D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143671G>T" "" "likely benign" "" "0000263079" "0" "50" "1" "197072434" "197072434" "subst" "0.00126821" "01943" "ASPM_000096" "g.197072434T>A" "" "" "" "ASPM(NM_018136.4):c.5947A>T (p.M1983L), ASPM(NM_018136.5):c.5947A>T (p.M1983L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197103304T>A" "" "VUS" "" "0000263080" "0" "30" "1" "197072256" "197072256" "subst" "0.000286118" "01943" "ASPM_000094" "g.197072256T>C" "" "" "" "ASPM(NM_018136.4):c.6125A>G (p.D2042G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197103126T>C" "" "likely benign" "" "0000263081" "0" "30" "1" "197071831" "197071831" "subst" "0.000180106" "01943" "ASPM_000093" "g.197071831G>A" "" "" "" "ASPM(NM_018136.4):c.6550C>T (p.R2184W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197102701G>A" "" "likely benign" "" "0000263082" "0" "30" "1" "197071664" "197071664" "subst" "0.000714939" "01943" "ASPM_000091" "g.197071664C>G" "" "" "" "ASPM(NM_018136.4):c.6717G>C (p.L2239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197102534C>G" "" "likely benign" "" "0000263083" "0" "50" "1" "197112706" "197112706" "subst" "0.000216265" "01943" "ASPM_000154" "g.197112706G>A" "" "" "" "ASPM(NM_018136.4):c.676C>T (p.P226S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143576G>A" "" "VUS" "" "0000263084" "0" "30" "1" "197071358" "197071358" "subst" "0.00220074" "01943" "ASPM_000088" "g.197071358G>A" "" "" "" "ASPM(NM_018136.4):c.7023C>T (p.I2341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197102228G>A" "" "likely benign" "" "0000263085" "0" "30" "1" "197071307" "197071307" "subst" "2.04355E-5" "01943" "ASPM_000087" "g.197071307T>C" "" "" "" "ASPM(NM_018136.4):c.7074A>G (p.K2358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197102177T>C" "" "likely benign" "" "0000263086" "0" "30" "1" "197071028" "197071028" "subst" "0.00302751" "01943" "ASPM_000086" "g.197071028C>T" "" "" "" "ASPM(NM_018136.4):c.7353G>A (p.L2451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101898C>T" "" "likely benign" "" "0000263087" "0" "50" "1" "197071009" "197071009" "subst" "0.000261131" "01943" "ASPM_000085" "g.197071009T>C" "" "" "" "ASPM(NM_018136.4):c.7372A>G (p.R2458G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101879T>C" "" "VUS" "" "0000263088" "0" "50" "1" "197070906" "197070906" "subst" "0.000949927" "01943" "ASPM_000083" "g.197070906C>T" "" "" "" "ASPM(NM_018136.4):c.7475G>A (p.R2492K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101776C>T" "" "VUS" "" "0000263089" "0" "30" "1" "197070827" "197070827" "subst" "0.000837569" "01943" "ASPM_000080" "g.197070827T>C" "" "" "" "ASPM(NM_018136.4):c.7554A>G (p.R2518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101697T>C" "" "likely benign" "" "0000263090" "0" "10" "1" "197070776" "197070776" "subst" "0.256219" "01943" "ASPM_000078" "g.197070776C>T" "" "" "" "ASPM(NM_018136.4):c.7605G>A (p.V2535=), ASPM(NM_018136.5):c.7605G>A (p.V2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101646C>T" "" "benign" "" "0000263091" "0" "30" "1" "197070761" "197070761" "subst" "0.000985645" "01943" "ASPM_000077" "g.197070761T>C" "" "" "" "ASPM(NM_018136.4):c.7620A>G (p.A2540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101631T>C" "" "likely benign" "" "0000263092" "0" "30" "1" "197070707" "197070707" "subst" "0.000432092" "01943" "ASPM_000076" "g.197070707G>T" "" "" "" "ASPM(NM_018136.4):c.7674C>A (p.I2558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101577G>T" "" "likely benign" "" "0000263093" "0" "10" "1" "197070707" "197070707" "subst" "0.336114" "01943" "ASPM_000075" "g.197070707G>A" "" "" "" "ASPM(NM_018136.4):c.7674C>T (p.I2558=), ASPM(NM_018136.5):c.7674C>T (p.I2558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101577G>A" "" "benign" "" "0000263094" "0" "10" "1" "197070697" "197070697" "subst" "0.336384" "01943" "ASPM_000074" "g.197070697T>C" "" "" "" "ASPM(NM_018136.4):c.7684A>G (p.S2562G), ASPM(NM_018136.5):c.7684A>G (p.S2562G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101567T>C" "" "benign" "" "0000263095" "0" "30" "1" "197070532" "197070532" "subst" "0" "01943" "ASPM_000072" "g.197070532T>C" "" "" "" "ASPM(NM_018136.4):c.7849A>G (p.I2617V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101402T>C" "" "likely benign" "" "0000263096" "0" "10" "1" "197070521" "197070521" "subst" "0.0508133" "01943" "ASPM_000071" "g.197070521C>G" "" "" "" "ASPM(NM_018136.4):c.7860G>C (p.Q2620H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101391C>G" "" "benign" "" "0000263097" "0" "30" "1" "197070464" "197070464" "subst" "0.0030369" "01943" "ASPM_000070" "g.197070464T>C" "" "" "" "ASPM(NM_018136.4):c.7917A>G (p.K2639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101334T>C" "" "likely benign" "" "0000263098" "0" "10" "1" "197070442" "197070442" "subst" "0.33557" "01943" "ASPM_000001" "g.197070442G>T" "" "" "" "ASPM(NM_018136.4):c.7939C>A (p.L2647I), ASPM(NM_018136.5):c.7939C>A (p.L2647I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101312G>T" "" "benign" "" "0000263099" "0" "50" "1" "197070313" "197070313" "subst" "0.000298608" "01943" "ASPM_000068" "g.197070313G>A" "" "" "" "ASPM(NM_018136.4):c.8068C>T (p.R2690W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101183G>A" "" "VUS" "" "0000263100" "0" "30" "1" "197115487" "197115487" "subst" "0.000230852" "01943" "ASPM_000162" "g.197115487G>T" "" "" "" "ASPM(NM_018136.4):c.81C>A (p.P27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197146357G>T" "" "likely benign" "" "0000263101" "0" "30" "1" "197070153" "197070153" "subst" "0.000278604" "01943" "ASPM_000066" "g.197070153C>T" "" "" "" "ASPM(NM_018136.4):c.8228G>A (p.R2743Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101023C>T" "" "likely benign" "" "0000263102" "0" "90" "1" "197070145" "197070145" "subst" "0" "01943" "ASPM_000065" "g.197070145G>A" "" "" "" "ASPM(NM_018136.4):c.8236C>T (p.Q2746*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101015G>A" "" "pathogenic" "" "0000263103" "0" "10" "1" "197069932" "197069932" "subst" "0.00182574" "01943" "ASPM_000063" "g.197069932C>A" "" "" "" "ASPM(NM_018136.4):c.8449G>T (p.A2817S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197100802C>A" "" "benign" "" "0000263104" "0" "10" "1" "197112533" "197112533" "subst" "0.88101" "01943" "ASPM_000152" "g.197112533G>A" "" "" "" "ASPM(NM_018136.4):c.849C>T (p.S283=), ASPM(NM_018136.5):c.849C>T (p.S283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143403G>A" "" "benign" "" "0000263105" "0" "50" "1" "197069857" "197069857" "subst" "4.50432E-5" "01943" "ASPM_000062" "g.197069857G>A" "" "" "" "ASPM(NM_018136.4):c.8524C>T (p.R2842W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197100727G>A" "" "VUS" "" "0000263106" "0" "50" "1" "197069826" "197069826" "subst" "0.000114673" "01943" "ASPM_000061" "g.197069826T>C" "" "" "" "ASPM(NM_018136.4):c.8555A>G (p.Y2852C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197100696T>C" "" "VUS" "" "0000263107" "0" "90" "1" "197069818" "197069818" "subst" "0" "01943" "ASPM_000060" "g.197069818T>A" "" "" "" "ASPM(NM_018136.4):c.8563A>T (p.R2855*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197100688T>A" "" "pathogenic" "" "0000263108" "0" "10" "1" "197069554" "197069554" "subst" "0.00252265" "01943" "ASPM_000057" "g.197069554G>C" "" "" "" "ASPM(NM_018136.4):c.8820+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197100424G>C" "" "benign" "" "0000263109" "0" "30" "1" "197065149" "197065149" "subst" "0.000241066" "01943" "ASPM_000056" "g.197065149T>C" "" "" "" "ASPM(NM_001206846.1):c.4211A>G (p.(Tyr1404Cys)), ASPM(NM_018136.4):c.8966A>G (p.Y2989C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197096019T>C" "" "likely benign" "" "0000263110" "0" "30" "1" "197112449" "197112449" "subst" "0.000747925" "01943" "ASPM_000150" "g.197112449G>C" "" "" "" "ASPM(NM_001206846.1):c.933C>G (p.(Ser311Arg)), ASPM(NM_018136.4):c.933C>G (p.S311R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143319G>C" "" "likely benign" "" "0000263111" "0" "10" "1" "197059382" "197059382" "subst" "0.00196058" "01943" "ASPM_000047" "g.197059382T>C" "" "" "" "ASPM(NM_018136.4):c.9773A>G (p.H3258R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197090252T>C" "" "benign" "" "0000263112" "0" "50" "1" "197059133" "197059133" "subst" "0.000244714" "01943" "ASPM_000046" "g.197059133C>T" "" "" "" "ASPM(NM_018136.4):c.9911G>A (p.R3304Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197090003C>T" "" "VUS" "" "0000321188" "0" "30" "1" "197061163" "197061163" "subst" "4.07917E-6" "01804" "ASPM_000053" "g.197061163A>C" "" "" "" "ASPM(NM_001206846.1):c.4563T>G (p.(Ile1521Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197092033A>C" "" "likely benign" "" "0000321189" "0" "50" "1" "197063274" "197063274" "subst" "0" "01804" "ASPM_000055" "g.197063274C>A" "" "" "" "ASPM(NM_018136.5):c.9024G>T (p.(Gln3008His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197094144C>A" "" "VUS" "" "0000321190" "0" "50" "1" "197065149" "197065149" "subst" "0.000241066" "01804" "ASPM_000056" "g.197065149T>C" "" "" "" "ASPM(NM_001206846.1):c.4211A>G (p.(Tyr1404Cys)), ASPM(NM_018136.4):c.8966A>G (p.Y2989C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197096019T>C" "" "VUS" "" "0000321191" "0" "50" "1" "197069791" "197069791" "subst" "9.41003E-5" "01804" "ASPM_000059" "g.197069791T>C" "" "" "" "ASPM(NM_018136.4):c.8590A>G (p.(Ile2864Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197100661T>C" "" "VUS" "" "0000321193" "0" "50" "1" "197070045" "197070045" "subst" "0" "01804" "ASPM_000064" "g.197070045C>T" "" "" "" "ASPM(NM_018136.4):c.8336G>A (p.(Arg2779Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197100915C>T" "" "VUS" "" "0000321194" "0" "50" "1" "197070215" "197070215" "subst" "0.00129271" "01804" "ASPM_000067" "g.197070215A>G" "" "" "" "ASPM(NM_001206846.1):c.4066-4921T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101085A>G" "" "VUS" "" "0000321196" "0" "50" "1" "197070589" "197070589" "subst" "0" "01804" "ASPM_000073" "g.197070589G>A" "" "" "" "ASPM(NM_018136.4):c.7792C>T (p.(Gln2598Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101459G>A" "" "VUS" "" "0000321197" "0" "50" "1" "197070816" "197070816" "subst" "0.00208837" "01804" "ASPM_000079" "g.197070816A>C" "" "" "" "ASPM(NM_018136.4):c.7565T>G (p.(Leu2522Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101686A>C" "" "VUS" "" "0000321198" "0" "50" "1" "197070999" "197070999" "subst" "0" "01804" "ASPM_000084" "g.197070999G>A" "" "" "" "ASPM(NM_018136.4):c.7382C>T (p.(Ala2461Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101869G>A" "" "VUS" "" "0000321200" "0" "50" "1" "197071737" "197071739" "del" "0" "01804" "ASPM_000092" "g.197071737_197071739del" "" "" "" "ASPM(NM_018136.4):c.6644_6646del (p.(Ile2215del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197102607_197102609del" "" "VUS" "" "0000321201" "0" "50" "1" "197072314" "197072314" "subst" "2.45805E-5" "01804" "ASPM_000095" "g.197072314C>A" "" "" "" "ASPM(NM_018136.4):c.6067G>T (p.(Ala2023Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197103184C>A" "" "VUS" "" "0000321203" "0" "50" "1" "197072697" "197072697" "subst" "0" "01804" "ASPM_000099" "g.197072697C>A" "" "" "" "ASPM(NM_018136.4):c.5684G>T (p.(Arg1895Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197103567C>A" "" "VUS" "" "0000321205" "0" "50" "1" "197073175" "197073175" "subst" "0.00213046" "01804" "ASPM_000103" "g.197073175G>C" "" "" "" "ASPM(NM_018136.4):c.5206C>G (p.(Gln1736Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104045G>C" "" "VUS" "" "0000321209" "0" "50" "1" "197097666" "197097666" "subst" "8.12275E-6" "01804" "ASPM_000130" "g.197097666C>T" "" "" "" "ASPM(NM_001206846.1):c.2890G>A (p.(Ala964Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197128536C>T" "" "VUS" "" "0000321212" "0" "50" "1" "197102681" "197102681" "subst" "0.00206862" "01804" "ASPM_000140" "g.197102681T>A" "" "" "" "ASPM(NM_001206846.1):c.2218A>T (p.(Ile740Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197133551T>A" "" "VUS" "" "0000321213" "0" "50" "1" "197111931" "197111931" "subst" "0.00206519" "01804" "ASPM_000147" "g.197111931T>C" "" "" "" "ASPM(NM_001206846.1):c.1451A>G (p.(Asn484Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197142801T>C" "" "VUS" "" "0000321214" "0" "50" "1" "197112375" "197112375" "subst" "0.00135311" "01804" "ASPM_000149" "g.197112375G>T" "" "" "" "ASPM(NM_001206846.1):c.1007C>A (p.(Thr336Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143245G>T" "" "VUS" "" "0000321216" "0" "50" "1" "197112449" "197112449" "subst" "0.000747925" "01804" "ASPM_000150" "g.197112449G>C" "" "" "" "ASPM(NM_001206846.1):c.933C>G (p.(Ser311Arg)), ASPM(NM_018136.4):c.933C>G (p.S311R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143319G>C" "" "VUS" "" "0000321217" "0" "50" "1" "197112477" "197112477" "subst" "0.00135737" "01804" "ASPM_000151" "g.197112477C>T" "" "" "" "ASPM(NM_001206846.1):c.905G>A (p.(Cys302Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143347C>T" "" "VUS" "" "0000321219" "0" "50" "1" "197112538" "197112538" "subst" "0.00136129" "01804" "ASPM_000153" "g.197112538T>G" "" "" "" "ASPM(NM_001206846.1):c.844A>C (p.(Asn282His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143408T>G" "" "VUS" "" "0000321221" "0" "50" "1" "197112738" "197112738" "subst" "0.00207815" "01804" "ASPM_000155" "g.197112738T>G" "" "" "" "ASPM(NM_001206846.1):c.644A>C (p.(Glu215Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143608T>G" "" "VUS" "" "0000321222" "0" "50" "1" "197115345" "197115345" "subst" "0.00236405" "01804" "ASPM_000159" "g.197115345C>T" "" "" "" "ASPM(NM_001206846.1):c.223G>A (p.(Ala75Thr)), ASPM(NM_018136.4):c.223G>A (p.A75T), ASPM(NM_018136.5):c.223G>A (p.A75T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197146215C>T" "" "VUS" "" "0000337427" "0" "10" "1" "197091183" "197091183" "subst" "0.00693568" "02327" "ASPM_000120" "g.197091183A>C" "" "" "" "ASPM(NM_018136.4):c.3742-10T>G, ASPM(NM_018136.5):c.3742-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122053A>C" "" "benign" "" "0000339597" "0" "10" "1" "197060124" "197060124" "subst" "0.00245338" "02327" "ASPM_000051" "g.197060124A>G" "" "" "" "ASPM(NM_018136.4):c.9492T>C (p.Y3164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197090994A>G" "" "benign" "" "0000339598" "0" "10" "1" "197070707" "197070707" "subst" "0.336114" "02327" "ASPM_000075" "g.197070707G>A" "" "" "" "ASPM(NM_018136.4):c.7674C>T (p.I2558=), ASPM(NM_018136.5):c.7674C>T (p.I2558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101577G>A" "" "benign" "" "0000339599" "0" "10" "1" "197070776" "197070776" "subst" "0.256219" "02327" "ASPM_000078" "g.197070776C>T" "" "" "" "ASPM(NM_018136.4):c.7605G>A (p.V2535=), ASPM(NM_018136.5):c.7605G>A (p.V2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101646C>T" "" "benign" "" "0000339600" "0" "10" "1" "197070815" "197070815" "subst" "0.895741" "02327" "ASPM_000170" "g.197070815T>C" "" "" "" "ASPM(NM_018136.4):c.7566A>G (p.L2522=), ASPM(NM_018136.5):c.7566A>G (p.L2522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101685T>C" "" "benign" "" "0000339601" "0" "10" "1" "197072420" "197072420" "subst" "0.336562" "02327" "ASPM_000171" "g.197072420T>C" "" "" "" "ASPM(NM_018136.4):c.5961A>G (p.Q1987=), ASPM(NM_018136.5):c.5961A>G (p.Q1987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197103290T>C" "" "benign" "" "0000339602" "0" "10" "1" "197073932" "197073932" "subst" "0.343539" "02327" "ASPM_000110" "g.197073932T>C" "" "" "" "ASPM(NM_018136.4):c.4449A>G (p.K1483=), ASPM(NM_018136.5):c.4449A>G (p.K1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104802T>C" "" "benign" "" "0000339603" "0" "10" "1" "197091537" "197091537" "subst" "0.888047" "02327" "ASPM_000122" "g.197091537A>T" "" "" "" "ASPM(NM_018136.4):c.3579T>A (p.S1193=), ASPM(NM_018136.5):c.3579T>A (p.S1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197122407A>T" "" "benign" "" "0000339604" "0" "10" "1" "197108946" "197108946" "subst" "0.0445296" "02327" "ASPM_000143" "g.197108946A>G" "" "" "" "ASPM(NM_018136.4):c.1977T>C (p.I659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197139816A>G" "" "benign" "" "0000339605" "0" "10" "1" "197112533" "197112533" "subst" "0.88101" "02327" "ASPM_000152" "g.197112533G>A" "" "" "" "ASPM(NM_018136.4):c.849C>T (p.S283=), ASPM(NM_018136.5):c.849C>T (p.S283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143403G>A" "" "benign" "" "0000341823" "0" "90" "1" "197091104" "197091104" "subst" "1.22305E-5" "02327" "ASPM_000117" "g.197091104G>A" "" "" "" "ASPM(NM_018136.5):c.3811C>T (p.R1271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197121974G>A" "" "pathogenic" "" "0000341896" "0" "90" "1" "197074207" "197074207" "subst" "2.86292E-5" "02327" "ASPM_000174" "g.197074207G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197105077G>A" "" "pathogenic" "" "0000342593" "0" "90" "1" "197062286" "197062286" "subst" "2.85915E-5" "02327" "ASPM_000166" "g.197062286G>A" "" "" "" "ASPM(NM_018136.4):c.9190C>T (p.R3064*), ASPM(NM_018136.5):c.9190C>T (p.R3064*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197093156G>A" "" "pathogenic" "" "0000342637" "0" "90" "1" "197059458" "197059458" "subst" "8.16073E-6" "02327" "ASPM_000164" "g.197059458G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197090328G>A" "" "pathogenic" "" "0000344142" "0" "10" "1" "197111650" "197111650" "subst" "0.00207629" "02327" "ASPM_000145" "g.197111650C>T" "" "" "" "ASPM(NM_018136.4):c.1732G>A (p.D578N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197142520C>T" "" "benign" "" "0000344711" "0" "90" "1" "197070589" "197070589" "subst" "0" "02327" "ASPM_000073" "g.197070589G>A" "" "" "" "ASPM(NM_018136.4):c.7792C>T (p.(Gln2598Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101459G>A" "" "pathogenic" "" "0000344730" "0" "90" "1" "197069877" "197069878" "del" "0" "02327" "ASPM_000167" "g.197069877_197069878del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197100747_197100748del" "" "pathogenic" "" "0000347049" "0" "10" "1" "197070442" "197070442" "subst" "0.33557" "02327" "ASPM_000001" "g.197070442G>T" "" "" "" "ASPM(NM_018136.4):c.7939C>A (p.L2647I), ASPM(NM_018136.5):c.7939C>A (p.L2647I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101312G>T" "" "benign" "" "0000347104" "0" "10" "1" "197061086" "197061086" "subst" "0.0344603" "02327" "ASPM_000052" "g.197061086A>C" "" "" "" "ASPM(NM_018136.4):c.9395T>G (p.L3132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197091956A>C" "" "benign" "" "0000348873" "0" "10" "1" "197070697" "197070697" "subst" "0.336384" "02327" "ASPM_000074" "g.197070697T>C" "" "" "" "ASPM(NM_018136.4):c.7684A>G (p.S2562G), ASPM(NM_018136.5):c.7684A>G (p.S2562G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101567T>C" "" "benign" "" "0000349932" "0" "90" "1" "197073674" "197073674" "subst" "0" "02327" "ASPM_000173" "g.197073674G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197104544G>T" "" "pathogenic" "" "0000350001" "0" "10" "1" "197070901" "197070901" "subst" "0.996275" "02327" "ASPM_000082" "g.197070901A>G" "" "" "" "ASPM(NM_018136.4):c.7480T>C (p.Y2494H), ASPM(NM_018136.5):c.7480T>C (p.Y2494H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197101771A>G" "" "benign" "" "0000351000" "0" "10" "1" "197055925" "197055925" "subst" "0.888166" "02327" "ASPM_000041" "g.197055925T>C" "" "" "" "ASPM(NM_018136.4):c.10331+8A>G, ASPM(NM_018136.5):c.10331+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197086795T>C" "" "benign" "" "0000351002" "0" "10" "1" "197102468" "197102468" "subst" "0.0162812" "02327" "ASPM_000136" "g.197102468C>T" "" "" "" "ASPM(NM_018136.4):c.2419+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197133338C>T" "" "benign" "" "0000351003" "0" "10" "1" "197102745" "197102745" "subst" "0.256629" "02327" "ASPM_000141" "g.197102745A>G" "" "" "" "ASPM(NM_018136.4):c.2174-20T>C, ASPM(NM_018136.5):c.2174-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197133615A>G" "" "benign" "" "0000351004" "0" "10" "1" "197113073" "197113073" "subst" "0.880702" "02327" "ASPM_000158" "g.197113073G>A" "" "" "" "ASPM(NM_018136.4):c.441+14C>T, ASPM(NM_018136.5):c.441+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.197143943G>A" "" "benign" "" "0000356925" "0" "90" "1" "197070248" "197070251" "del" "0" "01807" "ASPM_000179" "g.197070248_197070251del" "" "" "" "8133_8136delGAAA" "" "Unknown" "" "" "0" "" "" "g.197101118_197101121del" "" "pathogenic" "" "0000356926" "0" "90" "1" "197112577" "197112578" "del" "0" "01807" "ASPM_000180" "g.197112577_197112578del" "" "" "" "804_805delAG" "" "Unknown" "" "" "0" "" "" "g.197143447_197143448del" "" "pathogenic" "" "0000440052" "3" "90" "1" "197087040" "197087041" "del" "0" "01164" "ASPM_000183" "g.197087040_197087041del" "" "" "" "" "ACMG grading: PM3,PM2,PVS1; reported in Passemard 2009. Neurology 73: 1170" "Germline" "" "rs587783240" "0" "" "" "g.197117910_197117911del" "" "pathogenic" "ACMG" "0000504622" "0" "30" "1" "197053576" "197053576" "dup" "0" "01804" "ASPM_000184" "g.197053576dup" "" "" "" "ASPM(NM_001206846.1):c.5577-6dup (p.(=)), ASPM(NM_018136.4):c.10332-6dupT, ASPM(NM_018136.5):c.10332-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197084446dup" "" "likely benign" "" "0000504623" "0" "50" "1" "197057390" "197057390" "subst" "0" "01943" "ASPM_000185" "g.197057390G>A" "" "" "" "ASPM(NM_018136.4):c.10157C>T (p.A3386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197088260G>A" "" "VUS" "" "0000504624" "0" "50" "1" "197059119" "197059119" "subst" "0" "01804" "ASPM_000186" "g.197059119T>C" "" "" "" "ASPM(NM_018136.4):c.9925A>G (p.(Ser3309Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197089989T>C" "" "VUS" "" "0000504625" "0" "50" "1" "197059131" "197059131" "subst" "0" "01804" "ASPM_000187" "g.197059131T>G" "" "" "" "ASPM(NM_018136.4):c.9913A>C (p.(Ser3305Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197090001T>G" "" "VUS" "" "0000504626" "0" "30" "1" "197059212" "197059212" "subst" "8.16373E-6" "01804" "ASPM_000188" "g.197059212C>T" "" "" "" "ASPM(NM_001206846.1):c.5077G>A (p.(Val1693Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197090082C>T" "" "likely benign" "" "0000504627" "0" "90" "1" "197059366" "197059366" "subst" "0" "02325" "ASPM_000189" "g.197059366A>C" "" "" "" "ASPM(NM_018136.5):c.9789T>G (p.Y3263*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197090236A>C" "" "pathogenic" "" "0000504629" "0" "50" "1" "197059514" "197059514" "subst" "7.39943E-5" "01943" "ASPM_000190" "g.197059514A>G" "" "" "" "ASPM(NM_018136.4):c.9641T>C (p.L3214S), ASPM(NM_018136.5):c.9641T>C (p.(Leu3214Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197090384A>G" "" "VUS" "" "0000504630" "0" "30" "1" "197060023" "197060023" "subst" "4.48445E-5" "01943" "ASPM_000191" "g.197060023C>T" "" "" "" "ASPM(NM_018136.4):c.9593G>A (p.R3198H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197090893C>T" "" "likely benign" "" "0000504631" "0" "30" "1" "197060077" "197060077" "subst" "0.00478291" "01804" "ASPM_000050" "g.197060077T>G" "" "" "" "ASPM(NM_001206846.1):c.4784A>C (p.(Gln1595Pro)), ASPM(NM_018136.5):c.9539A>C (p.Q3180P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197090947T>G" "" "likely benign" "" "0000504632" "0" "50" "1" "197061086" "197061086" "subst" "0.000105956" "01943" "ASPM_000192" "g.197061086A>G" "" "" "" "ASPM(NM_018136.4):c.9395T>C (p.L3132P), ASPM(NM_018136.5):c.9395T>C (p.(Leu3132Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197091956A>G" "" "VUS" "" "0000504633" "0" "30" "1" "197062222" "197062222" "subst" "0.00169115" "01943" "ASPM_000193" "g.197062222A>G" "" "" "" "ASPM(NM_001206846.1):c.4499T>C (p.(Ile1500Thr)), ASPM(NM_018136.4):c.9254T>C (p.I3085T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197093092A>G" "" "likely benign" "" "0000504634" "0" "30" "1" "197062222" "197062222" "subst" "0.00169115" "01804" "ASPM_000193" "g.197062222A>G" "" "" "" "ASPM(NM_001206846.1):c.4499T>C (p.(Ile1500Thr)), ASPM(NM_018136.4):c.9254T>C (p.I3085T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197093092A>G" "" "likely benign" "" "0000504635" "0" "90" "1" "197062286" "197062286" "subst" "2.85915E-5" "01943" "ASPM_000166" "g.197062286G>A" "" "" "" "ASPM(NM_018136.4):c.9190C>T (p.R3064*), ASPM(NM_018136.5):c.9190C>T (p.R3064*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197093156G>A" "" "pathogenic" "" "0000504636" "0" "50" "1" "197062361" "197062361" "subst" "0" "01943" "ASPM_000194" "g.197062361G>C" "" "" "" "ASPM(NM_018136.4):c.9115C>G (p.H3039D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197093231G>C" "" "VUS" "" "0000504637" "0" "30" "1" "197062394" "197062394" "subst" "5.7492E-5" "01804" "ASPM_000181" "g.197062394A>G" "" "" "" "ASPM(NM_001206846.1):c.4330-3T>C (p.?), ASPM(NM_018136.4):c.9085-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197093264A>G" "" "likely benign" "" "0000504638" "0" "50" "1" "197070178" "197070178" "subst" "0.00182366" "01943" "ASPM_000195" "g.197070178A>C" "" "" "" "ASPM(NM_018136.4):c.8203T>G (p.F2735V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197101048A>C" "" "VUS" "" "0000504640" "0" "90" "1" "197070599" "197070600" "del" "0" "01943" "ASPM_000168" "g.197070599_197070600del" "" "" "" "ASPM(NM_018136.4):c.7782_7783delGA (p.K2595Sfs*6), ASPM(NM_018136.5):c.7782_7783delGA (p.K2595Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197101469_197101470del" "" "pathogenic" "" "0000504641" "0" "10" "1" "197070815" "197070815" "subst" "0.895741" "01943" "ASPM_000170" "g.197070815T>C" "" "" "" "ASPM(NM_018136.4):c.7566A>G (p.L2522=), ASPM(NM_018136.5):c.7566A>G (p.L2522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197101685T>C" "" "benign" "" "0000504642" "0" "10" "1" "197070815" "197070815" "subst" "0.895741" "02325" "ASPM_000170" "g.197070815T>C" "" "" "" "ASPM(NM_018136.4):c.7566A>G (p.L2522=), ASPM(NM_018136.5):c.7566A>G (p.L2522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197101685T>C" "" "benign" "" "0000504643" "0" "30" "1" "197071202" "197071202" "subst" "0.000362904" "01943" "ASPM_000196" "g.197071202A>T" "" "" "" "ASPM(NM_018136.4):c.7179T>A (p.A2393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197102072A>T" "" "likely benign" "" "0000504644" "0" "50" "1" "197071293" "197071293" "subst" "0" "01943" "ASPM_000197" "g.197071293A>C" "" "" "" "ASPM(NM_018136.4):c.7088T>G (p.V2363G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197102163A>C" "" "VUS" "" "0000504645" "0" "50" "1" "197071360" "197071360" "subst" "4.0821E-6" "01943" "ASPM_000198" "g.197071360T>A" "" "" "" "ASPM(NM_018136.4):c.7021A>T (p.I2341F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197102230T>A" "" "VUS" "" "0000504646" "0" "30" "1" "197072106" "197072106" "subst" "9.78729E-5" "01943" "ASPM_000199" "g.197072106T>A" "" "" "" "ASPM(NM_018136.4):c.6275A>T (p.N2092I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197102976T>A" "" "likely benign" "" "0000504647" "0" "50" "1" "197072250" "197072250" "subst" "0.000114419" "01943" "ASPM_000200" "g.197072250T>C" "" "" "" "ASPM(NM_018136.4):c.6131A>G (p.N2044S), ASPM(NM_018136.5):c.6131A>G (p.N2044S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197103120T>C" "" "VUS" "" "0000504648" "0" "30" "1" "197072250" "197072250" "subst" "0.000114419" "02325" "ASPM_000200" "g.197072250T>C" "" "" "" "ASPM(NM_018136.4):c.6131A>G (p.N2044S), ASPM(NM_018136.5):c.6131A>G (p.N2044S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197103120T>C" "" "likely benign" "" "0000504649" "0" "10" "1" "197072420" "197072420" "subst" "0.336562" "01943" "ASPM_000171" "g.197072420T>C" "" "" "" "ASPM(NM_018136.4):c.5961A>G (p.Q1987=), ASPM(NM_018136.5):c.5961A>G (p.Q1987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197103290T>C" "" "benign" "" "0000504650" "0" "10" "1" "197072420" "197072420" "subst" "0.336562" "02325" "ASPM_000171" "g.197072420T>C" "" "" "" "ASPM(NM_018136.4):c.5961A>G (p.Q1987=), ASPM(NM_018136.5):c.5961A>G (p.Q1987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197103290T>C" "" "benign" "" "0000504652" "0" "30" "1" "197072678" "197072678" "subst" "0" "01943" "ASPM_000201" "g.197072678G>A" "" "" "" "ASPM(NM_018136.4):c.5703C>T (p.A1901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197103548G>A" "" "likely benign" "" "0000504653" "0" "10" "1" "197072802" "197072802" "subst" "0.00488537" "01943" "ASPM_000202" "g.197072802G>A" "" "" "" "ASPM(NM_018136.4):c.5579C>T (p.A1860V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197103672G>A" "" "benign" "" "0000504655" "0" "50" "1" "197072988" "197072990" "del" "0" "01804" "ASPM_000203" "g.197072988_197072990del" "" "" "" "ASPM(NM_018136.4):c.5394_5396del (p.(Phe1798del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197103858_197103860del" "" "VUS" "" "0000504656" "0" "30" "1" "197073048" "197073048" "subst" "3.67254E-5" "01943" "ASPM_000204" "g.197073048A>G" "" "" "" "ASPM(NM_018136.4):c.5333T>C (p.I1778T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197103918A>G" "" "likely benign" "" "0000504659" "0" "30" "1" "197074168" "197074168" "subst" "0.00525863" "01804" "ASPM_000114" "g.197074168G>A" "" "" "" "ASPM(NM_018136.4):c.4213C>T (p.R1405C, p.(Arg1405Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197105038G>A" "" "likely benign" "" "0000504660" "0" "50" "1" "197074265" "197074267" "del" "0" "01804" "ASPM_000115" "g.197074265_197074267del" "" "" "" "ASPM(NM_018136.4):c.4118_4120delATT (p.(Tyr1373del)), ASPM(NM_018136.4):c.4118_4120delATT (p.Y1373del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197105135_197105137del" "" "VUS" "" "0000504661" "0" "50" "1" "197091055" "197091055" "subst" "0" "01804" "ASPM_000205" "g.197091055T>C" "" "" "" "ASPM(NM_001206846.1):c.3860A>G (p.(Lys1287Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197121925T>C" "" "VUS" "" "0000504663" "0" "10" "1" "197091286" "197091286" "subst" "0.00141388" "01943" "ASPM_000035" "g.197091286T>C" "" "" "" "ASPM(NM_018136.4):c.3741+3A>G, ASPM(NM_018136.5):c.3741+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197122156T>C" "" "benign" "" "0000504665" "0" "30" "1" "197093361" "197093361" "subst" "0.010588" "01804" "ASPM_000127" "g.197093361G>A" "" "" "" "ASPM(NM_001206846.1):c.3269C>T (p.(Ser1090Phe)), ASPM(NM_018136.4):c.3269C>T (p.S1090F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197124231G>A" "" "likely benign" "" "0000504666" "0" "90" "1" "197099179" "197099179" "dup" "0" "01943" "ASPM_000208" "g.197099179dup" "" "" "" "ASPM(NM_018136.4):c.2495dupA (p.Y832*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197130049dup" "" "pathogenic" "" "0000504667" "0" "30" "1" "197108974" "197108974" "subst" "5.68657E-5" "01943" "ASPM_000209" "g.197108974G>C" "" "" "" "ASPM(NM_018136.4):c.1949C>G (p.S650C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197139844G>C" "" "likely benign" "" "0000504668" "0" "90" "1" "197109002" "197109002" "subst" "0" "02325" "ASPM_000210" "g.197109002C>T" "" "" "" "ASPM(NM_018136.5):c.1922-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197139872C>T" "" "pathogenic" "" "0000504669" "0" "30" "1" "197111693" "197111693" "subst" "0.00013411" "01943" "ASPM_000211" "g.197111693T>C" "" "" "" "ASPM(NM_018136.4):c.1689A>G (p.T563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197142563T>C" "" "likely benign" "" "0000504670" "0" "30" "1" "197111915" "197111915" "subst" "0.000276416" "01943" "ASPM_000212" "g.197111915T>C" "" "" "" "ASPM(NM_018136.4):c.1467A>G (p.R489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197142785T>C" "" "likely benign" "" "0000504672" "0" "30" "1" "197112670" "197112670" "subst" "6.91963E-5" "01943" "ASPM_000213" "g.197112670G>A" "" "" "" "ASPM(NM_018136.4):c.712C>T (p.P238S), ASPM(NM_018136.5):c.712C>T (p.(Pro238Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197143540G>A" "" "likely benign" "" "0000605047" "0" "30" "1" "197062364" "197062364" "subst" "0" "01804" "ASPM_000214" "g.197062364C>T" "" "" "" "ASPM(NM_001206846.1):c.4357G>A (p.(Ala1453Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197093234C>T" "" "likely benign" "" "0000605048" "0" "30" "1" "197072134" "197072134" "subst" "4.07867E-6" "01804" "ASPM_000215" "g.197072134T>C" "" "" "" "ASPM(NM_018136.4):c.6247A>G (p.(Thr2083Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197103004T>C" "" "likely benign" "" "0000620463" "0" "30" "1" "197112880" "197112880" "subst" "5.30301E-5" "01943" "ASPM_000217" "g.197112880T>G" "" "" "" "ASPM(NM_018136.4):c.502A>C (p.R168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197143750T>G" "" "likely benign" "" "0000630938" "3" "90" "1" "197060124" "197060124" "subst" "0" "00006" "ASPM_000219" "g.197060124A>C" "" "{PMID:Santos-Cortez 2018:30167849}" "" "c.2492T>G" "" "Germline" "" "" "0" "" "" "g.197090994A>C" "" "pathogenic (recessive)" "" "0000630939" "3" "90" "1" "197060124" "197060124" "subst" "0" "00006" "ASPM_000219" "g.197060124A>C" "" "{PMID:Santos-Cortez 2018:30167849}" "" "c.2492T>G" "" "Germline" "" "" "0" "" "" "g.197090994A>C" "" "pathogenic (recessive)" "" "0000630940" "3" "90" "1" "197060124" "197060124" "subst" "0" "00006" "ASPM_000219" "g.197060124A>C" "" "{PMID:Santos-Cortez 2018:30167849}" "" "c.2492T>G" "" "Germline" "" "" "0" "" "" "g.197090994A>C" "" "pathogenic (recessive)" "" "0000630941" "3" "90" "1" "197060124" "197060124" "subst" "0" "00006" "ASPM_000219" "g.197060124A>C" "" "{PMID:Santos-Cortez 2018:30167849}" "" "c.2492T>G" "" "Germline" "" "" "0" "" "" "g.197090994A>C" "" "pathogenic (recessive)" "" "0000630953" "3" "90" "1" "197059474" "197059474" "del" "0" "00006" "ASPM_000218" "g.197059474del" "" "{PMID:Santos-Cortez 2018:30167849}" "" "9685delA" "" "Germline" "" "" "0" "" "" "g.197090344del" "" "pathogenic (recessive)" "" "0000630954" "3" "90" "1" "197059474" "197059474" "del" "0" "00006" "ASPM_000218" "g.197059474del" "" "{PMID:Santos-Cortez 2018:30167849}" "" "9685delA" "" "Germline" "" "" "0" "" "" "g.197090344del" "" "pathogenic (recessive)" "" "0000630955" "3" "90" "1" "197059474" "197059474" "del" "0" "00006" "ASPM_000218" "g.197059474del" "" "{PMID:Santos-Cortez 2018:30167849}" "" "9685delA" "" "Germline" "" "" "0" "" "" "g.197090344del" "" "pathogenic (recessive)" "" "0000647488" "1" "90" "1" "197059458" "197059458" "subst" "8.16073E-6" "03575" "ASPM_000164" "g.197059458G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199422194}" "Germline" "" "rs199422194" "0" "" "" "g.197090328G>A" "" "pathogenic" "" "0000647489" "1" "50" "1" "197060077" "197060077" "subst" "0.00478291" "03575" "ASPM_000050" "g.197060077T>G" "192/2707 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 192 heterozygous; {DB:CLININrs193251130}" "Germline" "" "rs193251130" "0" "" "" "g.197090947T>G" "" "VUS" "" "0000647490" "1" "90" "1" "197069669" "197069670" "del" "1.63516E-5" "03575" "ASPM_000220" "g.197069669_197069670del" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783283}" "Germline" "" "rs587783283" "0" "" "" "g.197100539_197100540del" "" "pathogenic" "" "0000647491" "1" "50" "1" "197070313" "197070313" "subst" "0.000298608" "03575" "ASPM_000068" "g.197070313G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs41302133}" "Germline" "" "rs41302133" "0" "" "" "g.197101183G>A" "" "VUS" "" "0000647492" "1" "90" "1" "197070556" "197070556" "subst" "0" "03575" "ASPM_000221" "g.197070556G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783272}" "Germline" "" "rs587783272" "0" "" "" "g.197101426G>A" "" "pathogenic" "" "0000647493" "1" "50" "1" "197072871" "197072871" "subst" "0.000516427" "03575" "ASPM_000222" "g.197072871C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs144969324}" "Germline" "" "rs144969324" "0" "" "" "g.197103741C>T" "" "VUS" "" "0000647494" "1" "50" "1" "197073196" "197073196" "subst" "0.00956971" "03575" "ASPM_000105" "g.197073196G>A" "46/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 46 heterozygous, no homozygous; {DB:CLININrs41299623}" "Germline" "" "rs41299623" "0" "" "" "g.197104066G>A" "" "VUS" "" "0000647495" "1" "50" "1" "197074168" "197074168" "subst" "0.00525863" "03575" "ASPM_000114" "g.197074168G>A" "55/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 55 heterozygous; {DB:CLININrs139367209}" "Germline" "" "rs139367209" "0" "" "" "g.197105038G>A" "" "VUS" "" "0000647496" "1" "50" "1" "197098326" "197098326" "subst" "0.0148697" "03575" "ASPM_000133" "g.197098326G>A" "53/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 53 heterozygous, no homozygous; {DB:CLININrs33987824}" "Germline" "" "rs33987824" "0" "" "" "g.197129196G>A" "" "VUS" "" "0000647497" "1" "50" "1" "197102632" "197102632" "subst" "0.0014218" "03575" "ASPM_000139" "g.197102632T>C" "41/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "41 heterozygous; {DB:CLININrs201066146}" "Germline" "" "rs201066146" "0" "" "" "g.197133502T>C" "" "VUS" "" "0000652967" "1" "30" "1" "197061086" "197061086" "subst" "0.0344603" "03575" "ASPM_000052" "g.197061086A>C" "107/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "107 heterozygous; {DB:CLININrs36004306}" "Germline" "" "rs36004306" "0" "" "" "g.197091956A>C" "" "likely benign" "" "0000653214" "1" "90" "1" "197087023" "197087024" "ins" "1.2214E-5" "03575" "ASPM_000223" "g.197087023_197087024insT" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs759632528}" "Germline" "" "rs759632528" "0" "" "" "g.197117893_197117894insT" "" "pathogenic" "" "0000653838" "0" "90" "1" "197069961" "197069961" "del" "0" "02325" "ASPM_000224" "g.197069961del" "" "" "" "ASPM(NM_018136.5):c.8420delA (p.Q2807Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197100831del" "" "pathogenic" "" "0000653839" "0" "30" "1" "197093319" "197093319" "subst" "9.35758E-5" "01943" "ASPM_000225" "g.197093319C>T" "" "" "" "ASPM(NM_018136.4):c.3311G>A (p.G1104D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197124189C>T" "" "likely benign" "" "0000653840" "0" "50" "1" "197102534" "197102534" "subst" "9.35066E-5" "01943" "ASPM_000226" "g.197102534T>C" "" "" "" "ASPM(NM_018136.4):c.2365A>G (p.I789V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.197133404T>C" "" "VUS" "" "0000668989" "3" "50" "1" "197060077" "197060077" "subst" "0.00478291" "03575" "ASPM_000050" "g.197060077T>G" "10/2707 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 10 homozygous; {DB:CLININrs193251130}" "Germline" "" "rs193251130" "0" "" "" "g.197090947T>G" "" "VUS" "" "0000668990" "3" "50" "1" "197074168" "197074168" "subst" "0.00525863" "03575" "ASPM_000114" "g.197074168G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs139367209}" "Germline" "" "rs139367209" "0" "" "" "g.197105038G>A" "" "VUS" "" "0000668991" "3" "50" "1" "197102632" "197102632" "subst" "0.0014218" "03575" "ASPM_000139" "g.197102632T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs201066146}" "Germline" "" "rs201066146" "0" "" "" "g.197133502T>C" "" "VUS" "" "0000670140" "3" "30" "1" "197061086" "197061086" "subst" "0.0344603" "03575" "ASPM_000052" "g.197061086A>C" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs36004306}" "Germline" "" "rs36004306" "0" "" "" "g.197091956A>C" "" "likely benign" "" "0000675588" "0" "30" "1" "197073025" "197073025" "subst" "0" "01943" "ASPM_000227" "g.197073025G>C" "" "" "" "ASPM(NM_018136.4):c.5356C>G (p.H1786D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675589" "0" "30" "1" "197104221" "197104221" "subst" "0" "01943" "ASPM_000228" "g.197104221T>A" "" "" "" "ASPM(NM_018136.4):c.2173+5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687973" "0" "30" "1" "197072434" "197072434" "subst" "0.00126821" "02326" "ASPM_000096" "g.197072434T>A" "" "" "" "ASPM(NM_018136.4):c.5947A>T (p.M1983L), ASPM(NM_018136.5):c.5947A>T (p.M1983L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687974" "0" "30" "1" "197074268" "197074268" "subst" "4.10364E-6" "01943" "ASPM_000229" "g.197074268T>C" "" "" "" "ASPM(NM_018136.4):c.4113A>G (p.K1371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687975" "0" "90" "1" "197091070" "197091070" "dup" "0" "02325" "ASPM_000230" "g.197091070dup" "" "" "" "ASPM(NM_018136.5):c.3845dupT (p.T1284Nfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687976" "0" "30" "1" "197112608" "197112608" "subst" "0" "01943" "ASPM_000231" "g.197112608T>G" "" "" "" "ASPM(NM_018136.4):c.774A>C (p.L258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701842" "3" "50" "1" "197087007" "197087007" "subst" "4.07113E-6" "00006" "ASPM_000232" "g.197087007C>T" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.197117877C>T" "" "VUS" "" "0000717056" "0" "70" "1" "197070283" "197070283" "subst" "0" "02327" "ASPM_000233" "g.197070283G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717057" "0" "30" "1" "197071884" "197071884" "subst" "0" "01943" "ASPM_000234" "g.197071884A>C" "" "" "" "ASPM(NM_018136.4):c.6497T>G (p.I2166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717058" "0" "90" "1" "197074186" "197074186" "dup" "0" "02329" "ASPM_000216" "g.197074186dup" "" "" "" "ASPM(NM_018136.5):c.4195dupA (p.T1399Nfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717059" "0" "30" "1" "197074315" "197074315" "subst" "0" "01943" "ASPM_000235" "g.197074315C>T" "" "" "" "ASPM(NM_018136.4):c.4066G>A (p.G1356R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786751" "3" "70" "1" "197115291" "197115291" "del" "0" "00006" "ASPM_000238" "g.197115291del" "" "{PMID:Ganapathy 2019:31069529}" "" "277delC" "" "Germline" "" "" "0" "" "" "g.197146161del" "" "likely pathogenic" "" "0000786752" "0" "90" "1" "197112486" "197112486" "del" "0" "00006" "ASPM_000237" "g.197112486del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.197143356del" "" "pathogenic" "" "0000786753" "3" "90" "1" "197071253" "197071256" "dup" "0" "00006" "ASPM_000236" "g.197071253_197071256dup" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.197102123_197102126dup" "{CV-RCV:000145177.4}" "pathogenic" "" "0000787447" "0" "90" "1" "197111654" "197111655" "del" "0" "00000" "ASPM_000038" "g.197111654_197111655del" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.197142524_197142525del" "" "pathogenic" "" "0000798180" "1" "57" "1" "197070442" "197070442" "subst" "0.33557" "00002" "ASPM_000001" "g.197070442G>T" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs3762271" "0" "" "" "g.197101312G>T" "" "VUS" "" "0000798982" "0" "50" "1" "197055928" "197055928" "subst" "8.56213E-5" "01943" "ASPM_000239" "g.197055928C>T" "" "" "" "ASPM(NM_018136.4):c.10331+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798983" "0" "30" "1" "197059158" "197059158" "subst" "0" "01943" "ASPM_000240" "g.197059158T>C" "" "" "" "ASPM(NM_018136.4):c.9886A>G (p.I3296V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798984" "0" "30" "1" "197069805" "197069805" "subst" "0" "01943" "ASPM_000241" "g.197069805T>C" "" "" "" "ASPM(NM_018136.4):c.8576A>G (p.Q2859R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798985" "0" "90" "1" "197070407" "197070407" "subst" "0" "01943" "ASPM_000242" "g.197070407G>C" "" "" "" "ASPM(NM_018136.4):c.7974C>G (p.Y2658*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798986" "0" "30" "1" "197087024" "197087024" "subst" "0.000166938" "01943" "ASPM_000243" "g.197087024G>A" "" "" "" "ASPM(NM_018136.4):c.3960C>T (p.L1320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798987" "0" "50" "1" "197113087" "197113087" "subst" "0" "01943" "ASPM_000244" "g.197113087C>A" "" "" "" "ASPM(NM_018136.4):c.441G>T (p.K147N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817852" "3" "90" "1" "197070329" "197070330" "dup" "0" "00006" "ASPM_000245" "g.197070329_197070330dup" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.197101199_197101200dup" "" "pathogenic (recessive)" "ACMG" "0000817869" "3" "90" "1" "197070283" "197070283" "subst" "0" "00006" "ASPM_000233" "g.197070283G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.197101153G>A" "" "pathogenic (recessive)" "ACMG" "0000817873" "3" "90" "1" "197091611" "197091612" "del" "0" "00006" "ASPM_000246" "g.197091611_197091612del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.197122481_197122482del" "" "pathogenic (recessive)" "ACMG" "0000817906" "3" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "ACMG" "0000836601" "3" "90" "1" "197071533" "197071534" "del" "0" "00006" "ASPM_000247" "g.197071533_197071534del" "" "{PMID:Naqvi 2022:35089071}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197102403_197102404del" "" "pathogenic (recessive)" "" "0000846491" "3" "70" "1" "197063209" "197063209" "subst" "0" "00000" "ASPM_000248" "g.197063209C>A" "" "{PMID:Alabdullatif 2017:27717089}" "" "ASPM c.9084+5G>T," "homozygous" "Germline" "yes" "" "0" "" "" "g.197094079C>A" "" "likely pathogenic" "" "0000848451" "0" "10" "1" "197053576" "197053576" "del" "0" "02325" "ASPM_000039" "g.197053576del" "" "" "" "ASPM(NM_018136.5):c.10332-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848452" "0" "10" "1" "197053576" "197053576" "dup" "0" "02325" "ASPM_000184" "g.197053576dup" "" "" "" "ASPM(NM_001206846.1):c.5577-6dup (p.(=)), ASPM(NM_018136.4):c.10332-6dupT, ASPM(NM_018136.5):c.10332-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848453" "0" "50" "1" "197102672" "197102672" "subst" "0" "01943" "ASPM_000249" "g.197102672G>T" "" "" "" "ASPM(NM_018136.4):c.2227C>A (p.P743T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857198" "0" "90" "1" "197062286" "197062286" "subst" "2.85915E-5" "02326" "ASPM_000166" "g.197062286G>A" "" "" "" "ASPM(NM_018136.4):c.9190C>T (p.R3064*), ASPM(NM_018136.5):c.9190C>T (p.R3064*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857199" "0" "30" "1" "197102632" "197102632" "subst" "0.0014218" "01943" "ASPM_000139" "g.197102632T>C" "" "" "" "ASPM(NM_018136.4):c.2267A>G (p.Y756C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883017" "0" "90" "1" "197070094" "197070095" "del" "0" "02327" "ASPM_000250" "g.197070094_197070095del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883018" "0" "90" "1" "197070597" "197070600" "del" "0" "02327" "ASPM_000005" "g.197070597_197070600del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883019" "0" "90" "1" "197072045" "197072046" "del" "0" "02327" "ASPM_000251" "g.197072045_197072046del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000909970" "1" "90" "1" "197115494" "197115494" "del" "0" "00006" "ASPM_000252" "g.197115494del" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "77delG" "" "Germline" "" "" "0" "" "" "g.197146364del" "" "likely pathogenic (recessive)" "" "0000910887" "0" "50" "1" "197069602" "197069602" "subst" "3.07168E-5" "02325" "ASPM_000253" "g.197069602G>A" "" "" "" "ASPM(NM_018136.5):c.8779C>T (p.R2927W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910888" "0" "50" "1" "197074233" "197074233" "subst" "3.27273E-5" "02325" "ASPM_000254" "g.197074233A>G" "" "" "" "ASPM(NM_018136.5):c.4148T>C (p.M1383T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920665" "1" "90" "1" "197102510" "197102510" "subst" "1.22011E-5" "00006" "ASPM_000002" "g.197102510G>A" "" "{PMID:Passemard 2009:19770472}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197133380G>A" "" "pathogenic (recessive)" "" "0000920666" "3" "90" "1" "197059203" "197059203" "subst" "0" "00006" "ASPM_000256" "g.197059203T>A" "" "{PMID:Desir 2006:17029297}, {PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197090073T>A" "" "pathogenic (recessive)" "" "0000920667" "1" "90" "1" "197108991" "197108991" "del" "0" "00006" "ASPM_000015" "g.197108991del" "" "{PMID:Letard 2018:29243349}, {PMID:Duerinckx 2021:34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197139861del" "" "pathogenic (recessive)" "" "0000920668" "3" "90" "1" "197112016" "197112016" "subst" "0" "00006" "ASPM_000412" "g.197112016C>A" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197142886C>A" "" "pathogenic (recessive)" "" "0000920669" "3" "90" "1" "197071870" "197071870" "dup" "0" "00006" "ASPM_000022" "g.197071870dup" "" "{PMID:Letard 2018:29243349}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197102740dup" "" "pathogenic (recessive)" "" "0000920670" "3" "90" "1" "197069679" "197069681" "delins" "0" "00006" "ASPM_000030" "g.197069679_197069681delinsGG" "" "{PMID:Letard 2018:29243349}, {PMID:Duerinckx 2021:34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197100549_197100551delinsGG" "" "pathogenic (recessive)" "" "0000920671" "3" "90" "1" "197111751" "197111755" "del" "0" "00006" "ASPM_000176" "g.197111751_197111755del" "" "{PMID:Desir 2006:17029297}, {PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197142621_197142625del" "" "pathogenic (recessive)" "" "0000920672" "3" "90" "1" "197074186" "197074186" "dup" "0" "00006" "ASPM_000216" "g.197074186dup" "" "{PMID:Desir 2008:18452193}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "" "4195_4196insA" "" "Germline" "" "" "0" "" "" "g.197105056dup" "" "pathogenic (recessive)" "" "0000920673" "1" "90" "1" "197074132" "197074133" "del" "0" "00006" "ASPM_000014" "g.197074132_197074133del" "" "{PMID:Letard 2018:29243349}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197105002_197105003del" "" "pathogenic (recessive)" "" "0000920674" "3" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000920701" "2" "90" "1" "197071700" "197071703" "del" "0" "00006" "ASPM_000255" "g.197071700_197071703del" "" "{PMID:Passemard 2009:19770472}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021: 34402213}" "" "6686_6689delGAAA" "" "Germline" "" "" "0" "" "" "g.197102570_197102573del" "" "pathogenic (recessive)" "" "0000920702" "2" "90" "1" "197070248" "197070251" "del" "0" "00006" "ASPM_000179" "g.197070248_197070251del" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197101118_197101121del" "" "pathogenic (recessive)" "" "0000920703" "2" "90" "1" "197072792" "197072793" "del" "0" "00006" "ASPM_000019" "g.197072792_197072793del" "" "{PMID:Letard 2018:29243349}, {PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.197103662_197103663del" "" "pathogenic (recessive)" "" "0000920728" "21" "70" "1" "197063224" "197063230" "del" "0" "02285" "ASPM_000257" "g.197063224_197063230del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197094094_197094100del" "" "likely pathogenic (recessive)" "" "0000920862" "3" "90" "1" "197099043" "197099043" "del" "0" "00006" "ASPM_000258" "g.197099043del" "" "{PMID:Akbariazar 2013:24665293}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197129913del" "" "pathogenic (recessive)" "" "0000920863" "3" "90" "1" "197094191" "197094191" "subst" "0" "00006" "ASPM_000259" "g.197094191A>C" "" "{PMID:Al-Gazali 2010:20437613}" "" "" "" "Germline" "" "" "0" "" "" "g.197125061A>C" "" "pathogenic (recessive)" "" "0000920864" "3" "90" "1" "197059404" "197059404" "del" "0" "00006" "ASPM_000260" "g.197059404del" "" "{PMID:Al-Gazali 2010:20437613}" "" "9751delA" "" "Germline" "" "" "0" "" "" "g.197090274del" "" "pathogenic (recessive)" "" "0000920866" "3" "90" "1" "197073532" "197073532" "subst" "2.0427E-5" "00006" "ASPM_000261" "g.197073532G>A" "" "{PMID:Papari 2013:22989186}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197104402G>A" "" "pathogenic (recessive)" "" "0000920867" "3" "90" "1" "197057534" "197057534" "del" "0" "00006" "ASPM_000262" "g.197057534del" "" "{PMID:Khan 2017:28674240}" "" "10013delA" "" "Germline" "" "" "0" "" "" "g.197088404del" "" "pathogenic (recessive)" "" "0000920868" "3" "90" "1" "197059425" "197059425" "subst" "4.07551E-6" "00006" "ASPM_000263" "g.197059425G>A" "" "{PMID:Khan 2017:28674240}" "" "" "" "Germline" "yes" "rs199422195" "0" "" "" "g.197090295G>A" "" "pathogenic (recessive)" "" "0000920869" "3" "90" "1" "197072192" "197072192" "subst" "0" "00006" "ASPM_000264" "g.197072192A>C" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197103062A>C" "" "pathogenic (recessive)" "" "0000920870" "3" "10" "1" "197070901" "197070901" "subst" "0.996275" "00006" "ASPM_000082" "g.197070901A>G" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920871" "3" "10" "1" "197070697" "197070697" "subst" "0.336384" "00006" "ASPM_000074" "g.197070697T>C" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920872" "3" "10" "1" "197070442" "197070442" "subst" "0.33557" "00006" "ASPM_000001" "g.197070442G>T" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920873" "3" "10" "1" "197061086" "197061086" "subst" "0.0344603" "00006" "ASPM_000052" "g.197061086A>C" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920874" "3" "10" "1" "197112533" "197112533" "subst" "0.88101" "00006" "ASPM_000152" "g.197112533G>A" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920875" "3" "10" "1" "197091537" "197091537" "subst" "0.888047" "00006" "ASPM_000122" "g.197091537A>T" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920876" "3" "10" "1" "197073932" "197073932" "subst" "0.343539" "00006" "ASPM_000110" "g.197073932T>C" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920877" "3" "10" "1" "197072420" "197072420" "subst" "0.336562" "00006" "ASPM_000171" "g.197072420T>C" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920878" "3" "10" "1" "197070815" "197070815" "subst" "0.895741" "00006" "ASPM_000170" "g.197070815T>C" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920879" "3" "10" "1" "197070707" "197070707" "subst" "0.336114" "00006" "ASPM_000075" "g.197070707G>A" "" "{PMID:Shen 2005:16141009}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920880" "3" "90" "1" "197091174" "197091174" "subst" "0" "00006" "ASPM_000265" "g.197091174C>G" "" "{PMID:Hashmi 2016:27920410}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197122044C>G" "" "pathogenic (recessive)" "" "0000920882" "11" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Saadi 2009:19332161}" "" "7781_7782delAG (Gln2594fsX6)" "" "Germline" "yes" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000920883" "21" "90" "1" "197102510" "197102510" "subst" "1.22011E-5" "00006" "ASPM_000002" "g.197102510G>A" "" "{PMID:Saadi 2009:19332161}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197133380G>A" "" "pathogenic (recessive)" "" "0000920884" "21" "90" "1" "197094203" "197094203" "subst" "0" "00006" "ASPM_000266" "g.197094203G>A" "" "{PMID:Nakamura 2015:25765464}" "" "" "" "Germline" "" "" "0" "" "" "g.197125073G>A" "" "pathogenic (recessive)" "" "0000920885" "11" "90" "1" "197071635" "197071635" "del" "0" "00006" "ASPM_000267" "g.197071635del" "" "{PMID:Nakamura 2015:25765464}" "" "6750delT" "" "Germline" "" "" "0" "" "" "g.197102505del" "" "pathogenic (recessive)" "" "0000920886" "1" "90" "1" "197070154" "197070154" "subst" "8.19598E-6" "00006" "ASPM_000268" "g.197070154G>A" "" "{PMID:Hu 2014:24691052}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197101024G>A" "" "pathogenic (recessive)" "" "0000920887" "2" "90" "1" "197070607" "197070610" "del" "0" "00006" "ASPM_000269" "g.197070607_197070610del" "" "{PMID:Hu 2014:24691052}" "" "7772_7775delAAAA" "" "Germline" "yes" "" "0" "" "" "g.197101477_197101480del" "" "pathogenic (recessive)" "" "0000920888" "10" "90" "1" "197091119" "197091119" "subst" "8.16247E-6" "00006" "ASPM_000270" "g.197091119C>A" "" "{PMID:Ariani 2013:22823409}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197121989C>A" "" "pathogenic (recessive)" "" "0000920889" "21" "90" "1" "197070568" "197070569" "del" "0" "00006" "ASPM_000271" "g.197070568_197070569del" "" "{PMID:Ariani 2013:22823409}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197101438_197101439del" "" "pathogenic (recessive)" "" "0000920890" "3" "90" "1" "197112666" "197112667" "del" "0" "00006" "ASPM_000272" "g.197112666_197112667del" "" "{PMID:Bond 2002:12355089}" "" "719-720delCT" "" "Germline" "" "" "0" "" "" "g.197143536_197143537del" "" "pathogenic (recessive)" "" "0000920891" "3" "90" "1" "197112118" "197112124" "del" "0" "00006" "ASPM_000273" "g.197112118_197112124del" "" "{PMID:Bond 2002:12355089}" "" "1258-1264delTCTCAAG" "" "Germline" "" "" "0" "" "" "g.197142988_197142994del" "" "pathogenic (recessive)" "" "0000920892" "3" "90" "1" "197070620" "197070620" "subst" "0" "00006" "ASPM_000274" "g.197070620A>C" "" "{PMID:Bond 2002:12355089}" "" "" "" "Germline" "" "" "0" "" "" "g.197101490A>C" "" "pathogenic (recessive)" "" "0000920893" "3" "90" "1" "197062319" "197062319" "del" "0" "00006" "ASPM_000275" "g.197062319del" "" "{PMID:Bond 2002:12355089}" "" "9159delA" "" "Germline" "" "" "0" "" "" "g.197093189del" "" "pathogenic (recessive)" "" "0000920894" "3" "90" "1" "197113179" "197113179" "subst" "2.03214E-5" "00006" "ASPM_000278" "g.197113179G>A" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197144049G>A" "" "pathogenic (recessive)" "" "0000920895" "3" "90" "1" "197112118" "197112124" "del" "0" "00006" "ASPM_000273" "g.197112118_197112124del" "" "{PMID:Bond 2003:14574646}" "" "1258delTCTCAAG" "" "Germline" "" "" "0" "" "" "g.197142988_197142994del" "" "pathogenic (recessive)" "" "0000920896" "3" "90" "1" "197062286" "197062286" "subst" "2.85915E-5" "00006" "ASPM_000166" "g.197062286G>A" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197093156G>A" "" "pathogenic (recessive)" "" "0000920897" "3" "90" "1" "197097615" "197097615" "subst" "0" "00006" "ASPM_000390" "g.197097615C>A" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197128485C>A" "" "pathogenic (recessive)" "" "0000920898" "3" "90" "1" "197108933" "197108933" "subst" "0" "00006" "ASPM_000403" "g.197108933G>A" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197139803G>A" "" "pathogenic (recessive)" "" "0000920899" "3" "90" "1" "197069873" "197069874" "del" "0" "00006" "ASPM_000311" "g.197069873_197069874del" "" "{PMID:Bond 2003:14574646}" "" "8508delGA" "" "Germline" "" "" "0" "" "" "g.197100743_197100744del" "" "pathogenic (recessive)" "" "0000920900" "3" "90" "1" "197094176" "197094176" "subst" "0" "00006" "ASPM_000384" "g.197094176C>T" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197125046C>T" "" "pathogenic (recessive)" "" "0000920901" "3" "90" "1" "197073800" "197073800" "del" "0" "00006" "ASPM_000358" "g.197073800del" "" "{PMID:Bond 2003:14574646}" "" "4581delA" "" "Germline" "" "" "0" "" "" "g.197104670del" "" "pathogenic (recessive)" "" "0000920902" "3" "90" "1" "197073586" "197073586" "subst" "4.09008E-6" "00006" "ASPM_000355" "g.197073586G>A" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197104456G>A" "" "pathogenic (recessive)" "" "0000920903" "3" "90" "1" "197062319" "197062319" "del" "0" "00006" "ASPM_000275" "g.197062319del" "" "{PMID:Bond 2003:14574646}" "" "9159delA" "" "Germline" "" "" "0" "" "" "g.197093189del" "" "pathogenic (recessive)" "" "0000920904" "3" "90" "1" "197070485" "197070486" "del" "0" "00006" "ASPM_000319" "g.197070485_197070486del" "" "{PMID:Bond 2003:14574646}" "" "(7895C>T)" "" "Germline" "" "" "0" "" "" "g.197101355_197101356del" "" "pathogenic (recessive)" "" "0000920905" "3" "90" "1" "197060059" "197060059" "subst" "4.07644E-6" "00006" "ASPM_000295" "g.197060059G>C" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197090929G>C" "" "pathogenic (recessive)" "" "0000920906" "3" "90" "1" "197059059" "197059059" "subst" "0" "00006" "ASPM_000285" "g.197059059C>A" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197089929C>A" "" "pathogenic (recessive)" "" "0000920907" "3" "90" "1" "197091368" "197091368" "del" "0" "00006" "ASPM_000373" "g.197091368del" "" "{PMID:Bond 2003:14574646}" "" "3663delG" "" "Germline" "" "" "0" "" "" "g.197122238del" "" "pathogenic (recessive)" "" "0000920908" "3" "90" "1" "197091104" "197091104" "subst" "1.22305E-5" "00006" "ASPM_000117" "g.197091104G>A" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197121974G>A" "" "pathogenic (recessive)" "" "0000920909" "3" "90" "1" "197091589" "197091589" "subst" "0" "00006" "ASPM_000374" "g.197091589G>C" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197122459G>C" "" "pathogenic (recessive)" "" "0000920910" "3" "90" "1" "197108968" "197108971" "del" "0" "00006" "ASPM_000404" "g.197108968_197108971del" "" "{PMID:Bond 2003:14574646}" "" "1959delCAAA" "" "Germline" "" "" "0" "" "" "g.197139838_197139841del" "" "pathogenic (recessive)" "" "0000920911" "3" "90" "1" "197111654" "197111655" "del" "0" "00006" "ASPM_000038" "g.197111654_197111655del" "" "{PMID:Bond 2003:14574646}" "" "1727delAG" "" "Germline" "" "" "0" "" "" "g.197142524_197142525del" "" "pathogenic (recessive)" "" "0000920912" "3" "90" "1" "197059404" "197059404" "del" "0" "00006" "ASPM_000260" "g.197059404del" "" "{PMID:Bond 2003:14574646}" "" "9754delA" "" "Germline" "" "" "0" "" "" "g.197090274del" "" "pathogenic (recessive)" "" "0000920913" "0" "10" "1" "197094030" "197094030" "subst" "0.280197" "00006" "ASPM_000129" "g.197094030C>T" "3/12 cases MCPH" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197124900C>T" "" "benign" "" "0000920914" "0" "10" "1" "197091316" "197091316" "subst" "0" "00006" "ASPM_000370" "g.197091316A>G" "1/12 cases MCPH" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197122186A>G" "" "benign" "" "0000920915" "0" "10" "1" "197074037" "197074037" "subst" "0" "00006" "ASPM_000362" "g.197074037T>C" "3/12 cases MCPH" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197104907T>C" "" "benign" "" "0000920916" "0" "10" "1" "197073932" "197073932" "subst" "0.343539" "00006" "ASPM_000110" "g.197073932T>C" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197104802T>C" "" "benign" "" "0000920917" "0" "10" "1" "197072525" "197072525" "subst" "0" "00006" "ASPM_000342" "g.197072525C>T" "" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197103395C>T" "" "benign" "" "0000920918" "0" "10" "1" "197072420" "197072420" "subst" "0.336562" "00006" "ASPM_000171" "g.197072420T>C" "2/12 cases MCPH" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197103290T>C" "" "benign" "" "0000920919" "0" "10" "1" "197070776" "197070776" "subst" "0.256219" "00006" "ASPM_000078" "g.197070776C>T" "4/12 cases MCPH" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197101646C>T" "" "benign" "" "0000920920" "0" "10" "1" "197070707" "197070707" "subst" "0.336114" "00006" "ASPM_000075" "g.197070707G>A" "3/12 cases MCPH" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197101577G>A" "" "benign" "" "0000920921" "0" "10" "1" "197070697" "197070697" "subst" "0.336384" "00006" "ASPM_000074" "g.197070697T>C" "4/12 cases MCPH" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197101567T>C" "" "benign" "" "0000920922" "0" "10" "1" "197070442" "197070442" "subst" "0.33557" "00006" "ASPM_000001" "g.197070442G>T" "8/12 cases MCPH" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197101312G>T" "" "benign" "" "0000920923" "0" "10" "1" "197061086" "197061086" "subst" "0.0344603" "00006" "ASPM_000052" "g.197061086A>C" "3/12 cases MCPH" "{PMID:Bond 2003:14574646}" "" "" "" "Germline" "" "" "0" "" "" "g.197091956A>C" "" "benign" "" "0000920924" "3" "90" "1" "197062298" "197062298" "subst" "1.22517E-5" "00006" "ASPM_000276" "g.197062298G>A" "" "{PMID:Kumar 2004:15355437}" "" "" "" "Germline" "" "" "0" "" "" "g.197093168G>A" "" "pathogenic (recessive)" "" "0000920925" "3" "90" "1" "197062298" "197062298" "subst" "1.22517E-5" "00006" "ASPM_000276" "g.197062298G>A" "" "{PMID:Kumar 2004:15355437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197093168G>A" "" "pathogenic (recessive)" "" "0000920926" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kumar 2004:15355437}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000920927" "3" "90" "1" "197113179" "197113179" "subst" "2.03214E-5" "00006" "ASPM_000278" "g.197113179G>A" "" "{PMID:Kumar 2004:15355437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197144049G>A" "" "pathogenic (recessive)" "" "0000920928" "3" "90" "1" "197113179" "197113179" "subst" "2.03214E-5" "00006" "ASPM_000278" "g.197113179G>A" "" "{PMID:Kumar 2004:15355437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197144049G>A" "" "pathogenic (recessive)" "" "0000920962" "3" "90" "1" "197112118" "197112124" "del" "0" "00006" "ASPM_000273" "g.197112118_197112124del" "" "{PMID:Gul 2006:16673149}" "" "1260delTCAAGTC" "" "Germline" "" "" "0" "" "" "g.197142988_197142994del" "" "pathogenic (recessive)" "" "0000920963" "3" "90" "1" "197062358" "197062361" "dup" "0" "00006" "ASPM_000303" "g.197062358_197062361dup" "" "{PMID:Gul 2006:16673149}" "" "9118+catt" "" "Germline" "" "" "0" "" "" "g.197093228_197093231dup" "" "pathogenic (recessive)" "" "0000920964" "3" "90" "1" "197062238" "197062238" "subst" "0" "00006" "ASPM_000279" "g.197062238T>A" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197093108T>A" "" "pathogenic (recessive)" "" "0000920965" "3" "90" "1" "197060059" "197060059" "subst" "4.07644E-6" "00006" "ASPM_000295" "g.197060059G>C" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197090929G>C" "" "pathogenic (recessive)" "" "0000920966" "3" "90" "1" "197060077" "197060077" "subst" "0.00478291" "00006" "ASPM_000050" "g.197060077T>G" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197090947T>G" "" "pathogenic (recessive)" "" "0000920967" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000920968" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000920969" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000920970" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000920971" "3" "10" "1" "197070901" "197070901" "subst" "0.996275" "00006" "ASPM_000082" "g.197070901A>G" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197101771A>G" "" "benign" "" "0000920972" "3" "10" "1" "197070805" "197070805" "subst" "0" "00006" "ASPM_000327" "g.197070805T>C" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197101675T>C" "" "benign" "" "0000920973" "3" "10" "1" "197070442" "197070442" "subst" "0.33557" "00006" "ASPM_000001" "g.197070442G>T" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197101312G>T" "" "benign" "" "0000920974" "3" "10" "1" "197112533" "197112533" "subst" "0.88101" "00006" "ASPM_000152" "g.197112533G>A" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197143403G>A" "" "benign" "" "0000920975" "3" "10" "1" "197091537" "197091537" "subst" "0.888047" "00006" "ASPM_000122" "g.197091537A>T" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197122407A>T" "" "benign" "" "0000920976" "3" "10" "1" "197073932" "197073932" "subst" "0.343539" "00006" "ASPM_000110" "g.197073932T>C" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197104802T>C" "" "benign" "" "0000920977" "3" "10" "1" "197072420" "197072420" "subst" "0.336562" "00006" "ASPM_000171" "g.197072420T>C" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197103290T>C" "" "benign" "" "0000920978" "3" "10" "1" "197112776" "197112776" "subst" "0" "00006" "ASPM_000424" "g.197112776T>C" "" "{PMID:Gul 2006:16673149}" "" "605G>A" "" "Germline" "" "" "0" "" "" "g.197143646T>C" "" "benign" "" "0000920979" "3" "10" "1" "197070442" "197070442" "subst" "0.33557" "00006" "ASPM_000001" "g.197070442G>T" "" "{PMID:Gul 2006:16673149}" "" "" "" "Germline" "" "" "0" "" "" "g.197101312G>T" "" "benign" "" "0000920980" "3" "10" "1" "197070776" "197070776" "subst" "0.256219" "00006" "ASPM_000078" "g.197070776C>T" "" "{PMID:Kumar 2004:15355437}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920981" "3" "10" "1" "197073932" "197073932" "subst" "0.343539" "00006" "ASPM_000110" "g.197073932T>C" "" "{PMID:Kumar 2004:15355437}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920982" "3" "10" "1" "197070776" "197070776" "subst" "0.256219" "00006" "ASPM_000078" "g.197070776C>T" "" "{PMID:Kumar 2004:15355437}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920983" "3" "10" "1" "197072420" "197072420" "subst" "0.336562" "00006" "ASPM_000171" "g.197072420T>C" "" "{PMID:Kumar 2004:15355437}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000920984" "3" "90" "1" "197073238" "197073238" "del" "0" "00006" "ASPM_000352" "g.197073238del" "" "{PMID:Gul 2007:17849285}" "" "5149delA" "" "Germline" "" "" "0" "" "" "g.197104108del" "" "pathogenic (recessive)" "" "0000920985" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Gul 2007:17849285}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000920986" "3" "90" "1" "197073245" "197073245" "subst" "4.08307E-6" "00006" "ASPM_000353" "g.197073245G>T" "" "{PMID:Gul 2007:17849285}" "" "" "" "Germline" "" "" "0" "" "" "g.197104115G>T" "" "pathogenic (recessive)" "" "0000920987" "3" "90" "1" "197069873" "197069874" "del" "0" "00006" "ASPM_000311" "g.197069873_197069874del" "" "{PMID:Gul 2007:17849285}" "" "8508delGA" "" "Germline" "" "" "0" "" "" "g.197100743_197100744del" "" "pathogenic (recessive)" "" "0000920988" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Gul 2007:17849285}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000920989" "3" "90" "1" "197057488" "197057488" "subst" "0" "00006" "ASPM_000284" "g.197057488G>T" "" "{PMID:Gul 2007:17849285}" "" "" "" "Germline" "" "" "0" "" "" "g.197088358G>T" "" "pathogenic (recessive)" "" "0000920990" "3" "90" "1" "197059425" "197059425" "subst" "4.07551E-6" "00006" "ASPM_000263" "g.197059425G>A" "" "{PMID:Gul 2007:17849285}" "" "" "" "Germline" "" "" "0" "" "" "g.197090295G>A" "" "pathogenic (recessive)" "" "0000920991" "0" "90" "1" "197115494" "197115494" "del" "0" "00006" "ASPM_000252" "g.197115494del" "" "{PMID:Nicholas 2008:19028728}" "" "74delG" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197146364del" "" "pathogenic (recessive)" "" "0000920992" "0" "90" "1" "197091967" "197113811" "del" "0" "00006" "ASPM_000377" "g.197091967_197113811del" "" "{PMID:Nicholas 2008:19028728}" "" "297+1460_3391-242del21844" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197122837_197144681del" "" "pathogenic (recessive)" "" "0000920993" "0" "90" "1" "197113092" "197113092" "del" "0" "00006" "ASPM_000427" "g.197113092del" "" "{PMID:Nicholas 2008:19028728}" "" "440delA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197143962del" "" "pathogenic (recessive)" "" "0000920994" "0" "90" "1" "197112805" "197112805" "subst" "0" "00006" "ASPM_000426" "g.197112805G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197143675G>A" "" "pathogenic (recessive)" "" "0000920995" "1" "90" "1" "197112229" "197112230" "del" "0" "00006" "ASPM_000416" "g.197112229_197112230del" "" "{PMID:Nicholas 2008:19028728}" "" "1152_53delAG" "" "Germline" "" "" "0" "" "" "g.197143099_197143100del" "" "pathogenic (recessive)" "" "0000920996" "0" "90" "1" "197112203" "197112203" "del" "0" "00006" "ASPM_000415" "g.197112203del" "" "{PMID:Nicholas 2008:19028728}" "" "1179delT" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197143073del" "" "pathogenic (recessive)" "" "0000920997" "0" "90" "1" "197112016" "197112016" "subst" "0" "00006" "ASPM_000412" "g.197112016C>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197142886C>A" "" "pathogenic (recessive)" "" "0000920998" "0" "90" "1" "197111970" "197111977" "del" "0" "00006" "ASPM_000410" "g.197111970_197111977del" "" "{PMID:Nicholas 2008:19028728}" "" "1406_1413delATCCTAAA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197142840_197142847del" "" "pathogenic (recessive)" "" "0000920999" "0" "90" "1" "197111796" "197111796" "del" "0" "00006" "ASPM_000408" "g.197111796del" "" "{PMID:Nicholas 2008:19028728}" "" "1590delA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197142666del" "" "pathogenic (recessive)" "" "0000921000" "0" "90" "1" "197108968" "197108971" "del" "0" "00006" "ASPM_000404" "g.197108968_197108971del" "" "{PMID:Nicholas 2008:19028728}" "" "1959_1961delCAAA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197139838_197139841del" "" "pathogenic (recessive)" "" "0000921001" "0" "90" "1" "197108968" "197108971" "del" "0" "00006" "ASPM_000404" "g.197108968_197108971del" "" "{PMID:Nicholas 2008:19028728}" "" "1959_1961delCAAA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197139838_197139841del" "" "pathogenic (recessive)" "" "0000921002" "0" "90" "1" "197097820" "197097820" "subst" "0" "00006" "ASPM_000395" "g.197097820T>C" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197128690T>C" "" "pathogenic (recessive)" "" "0000921003" "0" "90" "1" "197094291" "197094291" "subst" "0" "00006" "ASPM_000386" "g.197094291C>T" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197125161C>T" "" "pathogenic (recessive)" "" "0000921004" "0" "90" "1" "197094203" "197094203" "subst" "0" "00006" "ASPM_000266" "g.197094203G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197125073G>A" "" "pathogenic (recessive)" "" "0000921005" "0" "90" "1" "197094203" "197094203" "subst" "0" "00006" "ASPM_000266" "g.197094203G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197125073G>A" "" "pathogenic (recessive)" "" "0000921006" "0" "90" "1" "197093442" "197093442" "subst" "0" "00006" "ASPM_000382" "g.197093442A>C" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197124312A>C" "" "pathogenic (recessive)" "" "0000921007" "0" "90" "1" "197091288" "197091288" "subst" "4.09604E-6" "00006" "ASPM_000369" "g.197091288C>T" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197122158C>T" "" "pathogenic (recessive)" "" "0000921008" "0" "90" "1" "197091119" "197091119" "subst" "8.16247E-6" "00006" "ASPM_000270" "g.197091119C>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197121989C>A" "" "pathogenic (recessive)" "" "0000921009" "3" "90" "1" "197091104" "197091104" "subst" "1.22305E-5" "00006" "ASPM_000117" "g.197091104G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "" "Germline" "" "" "0" "" "" "g.197121974G>A" "" "pathogenic (recessive)" "" "0000921010" "3" "90" "1" "197091104" "197091104" "subst" "1.22305E-5" "00006" "ASPM_000117" "g.197091104G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "" "Germline" "" "" "0" "" "" "g.197121974G>A" "" "pathogenic (recessive)" "" "0000921011" "3" "90" "1" "197091104" "197091104" "subst" "1.22305E-5" "00006" "ASPM_000117" "g.197091104G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "" "Germline" "" "" "0" "" "" "g.197121974G>A" "" "pathogenic (recessive)" "" "0000921012" "3" "90" "1" "197091104" "197091104" "subst" "1.22305E-5" "00006" "ASPM_000117" "g.197091104G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "" "Germline" "" "" "0" "" "" "g.197121974G>A" "" "pathogenic (recessive)" "" "0000921013" "0" "90" "1" "197073525" "197073526" "del" "0" "00006" "ASPM_000354" "g.197073525_197073526del" "" "{PMID:Nicholas 2008:19028728}" "" "4855_4856delTA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197104395_197104396del" "" "pathogenic (recessive)" "" "0000921014" "0" "90" "1" "197072045" "197072046" "del" "0" "00006" "ASPM_000251" "g.197072045_197072046del" "" "{PMID:Nicholas 2008:19028728}" "" "6335_6336delAT" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197102915_197102916del" "" "pathogenic (recessive)" "" "0000921015" "0" "90" "1" "197070888" "197070892" "del" "0" "00006" "ASPM_000329" "g.197070888_197070892del" "" "{PMID:Nicholas 2008:19028728}" "" "7489_7493delTATAT" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197101758_197101762del" "" "pathogenic (recessive)" "" "0000921016" "0" "90" "1" "197070620" "197070620" "subst" "0" "00006" "ASPM_000274" "g.197070620A>C" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197101490A>C" "" "pathogenic (recessive)" "" "0000921017" "0" "90" "1" "197070620" "197070620" "subst" "0" "00006" "ASPM_000274" "g.197070620A>C" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197101490A>C" "" "pathogenic (recessive)" "" "0000921018" "0" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Nicholas 2008:19028728}" "" "7782_7783delGA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921019" "0" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Nicholas 2008:19028728}" "" "7782_7783delGA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921020" "0" "90" "1" "197070521" "197070522" "del" "0" "00006" "ASPM_000321" "g.197070521_197070522del" "" "{PMID:Nicholas 2008:19028728}" "" "7859_7860delAG" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197101391_197101392del" "" "pathogenic (recessive)" "" "0000921021" "0" "90" "1" "197070250" "197070251" "del" "0" "00006" "ASPM_000318" "g.197070250_197070251del" "" "{PMID:Nicholas 2008:19028728}" "" "8130_8131delAA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197101120_197101121del" "" "pathogenic (recessive)" "" "0000921022" "0" "90" "1" "197070003" "197070003" "del" "0" "00006" "ASPM_000312" "g.197070003del" "" "{PMID:Nicholas 2008:19028728}" "" "8378delT" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197100873del" "" "pathogenic (recessive)" "" "0000921023" "0" "90" "1" "197070003" "197070003" "del" "0" "00006" "ASPM_000312" "g.197070003del" "" "{PMID:Nicholas 2008:19028728}" "" "8378delT" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197100873del" "" "pathogenic (recessive)" "" "0000921024" "0" "90" "1" "197069873" "197069874" "del" "0" "00006" "ASPM_000311" "g.197069873_197069874del" "" "{PMID:Nicholas 2008:19028728}" "" "8508_8509delGA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197100743_197100744del" "" "pathogenic (recessive)" "" "0000921025" "0" "90" "1" "197069873" "197069874" "del" "0" "00006" "ASPM_000311" "g.197069873_197069874del" "" "{PMID:Nicholas 2008:19028728}" "" "8508_8509delGA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197100743_197100744del" "" "pathogenic (recessive)" "" "0000921026" "0" "90" "1" "197065272" "197065272" "del" "0" "00006" "ASPM_000308" "g.197065272del" "" "{PMID:Nicholas 2008:19028728}" "" "8844delC" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197096142del" "" "pathogenic (recessive)" "" "0000921027" "0" "90" "1" "197062298" "197062298" "subst" "1.22517E-5" "00006" "ASPM_000276" "g.197062298G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197093168G>A" "" "pathogenic (recessive)" "" "0000921028" "0" "90" "1" "197062298" "197062298" "subst" "1.22517E-5" "00006" "ASPM_000276" "g.197062298G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197093168G>A" "" "pathogenic (recessive)" "" "0000921029" "0" "90" "1" "197062286" "197062286" "subst" "2.85915E-5" "00006" "ASPM_000166" "g.197062286G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197093156G>A" "" "pathogenic (recessive)" "" "0000921030" "0" "90" "1" "197062286" "197062286" "subst" "2.85915E-5" "00006" "ASPM_000166" "g.197062286G>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197093156G>A" "" "pathogenic (recessive)" "" "0000921031" "0" "90" "1" "197062238" "197062238" "subst" "0" "00006" "ASPM_000279" "g.197062238T>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197093108T>A" "" "pathogenic (recessive)" "" "0000921032" "0" "90" "1" "197062238" "197062238" "subst" "0" "00006" "ASPM_000279" "g.197062238T>A" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197093108T>A" "" "pathogenic (recessive)" "" "0000921033" "0" "90" "1" "197059474" "197059474" "del" "0" "00006" "ASPM_000218" "g.197059474del" "" "{PMID:Nicholas 2008:19028728}" "" "9681delA" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197090344del" "" "pathogenic (recessive)" "" "0000921034" "0" "90" "1" "197059409" "197059410" "del" "0" "00006" "ASPM_000289" "g.197059409_197059410del" "" "{PMID:Nicholas 2008:19028728}" "" "9745_9746delCT" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197090279_197090280del" "" "pathogenic (recessive)" "" "0000921035" "0" "90" "1" "197059366" "197059366" "subst" "0" "00006" "ASPM_000288" "g.197059366A>T" "" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197090236A>T" "" "pathogenic (recessive)" "" "0000921036" "0" "50" "1" "197113298" "197113298" "subst" "0" "00006" "ASPM_000429" "g.197113298C>T" "2/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197144168C>T" "" "VUS" "" "0000921037" "0" "50" "1" "197113189" "197113189" "subst" "0" "00006" "ASPM_000428" "g.197113189G>C" "1/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197144059G>C" "" "VUS" "" "0000921038" "0" "50" "1" "197104289" "197104289" "subst" "4.06223E-6" "00006" "ASPM_000401" "g.197104289T>C" "1/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197135159T>C" "" "VUS" "" "0000921039" "0" "50" "1" "197101263" "197101263" "subst" "0" "00006" "ASPM_000397" "g.197101263C>T" "1/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197132133C>T" "" "VUS" "" "0000921040" "0" "50" "1" "197094191" "197094191" "subst" "0" "00006" "ASPM_000259" "g.197094191A>C" "1/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197125061A>C" "" "VUS" "" "0000921041" "0" "50" "1" "197074168" "197074168" "subst" "0.00525863" "00006" "ASPM_000114" "g.197074168G>A" "1/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197105038G>A" "" "VUS" "" "0000921042" "0" "50" "1" "197072458" "197072458" "subst" "0.000122318" "00006" "ASPM_000341" "g.197072458T>C" "1/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197103328T>C" "" "VUS" "" "0000921043" "0" "30" "1" "197072420" "197072420" "subst" "0.336562" "00006" "ASPM_000171" "g.197072420T>C" "22/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197103290T>C" "" "likely benign" "" "0000921044" "0" "30" "1" "197070707" "197070707" "subst" "0.336114" "00006" "ASPM_000075" "g.197070707G>A" "22/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197101577G>A" "" "likely benign" "" "0000921045" "0" "30" "1" "197070697" "197070697" "subst" "0.336384" "00006" "ASPM_000074" "g.197070697T>C" "22/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197101567T>C" "" "likely benign" "" "0000921046" "0" "30" "1" "197063352" "197063352" "subst" "0.332388" "00006" "ASPM_000306" "g.197063352C>T" "21/42 families MCPH" "{PMID:Nicholas 2008:19028728}" "" "" "combination of variants not reported, most likely homozygous" "Germline" "" "" "0" "" "" "g.197094222C>T" "" "likely benign" "" "0000921047" "3" "90" "1" "197091320" "197091320" "subst" "4.07601E-6" "00006" "ASPM_000371" "g.197091320G>C" "" "{PMID:Nicholas 2008:19028728}" "" "" "" "Germline" "" "" "0" "" "" "g.197122190G>C" "" "pathogenic (recessive)" "" "0000921084" "3" "90" "1" "197104298" "197104298" "subst" "0" "00006" "ASPM_000402" "g.197104298G>A" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197135168G>A" "" "pathogenic (recessive)" "" "0000921085" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921086" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921087" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921088" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921089" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921090" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921091" "3" "90" "1" "197060124" "197060124" "subst" "0" "00006" "ASPM_000219" "g.197060124A>C" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197090994A>C" "" "pathogenic (recessive)" "" "0000921092" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921093" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921094" "3" "90" "1" "197071700" "197071703" "del" "0" "00006" "ASPM_000255" "g.197071700_197071703del" "" "{PMID:Kousar 2010:19808985}" "" "6689delGAAA" "" "Germline" "" "" "0" "" "" "g.197102570_197102573del" "" "pathogenic (recessive)" "" "0000921095" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Kousar 2010:19808985}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921096" "3" "90" "1" "197115494" "197115494" "del" "0" "00006" "ASPM_000252" "g.197115494del" "" "{PMID:Kousar 2010:19808985}" "" "77delG" "" "Germline" "" "" "0" "" "" "g.197146364del" "" "pathogenic (recessive)" "" "0000921097" "3" "90" "1" "197062319" "197062319" "del" "0" "00006" "ASPM_000275" "g.197062319del" "" "{PMID:Kousar 2010:19808985}" "" "9159delA" "" "Germline" "" "" "0" "" "" "g.197093189del" "" "pathogenic (recessive)" "" "0000921098" "3" "90" "1" "197112118" "197112124" "del" "0" "00006" "ASPM_000273" "g.197112118_197112124del" "" "{PMID:Kousar 2010:19808985}" "" "1260-1266delTCAAGTC" "" "Germline" "" "" "0" "" "" "g.197142988_197142994del" "" "pathogenic (recessive)" "" "0000921099" "1" "90" "1" "197094203" "197094203" "subst" "0" "00006" "ASPM_000266" "g.197094203G>A" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197125073G>A" "" "pathogenic (recessive)" "" "0000921100" "1" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921101" "3" "90" "1" "197060059" "197060059" "subst" "4.07644E-6" "00006" "ASPM_000295" "g.197060059G>C" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197090929G>C" "" "pathogenic (recessive)" "" "0000921102" "3" "90" "1" "197060124" "197060124" "subst" "0" "00006" "ASPM_000219" "g.197060124A>C" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197090994A>C" "" "pathogenic (recessive)" "" "0000921103" "3" "90" "1" "197069713" "197069713" "subst" "8.17374E-6" "00006" "ASPM_000310" "g.197069713G>A" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197100583G>A" "" "pathogenic (recessive)" "" "0000921104" "3" "90" "1" "197060124" "197060124" "subst" "0" "00006" "ASPM_000219" "g.197060124A>C" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197090994A>C" "" "pathogenic (recessive)" "" "0000921105" "3" "90" "1" "197094203" "197094203" "subst" "0" "00006" "ASPM_000266" "g.197094203G>A" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197125073G>A" "" "pathogenic (recessive)" "" "0000921106" "3" "90" "1" "197112380" "197112380" "del" "0" "00006" "ASPM_000418" "g.197112380del" "" "{PMID:Muhammad 2009:19353628}" "" "1002delA" "" "Germline" "" "" "0" "" "" "g.197143250del" "" "pathogenic (recessive)" "" "0000921107" "3" "90" "1" "197059478" "197059478" "dup" "0" "00006" "ASPM_000291" "g.197059478dup" "" "{PMID:Muhammad 2009:19353628}" "" "9677_9678insG" "" "Germline" "" "" "0" "" "" "g.197090348dup" "" "pathogenic (recessive)" "" "0000921108" "3" "90" "1" "197094320" "197094320" "subst" "4.06359E-6" "00006" "ASPM_000388" "g.197094320G>A" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197125190G>A" "" "pathogenic (recessive)" "" "0000921109" "3" "90" "1" "197091636" "197091640" "del" "0" "00006" "ASPM_000376" "g.197091636_197091640del" "" "{PMID:Muhammad 2009:19353628}" "" "3477_3481delCGCTA" "" "Germline" "" "" "0" "" "" "g.197122506_197122510del" "" "pathogenic (recessive)" "" "0000921110" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921111" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921112" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "00006" "ASPM_000277" "g.197087006C>T" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000921113" "3" "90" "1" "197059425" "197059425" "subst" "4.07551E-6" "00006" "ASPM_000263" "g.197059425G>A" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197090295G>A" "" "pathogenic (recessive)" "" "0000921114" "3" "90" "1" "197060021" "197060021" "subst" "4.07578E-6" "00006" "ASPM_000293" "g.197060021T>A" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197090891T>A" "" "pathogenic (recessive)" "" "0000921115" "3" "90" "1" "197059425" "197059425" "subst" "4.07551E-6" "00006" "ASPM_000263" "g.197059425G>A" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197090295G>A" "" "pathogenic (recessive)" "" "0000921116" "3" "90" "1" "197069873" "197069874" "del" "0" "00006" "ASPM_000311" "g.197069873_197069874del" "" "{PMID:Muhammad 2009:19353628}" "" "8508_8509delGA" "" "Germline" "" "" "0" "" "" "g.197100743_197100744del" "" "pathogenic (recessive)" "" "0000921117" "3" "90" "1" "197070487" "197070487" "subst" "0" "00006" "ASPM_000320" "g.197070487G>A" "" "{PMID:Muhammad 2009:19353628}" "" "" "" "Germline" "" "" "0" "" "" "g.197101357G>A" "" "pathogenic (recessive)" "" "0000921118" "3" "90" "1" "197071649" "197071649" "del" "0" "00006" "ASPM_000336" "g.197071649del" "" "{PMID:Muhammad 2009:19353628}" "" "6732delA" "" "Germline" "" "" "0" "" "" "g.197102519del" "" "pathogenic 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"" "Germline" "" "" "0" "" "" "g.197101234G>A" "" "pathogenic (recessive)" "" "0000921202" "1" "90" "1" "197091062" "197091063" "del" "0" "00006" "ASPM_000368" "g.197091062_197091063del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197121932_197121933del" "" "pathogenic (recessive)" "" "0000921203" "1" "90" "1" "197073185" "197073185" "subst" "0" "00006" "ASPM_000350" "g.197073185A>T" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197104055A>T" "" "pathogenic (recessive)" "" "0000921204" "3" "90" "1" "197070769" "197070769" "subst" "0" "00006" "ASPM_000326" "g.197070769G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101639G>A" "" "pathogenic (recessive)" "" "0000921205" "3" "90" "1" "197108968" "197108971" "del" "0" "00006" "ASPM_000404" "g.197108968_197108971del" "2/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197139838_197139841del" "" "pathogenic (recessive)" "" "0000921206" "3" "90" "1" "197097765" "197097765" "subst" "3.25283E-5" "00006" "ASPM_000394" "g.197097765G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197128635G>A" "" "pathogenic (recessive)" "" "0000921207" "3" "90" "1" "197062298" "197062298" "subst" "1.22517E-5" "00006" "ASPM_000276" "g.197062298G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197093168G>A" "" "pathogenic (recessive)" "" "0000921208" "3" "90" "1" "197070364" "197070364" "subst" "4.09283E-6" "00006" "ASPM_000007" "g.197070364G>A" "4/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101234G>A" "" "pathogenic (recessive)" "" "0000921209" "1" "90" "1" "197112580" "197112581" "del" "0" "00006" "ASPM_000419" "g.197112580_197112581del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197143450_197143451del" "" "pathogenic (recessive)" "" "0000921210" "3" "90" "1" "197112746" "197112746" "del" "0" "00006" "ASPM_000422" "g.197112746del" "2/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197143616del" "" "pathogenic (recessive)" "" "0000921211" "3" "90" "1" "197115451" "197115452" "del" "0" "00006" "ASPM_000431" "g.197115451_197115452del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197146321_197146322del" "" "pathogenic (recessive)" "" "0000921212" "1" "90" "1" "197070248" "197070251" "del" "0" "00006" "ASPM_000179" "g.197070248_197070251del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101118_197101121del" "" "pathogenic (recessive)" "" "0000921213" "1" "90" "1" "197070718" "197070718" "del" "0" "00006" "ASPM_000325" "g.197070718del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101588del" "" "pathogenic (recessive)" "" "0000921214" "1" "90" "1" "197087023" "197087024" "ins" "1.2214E-5" "00006" "ASPM_000223" "g.197087023_197087024insT" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197117893_197117894insT" "" "pathogenic (recessive)" "" "0000921215" "1" "90" "1" "197111658" "197111661" "del" "0" "00006" "ASPM_000407" "g.197111658_197111661del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197142528_197142531del" "" "pathogenic (recessive)" "" "0000921216" "1" "90" "1" "197102478" "197102478" "subst" "1.22429E-5" "00006" "ASPM_000399" "g.197102478A>G" "2/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197133348A>G" "" "pathogenic (recessive)" "" "0000921217" "3" "90" "1" "197070364" "197070364" "subst" "4.09283E-6" "00006" "ASPM_000007" "g.197070364G>A" "4/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101234G>A" "" "pathogenic (recessive)" "" "0000921218" "3" "90" "1" "197070364" "197070364" "subst" "4.09283E-6" "00006" "ASPM_000007" "g.197070364G>A" "4/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101234G>A" "" "pathogenic (recessive)" "" "0000921219" "0" "90" "1" "197072192" "197072192" "subst" "0" "00006" "ASPM_000264" "g.197072192A>C" "2/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197103062A>C" "" "pathogenic (recessive)" "" "0000921220" "0" "90" "1" "197072192" "197072192" "subst" "0" "00006" "ASPM_000264" "g.197072192A>C" "2/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197103062A>C" "" "pathogenic (recessive)" "" "0000921221" "3" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "4/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921222" "3" "90" "1" "197108968" "197108971" "del" "0" "00006" "ASPM_000404" "g.197108968_197108971del" "2/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197139838_197139841del" "" "pathogenic (recessive)" "" "0000921223" "3" "90" "1" "197112244" "197112244" "subst" "0" "00006" "ASPM_000417" "g.197112244G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197143114G>A" "" "pathogenic (recessive)" "" "0000921224" "3" "90" "1" "197069669" "197069670" "del" "1.63516E-5" "00006" "ASPM_000220" "g.197069669_197069670del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197100539_197100540del" "" "pathogenic (recessive)" "" "0000921225" "1" "90" "1" "197091104" "197091104" "subst" "1.22305E-5" "00006" "ASPM_000117" "g.197091104G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197121974G>A" "" "pathogenic (recessive)" "" "0000921226" "3" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "4/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921227" "1" "90" "1" "197102478" "197102478" "subst" "1.22429E-5" "00006" "ASPM_000399" "g.197102478A>G" "2/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197133348A>G" "" "pathogenic (recessive)" "" "0000921228" "3" "90" "1" "197073586" "197073586" "subst" "4.09008E-6" "00006" "ASPM_000355" "g.197073586G>A" "3/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197104456G>A" "" "pathogenic (recessive)" "" "0000921229" "3" "90" "1" "197060059" "197060059" "subst" "4.07644E-6" "00006" "ASPM_000295" "g.197060059G>C" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197090929G>C" "" "pathogenic (recessive)" "" "0000921230" "1" "90" "1" "197094292" "197094292" "del" "0" "00006" "ASPM_000387" "g.197094292del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197125162del" "" "pathogenic (recessive)" "" "0000921231" "3" "90" "1" "197073586" "197073586" "subst" "4.09008E-6" "00006" "ASPM_000355" "g.197073586G>A" "3/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197104456G>A" "" "pathogenic (recessive)" "" "0000921232" "3" "90" "1" "197073586" "197073586" "subst" "4.09008E-6" "00006" "ASPM_000355" "g.197073586G>A" "3/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197104456G>A" "" "pathogenic (recessive)" "" "0000921233" "3" "90" "1" "197062385" "197062385" "subst" "0" "00006" "ASPM_000305" "g.197062385G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197093255G>A" "" "pathogenic (recessive)" "" "0000921234" "3" "90" "1" "197065212" "197065212" "subst" "0" "00006" "ASPM_000307" "g.197065212C>T" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197096082C>T" "" "pathogenic (recessive)" "" "0000921235" "3" "90" "1" "197070530" "197070530" "dup" "0" "00006" "ASPM_000322" "g.197070530dup" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101400dup" "" "pathogenic (recessive)" "" "0000921236" "1" "90" "1" "197099103" "197099103" "subst" "0" "00006" "ASPM_000396" "g.197099103C>T" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197129973C>T" "" "pathogenic (recessive)" "" "0000921237" "2" "90" "1" "197059134" "197059134" "subst" "3.67125E-5" "00006" "ASPM_000287" "g.197059134G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197090004G>A" "" "pathogenic (recessive)" "" "0000921238" "2" "90" "1" "197071077" "197071077" "dup" "0" "00006" "ASPM_000332" "g.197071077dup" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101947dup" "" "pathogenic (recessive)" "" "0000921239" "2" "90" "1" "197060162" "197060162" "subst" "8.18592E-6" "00006" "ASPM_000298" "g.197060162G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197091032G>A" "" "pathogenic (recessive)" "" "0000921240" "2" "90" "1" "197093236" "197093239" "del" "0" "00006" "ASPM_000378" "g.197093236_197093239del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "3390+3_6del" "" "Germline" "" "" "0" "" "" "g.197124106_197124109del" "" "pathogenic (recessive)" "" "0000921241" "2" "90" "1" "197061175" "197061176" "del" "0" "00006" "ASPM_000301" "g.197061175_197061176del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197092045_197092046del" "" "pathogenic (recessive)" "" "0000921242" "2" "90" "1" "197070556" "197070556" "subst" "0" "00006" "ASPM_000221" "g.197070556G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101426G>A" "" "pathogenic (recessive)" "" "0000921243" "2" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "4/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921244" "2" "90" "1" "197097620" "197097620" "dup" "0" "00006" "ASPM_000392" "g.197097620dup" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197128490dup" "" "pathogenic (recessive)" "" "0000921245" "2" "90" "1" "197062372" "197062372" "subst" "0" "00006" "ASPM_000304" "g.197062372A>T" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197093242A>T" "" "pathogenic (recessive)" "" "0000921246" "2" "90" "1" "197087040" "197087041" "del" "0" "00006" "ASPM_000183" "g.197087040_197087041del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197117910_197117911del" "" "pathogenic (recessive)" "" "0000921247" "2" "90" "1" "197059425" "197059425" "subst" "4.07551E-6" "00006" "ASPM_000263" "g.197059425G>A" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197090295G>A" "" "pathogenic (recessive)" "" "0000921248" "2" "90" "1" "197073654" "197073655" "del" "0" "00006" "ASPM_000356" "g.197073654_197073655del" "1/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197104524_197104525del" "" "pathogenic (recessive)" "" "0000921249" "2" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "4/78 chromosomes MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921250" "0" "30" "1" "197102704" "197102704" "subst" "1.21941E-5" "00006" "ASPM_000400" "g.197102704A>G" "" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197133574A>G" "" "likely benign" "" "0000921251" "0" "30" "1" "197074168" "197074168" "subst" "0.00525863" "00006" "ASPM_000114" "g.197074168G>A" "" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "rs139367209" "0" "" "" "g.197105038G>A" "" "likely benign" "" "0000921252" "3" "30" "1" "197070564" "197070564" "subst" "0" "00006" "ASPM_000323" "g.197070564G>T" "" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197101434G>T" "" "likely benign" "" "0000921253" "0" "50" "1" "197115509" "197115509" "subst" "0" "00006" "ASPM_000432" "g.197115509G>A" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197146379G>A" "" "VUS" "" "0000921254" "0" "50" "1" "197115345" "197115345" "subst" "0.00236405" "00006" "ASPM_000159" "g.197115345C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs61995747" "0" "" "" "g.197146215C>T" "" "VUS" "" "0000921255" "0" "50" "1" "197112781" "197112781" "subst" "2.03982E-5" "00006" "ASPM_000425" "g.197112781T>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197143651T>C" "" "VUS" "" "0000921256" "0" "50" "1" "197112773" "197112773" "subst" "4.08607E-6" "00006" "ASPM_000423" "g.197112773G>A" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197143643G>A" "" "VUS" "" "0000921257" "0" "50" "1" "197112736" "197112736" "subst" "0.00173049" "00006" "ASPM_000421" "g.197112736C>T" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs151050191" "0" "" "" "g.197143606C>T" "" "VUS" "" "0000921258" "0" "50" "1" "197112181" "197112181" "subst" "0" "00006" "ASPM_000414" "g.197112181T>C" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197143051T>C" "" "VUS" "" "0000921259" "0" "50" "1" "197111994" "197111994" "subst" "6.51179E-5" "00006" "ASPM_000411" "g.197111994C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197142864C>T" "" "VUS" "" "0000921260" "0" "50" "1" "197111887" "197111887" "subst" "8.12724E-6" "00006" "ASPM_000409" "g.197111887T>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197142757T>C" "" "VUS" "" "0000921261" "0" "50" "1" "197111665" "197111665" "subst" "0.00182483" "00006" "ASPM_000146" "g.197111665G>A" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs144049904" "0" "" "" "g.197142535G>A" "" "VUS" "" "0000921262" "0" "50" "1" "197111642" "197111642" "subst" "0.000134087" "00006" "ASPM_000406" "g.197111642G>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs147457270" "0" "" "" "g.197142512G>C" "" "VUS" "" "0000921263" "0" "50" "1" "197102681" "197102681" "subst" "0.00206862" "00006" "ASPM_000140" "g.197102681T>A" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs35203521" "0" "" "" "g.197133551T>A" "" "VUS" "" "0000921264" "0" "50" "1" "197097642" "197097642" "subst" "0.000548286" "00006" "ASPM_000393" "g.197097642A>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197128512A>C" "" "VUS" "" "0000921265" "0" "50" "1" "197094290" "197094290" "subst" "0.000316919" "00006" "ASPM_000385" "g.197094290C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs142537154" "0" "" "" "g.197125160C>T" "" "VUS" "" "0000921266" "0" "50" "1" "197091332" "197091332" "subst" "0.000183281" "00006" "ASPM_000372" "g.197091332A>G" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs181039922" "0" "" "" "g.197122202A>G" "" "VUS" "" "0000921267" "0" "30" "1" "197074168" "197074168" "subst" "0.00525863" "00006" "ASPM_000114" "g.197074168G>A" "4/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs139367209" "0" "" "" "g.197105038G>A" "" "likely benign" "" "0000921268" "0" "50" "1" "197073936" "197073936" "subst" "1.36437E-5" "00006" "ASPM_000361" "g.197073936C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197104806C>T" "" "VUS" "" "0000921269" "0" "50" "1" "197073907" "197073907" "subst" "8.58553E-6" "00006" "ASPM_000360" "g.197073907C>G" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "" "0" "" "" "g.197104777C>G" "" "VUS" "" "0000921270" "0" "50" "1" "197073885" "197073885" "subst" "0.000118442" "00006" "ASPM_000359" "g.197073885C>A" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs140119882" "0" "" "" "g.197104755C>A" "" "VUS" "" "0000921271" "0" "50" "1" "197073175" "197073175" "subst" "0.00213046" "00006" "ASPM_000103" "g.197073175G>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs62623455" "0" "" "" "g.197104045G>C" "" "VUS" "" "0000921272" "0" "50" "1" "197073157" "197073157" "subst" "0.00210519" "00006" "ASPM_000349" "g.197073157A>G" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs143733126" "0" "" "" "g.197104027A>G" "" "VUS" "" "0000921273" "0" "50" "1" "197073089" "197073089" "subst" "0" "00006" "ASPM_000348" "g.197073089C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197103959C>T" "" "VUS" "" "0000921274" "0" "50" "1" "197072929" "197072929" "subst" "0.00114096" "00006" "ASPM_000346" "g.197072929G>A" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs41299625" "0" "" "" "g.197103799G>A" "" "VUS" "" "0000921275" "0" "50" "1" "197072871" "197072871" "subst" "0.000516427" "00006" "ASPM_000222" "g.197072871C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs144969324" "0" "" "" "g.197103741C>T" "" "VUS" "" "0000921276" "0" "50" "1" "197072799" "197072799" "subst" "0" "00006" "ASPM_000345" "g.197072799T>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197103669T>C" "" "VUS" "" "0000921277" "0" "50" "1" "197072458" "197072458" "subst" "0.000122318" "00006" "ASPM_000341" "g.197072458T>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197103328T>C" "" "VUS" "" "0000921278" "0" "50" "1" "197072434" "197072434" "subst" "0.00126821" "00006" "ASPM_000096" "g.197072434T>A" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs141715950" "0" "" "" "g.197103304T>A" "" "VUS" "" "0000921279" "0" "50" "1" "197072323" "197072323" "subst" "0" "00006" "ASPM_000340" "g.197072323T>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197103193T>C" "" "VUS" "" "0000921280" "0" "50" "1" "197072256" "197072256" "subst" "0.000286118" "00006" "ASPM_000094" "g.197072256T>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "rs150327858" "0" "" "" "g.197103126T>C" "" "VUS" "" "0000921281" "0" "50" "1" "197072250" "197072250" "subst" "0.000114419" "00006" "ASPM_000200" "g.197072250T>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs145645602" "0" "" "" "g.197103120T>C" "" "VUS" "" "0000921282" "0" "50" "1" "197070953" "197070953" "subst" "0.000142691" "00006" "ASPM_000331" "g.197070953C>A" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs200654820" "0" "" "" "g.197101823C>A" "" "VUS" "" "0000921283" "0" "50" "1" "197070816" "197070816" "subst" "0.00208837" "00006" "ASPM_000079" "g.197070816A>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "7565T>G (L2522W)" "no variant second chromosome" "Germline" "" "rs62624965" "0" "" "" "g.197101686A>C" "" "VUS" "" "0000921284" "0" "50" "1" "197070711" "197070711" "subst" "0.00077717" "00006" "ASPM_000324" "g.197070711G>C" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs78215018" "0" "" "" "g.197101581G>C" "" "VUS" "" "0000921285" "0" "50" "1" "197070178" "197070178" "subst" "0.00182366" "00006" "ASPM_000195" "g.197070178A>C" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197101048A>C" "" "VUS" "" "0000921286" "0" "50" "1" "197070090" "197070090" "subst" "0" "00006" "ASPM_000313" "g.197070090T>C" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197100960T>C" "" "VUS" "" "0000921287" "0" "50" "1" "197069932" "197069932" "subst" "0.00182574" "00006" "ASPM_000063" "g.197069932C>A" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs117963393" "0" "" "" "g.197100802C>A" "" "VUS" "" "0000921288" "0" "50" "1" "197069640" "197069640" "subst" "0.000180112" "00006" "ASPM_000309" "g.197069640A>G" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs200856894" "0" "" "" "g.197100510A>G" "" "VUS" "" "0000921289" "0" "50" "1" "197062222" "197062222" "subst" "0.00169115" "00006" "ASPM_000193" "g.197062222A>G" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs138138436" "0" "" "" "g.197093092A>G" "" "VUS" "" "0000921290" "0" "50" "1" "197061161" "197061161" "subst" "8.15914E-6" "00006" "ASPM_000299" "g.197061161C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197092031C>T" "" "VUS" "" "0000921291" "0" "50" "1" "197061086" "197061086" "subst" "0.000105956" "00006" "ASPM_000192" "g.197061086A>G" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197091956A>G" "" "VUS" "" "0000921292" "0" "50" "1" "197060077" "197060077" "subst" "0.00478291" "00006" "ASPM_000050" "g.197060077T>G" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs193251130" "0" "" "" "g.197090947T>G" "" "VUS" "" "0000921293" "0" "50" "1" "197060039" "197060039" "subst" "2.85335E-5" "00006" "ASPM_000294" "g.197060039G>A" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs140679756" "0" "" "" "g.197090909G>A" "" "VUS" "" "0000921294" "0" "50" "1" "197059493" "197059493" "subst" "0" "00006" "ASPM_000292" "g.197059493C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197090363C>T" "" "VUS" "" "0000921295" "0" "50" "1" "197059121" "197059121" "subst" "8.15268E-6" "00006" "ASPM_000286" "g.197059121C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "rs201362977" "0" "" "" "g.197089991C>T" "" "VUS" "" "0000921296" "0" "50" "1" "197057438" "197057438" "subst" "8.14584E-6" "00006" "ASPM_000282" "g.197057438G>C" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "no variant second chromosome" "Germline" "" "" "0" "" "" "g.197088308G>C" "" "VUS" "" "0000921297" "0" "50" "1" "197069857" "197069857" "subst" "4.50432E-5" "00006" "ASPM_000062" "g.197069857G>A" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "rs112946633" "0" "" "" "g.197100727G>A" "" "VUS" "" "0000921298" "0" "50" "1" "197072434" "197072434" "subst" "0.00126821" "00006" "ASPM_000096" "g.197072434T>A" "2/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "rs141715950" "0" "" "" "g.197103304T>A" "" "VUS" "" "0000921299" "0" "50" "1" "197073082" "197073082" "subst" "0.000359172" "00006" "ASPM_000347" "g.197073082C>G" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "rs142536561" "0" "" "" "g.197103952C>G" "" "VUS" "" "0000921300" "0" "50" "1" "197059133" "197059133" "subst" "0.000244714" "00006" "ASPM_000046" "g.197059133C>T" "1/400 cases MCPH" "{PMID:Tan 2014:23611254}" "" "" "" "Germline" "" "rs149859034" "0" "" "" "g.197090003C>T" "" "VUS" "" "0000921318" "3" "90" "1" "197094320" "197094320" "subst" "4.06359E-6" "00006" "ASPM_000388" "g.197094320G>A" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125190G>A" "" "pathogenic (recessive)" "" "0000921319" "3" "90" "1" "197094320" "197094320" "subst" "4.06359E-6" "00006" "ASPM_000388" "g.197094320G>A" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125190G>A" "" "pathogenic (recessive)" "" "0000921320" "3" "90" "1" "197094291" "197094291" "subst" "0" "00006" "ASPM_000386" "g.197094291C>T" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125161C>T" "" "pathogenic (recessive)" "" "0000921321" "3" "90" "1" "197094291" "197094291" "subst" "0" "00006" "ASPM_000386" "g.197094291C>T" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125161C>T" "" "pathogenic (recessive)" "" "0000921322" "3" "90" "1" "197094291" "197094291" "subst" "0" "00006" "ASPM_000386" "g.197094291C>T" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125161C>T" "" "pathogenic (recessive)" "" "0000921323" "3" "90" "1" "197094291" "197094291" "subst" "0" "00006" "ASPM_000386" "g.197094291C>T" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125161C>T" "" "pathogenic (recessive)" "" "0000921324" "3" "90" "1" "197094291" "197094291" "subst" "0" "00006" "ASPM_000386" "g.197094291C>T" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125161C>T" "" "pathogenic (recessive)" "" "0000921325" "3" "90" "1" "197094291" "197094291" "subst" "0" "00006" "ASPM_000386" "g.197094291C>T" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125161C>T" "" "pathogenic (recessive)" "" "0000921327" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" "" "0000921328" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" "" "0000921329" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" "" "0000921330" "3" "90" "1" "197094323" "197094323" "subst" "0" "00006" "ASPM_000389" "g.197094323T>C" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125193T>C" "" "pathogenic (recessive)" "" "0000921331" "3" "90" "1" "197094323" "197094323" "subst" "0" "00006" "ASPM_000389" "g.197094323T>C" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125193T>C" "" "pathogenic (recessive)" "" "0000921332" "3" "90" "1" "197094323" "197094323" "subst" "0" "00006" "ASPM_000389" "g.197094323T>C" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197125193T>C" "" "pathogenic (recessive)" "" "0000921336" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" "" "0000921337" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" "" "0000921338" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" "" "0000921339" "3" "90" "1" "197062286" "197062286" "subst" "2.85915E-5" "00006" "ASPM_000166" "g.197062286G>A" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197093156G>A" "" "pathogenic (recessive)" "" "0000921340" "3" "90" "1" "197062286" "197062286" "subst" "2.85915E-5" "00006" "ASPM_000166" "g.197062286G>A" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197093156G>A" "" "pathogenic (recessive)" "" "0000921341" "3" "90" "1" "197062286" "197062286" "subst" "2.85915E-5" "00006" "ASPM_000166" "g.197062286G>A" "" "{PMID:Kraemer 2016:26548919}" "" "" "" "Germline" "" "" "0" "" "" "g.197093156G>A" "" "pathogenic (recessive)" "" "0000921342" "3" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Kraemer 2016:26548919}" "" "7782_7783delGA" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921343" "3" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Kraemer 2016:26548919}" "" "7782_7783delGA" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921344" "3" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Kraemer 2016:26548919}" "" "7782_7783delGA" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921345" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" "" "0000921346" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" "" "0000921347" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" "" "0000921348" "3" "90" "1" "197070184" "197070185" "del" "0" "00006" "ASPM_000315" "g.197070184_197070185del" "" "{PMID:Kraemer 2016:26548919}" "" "8200_8201delAA" "" "Germline" "" "" "0" "" "" "g.197101054_197101055del" "" "pathogenic (recessive)" 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"" "0" "" "" "g.197102683G>A" "" "pathogenic (recessive)" "" "0000921454" "3" "90" "1" "197069679" "197069679" "del" "0" "00006" "ASPM_000029" "g.197069679del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197100549del" "" "pathogenic (recessive)" "" "0000921455" "3" "90" "1" "197069679" "197069679" "del" "0" "00006" "ASPM_000029" "g.197069679del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197100549del" "" "pathogenic (recessive)" "" "0000921456" "3" "90" "1" "197069679" "197069679" "del" "0" "00006" "ASPM_000029" "g.197069679del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197100549del" "" "pathogenic (recessive)" "" "0000921457" "3" "90" "1" "197112244" "197112244" "subst" "0" "00006" "ASPM_000417" "g.197112244G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197143114G>A" "" "pathogenic (recessive)" "" "0000921458" "3" "90" "1" "197108968" "197108971" "del" "0" "00006" 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"" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921463" "1" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921464" "1" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921465" "1" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921466" "1" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921467" "1" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921468" "3" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921469" "1" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921470" "3" "90" "1" "197070599" "197070600" "del" "0" "00006" "ASPM_000168" "g.197070599_197070600del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101469_197101470del" "" "pathogenic (recessive)" "" "0000921471" "3" "90" "1" "197070188" "197070191" "del" "0" "00006" "ASPM_000316" "g.197070188_197070191del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101058_197101061del" "" "pathogenic (recessive)" "" "0000921472" "3" "90" "1" "197059458" "197059458" "subst" "8.16073E-6" "00006" "ASPM_000164" "g.197059458G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197090328G>A" "" "pathogenic (recessive)" "" "0000921473" "3" "90" "1" "197056096" "197056096" "subst" "1.24175E-5" "00006" "ASPM_000281" "g.197056096G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197086966G>A" "" "pathogenic (recessive)" "" "0000921474" "11" "90" "1" "197071462" "197071462" "subst" "4.0872E-6" "00006" "ASPM_000025" "g.197071462G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197102332G>A" "" "pathogenic (recessive)" "" "0000921475" "2" "90" "1" "197059134" "197059134" "subst" "3.67125E-5" "00006" "ASPM_000287" "g.197059134G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197090004G>A" "" "pathogenic (recessive)" "" "0000921476" "2" "90" "1" "197070188" "197070191" "del" "0" "00006" "ASPM_000316" "g.197070188_197070191del" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101058_197101061del" "" "pathogenic (recessive)" "" "0000921477" "2" "90" "1" "197070364" "197070364" "subst" "4.09283E-6" "00006" "ASPM_000007" "g.197070364G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101234G>A" "" "pathogenic (recessive)" "" "0000921478" "2" "90" "1" "197070364" "197070364" "subst" "4.09283E-6" "00006" "ASPM_000007" "g.197070364G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197101234G>A" "" "pathogenic (recessive)" "" "0000921479" "2" "90" "1" "197059425" "197059425" "subst" "4.07551E-6" "00006" "ASPM_000263" "g.197059425G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197090295G>A" "" "pathogenic (recessive)" "" "0000921480" "2" "90" "1" "197059425" "197059425" "subst" "4.07551E-6" "00006" "ASPM_000263" "g.197059425G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197090295G>A" "" "pathogenic (recessive)" "" "0000921481" "2" "90" "1" "197061162" "197061162" "subst" "0" "00006" "ASPM_000300" "g.197061162G>A" "" "{PMID:Letard 2018:29243349}" "" "" "" "Germline" "" "" "0" "" "" "g.197092032G>A" "" "pathogenic (recessive)" "" "0000928087" "0" "10" "1" "197070594" "197070594" "subst" "0.00488854" "02326" "ASPM_000182" "g.197070594A>G" "" "" "" "ASPM(NM_018136.4):c.7787T>C (p.V2596A), ASPM(NM_018136.5):c.7787T>C (p.V2596A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928088" "0" "90" "1" "197070599" "197070600" "del" "0" "02326" "ASPM_000168" "g.197070599_197070600del" "" "" "" "ASPM(NM_018136.4):c.7782_7783delGA (p.K2595Sfs*6), ASPM(NM_018136.5):c.7782_7783delGA (p.K2595Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928089" "0" "90" "1" "197073475" "197073475" "del" "0" "02329" "ASPM_000433" "g.197073475del" "" "" "" "ASPM(NM_018136.5):c.4906delG (p.V1636Sfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928090" "0" "90" "1" "197073654" "197073655" "del" "0" "02329" "ASPM_000356" "g.197073654_197073655del" "" "" "" "ASPM(NM_018136.5):c.4728_4729delAG (p.R1576Sfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928091" "0" "10" "1" "197091286" "197091286" "subst" "0.00141388" "02326" "ASPM_000035" "g.197091286T>C" "" "" "" "ASPM(NM_018136.4):c.3741+3A>G, ASPM(NM_018136.5):c.3741+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928092" "0" "90" "1" "197112933" "197112933" "del" "0" "02326" "ASPM_000434" "g.197112933del" "" "" "" "ASPM(NM_018136.5):c.451delT (p.W151Gfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947082" "0" "90" "1" "197070599" "197070600" "del" "0" "02325" "ASPM_000168" "g.197070599_197070600del" "" "" "" "ASPM(NM_018136.4):c.7782_7783delGA (p.K2595Sfs*6), ASPM(NM_018136.5):c.7782_7783delGA (p.K2595Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947083" "0" "50" "1" "197073529" "197073529" "subst" "1.63419E-5" "02325" "ASPM_000435" "g.197073529C>T" "" "" "" "ASPM(NM_018136.5):c.4852G>A (p.A1618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947084" "0" "50" "1" "197073943" "197073943" "subst" "0" "01804" "ASPM_000436" "g.197073943C>A" "" "" "" "ASPM(NM_018136.4):c.4438G>T (p.(Glu1480Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947085" "0" "70" "1" "197112805" "197112805" "subst" "0" "01804" "ASPM_000426" "g.197112805G>A" "" "" "" "ASPM(NM_018136.4):c.577C>T (p.(Gln193Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947086" "0" "30" "1" "197115345" "197115345" "subst" "0.00236405" "02325" "ASPM_000159" "g.197115345C>T" "" "" "" "ASPM(NM_001206846.1):c.223G>A (p.(Ala75Thr)), ASPM(NM_018136.4):c.223G>A (p.A75T), ASPM(NM_018136.5):c.223G>A (p.A75T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973531" "0" "50" "1" "197059134" "197059134" "subst" "0" "01804" "ASPM_000437" "g.197059134G>C" "" "" "" "ASPM(NM_018136.5):c.9910C>G (p.(Arg3304Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973532" "0" "50" "1" "197061086" "197061086" "subst" "0.000105956" "01804" "ASPM_000192" "g.197061086A>G" "" "" "" "ASPM(NM_018136.4):c.9395T>C (p.L3132P), ASPM(NM_018136.5):c.9395T>C (p.(Leu3132Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973533" "0" "90" "1" "197061158" "197061158" "del" "0" "02325" "ASPM_000165" "g.197061158del" "" "" "" "ASPM(NM_018136.5):c.9324delT (p.L3109Ffs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973534" "0" "50" "1" "197071069" "197071069" "subst" "1.22532E-5" "01804" "ASPM_000438" "g.197071069G>C" "" "" "" "ASPM(NM_018136.5):c.7312C>G (p.(Gln2438Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973535" "0" "50" "1" "197072148" "197072148" "subst" "3.67158E-5" "01804" "ASPM_000439" "g.197072148C>T" "" "" "" "ASPM(NM_018136.5):c.6233G>A (p.(Arg2078Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973536" "0" "50" "1" "197072929" "197072929" "subst" "0.00114096" "01804" "ASPM_000346" "g.197072929G>A" "" "" "" "ASPM(NM_018136.5):c.5452C>T (p.(Arg1818Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973537" "0" "50" "1" "197073790" "197073790" "subst" "2.85042E-5" "02325" "ASPM_000440" "g.197073790G>A" "" "" "" "ASPM(NM_018136.5):c.4591C>T (p.R1531C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973538" "0" "50" "1" "197074085" "197074085" "subst" "2.04355E-5" "01804" "ASPM_000112" "g.197074085T>G" "" "" "" "ASPM(NM_018136.4):c.4296A>C (p.R1432S), ASPM(NM_018136.5):c.4296A>C (p.(Arg1432Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973539" "0" "50" "1" "197074167" "197074167" "subst" "7.36546E-5" "01804" "ASPM_000113" "g.197074167C>T" "" "" "" "ASPM(NM_018136.4):c.4214G>A (p.R1405H, p.(Arg1405His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973540" "0" "50" "1" "197098398" "197098398" "subst" "4.06451E-6" "01804" "ASPM_000441" "g.197098398C>G" "" "" "" "ASPM(NM_018136.5):c.2679G>C (p.(Leu893Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989538" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "03566" "ASPM_000277" "g.197087006C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000989539" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "03566" "ASPM_000277" "g.197087006C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000989540" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "03566" "ASPM_000277" "g.197087006C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000989541" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "03566" "ASPM_000277" "g.197087006C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000989542" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "03566" "ASPM_000277" "g.197087006C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000989543" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "03566" "ASPM_000277" "g.197087006C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000989544" "3" "90" "1" "197087006" "197087006" "subst" "4.0711E-6" "03566" "ASPM_000277" "g.197087006C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197117876C>T" "" "pathogenic (recessive)" "" "0000989545" "3" "90" "1" "197060059" "197060059" "subst" "4.07644E-6" "03566" "ASPM_000295" "g.197060059G>C" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197090929G>C" "" "pathogenic (recessive)" "" "0000989546" "3" "90" "1" "197060059" "197060059" "subst" "4.07644E-6" "03566" "ASPM_000295" "g.197060059G>C" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197090929G>C" "" "pathogenic (recessive)" "" "0000989547" "3" "90" "1" "197060059" "197060059" "subst" "4.07644E-6" "03566" "ASPM_000295" "g.197060059G>C" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197090929G>C" "" "pathogenic (recessive)" "" "0000989548" "3" "90" "1" "197060059" "197060059" "subst" "4.07644E-6" "03566" "ASPM_000295" "g.197060059G>C" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197090929G>C" "" "pathogenic (recessive)" "" "0000989549" "3" "90" "1" "197071387" "197071387" "subst" "0" "03566" "ASPM_000334" "g.197071387G>A" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197102257G>A" "" "pathogenic (recessive)" "" "0000989550" "3" "90" "1" "197071387" "197071387" "subst" "0" "03566" "ASPM_000334" "g.197071387G>A" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197102257G>A" "" "pathogenic (recessive)" "" "0000989551" "3" "90" "1" "197071387" "197071387" "subst" "0" "03566" "ASPM_000334" "g.197071387G>A" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197102257G>A" "" "pathogenic (recessive)" "" "0000989552" "3" "90" "1" "197071387" "197071387" "subst" "0" "03566" "ASPM_000334" "g.197071387G>A" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197102257G>A" "" "pathogenic (recessive)" "" "0000989553" "3" "90" "1" "197071387" "197071387" "subst" "0" "03566" "ASPM_000334" "g.197071387G>A" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.197102257G>A" "" "pathogenic (recessive)" "" "0000990681" "0" "30" "1" "197057388" "197057388" "subst" "0" "01804" "ASPM_000442" "g.197057388A>T" "" "" "" "ASPM(NM_018136.4):c.10159T>A (p.(Ser3387Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990682" "0" "30" "1" "197070569" "197070569" "subst" "0.000107434" "01804" "ASPM_000443" "g.197070569T>A" "" "" "" "ASPM(NM_018136.4):c.7812A>T (p.(Lys2604Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990683" "0" "30" "1" "197071224" "197071224" "subst" "0.000163276" "01804" "ASPM_000444" "g.197071224T>C" "" "" "" "ASPM(NM_018136.4):c.7157A>G (p.(His2386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990684" "0" "50" "1" "197072536" "197072536" "subst" "0" "01804" "ASPM_000445" "g.197072536G>A" "" "" "" "ASPM(NM_018136.4):c.5845C>T (p.(His1949Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990685" "0" "30" "1" "197091052" "197091052" "subst" "4.06822E-6" "01804" "ASPM_000446" "g.197091052C>T" "" "" "" "ASPM(NM_018136.4):c.3863G>A (p.(Arg1288His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990686" "0" "50" "1" "197093237" "197093237" "subst" "4.09262E-6" "01804" "ASPM_000126" "g.197093237T>C" "" "" "" "ASPM(NM_018136.4):c.3390+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990687" "0" "30" "1" "197111953" "197111953" "subst" "3.66065E-5" "01804" "ASPM_000447" "g.197111953C>A" "" "" "" "ASPM(NM_018136.4):c.1429G>T (p.(Asp477Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024091" "0" "30" "1" "197053576" "197053576" "dup" "0" "01943" "ASPM_000184" "g.197053576dup" "" "" "" "ASPM(NM_001206846.1):c.5577-6dup (p.(=)), ASPM(NM_018136.4):c.10332-6dupT, ASPM(NM_018136.5):c.10332-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030936" "3" "70" "1" "197072265" "197072268" "del" "0" "01164" "ASPM_000448" "g.197072265_197072268del" "" "" "" "" "ACMG: PVS1, PS4_SUP, PM2_SUP, PM3_SUP" "Germline" "?" "" "0" "" "" "g.197103135_197103138del" "VCV001675190.2" "pathogenic (recessive)" "ACMG" "0001031562" "0" "50" "1" "197059514" "197059514" "subst" "7.39943E-5" "01804" "ASPM_000190" "g.197059514A>G" "" "" "" "ASPM(NM_018136.4):c.9641T>C (p.L3214S), ASPM(NM_018136.5):c.9641T>C (p.(Leu3214Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031563" "0" "50" "1" "197070387" "197070387" "subst" "4.09614E-6" "01804" "ASPM_000449" "g.197070387C>G" "" "" "" "ASPM(NM_018136.5):c.7994G>C (p.(Arg2665Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031564" "0" "50" "1" "197072044" "197072044" "subst" "0" "01804" "ASPM_000450" "g.197072044T>C" "" "" "" "ASPM(NM_018136.5):c.6337A>G (p.(Ile2113Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031565" "0" "50" "1" "197073381" "197073381" "subst" "2.04412E-5" "01804" "ASPM_000451" "g.197073381C>T" "" "" "" "ASPM(NM_018136.5):c.5000G>A (p.(Arg1667His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031566" "0" "50" "1" "197073396" "197073396" "subst" "0.000110339" "01804" "ASPM_000452" "g.197073396A>C" "" "" "" "ASPM(NM_018136.5):c.4985T>G (p.(Ile1662Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031567" "0" "50" "1" "197073979" "197073979" "subst" "0.000199879" "01804" "ASPM_000453" "g.197073979C>T" "" "" "" "ASPM(NM_018136.5):c.4402G>A (p.(Ala1468Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031568" "0" "50" "1" "197074072" "197074072" "subst" "6.95211E-5" "01804" "ASPM_000454" "g.197074072G>A" "" "" "" "ASPM(NM_018136.5):c.4309C>T (p.(Arg1437Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031569" "0" "50" "1" "197093250" "197093250" "subst" "1.63227E-5" "01804" "ASPM_000455" "g.197093250T>C" "" "" "" "ASPM(NM_018136.5):c.3380A>G (p.(Tyr1127Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031570" "0" "30" "1" "197094328" "197094328" "subst" "4.06375E-6" "01804" "ASPM_000456" "g.197094328G>A" "" "" "" "ASPM(NM_018136.5):c.2937-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031571" "0" "50" "1" "197102630" "197102630" "subst" "8.1246E-6" "01804" "ASPM_000457" "g.197102630T>C" "" "" "" "ASPM(NM_018136.5):c.2269A>G (p.(Thr757Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031572" "0" "50" "1" "197112670" "197112670" "subst" "6.91963E-5" "01804" "ASPM_000213" "g.197112670G>A" "" "" "" "ASPM(NM_018136.4):c.712C>T (p.P238S), ASPM(NM_018136.5):c.712C>T (p.(Pro238Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031573" "0" "50" "1" "197115421" "197115421" "subst" "0" "01804" "ASPM_000458" "g.197115421G>T" "" "" "" "ASPM(NM_018136.5):c.147C>A (p.(Phe49Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049031" "3" "90" "1" "197112746" "197112746" "del" "0" "00006" "ASPM_000422" "g.197112746del" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.637delA" "" "Germline" "" "" "0" "" "" "g.197143616del" "" "pathogenic (recessive)" "" ## 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 ASPM ## Count = 867 "{{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}}" "0000087503" "00000058" "70" "3168" "1" "3168" "1" "c.3168+1G>C" "r.spl?" "p.?" "12" "0000087504" "00000058" "70" "7783" "0" "7786" "0" "c.7783_7786del" "r.(?)" "p.(Lys2595Tyrfs*20)" "18" "0000087521" "00000058" "70" "2389" "0" "2389" "0" "c.2389C>T" "r.(?)" "p.(Arg797*)" "6" "0000087523" "00000058" "70" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*5)" "5" "0000130141" "00000058" "90" "8017" "0" "8017" "0" "c.8017C>T" "r.(?)" "p.(Gln2673*)" "" "0000130199" "00000058" "70" "7323" "0" "7323" "0" "c.7323T>A" "r.(?)" "p.(Tyr2441*)" "" "0000222114" "00000058" "70" "1850" "0" "1853" "0" "c.1850_1853del" "r.(1850_1853del)" "p.(Thr617Lysfs*3)" "3" "0000222115" "00000058" "70" "1943" "0" "1943" "0" "c.1943dup" "r.(1943dup)" "p.(Ile649Asnfs*3)" "4" "0000222116" "00000058" "70" "2638" "0" "2638" "0" "c.2638G>T" "r.(2638g>u)" "p.(Glu880*)" "9" "0000222117" "00000058" "70" "2936" "2" "2936" "2" "c.2936+2T>C" "r.spl?" "p.?" "10i" "0000222118" "00000058" "70" "3185" "0" "3189" "0" "c.3185_3189del" "r.(3185_3189del)" "p.(Asn1062Argfs*28)" "13" "0000222146" "00000058" "70" "3269" "0" "3269" "0" "c.3269dup" "r.(3269dup)" "p.(Asp1091*)" "13" "0000222147" "00000058" "70" "4732" "0" "4732" "0" "c.4732C>T" "r.(4732c>u)" "p.(Arg1578*)" "" "0000222169" "00000058" "70" "4806" "0" "4806" "0" "c.4806T>G" "r.(4806u>g)" "p.(Tyr1602*)" "" "0000222170" "00000058" "70" "4994" "0" "4998" "0" "c.4994_4998dup" "r.(4994_4998dup)" "p.(Arg1667Ilefs*12)" "" "0000222171" "00000058" "70" "5886" "0" "5887" "0" "c.5886_5887del" "r.(5886_5887del)" "p.(Leu1963Glufs*9)" "" "0000222172" "00000058" "70" "5940" "0" "5940" "0" "c.5940del" "r.(5940del)" "p.(Tyr1981Ilefs*13)" "" "0000222173" "00000058" "70" "6513" "0" "6513" "0" "c.6513dup" "r.(6513dup)" "p.(Val2172Serfs*7)" "18" "0000222242" "00000058" "70" "6568" "0" "6568" "0" "c.6568C>T" "r.(6568c>u)" "p.(Gln2190*)" "" "0000222306" "00000058" "70" "6568" "0" "6568" "0" "c.6568C>T" "r.(6568c>u)" "p.(Gln2190*)" "" "0000222307" "00000058" "70" "6658" "0" "6658" "0" "c.6658C>T" "r.(6658c>u)" "p.(Gln2220*)" "" "0000222308" "00000058" "70" "6919" "0" "6919" "0" "c.6919C>T" "r.(6919c>u)" "p.(Gln2307*)" "" "0000222317" "00000058" "70" "6920" "0" "6921" "0" "c.6920_6921del" "r.(6920_6921del)" "p.(Gln2307Leufs*10)" "" "0000222318" "00000058" "70" "7744" "0" "7744" "0" "c.7744del" "r.(7744del)" "p.(Ile2582Serfs*34)" "18" "0000222319" "00000058" "70" "7753" "0" "7753" "0" "c.7753G>T" "r.(7753g>u)" "p.(Glu2585*)" "" "0000222320" "00000058" "70" "8599" "0" "8599" "0" "c.8599delinsAT" "r.(8599delinsau)" "p.(Gln2867Ilefs*5)" "" "0000222321" "00000058" "70" "9446" "0" "9447" "0" "c.9446_9447del" "r.(9446_9447del)" "p.(Arg3149Metfs*17)" "" "0000222323" "00000058" "70" "8702" "0" "8702" "0" "c.8702del" "r.(8702del)" "p.(His2901Leufs*37)" "" "0000222324" "00000058" "70" "8702" "0" "8702" "0" "c.8702del" "r.(8207del)" "p.(His2901Leufs*37)" "" "0000222326" "00000058" "70" "3741" "3" "3741" "3" "c.3741+3A>G" "r.spl?" "p.?" "" "0000222327" "00000058" "70" "10369" "0" "10369" "0" "c.10369del" "r.(10369del)" "p.(Glu3457Lysfs*13" "28" "0000244152" "00000058" "90" "7573" "0" "7574" "0" "c.7573_7574del" "r.(?)" "p.(Glu2525Lysfs*17)" "18" "0000244153" "00000058" "90" "1729" "0" "1730" "0" "c.1729_1730del" "r.(?)" "p.(Ser577Argfs*33)" "3" "0000244154" "00000058" "90" "9084" "5" "9084" "5" "c.9084+5G>A" "r.spl?" "p.?" "20i" "0000247935" "00000058" "10" "3579" "0" "3579" "0" "c.3579T>A" "r.(?)" "p.(Ser1193=)" "" "0000248010" "00000058" "10" "7480" "0" "7480" "0" "c.7480T>C" "r.(?)" "p.(Tyr2494His)" "" "0000248011" "00000058" "10" "2174" "-20" "2174" "-20" "c.2174-20T>C" "r.(=)" "p.(=)" "" "0000248059" "00000058" "30" "3742" "-10" "3742" "-10" "c.3742-10T>G" "r.(=)" "p.(=)" "" "0000249730" "00000058" "50" "5393" "0" "5393" "0" "c.5393T>G" "r.(?)" "p.(Phe1798Cys)" "" "0000253196" "00000058" "10" "3579" "0" "3579" "0" "c.3579T>A" "r.(?)" "p.(Ser1193=)" "" "0000253271" "00000058" "10" "7480" "0" "7480" "0" "c.7480T>C" "r.(?)" "p.(Tyr2494His)" "" "0000253272" "00000058" "10" "2174" "-20" "2174" "-20" "c.2174-20T>C" "r.(=)" "p.(=)" "" "0000253320" "00000058" "10" "3742" "-10" "3742" "-10" "c.3742-10T>G" "r.(=)" "p.(=)" "" "0000253431" "00000058" "10" "2805" "0" "2805" "0" "c.2805T>C" "r.(?)" "p.(Ser935=)" "" "0000253514" "00000058" "10" "5821" "0" "5821" "0" "c.5821T>C" "r.(?)" "p.(Cys1941Arg)" "" "0000253575" "00000058" "10" "1977" "0" "1977" "0" "c.1977T>C" "r.(?)" "p.(Ile659=)" "" "0000253613" "00000058" "10" "9395" "0" "9395" "0" "c.9395T>G" "r.(?)" "p.(Leu3132Arg)" "" "0000253711" "00000058" "10" "7787" "0" "7787" "0" "c.7787T>C" "r.(?)" "p.(Val2596Ala)" "" "0000253733" "00000058" "10" "9085" "-3" "9085" "-3" "c.9085-3T>C" "r.spl?" "p.?" "" "0000254187" "00000058" "30" "9657" "0" "9657" "0" "c.9657T>G" "r.(?)" "p.(Ser3219=)" "" "0000254188" "00000058" "30" "7551" "0" "7551" "0" "c.7551T>C" "r.(?)" "p.(Tyr2517=)" "" "0000254189" "00000058" "30" "6775" "0" "6775" "0" "c.6775T>C" "r.(?)" "p.(Leu2259=)" "" "0000254310" "00000058" "30" "9676" "0" "9676" "0" "c.9676T>G" "r.(?)" "p.(Cys3226Gly)" "" "0000254567" "00000058" "30" "1931" "0" "1931" "0" "c.1931T>A" "r.(?)" "p.(Ile644Lys)" "" "0000255164" "00000058" "30" "10255" "0" "10255" "0" "c.10255T>C" "r.(?)" "p.(Tyr3419His)" "" "0000255836" "00000058" "50" "9492" "0" "9492" "0" "c.9492T>C" "r.(?)" "p.(Tyr3164=)" "" "0000255965" "00000058" "50" "2873" "0" "2873" "0" "c.2873T>C" "r.(?)" "p.(Phe958Ser)" "" "0000256041" "00000058" "50" "8009" "0" "8009" "0" "c.8009T>C" "r.(?)" "p.(Ile2670Thr)" "" "0000256055" "00000058" "50" "9107" "0" "9107" "0" "c.9107T>C" "r.(?)" "p.(Ile3036Thr)" "" "0000259157" "00000058" "10" "10331" "8" "10331" "8" "c.10331+8A>G" "r.(=)" "p.(=)" "" "0000259158" "00000058" "10" "3138" "0" "3138" "0" "c.3138G>A" "r.(?)" "p.(Arg1046=)" "" "0000259159" "00000058" "10" "441" "14" "441" "14" "c.441+14C>T" "r.(=)" "p.(=)" "" "0000259160" "00000058" "10" "4449" "0" "4449" "0" "c.4449A>G" "r.(?)" "p.(Lys1483=)" "" "0000259161" "00000058" "10" "7605" "0" "7605" "0" "c.7605G>A" "r.(?)" "p.(Val2535=)" "" "0000259162" "00000058" "10" "7674" "0" "7674" "0" "c.7674C>T" "r.(?)" "p.(Ile2558=)" "" "0000259163" "00000058" "10" "7684" "0" "7684" "0" "c.7684A>G" "r.(?)" "p.(Ser2562Gly)" "" "0000259164" "00000058" "10" "7939" "0" "7939" "0" "c.7939C>A" "r.(?)" "p.(Leu2647Ile)" "" "0000259165" "00000058" "10" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ser283=)" "" "0000259682" "00000058" "50" "10261" "0" "10261" "0" "c.10261C>A" "r.(?)" "p.(Gln3421Lys)" "" "0000261125" "00000058" "90" "3811" "0" "3811" "0" "c.3811C>T" "r.(?)" "p.(Arg1271Ter)" "" "0000261126" "00000058" "90" "8773" "0" "8773" "0" "c.8773C>T" "r.(?)" "p.(Gln2925Ter)" "" "0000261127" "00000058" "30" "9539" "0" "9539" "0" "c.9539A>C" "r.(?)" "p.(Gln3180Pro)" "" "0000263037" "00000058" "30" "10061" "0" "10061" "0" "c.10061G>A" "r.(?)" "p.(Arg3354Gln)" "" "0000263038" "00000058" "50" "10279" "0" "10279" "0" "c.10279A>G" "r.(?)" "p.(Ile3427Val)" "" "0000263039" "00000058" "30" "10331" "18" "10331" "18" "c.10331+18G>A" "r.(=)" "p.(=)" "" "0000263040" "00000058" "10" "10331" "8" "10331" "8" "c.10331+8A>G" "r.(=)" "p.(=)" "" "0000263041" "00000058" "30" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Val38Ile)" "" "0000263042" "00000058" "10" "1288" "0" "1288" "0" "c.1288A>G" "r.(?)" "p.(Arg430Gly)" "" "0000263043" "00000058" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Cys45=)" "" "0000263044" "00000058" "50" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Arg573Trp)" "" "0000263045" "00000058" "50" "1732" "0" "1732" "0" "c.1732G>A" "r.(?)" "p.(Asp578Asn)" "" "0000263046" "00000058" "30" "2004" "0" "2004" "0" "c.2004C>T" "r.(?)" "p.(Thr668=)" "" "0000263047" "00000058" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Ala75Thr)" "" "0000263048" "00000058" "10" "2307" "0" "2307" "0" "c.2307A>G" "r.(?)" "p.(Ala769=)" "" "0000263049" "00000058" "10" "2419" "12" "2419" "12" "c.2419+12G>A" "r.(=)" "p.(=)" "" "0000263050" "00000058" "30" "2420" "-20" "2420" "-20" "c.2420-20G>A" "r.(=)" "p.(=)" "" "0000263052" "00000058" "30" "2751" "0" "2751" "0" "c.2751C>T" "r.(?)" "p.(Ala917=)" "" "0000263053" "00000058" "10" "3138" "0" "3138" "0" "c.3138G>A" "r.(?)" "p.(Arg1046=)" "" "0000263054" "00000058" "90" "3202" "0" "3202" "0" "c.3202G>T" "r.(?)" "p.(Glu1068Ter)" "" "0000263055" "00000058" "10" "3269" "0" "3269" "0" "c.3269C>T" "r.(?)" "p.(Ser1090Phe)" "" "0000263056" "00000058" "30" "3390" "3" "3390" "3" "c.3390+3A>G" "r.spl?" "p.?" "" "0000263057" "00000058" "10" "3391" "-14" "3391" "-14" "c.3391-14G>T" "r.(=)" "p.(=)" "" "0000263058" "00000058" "30" "3516" "0" "3516" "0" "c.3516G>A" "r.(?)" "p.(Thr1172=)" "" "0000263059" "00000058" "50" "3566" "0" "3566" "0" "c.3566C>T" "r.(?)" "p.(Ser1189Phe)" "" "0000263060" "00000058" "30" "3726" "0" "3726" "0" "c.3726A>G" "r.(?)" "p.(Thr1242=)" "" "0000263061" "00000058" "30" "3804" "0" "3804" "0" "c.3804A>G" "r.(?)" "p.(Arg1268=)" "" "0000263062" "00000058" "10" "3912" "0" "3912" "0" "c.3912C>A" "r.(?)" "p.(Ile1304=)" "" "0000263063" "00000058" "50" "4118" "0" "4120" "0" "c.4118_4120del" "r.(?)" "p.(Tyr1373del)" "" "0000263064" "00000058" "50" "4213" "0" "4213" "0" "c.4213C>T" "r.(?)" "p.(Arg1405Cys)" "" "0000263065" "00000058" "50" "4214" "0" "4214" "0" "c.4214G>A" "r.(?)" "p.(Arg1405His)" "" "0000263066" "00000058" "50" "4296" "0" "4296" "0" "c.4296A>C" "r.(?)" "p.(Arg1432Ser)" "" "0000263067" "00000058" "30" "4314" "0" "4314" "0" "c.4314A>G" "r.(?)" "p.(Lys1438=)" "" "0000263068" "00000058" "10" "441" "14" "441" "14" "c.441+14C>T" "r.(=)" "p.(=)" "" "0000263069" "00000058" "10" "441" "23" "441" "23" "c.441+23A>G" "r.(=)" "p.(=)" "" "0000263070" "00000058" "10" "4449" "0" "4449" "0" "c.4449A>G" "r.(?)" "p.(Lys1483=)" "" "0000263071" "00000058" "30" "4488" "0" "4488" "0" "c.4488A>G" "r.(?)" "p.(Lys1496=)" "" "0000263072" "00000058" "10" "5063" "0" "5063" "0" "c.5063C>T" "r.(?)" "p.(Thr1688Ile)" "" "0000263073" "00000058" "50" "5083" "0" "5083" "0" "c.5083C>T" "r.(?)" "p.(Arg1695Cys)" "" "0000263074" "00000058" "30" "5185" "0" "5185" "0" "c.5185C>T" "r.(?)" "p.(Arg1729Trp)" "" "0000263075" "00000058" "50" "5186" "0" "5186" "0" "c.5186G>A" "r.(?)" "p.(Arg1729Gln)" "" "0000263076" "00000058" "30" "5654" "0" "5654" "0" "c.5654A>G" "r.(?)" "p.(Tyr1885Cys)" "" "0000263077" "00000058" "30" "5741" "0" "5741" "0" "c.5741A>G" "r.(?)" "p.(Gln1914Arg)" "" "0000263078" "00000058" "30" "581" "0" "581" "0" "c.581C>A" "r.(?)" "p.(Ala194Asp)" "" "0000263079" "00000058" "50" "5947" "0" "5947" "0" "c.5947A>T" "r.(?)" "p.(Met1983Leu)" "" "0000263080" "00000058" "30" "6125" "0" "6125" "0" "c.6125A>G" "r.(?)" "p.(Asp2042Gly)" "" "0000263081" "00000058" "30" "6550" "0" "6550" "0" "c.6550C>T" "r.(?)" "p.(Arg2184Trp)" "" "0000263082" "00000058" "30" "6717" "0" "6717" "0" "c.6717G>C" "r.(?)" "p.(Leu2239=)" "" "0000263083" "00000058" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Pro226Ser)" "" "0000263084" "00000058" "30" "7023" "0" "7023" "0" "c.7023C>T" "r.(?)" "p.(Ile2341=)" "" "0000263085" "00000058" "30" "7074" "0" "7074" "0" "c.7074A>G" "r.(?)" "p.(Lys2358=)" "" "0000263086" "00000058" "30" "7353" "0" "7353" "0" "c.7353G>A" "r.(?)" "p.(Leu2451=)" "" "0000263087" "00000058" "50" "7372" "0" "7372" "0" "c.7372A>G" "r.(?)" "p.(Arg2458Gly)" "" "0000263088" "00000058" "50" "7475" "0" "7475" "0" "c.7475G>A" "r.(?)" "p.(Arg2492Lys)" "" "0000263089" "00000058" "30" "7554" "0" "7554" "0" "c.7554A>G" "r.(?)" "p.(Arg2518=)" "" "0000263090" "00000058" "10" "7605" "0" "7605" "0" "c.7605G>A" "r.(?)" "p.(Val2535=)" "" "0000263091" "00000058" "30" "7620" "0" "7620" "0" "c.7620A>G" "r.(?)" "p.(Ala2540=)" "" "0000263092" "00000058" "30" "7674" "0" "7674" "0" "c.7674C>A" "r.(?)" "p.(Ile2558=)" "" "0000263093" "00000058" "10" "7674" "0" "7674" "0" "c.7674C>T" "r.(?)" "p.(Ile2558=)" "" "0000263094" "00000058" "10" "7684" "0" "7684" "0" "c.7684A>G" "r.(?)" "p.(Ser2562Gly)" "" "0000263095" "00000058" "30" "7849" "0" "7849" "0" "c.7849A>G" "r.(?)" "p.(Ile2617Val)" "" "0000263096" "00000058" "10" "7860" "0" "7860" "0" "c.7860G>C" "r.(?)" "p.(Gln2620His)" "" "0000263097" "00000058" "30" "7917" "0" "7917" "0" "c.7917A>G" "r.(?)" "p.(Lys2639=)" "" "0000263098" "00000058" "10" "7939" "0" "7939" "0" "c.7939C>A" "r.(?)" "p.(Leu2647Ile)" "" "0000263099" "00000058" "50" "8068" "0" "8068" "0" "c.8068C>T" "r.(?)" "p.(Arg2690Trp)" "" "0000263100" "00000058" "30" "81" "0" "81" "0" "c.81C>A" "r.(?)" "p.(Pro27=)" "" "0000263101" "00000058" "30" "8228" "0" "8228" "0" "c.8228G>A" "r.(?)" "p.(Arg2743Gln)" "" "0000263102" "00000058" "90" "8236" "0" "8236" "0" "c.8236C>T" "r.(?)" "p.(Gln2746Ter)" "" "0000263103" "00000058" "10" "8449" "0" "8449" "0" "c.8449G>T" "r.(?)" "p.(Ala2817Ser)" "" "0000263104" "00000058" "10" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ser283=)" "" "0000263105" "00000058" "50" "8524" "0" "8524" "0" "c.8524C>T" "r.(?)" "p.(Arg2842Trp)" "" "0000263106" "00000058" "50" "8555" "0" "8555" "0" "c.8555A>G" "r.(?)" "p.(Tyr2852Cys)" "" "0000263107" "00000058" "90" "8563" "0" "8563" "0" "c.8563A>T" "r.(?)" "p.(Arg2855Ter)" "" "0000263108" "00000058" "10" "8820" "7" "8820" "7" "c.8820+7C>G" "r.(=)" "p.(=)" "" "0000263109" "00000058" "30" "8966" "0" "8966" "0" "c.8966A>G" "r.(?)" "p.(Tyr2989Cys)" "" "0000263110" "00000058" "30" "933" "0" "933" "0" "c.933C>G" "r.(?)" "p.(Ser311Arg)" "" "0000263111" "00000058" "10" "9773" "0" "9773" "0" "c.9773A>G" "r.(?)" "p.(His3258Arg)" "" "0000263112" "00000058" "50" "9911" "0" "9911" "0" "c.9911G>A" "r.(?)" "p.(Arg3304Gln)" "" "0000321188" "00000058" "30" "9318" "0" "9318" "0" "c.9318T>G" "r.(?)" "p.(Ile3106Met)" "" "0000321189" "00000058" "50" "9024" "0" "9024" "0" "c.9024G>T" "r.(?)" "p.(Gln3008His)" "" "0000321190" "00000058" "50" "8966" "0" "8966" "0" "c.8966A>G" "r.(?)" "p.(Tyr2989Cys)" "" "0000321191" "00000058" "50" "8590" "0" "8590" "0" "c.8590A>G" "r.(?)" "p.(Ile2864Val)" "" "0000321193" "00000058" "50" "8336" "0" "8336" "0" "c.8336G>A" "r.(?)" "p.(Arg2779Lys)" "" "0000321194" "00000058" "50" "8166" "0" "8166" "0" "c.8166T>C" "r.(?)" "p.(Tyr2722=)" "" "0000321196" "00000058" "50" "7792" "0" "7792" "0" "c.7792C>T" "r.(?)" "p.(Gln2598Ter)" "" "0000321197" "00000058" "50" "7565" "0" "7565" "0" "c.7565T>G" "r.(?)" "p.(Leu2522Ter)" "" "0000321198" "00000058" "50" "7382" "0" "7382" "0" "c.7382C>T" "r.(?)" "p.(Ala2461Val)" "" "0000321200" "00000058" "50" "6644" "0" "6646" "0" "c.6644_6646del" "r.(?)" "p.(Ile2215del)" "" "0000321201" "00000058" "50" "6067" "0" "6067" "0" "c.6067G>T" "r.(?)" "p.(Ala2023Ser)" "" "0000321203" "00000058" "50" "5684" "0" "5684" "0" "c.5684G>T" "r.(?)" "p.(Arg1895Ile)" "" "0000321205" "00000058" "50" "5206" "0" "5206" "0" "c.5206C>G" "r.(?)" "p.(Gln1736Glu)" "" "0000321209" "00000058" "50" "2890" "0" "2890" "0" "c.2890G>A" "r.(?)" "p.(Ala964Thr)" "" "0000321212" "00000058" "50" "2218" "0" "2218" "0" "c.2218A>T" "r.(?)" "p.(Ile740Leu)" "" "0000321213" "00000058" "50" "1451" "0" "1451" "0" "c.1451A>G" "r.(?)" "p.(Asn484Ser)" "" "0000321214" "00000058" "50" "1007" "0" "1007" "0" "c.1007C>A" "r.(?)" "p.(Thr336Lys)" "" "0000321216" "00000058" "50" "933" "0" "933" "0" "c.933C>G" "r.(?)" "p.(Ser311Arg)" "" "0000321217" "00000058" "50" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Cys302Tyr)" "" "0000321219" "00000058" "50" "844" "0" "844" "0" "c.844A>C" "r.(?)" "p.(Asn282His)" "" "0000321221" "00000058" "50" "644" "0" "644" "0" "c.644A>C" "r.(?)" "p.(Glu215Ala)" "" "0000321222" "00000058" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Ala75Thr)" "" "0000337427" "00000058" "10" "3742" "-10" "3742" "-10" "c.3742-10T>G" "r.(=)" "p.(=)" "" "0000339597" "00000058" "10" "9492" "0" "9492" "0" "c.9492T>C" "r.(?)" "p.(Tyr3164=)" "" "0000339598" "00000058" "10" "7674" "0" "7674" "0" "c.7674C>T" "r.(?)" "p.(Ile2558=)" "" "0000339599" "00000058" "10" "7605" "0" "7605" "0" "c.7605G>A" "r.(?)" "p.(Val2535=)" "" "0000339600" "00000058" "10" "7566" "0" "7566" "0" "c.7566A>G" "r.(?)" "p.(Leu2522=)" "" "0000339601" "00000058" "10" "5961" "0" "5961" "0" "c.5961A>G" "r.(?)" "p.(Gln1987=)" "" "0000339602" "00000058" "10" "4449" "0" "4449" "0" "c.4449A>G" "r.(?)" "p.(Lys1483=)" "" "0000339603" "00000058" "10" "3579" "0" "3579" "0" "c.3579T>A" "r.(?)" "p.(Ser1193=)" "" "0000339604" "00000058" "10" "1977" "0" "1977" "0" "c.1977T>C" "r.(?)" "p.(Ile659=)" "" "0000339605" "00000058" "10" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ser283=)" "" "0000341823" "00000058" "90" "3811" "0" "3811" "0" "c.3811C>T" "r.(?)" "p.(Arg1271Ter)" "" "0000341896" "00000058" "90" "4174" "0" "4174" "0" "c.4174C>T" "r.(?)" "p.(Arg1392Ter)" "" "0000342593" "00000058" "90" "9190" "0" "9190" "0" "c.9190C>T" "r.(?)" "p.(Arg3064Ter)" "" "0000342637" "00000058" "90" "9697" "0" "9697" "0" "c.9697C>T" "r.(?)" "p.(Arg3233Ter)" "" "0000344142" "00000058" "10" "1732" "0" "1732" "0" "c.1732G>A" "r.(?)" "p.(Asp578Asn)" "" "0000344711" "00000058" "90" "7792" "0" "7792" "0" "c.7792C>T" "r.(?)" "p.(Gln2598Ter)" "" "0000344730" "00000058" "90" "8506" "0" "8507" "0" "c.8506_8507del" "r.(?)" "p.(Gln2836GlufsTer35)" "" "0000347049" "00000058" "10" "7939" "0" "7939" "0" "c.7939C>A" "r.(?)" "p.(Leu2647Ile)" "" "0000347104" "00000058" "10" "9395" "0" "9395" "0" "c.9395T>G" "r.(?)" "p.(Leu3132Arg)" "" "0000348873" "00000058" "10" "7684" "0" "7684" "0" "c.7684A>G" "r.(?)" "p.(Ser2562Gly)" "" "0000349932" "00000058" "90" "4707" "0" "4707" "0" "c.4707C>A" "r.(?)" "p.(Tyr1569Ter)" "" "0000350001" "00000058" "10" "7480" "0" "7480" "0" "c.7480T>C" "r.(?)" "p.(Tyr2494His)" "" "0000351000" "00000058" "10" "10331" "8" "10331" "8" "c.10331+8A>G" "r.(=)" "p.(=)" "" "0000351002" "00000058" "10" "2419" "12" "2419" "12" "c.2419+12G>A" "r.(=)" "p.(=)" "" "0000351003" "00000058" "10" "2174" "-20" "2174" "-20" "c.2174-20T>C" "r.(=)" "p.(=)" "" "0000351004" "00000058" "10" "441" "14" "441" "14" "c.441+14C>T" "r.(=)" "p.(=)" "" "0000356925" "00000058" "90" "8133" "0" "8136" "0" "c.8133_8136del" "r.(?)" "p.(Lys2712Leufs*16)" "18" "0000356926" "00000058" "90" "804" "0" "805" "0" "c.804_805del" "r.(?)" "p.(Lys268Asnfs*4)" "3" "0000440052" "00000058" "90" "3945" "0" "3946" "0" "c.3945_3946del" "r.(?)" "p.Arg1315Serfs*2" "" "0000504622" "00000058" "30" "10332" "-6" "10332" "-6" "c.10332-6dup" "r.(=)" "p.(=)" "" "0000504623" "00000058" "50" "10157" "0" "10157" "0" "c.10157C>T" "r.(?)" "p.(Ala3386Val)" "" "0000504624" "00000058" "50" "9925" "0" "9925" "0" "c.9925A>G" "r.(?)" "p.(Ser3309Gly)" "" "0000504625" "00000058" "50" "9913" "0" "9913" "0" "c.9913A>C" "r.(?)" "p.(Ser3305Arg)" "" "0000504626" "00000058" "30" "9832" "0" "9832" "0" "c.9832G>A" "r.(?)" "p.(Val3278Ile)" "" "0000504627" "00000058" "90" "9789" "0" "9789" "0" "c.9789T>G" "r.(?)" "p.(Tyr3263Ter)" "" "0000504629" "00000058" "50" "9641" "0" "9641" "0" "c.9641T>C" "r.(?)" "p.(Leu3214Ser)" "" "0000504630" "00000058" "30" "9593" "0" "9593" "0" "c.9593G>A" "r.(?)" "p.(Arg3198His)" "" "0000504631" "00000058" "30" "9539" "0" "9539" "0" "c.9539A>C" "r.(?)" "p.(Gln3180Pro)" "" "0000504632" "00000058" "50" "9395" "0" "9395" "0" "c.9395T>C" "r.(?)" "p.(Leu3132Pro)" "" "0000504633" "00000058" "30" "9254" "0" "9254" "0" "c.9254T>C" "r.(?)" "p.(Ile3085Thr)" "" "0000504634" "00000058" "30" "9254" "0" "9254" "0" "c.9254T>C" "r.(?)" "p.(Ile3085Thr)" "" "0000504635" "00000058" "90" "9190" "0" "9190" "0" "c.9190C>T" "r.(?)" "p.(Arg3064Ter)" "" "0000504636" "00000058" "50" "9115" "0" "9115" "0" "c.9115C>G" "r.(?)" "p.(His3039Asp)" "" "0000504637" "00000058" "30" "9085" "-3" "9085" "-3" "c.9085-3T>C" "r.spl?" "p.?" "" "0000504638" "00000058" "50" "8203" "0" "8203" "0" "c.8203T>G" "r.(?)" "p.(Phe2735Val)" "" "0000504640" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "" "0000504641" "00000058" "10" "7566" "0" "7566" "0" "c.7566A>G" "r.(?)" "p.(Leu2522=)" "" "0000504642" "00000058" "10" "7566" "0" "7566" "0" "c.7566A>G" "r.(?)" "p.(Leu2522=)" "" "0000504643" "00000058" "30" "7179" "0" "7179" "0" "c.7179T>A" "r.(?)" "p.(Ala2393=)" "" "0000504644" "00000058" "50" "7088" "0" "7088" "0" "c.7088T>G" "r.(?)" "p.(Val2363Gly)" "" "0000504645" "00000058" "50" "7021" "0" "7021" "0" "c.7021A>T" "r.(?)" "p.(Ile2341Phe)" "" "0000504646" "00000058" "30" "6275" "0" "6275" "0" "c.6275A>T" "r.(?)" "p.(Asn2092Ile)" "" "0000504647" "00000058" "50" "6131" "0" "6131" "0" "c.6131A>G" "r.(?)" "p.(Asn2044Ser)" "" "0000504648" "00000058" "30" "6131" "0" "6131" "0" "c.6131A>G" "r.(?)" "p.(Asn2044Ser)" "" "0000504649" "00000058" "10" "5961" "0" "5961" "0" "c.5961A>G" "r.(?)" "p.(Gln1987=)" "" "0000504650" "00000058" "10" "5961" "0" "5961" "0" "c.5961A>G" "r.(?)" "p.(Gln1987=)" "" "0000504652" "00000058" "30" "5703" "0" "5703" "0" "c.5703C>T" "r.(?)" "p.(Ala1901=)" "" "0000504653" "00000058" "10" "5579" "0" "5579" "0" "c.5579C>T" "r.(?)" "p.(Ala1860Val)" "" "0000504655" "00000058" "50" "5394" "0" "5396" "0" "c.5394_5396del" "r.(?)" "p.(Phe1798del)" "" "0000504656" "00000058" "30" "5333" "0" "5333" "0" "c.5333T>C" "r.(?)" "p.(Ile1778Thr)" "" "0000504659" "00000058" "30" "4213" "0" "4213" "0" "c.4213C>T" "r.(?)" "p.(Arg1405Cys)" "" "0000504660" "00000058" "50" "4118" "0" "4120" "0" "c.4118_4120del" "r.(?)" "p.(Tyr1373del)" "" "0000504661" "00000058" "50" "3860" "0" "3860" "0" "c.3860A>G" "r.(?)" "p.(Lys1287Arg)" "" "0000504663" "00000058" "10" "3741" "3" "3741" "3" "c.3741+3A>G" "r.spl?" "p.?" "" "0000504665" "00000058" "30" "3269" "0" "3269" "0" "c.3269C>T" "r.(?)" "p.(Ser1090Phe)" "" "0000504666" "00000058" "90" "2495" "0" "2495" "0" "c.2495dup" "r.(?)" "p.(Tyr832Ter)" "" "0000504667" "00000058" "30" "1949" "0" "1949" "0" "c.1949C>G" "r.(?)" "p.(Ser650Cys)" "" "0000504668" "00000058" "90" "1922" "-1" "1922" "-1" "c.1922-1G>A" "r.spl?" "p.?" "" "0000504669" "00000058" "30" "1689" "0" "1689" "0" "c.1689A>G" "r.(?)" "p.(Thr563=)" "" "0000504670" "00000058" "30" "1467" "0" "1467" "0" "c.1467A>G" "r.(?)" "p.(Arg489=)" "" "0000504672" "00000058" "30" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Pro238Ser)" "" "0000605047" "00000058" "30" "9112" "0" "9112" "0" "c.9112G>A" "r.(?)" "p.(Ala3038Thr)" "" "0000605048" "00000058" "30" "6247" "0" "6247" "0" "c.6247A>G" "r.(?)" "p.(Thr2083Ala)" "" "0000620463" "00000058" "30" "502" "0" "502" "0" "c.502A>C" "r.(?)" "p.(Arg168=)" "" "0000630938" "00000058" "90" "9492" "0" "9492" "0" "c.9492T>G" "r.(?)" "p.(Tyr3164*)" "" "0000630939" "00000058" "90" "9492" "0" "9492" "0" "c.9492T>G" "r.(?)" "p.(Tyr3164*)" "" "0000630940" "00000058" "90" "9492" "0" "9492" "0" "c.9492T>G" "r.(?)" "p.(Tyr3164*)" "" "0000630941" "00000058" "90" "9492" "0" "9492" "0" "c.9492T>G" "r.(?)" "p.(Tyr3164*)" "" "0000630953" "00000058" "90" "9685" "0" "9685" "0" "c.9685del" "r.(?)" "p.(Ile3229Leufs*6)" "" "0000630954" "00000058" "90" "9685" "0" "9685" "0" "c.9685del" "r.(?)" "p.(Ile3229Leufs*6)" "" "0000630955" "00000058" "90" "9685" "0" "9685" "0" "c.9685del" "r.(?)" "p.(Ile3229Leufs*6)" "" "0000647488" "00000058" "90" "9697" "0" "9697" "0" "c.9697C>T" "r.(?)" "p.(Arg3233*)" "" "0000647489" "00000058" "50" "9539" "0" "9539" "0" "c.9539A>C" "r.(?)" "p.(Gln3180Pro)" "" "0000647490" "00000058" "90" "8711" "0" "8712" "0" "c.8711_8712del" "r.(?)" "p.(Gln2904Argfs*15)" "" "0000647491" "00000058" "50" "8068" "0" "8068" "0" "c.8068C>T" "r.(?)" "p.(Arg2690Trp)" "" "0000647492" "00000058" "90" "7825" "0" "7825" "0" "c.7825C>T" "r.(?)" "p.(Gln2609*)" "" "0000647493" "00000058" "50" "5510" "0" "5510" "0" "c.5510G>A" "r.(?)" "p.(Gly1837Asp)" "" "0000647494" "00000058" "50" "5185" "0" "5185" "0" "c.5185C>T" "r.(?)" "p.(Arg1729Trp)" "" "0000647495" "00000058" "50" "4213" "0" "4213" "0" "c.4213C>T" "r.(?)" "p.(Arg1405Cys)" "" "0000647496" "00000058" "50" "2751" "0" "2751" "0" "c.2751C>T" "r.(=)" "p.(=)" "" "0000647497" "00000058" "50" "2267" "0" "2267" "0" "c.2267A>G" "r.(?)" "p.(Tyr756Cys)" "" "0000652967" "00000058" "30" "9395" "0" "9395" "0" "c.9395T>G" "r.(?)" "p.(Leu3132Arg)" "" "0000653214" "00000058" "90" "3960" "0" "3961" "0" "c.3960_3961insA" "r.(?)" "p.(Val1321Serfs*29)" "" "0000653838" "00000058" "90" "8420" "0" "8420" "0" "c.8420del" "r.(?)" "p.(Gln2807ArgfsTer13)" "" "0000653839" "00000058" "30" "3311" "0" "3311" "0" "c.3311G>A" "r.(?)" "p.(Gly1104Asp)" "" "0000653840" "00000058" "50" "2365" "0" "2365" "0" "c.2365A>G" "r.(?)" "p.(Ile789Val)" "" "0000668989" "00000058" "50" "9539" "0" "9539" "0" "c.9539A>C" "r.(?)" "p.(Gln3180Pro)" "" "0000668990" "00000058" "50" "4213" "0" "4213" "0" "c.4213C>T" "r.(?)" "p.(Arg1405Cys)" "" "0000668991" "00000058" "50" "2267" "0" "2267" "0" "c.2267A>G" "r.(?)" "p.(Tyr756Cys)" "" "0000670140" "00000058" "30" "9395" "0" "9395" "0" "c.9395T>G" "r.(?)" "p.(Leu3132Arg)" "" "0000675588" "00000058" "30" "5356" "0" "5356" "0" "c.5356C>G" "r.(?)" "p.(His1786Asp)" "" "0000675589" "00000058" "30" "2173" "5" "2173" "5" "c.2173+5A>T" "r.spl?" "p.?" "" "0000687973" "00000058" "30" "5947" "0" "5947" "0" "c.5947A>T" "r.(?)" "p.(Met1983Leu)" "" "0000687974" "00000058" "30" "4113" "0" "4113" "0" "c.4113A>G" "r.(?)" "p.(Lys1371=)" "" "0000687975" "00000058" "90" "3845" "0" "3845" "0" "c.3845dup" "r.(?)" "p.(Thr1284AsnfsTer34)" "" "0000687976" "00000058" "30" "774" "0" "774" "0" "c.774A>C" "r.(?)" "p.(Leu258=)" "" "0000701842" "00000058" "50" "3977" "0" "3977" "0" "c.3977G>A" "r.(?)" "p.(Trp1326*)" "" "0000717056" "00000058" "70" "8098" "0" "8098" "0" "c.8098C>T" "r.(?)" "p.(Arg2700*)" "" "0000717057" "00000058" "30" "6497" "0" "6497" "0" "c.6497T>G" "r.(?)" "p.(Ile2166Ser)" "" "0000717058" "00000058" "90" "4195" "0" "4195" "0" "c.4195dup" "r.(?)" "p.(Thr1399AsnfsTer20)" "" "0000717059" "00000058" "30" "4066" "0" "4066" "0" "c.4066G>A" "r.(?)" "p.(Gly1356Arg)" "" "0000786751" "00000058" "70" "277" "0" "277" "0" "c.277del" "r.(?)" "p.(Gln93SerfsTer26)" "1" "0000786752" "00000058" "90" "900" "0" "900" "0" "c.900delC" "r.(?)" "p.(Asn301ThrfsTer6)" "3" "0000786753" "00000058" "90" "7125" "0" "7128" "0" "c.7125_7128dup" "r.(?)" "p.(Gln2377ThrfsTer26)" "18" "0000787447" "00000058" "90" "1729" "0" "1730" "0" "c.1729_1730del" "r.(?)" "p.(Ser577ArgfsTer33)" "3" "0000798180" "00000058" "50" "7939" "0" "7939" "0" "c.7939C>A" "r.(?)" "p.(Leu2647Ile)" "" "0000798982" "00000058" "50" "10331" "5" "10331" "5" "c.10331+5G>A" "r.spl?" "p.?" "" "0000798983" "00000058" "30" "9886" "0" "9886" "0" "c.9886A>G" "r.(?)" "p.(Ile3296Val)" "" "0000798984" "00000058" "30" "8576" "0" "8576" "0" "c.8576A>G" "r.(?)" "p.(Gln2859Arg)" "" "0000798985" "00000058" "90" "7974" "0" "7974" "0" "c.7974C>G" "r.(?)" "p.(Tyr2658*)" "" "0000798986" "00000058" "30" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(Leu1320=)" "" "0000798987" "00000058" "50" "441" "0" "441" "0" "c.441G>T" "r.(?)" "p.(Lys147Asn)" "" "0000817852" "00000058" "90" "8053" "0" "8054" "0" "c.8053_8054dup" "r.(?)" "p.(Gln2686PhefsTer10)" "" "0000817869" "00000058" "90" "8098" "0" "8098" "0" "c.8098C>T" "r.(?)" "p.(Arg2700Ter)" "" "0000817873" "00000058" "90" "3506" "0" "3507" "0" "c.3506_3507del" "r.(?)" "p.(Val1169GlyfsTer15)" "" "0000817906" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "" "0000836601" "00000058" "90" "6854" "0" "6855" "0" "c.6854_6855del" "r.(?)" "p.(Leu2285Glnfs*32)" "18" "0000846491" "00000058" "70" "9084" "5" "9084" "5" "c.9084+5G>T" "r.(?)" "p.(?)" "" "0000848451" "00000058" "10" "10332" "-6" "10332" "-6" "c.10332-6del" "r.(=)" "p.(=)" "" "0000848452" "00000058" "10" "10332" "-6" "10332" "-6" "c.10332-6dup" "r.(=)" "p.(=)" "" "0000848453" "00000058" "50" "2227" "0" "2227" "0" "c.2227C>A" "r.(?)" "p.(Pro743Thr)" "" "0000857198" "00000058" "90" "9190" "0" "9190" "0" "c.9190C>T" "r.(?)" "p.(Arg3064Ter)" "" "0000857199" "00000058" "30" "2267" "0" "2267" "0" "c.2267A>G" "r.(?)" "p.(Tyr756Cys)" "" "0000883017" "00000058" "90" "8288" "0" "8289" "0" "c.8288_8289del" "r.(?)" "p.(Glu2763Glyfs*8)" "" "0000883018" "00000058" "90" "7783" "0" "7786" "0" "c.7783_7786del" "r.(?)" "p.(Lys2595Tyrfs*20)" "" "0000883019" "00000058" "90" "6337" "0" "6338" "0" "c.6337_6338del" "r.(?)" "p.(Ile2113Serfs*11)" "" "0000909970" "00000058" "90" "77" "0" "77" "0" "c.77del" "r.(?)" "p.(Gly26Alafs*42)" "" "0000910887" "00000058" "50" "8779" "0" "8779" "0" "c.8779C>T" "r.(?)" "p.(Arg2927Trp)" "" "0000910888" "00000058" "50" "4148" "0" "4148" "0" "c.4148T>C" "r.(?)" "p.(Met1383Thr)" "" "0000920665" "00000058" "90" "2389" "0" "2389" "0" "c.2389C>T" "r.(?)" "p.(Arg797Ter)" "" "0000920666" "00000058" "90" "9841" "0" "9841" "0" "c.9841A>T" "r.(?)" "p.(Arg3281Ter)" "" "0000920667" "00000058" "90" "1932" "0" "1932" "0" "c.1932del" "r.(?)" "p.(Phe645SerfsTer23)" "" "0000920668" "00000058" "90" "1366" "0" "1366" "0" "c.1366G>T" "r.(?)" "p.(Glu456Ter)" "" "0000920669" "00000058" "90" "6513" "0" "6513" "0" "c.6513dup" "r.(?)" "p.(Val2172SerfsTer7)" "" "0000920670" "00000058" "90" "8700" "0" "8702" "0" "c.8700_8702delinsCC" "r.(?)" "p.(Lys2900AsnfsTer38)" "" "0000920671" "00000058" "90" "1631" "0" "1635" "0" "c.1631_1635del" "r.(?)" "p.(Tyr544SerfsTer9)" "" "0000920672" "00000058" "90" "4195" "0" "4195" "0" "c.4195dup" "r.(?)" "p.(Thr1399AsnfsTer20)" "" "0000920673" "00000058" "90" "4250" "0" "4251" "0" "c.4250_4251del" "r.(?)" "p.(Tyr1417Ter)" "" "0000920674" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "" "0000920701" "00000058" "90" "6686" "0" "6689" "0" "c.6686_6689del" "r.(?)" "p.(Arg2229ThrfsTer10)" "" "0000920702" "00000058" "90" "8133" "0" "8136" "0" "c.8133_8136del" "r.(?)" "p.(Lys2712LeufsTer16)" "" "0000920703" "00000058" "90" "5590" "0" "5591" "0" "c.5590_5591del" "r.(?)" "p.(Leu1864SerfsTer2)" "" "0000920728" "00000058" "70" "9069" "0" "9075" "0" "c.9069_9075del" "r.(9069_9075del)" "p.(His3023Glnfs*2)" "" "0000920862" "00000058" "90" "2629" "2" "2629" "2" "c.2629+2del" "r.spl" "p.?" "" "0000920863" "00000058" "90" "3067" "0" "3067" "0" "c.3067T>G" "r.(3067_3082del)" "p.(Leu1023Glufs*24)" "" "0000920864" "00000058" "90" "9754" "0" "9754" "0" "c.9754del" "r.(?)" "p.(Arg3252Glufs*10)" "" "0000920866" "00000058" "90" "4849" "0" "4849" "0" "c.4849C>T" "r.(?)" "p.(Arg1617*)" "" "0000920867" "00000058" "90" "10013" "0" "10013" "0" "c.10013del" "r.(?)" "p.(Asp3338Valfs*2)" "" "0000920868" "00000058" "90" "9730" "0" "9730" "0" "c.9730C>T" "r.(?)" "p.(Arg3244*)" "" "0000920869" "00000058" "90" "6189" "0" "6189" "0" "c.6189T>G" "r.(?)" "p.(Tyr2063*)" "" "0000920870" "00000058" "10" "7480" "0" "7480" "0" "c.7480T>C" "r.(?)" "p.(Tyr2494His)" "" "0000920871" "00000058" "10" "7684" "0" "7684" "0" "c.7684A>G" "r.(?)" "p.(Ser2562Gly)" "" "0000920872" "00000058" "10" "7939" "0" "7939" "0" "c.7939C>A" "r.(?)" "p.(Leu2647Ile)" "" "0000920873" "00000058" "10" "9395" "0" "9395" "0" "c.9395T>G" "r.(?)" "p.(Leu3132Arg)" "" "0000920874" "00000058" "10" "849" "0" "849" "0" "c.849C>T" "r.(=)" "p.(=)" "" "0000920875" "00000058" "10" "3579" "0" "3579" "0" "c.3579T>A" "r.(=)" "p.(=)" "" "0000920876" "00000058" "10" "4449" "0" "4449" "0" "c.4449A>G" "r.(=)" "p.(=)" "" "0000920877" "00000058" "10" "5961" "0" "5961" "0" "c.5961A>G" "r.(=)" "p.(=)" "" "0000920878" "00000058" "10" "7566" "0" "7566" "0" "c.7566A>G" "r.(=)" "p.(=)" "" "0000920879" "00000058" "10" "7674" "0" "7674" "0" "c.7674C>T" "r.(=)" "p.(=)" "" "0000920880" "00000058" "90" "3742" "-1" "3742" "-1" "c.3742-1G>C" "r.spl" "p.?" "15i" "0000920882" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595Serfs*6)" "" "0000920883" "00000058" "90" "2389" "0" "2389" "0" "c.2389C>T" "r.(?)" "p.(Arg797*)" "" "0000920884" "00000058" "90" "3055" "0" "3055" "0" "c.3055C>T" "r.(?)" "p.(Arg1019*)" "" "0000920885" "00000058" "90" "6750" "0" "6750" "0" "c.6750del" "r.(?)" "p.(Phe2250Leufs*10)" "" "0000920886" "00000058" "90" "8227" "0" "8227" "0" "c.8227C>T" "r.(?)" "p.(Arg2743*)" "" "0000920887" "00000058" "90" "7772" "0" "7775" "0" "c.7772_7775del" "r.(?)" "p.(Lys2591Argfs*24)" "" "0000920888" "00000058" "90" "3796" "0" "3796" "0" "c.3796G>T" "r.(?)" "p.(Glu1266*)" "" "0000920889" "00000058" "90" "7815" "0" "7816" "0" "c.7815_7816del" "r.(?)" "p.(Glu2605Aspfs*31)" "" "0000920890" "00000058" "90" "719" "0" "720" "0" "c.719_720del" "r.(?)" "p.(Ser240Cysfs*16)" "" "0000920891" "00000058" "90" "1260" "0" "1266" "0" "c.1260_1266del" "r.(?)" "p.(Gln421Hisfs*32)" "" "0000920892" "00000058" "90" "7761" "0" "7761" "0" "c.7761T>G" "r.(?)" "p.(Tyr2587*)" "" "0000920893" "00000058" "90" "9159" "0" "9159" "0" "c.9159del" "r.(?)" "p.(Lys3053Asnfs*5)" "" "0000920894" "00000058" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Ter)" "2" "0000920895" "00000058" "90" "1260" "0" "1266" "0" "c.1260_1266del" "r.(?)" "p.(Gln421Hisfs*32)" "" "0000920896" "00000058" "90" "9190" "0" "9190" "0" "c.9190C>T" "r.(?)" "p.(Arg3064Ter)" "21" "0000920897" "00000058" "90" "2936" "5" "2936" "5" "c.2936+5G>T" "r.spl" "p.?" "10i" "0000920898" "00000058" "90" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Gln664Ter)" "4" "0000920899" "00000058" "90" "8508" "0" "8509" "0" "c.8508_8509del" "r.(?)" "p.(Lys2837MetfsTer34)" "18" "0000920900" "00000058" "90" "3082" "0" "3082" "0" "c.3082G>A" "r.spl" "p.?" "11" "0000920901" "00000058" "90" "4583" "0" "4583" "0" "c.4583del" "r.(?)" "p.(Lys1528ArgfsTer24)" "18" "0000920902" "00000058" "90" "4795" "0" "4795" "0" "c.4795C>T" "r.(?)" "p.(Arg1599Ter)" "18" "0000920903" "00000058" "90" "9159" "0" "9159" "0" "c.9159del" "r.(?)" "p.(Lys3053AsnfsTer5)" "21" "0000920904" "00000058" "90" "7896" "0" "7897" "0" "c.7896_7897del" "r.(?)" "p.(Lys2633AlafsTer3)" "18" "0000920905" "00000058" "90" "9557" "0" "9557" "0" "c.9557C>G" "r.(?)" "p.(Ser3186Ter)" "23" "0000920906" "00000058" "90" "9984" "1" "9984" "1" "c.9984+1G>T" "r.spl" "p.?" "25i" "0000920907" "00000058" "90" "3663" "0" "3663" "0" "c.3663del" "r.(?)" "p.(Arg1221SerfsTer13)" "15" "0000920908" "00000058" "90" "3811" "0" "3811" "0" "c.3811C>T" "r.(?)" "p.(Arg1271Ter)" "16" "0000920909" "00000058" "90" "3527" "0" "3527" "0" "c.3527C>G" "r.(?)" "p.(Ser1176Ter)" "14" "0000920910" "00000058" "90" "1959" "0" "1962" "0" "c.1959_1962del" "r.(?)" "p.(Asn653LysfsTer14)" "4" "0000920911" "00000058" "90" "1729" "0" "1730" "0" "c.1729_1730del" "r.(?)" "p.(Ser577ArgfsTer33)" "3" "0000920912" "00000058" "90" "9754" "0" "9754" "0" "c.9754del" "r.(?)" "p.(Arg3252GlufsTer10)" "24" "0000920913" "00000058" "10" "3138" "0" "3138" "0" "c.3138G>A" "r.(?)" "p.(Arg1046=)" "12" "0000920914" "00000058" "10" "3714" "0" "3714" "0" "c.3714T>C" "r.(?)" "p.(Asp1238=)" "15" "0000920915" "00000058" "10" "4344" "0" "4344" "0" "c.4344A>G" "r.(?)" "p.(Ile1448Met)" "18" "0000920916" "00000058" "10" "4449" "0" "4449" "0" "c.4449G>A" "r.(?)" "p.(Lys1483=)" "18" "0000920917" "00000058" "10" "5856" "0" "5856" "0" "c.5856A>G" "r.(?)" "p.(Leu1952=)" "18" "0000920918" "00000058" "10" "5961" "0" "5961" "0" "c.5961A>G" "r.(?)" "p.(Gln1987=)" "18" "0000920919" "00000058" "10" "7605" "0" "7605" "0" "c.7605G>A" "r.(?)" "p.(Val2535=)" "18" "0000920920" "00000058" "10" "7674" "0" "7674" "0" "c.7674C>T" "r.(?)" "p.(Ile2558=)" "18" "0000920921" "00000058" "10" "7684" "0" "7684" "0" "c.7684A>G" "r.(?)" "p.(Ser2562Gly)" "18" "0000920922" "00000058" "10" "7939" "0" "7939" "0" "c.7939C>A" "r.(?)" "p.(Leu2647Ile)" "18" "0000920923" "00000058" "10" "9395" "0" "9395" "0" "c.9395T>G" "r.(?)" "p.(Leu3132Arg)" "22" "0000920924" "00000058" "90" "9178" "0" "9178" "0" "c.9178C>T" "r.(?)" "p.(Gln3060*)" "" "0000920925" "00000058" "90" "9178" "0" "9178" "0" "c.9178C>T" "r.(?)" "p.(Gln3060*)" "" "0000920926" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326*)" "" "0000920927" "00000058" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117*)" "" "0000920928" "00000058" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117*)" "" "0000920962" "00000058" "90" "1260" "0" "1266" "0" "c.1260_1266del" "r.(?)" "p.(Gln421HisfsTer32)" "3" "0000920963" "00000058" "90" "9115" "0" "9118" "0" "c.9115_9118dup" "r.(?)" "p.(Tyr3040SerfsTer3)" "21" "0000920964" "00000058" "90" "9238" "0" "9238" "0" "c.9238A>T" "r.(?)" "p.(Lys3080Ter)" "21" "0000920965" "00000058" "90" "9557" "0" "9557" "0" "c.9557C>G" "r.(?)" "p.(Ser3186Ter)" "23" "0000920966" "00000058" "90" "9539" "0" "9539" "0" "c.9539A>C" "r.(?)" "p.(Gln3180Pro)" "23" "0000920967" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000920968" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000920969" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000920970" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000920971" "00000058" "10" "7480" "0" "7480" "0" "c.7480T>C" "r.(?)" "p.(Tyr2494His)" "" "0000920972" "00000058" "10" "7576" "0" "7576" "0" "c.7576A>G" "r.(?)" "p.(Asn2526Asp)" "" "0000920973" "00000058" "10" "7939" "0" "7939" "0" "c.7939C>A" "r.(?)" "p.(Leu2647Ile)" "" "0000920974" "00000058" "10" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ser283=)" "" "0000920975" "00000058" "10" "3579" "0" "3579" "0" "c.3579T>A" "r.(?)" "p.(Ser1193=)" "" "0000920976" "00000058" "10" "4449" "0" "4449" "0" "c.4449A>G" "r.(?)" "p.(Lys1483=)" "" "0000920977" "00000058" "10" "5961" "0" "5961" "0" "c.5961A>G" "r.(?)" "p.(Gln1987=)" "" "0000920978" "00000058" "10" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Glu202=)" "" "0000920979" "00000058" "10" "7939" "0" "7939" "0" "c.7939C>A" "r.(?)" "p.(Leu2647Ile)" "" "0000920980" "00000058" "10" "7605" "0" "7605" "0" "c.7605G>A" "r.(=)" "p.(Val2535=)" "" "0000920981" "00000058" "10" "4449" "0" "4449" "0" "c.4449A>G" "r.(=)" "p.(Lys1483=)" "" "0000920982" "00000058" "10" "7605" "0" "7605" "0" "c.7605G>A" "r.(=)" "p.(Val2535=)" "" "0000920983" "00000058" "10" "5961" "0" "5961" "0" "c.5961A>G" "r.(=)" "p.(Gln1987=)" "" "0000920984" "00000058" "90" "5149" "0" "5149" "0" "c.5149del" "r.(?)" "p.(Ile1717Ter)" "18" "0000920985" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000920986" "00000058" "90" "5136" "0" "5136" "0" "c.5136C>A" "r.(?)" "p.(Tyr1712Ter)" "18" "0000920987" "00000058" "90" "8508" "0" "8509" "0" "c.8508_8509del" "r.(?)" "p.(Lys2837MetfsTer34)" "18" "0000920988" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000920989" "00000058" "90" "10059" "0" "10059" "0" "c.10059C>A" "r.(?)" "p.(Tyr3353Ter)" "26" "0000920990" "00000058" "90" "9730" "0" "9730" "0" "c.9730C>T" "r.(?)" "p.(Arg3244Ter)" "24" "0000920991" "00000058" "90" "77" "0" "77" "0" "c.77del" "r.(?)" "p.(Gly26AlafsTer42)" "1" "0000920992" "00000058" "90" "298" "-581" "3391" "-242" "c.298-581_3391-242del" "r.?" "p.?" "1i_13i" "0000920993" "00000058" "90" "440" "0" "440" "0" "c.440del" "r.(?)" "p.(Lys147ArgfsTer54)" "2" "0000920994" "00000058" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Gln193Ter)" "3" "0000920995" "00000058" "90" "1154" "0" "1155" "0" "c.1154_1155del" "r.(?)" "p.(Glu385ValfsTer3)" "3" "0000920996" "00000058" "90" "1179" "0" "1179" "0" "c.1179del" "r.(?)" "p.(Asn394IlefsTer4)" "3" "0000920997" "00000058" "90" "1366" "0" "1366" "0" "c.1366G>T" "r.(?)" "p.(Glu456Ter)" "3" "0000920998" "00000058" "90" "1406" "0" "1413" "0" "c.1406_1413del" "r.(?)" "p.(Asn469IlefsTer9)" "3" "0000920999" "00000058" "90" "1590" "0" "1590" "0" "c.1590del" "r.(?)" "p.(Val531Ter)" "3" "0000921000" "00000058" "90" "1959" "0" "1962" "0" "c.1959_1962del" "r.(?)" "p.(Asn653LysfsTer14)" "4" "0000921001" "00000058" "90" "1959" "0" "1962" "0" "c.1959_1962del" "r.(?)" "p.(Asn653LysfsTer14)" "4" "0000921002" "00000058" "90" "2761" "-25" "2761" "-25" "c.2761-25A>G" "r.spl" "p.?" "9i" "0000921003" "00000058" "90" "2967" "0" "2967" "0" "c.2967G>A" "r.(?)" "p.(Trp989Ter)" "11" "0000921004" "00000058" "90" "3055" "0" "3055" "0" "c.3055C>T" "r.(?)" "p.(Arg1019Ter)" "11" "0000921005" "00000058" "90" "3055" "0" "3055" "0" "c.3055C>T" "r.(?)" "p.(Arg1019Ter)" "11" "0000921006" "00000058" "90" "3188" "0" "3188" "0" "c.3188T>G" "r.(?)" "p.(Leu1063Ter)" "13" "0000921007" "00000058" "90" "3741" "1" "3741" "1" "c.3741+1G>A" "r.spl" "p.?" 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"p.(Asn2734LeufsTer16)" "18" "0000921348" "00000058" "90" "8200" "0" "8201" "0" "c.8200_8201del" "r.(?)" "p.(Asn2734LeufsTer16)" "18" "0000921349" "00000058" "90" "8200" "0" "8201" "0" "c.8200_8201del" "r.(?)" "p.(Asn2734LeufsTer16)" "18" "0000921350" "00000058" "90" "8200" "0" "8201" "0" "c.8200_8201del" "r.(?)" "p.(Asn2734LeufsTer16)" "18" "0000921351" "00000058" "90" "8200" "0" "8201" "0" "c.8200_8201del" "r.(?)" "p.(Asn2734LeufsTer16)" "18" "0000921352" "00000058" "90" "8200" "0" "8201" "0" "c.8200_8201del" "r.(?)" "p.(Asn2734LeufsTer16)" "18" "0000921353" "00000058" "90" "8200" "0" "8201" "0" "c.8200_8201del" "r.(?)" "p.(Asn2734LeufsTer16)" "18" "0000921354" "00000058" "90" "8200" "0" "8201" "0" "c.8200_8201del" "r.(?)" "p.(Asn2734LeufsTer16)" "18" "0000921355" "00000058" "90" "5606" "0" "5606" "0" "c.5606dup" "r.(?)" "p.(His1870ThrfsTer26)" "18" "0000921356" "00000058" "90" "5606" "0" "5606" "0" "c.5606dup" "r.(?)" "p.(His1870ThrfsTer26)" "18" "0000921357" "00000058" "90" "5606" "0" "5606" "0" "c.5606dup" "r.(?)" "p.(His1870ThrfsTer26)" "18" "0000921358" "00000058" "90" "2967" "0" "2967" "0" "c.2967G>A" "r.(?)" "p.(Trp989Ter)" "11" "0000921364" "00000058" "90" "688" "0" "688" "0" "c.688del" "r.(?)" "p.(Glu230AsnfsTer30)" "3" "0000921365" "00000058" "90" "688" "0" "688" "0" "c.688del" "r.(?)" "p.(Glu230AsnfsTer30)" "3" "0000921366" "00000058" "90" "688" "0" "688" "0" "c.688del" "r.(?)" "p.(Glu230AsnfsTer30)" "3" "0000921367" "00000058" "90" "688" "0" "688" "0" "c.688del" "r.(?)" "p.(Glu230AsnfsTer30)" "3" "0000921368" "00000058" "90" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Arg597Ter)" "3" "0000921369" "00000058" "90" "1959" "0" "1962" "0" "c.1959_1962del" "r.(?)" "p.(Asn653LysfsTer14)" "4" "0000921370" "00000058" "90" "9541" "0" "9541" "0" "c.9541C>T" "r.(?)" "p.(Arg3181Ter)" "23" "0000921371" "00000058" "90" "2936" "1" "2936" "1" "c.2936+1G>A" "r.spl" "p.?" "10i" "0000921372" "00000058" "90" "3108" "0" "3114" "0" "c.3108_3114del" "r.(?)" "p.(Val1037GlyfsTer13)" "12" "0000921373" "00000058" "90" "3108" "0" "3114" "0" "c.3108_3114del" "r.(?)" "p.(Val1037GlyfsTer13)" "12" "0000921374" "00000058" "90" "3979" "0" "3979" "0" "c.3979C>T" "r.(?)" "p.(Arg1327Ter)" "17" "0000921375" "00000058" "90" "3979" "0" "3979" "0" "c.3979C>T" "r.(?)" "p.(Arg1327Ter)" "17" "0000921376" "00000058" "90" "3979" "0" "3979" "0" "c.3979C>T" "r.(?)" "p.(Arg1327Ter)" "17" "0000921377" "00000058" "90" "3979" "0" "3979" "0" "c.3979C>T" "r.(?)" "p.(Arg1327Ter)" "17" "0000921378" "00000058" "90" "3979" "0" "3979" "0" "c.3979C>T" "r.(?)" "p.(Arg1327Ter)" "17" "0000921379" "00000058" "90" "4612" "0" "4612" "0" "c.4612C>T" "r.(?)" "p.(Arg1538Ter)" "18" "0000921380" "00000058" "90" "9190" "0" "9190" "0" "c.9190C>T" "r.(?)" "p.(Arg3064Ter)" "21" "0000921381" "00000058" "90" "9190" "0" "9190" "0" "c.9190C>T" "r.(?)" "p.(Arg3064Ter)" "21" "0000921382" "00000058" "90" "9541" "0" "9541" "0" "c.9541C>T" "r.(?)" "p.(Arg3181Ter)" "23" "0000921383" "00000058" "90" "9697" "0" "9697" "0" "c.9697C>T" "r.(?)" "p.(Arg3233Ter)" "24" "0000921384" "00000058" "90" "9697" "0" "9697" "0" "c.9697C>T" "r.(?)" "p.(Arg3233Ter)" "24" "0000921385" "00000058" "90" "3341" "0" "3341" "0" "c.3341del" "r.(?)" "p.(Lys1114SerfsTer3)" "13" "0000921386" "00000058" "90" "3341" "0" "3341" "0" "c.3341del" "r.(?)" "p.(Lys1114SerfsTer3)" "13" "0000921387" "00000058" "90" "9190" "0" "9190" "0" "c.9190C>T" "r.(?)" "p.(Arg3064Ter)" "21" "0000921388" "00000058" "90" "10168" "0" "10168" "0" "c.10168C>T" "r.(?)" "p.(Arg3390Ter)" "27" "0000921389" "00000058" "90" "7491" "0" "7491" "0" "c.7491T>G" "r.(?)" "p.(Tyr2497Ter)" "18" "0000921390" "00000058" "90" "9492" "0" "9492" "0" "c.9492T>G" "r.(?)" "p.(Tyr3164Ter)" "" "0000921391" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921392" "00000058" "90" "5584" "0" "5584" "0" "c.5584A>G" "r.(?)" "p.(Lys1862Glu)" "" "0000921393" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921394" "00000058" "90" "2420" "0" "2420" "0" "c.2420del" "r.(?)" "p.(Gly807GlufsTer7)" "" "0000921396" "00000058" "90" "8098" "0" "8098" "0" "c.8098C>T" "r.(?)" "p.(Arg2700Ter)" "" "0000921398" "00000058" "90" "6852" "0" "6855" "0" "c.6852_6855del" "r.(?)" "p.(Trp1404Ter)" "" "0000921401" "00000058" "90" "4212" "0" "4212" "0" "c.4212G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921402" "00000058" "90" "1235" "0" "1239" "0" "c.1235_1239del" "r.(?)" "p.(Arg1164LeufsTer15)" "" "0000921403" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921404" "00000058" "90" "3491" "0" "3494" "0" "c.3491_3494del" "r.(?)" "p.(Trp1326Ter)" "" "0000921405" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921406" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921407" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921408" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921409" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Lys2837MetfsTer34)" "" "0000921410" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Gln1987Ter)" "" "0000921411" "00000058" "90" "8508" "0" "8509" "0" "c.8508_8509del" "r.(?)" "p.(Trp1326Ter)" "" "0000921412" "00000058" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Trp1326Ter)" "" "0000921413" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921414" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921415" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921416" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921417" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921418" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921419" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Arg427Ter)" "" "0000921420" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000921421" "00000058" "90" "7129" "0" "7129" "0" "c.7129C>T" "r.(?)" "p.(Lys412ThrfsTer5)" "" "0000921422" "00000058" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" "" "0000921425" "00000058" "90" "9557" "0" "9557" "0" "c.9557C>G" "r.(?)" "p.(Ser3186Ter)" "23" "0000921426" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921427" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921428" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921429" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921430" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921431" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921432" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921433" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921435" "00000058" "90" "9492" "0" "9492" "0" "c.9492T>G" "r.(?)" "p.(Tyr3164Ter)" "23" "0000921436" "00000058" "90" "6994" "0" "6994" "0" "c.6994C>T" "r.(?)" "p.(Arg2332Ter)" "18" "0000921437" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921438" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921439" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921440" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921442" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921444" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921445" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "17" "0000921446" "00000058" "90" "4185" "0" "4185" "0" "c.4185G>A" "r.(?)" "p.(Trp1395Ter)" "18" "0000921451" "00000058" "90" "4994" "0" "4998" "0" "c.4994_4998dup" "r.(?)" "p.(Arg1667IlefsTer12)" "18" "0000921452" "00000058" "90" "5940" "0" "5940" "0" "c.5940del" "r.(?)" "p.(Tyr1981IlefsTer13)" "18" "0000921453" "00000058" "90" "6568" "0" "6568" "0" "c.6568C>T" "r.(?)" "p.(Gln2190Ter)" "18" "0000921454" "00000058" "90" "8702" "0" "8702" "0" "c.8702del" "r.(?)" "p.(His2901LeufsTer37)" "18" "0000921455" "00000058" "90" "8702" "0" "8702" "0" "c.8702del" "r.(?)" "p.(His2901LeufsTer37)" "18" "0000921456" "00000058" "90" "8702" "0" "8702" "0" "c.8702del" "r.(?)" "p.(His2901LeufsTer37)" "18" "0000921457" "00000058" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380Ter)" "3" "0000921458" "00000058" "90" "1959" "0" "1962" "0" "c.1959_1962del" "r.(?)" "p.(Asn653LysfsTer14)" "4" "0000921459" "00000058" "90" "3796" "0" "3796" "0" "c.3796G>T" "r.(?)" "p.(Glu1266Ter)" "16" "0000921460" "00000058" "90" "4195" "0" "4195" "0" "c.4195dup" "r.(?)" "p.(Thr1399AsnfsTer20)" "18" "0000921461" "00000058" "90" "4795" "0" "4795" "0" "c.4795C>T" "r.(?)" "p.(Arg1599Ter)" "18" "0000921462" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "18" "0000921463" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "18" "0000921464" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "18" "0000921465" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "18" "0000921466" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "18" "0000921467" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "18" "0000921468" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "18" "0000921469" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "18" "0000921470" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "18" "0000921471" "00000058" "90" "8195" "0" "8198" "0" "c.8195_8198del" "r.(?)" "p.(Arg2732LysfsTer4)" "18" "0000921472" "00000058" "90" "9697" "0" "9697" "0" "c.9697C>T" "r.(?)" "p.(Arg3233Ter)" "24" "0000921473" "00000058" "90" "10168" "0" "10168" "0" "c.10168C>T" "r.(?)" "p.(Arg3390Ter)" "27" "0000921474" "00000058" "90" "6919" "0" "6919" "0" "c.6919C>T" "r.(?)" "p.(Gln2307Ter)" "18" "0000921475" "00000058" "90" "9910" "0" "9910" "0" "c.9910C>T" "r.(?)" "p.(Arg3304Ter)" "25" "0000921476" "00000058" "90" "8195" "0" "8198" "0" "c.8195_8198del" "r.(?)" "p.(Arg2732LysfsTer4)" "18" "0000921477" "00000058" "90" "8017" "0" "8017" "0" "c.8017C>T" "r.(?)" "p.(Gln2673Ter)" "18" "0000921478" "00000058" "90" "8017" "0" "8017" "0" "c.8017C>T" "r.(?)" "p.(Gln2673Ter)" "18" "0000921479" "00000058" "90" "9730" "0" "9730" "0" "c.9730C>T" "r.(?)" "p.(Arg3244Ter)" "24" "0000921480" "00000058" "90" "9730" "0" "9730" "0" "c.9730C>T" "r.(?)" "p.(Arg3244Ter)" "24" "0000921481" "00000058" "90" "9319" "0" "9319" "0" "c.9319C>T" "r.(?)" "p.(Arg3107Ter)" "22" "0000928087" "00000058" "10" "7787" "0" "7787" "0" "c.7787T>C" "r.(?)" "p.(Val2596Ala)" "" "0000928088" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "" "0000928089" "00000058" "90" "4906" "0" "4906" "0" "c.4906del" "r.(?)" "p.(Val1636Serfs*25)" "" "0000928090" "00000058" "90" "4728" "0" "4729" "0" "c.4728_4729del" "r.(?)" "p.(Arg1576Serfs*7)" "" "0000928091" "00000058" "10" "3741" "3" "3741" "3" "c.3741+3A>G" "r.spl?" "p.?" "" "0000928092" "00000058" "90" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Trp151Glyfs*50)" "" "0000947082" "00000058" "90" "7782" "0" "7783" "0" "c.7782_7783del" "r.(?)" "p.(Lys2595SerfsTer6)" "" "0000947083" "00000058" "50" "4852" "0" "4852" "0" "c.4852G>A" "r.(?)" "p.(Ala1618Thr)" "" "0000947084" "00000058" "50" "4438" "0" "4438" "0" "c.4438G>T" "r.(?)" "p.(Glu1480*)" "" "0000947085" "00000058" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Gln193*)" "" "0000947086" "00000058" "30" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Ala75Thr)" "" "0000973531" "00000058" "50" "9910" "0" "9910" "0" "c.9910C>G" "r.(?)" "p.(Arg3304Gly)" "" "0000973532" "00000058" "50" "9395" "0" "9395" "0" "c.9395T>C" "r.(?)" "p.(Leu3132Pro)" "" "0000973533" "00000058" "90" "9324" "0" "9324" "0" "c.9324del" "r.(?)" "p.(Leu3109PhefsTer11)" "" "0000973534" "00000058" "50" "7312" "0" "7312" "0" "c.7312C>G" "r.(?)" "p.(Gln2438Glu)" "" "0000973535" "00000058" "50" "6233" "0" "6233" "0" "c.6233G>A" "r.(?)" "p.(Arg2078Gln)" "" "0000973536" "00000058" "50" "5452" "0" "5452" "0" "c.5452C>T" "r.(?)" "p.(Arg1818Cys)" "" "0000973537" "00000058" "50" "4591" "0" "4591" "0" "c.4591C>T" "r.(?)" "p.(Arg1531Cys)" "" "0000973538" "00000058" "50" "4296" "0" "4296" "0" "c.4296A>C" "r.(?)" "p.(Arg1432Ser)" "" "0000973539" "00000058" "50" "4214" "0" "4214" "0" "c.4214G>A" "r.(?)" "p.(Arg1405His)" "" "0000973540" "00000058" "50" "2679" "0" "2679" "0" "c.2679G>C" "r.(?)" "p.(Leu893Phe)" "" "0000989538" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000989539" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000989540" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000989541" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000989542" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000989543" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000989544" "00000058" "90" "3978" "0" "3978" "0" "c.3978G>A" "r.(?)" "p.(Trp1326Ter)" "" "0000989545" "00000058" "90" "9557" "0" "9557" "0" "c.9557C>G" "r.(?)" "p.(Ser3186Ter)" "" "0000989546" "00000058" "90" "9557" "0" "9557" "0" "c.9557C>G" "r.(?)" "p.(Ser3186Ter)" "" "0000989547" "00000058" "90" "9557" "0" "9557" "0" "c.9557C>G" "r.(?)" "p.(Ser3186Ter)" "" "0000989548" "00000058" "90" "9557" "0" "9557" "0" "c.9557C>G" "r.(?)" "p.(Ser3186Ter)" "" "0000989549" "00000058" "90" "6994" "0" "6994" "0" "c.6994C>T" "r.(?)" "p.(Arg2332Ter)" "" "0000989550" "00000058" "90" "6994" "0" "6994" "0" "c.6994C>T" "r.(?)" "p.(Arg2332Ter)" "" "0000989551" "00000058" "90" "6994" "0" "6994" "0" "c.6994C>T" "r.(?)" "p.(Arg2332Ter)" "" "0000989552" "00000058" "90" "6994" "0" "6994" "0" "c.6994C>T" "r.(?)" "p.(Arg2332Ter)" "" "0000989553" "00000058" "90" "6994" "0" "6994" "0" "c.6994C>T" "r.(?)" "p.(Arg2332Ter)" "" "0000990681" "00000058" "30" "10159" "0" "10159" "0" "c.10159T>A" "r.(?)" "p.(Ser3387Thr)" "" "0000990682" "00000058" "30" "7812" "0" "7812" "0" "c.7812A>T" "r.(?)" "p.(Lys2604Asn)" "" "0000990683" "00000058" "30" "7157" "0" "7157" "0" "c.7157A>G" "r.(?)" "p.(His2386Arg)" "" "0000990684" "00000058" "50" "5845" "0" "5845" "0" "c.5845C>T" "r.(?)" "p.(His1949Tyr)" "" "0000990685" "00000058" "30" "3863" "0" "3863" "0" "c.3863G>A" "r.(?)" "p.(Arg1288His)" "" "0000990686" "00000058" "50" "3390" "3" "3390" "3" "c.3390+3A>G" "r.spl?" "p.?" "" "0000990687" "00000058" "30" "1429" "0" "1429" "0" "c.1429G>T" "r.(?)" "p.(Asp477Tyr)" "" "0001024091" "00000058" "30" "10332" "-6" "10332" "-6" "c.10332-6dup" "r.(=)" "p.(=)" "" "0001030936" "00000058" "70" "6115" "0" "6118" "0" "c.6115_6118del" "r.(6115_6118del)" "p.(Arg2039*)" "18" "0001031562" "00000058" "50" "9641" "0" "9641" "0" "c.9641T>C" "r.(?)" "p.(Leu3214Ser)" "" "0001031563" "00000058" "50" "7994" "0" "7994" "0" "c.7994G>C" "r.(?)" "p.(Arg2665Pro)" "" "0001031564" "00000058" "50" "6337" "0" "6337" "0" "c.6337A>G" "r.(?)" "p.(Ile2113Val)" "" "0001031565" "00000058" "50" "5000" "0" "5000" "0" "c.5000G>A" "r.(?)" "p.(Arg1667His)" "" "0001031566" "00000058" "50" "4985" "0" "4985" "0" "c.4985T>G" "r.(?)" "p.(Ile1662Ser)" "" "0001031567" "00000058" "50" "4402" "0" "4402" "0" "c.4402G>A" "r.(?)" "p.(Ala1468Thr)" "" "0001031568" "00000058" "50" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Arg1437Cys)" "" "0001031569" "00000058" "50" "3380" "0" "3380" "0" "c.3380A>G" "r.(?)" "p.(Tyr1127Cys)" "" "0001031570" "00000058" "30" "2937" "-7" "2937" "-7" "c.2937-7C>T" "r.(=)" "p.(=)" "" "0001031571" "00000058" "50" "2269" "0" "2269" "0" "c.2269A>G" "r.(?)" "p.(Thr757Ala)" "" "0001031572" "00000058" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Pro238Ser)" "" "0001031573" "00000058" "50" "147" "0" "147" "0" "c.147C>A" "r.(?)" "p.(Phe49Leu)" "" "0001049031" "00000058" "90" "637" "0" "637" "0" "c.637delA" "r.(?)" "p.(Ile213TyrfsTer47)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 591 "{{screeningid}}" "{{variantid}}" "0000000029" "0000798180" "0000057212" "0000087503" "0000057212" "0000087504" "0000057228" "0000087521" "0000057228" "0000087523" "0000081055" "0000130141" "0000081113" "0000130199" "0000132925" "0000222114" "0000132926" "0000222115" "0000132927" "0000222116" "0000132927" "0000222306" "0000132928" "0000222117" "0000132928" "0000222319" "0000132929" "0000222118" "0000132958" "0000222146" "0000132959" "0000222147" "0000132979" "0000222169" "0000132980" "0000222170" "0000132981" "0000222171" "0000132981" "0000920728" "0000132982" "0000222172" "0000132983" "0000222173" "0000133108" "0000222307" "0000133109" "0000222242" "0000133109" "0000222308" "0000133113" "0000222317" "0000133114" "0000222318" "0000133116" "0000222320" "0000133116" "0000222321" "0000133118" "0000222323" "0000133119" "0000222324" "0000133121" "0000222326" "0000133121" "0000222327" 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